Human Phenotype Ontology Consortium Monarch Initiative Peter Robinson Sebastian Köhler The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative Phenotypic abnormalities encountered in human disease Human Phenotype Ontology human_phenotype 1.2 has_part Please see license of HPO at http://www.human-phenotype-ontology.org 2026-06-23 definition term replaced by abbreviation allelic_requirement Core clinical terminology layperson term discarded/obsoleted synonym plural form Consequence of a disorder in another organ system. UK spelling subset_property synonym_type_property consider has_alternative_id has_broad_synonym database_cross_reference has_exact_synonym has_narrow_synonym has_obo_format_version has_obo_namespace has_related_synonym has_synonym_type in_subset logical-definition-view-relation shorthand BFO:0000050 human_phenotype part_of part_of part of RO:0000052 human_phenotype inheres_in inheres_in inheres in RO:0002314 human_phenotype inheres_in_part_of inheres_in_part_of inheres in part of UMLS:C0444868 human_phenotype HP:0000001 Root of all terms in the Human Phenotype Ontology. All HP:0000001 Deviation from the norm of height with respect to that which is expected according to age and gender norms. 2008-02-27T02:20:00Z UMLS:C4025901 Abnormality of body height human_phenotype HP:0000002 Abnormality of body height HP:0000002 Deviation from the norm of height with respect to that which is expected according to age and gender norms. https://orcid.org/0000-0002-0736-9199 Abnormality of body height Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. HP:0004715 SNOMEDCT_US:204962002 SNOMEDCT_US:82525005 UMLS:C3714581 Multicystic dysplastic kidney Multicystic kidneys Multicystic renal dysplasia human_phenotype HP:0000003 Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. Multicystic kidney dysplasia HP:0000003 Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. https://orcid.org/0000-0002-0736-9199 true HP:0000004 The pattern in which a particular genetic trait or disorder is passed from one generation to the next. HP:0001425 HP:0001453 HP:0001461 HP:0010985 UMLS:C1708511 Inheritance human_phenotype HP:0000005 While there is a close conceptual relationship between allelic requirement and inheritance, they serve different purposes; allelic requirement is necessary for variant annotation pipelines and to determine if a given variant in a specific context is relevant to the phenotype of the patient e.g. a heterozygous variant (in the absence of compound heterozygosity) is relevant for dominant but not for recessive disease; while inheritance is used for describing the mode of inheritance of a phenotype and is particularly applicable in the clinical setting for communicating recurrence risk, to guide family screening, and to guide reproductive advice. Mode of inheritance HP:0000005 The pattern in which a particular genetic trait or disorder is passed from one generation to the next. https://orcid.org/0000-0002-0736-9199 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. HP:0001415 HP:0001447 HP:0001448 HP:0001451 HP:0001452 HP:0001455 HP:0001456 HP:0001463 SNOMEDCT_US:263681008 UMLS:C0443147 Autosomal dominant monoallelic_autosomal human_phenotype Autosomal dominant form Autosomal dominant type HP:0000006 Autosomal dominant inheritance HP:0000006 Autosomal dominant type https://orcid.org/0000-0002-5316-1399 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. https://orcid.org/0000-0002-0736-9199 monoallelic_autosomal Autosomal dominant form https://orcid.org/0000-0002-5316-1399 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). HP:0001416 HP:0001526 HP:0031362 SNOMEDCT_US:258211005 UMLS:C0441748 UMLS:C4020899 Autosomal recessive biallelic_autosomal human_phenotype Autosomal recessive form Autosomal recessive predisposition HP:0000007 Autosomal recessive inheritance HP:0000007 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). https://orcid.org/0000-0002-0736-9199 biallelic_autosomal Autosomal recessive form https://orcid.org/0000-0002-5316-1399 An abnormality of the female internal genitalia. UMLS:C4025900 Abnormality of female internal genitalia human_phenotype HP:0000008 Abnormal morphology of female internal genitalia HP:0000008 An abnormality of the female internal genitalia. https://orcid.org/0000-0002-0736-9199 Dysfunction of the urinary bladder. HP:0004424 HP:0008731 UMLS:C3806583 Poor bladder function human_phenotype HP:0000009 Functional abnormality of the bladder HP:0000009 Dysfunction of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Repeated infections of the urinary tract. HP:0000094 SNOMEDCT_US:197927001 UMLS:C0262655 Frequent urinary tract infections Recurrent UTIs Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent human_phenotype HP:0000010 The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. Recurrent urinary tract infections HP:0000010 Repeated infections of the urinary tract. https://orcid.org/0000-0002-0736-9199 Frequent urinary tract infections Recurrent UTIs Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent https://orcid.org/0000-0002-5316-1399 A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. SNOMEDCT_US:397732007 SNOMEDCT_US:398064005 UMLS:C0005697 Lack of bladder control due to nervous system injury human_phenotype HP:0000011 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. Neurogenic bladder HP:0000011 A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. PMID:18095004 PMID:22400020 https://orcid.org/0000-0002-0736-9199 Lack of bladder control due to nervous system injury https://orcid.org/0000-0002-6548-5200 Urge incontinence is the strong, sudden need to urinate. SNOMEDCT_US:75088002 UMLS:C0085606 UMLS:C3544092 UMLS:C4020898 Overactive bladder Urgent micturition Urinary urgency human_phenotype Overactive bladder syndrome Urgency frequency syndrome HP:0000012 Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. Urinary urgency HP:0000012 Urge incontinence is the strong, sudden need to urinate. PMID:12559262 https://orcid.org/0000-0002-0736-9199 Overactive bladder https://orcid.org/0000-0002-0736-9199 Urinary urgency Underdevelopment of the uterus. HP:0001154 HP:0008637 SNOMEDCT_US:35850006 UMLS:C0266399 Hypoplastic uterus Rudimentary uterus Small uterus Underdeveloped uterus human_phenotype HP:0000013 Hypoplasia of the uterus HP:0000013 Underdevelopment of the uterus. https://orcid.org/0000-0002-0736-9199 Small uterus https://orcid.org/0000-0001-5208-3432 Underdeveloped uterus https://orcid.org/0000-0001-5208-3432 An abnormality of the urinary bladder. UMLS:C0149632 human_phenotype HP:0000014 Abnormality of the bladder HP:0000014 An abnormality of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Diverticulum (sac or pouch) in the wall of the urinary bladder. SNOMEDCT_US:197866008 UMLS:C0156273 Bladder diverticula human_phenotype HP:0000015 Bladder diverticulum HP:0000015 Diverticulum (sac or pouch) in the wall of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Bladder diverticula https://orcid.org/0000-0002-5316-1399 Inability to completely empty the urinary bladder during the process of urination. SNOMEDCT_US:130951007 SNOMEDCT_US:267064002 SNOMEDCT_US:449491000124101 UMLS:C0080274 Increased post-void residual urine volume human_phenotype HP:0000016 Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. Urinary retention HP:0000016 Inability to completely empty the urinary bladder during the process of urination. https://orcid.org/0000-0002-0736-9199 Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. SNOMEDCT_US:139394000 UMLS:C0028734 Nycturia human_phenotype HP:0000017 Often occurring as a result of heart insufficiency. Nocturia HP:0000017 Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. https://orcid.org/0009-0006-4530-3154 Nycturia https://orcid.org/0009-0006-4530-3154 true HP:0000018 Difficulty in beginning the process of urination. SNOMEDCT_US:5972002 UMLS:C0152032 Difficulty with flow human_phenotype HP:0000019 Urinary hesitancy HP:0000019 Difficulty in beginning the process of urination. https://orcid.org/0000-0002-0736-9199 Difficulty with flow https://orcid.org/0000-0001-5208-3432 Loss of the ability to control the urinary bladder leading to involuntary urination. HP:0006942 HP:0008681 SNOMEDCT_US:165232002 UMLS:C0042024 Bladder incontinence Loss of bladder control human_phenotype HP:0000020 Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. Urinary incontinence HP:0000020 Loss of the ability to control the urinary bladder leading to involuntary urination. PMID:12559262 https://orcid.org/0009-0006-4530-3154 Loss of bladder control https://orcid.org/0000-0001-5208-3432 Dilatation of the bladder postnatally. HP:0002838 UMLS:C1855311 human_phenotype HP:0000021 Megacystis HP:0000021 Dilatation of the bladder postnatally. https://orcid.org/0000-0002-0736-9199 An abnormality of the male internal genitalia. UMLS:C4025899 human_phenotype HP:0000022 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. Abnormal male internal genitalia morphology HP:0000022 An abnormality of the male internal genitalia. https://orcid.org/0000-0002-0736-9199 Protrusion of the contents of the abdominal cavity through the inguinal canal. MEDDRA:10022016 SNOMEDCT_US:396232000 UMLS:C0019294 human_phenotype HP:0000023 Inguinal hernia appears as a bulge in the groin. Inguinal hernia HP:0000023 Protrusion of the contents of the abdominal cavity through the inguinal canal. https://orcid.org/0000-0002-0736-9199 MEDDRA:10022016 Inguinal hernia The presence of inflammation of the prostate. SNOMEDCT_US:9713002 UMLS:C0033581 Inflammation of the prostate human_phenotype HP:0000024 Prostatitis HP:0000024 The presence of inflammation of the prostate. https://orcid.org/0000-0002-0736-9199 Inflammation of the prostate https://orcid.org/0000-0001-5208-3432 UMLS:C4025898 human_phenotype HP:0000025 Functional abnormality of male internal genitalia HP:0000025 Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. HP:0008649 SNOMEDCT_US:48723006 UMLS:C0151721 Decreased function of male gonad human_phenotype HP:0000026 Male hypogonadism HP:0000026 Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. https://orcid.org/0000-0002-0736-9199 Decreased function of male gonad https://orcid.org/0000-0001-5208-3432 Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. SNOMEDCT_US:425558002 SNOMEDCT_US:48188009 UMLS:C0004509 Absent sperm in semen human_phenotype HP:0000027 Azoospermia HP:0000027 Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. PMID:20514278 https://orcid.org/0000-0002-0736-9199 Absent sperm in semen https://orcid.org/0000-0001-5208-3432 Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. HP:0000797 Fyler:4493 SNOMEDCT_US:204878001 UMLS:C0010417 Cryptorchism Undescended testes Undescended testis human_phenotype HP:0000028 The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. Cryptorchidism HP:0000028 Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Cryptorchism https://orcid.org/0000-0001-5208-3432 Undescended testes Undescended testis Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. SNOMEDCT_US:17585008 UMLS:C0156312 Testicular degeneration human_phenotype HP:0000029 Testicular atrophy HP:0000029 Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. https://orcid.org/0000-0002-0736-9199 Testicular degeneration https://orcid.org/0000-0001-5208-3432 The presence of a gonadoblastoma of the testis. NCIT:C3754 UMLS:C1515283 human_phenotype Gonadoblastoma, male HP:0000030 Testicular gonadoblastoma HP:0000030 The presence of a gonadoblastoma of the testis. https://orcid.org/0000-0002-0736-9199 The presence of inflammation of the epididymis. SNOMEDCT_US:31070006 UMLS:C0014534 human_phenotype HP:0000031 Epididymitis HP:0000031 The presence of inflammation of the epididymis. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of male external genitalia. UMLS:C4025897 Abnormality of male external genitalia human_phenotype HP:0000032 Abnormal male external genitalia morphology HP:0000032 Any structural abnormality of male external genitalia. https://orcid.org/0000-0002-0736-9199 Ambiguous genitalia in an individual with XY genetic gender. UMLS:C4021823 Ambiguous genitalia in males human_phenotype HP:0000033 Ambiguous genitalia, male HP:0000033 Ambiguous genitalia in an individual with XY genetic gender. https://orcid.org/0000-0002-0736-9199 Ambiguous genitalia in males Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Hydrocele SNOMEDCT_US:26614003 SNOMEDCT_US:386152007 SNOMEDCT_US:55434001 UMLS:C1720771 Testicular hydrocele human_phenotype HP:0000034 Hydrocele testis HP:0000034 Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. PMID:32644551 An anomaly of the testicle (the male gonad). SNOMEDCT_US:55631001 UMLS:C0266423 Abnormality of the testis Anomaly of the testes human_phenotype HP:0000035 Abnormal testis morphology HP:0000035 An anomaly of the testicle (the male gonad). https://orcid.org/0000-0002-0736-9199 Abnormality of the testis Abnormality of the male external sex organ. UMLS:C4025896 Abnormality of the penis human_phenotype HP:0000036 Abnormal penis morphology HP:0000036 Abnormality of the penis Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. SNOMEDCT_US:111332007 UMLS:C0238395 human_phenotype HP:0000037 Male pseudohermaphroditism HP:0000037 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. https://orcid.org/0000-0002-0736-9199 true HP:0000038 Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. SNOMEDCT_US:406477003 UMLS:C0563449 human_phenotype HP:0000039 Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. Epispadias HP:0000039 Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. PMID:23650202 PMID:33085327 https://orcid.org/0000-0002-0736-9199 Penile length more than 2 SD above the mean for age. SNOMEDCT_US:88673001 UMLS:C0269011 Enlarged penis Long penis human_phenotype HP:0000040 Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. Long penis HP:0000040 Enlarged penis Long penis A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. SNOMEDCT_US:4287008 UMLS:C0221182 human_phenotype HP:0000041 The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. Chordee HP:0000041 A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. PMID:23650202 PMID:29570261 https://orcid.org/0000-0002-0736-9199 Lack of external genitalia in a male or female individual. UMLS:C1848869 Absent external genitalia human_phenotype HP:0000042 Absent external genitalia HP:0000042 Lack of external genitalia in a male or female individual. https://orcid.org/0000-0002-0736-9199 Absent external genitalia true HP:0000043 Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). HP:0003335 HP:0008224 SNOMEDCT_US:33927004 UMLS:C0271623 UMLS:C3489396 Hypogonadotrophic hypogonadism Low gonadotropins (secondary hypogonadism) human_phenotype Isolated hypogonadotropic hypogonadism HP:0000044 Hypogonadotropic hypogonadism HP:0000044 Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). PMID:23503957 https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord. UMLS:C4025895 Abnormality of the scrotum human_phenotype HP:0000045 Abnormal scrotum morphology HP:0000045 Apparently small scrotum for age. HP:0030276 SNOMEDCT_US:204912007 UMLS:C0431659 Hypoplastic scrotum Scrotal hypoplasia Smaller than typical growth of scrotum Underdeveloped scrotum human_phenotype HP:0000046 A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. Small scrotum HP:0000046 Apparently small scrotum for age. PMID:23650202 Smaller than typical growth of scrotum https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Underdeveloped scrotum Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Fyler:4504 SNOMEDCT_US:204888000 UMLS:C1691215 Hypospadia human_phenotype HP:0000047 Hypospadias HP:0000047 Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. PMID:21968448 https://orcid.org/0000-0002-0736-9199 Hypospadia https://orcid.org/0000-0001-5208-3432 Midline indentation or cleft of the scrotum. SNOMEDCT_US:236780002 UMLS:C0341787 Cleft of scrotum Scrotal cleft human_phenotype HP:0000048 A testis may or may not be present in each half of the scrotum. Bifid scrotum HP:0000048 Midline indentation or cleft of the scrotum. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Cleft of scrotum https://orcid.org/0000-0001-5208-3432 Superior margin of the scrotum superior to the base of the penis. UMLS:C1858539 Overriding scrotum Scrotum surrounds penis human_phenotype HP:0000049 A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. Shawl scrotum HP:0000049 Superior margin of the scrotum superior to the base of the penis. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Scrotum surrounds penis https://orcid.org/0000-0002-6548-5200 Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). HP:0008710 HP:0008721 UMLS:C1852534 Hypoplastic male genitalia Small male external genitalia Underdeveloped male genitalia human_phenotype HP:0000050 Hypoplastic male external genitalia HP:0000050 Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). https://orcid.org/0000-0002-0736-9199 Small male external genitalia Underdeveloped male genitalia https://orcid.org/0000-0001-5208-3432 Hypospadias with location of the urethral meatus in the perineal region. SNOMEDCT_US:204890004 UMLS:C0452148 human_phenotype HP:0000051 Perineal hypospadias HP:0000051 Hypospadias with location of the urethral meatus in the perineal region. PMID:8097257 https://orcid.org/0000-0002-0736-9199 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. UMLS:C4025894 human_phenotype HP:0000052 Urethral atresia, male HP:0000052 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males. https://orcid.org/0000-0002-0736-9199 The presence of abnormally large testes. UMLS:C1263023 Large testicles Large testis human_phenotype HP:0000053 Macroorchidism HP:0000053 The presence of abnormally large testes. https://orcid.org/0000-0002-0736-9199 Large testis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. HP:0000038 SNOMEDCT_US:34911001 UMLS:C4551492 Short penis Small penis human_phenotype HP:0000054 Micropenis HP:0000054 Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. PMID:15102623 https://orcid.org/0000-0002-0736-9199 Short penis Small penis Any structural abnormality of the female external genitalia. UMLS:C4021822 Abnormal female external genitalia Abnormality of female external genitalia human_phenotype HP:0000055 Abnormal female external genitalia morphology HP:0000055 Any structural abnormality of the female external genitalia. https://orcid.org/0000-0002-0736-9199 Abnormal female external genitalia https://orcid.org/0000-0002-5316-1399 Any structural abnormality of the clitoris. UMLS:C4025893 Abnormality of the clit Abnormality of the clitoris human_phenotype HP:0000056 Abnormal clitoris morphology HP:0000056 Any structural abnormality of the clitoris. https://orcid.org/0000-0002-0736-9199 Abnormality of the clit https://orcid.org/0000-0001-5208-3432 HP:0008665 human_phenotype HP:0000057 obsolete Clitoromegaly true HP:0000057 An anomaly of the labia, the externally visible portions of the vulva. UMLS:C4025892 Abnormality of the labia human_phenotype HP:0000058 Abnormal labia morphology HP:0000058 An anomaly of the labia, the externally visible portions of the vulva. https://orcid.org/0000-0002-0736-9199 Undergrowth of the outer labia. SNOMEDCT_US:289469003 UMLS:C0566899 Hypoplasia of labia majora Small labia majora Underdeveloped vaginal lips human_phenotype HP:0000059 Hypoplastic labia majora HP:0000059 Underdeveloped vaginal lips https://orcid.org/0000-0001-5208-3432 Undergrowth of the outer labia. https://orcid.org/0000-0002-0736-9199 Small labia majora Developmental hypoplasia of the clitoris. UMLS:C1844527 Hypoplastic clitoris Small clitoris Underdeveloped clit human_phenotype HP:0000060 Clitoral hypoplasia HP:0000060 Developmental hypoplasia of the clitoris. https://orcid.org/0000-0002-0736-9199 Small clitoris Underdeveloped clit https://orcid.org/0000-0001-5208-3432 Ambiguous genitalia in an individual with XX genetic gender. HP:0008690 UMLS:C1859980 UMLS:C4025891 Atypical appearance of female genitals human_phenotype Ambiguous genitalia due to virilization HP:0000061 Ambiguous genitalia, female HP:0000061 Ambiguous genitalia in an individual with XX genetic gender. https://orcid.org/0000-0002-0736-9199 Atypical appearance of female genitals https://orcid.org/0000-0002-6548-5200 A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. HP:0008685 HP:0008693 SNOMEDCT_US:21321009 UMLS:C0266362 Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia human_phenotype HP:0000062 Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. Ambiguous genitalia HP:0000062 A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. PMID:15102623 https://orcid.org/0000-0002-0736-9199 Ambiguous external genitalia Ambiguous external genitalia at birth Intersex genitalia Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. UMLS:C1837532 Fused inner lips human_phenotype HP:0000063 Fused labia minora HP:0000063 Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. https://orcid.org/0000-0002-0736-9199 Fused inner lips https://orcid.org/0000-0001-5208-3432 UMLS:C1849295 Underdeveloped inner lips human_phenotype HP:0000064 Hypoplastic labia minora HP:0000064 Underdeveloped inner lips https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:16924008 UMLS:C0404531 Enlarged vaginal lips Enlargement of the labia Enlargement of the vaginal lips human_phenotype HP:0000065 Labial hypertrophy HP:0000065 Enlargement of the labia https://orcid.org/0000-0001-5208-3432 Enlargement of the vaginal lips https://orcid.org/0000-0001-5208-3432 UMLS:C1850325 Hypoplastic labia Underdeveloped labia human_phenotype HP:0000066 Labial hypoplasia HP:0000066 Underdeveloped labia https://orcid.org/0000-0001-5208-3432 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. UMLS:C4025890 human_phenotype HP:0000067 Urethral atresia, female HP:0000067 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females. https://orcid.org/0000-0002-0736-9199 Congenital anomaly characterized by closure or failure to develop an opening in the urethra. UMLS:C1610065 Absent urethral opening Urethral opening absent human_phenotype HP:0000068 Urethral atresia HP:0000068 Congenital anomaly characterized by closure or failure to develop an opening in the urethra. https://orcid.org/0000-0002-0736-9199 An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. HP:0006001 UMLS:C1840382 Abnormality of the ureters Ureter issue Ureteral anomalies human_phenotype HP:0000069 Abnormality of the ureter HP:0000069 An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. https://orcid.org/0000-0002-0736-9199 A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. SNOMEDCT_US:12818004 UMLS:C0041960 human_phenotype HP:0000070 Ureterocele HP:0000070 A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. eMedicine:453993 The presence of a stenotic, i.e., constricted ureter. SNOMEDCT_US:95574003 UMLS:C0521618 Narrowing of the ureter Ureteric stenosis human_phenotype HP:0000071 Ureteral stenosis HP:0000071 The presence of a stenotic, i.e., constricted ureter. https://orcid.org/0000-0002-0736-9199 Narrowing of the ureter https://orcid.org/0000-0001-5208-3432 The distention of the ureter with urine. HP:0006003 SNOMEDCT_US:69758005 SNOMEDCT_US:95576001 UMLS:C0521620 UMLS:C4020897 Dilated ureter Megaureter Swelling of ureter Ureteral dilatation Wide ureter human_phenotype Uroureter HP:0000072 Hydroureter HP:0000072 The distention of the ureter with urine. PMID:33085364 https://orcid.org/0000-0002-0736-9199 Swelling of ureter https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. SNOMEDCT_US:49496001 UMLS:C0221365 Double ureter human_phenotype HP:0000073 Ureteral duplication HP:0000073 A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. https://orcid.org/0000-0002-0736-9199 Double ureter Blockage of urine flow from the renal pelvis to the proximal ureter. SNOMEDCT_US:95575002 UMLS:C0521619 Pelviureteric junction obstruction Ureteropelvic junction stenosis human_phenotype HP:0000074 Ureteropelvic junction obstruction HP:0000074 Blockage of urine flow from the renal pelvis to the proximal ureter. HPO_CONTRIBUTOR:Eurenomics_ewuehl A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. 2008-02-25T12:45:00Z SNOMEDCT_US:30275001 UMLS:C0266298 Duplex kidney Duplicated kidney Extra kidney human_phenotype Supernumerary kidney HP:0000075 Renal duplication HP:0000075 A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. https://orcid.org/0000-0002-0736-9199 Extra kidney https://orcid.org/0000-0001-5208-3432 Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. HP:0005998 HP:0006002 HP:0008667 Fyler:4510 SNOMEDCT_US:197811007 UMLS:C0042580 Ureteral reflux Ureteric reflux VUR Vesico-ureteral reflux Vesicoureteric reflux human_phenotype HP:0000076 Vesicoureteral reflux HP:0000076 Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. https://orcid.org/0000-0002-0736-9199 VUR An abnormality of the kidney. SNOMEDCT_US:44513007 SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C0266292 Abnormal kidney Abnormality of the kidney Renal anomalies Renal anomaly human_phenotype HP:0000077 The kidney is a paired organ whose primary function is the production of urine. Abnormality of the kidney HP:0000077 An abnormality of the kidney. https://orcid.org/0000-0002-0736-9199 Abnormal kidney Abnormality of the kidney An abnormality of the genital system. UMLS:C0281966 UMLS:C0744356 Genital abnormalities Genital abnormality Genital anomalies Genital defects human_phenotype Abnormality of the reproductive system HP:0000078 Abnormality of the genital system HP:0000078 An abnormality of the genital system. https://orcid.org/0000-0002-0736-9199 Genital abnormalities Genital abnormality Genital anomalies Genital defects Abnormality of the reproductive system An abnormality of the urinary system. UMLS:C4021821 Urinary tract abnormalities Urinary tract abnormality Urinary tract anomalies human_phenotype HP:0000079 Abnormality of the urinary system HP:0000079 An abnormality of the urinary system. https://orcid.org/0000-0002-0736-9199 Urinary tract abnormalities Urinary tract abnormality Urinary tract anomalies An abnormal functionality of the genital system. Abnormality of genital physiology UMLS:C4020896 UMLS:C4021820 Abnormality of reproductive system physiology Genital functional abnormality human_phenotype HP:0000080 Abnormality of reproductive system physiology HP:0000080 An abnormal functionality of the genital system. https://orcid.org/0000-0002-0736-9199 Abnormality of genital physiology Abnormality of reproductive system physiology Genital functional abnormality A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. 2008-02-25T12:45:00Z UMLS:C1858565 Double collecting system Double urinary collecting systems on intravenous pyelography Duplex collecting system Duplicated renal collecting system human_phenotype HP:0000081 Duplicated collecting system HP:0000081 A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. https://orcid.org/0000-0002-0736-9199 true HP:0000082 A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. HP:0000084 HP:0004723 SNOMEDCT_US:236423003 SNOMEDCT_US:42399005 UMLS:C0035078 UMLS:C1565489 UMLS:C1839604 Renal failure Renal failure in adulthood human_phenotype HP:0000083 Renal insufficiency HP:0000083 A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. https://orcid.org/0000-0002-0736-9199 Renal failure Renal failure in adulthood true HP:0000084 A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Fused kidneys Fyler:4507 SNOMEDCT_US:41729002 UMLS:C0221353 Horseshoe kidney Horseshoe kidneys human_phenotype HP:0000085 Horseshoe kidney HP:0000085 A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. https://orcid.org/0000-0002-0736-9199 Horseshoe kidney Horseshoe kidneys A developmental defect in which a kidney is located in an abnormal anatomic position. SNOMEDCT_US:16507009 UMLS:C0238207 Abnormal kidney location Displaced kidney Ectopic kidneys Renal ectopia human_phenotype HP:0000086 Ectopic kidney HP:0000086 A developmental defect in which a kidney is located in an abnormal anatomic position. https://orcid.org/0000-0002-0736-9199 Abnormal kidney location https://orcid.org/0000-0001-5208-3432 Displaced kidney true HP:0000087 true HP:0000088 Hypoplasia of the kidney. HP:0001968 HP:0004741 HP:0008641 SNOMEDCT_US:32659003 UMLS:C0266295 Hypoplastic kidney Hypoplastic kidneys Small kidneys Underdeveloped kidneys human_phenotype HP:0000089 Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. Renal hypoplasia HP:0000089 Hypoplasia of the kidney. https://orcid.org/0000-0002-0736-9199 Small kidneys Underdeveloped kidneys https://orcid.org/0000-0001-5208-3432 Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. HP:0004748 SNOMEDCT_US:204958008 UMLS:C0687120 juvenile nephronophthisis human_phenotype HP:0000090 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. Nephronophthisis HP:0000090 Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. HPO_CONTRIBUTOR:Eurenomics_fschaefer An abnormality of the renal tubules. UMLS:C4021826 Abnormality of the renal tubule Morphologic abnormality of the renal tubules human_phenotype HP:0000091 The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. Abnormal renal tubule morphology HP:0000091 An abnormality of the renal tubules. https://orcid.org/0000-0002-0736-9199 The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. HP:0005578 UMLS:C1858395 Renal tubular cell atrophy Tubular atrophy human_phenotype HP:0000092 Atrophic tubules must be distinguished from acute tubular injury as both can show extensive tubular epithelial changes. In acute tubular injury, tubules are often dilated and tubular basement membranes are smooth and maintain normal thickness, in contrast to the contracted tubules with thickened and wrinkled tubular basement membranes of tubular atrophy. Further, in acute tubular injury, tubules are usually back-to-back or mildly separated by interstitial edema, while in tubular atrophy tubules can be separated by interstitial fibrosis. Uniform thickening of tubular basement membranes without shrinkage and otherwise healthy epithelial cells can be seen in diabetic nephropathy. Duplication, or lamellation, thickening, and disruption of tubular basement membranes with tubular dilatation can be seen in medullary cystic kidney disease/nephronophthisis. Renal tubular atrophy HP:0000092 The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. PMID:27211375 https://orcid.org/0000-0002-0736-9199 Increased levels of protein in the urine. SNOMEDCT_US:29738008 UMLS:C0033687 High urine protein levels Protein in urine human_phenotype HP:0000093 Proteinuria HP:0000093 Increased levels of protein in the urine. https://orcid.org/0000-0002-0736-9199 High urine protein levels https://orcid.org/0000-0001-5208-3432 Protein in urine true HP:0000094 A structural anomaly of the glomerulus. HP:0033276 Abnormality of renal glomerulus morphology Morphologic abnormality of the renal glomerulus human_phenotype HP:0000095 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. Abnormal renal glomerulus morphology HP:0000095 A structural anomaly of the glomerulus. HPO_CONTRIBUTOR:Eurenomics_ewuehl PMID:18184729 Accumulation of scar tissue within the glomerulus. HP:0030761 Renal glomerular fibrosis SNOMEDCT_US:197661001 SNOMEDCT_US:82646005 UMLS:C0178664 Glomerulosclerosis human_phenotype HP:0000096 Glomerular sclerosis HP:0000096 Accumulation of scar tissue within the glomerulus. HPO_CONTRIBUTOR:Eurenomics_fschaefer Segmental accumulation of scar tissue in individual (but not all) glomeruli. HP:0004747 SNOMEDCT_US:236403004 SNOMEDCT_US:25821008 UMLS:C0017668 Focal and segmental glomerular sclerosis Focal and segmental glomerulosclerosis focal glomerulosclerosis human_phenotype HP:0000097 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). FSGS is characterized by focal and segmental occurrence of lesions with mesangial sclerosis, obliteration of glomerular capillaries with hyalinosis and intracapillary foam cells, formation of adhesions between the glomerular tuft and Bowman's capsule, and podocyte hypertrophy. FSGS is not a disease entity, but rather a pattern of injury with quite diverse clinical behavior, morphology, and possibly also pathogenesis. Focal segmental glomerulosclerosis HP:0000097 Segmental accumulation of scar tissue in individual (but not all) glomeruli. HPO_CONTRIBUTOR:Eurenomics_fschaefer PMID:16164633 A height above that which is expected according to age and gender norms. 2008-02-27T02:21:00Z HP:0001527 HP:0003515 HP:0003516 SNOMEDCT_US:248328003 UMLS:C0241240 Accelerated linear growth Increased body height Increased linear growth Tall stature human_phenotype HP:0000098 Tall stature HP:0000098 A height above that which is expected according to age and gender norms. https://orcid.org/0000-0002-0736-9199 Increased body height Tall stature Inflammation of the renal glomeruli. SNOMEDCT_US:36171008 UMLS:C0017658 Glomerular nephritis human_phenotype HP:0000099 Glomerulonephritis HP:0000099 Inflammation of the renal glomeruli. https://orcid.org/0000-0002-0736-9199 Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. HP:0000801 HP:0004718 HP:0008638 HP:0008727 SNOMEDCT_US:52254009 UMLS:C0027726 Nephrosis human_phenotype HP:0000100 In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. Nephrotic syndrome HP:0000100 Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. https://orcid.org/0000-0002-0736-9199 true HP:0000101 true HP:0000102 An increased rate of urine production. HP:0200060 SNOMEDCT_US:28442001 SNOMEDCT_US:56574000 SNOMEDCT_US:718402002 UMLS:C0032617 Increased urine output human_phenotype HP:0000103 An excessive volume of urination for an adult is more than 2.5 liters of urine per day. Polyuria HP:0000103 An increased rate of urine production. https://orcid.org/0000-0002-0736-9199 Increased urine output Agenesis, that is, failure of the kidney to develop during embryogenesis and development. HP:0000785 HP:0004745 HP:0008680 Fyler:4503 SNOMEDCT_US:204942005 UMLS:C0542519 Absent kidney Missing kidney Renal aplasia human_phenotype HP:0000104 Renal agenesis can occur as a unilateral or bilateral trait. Renal agenesis HP:0000104 Agenesis, that is, failure of the kidney to develop during embryogenesis and development. https://orcid.org/0000-0002-0736-9199 Absent kidney Missing kidney https://orcid.org/0000-0001-6908-9849 An abnormal increase in the size of the kidney. SNOMEDCT_US:300444006 UMLS:C0542518 Enlarged kidney Large kidneys Nephromegaly Renal enlargement human_phenotype Large kidney HP:0000105 The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilms tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography. Enlarged kidney HP:0000105 An abnormal increase in the size of the kidney. https://orcid.org/0000-0002-0736-9199 Enlarged kidney Large kidneys true HP:0000106 A fluid filled sac in the kidney. HP:0000088 HP:0000109 UMLS:C0022679 UMLS:C3887499 Kidney cyst human_phenotype Cystic kidney disease Cystic kidneys Renal cysts HP:0000107 Renal cyst HP:0000107 A fluid filled sac in the kidney. HPO_CONTRIBUTOR:Eurenomics_fschaefer Kidney cyst https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Cystic kidney disease Cystic kidneys https://orcid.org/0000-0002-5316-1399 Renal cysts https://orcid.org/0000-0002-5316-1399 The presence of multiple cysts at the border between the renal cortex and medulla. UMLS:C1968619 Corticomedullary renal cysts human_phenotype Renal corticomedullary cystic disease HP:0000108 Renal corticomedullary cysts HP:0000108 The presence of multiple cysts at the border between the renal cortex and medulla. https://orcid.org/0000-0002-0736-9199 true HP:0000109 The presence of developmental dysplasia of the kidney. HP:0000116 HP:0004721 SNOMEDCT_US:204949001 UMLS:C1619700 UMLS:C3536714 Dysplastic kidneys Renal adysplasia human_phenotype HP:0000110 Renal dysplasia HP:0000110 The presence of developmental dysplasia of the kidney. https://orcid.org/0000-0002-0736-9199 Increased number and size of the juxtaglomerular cells. UMLS:C1866496 human_phenotype HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111 Increased number and size of the juxtaglomerular cells. HPO_CONTRIBUTOR:Eurenomics_ewuehl A nonspecific term referring to disease or damage of the kidneys. Kidney damage Kidney disease SNOMEDCT_US:90708001 UMLS:C0022658 UMLS:C1408258 human_phenotype HP:0000112 Nephropathy HP:0000112 A nonspecific term referring to disease or damage of the kidneys. https://orcid.org/0000-0002-0736-9199 Kidney damage https://orcid.org/0000-0001-6908-9849 Kidney disease https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 The presence of multiple cysts in both kidneys. HP:0004716 HP:0004739 HP:0004740 HP:0008645 HP:0008673 HP:0008699 Fyler:4508 SNOMEDCT_US:82525005 UMLS:C0022680 UMLS:C1567435 Polycystic kidneys human_phenotype Polycystic kidney disease HP:0000113 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. Polycystic kidney dysplasia HP:0000113 The presence of multiple cysts in both kidneys. https://orcid.org/0000-0002-0736-9199 Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. HP:0000806 UMLS:C1839603 Proximal renal tubule defect Proximal renal tubulopathy Proximal tubular defect Proximal tubule dysfunction Selective proximal tubular damage human_phenotype HP:0000114 Proximal tubulopathy HP:0000114 Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. https://orcid.org/0000-0002-0736-9199 true HP:0000115 true HP:0000116 High urine phosphate in the presence of hypophosphatemia. UMLS:C1845169 Decreased renal tubular phosphate reabsorption Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate Tubular phosphate reabsorption low human_phenotype HP:0000117 Renal phosphate wasting HP:0000117 High urine phosphate in the presence of hypophosphatemia. https://orcid.org/0000-0002-0736-9199 A phenotypic abnormality. UMLS:C4021819 Organ abnormality human_phenotype HP:0000118 This is the root of the phenotypic abnormality subontology of the HPO. Phenotypic abnormality HP:0000118 A phenotypic abnormality. https://orcid.org/0000-0002-0736-9199 The presence of any abnormality of the genitourinary system. HP:0008658 HP:0008688 HP:0008704 HP:0008713 SNOMEDCT_US:287085006 SNOMEDCT_US:42030000 UMLS:C0042063 UMLS:C0080276 UMLS:C4020895 Abnormality of the GU system Genitourinary abnormality Genitourinary tract anomalies Genitourinary tract malformation Urogenital abnormalities Urogenital anomalies human_phenotype Genitourinary disease Genitourinary dysplasia HP:0000119 Abnormality of the genitourinary system HP:0000119 The presence of any abnormality of the genitourinary system. https://orcid.org/0000-0002-0736-9199 Abnormality of the GU system true HP:0000120 Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. SNOMEDCT_US:48638002 UMLS:C0027709 UMLS:C4280679 Too much calcium deposited in kidneys human_phenotype Increased calcium level in kidney HP:0000121 Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. Nephrocalcinosis HP:0000121 Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. https://orcid.org/0000-0002-0736-9199 Too much calcium deposited in kidneys https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Increased calcium level in kidney https://orcid.org/0000-0001-5208-3432 A unilateral form of agenesis of the kidney. Fyler:4509 SNOMEDCT_US:55726006 UMLS:C0266294 Absent kidney on one side Missing one kidney Single kidney Unilateral kidney agenesis human_phenotype HP:0000122 Unilateral renal agenesis HP:0000122 A unilateral form of agenesis of the kidney. https://orcid.org/0000-0002-0736-9199 Absent kidney on one side https://orcid.org/0000-0001-6908-9849 Missing one kidney https://orcid.org/0000-0001-6908-9849 Single kidney The presence of inflammation affecting the kidney. HP:0008634 SNOMEDCT_US:52845002 UMLS:C0027697 Kidney inflammation human_phenotype HP:0000123 Nephritis HP:0000123 The presence of inflammation affecting the kidney. https://orcid.org/0000-0002-0736-9199 Kidney inflammation https://orcid.org/0000-0001-6908-9849 Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. SNOMEDCT_US:95568003 UMLS:C0151747 Abnormal function of filtrating structures in kidney Renal tubular defect human_phenotype Renal tubular disease HP:0000124 Renal tubular dysfunction HP:0000124 Abnormal function of filtrating structures in kidney https://orcid.org/0000-0002-6548-5200 A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. SNOMEDCT_US:56108007 UMLS:C0221209 Sacral kidney human_phenotype HP:0000125 Pelvic kidney HP:0000125 A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. https://orcid.org/0000-0002-0736-9199 Sacral kidney https://orcid.org/0000-0001-6908-9849 Severe distention of the kidney with dilation of the renal pelvis and calices. Fyler:4502 SNOMEDCT_US:43064006 UMLS:C0020295 human_phenotype HP:0000126 Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. Hydronephrosis HP:0000126 Severe distention of the kidney with dilation of the renal pelvis and calices. https://orcid.org/0000-0002-0736-9199 A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). UMLS:C1846347 Loss of salt in urine Renal salt-wasting Salt wasting Salt-wasting human_phenotype HP:0000127 Renal salt wasting HP:0000127 A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). HPO_CONTRIBUTOR:Eurenomics_fschaefer Loss of salt in urine https://orcid.org/0000-0002-6548-5200 High urine potassium in the presence of hypokalemia. UMLS:C1846348 Renal K wasting human_phenotype HP:0000128 A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. Renal potassium wasting HP:0000128 High urine potassium in the presence of hypokalemia. https://orcid.org/0000-0002-0736-9199 Renal K wasting true HP:0000129 An abnormality of the uterus. HP:0008630 HP:0008692 SNOMEDCT_US:37849005 UMLS:C0266383 Abnormality of the uterus Uterine abnormalities Uterine malformations human_phenotype HP:0000130 Abnormality of the uterus HP:0000130 An abnormality of the uterus. https://orcid.org/0000-0002-0736-9199 Abnormality of the uterus Uterine abnormalities Uterine malformations The presence of a leiomyoma of the uterus. HP:0008642 NCIT:C3157 SNOMEDCT_US:146801000119103 SNOMEDCT_US:44598004 SNOMEDCT_US:95315005 UMLS:C0042133 Benign uterine leiomyomas Uterine fibroid human_phenotype HP:0000131 Leiomyoma is a benign neoplasm derived from smooth muscle cells. Uterine leiomyoma HP:0000131 The presence of a leiomyoma of the uterus. https://orcid.org/0000-0002-0736-9199 Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. HP:0100609 SNOMEDCT_US:386692008 UMLS:C0025323 Abnormally heavy bleeding during menstruation Abnormally heavy periods Hypermenorrhea human_phenotype HP:0000132 Menorrhagia HP:0000132 Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. PMID:22594864 https://orcid.org/0000-0002-0736-9199 Abnormally heavy bleeding during menstruation https://orcid.org/0000-0001-5208-3432 Abnormally heavy periods Hypermenorrhea PMID:22594864 Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. HP:0003243 SNOMEDCT_US:205681004 SNOMEDCT_US:38804009 SNOMEDCT_US:83579008 SNOMEDCT_US:95219002 UMLS:C0018051 UMLS:C0018055 UMLS:C0687149 Mixed gonadal dysgenesis Pure gonadal dysgenesis human_phenotype HP:0000133 Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus. Gonadal dysgenesis HP:0000133 Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. PMID:30969708 Decreased functionality of the female gonads, i.e., of the ovary. SNOMEDCT_US:16041008 UMLS:C0271578 Hypogonadism, female human_phenotype HP:0000134 Female hypogonadism HP:0000134 Decreased functionality of the female gonads, i.e., of the ovary. https://orcid.org/0000-0002-0736-9199 A decreased functionality of the gonad. SNOMEDCT_US:48130008 UMLS:C0020619 Decreased activity of gonads human_phenotype HP:0000135 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. Hypogonadism HP:0000135 A decreased functionality of the gonad. https://orcid.org/0000-0002-0736-9199 Decreased activity of gonads https://orcid.org/0000-0001-6908-9849 The presence of a bifid uterus. UMLS:C1850327 human_phenotype HP:0000136 A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. Bifid uterus HP:0000136 The presence of a bifid uterus. https://orcid.org/0000-0002-0736-9199 An abnormality of the ovary. SNOMEDCT_US:5552004 UMLS:C0029928 UMLS:C4021818 Abnormality of the ovaries Abnormality of the ovary human_phenotype Ovarian disease HP:0000137 Abnormality of the ovary HP:0000137 An abnormality of the ovary. https://orcid.org/0000-0002-0736-9199 Abnormality of the ovaries Abnormality of the ovary Ovarian disease The presence of one or more cysts of the ovary. HP:0000146 SNOMEDCT_US:79883001 UMLS:C0029927 Cystic abnormalities of the ovaries Cystic ovaries Ovarian cyst Ovarian cystic abnormality human_phenotype HP:0000138 Ovarian cyst HP:0000138 The presence of one or more cysts of the ovary. https://orcid.org/0000-0002-0736-9199 Ovarian cyst The presence of prolapse of the uterus. HP:0100824 SNOMEDCT_US:24976005 UMLS:C0042140 Sagging uterus human_phenotype HP:0000139 The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. Uterine prolapse HP:0000139 The presence of prolapse of the uterus. https://orcid.org/0000-0002-0736-9199 Sagging uterus https://orcid.org/0000-0001-6908-9849 An abnormality of the ovulation cycle. UMLS:C3549779 UMLS:C4025888 Abnormality of the menstrual cycle human_phenotype Menstrual abnormalities HP:0000140 Abnormality of the menstrual cycle HP:0000140 An abnormality of the ovulation cycle. PMID:23281358 https://orcid.org/0000-0002-0736-9199 Abnormality of the menstrual cycle Menstrual abnormalities Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. UMLS:C2219717 Abnormal absence of menstruation human_phenotype HP:0000141 Amenorrhea HP:0000141 Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. PMID:22594864 Abnormal absence of menstruation https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the vagina. HP:0008650 UMLS:C1856023 Vaginal malformation human_phenotype HP:0000142 Abnormal vagina morphology HP:0000142 Any structural abnormality of the vagina. https://orcid.org/0000-0002-0736-9199 The presence of a fistula between the vagina and the rectum. MEDDRA:10051097 SNOMEDCT_US:65619001 UMLS:C0034895 Abnormal connection between rectum and vagina human_phenotype HP:0000143 Rectovaginal fistula HP:0000143 The presence of a fistula between the vagina and the rectum. https://orcid.org/0000-0002-0736-9199 MEDDRA:10051097 Rectovaginal fistula Abnormal connection between rectum and vagina https://orcid.org/0000-0002-6548-5200 SNOMEDCT_US:17276009 UMLS:C0520927 Abnormal fertility Decreased fertility human_phenotype HP:0000144 Decreased fertility HP:0000144 Abnormal fertility https://orcid.org/0000-0002-5316-1399 Decreased fertility UMLS:C1856006 Transverse vaginal membrane human_phenotype HP:0000145 Transverse vaginal septum HP:0000145 true HP:0000146 HP:0008644 HP:0008657 SNOMEDCT_US:69878008 UMLS:C0032460 UMLS:C1136382 Polycystic ovary Sclerocystic ovaries human_phenotype Polycystic ovary disease HP:0000147 Polycystic ovaries HP:0000147 Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. SNOMEDCT_US:87380008 UMLS:C1321884 Abnormally closed or absent vagina human_phenotype HP:0000148 Vaginal atresia HP:0000148 Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. https://orcid.org/0000-0002-0736-9199 Abnormally closed or absent vagina https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 The presence of a gonadoblastoma of the ovary. NCIT:C3754 SNOMEDCT_US:716594002 UMLS:C1518716 Gonadoblastoma, female human_phenotype HP:0000149 Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. Ovarian gonadoblastoma HP:0000149 The presence of a gonadoblastoma of the ovary. eMedicine:986581 https://orcid.org/0000-0002-0736-9199 The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. HP:0006745 NCIT:C3754 SNOMEDCT_US:74751003 UMLS:C0206661 human_phenotype HP:0000150 Gonadoblastoma HP:0000150 The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. https://orcid.org/0000-0002-0736-9199 A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. SNOMEDCT_US:248942000 UMLS:C0425913 Absent uterus uterus absent human_phenotype HP:0000151 Aplasia of the uterus HP:0000151 Absent uterus uterus absent An abnormality of head and neck. UMLS:C4021817 Abnormality of head or neck Head and neck abnormality human_phenotype HP:0000152 Abnormality of head or neck HP:0000152 An abnormality of head and neck. https://orcid.org/0000-0002-0736-9199 Abnormality of head or neck Head and neck abnormality An abnormality of the mouth. SNOMEDCT_US:128334002 UMLS:C0026633 Abnormal mouth Abnormality of the mouth human_phenotype HP:0000153 Abnormality of the mouth HP:0000153 An abnormality of the mouth. https://orcid.org/0000-0002-0736-9199 Abnormal mouth https://orcid.org/0000-0002-5316-1399 Abnormality of the mouth Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). HP:0000181 HP:0002052 SNOMEDCT_US:40159009 UMLS:C0024433 Broad mouth Large mouth Large oral aperture Macrostomia Wide mouth human_phenotype HP:0000154 The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. Wide mouth HP:0000154 Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). PMID:19125428 Broad mouth Large mouth Large oral aperture https://orcid.org/0000-0001-5889-4463 Wide mouth Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. Mouth sore SNOMEDCT_US:26284000 UMLS:C0149745 Mouth ulcer Oral mucosal ulceration human_phenotype HP:0000155 Oral ulcer HP:0000155 Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. https://orcid.org/0000-0002-0736-9199 Mouth sore https://orcid.org/0000-0001-5889-4463 Mouth ulcer https://orcid.org/0000-0001-5889-4463 true HP:0000156 Any abnormality of the tongue. UMLS:C0878638 Abnormal tongue Abnormality of the tongue Glossal abnormality Lingual abnormality Tongue abnormality human_phenotype HP:0000157 Abnormality of the tongue HP:0000157 Any abnormality of the tongue. https://orcid.org/0000-0002-0736-9199 Abnormal tongue https://orcid.org/0000-0002-5316-1399 Abnormality of the tongue Glossal abnormality https://orcid.org/0000-0001-5889-4463 Lingual abnormality https://orcid.org/0000-0001-5889-4463 Tongue abnormality Increased length and width of the tongue. HP:0000203 Glossal hypertrophy Lingual hyperplasia Lingual hypertrophy SNOMEDCT_US:25273001 UMLS:C0024421 Abnormally large tongue Hyperplasia of the tongue Hypertrophy of the tongue Increased size of tongue Large tongue Tongue hypertrophy human_phenotype HP:0000158 Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. Macroglossia HP:0000158 Increased length and width of the tongue. PMID:19125428 Glossal hypertrophy https://orcid.org/0000-0001-5889-4463 Lingual hyperplasia https://orcid.org/0000-0001-5889-4463 Lingual hypertrophy https://orcid.org/0000-0001-5889-4463 Abnormally large tongue https://orcid.org/0000-0001-5889-4463 Increased size of tongue https://orcid.org/0000-0001-5889-4463 Large tongue An abnormality of the lip. UMLS:C2183966 Abnormal lip Abnormality of the lip Lip abnormality Anomaly of lip Deformity of lip Malformation of lip human_phenotype HP:0000159 Abnormal lip morphology HP:0000159 An abnormality of the lip. https://orcid.org/0000-0002-0736-9199 Abnormal lip https://orcid.org/0000-0002-5316-1399 Abnormality of the lip Lip abnormality Anomaly of lip https://orcid.org/0000-0001-5889-4463 Deformity of lip https://orcid.org/0000-0001-5889-4463 Malformation of lip https://orcid.org/0000-0001-5889-4463 Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). HP:0002261 HP:0009095 HP:0009096 SNOMEDCT_US:14582003 UMLS:C0026034 Microstomia Narrow mouth Small mouth Small oral aperture human_phenotype HP:0000160 The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. Narrow mouth HP:0000160 Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). PMID:19125428 Narrow mouth Small mouth A type of cleft lip presenting as a midline (median) gap in the upper lip. UMLS:C1850256 Central cleft upper lip Midline cleft lip human_phenotype HP:0000161 Median cleft upper lip HP:0000161 A type of cleft lip presenting as a midline (median) gap in the upper lip. https://orcid.org/0000-0002-0736-9199 Central cleft upper lip https://orcid.org/0000-0001-5889-4463 Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Posterior displacement of the tongue SNOMEDCT_US:3639002 UMLS:C0267048 UMLS:C4280678 Lingual retraction Retraction of the tongue human_phenotype HP:0000162 Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. Glossoptosis HP:0000162 Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. PMID:19125428 https://orcid.org/0000-0002-0736-9199 Posterior displacement of the tongue https://orcid.org/0000-0001-5889-4463 Lingual retraction https://orcid.org/0000-0001-5889-4463 Retraction of the tongue https://orcid.org/0000-0001-5889-4463 Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. UMLS:C4025887 Abnormality of the oral cavity human_phenotype HP:0000163 Abnormal oral cavity morphology HP:0000163 Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. https://orcid.org/0000-0002-0736-9199 Abnormality of the oral cavity Any abnormality of the teeth. HP:0001567 HP:0006296 HP:0006348 SNOMEDCT_US:422775003 UMLS:C0040427 UMLS:C0262444 Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality Dental anomalies human_phenotype Abnormality of the teeth Dental problem Dental problems Tooth abnormalities HP:0000164 Any abnormality of the primary (deciduous) or permanent teeth. Abnormality of the dentition HP:0000164 Any abnormality of the teeth. https://orcid.org/0000-0002-9338-3017 Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality Dental anomalies Abnormality of the teeth Dental problem Dental problems Tooth abnormalities true HP:0000165 Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation. Severe gum disease UMLS:C4025886 Early-onset aggressive periodontitis Prepubertal periodontitis Severe aggressive periodontitis Severe periodontal disease Severe pyorrhea human_phenotype HP:0000166 Severe periodontitis HP:0000166 Increased susceptibility to periodontitis, as manifested by severe periodontal infection with rapid alveolar bone loss, tooth mobility, and premature tooth exfoliation. PMID:39274292 PMID:39412215 Severe gum disease https://orcid.org/0000-0001-5889-4463 Severe periodontal disease https://orcid.org/0000-0001-5889-4463 Severe pyorrhea https://orcid.org/0000-0001-5889-4463 true HP:0000167 Any abnormality of the gingiva (also known as gums). UMLS:C4021816 Abnormality of the gums Gingival abnormality human_phenotype HP:0000168 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. Abnormality of the gingiva HP:0000168 Any abnormality of the gingiva (also known as gums). https://orcid.org/0000-0002-0736-9199 Abnormality of the gums https://orcid.org/0000-0001-5889-4463 The presence of fibrosis of the gingiva. NCIT:C3041 SNOMEDCT_US:109620006 SNOMEDCT_US:58569000 UMLS:C0016049 UMLS:C0399440 UMLS:C4280677 Gingival fibroma Gingival fibrous nodules Hereditary gingival fibromatosis Idiopathic gingival hyperplasia human_phenotype HP:0000169 Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. Gingival fibromatosis HP:0000169 The presence of fibrosis of the gingiva. https://orcid.org/0000-0002-0736-9199 Gingival fibrous nodules https://orcid.org/0000-0002-0736-9199 Hereditary gingival fibromatosis https://orcid.org/0000-0001-5889-4463 Idiopathic gingival hyperplasia https://orcid.org/0000-0001-5889-4463 true HP:0000170 Decreased length and width of the tongue. HP:0000226 HP:0009079 SNOMEDCT_US:249380003 SNOMEDCT_US:32614006 UMLS:C0025988 UMLS:C0426492 Abnormally small tongue Decreased size of tongue Hypoglossia Hypoplasia of the tongue Hypoplastic tongue Lingual hypoplasia Rudimentary tongue Small tongue Underdevelopment of the tongue human_phenotype HP:0000171 Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Microglossia HP:0000171 Decreased length and width of the tongue. PMID:19125428 Abnormally small tongue https://orcid.org/0000-0001-5889-4463 Underdevelopment of the tongue https://orcid.org/0000-0001-5889-4463 Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. UMLS:C4025885 Abnormality of palatine uvula Abnormality of the uvula human_phenotype HP:0000172 Abnormal uvula morphology HP:0000172 Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. https://orcid.org/0000-0002-0736-9199 Abnormality of palatine uvula https://orcid.org/0000-0001-5889-4463 Abnormality of the uvula true HP:0000173 Any abnormality of the palate, i.e., of roof of the mouth. UMLS:C4021815 Abnormality of the palate Abnormality of the roof of the mouth Palatal anomaly Palate abnormality human_phenotype HP:0000174 Abnormal palate morphology HP:0000174 Any abnormality of the palate, i.e., of roof of the mouth. https://orcid.org/0000-0002-0736-9199 Abnormality of the palate Abnormality of the roof of the mouth https://orcid.org/0000-0001-5889-4463 Palatal anomaly https://orcid.org/0000-0001-5208-3432 Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). HP:0410004 Cleft secondary palate Fyler:4876 SNOMEDCT_US:63567004 SNOMEDCT_US:87979003 UMLS:C0008925 UMLS:C2981150 Cleft hard and soft palate Cleft of hard and soft palate Cleft of palate Cleft palate Cleft roof of mouth Palatoschisis Uranostaphyloschisis human_phenotype HP:0000175 Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. Cleft palate HP:0000175 Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). https://orcid.org/0000-0002-0736-9199 Cleft hard and soft palate https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Cleft of hard and soft palate https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Cleft palate Cleft roof of mouth https://orcid.org/0000-0001-5889-4463 Palatoschisis https://orcid.org/0000-0001-5889-4463 Uranostaphyloschisis https://orcid.org/0000-0001-5889-4463 Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. HP:0000208 HP:0002746 HP:0009091 SNOMEDCT_US:43437003 UMLS:C0432103 UMLS:C4020894 Partial thickness cleft hard palate human_phenotype HP:0000176 Submucous cleft hard palate HP:0000176 Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. PMID:19779505 https://orcid.org/0000-0002-0736-9199 Partial thickness cleft hard palate https://orcid.org/0000-0001-5889-4463 An abnormality of the upper lip. UMLS:C4025884 Abnormality of upper lip Anomaly of the upper lip Deformity of the upper lip Malformation of the upper lip human_phenotype HP:0000177 Abnormal upper lip morphology HP:0000177 An abnormality of the upper lip. https://orcid.org/0000-0002-0736-9199 Abnormality of upper lip Anomaly of the upper lip https://orcid.org/0000-0001-5889-4463 Deformity of the upper lip https://orcid.org/0000-0001-5889-4463 Malformation of the upper lip https://orcid.org/0000-0001-5889-4463 An abnormality of the lower lip. UMLS:C4025883 Abnormality of lower lip Anomaly of the lower lip Deformity of the lower lip Malformation of the lower lip human_phenotype HP:0000178 Abnormal lower lip morphology HP:0000178 An abnormality of the lower lip. https://orcid.org/0000-0002-0736-9199 Abnormality of lower lip Anomaly of the lower lip https://orcid.org/0000-0001-5889-4463 Deformity of the lower lip https://orcid.org/0000-0001-5889-4463 Malformation of the lower lip https://orcid.org/0000-0001-5889-4463 Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). HP:0000170 UMLS:C1839739 UMLS:C2053437 Full lower lip vermilion Increased height of lower lip vermilion Increased volume of lower lip Increased volume of lower lip vermilion Plump lower lip Prominent lower lip Thick vermilion border of lower lip Prominent lower lip vermilion Thick red part of the lower lip human_phenotype Full lower lip Thick lower lip HP:0000179 Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. Thick lower lip vermilion HP:0000179 Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). PMID:19125428 https://orcid.org/0000-0002-0736-9199 Full lower lip vermilion https://orcid.org/0000-0001-5889-4463 Increased height of lower lip vermilion https://orcid.org/0000-0001-5889-4463 Increased volume of lower lip https://orcid.org/0000-0001-5889-4463 Increased volume of lower lip vermilion https://orcid.org/0000-0001-5889-4463 Plump lower lip https://orcid.org/0000-0001-5889-4463 Prominent lower lip Prominent lower lip vermilion https://orcid.org/0000-0001-5889-4463 Thick red part of the lower lip https://orcid.org/0000-0001-5889-4463 Full lower lip Thick lower lip Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. SNOMEDCT_US:253752000 UMLS:C0431564 Bumpy tongue Lingual lobules Lobulate tongue human_phenotype HP:0000180 Lobulated tongue can bilobed, trilobed, or show multiple lobes. Lobulated tongue HP:0000180 Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. PMID:19125428 Bumpy tongue https://orcid.org/0000-0001-5889-4463 Lingual lobules https://orcid.org/0000-0001-5889-4463 true HP:0000181 UMLS:C4025882 Abnormality of lingual movement Movement abnormality of the tongue human_phenotype HP:0000182 Movement abnormality of the tongue HP:0000182 Abnormality of lingual movement https://orcid.org/0000-0001-5889-4463 Movement abnormality of the tongue Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia. human_phenotype HP:0000183 Tongue muscle weakness HP:0000183 true HP:0000184 Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. SNOMEDCT_US:253997002 UMLS:C0432098 Cleft muscular palate Cleft of soft palate Cleft velum human_phenotype HP:0000185 Cleft soft palate HP:0000185 Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. https://orcid.org/0000-0002-0736-9199 Cleft muscular palate https://orcid.org/0000-0001-5889-4463 Cleft of soft palate https://orcid.org/0000-0001-5208-3432 Cleft velum https://orcid.org/0000-0001-5889-4463 true HP:0000186 UMLS:C1857500 UMLS:C4280675 Broad alveolar margins Widened alveolar ridges human_phenotype Broad alveolar processes of jaw Wide alveolar margins Wide alveolar processes of jaw Wide gum ridges HP:0000187 Broad alveolar ridges HP:0000187 Broad alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 Wide alveolar margins https://orcid.org/0000-0001-5889-4463 Wide alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 Wide gum ridges https://orcid.org/0000-0001-5889-4463 Decreased width of the upper lip. HP:0200087 UMLS:C1848977 Decreased height of upper lip Decreased upper labial height Decreased upper labial length Decreased vertical length of upper lip Short upper lip Shortening of upper lip Vertical deficiency of upper lip human_phenotype HP:0000188 Short upper lip HP:0000188 Decreased width of the upper lip. https://orcid.org/0000-0002-0736-9199 Decreased height of upper lip https://orcid.org/0000-0001-5889-4463 Decreased upper labial height https://orcid.org/0000-0001-5889-4463 Decreased upper labial length https://orcid.org/0000-0001-5889-4463 Decreased vertical length of upper lip https://orcid.org/0000-0001-5889-4463 Short upper lip Shortening of upper lip https://orcid.org/0000-0001-5889-4463 Vertical deficiency of upper lip https://orcid.org/0000-0001-5889-4463 Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). UMLS:C1398312 Decreased palatal width Decreased transverse dimension of palate Narrow palate Narrow roof of mouth human_phenotype HP:0000189 Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. Narrow palate HP:0000189 Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). PMID:19125428 Decreased palatal width https://orcid.org/0000-0001-5889-4463 Decreased transverse dimension of palate https://orcid.org/0000-0001-5889-4463 Narrow palate Narrow roof of mouth https://orcid.org/0000-0001-5889-4463 An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. UMLS:C4025881 Abnormality of frenum of tongue Abnormality of lingual frenum Abnormality of oral frenula Abnormality of oral frenum human_phenotype HP:0000190 A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum. Abnormal oral frenulum morphology HP:0000190 An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. PMID:23633765 https://orcid.org/0000-0002-0736-9199 Abnormality of frenum of tongue https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of lingual frenum https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of oral frenum https://orcid.org/0000-0001-5889-4463 Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. UMLS:C4021814 Accessory oral frenum Extra oral frenulum Extra oral frenum Multiple oral frenula Supernumerary oral frenulum Supernumerary oral frenum human_phenotype HP:0000191 This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. Accessory oral frenulum HP:0000191 Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. PMID:19125428 Accessory oral frenum https://orcid.org/0000-0001-5889-4463 Extra oral frenum https://orcid.org/0000-0001-5889-4463 Supernumerary oral frenum https://orcid.org/0000-0001-5889-4463 true HP:0000192 Uvula separated into two parts most easily seen at the tip. HP:0000173 HP:0410032 SNOMEDCT_US:18910001 UMLS:C0266122 Bifid palatine uvula Cleft of uvula Cleft uvula Forked uvula Split uvula Uvula bifida human_phenotype HP:0000193 Bifid uvula HP:0000193 Uvula separated into two parts most easily seen at the tip. PMID:19125428 Bifid palatine uvula https://orcid.org/0000-0001-5889-4463 Forked uvula https://orcid.org/0000-0001-5889-4463 Split uvula https://orcid.org/0000-0001-5889-4463 A facial appearance characterized by a permanently or nearly permanently opened mouth. SNOMEDCT_US:262016004 UMLS:C0240379 Gaped jawed appearance Gaped mouthed appearance Open mouth Slack jawed appearance human_phenotype Open mouth appearance HP:0000194 Open mouth HP:0000194 A facial appearance characterized by a permanently or nearly permanently opened mouth. https://orcid.org/0000-0002-0736-9199 Gaped jawed appearance https://orcid.org/0000-0001-5889-4463 Gaped mouthed appearance https://orcid.org/0000-0001-5889-4463 Open mouth Slack jawed appearance https://orcid.org/0000-0001-5889-4463 Open mouth appearance https://orcid.org/0000-0002-5316-1399 true HP:0000195 Depression located on the vermilion of the lower lip, usually paramedian. UMLS:C1861544 human_phenotype HP:0000196 A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). Lower lip pit HP:0000196 Depression located on the vermilion of the lower lip, usually paramedian. PMID:19125428 https://orcid.org/0009-0006-4530-3154 Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. UMLS:C4025880 Abnormality of parotid gland Anomaly of the parotid gland human_phenotype HP:0000197 Abnormal parotid gland morphology HP:0000197 Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. https://orcid.org/0000-0002-0736-9199 Anomaly of the parotid gland https://orcid.org/0000-0001-5889-4463 UMLS:C1858569 UMLS:C4280674 Absence of parotid duct Absent stensen duct Failure of development of parotid duct Failure of development of stensen duct Missing parotid duct Missing stensen duct Agenesis of parotid duct Agenesis of stensen duct human_phenotype HP:0000198 Absence of Stensen duct HP:0000198 Absence of parotid duct https://orcid.org/0000-0001-5889-4463 Failure of development of parotid duct https://orcid.org/0000-0001-5889-4463 Failure of development of stensen duct https://orcid.org/0000-0001-5889-4463 Missing parotid duct https://orcid.org/0000-0001-5889-4463 Missing stensen duct https://orcid.org/0000-0001-5889-4463 Agenesis of parotid duct https://orcid.org/0000-0001-5889-4463 Agenesis of stensen duct https://orcid.org/0000-0001-5889-4463 UMLS:C0241438 Lingual nodules human_phenotype HP:0000199 Tongue nodules HP:0000199 Lingual nodules https://orcid.org/0000-0001-5889-4463 The presence of an abnormally short lingual frenulum. Hypoplasia of lingual frenulum Hypoplasia of lingual frenum Hypoplasia of tongue frenulum Hypoplasia of tongue frenum SNOMEDCT_US:249388005 UMLS:C0426501 UMLS:C4280673 Deficiency of lingual frenulum Short lingual frenum Short tongue frenulum Short tongue frenum Tight lingual frenulum human_phenotype HP:0000200 Short lingual frenulum HP:0000200 The presence of an abnormally short lingual frenulum. https://orcid.org/0000-0002-0736-9199 Hypoplasia of lingual frenulum https://orcid.org/0000-0001-5889-4463 Hypoplasia of lingual frenum https://orcid.org/0000-0001-5889-4463 Hypoplasia of tongue frenulum https://orcid.org/0000-0001-5889-4463 Hypoplasia of tongue frenum https://orcid.org/0000-0001-5889-4463 Deficiency of lingual frenulum https://orcid.org/0000-0001-5889-4463 Short lingual frenum https://orcid.org/0000-0001-5889-4463 Short tongue frenum https://orcid.org/0000-0001-5889-4463 Tight lingual frenulum https://orcid.org/0000-0001-5889-4463 Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. SNOMEDCT_US:4602007 UMLS:C0031900 Pierre Robin sequence Pierre-robin anomaly Pierre-robin deformity Pierre-robin malformation Robin sequence human_phenotype HP:0000201 Pierre-Robin sequence HP:0000201 Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. https://orcid.org/0000-0002-0736-9199 Pierre-robin anomaly https://orcid.org/0000-0001-5889-4463 Pierre-robin deformity https://orcid.org/0000-0001-5889-4463 Pierre-robin malformation https://orcid.org/0000-0001-5889-4463 The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. SNOMEDCT_US:253983005 SNOMEDCT_US:66948001 UMLS:C0158646 UMLS:C4021813 Cleft of the mouth Oral cleft Oral clefting Cleft lip, cleft palate human_phenotype Cleft lip/palate HP:0000202 Orofacial cleft HP:0000202 The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. PMID:21331089 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html Cleft of the mouth https://orcid.org/0000-0001-5889-4463 true HP:0000203 A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Fyler:4875 SNOMEDCT_US:80281008 UMLS:C0008924 Cheiloschisis of upper lip Cleft upper lip Harelip human_phenotype Cleft of upper lip HP:0000204 Cleft upper lip HP:0000204 A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. https://orcid.org/0000-0002-0736-9199 Cheiloschisis of upper lip https://orcid.org/0000-0001-5889-4463 Cleft upper lip Harelip https://orcid.org/0000-0001-5889-4463 Cleft of upper lip An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. UMLS:C1832130 Pursed lips Tightly closed lips human_phenotype HP:0000205 Pursed lips HP:0000205 An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. https://orcid.org/0000-0002-0736-9199 Pursed lips Tightly closed lips https://orcid.org/0000-0001-5889-4463 Inflammation of the tongue. SNOMEDCT_US:45534005 UMLS:C0017675 Inflammation of the tongue Lingual inflammation Smooth swollen tongue human_phenotype HP:0000206 Glossitis HP:0000206 Inflammation of the tongue. https://orcid.org/0009-0006-4530-3154 Inflammation of the tongue https://orcid.org/0000-0001-5889-4463 Lingual inflammation https://orcid.org/0000-0001-5889-4463 Smooth swollen tongue https://orcid.org/0000-0001-5889-4463 The presence of a triangular form of the mouth. UMLS:C1849341 Triangular mouth Triangular shaped mouth Triangular shaped oral aperture human_phenotype HP:0000207 Triangular mouth HP:0000207 The presence of a triangular form of the mouth. https://orcid.org/0000-0002-0736-9199 Triangular mouth Triangular shaped mouth Triangular shaped oral aperture https://orcid.org/0000-0001-5889-4463 true HP:0000208 true HP:0000209 true HP:0000210 Limitation in the ability to open the mouth. Decrease in jaw mobility Decrease in jaw movement Decrease in jaw opening Decrease in mandibular mobility Decrease in mandibular movement Decrease in mandibular opening Limited jaw mobility Limited jaw movement Limited jaw opening Limited mandibular mobility Limited mandibular opening Limited mouth opening SNOMEDCT_US:87866006 UMLS:C0041105 UMLS:C1848474 UMLS:C4228933 UMLS:C4280672 Lockjaw Pain of muscles of mastication human_phenotype HP:0000211 Trismus HP:0000211 Limitation in the ability to open the mouth. https://orcid.org/0000-0002-0736-9199 Decrease in jaw mobility https://orcid.org/0000-0001-5889-4463 Decrease in jaw movement https://orcid.org/0000-0001-5889-4463 Decrease in jaw opening https://orcid.org/0000-0001-5889-4463 Decrease in mandibular mobility https://orcid.org/0000-0001-5889-4463 Decrease in mandibular movement https://orcid.org/0000-0001-5889-4463 Decrease in mandibular opening https://orcid.org/0000-0001-5889-4463 Limited jaw mobility https://orcid.org/0000-0001-5889-4463 Limited jaw movement https://orcid.org/0000-0001-5889-4463 Limited jaw opening https://orcid.org/0000-0001-5889-4463 Limited mandibular mobility https://orcid.org/0000-0001-5889-4463 Limited mandibular opening https://orcid.org/0000-0001-5889-4463 Limited mouth opening Lockjaw https://orcid.org/0000-0002-6548-5200 Pain of muscles of mastication https://orcid.org/0000-0001-5889-4463 Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. HP:0000195 SNOMEDCT_US:441787004 SNOMEDCT_US:441798003 SNOMEDCT_US:54711002 UMLS:C0017566 UMLS:C0017567 UMLS:C0376480 Gingival enlargement Gingival hyperplasia Gum enlargement Gum hypertrophy Hypertrophic gingivitis human_phenotype Oral soft tissue hyperplasia HP:0000212 This finding is to be distinguished from overgrowth of the alveolar ridge. Gingival overgrowth HP:0000212 Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. PMID:19125428 Gingival enlargement https://orcid.org/0000-0001-5889-4463 Gum enlargement https://orcid.org/0000-0001-5889-4463 true HP:0000213 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. UMLS:C1857697 UMLS:C4280670 UMLS:C4280671 Labial telangiectasia Lip telangiectases Telangiectasia of the lips human_phenotype Angioectasias of the lip Labial angioectasias Spider veins of the lip HP:0000214 Lip telangiectasia HP:0000214 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. https://orcid.org/0000-0002-0736-9199 Labial telangiectasia https://orcid.org/0000-0001-5889-4463 Telangiectasia of the lips https://orcid.org/0000-0002-5316-1399 Angioectasias of the lip https://orcid.org/0000-0001-5889-4463 Labial angioectasias https://orcid.org/0000-0001-5889-4463 Spider veins of the lip https://orcid.org/0000-0001-5889-4463 Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). HP:0000231 UMLS:C1846423 Full upper lip Full upper lip vermilion Increased height of upper lip vermilion Increased volume of upper lip Increased volume of upper lip vermilion Plump upper lip Prominent upper lip Thick upper lip Thick vermilion border of upper lip Prominent upper lip vermilion Thick red part of the upper lip human_phenotype HP:0000215 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. Thick upper lip vermilion HP:0000215 Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). PMID:19125428 Full upper lip https://orcid.org/0000-0001-5889-4463 Full upper lip vermilion https://orcid.org/0000-0001-5889-4463 Increased height of upper lip vermilion https://orcid.org/0000-0001-5889-4463 Increased volume of upper lip https://orcid.org/0000-0001-5889-4463 Increased volume of upper lip vermilion https://orcid.org/0000-0001-5889-4463 Plump upper lip https://orcid.org/0000-0001-5889-4463 Prominent upper lip Thick upper lip https://orcid.org/0009-0006-4530-3154 Prominent upper lip vermilion https://orcid.org/0000-0001-5889-4463 Thick red part of the upper lip https://orcid.org/0000-0001-5889-4463 UMLS:C1839276 Secondary alveolar ridges human_phenotype HP:0000216 Broad secondary alveolar ridge HP:0000216 Dryness of the mouth due to salivary gland dysfunction. HP:0002709 HP:0100756 Decreased salivary flow SNOMEDCT_US:300268000 SNOMEDCT_US:56893005 SNOMEDCT_US:87715008 UMLS:C0043352 Dry mouth Dry mouth syndrome Reduced salivation human_phenotype HP:0000217 Xerostomia HP:0000217 Dryness of the mouth due to salivary gland dysfunction. https://orcid.org/0000-0002-0736-9199 Decreased salivary flow https://orcid.org/0000-0001-5889-4463 Dry mouth Dry mouth syndrome Reduced salivation Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). HP:0000156 HP:0009080 HP:0009082 HP:0009097 SNOMEDCT_US:27272007 UMLS:C0240635 Elevated palate High arched palate High palate High, arched palate High-arched palate Increased palatal height Palate high-arched Palate, high-arched human_phenotype Ogival palate HP:0000218 The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately. High palate HP:0000218 Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). PMID:19125428 Elevated palate https://orcid.org/0000-0001-5889-4463 High palate Increased palatal height https://orcid.org/0000-0001-5889-4463 Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). HP:0200062 HP:0200086 UMLS:C1865017 Decreased height of upper lip vermilion Decreased volume of upper lip Decreased volume of upper lip vermilion Thin upper lip Thin vermilion border of upper lip Thin red part of the upper lip human_phenotype Thin upper lips HP:0000219 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. Thin upper lip vermilion HP:0000219 Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). PMID:19125428 Decreased height of upper lip vermilion https://orcid.org/0000-0001-5889-4463 Decreased volume of upper lip https://orcid.org/0000-0001-5889-4463 Decreased volume of upper lip vermilion https://orcid.org/0000-0001-5889-4463 Thin upper lip https://orcid.org/0000-0002-5316-1399 Thin red part of the upper lip https://orcid.org/0000-0001-5889-4463 Thin upper lips https://orcid.org/0000-0002-5316-1399 Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Velopharyngeal dysfunction SNOMEDCT_US:229727006 SNOMEDCT_US:232416001 SNOMEDCT_US:278714002 UMLS:C0042454 UMLS:C4280669 Velopharyngeal incompetence human_phenotype HP:0000220 Velopharyngeal insufficiency HP:0000220 Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. HPO_CONTRIBUTOR:DDD_jhurst Velopharyngeal dysfunction https://orcid.org/0000-0001-5889-4463 Velopharyngeal incompetence Accentuation of the grooves on the dorsal surface of the tongue. SNOMEDCT_US:52368004 UMLS:C0040412 Fissured tongue Grooved tongue Lingua plicata Lingual furrow Plicated tongue Prominent tongue grooves Scrotal tongue human_phenotype HP:0000221 Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. Furrowed tongue HP:0000221 Accentuation of the grooves on the dorsal surface of the tongue. PMID:19125428 Fissured tongue https://orcid.org/0000-0002-5316-1399 Grooved tongue https://orcid.org/0000-0001-5889-4463 Lingua plicata https://orcid.org/0000-0002-5316-1399 Lingual furrow https://orcid.org/0000-0001-5889-4463 Plicated tongue https://orcid.org/0000-0002-5316-1399 Hyperkeratosis of the gingiva. HP:0007539 UMLS:C1857013 Hyperkeratosis, gingival human_phenotype HP:0000222 The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing esthetic and functional problems. Gingival hyperkeratosis HP:0000222 Hyperkeratosis of the gingiva. https://orcid.org/0000-0002-9338-3017 UMLS:C4025879 Abnormality of taste sensation human_phenotype HP:0000223 Abnormality of taste sensation HP:0000223 Abnormality of taste sensation A decreased ability to perceive flavor. SNOMEDCT_US:697990000 UMLS:C0151934 Decreased taste Decreased taste sensation human_phenotype HP:0000224 Hypogeusia HP:0000224 Decreased taste Decreased taste sensation Hemorrhage affecting the gingiva. HP:0000167 SNOMEDCT_US:86276007 UMLS:C0017565 Bleeding gums Gingival haemorrhage Gingival hemorrhage Gingivorrhagia human_phenotype HP:0000225 Gingival bleeding HP:0000225 Hemorrhage affecting the gingiva. https://orcid.org/0000-0002-9338-3017 Bleeding gums https://orcid.org/0000-0001-5889-4463 Gingival haemorrhage Gingival hemorrhage https://orcid.org/0000-0001-5889-4463 true HP:0000226 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. UMLS:C4025878 UMLS:C4280668 Lingual telangiectasia human_phenotype Angioectasias of the tongue Lingual angioectasias Spider veins of the tongue HP:0000227 Tongue telangiectasia HP:0000227 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. https://orcid.org/0000-0002-0736-9199 Lingual telangiectasia https://orcid.org/0000-0001-5889-4463 Angioectasias of the tongue https://orcid.org/0000-0001-5889-4463 Lingual angioectasias https://orcid.org/0000-0001-5889-4463 Spider veins of the tongue https://orcid.org/0000-0001-5889-4463 Presence of telangiectases in the oral cavity. UMLS:C4025877 UMLS:C4280667 Oral cavity teleangiectasia human_phenotype Angioectasias of the mouth Angioectasias of the oral cavity Spider veins of the mouth Spider veins of the oral cavity HP:0000228 Oral cavity telangiectasia HP:0000228 Presence of telangiectases in the oral cavity. https://orcid.org/0000-0002-0736-9199 Angioectasias of the mouth https://orcid.org/0000-0001-5889-4463 Angioectasias of the oral cavity https://orcid.org/0000-0001-5889-4463 Spider veins of the mouth https://orcid.org/0000-0001-5889-4463 Spider veins of the oral cavity https://orcid.org/0000-0001-5889-4463 true HP:0000229 Inflammation of the gingiva SNOMEDCT_US:66383009 UMLS:C0017574 Gingival inflammation Gingivitis Inflamed gums Red and swollen gums human_phenotype HP:0000230 Gingivitis HP:0000230 Inflammation of the gingiva PMID:39274292 PMID:39412215 Gingival inflammation https://orcid.org/0000-0001-5889-4463 Inflamed gums https://orcid.org/0000-0001-5889-4463 Red and swollen gums https://orcid.org/0000-0001-5889-4463 true HP:0000231 An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. HP:0000184 HP:0002264 HP:0002712 HP:0004665 HP:0009086 HP:0009093 UMLS:C1853246 UMLS:C1866234 Drooping lower lip Eclabium of lower lip Everted lower lip Everted prominent lower lip Outward turned lower lip human_phenotype Protruding lower lip HP:0000232 In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. Everted lower lip vermilion HP:0000232 An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. PMID:19125428 Drooping lower lip Eclabium of lower lip https://orcid.org/0000-0001-5889-4463 Outward turned lower lip https://orcid.org/0000-0001-5889-4463 Protruding lower lip Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). HP:0000213 SNOMEDCT_US:301348000 UMLS:C0578038 Decreased volume of lip Decreased volume of lip vermillion Thin lips Thin vermillion human_phenotype Thin vermilion borders HP:0000233 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. Thin vermilion border HP:0000233 Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). PMID:19125428 https://orcid.org/0000-0002-0736-9199 Decreased volume of lip https://orcid.org/0000-0001-5889-4463 Decreased volume of lip vermillion https://orcid.org/0000-0001-5889-4463 Thin lips Thin vermilion borders https://orcid.org/0000-0002-5316-1399 An abnormality of the head. UMLS:C4021812 Abnormal head Abnormality of the head Head abnormality human_phenotype HP:0000234 Abnormality of the head HP:0000234 An abnormality of the head. https://orcid.org/0000-0002-0736-9199 Abnormal head https://orcid.org/0000-0002-5316-1399 Abnormality of the head Head abnormality Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). UMLS:C4025876 Abnormality of the fontanelles or cranial sutures human_phenotype HP:0000235 Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. Abnormal cranial suture/fontanelle morphology HP:0000235 Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). PMID:12825844 PMID:31194354 https://orcid.org/0000-0002-0736-9199 An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. UMLS:C4025875 Abnormality of the anterior fontanelle Abnormality of the forehead soft spot human_phenotype HP:0000236 Abnormal anterior fontanelle morphology HP:0000236 An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures. https://orcid.org/0000-0002-0736-9199 Abnormality of the forehead soft spot https://orcid.org/0000-0001-5889-4463 Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. UMLS:C1859455 Small anterior fontanel Small forehead fontanel human_phenotype HP:0000237 Small anterior fontanelle HP:0000237 Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small forehead fontanel https://orcid.org/0000-0001-5889-4463 Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. HP:0007189 HP:0008503 SNOMEDCT_US:230745008 UMLS:C0020255 Hydrocephaly Nonsyndromal hydrocephalus Too much cerebrospinal fluid in the brain human_phenotype HP:0000238 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. Hydrocephalus HP:0000238 Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. PMID:18211712 PMID:19410151 https://orcid.org/0000-0002-0736-9199 Too much cerebrospinal fluid in the brain https://orcid.org/0000-0002-6548-5200 In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. HP:0004473 SNOMEDCT_US:276709006 UMLS:C0456132 UMLS:C4072820 UMLS:C4072821 UMLS:C4072822 Enlarged fontanelles Large fontanel Large fontanelle Large fontanels Persistent wide fontanel Wide fontanelles Large bregma sutures Large, late-closing fontanelle Wide bregma sutures human_phenotype HP:0000239 There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). Large fontanelles HP:0000239 In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. https://orcid.org/0000-0002-0736-9199 Wide fontanelles https://orcid.org/0000-0001-5889-4463 Large bregma sutures https://orcid.org/0000-0001-5889-4463 Large, late-closing fontanelle https://orcid.org/0000-0001-5889-4463 Wide bregma sutures https://orcid.org/0000-0001-5889-4463 Any abnormality of the size of the skull. Abnormality of head size UMLS:C4025874 Abnormality of cranium size Abnormality of skull size human_phenotype HP:0000240 Abnormality of skull size HP:0000240 Any abnormality of the size of the skull. https://orcid.org/0000-0002-0736-9199 Abnormality of head size https://orcid.org/0000-0001-5889-4463 Abnormality of cranium size https://orcid.org/0000-0001-5889-4463 Abnormality of skull size true HP:0000241 Parietal bossing is a marked prominence in the parietal region. HP:0004641 UMLS:C1857126 Biparietal bossing Bossing of parietal bone human_phenotype HP:0000242 Parietal bossing HP:0000242 Parietal bossing is a marked prominence in the parietal region. https://orcid.org/0000-0002-0736-9199 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. Triangular head shape Wedge shaped head SNOMEDCT_US:28740008 UMLS:C0265535 UMLS:C4280665 UMLS:C4280666 Triangular cranium shape Triangular skull shape Wedge shaped cranium Wedge shaped skull human_phenotype HP:0000243 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. Trigonocephaly HP:0000243 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. PMID:19125436 Triangular head shape https://orcid.org/0000-0001-5889-4463 Wedge shaped head https://orcid.org/0000-0001-5889-4463 Triangular cranium shape https://orcid.org/0000-0001-5889-4463 Triangular skull shape https://orcid.org/0000-0001-5889-4463 Wedge shaped cranium https://orcid.org/0000-0001-5889-4463 Wedge shaped skull https://orcid.org/0000-0001-5889-4463 Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. UMLS:C1857484 Brachy-turricephaly High, prominent forehead Turribrachycephaly human_phenotype HP:0000244 Brachyturricephaly HP:0000244 Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. PMID:8460563 Brachy-turricephaly PMID:8460563 High, prominent forehead https://orcid.org/0000-0002-9353-5498 Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. Abnormality of the sinuses UMLS:C4025873 Abnormality of the sinuses of the head human_phenotype Abnormality of the paranasal sinuses HP:0000245 Abnormal paranasal sinus morphology HP:0000245 Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses. https://orcid.org/0000-0002-0736-9199 Abnormality of the sinuses Abnormality of the sinuses of the head https://orcid.org/0000-0001-5889-4463 Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Sinus infection SNOMEDCT_US:36971009 SNOMEDCT_US:7393007 UMLS:C0030469 UMLS:C0037199 Sinus inflammation human_phenotype Sinus disease HP:0000246 Sinusitis HP:0000246 Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. https://orcid.org/0000-0002-0736-9199 Sinus infection Sinus inflammation https://orcid.org/0000-0001-5889-4463 Sinus disease https://orcid.org/0000-0001-5889-4463 true HP:0000247 An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. HP:0002258 HP:0004479 HP:0008512 Broad cranium shape Broad head shape Broad skull shape Wide cranium shape Wide head shape Wide skull shape SNOMEDCT_US:13649004 UMLS:C0221356 UMLS:C4072823 UMLS:C4072824 Short and broad skull human_phenotype HP:0000248 Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. Brachycephaly HP:0000248 An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Broad cranium shape https://orcid.org/0000-0001-5889-4463 Broad head shape https://orcid.org/0000-0001-5889-4463 Broad skull shape https://orcid.org/0000-0001-5889-4463 Wide cranium shape https://orcid.org/0000-0001-5889-4463 Wide head shape https://orcid.org/0000-0001-5889-4463 Wide skull shape https://orcid.org/0000-0001-5889-4463 Short and broad skull https://orcid.org/0000-0002-6548-5200 true HP:0000249 An abnormal increase of density of the bones making up the calvaria. UMLS:C1854834 Dense skull cap human_phenotype HP:0000250 Dense calvaria HP:0000250 An abnormal increase of density of the bones making up the calvaria. https://orcid.org/0000-0002-0736-9199 Dense skull cap https://orcid.org/0000-0001-5889-4463 true HP:0000251 Head circumference below 2 standard deviations below the mean for age and gender. HP:0001366 HP:0005485 HP:0005489 HP:0005497 Abnormally small head Decreased size of head Small head Small skull Fyler:4310 SNOMEDCT_US:271611007 UMLS:C4551563 Abnormally small cranium Abnormally small skull Decreased circumference of cranium Decreased size of cranium Decreased size of skull Reduced head circumference Small head circumference small cranium small calvarium human_phenotype HP:0000252 Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition Microcephaly HP:0000252 Head circumference below 2 standard deviations below the mean for age and gender. PMID:15806441 PMID:19125436 PMID:25465325 PMID:9683597 Abnormally small head https://orcid.org/0000-0001-5889-4463 Decreased size of head https://orcid.org/0000-0001-5889-4463 Small head https://orcid.org/0000-0001-5889-4463 Small skull https://orcid.org/0000-0001-5889-4463 Abnormally small cranium https://orcid.org/0000-0001-5889-4463 Abnormally small skull https://orcid.org/0000-0001-5889-4463 Decreased circumference of cranium https://orcid.org/0000-0001-5889-4463 Decreased size of cranium https://orcid.org/0000-0001-5889-4463 Decreased size of skull https://orcid.org/0000-0001-5889-4463 Reduced head circumference Small head circumference small cranium https://orcid.org/0000-0001-5889-4463 small calvarium https://orcid.org/0000-0001-5889-4463 Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. UMLS:C1850456 Microcephaly, postnatal, progressive Microcephaly, progressive Progressively abnormally small cranium Progressively abnormally small skull human_phenotype HP:0000253 Progressive microcephaly HP:0000253 Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. https://orcid.org/0000-0002-0736-9199 Microcephaly, progressive https://orcid.org/0000-0002-5316-1399 Progressively abnormally small cranium https://orcid.org/0000-0001-5889-4463 Progressively abnormally small skull https://orcid.org/0000-0001-5889-4463 true HP:0000254 An acute form of sinusitis. SNOMEDCT_US:15805002 UMLS:C0149512 human_phenotype HP:0000255 Acute sinusitis HP:0000255 An acute form of sinusitis. https://orcid.org/0000-0002-0736-9199 Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. HP:0005491 HP:0005496 HP:0200135 Big calvaria Big cranium Big head Big skull Increased size of head Large calvaria Large cranium Large skull Fyler:4335 UMLS:C4083076 UMLS:C4255213 UMLS:C4280663 UMLS:C4280664 Increased size of cranium Increased size of skull Large head Large head circumference Macrocephalus Macrocrania Megacephaly human_phenotype HP:0000256 Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. Macrocephaly HP:0000256 Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. PMID:19125436 Big calvaria https://orcid.org/0000-0001-5889-4463 Big cranium https://orcid.org/0000-0001-5889-4463 Big head https://orcid.org/0000-0001-5889-4463 Big skull https://orcid.org/0000-0001-5889-4463 Increased size of head https://orcid.org/0000-0001-5889-4463 Large calvaria https://orcid.org/0000-0001-5889-4463 Large cranium https://orcid.org/0000-0001-5889-4463 Large skull https://orcid.org/0000-0001-5889-4463 Increased size of cranium https://orcid.org/0000-0001-5889-4463 Increased size of skull https://orcid.org/0000-0001-5889-4463 Large head Large head circumference Megacephaly https://orcid.org/0000-0001-5208-3432 true HP:0000257 true HP:0000258 true HP:0000259 Enlargement of the anterior fontanelle with respect to age-dependent norms. UMLS:C1866134 Large anterior fontanel Large anterior fontanelle Large open anterior fontanel Large open anterior fontanelle Wide anterior fontanelle Wide open anterior fontanelle Wider-than-typical soft spot of skull human_phenotype Large anterior fontanels HP:0000260 Wide anterior fontanel HP:0000260 Enlargement of the anterior fontanelle with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Wider-than-typical soft spot of skull https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Large anterior fontanels https://orcid.org/0000-0002-5316-1399 true HP:0000261 Tall head relative to width and length. HP:0001356 Tall shaped head SNOMEDCT_US:48069004 UMLS:C0030044 Tall shaped cranium Tall shaped skull Tower cranium shape Tower skull shape Turricephalus human_phenotype HP:0000262 Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. Turricephaly HP:0000262 Tall head relative to width and length. PMID:19125436 Tall shaped head https://orcid.org/0000-0001-5889-4463 Tall shaped cranium https://orcid.org/0000-0001-5889-4463 Tall shaped skull https://orcid.org/0000-0001-5889-4463 Tower cranium shape https://orcid.org/0000-0001-5889-4463 Tower skull shape https://orcid.org/0000-0001-5889-4463 Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. human_phenotype Acrocephaly HP:0000263 Oxycephaly HP:0000263 Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. https://orcid.org/0000-0002-0736-9199 An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. UMLS:C4025872 Abnormality of mastoid process of temporal bone Abnormality of the mastoid human_phenotype HP:0000264 Abnormal mastoid morphology HP:0000264 An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. https://orcid.org/0000-0002-0736-9199 Infection of the mastoid air cells, arising as a complication of otitis media or occurring in the context of unusual susceptibility to infection. human_phenotype HP:0000265 Mastoiditis HP:0000265 true HP:0000266 Asymmetry of the bones of the skull. Asymmetry of head Uneven head shape UMLS:C1860245 UMLS:C4280258 UMLS:C4280657 UMLS:C4280658 UMLS:C4280659 UMLS:C4280660 UMLS:C4280661 UMLS:C4280662 Asymmetry of cranium Cranial vault asymmetry human_phenotype Abnormality of cranial vault shape Abnormality of cranium shape Abnormality of head shape Malformation of cranial vault shape Malformation of cranium shape Malformation of head shape HP:0000267 Cranial asymmetry HP:0000267 Asymmetry of the bones of the skull. https://orcid.org/0000-0002-0736-9199 Asymmetry of head https://orcid.org/0000-0001-5889-4463 Uneven head shape https://orcid.org/0000-0001-5889-4463 Asymmetry of cranium https://orcid.org/0000-0001-5889-4463 Cranial vault asymmetry https://orcid.org/0000-0001-5889-4463 Abnormality of cranial vault shape https://orcid.org/0000-0001-5889-4463 Abnormality of cranium shape https://orcid.org/0000-0001-5889-4463 Abnormality of head shape https://orcid.org/0000-0001-5889-4463 Malformation of cranial vault shape https://orcid.org/0000-0001-5889-4463 Malformation of cranium shape https://orcid.org/0000-0001-5889-4463 Malformation of head shape https://orcid.org/0000-0001-5889-4463 An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. HP:0000258 HP:0005440 Narrow cranium shape Narrow head shape Narrow skull shape Turridolichocephaly SNOMEDCT_US:72239002 UMLS:C0221358 UMLS:C4280653 UMLS:C4280654 UMLS:C4280655 UMLS:C4280656 Long, narrow head Tall and narrow skull Large dolichocephalic skull human_phenotype HP:0000268 Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Dolichocephaly HP:0000268 An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Narrow cranium shape https://orcid.org/0000-0001-5889-4463 Narrow head shape https://orcid.org/0000-0001-5889-4463 Narrow skull shape https://orcid.org/0000-0001-5889-4463 Long, narrow head https://orcid.org/0000-0002-6548-5200 Tall and narrow skull https://orcid.org/0000-0002-6548-5200 Increased convexity of the occiput (posterior part of the skull). HP:0004489 Prominent back of the head Prominent posterior head Protruding back of the head UMLS:C1853737 UMLS:C4280652 Prominent back of the skull Prominent posterior cranium Prominent posterior skull Protruding occiput human_phenotype HP:0000269 Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. Prominent occiput HP:0000269 Increased convexity of the occiput (posterior part of the skull). PMID:19125436 Prominent back of the head https://orcid.org/0000-0001-5889-4463 Prominent posterior head https://orcid.org/0000-0001-5889-4463 Protruding back of the head https://orcid.org/0000-0001-5889-4463 Prominent back of the skull https://orcid.org/0000-0001-5889-4463 Prominent posterior cranium https://orcid.org/0000-0001-5889-4463 Prominent posterior skull https://orcid.org/0000-0001-5889-4463 Protruding occiput https://orcid.org/0000-0001-5889-4463 Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. HP:0002704 HP:0003794 SNOMEDCT_US:82779003 UMLS:C0277828 Broad late closing cranial sutures Delayed closure of fontanel Delayed closure of fontanelles Delayed closure of fontanels Delayed closure of the fontanelles Delayed cranial suture closure Delayed fontanel closure Delayed fontanelle closure Late closing fontanelles Late closure of fontanelle Late-closing fontanelle Open sutures human_phenotype HP:0000270 Delayed cranial suture closure HP:0000270 Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. https://orcid.org/0000-0002-0736-9199 Delayed closure of fontanels https://orcid.org/0000-0002-5316-1399 Delayed cranial suture closure An abnormality of the face. Abnormality of the countenance Abnormality of the physiognomy Abnormality of the visage SNOMEDCT_US:118930001 SNOMEDCT_US:32003007 SNOMEDCT_US:398206004 SNOMEDCT_US:398302004 UMLS:C0266617 UMLS:C1290857 UMLS:C4025871 Abnormal face Abnormality of the face Facial abnormality human_phenotype Anomaly of face Anomaly of the face Disorder of face Disorder of the face Facial anomaly HP:0000271 Abnormality of the face HP:0000271 An abnormality of the face. https://orcid.org/0000-0002-0736-9199 Abnormality of the countenance https://orcid.org/0000-0001-5889-4463 Abnormality of the physiognomy https://orcid.org/0000-0001-5889-4463 Abnormality of the visage https://orcid.org/0000-0001-5889-4463 Abnormal face https://orcid.org/0000-0002-5316-1399 Abnormality of the face Facial abnormality https://orcid.org/0000-0001-5889-4463 Anomaly of face https://orcid.org/0000-0001-5889-4463 Anomaly of the face https://orcid.org/0000-0001-5889-4463 Disorder of face https://orcid.org/0000-0001-5889-4463 Disorder of the face https://orcid.org/0000-0001-5889-4463 Facial anomaly https://orcid.org/0000-0001-5889-4463 Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. HP:0000312 HP:0000332 HP:0004642 HP:0004658 HP:0004671 HP:0005319 HP:0005443 HP:0005455 HP:0100846 UMLS:C1858085 UMLS:C4280651 Decreased size of malar bone Depressed malar region Flat cheekbone Malar hypoplasia Underdevelopment of malar bone Zygomatic flattening human_phenotype Hypotrophic malar bone HP:0000272 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. Malar flattening HP:0000272 Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. PMID:19125436 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0002-0736-9199 Decreased size of malar bone https://orcid.org/0000-0001-5889-4463 Flat cheekbone https://orcid.org/0000-0002-9353-5498 Underdevelopment of malar bone https://orcid.org/0000-0001-5889-4463 Zygomatic flattening https://orcid.org/0000-0001-5889-4463 Hypotrophic malar bone https://orcid.org/0000-0001-5889-4463 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. https://orcid.org/0000-0001-5889-4463 SNOMEDCT_US:37126005 UMLS:C0234853 Facial grimacing human_phenotype HP:0000273 Facial grimacing HP:0000273 Facial grimacing A face that is short and narrow. UMLS:C1855538 Facial hypoplasia Hypoplasia of face Microface Microfacies Short and narrow face Small face Small facies human_phenotype HP:0000274 This term represents a combination of two terms, short face and narrow face. Small face HP:0000274 A face that is short and narrow. https://orcid.org/0000-0002-0736-9199 Facial hypoplasia https://orcid.org/0000-0001-5889-4463 Hypoplasia of face https://orcid.org/0000-0001-5889-4463 Microface https://orcid.org/0000-0001-5889-4463 Microfacies https://orcid.org/0000-0001-5889-4463 Short and narrow face https://orcid.org/0000-0001-5889-4463 Small face Small facies https://orcid.org/0000-0001-5889-4463 Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). HP:0000318 UMLS:C1837463 UMLS:C1849121 Decreased breadth of face Decreased horizontal dimension of face Decreased transverse dimension of face Decreased width of face Horizontal deficiency of face Horizontal hypoplasia of face Horizontal insufficiency of face Narrow face Narrow facies Thin facies Transverse deficiency of face Transverse hypoplasia of face Transverse insufficiency of face human_phenotype Thin face HP:0000275 Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. Narrow face HP:0000275 Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). PMID:19125436 Decreased breadth of face https://orcid.org/0000-0001-5889-4463 Decreased horizontal dimension of face https://orcid.org/0000-0001-5889-4463 Decreased transverse dimension of face https://orcid.org/0000-0001-5889-4463 Decreased width of face https://orcid.org/0000-0001-5889-4463 Horizontal deficiency of face https://orcid.org/0000-0001-5889-4463 Horizontal hypoplasia of face https://orcid.org/0000-0001-5889-4463 Horizontal insufficiency of face https://orcid.org/0000-0001-5889-4463 Narrow face Thin facies https://orcid.org/0000-0001-5889-4463 Transverse deficiency of face https://orcid.org/0000-0001-5889-4463 Transverse hypoplasia of face https://orcid.org/0000-0001-5889-4463 Transverse insufficiency of face https://orcid.org/0000-0001-5889-4463 Thin face Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). HP:0000334 UMLS:C1836047 Elongation of face Increased height of face Increased length of face Increased vertical dimension of face Long face Long facies Vertical Facial Excess Vertical elongation of face Vertical enlargement of face Vertical excess of face Vertical hyperplasia of face Vertical overgrowth of face human_phenotype HP:0000276 Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. Long face HP:0000276 Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). PMID:19125436 Elongation of face https://orcid.org/0000-0001-5889-4463 Increased height of face https://orcid.org/0000-0001-5889-4463 Increased length of face https://orcid.org/0000-0001-5889-4463 Increased vertical dimension of face https://orcid.org/0000-0001-5889-4463 Long face Long facies https://orcid.org/0000-0001-5889-4463 Vertical Facial Excess https://orcid.org/0000-0001-5889-4463 Vertical elongation of face https://orcid.org/0000-0001-5889-4463 Vertical enlargement of face https://orcid.org/0000-0001-5889-4463 Vertical excess of face https://orcid.org/0000-0001-5889-4463 Vertical hyperplasia of face https://orcid.org/0000-0001-5889-4463 Vertical overgrowth of face https://orcid.org/0000-0001-5889-4463 Any abnormality of the mandible, the bone of the lower jaw. HP:0000209 UMLS:C4025870 Abnormality of the lower jaw bone Abnormality of the mandible Anomaly of the mandible Deformity of the lower jaw bone Deformity of the mandible Malformation of the lower jaw bone Malformation of the mandible human_phenotype HP:0000277 Abnormal mandible morphology HP:0000277 Any abnormality of the mandible, the bone of the lower jaw. https://orcid.org/0000-0002-0736-9199 Abnormality of the lower jaw bone https://orcid.org/0000-0001-5889-4463 Abnormality of the mandible Anomaly of the mandible https://orcid.org/0000-0001-5889-4463 Deformity of the lower jaw bone https://orcid.org/0000-0001-5889-4463 Deformity of the mandible https://orcid.org/0000-0001-5889-4463 Malformation of the lower jaw bone https://orcid.org/0000-0001-5889-4463 Malformation of the mandible https://orcid.org/0000-0001-5889-4463 An abnormality in which the mandible is mislocalised posteriorly. HP:0002053 HP:0002954 UMLS:C3494422 Lower jaw retrognathia Lower jaw retrusion Mandibular retrognathia Mandibular retrusion Receding chin Receding lower jaw Receding mandible Retrognathia of lower jaw Retrusion of lower jaw Weak chin Weak jaw Retrogenia human_phenotype HP:0000278 Retrognathia HP:0000278 An abnormality in which the mandible is mislocalised posteriorly. https://orcid.org/0000-0002-0736-9199 Receding chin Receding lower jaw https://orcid.org/0000-0001-5889-4463 Retrognathia of lower jaw https://orcid.org/0000-0001-5889-4463 Weak chin https://orcid.org/0000-0001-5889-4463 Weak jaw https://orcid.org/0000-0001-5889-4463 Retrogenia https://orcid.org/0000-0001-5889-4463 true HP:0000279 Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. HP:0000281 HP:0004640 UMLS:C1845847 UMLS:C4072825 Coarse face Coarse facial appearance Coarse facial features Coarse facies Rounded and heavy facial features Thickened facial skin with coarse facial features human_phenotype HP:0000280 Coarse facial features HP:0000280 Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. PMID:19125436 Coarse facial appearance https://orcid.org/0000-0001-5889-4463 Coarse facial features Rounded and heavy facial features https://orcid.org/0000-0001-5889-4463 Thickened facial skin with coarse facial features https://orcid.org/0000-0001-5889-4463 true HP:0000281 SNOMEDCT_US:445088006 UMLS:C0542571 Facial oedema Facial puffiness Facial swelling Swelling of the face human_phenotype HP:0000282 Facial edema HP:0000282 Facial oedema Facial puffiness https://orcid.org/0000-0001-5889-4463 Facial swelling https://orcid.org/0000-0001-5889-4463 Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). UMLS:C1859680 Broad face Broad facies Horizontal excess of face Horizontal hyperplasia of face Increased breadth of face Increased horizontal dimension of face Increased transverse dimension of face Increased width of face Transverse excess of face Transverse hyperplasia of face Wide face Wide facies human_phenotype HP:0000283 Note that broad face is distinct from round face. Broad face HP:0000283 Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). PMID:19125436 Broad face Broad facies https://orcid.org/0000-0001-5889-4463 Horizontal excess of face https://orcid.org/0000-0001-5889-4463 Horizontal hyperplasia of face https://orcid.org/0000-0001-5889-4463 Increased breadth of face https://orcid.org/0000-0001-5889-4463 Increased horizontal dimension of face https://orcid.org/0000-0001-5889-4463 Increased transverse dimension of face https://orcid.org/0000-0001-5889-4463 Increased width of face https://orcid.org/0000-0001-5889-4463 Transverse excess of face https://orcid.org/0000-0001-5889-4463 Transverse hyperplasia of face https://orcid.org/0000-0001-5889-4463 Wide face https://orcid.org/0000-0001-5889-4463 Wide facies https://orcid.org/0000-0001-5889-4463 HP:0000315 human_phenotype HP:0000284 obsolete Abnormality of the ocular region true HP:0000284 true HP:0000285 A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. HP:0000624 HP:0007930 UMLS:C0678230 Epicanthal fold Epicanthal folds Epicanthic folds Eye folds Palpebronasal fold Plica palpebronasalis Prominent eye folds human_phenotype HP:0000286 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. Epicanthus HP:0000286 A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. https://orcid.org/0000-0002-0736-9199 Eye folds https://orcid.org/0000-0001-5889-4463 Palpebronasal fold https://orcid.org/0000-0001-5889-4463 Plica palpebronasalis https://orcid.org/0000-0001-5889-4463 Prominent eye folds https://orcid.org/0000-0001-5889-4463 An increased amount of subcutaneous fat tissue in the face. UMLS:C4025868 UMLS:C4280649 UMLS:C4280650 Increased amount of facial adipose tissue Increased amount of facial fat Increased volume of facial adipose tissue Facial fat hyperplasia Facial fat hypertrophy Hyperplasia of facial adipose tissue Hypertrophy of facial adipose tissue human_phenotype HP:0000287 Increased facial adipose tissue HP:0000287 An increased amount of subcutaneous fat tissue in the face. https://orcid.org/0000-0002-0736-9199 Increased amount of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Increased amount of facial fat https://orcid.org/0000-0001-5889-4463 Increased volume of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Facial fat hyperplasia https://orcid.org/0000-0001-5889-4463 Facial fat hypertrophy https://orcid.org/0000-0001-5889-4463 Hyperplasia of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Hypertrophy of facial adipose tissue https://orcid.org/0000-0001-5889-4463 An abnormality of the philtrum. HP:0011216 UMLS:C1857045 Abnormal philtrum Abnormality of the infranasal depression Abnormality of the paralabial region human_phenotype HP:0000288 The paralabial region is the region surrounding the lips and includes the philtrum. Abnormality of the philtrum HP:0000288 An abnormality of the philtrum. https://orcid.org/0000-0002-0736-9199 Abnormality of the infranasal depression https://orcid.org/0000-0001-5889-4463 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. UMLS:C1854111 Increased breadth of philtrum Increased horizontal dimension of philtrum Increased transverse dimension of philtrum Increased width of philtrum Wide philtrum human_phenotype HP:0000289 The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. Broad philtrum HP:0000289 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. PMID:19152422 Increased breadth of philtrum https://orcid.org/0000-0001-5889-4463 Increased horizontal dimension of philtrum https://orcid.org/0000-0001-5889-4463 Increased transverse dimension of philtrum https://orcid.org/0000-0001-5889-4463 Increased width of philtrum https://orcid.org/0000-0001-5889-4463 An anomaly of the forehead. UMLS:C4025867 Abnormality of the forehead Abnormality of the frontal region of the face Anomaly of the forehead Deformity of the forehead Malformation of the forehead human_phenotype HP:0000290 Abnormal forehead morphology HP:0000290 An anomaly of the forehead. https://orcid.org/0000-0002-0736-9199 Abnormality of the forehead Abnormality of the frontal region of the face https://orcid.org/0000-0001-5889-4463 Anomaly of the forehead https://orcid.org/0000-0001-5889-4463 Deformity of the forehead https://orcid.org/0000-0001-5889-4463 Malformation of the forehead https://orcid.org/0000-0001-5889-4463 UMLS:C4025866 Abnormality of facial fat Deformity of facial adipose tissue Malformation of facial adipose tissue human_phenotype HP:0000291 Abnormality of facial adipose tissue HP:0000291 Abnormality of facial fat Deformity of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Malformation of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Loss of normal subcutaneous fat tissue in the face. UMLS:C1837767 Decreased amount of facial adipose tissue Decreased amount of facial fat Decreased volume of facial adipose tissue Loss of facial fat Loss of facial subcutaneous adipose tissue Loss of subcutaneous adipose tissue from face human_phenotype HP:0000292 Loss of facial adipose tissue HP:0000292 Loss of normal subcutaneous fat tissue in the face. https://orcid.org/0000-0002-0736-9199 Decreased amount of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Decreased amount of facial fat https://orcid.org/0000-0001-5889-4463 Decreased volume of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Loss of facial fat https://orcid.org/0000-0001-5889-4463 Increased prominence or roundness of soft tissues between zygomata and mandible. HP:0002262 HP:0004427 UMLS:C1866231 UMLS:C2748653 UMLS:C3806443 UMLS:C4280647 UMLS:C4280648 Apple cheeks Big cheeks Full cheeks Increased size of cheeks Large cheeks human_phenotype Chubby cheeks Hyperplasia of cheeks Hypertrophy of cheeks Puffy cheeks HP:0000293 Full cheeks HP:0000293 Increased prominence or roundness of soft tissues between zygomata and mandible. https://orcid.org/0000-0002-2972-5481 Apple cheeks Big cheeks Full cheeks Increased size of cheeks https://orcid.org/0000-0001-5889-4463 Large cheeks Chubby cheeks https://orcid.org/0000-0001-5889-4463 Hyperplasia of cheeks https://orcid.org/0000-0001-5889-4463 Hypertrophy of cheeks https://orcid.org/0000-0001-5889-4463 Puffy cheeks https://orcid.org/0000-0001-5889-4463 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. UMLS:C1842366 Low frontal hairline Low-set frontal hairline human_phenotype HP:0000294 This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. Low anterior hairline HP:0000294 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. PMID:19125436 Low frontal hairline Low-set frontal hairline A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. UMLS:C1856361 Doll-like facial appearance human_phenotype HP:0000295 This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. Doll-like facies HP:0000295 A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. https://orcid.org/0000-0002-0736-9199 Doll-like facial appearance https://orcid.org/0000-0001-5889-4463 true HP:0000296 Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). UMLS:C1845251 UMLS:C4280646 Decreased facial muscle tone Hypotonic facies Low facial muscle tone Reduced facial muscle tone Atony of facial musculature human_phenotype HP:0000297 Facial hypotonia HP:0000297 Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Decreased facial muscle tone https://orcid.org/0000-0001-5889-4463 Low facial muscle tone https://orcid.org/0000-0001-5889-4463 Reduced facial muscle tone https://orcid.org/0000-0001-5889-4463 Atony of facial musculature https://orcid.org/0000-0001-5889-4463 A lack of facial expression often with staring eyes and a slightly open mouth. SNOMEDCT_US:103606006 UMLS:C0424448 Amimia Expressionless face Lack of facial expression Mask-like facial appearance Masklike facies human_phenotype HP:0000298 Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. Mask-like facies HP:0000298 A lack of facial expression often with staring eyes and a slightly open mouth. https://orcid.org/0000-0002-0736-9199 Expressionless face Lack of facial expression https://orcid.org/0000-0001-5889-4463 Mask-like facial appearance https://orcid.org/0000-0001-5889-4463 true HP:0000299 A face with a rounded and slightly elongated outline. UMLS:C1849025 Oval face Oval facial shape Oval facies human_phenotype HP:0000300 Oval face HP:0000300 A face with a rounded and slightly elongated outline. https://orcid.org/0000-0002-0736-9199 Oval face Oval facial shape https://orcid.org/0000-0001-5889-4463 Oval facies https://orcid.org/0000-0001-5889-4463 An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). UMLS:C4025865 Abnormality of facial muscles Facial muscle issue human_phenotype HP:0000301 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. Abnormality of facial musculature HP:0000301 An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Abnormality of facial muscles https://orcid.org/0000-0001-5889-4463 Facial muscle issue true HP:0000302 Abnormal prominence of the chin related to increased length of the mandible. HP:0000251 HP:0000279 HP:0000328 HP:0002051 HP:0004648 HP:0004656 HP:0008514 Hypertrophy of lower jaw Hypertrophy of mandible SNOMEDCT_US:109504005 SNOMEDCT_US:22810007 UMLS:C0302501 UMLS:C0399526 UMLS:C2227134 UMLS:C4280644 UMLS:C4280645 Big lower jaw Big mandible Enlarged mandible Enlargement of mandible Hyperplasia of lower jaw Increased projection of lower jaw Increased projection of mandible Increased size of lower jaw Large lower jaw Large mandible Lower jaw excess Lower jaw hyperplasia Macromandible Mandible prognathism Mandibular excess Mandibular hyperplasia Mandibular macrognathia Mandibular prognathism Prognathia Prognathism Prominent chin Prominent jaw Prominent lower jaw Prominent mandible Relative mandibular prognathism human_phenotype Increased size of mandible HP:0000303 Mandibular prognathia HP:0000303 Abnormal prominence of the chin related to increased length of the mandible. https://orcid.org/0000-0002-0736-9199 Hypertrophy of lower jaw https://orcid.org/0000-0001-5889-4463 Hypertrophy of mandible https://orcid.org/0000-0001-5889-4463 Big lower jaw Increased projection of lower jaw https://orcid.org/0000-0001-5889-4463 Increased projection of mandible https://orcid.org/0000-0001-5889-4463 Increased size of lower jaw https://orcid.org/0000-0001-5889-4463 Large lower jaw Prominent chin Prominent lower jaw https://orcid.org/0000-0001-5889-4463 Prominent mandible https://orcid.org/0000-0001-5889-4463 Increased size of mandible https://orcid.org/0000-0001-5889-4463 true HP:0000304 true HP:0000305 An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. UMLS:C4025864 Abnormality of the chin Abnormality of the menton Anomaly of the chin Deformity of the chin Malformation of the chin human_phenotype HP:0000306 Abnormality of the chin HP:0000306 An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Abnormality of the chin Abnormality of the menton https://orcid.org/0000-0001-5889-4463 Anomaly of the chin Deformity of the chin https://orcid.org/0000-0001-5889-4463 Malformation of the chin https://orcid.org/0000-0001-5889-4463 A marked tapering of the lower face to the chin. HP:0005330 UMLS:C1844505 Pointed chin Pointed mention region Pointy chin Small pointed chin Witch's chin human_phenotype HP:0000307 The two rami of the mandible meet at an acute angle. Pointed chin HP:0000307 A marked tapering of the lower face to the chin. PMID:19125436 Pointed chin Pointed mention region https://orcid.org/0000-0001-5889-4463 Pointy chin Small pointed chin Witch's chin A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. UMLS:C1839546 Retromicrognathia Small retruded chin human_phenotype HP:0000308 Microretrognathia HP:0000308 A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. https://orcid.org/0000-0002-0736-9199 Small retruded chin https://orcid.org/0000-0002-6548-5200 An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. HP:0430026 UMLS:C4021811 Abnormal morphology of the midface Abnormality of the midface Anomaly of the midface Deformity of the midface Malformation of the midface human_phenotype HP:0000309 Abnormal midface morphology HP:0000309 An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Abnormality of the midface Deformity of the midface https://orcid.org/0000-0001-5889-4463 Malformation of the midface https://orcid.org/0000-0001-5889-4463 true HP:0000310 The facial appearance is more circular than usual as viewed from the front. HP:0000304 HP:0004653 Round, full face UMLS:C0239479 UMLS:C1856468 Circular face Round face Round facial appearance Round facial shape Round facies human_phenotype HP:0000311 Round face HP:0000311 The facial appearance is more circular than usual as viewed from the front. PMID:19125436 Circular face https://orcid.org/0000-0001-5889-4463 Round face Round facial appearance Round facial shape https://orcid.org/0000-0001-5889-4463 true HP:0000312 true HP:0000313 true HP:0000314 HP:0000284 UMLS:C4025863 Abnormality of the eye region Anomaly of the orbital region of the face Deformity of the orbital region of the face Malformation of the orbital region of the face human_phenotype HP:0000315 Abnormality of the orbital region HP:0000315 Abnormality of the eye region https://orcid.org/0000-0001-5889-4463 Anomaly of the orbital region of the face https://orcid.org/0000-0001-5889-4463 Deformity of the orbital region of the face https://orcid.org/0000-0001-5889-4463 Malformation of the orbital region of the face https://orcid.org/0000-0001-5889-4463 Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). HP:0000578 HP:0002001 HP:0004657 HP:0007871 SNOMEDCT_US:194021007 SNOMEDCT_US:22006008 UMLS:C0020534 Excessive orbital separation Increased distance between eye sockets Increased distance between eyes Increased interpupillary distance Ocular hypertelorism Wide-set eyes Widely spaced eyes Widened interpupillary distance human_phenotype HP:0000316 Hypertelorism HP:0000316 Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). PMID:19125427 Excessive orbital separation https://orcid.org/0000-0001-5889-4463 Increased distance between eye sockets https://orcid.org/0000-0001-5889-4463 Increased distance between eyes https://orcid.org/0000-0001-5889-4463 Wide-set eyes Widely spaced eyes Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HP:0004651 SNOMEDCT_US:1070000 UMLS:C0270871 Involuntary facial contraction Involuntary facial quivering human_phenotype HP:0000317 Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. Facial myokymia HP:0000317 Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Involuntary facial quivering true HP:0000318 Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. HP:0000299 HP:0000323 HP:0004663 UMLS:C1142533 Decreased depth of philtrum Flat philtrum Indistinct philtrum Philtrum, smooth Shallow philtrum Simple philtrum human_phenotype HP:0000319 There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. Smooth philtrum HP:0000319 Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. PMID:19152422 Decreased depth of philtrum https://orcid.org/0000-0001-5889-4463 Shallow philtrum https://orcid.org/0000-0001-5889-4463 UMLS:C1837758 Bird-like facial appearance human_phenotype HP:0000320 Bird-like facies HP:0000320 Bird-like facial appearance https://orcid.org/0000-0001-5889-4463 Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. UMLS:C1832127 Square face Square facial shape Square facies human_phenotype HP:0000321 Square face HP:0000321 Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. PMID:19125436 Square face Square facial shape https://orcid.org/0000-0001-5889-4463 Square facies https://orcid.org/0000-0001-5889-4463 Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. HP:0200090 UMLS:C1861324 Decreased height of philtrum Decreased length of philtrum Decreased vertical dimension of philtrum Vertical hypoplasia of philtrum human_phenotype HP:0000322 Short philtrum HP:0000322 Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. PMID:19152422 Decreased height of philtrum https://orcid.org/0000-0001-5889-4463 Decreased length of philtrum https://orcid.org/0000-0001-5889-4463 Decreased vertical dimension of philtrum https://orcid.org/0000-0001-5889-4463 Vertical hypoplasia of philtrum https://orcid.org/0000-0001-5889-4463 true HP:0000323 An abnormal difference between the left and right sides of the face. HP:0003775 SNOMEDCT_US:15253005 UMLS:C1306710 Asymmetric facies Asymmetry of face Asymmetry of right and left side of face Crooked face Facial asymmetry Unsymmetrical face human_phenotype Unbalanced face Unequal sides of face Uneven face Uneven sides of face HP:0000324 Facial asymmetry HP:0000324 An abnormal difference between the left and right sides of the face. https://orcid.org/0000-0002-0736-9199 Asymmetry of face https://orcid.org/0000-0001-5889-4463 Crooked face https://orcid.org/0000-0001-5889-4463 Facial asymmetry Unsymmetrical face https://orcid.org/0000-0001-5889-4463 Unbalanced face https://orcid.org/0000-0001-5889-4463 Unequal sides of face https://orcid.org/0000-0001-5889-4463 Uneven face https://orcid.org/0000-0001-5889-4463 Uneven sides of face https://orcid.org/0000-0001-5889-4463 Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. HP:0004645 HP:0004662 HP:0004668 UMLS:C1835884 Face with broad temples and narrow chin Inverted triangular face Triangular face Triangular facial shape Triangular facies human_phenotype HP:0000325 Several groups have used the term inverted triangular face to emphasize the fact that the point is facing downwards. Triangular face HP:0000325 Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. PMID:19125436 PMID:21166787 PMID:30515601 https://orcid.org/0000-0002-9602-2321 Face with broad temples and narrow chin https://orcid.org/0000-0001-5889-4463 Triangular face Triangular facial shape https://orcid.org/0000-0001-5889-4463 An abnormality of the Maxilla (upper jaw bone). UMLS:C4025862 Abnormality of the maxilla Abnormality of the upper jaw bone Abnormality of the upper jaw bones Anomaly of the maxilla Deformity of the maxilla Deformity of the upper jaw bones Malformation of the maxilla Malformation of the upper jaw bones human_phenotype HP:0000326 Abnormal maxilla morphology HP:0000326 An abnormality of the Maxilla (upper jaw bone). https://orcid.org/0000-0002-0736-9199 Abnormality of the upper jaw bone https://orcid.org/0000-0001-5889-4463 Abnormality of the upper jaw bones https://orcid.org/0000-0001-5889-4463 Anomaly of the maxilla https://orcid.org/0000-0001-5889-4463 Deformity of the maxilla https://orcid.org/0000-0001-5889-4463 Deformity of the upper jaw bones https://orcid.org/0000-0001-5889-4463 Malformation of the maxilla https://orcid.org/0000-0001-5889-4463 Malformation of the upper jaw bones https://orcid.org/0000-0001-5889-4463 Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. HP:0004644 Deficiency of upper jaw bones UMLS:C0240310 UMLS:C4082243 UMLS:C4280640 UMLS:C4280641 UMLS:C4280642 UMLS:C4280643 Decreased size of maxilla Decreased size of upper jaw Hypoplasia of upper jaw bones Hypoplastic maxillary bones Maxillary deficiency Maxillary hypoplasia Maxillary micrognathia Maxillary retrognathia Maxillary retrusion Micromaxilla Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion Decreased projection of maxilla Decreased projection of upper jaw human_phenotype Hypotrophic maxilla Hypotrophic upper jaw bones Retrognathia of upper jaw Retrusion of upper jaw bones HP:0000327 Hypoplasia of the maxilla HP:0000327 Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. https://orcid.org/0000-0002-0736-9199 Deficiency of upper jaw bones https://orcid.org/0000-0001-5889-4463 Decreased size of maxilla https://orcid.org/0000-0001-5889-4463 Decreased size of upper jaw https://orcid.org/0000-0001-5889-4463 Hypoplasia of upper jaw bones https://orcid.org/0000-0001-5889-4463 Maxillary deficiency https://orcid.org/0000-0001-5889-4463 Maxillary hypoplasia https://orcid.org/0000-0001-5889-4463 Maxillary micrognathia https://orcid.org/0000-0001-5889-4463 Maxillary retrognathia https://orcid.org/0000-0001-5889-4463 Maxillary retrusion https://orcid.org/0000-0001-5889-4463 Micromaxilla https://orcid.org/0000-0001-5889-4463 Small maxilla https://orcid.org/0000-0001-5889-4463 Small upper jaw https://orcid.org/0000-0001-5889-4463 Small upper jaw bones https://orcid.org/0000-0001-5889-4463 Upper jaw deficiency https://orcid.org/0000-0001-5889-4463 Upper jaw retrusion https://orcid.org/0000-0001-5889-4463 Decreased projection of maxilla https://orcid.org/0000-0001-5889-4463 Decreased projection of upper jaw https://orcid.org/0000-0001-5889-4463 Hypotrophic maxilla https://orcid.org/0000-0001-5889-4463 Hypotrophic upper jaw bones https://orcid.org/0000-0001-5889-4463 Retrognathia of upper jaw https://orcid.org/0000-0001-5889-4463 Retrusion of upper jaw bones https://orcid.org/0000-0001-5889-4463 true HP:0000328 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. UMLS:C1861443 Facial hemangiomata human_phenotype HP:0000329 Facial hemangioma HP:0000329 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. https://orcid.org/0000-0002-0736-9199 true HP:0000330 Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. SNOMEDCT_US:699439001 UMLS:C1839323 UMLS:C3697248 Decreased height of chin Short chin Short lower third of face Vertical deficiency of chin Vertical hypoplasia of chin human_phenotype Small chin HP:0000331 The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). Short chin HP:0000331 Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Decreased height of chin https://orcid.org/0000-0001-5889-4463 Short chin Short lower third of face Vertical deficiency of chin https://orcid.org/0000-0001-5889-4463 Small chin true HP:0000332 true HP:0000333 true HP:0000334 true HP:0000335 Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. UMLS:C1842060 UMLS:C4280636 UMLS:C4280637 UMLS:C4280638 UMLS:C4280639 Prominent brow Prominent supraorbital margins Prominent supraorbital ridge Protruding supraorbital ridge Supraorbital hyperostosis Hyperplasia of supraorbital margins Hyperplasia of supraorbital ridge Hypertrophy of supraorbital margins Hypertrophy of supraorbital ridge human_phenotype HP:0000336 Prominent supraorbital ridges HP:0000336 Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. PMID:19125436 Prominent brow Prominent supraorbital margins https://orcid.org/0000-0001-5889-4463 Hyperplasia of supraorbital margins https://orcid.org/0000-0001-5889-4463 Hypertrophy of supraorbital margins https://orcid.org/0000-0001-5889-4463 Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. HP:0000352 HP:0000354 UMLS:C1849089 Bitemporal widening Broad forehead Increased bitemporal dimension Increased bitemporal width Increased width of the forehead Intertemporal widening Wide forehead human_phenotype HP:0000337 Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. Broad forehead HP:0000337 Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. PMID:19125436 Bitemporal widening https://orcid.org/0000-0001-5889-4463 Broad forehead Increased width of the forehead https://orcid.org/0000-0001-5889-4463 Intertemporal widening https://orcid.org/0000-0001-5889-4463 Wide forehead A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. HP:0008769 SNOMEDCT_US:248149005 UMLS:C0813217 UMLS:C1862474 UMLS:C4280635 Dull facial expression Hypomimia human_phenotype Decreased facial expressions Decreased facial muscle movement HP:0000338 The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. Hypomimic face HP:0000338 A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. https://orcid.org/0000-0002-0736-9199 Dull facial expression Hypomimia https://orcid.org/0000-0001-5889-4463 Decreased facial expressions https://orcid.org/0000-0001-5889-4463 Decreased facial muscle movement https://orcid.org/0000-0001-5889-4463 Coarse facial features reminiscent of those of a boxer. UMLS:C1846011 Boxer-like facial appearance Pugilistic facial appearance human_phenotype HP:0000339 Pugilistic facies HP:0000339 Coarse facial features reminiscent of those of a boxer. https://orcid.org/0000-0002-0736-9199 Boxer-like facial appearance https://orcid.org/0000-0001-5889-4463 Pugilistic facial appearance https://orcid.org/0000-0001-5889-4463 Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. HP:0000351 HP:0004480 HP:0008493 HP:0008500 UMLS:C1857679 Inclined forehead Posteriorly sloping forehead Receding forehead Sloping forehead human_phenotype HP:0000340 Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. Sloping forehead HP:0000340 Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. PMID:19125436 Inclined forehead Posteriorly sloping forehead https://orcid.org/0000-0001-5889-4463 Receding forehead Sloping forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). HP:0000314 HP:0004674 HP:0004677 UMLS:C1839758 Bitemporal narrowing Bitemporal narrowness Bitemporal skull narrowing Decreased width of the forehead Intertemporal narrowing Narrow bitemporal diameter Narrow bitemporal width Narrow forehead Temporal narrowness human_phenotype HP:0000341 A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Narrow forehead HP:0000341 Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). PMID:19125436 Decreased width of the forehead https://orcid.org/0000-0001-5889-4463 Narrow forehead true HP:0000342 Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. UMLS:C1865014 Elongated philtrum Increased height of philtrum Increased length of philtrum Increased vertical dimension of philtrum Vertical hyperplasia of philtrum human_phenotype HP:0000343 Long philtrum HP:0000343 Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. PMID:19152422 Elongated philtrum https://orcid.org/0000-0001-5889-4463 Increased height of philtrum https://orcid.org/0000-0001-5889-4463 Increased length of philtrum https://orcid.org/0000-0001-5889-4463 Increased vertical dimension of philtrum https://orcid.org/0000-0001-5889-4463 Vertical hyperplasia of philtrum https://orcid.org/0000-0001-5889-4463 true HP:0000344 true HP:0000345 An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. UMLS:C1848473 Whistling appearance Whistling facial appearance human_phenotype HP:0000346 Whistling appearance HP:0000346 An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. PMID:856233 https://orcid.org/0000-0002-0736-9199 Whistling appearance Whistling facial appearance https://orcid.org/0000-0001-5889-4463 Developmental hypoplasia of the mandible. HP:0000210 HP:0000330 HP:0000345 HP:0002005 HP:0002674 HP:0004669 HP:0005460 HP:0005470 Deficiency of lower jaw Fyler:4163 SNOMEDCT_US:32958008 UMLS:C0025990 UMLS:C0240295 UMLS:C1857130 Decreased size of lower jaw Decreased size of mandible Hypoplasia of lower jaw Hypoplasia of mandible Hypoplastic mandible Hypoplastic mandible condyle Hypotrophic lower jaw Hypotrophic mandible Little lower jaw Little mandible Lower jaw deficiency Lower jaw hypoplasia Mandibular deficiency Mandibular hypoplasia Mandibular micrognathia Micrognathia of lower jaw Micromandible Robin mandible Severe hypoplasia of mandible Small jaw Small lower jaw Small mandible Underdevelopment of lower jaw Underdevelopment of mandible Decreased projection of lower jaw Decreased projection of mandible human_phenotype HP:0000347 Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. Micrognathia HP:0000347 Developmental hypoplasia of the mandible. https://orcid.org/0000-0002-0736-9199 Deficiency of lower jaw https://orcid.org/0000-0001-5889-4463 Hypoplasia of lower jaw https://orcid.org/0000-0001-5889-4463 Hypotrophic lower jaw https://orcid.org/0000-0001-5889-4463 Hypotrophic mandible https://orcid.org/0000-0001-5889-4463 Little lower jaw Lower jaw hypoplasia https://orcid.org/0000-0002-5316-1399 Small jaw Small lower jaw Decreased projection of lower jaw https://orcid.org/0000-0001-5889-4463 Decreased projection of mandible https://orcid.org/0000-0001-5889-4463 An abnormally increased height of the forehead. HP:0000342 UMLS:C0239676 UMLS:C2677762 High forehead human_phenotype Tall forehead HP:0000348 High forehead HP:0000348 An abnormally increased height of the forehead. https://orcid.org/0000-0002-0736-9199 High forehead Tall forehead https://orcid.org/0000-0001-5889-4463 Frontal hairline with bilateral arcs to a low point in the midline of the forehead. HP:0004544 UMLS:C1853486 Hairline peak Hairline point Pointed frontal hairline Pointed hairline at front of head V-shaped frontal hairline Widow's peak human_phenotype HP:0000349 The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. Widow's peak HP:0000349 Frontal hairline with bilateral arcs to a low point in the midline of the forehead. PMID:19125436 Hairline peak https://orcid.org/0000-0001-5889-4463 Hairline point https://orcid.org/0000-0001-5889-4463 Pointed hairline at front of head https://orcid.org/0000-0001-5889-4463 V-shaped frontal hairline https://orcid.org/0000-0001-5889-4463 Widow's peak The presence of a forehead that is abnormally small. UMLS:C1845250 UMLS:C4280633 UMLS:C4280634 Decreased size of forehead Decreased size of frontal region of face Small forehead Hypoplasia of forehead Hypotrophic forehead human_phenotype HP:0000350 Small forehead HP:0000350 The presence of a forehead that is abnormally small. https://orcid.org/0000-0002-0736-9199 Decreased size of forehead https://orcid.org/0000-0001-5889-4463 Decreased size of frontal region of face https://orcid.org/0000-0001-5889-4463 Small forehead Hypoplasia of forehead https://orcid.org/0000-0001-5889-4463 Hypotrophic forehead https://orcid.org/0000-0001-5889-4463 true HP:0000351 true HP:0000352 true HP:0000353 true HP:0000354 true HP:0000355 An abnormality of the external ear. HP:0001752 SNOMEDCT_US:275259005 UMLS:C0266589 UMLS:C1846460 Abnormal pinnae Abnormality of the auricle Abnormality of the external ear Abnormality of the outer ear External ear malformation External ear malformations Malformed pinnae Outer ear abnormality human_phenotype HP:0000356 Abnormality of the outer ear HP:0000356 An abnormality of the external ear. https://orcid.org/0000-0002-0736-9199 Abnormality of the external ear Abnormality of the outer ear External ear malformations Outer ear abnormality Abnormal location of the ear. UMLS:C4021810 Abnormal location of ears External ear position defect human_phenotype HP:0000357 Abnormal location of ears HP:0000357 Abnormal location of the ear. https://orcid.org/0000-0002-0736-9199 Abnormal location of ears A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). HP:0000368 HP:0008535 SNOMEDCT_US:253251006 UMLS:C0431478 Ear, posterior angulation, increased Ears rotated toward back of head Posteriorly angulated ears Posteriorly rotated Posteriorly rotated auricles Posteriorly-angulated ears Posteriorly-rotated ears human_phenotype HP:0000358 Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. Posteriorly rotated ears HP:0000358 A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). PMID:19152421 https://orcid.org/0000-0002-0736-9199 Ears rotated toward back of head https://orcid.org/0000-0002-6548-5200 An abnormality of the inner ear. UMLS:C4021809 Abnormality of the inner ear Inner ear abnormality human_phenotype HP:0000359 Abnormality of the inner ear HP:0000359 An abnormality of the inner ear. https://orcid.org/0000-0002-0736-9199 Abnormality of the inner ear Inner ear abnormality Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. SNOMEDCT_US:162349004 SNOMEDCT_US:162352007 SNOMEDCT_US:60862001 UMLS:C0040264 Ringing in ears Ringing in the ears human_phenotype HP:0000360 Tinnitus HP:0000360 Ringing in the ears https://orcid.org/0000-0001-5208-3432 Ringing in ears HP:0008629 human_phenotype HP:0000361 obsolete Pulsatile tinnitus (tympanic paraganglioma) true HP:0000361 In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. SNOMEDCT_US:11543004 UMLS:C0029899 human_phenotype HP:0000362 Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. Otosclerosis HP:0000362 In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. PMID:15931303 https://orcid.org/0000-0002-0736-9199 An abnormality of the lobule of pinna. UMLS:C4021808 Abnormal earlobe Abnormal lobe of ear Abnormality of auricular lobule Abnormality of ear lobe Abnormality of earlobe Abnormality of lobulus auriculae human_phenotype HP:0000363 Abnormal earlobe morphology HP:0000363 An abnormality of the lobule of pinna. https://orcid.org/0000-0002-0736-9199 Abnormal earlobe Abnormality of ear lobe Abnormality of earlobe An abnormality of the sensory perception of sound. UMLS:C4025860 Abnormal hearing Hearing abnormality human_phenotype HP:0000364 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. Hearing abnormality HP:0000364 An abnormality of the sensory perception of sound. https://orcid.org/0000-0002-0736-9199 Abnormal hearing https://orcid.org/0000-0002-5316-1399 Hearing abnormality A decreased magnitude of the sensory perception of sound. HP:0000404 HP:0001728 HP:0001729 HP:0001754 HP:0008560 HP:0008563 Fyler:4868 SNOMEDCT_US:103276001 SNOMEDCT_US:15188001 SNOMEDCT_US:343087000 SNOMEDCT_US:95828007 UMLS:C0011053 UMLS:C0018772 UMLS:C0339789 UMLS:C1384666 Deafness Hearing defect Hearing impairment Hypacusis human_phenotype Hearing loss Hypoacusis HP:0000365 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. Hearing impairment HP:0000365 A decreased magnitude of the sensory perception of sound. https://orcid.org/0000-0002-0736-9199 Deafness Hearing defect Hearing impairment Hearing loss An abnormality of the nose. SNOMEDCT_US:128274005 SNOMEDCT_US:72089000 UMLS:C0240547 UMLS:C0265736 UMLS:C2235909 Abnormality of the nose Anomaly of the nose Nasal abnormality Nasal anomaly Deformity of the nose Malformation of the nose Nasal deformity Nasal malformation human_phenotype HP:0000366 Abnormality of the nose HP:0000366 An abnormality of the nose. https://orcid.org/0000-0002-0736-9199 Abnormality of the nose Anomaly of the nose https://orcid.org/0000-0001-5889-4463 Nasal abnormality https://orcid.org/0000-0001-5889-4463 Nasal anomaly https://orcid.org/0000-0001-5889-4463 Deformity of the nose https://orcid.org/0000-0001-5889-4463 Malformation of the nose https://orcid.org/0000-0001-5889-4463 Nasal deformity https://orcid.org/0000-0001-5889-4463 Nasal malformation https://orcid.org/0000-0001-5889-4463 true HP:0000367 HP:0000358 human_phenotype HP:0000368 This bundled term has been retired. It is preferable to code each feature separately. obsolete Low-set, posteriorly rotated ears true HP:0000368 Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. SNOMEDCT_US:95515009 UMLS:C0239234 Low set ears Low-set ears Low-set pinnae Lowset ears Melotia human_phenotype HP:0000369 Low-set ears HP:0000369 Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Low set ears Low-set ears Lowset ears An abnormality of the middle ear. UMLS:C1861141 Middle ear abnormalities Middle ear abnormality human_phenotype HP:0000370 Abnormality of the middle ear HP:0000370 An abnormality of the middle ear. https://orcid.org/0000-0002-0736-9199 Acute otitis media is a short and generally painful infection of the middle ear. SNOMEDCT_US:3110003 UMLS:C0271429 Acute middle ear infection human_phenotype HP:0000371 Acute otitis media HP:0000371 Acute otitis media is a short and generally painful infection of the middle ear. https://orcid.org/0000-0002-0736-9199 Acute middle ear infection https://orcid.org/0000-0001-6908-9849 Any structural abnormality of the external acoustic tube (also known as the auditory canal). UMLS:C4021807 Abnormality of the auditory canal Auditory canal abnormality human_phenotype HP:0000372 Abnormal auditory canal morphology HP:0000372 Any structural abnormality of the external acoustic tube (also known as the auditory canal). https://orcid.org/0000-0002-0736-9199 true HP:0000373 true HP:0000374 An abnormality of the cochlea. UMLS:C4025858 Abnormality of cochlea human_phenotype HP:0000375 The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. Abnormal cochlea morphology HP:0000375 An abnormality of the cochlea. https://orcid.org/0000-0002-0736-9199 With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. UMLS:C1857078 UMLS:C4025857 human_phenotype Cochlear malformation defect (Mondini dysplasia) Mondini defect Mondini dysplasia Mondini malformation HP:0000376 The triad of incomplete partition of the cochlea type II, dilation of the vestibule, and an enlarged vestibular aqueduct was previously referred to as a Mondini malformation but this nomenclature is no longer recommended. It is important to note that while reading the related literature, it is often not easy to understand if the authors use the correct terminology, so even in recent studies, the term Mondini should be considered with caution. Incomplete partition of the cochlea type II HP:0000376 With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. PMID:21849370 PMID:34698066 https://orcid.org/0000-0002-0736-9199 An abnormality of the pinna, which is also referred to as the auricle or external ear. HP:0000390 HP:0000398 HP:0004465 HP:0008562 HP:0008566 HP:0008567 HP:0008572 HP:0008580 HP:0008582 HP:0008594 HP:0008602 HP:0040111 SNOMEDCT_US:253255002 UMLS:C0431483 UMLS:C0857379 Abnormal form of ears Abnormally shaped ears Auricular malformation Deformed auricles Deformed ears Dysplastic ears Malformation of auricle Malformed auricles Malformed ears Malformed external ears Minor malformation of the auricles Poorly defined conchae human_phenotype HP:0000377 The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. Abnormal pinna morphology HP:0000377 An abnormality of the pinna, which is also referred to as the auricle or external ear. https://orcid.org/0000-0002-0736-9199 Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). HP:0008531 HP:0008600 UMLS:C1845447 UMLS:C4020892 Cup-shaped ears Cupped ear Simple, cup-shaped ears human_phenotype Capuchin ears Cupped ears HP:0000378 Cupped ear HP:0000378 Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). PMID:19162421 PMID:22073081 https://orcid.org/0000-0002-0736-9199 Cup-shaped ears Cupped ear Simple, cup-shaped ears Cupped ears https://orcid.org/0000-0002-5316-1399 true HP:0000379 true HP:0000380 Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). UMLS:C1861326 Stapes fixation human_phenotype HP:0000381 Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. Stapes ankylosis HP:0000381 Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). PMID:12089654 https://orcid.org/0000-0002-0736-9199 true HP:0000382 UMLS:C4025856 Abnormality of periauricular region Abnormality of the region around the ear Anomaly of the periauricular region Deformity of the periauricular region Malformation of the periauricular region human_phenotype HP:0000383 Abnormal periauricular region morphology HP:0000383 Abnormality of the region around the ear https://orcid.org/0000-0001-5889-4463 Anomaly of the periauricular region https://orcid.org/0000-0001-5889-4463 Deformity of the periauricular region https://orcid.org/0000-0001-5889-4463 Malformation of the periauricular region https://orcid.org/0000-0001-5889-4463 A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). HP:0008575 HP:0100278 Skin tag in front of the ear Skin tag on the posterior cheek UMLS:C1860816 UMLS:C4072826 Ear tag Periauricular skin tag Preauricular acrochordon Preauricular fibroepithelial polyp Preauricular skin tags Preauricular tag Preauricular tags human_phenotype HP:0000384 Preauricular skin tag HP:0000384 A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). https://orcid.org/0000-0002-0736-9199 Skin tag in front of the ear https://orcid.org/0000-0001-5889-4463 Skin tag on the posterior cheek https://orcid.org/0000-0001-5889-4463 Ear tag https://orcid.org/0000-0001-5208-3432 Preauricular acrochordon https://orcid.org/0000-0001-5889-4463 Preauricular fibroepithelial polyp https://orcid.org/0000-0001-5889-4463 Reduced volume of the earlobe. HP:0008616 UMLS:C1842680 Hypoplastic earlobes Hypoplastic lobules Small earlobe Small earlobes human_phenotype HP:0000385 All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Small earlobe HP:0000385 Reduced volume of the earlobe. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Small earlobe Small earlobes https://orcid.org/0000-0002-5316-1399 true HP:0000386 Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. UMLS:C1849364 Absent ear lobes Absent earlobe Earlobe, absent Lobeless ears Lobule aplasia human_phenotype HP:0000387 Absent earlobe HP:0000387 Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Absent earlobe Earlobe, absent Lobeless ears Inflammation or infection of the middle ear. SNOMEDCT_US:65363002 UMLS:C0029882 Middle ear infection human_phenotype HP:0000388 Otitis media HP:0000388 Inflammation or infection of the middle ear. https://orcid.org/0000-0002-0736-9199 Middle ear infection https://orcid.org/0000-0001-6908-9849 Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. HP:0008524 SNOMEDCT_US:21186006 UMLS:C0271441 UMLS:C0743359 Chronic infections of the middle ear Otitis media, chronic human_phenotype Chronic ear infection Chronic middle ear infection HP:0000389 Chronic otitis media HP:0000389 Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. https://orcid.org/0000-0002-0736-9199 Chronic infections of the middle ear https://orcid.org/0000-0002-6548-5200 Otitis media, chronic https://orcid.org/0000-0002-5316-1399 Chronic middle ear infection true HP:0000390 Increased thickness of the helix of the ear. UMLS:C1837732 Thick helix human_phenotype HP:0000391 Thickened helices HP:0000391 Increased thickness of the helix of the ear. https://orcid.org/0000-0002-0736-9199 true HP:0000392 true HP:0000393 Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. SNOMEDCT_US:76223006 UMLS:C0266614 human_phenotype HP:0000394 The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. Lop ear HP:0000394 Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. PMID:19152421 https://orcid.org/0000-0002-0736-9199 The presence of an abnormally prominent antihelix. UMLS:C1845272 human_phenotype HP:0000395 Prominent antihelix HP:0000395 The presence of an abnormally prominent antihelix. https://orcid.org/0000-0002-0736-9199 A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. HP:0001758 HP:0008570 UMLS:C1837731 Over-folded helices Overfolded ears Overfolded helices human_phenotype HP:0000396 This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. Overfolded helix HP:0000396 A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Overfolded ears true HP:0000397 true HP:0000398 A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. HP:0001731 UMLS:C4021806 Deafness, sensorineural, prelingual Prelingual sensorineural deafness human_phenotype HP:0000399 Prelingual sensorineural hearing impairment HP:0000399 A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. https://orcid.org/0000-0002-0736-9199 Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). HP:0000382 HP:0000386 HP:0000401 HP:0001755 SNOMEDCT_US:275480001 SNOMEDCT_US:69056000 UMLS:C0152421 UMLS:C0554972 UMLS:C1835581 UMLS:C1848570 UMLS:C1850189 UMLS:C1855062 UMLS:C1860838 Large ears Large pinnae human_phenotype HP:0000400 This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. Macrotia HP:0000400 Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). PMID:19152421 Large ears true HP:0000401 An abnormal narrowing of the external auditory canal. HP:0000373 Narrow ear canal SNOMEDCT_US:300127002 SNOMEDCT_US:301061006 UMLS:C0395837 UMLS:C0576860 External auditory canal stenosis Narrow auditory canals Narrow external auditory canals Narrow external auditory meatus Narrowing of passageway from outer ear to middle ear Stenotic external auditory canal human_phenotype HP:0000402 Stenosis of the external auditory canal HP:0000402 An abnormal narrowing of the external auditory canal. https://orcid.org/0000-0002-0736-9199 Narrow ear canal https://orcid.org/0000-0001-5208-3432 Narrowing of passageway from outer ear to middle ear https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. HP:0008622 HP:0008623 HP:0008624 HP:0040268 UMLS:C0747085 Frequent otitis media Multiple episodes of otitis media Otitis media, recurrent Recurrent episodes of otitis media Recurrent middle ear infection Susceptibility to otitis media human_phenotype HP:0000403 Recurrent otitis media HP:0000403 Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. https://orcid.org/0000-0002-0736-9199 Otitis media, recurrent https://orcid.org/0000-0002-5316-1399 Recurrent middle ear infection https://orcid.org/0000-0001-6908-9849 true HP:0000404 An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. HP:0000367 HP:0008581 SNOMEDCT_US:44057004 UMLS:C0018777 Conduction deafness Conductive deafness Conductive hearing loss Hearing loss, conductive human_phenotype HP:0000405 A conductive hearing impariment with greater than 90 dB loss. Conductive hearing impairment HP:0000405 An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. https://orcid.org/0000-0002-0736-9199 Conductive deafness Conductive hearing loss true HP:0000406 A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. HP:0000374 HP:0001753 HP:0001916 HP:0008538 HP:0008553 HP:0008565 HP:0008576 HP:0008611 HP:0008613 HP:0008614 SNOMEDCT_US:60700002 UMLS:C0018784 Hearing loss, sensorineural Sensorineural deafness Sensorineural hearing loss human_phenotype HP:0000407 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). Sensorineural hearing impairment HP:0000407 A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. https://orcid.org/0000-0002-0736-9199 Hearing loss, sensorineural https://orcid.org/0000-0002-5316-1399 A progressive form of sensorineural hearing impairment. HP:0000397 HP:0000406 HP:0008592 HP:0008601 HP:0008617 UMLS:C1843156 Bilateral progressive sensorineural hearing loss Hearing loss, progressive sensorineural Hearing loss, sensorineural, bilateral, progressive Hearing loss, sensorineural, progressive Progressive bilateral sensorineural hearing loss Sensorineural hearing loss, progressive human_phenotype HP:0000408 Progressive sensorineural hearing impairment HP:0000408 A progressive form of sensorineural hearing impairment. https://orcid.org/0000-0002-0736-9199 true HP:0000409 A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. SNOMEDCT_US:77507001 UMLS:C0155552 Hearing loss, mixed Mixed hearing impairment Mixed hearing loss human_phenotype HP:0000410 Mixed hearing impairment HP:0000410 A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. https://orcid.org/0000-0002-0736-9199 Hearing loss, mixed https://orcid.org/0000-0002-5316-1399 Mixed hearing impairment Mixed hearing loss Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). HP:0000412 SNOMEDCT_US:275478007 UMLS:C1305420 UMLS:C1855285 Prominent ear Prominent ears human_phenotype Protruding ears HP:0000411 Protruding ear HP:0000411 Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). PMID:19152421 Prominent ear Prominent ears Protruding ears https://orcid.org/0000-0002-5316-1399 true HP:0000412 Absence or failure to form of the external auditory canal. HP:0008547 HP:0008564 HP:0008626 UMLS:C1398325 UMLS:C1840305 UMLS:C1857079 UMLS:C1866190 Absent auditory canals Absent ear canal Absent external auditory canals Atretic auditory canal Atretic auditory canals Atretic external auditory canal Atretic external auditory canals Auditory canal atresia External acoustic meatus atresia External auditory canal atresia External auditory meatal atresia External auditory meatus atresia human_phenotype Atresia of the external auditory canals HP:0000413 Atresia of the external auditory canal HP:0000413 Absence or failure to form of the external auditory canal. https://orcid.org/0000-0002-0736-9199 Absent ear canal https://orcid.org/0000-0001-5208-3432 Atresia of the external auditory canals https://orcid.org/0000-0002-5316-1399 Increased volume and globular shape of the anteroinferior aspect of the nose. HP:0000443 UMLS:C0240543 UMLS:C1834118 UMLS:C1855751 Bulbous nose human_phenotype Bulbous nasal tip Potato nose HP:0000414 This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. Bulbous nose HP:0000414 Increased volume and globular shape of the anteroinferior aspect of the nose. PMID:19152422 Bulbous nose Potato nose https://orcid.org/0000-0001-5889-4463 Abnormality of the choanae (the posterior nasal apertures). UMLS:C4025855 Abnormality of the choanae human_phenotype HP:0000415 Abnormal choanae morphology HP:0000415 Abnormality of the choanae (the posterior nasal apertures). https://orcid.org/0000-0002-0736-9199 true HP:0000416 UMLS:C1857645 Slender nose human_phenotype HP:0000417 Slender nose HP:0000417 Slender nose Decreased width of the nasal ridge. UMLS:C1837761 Decreased width of dorsum of nose Decreased width of nasal dorsum Decreased width of nasal ridge Narrow dorsum of nose Narrow nasal dorsum Narrow nasal ridge Pinched nose Thin dorsum of nose Thin nasal dorsum Thin nasal ridge human_phenotype HP:0000418 This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. Narrow nasal ridge HP:0000418 Decreased width of the nasal ridge. PMID:19152422 Decreased width of nasal ridge Narrow nasal ridge Pinched nose Thin nasal ridge An abnormality of the nasal septum. SNOMEDCT_US:95433000 UMLS:C0151790 Abnormality of septum of nose Abnormality of the nasal septum Anomaly of nasal septum Anomaly of septum of nose human_phenotype HP:0000419 Abnormal nasal septum morphology HP:0000419 An abnormality of the nasal septum. https://orcid.org/0000-0002-0736-9199 Abnormality of septum of nose https://orcid.org/0000-0001-5889-4463 Abnormality of the nasal septum Anomaly of nasal septum https://orcid.org/0000-0001-5889-4463 Anomaly of septum of nose https://orcid.org/0000-0001-5889-4463 Reduced superior to inferior length of the nasal septum. UMLS:C1844857 Decreased length of nasal septum Decreased length of septum of nose Short nasal septum Short septum of nose human_phenotype HP:0000420 Short nasal septum HP:0000420 Reduced superior to inferior length of the nasal septum. https://orcid.org/0000-0002-0736-9199 Decreased length of nasal septum https://orcid.org/0000-0001-5889-4463 Decreased length of septum of nose https://orcid.org/0000-0001-5889-4463 Short nasal septum Short septum of nose https://orcid.org/0000-0001-5889-4463 Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. COHD:318556 EFO:0003895 ICD10:R04.0 ICD9:784.7 NCIT:C26766 SNOMEDCT_US:12441001 SNOMEDCT_US:249366005 UMLS:C0014591 Bloody nose Frequent nosebleeds Nasal haemorrhage Nasal hemorrhage Nose bleed Nose bleeding Nosebleed human_phenotype HP:0000421 Epistaxis HP:0000421 Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. https://orcid.org/0000-0002-0736-9199 Bloody nose https://orcid.org/0000-0001-5889-4463 Frequent nosebleeds Nasal haemorrhage Nasal hemorrhage NCIT:C26766 Nose bleed NCIT:C26766 Nose bleeding Nosebleed NCIT:C26766 Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. HP:0000423 UMLS:C4021805 Abnormality of the bridge of the nose Abnormality of the nasal bridge Abnormality of the nasal root Deformity of the bridge of the nose Deformity of the nasal bridge Malformation of the bridge of the nose Malformation of the nasal bridge human_phenotype HP:0000422 The nasal root is the most depressed, superior part of the nose along the nasal ridge. Abnormal nasal bridge morphology HP:0000422 Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Abnormality of the bridge of the nose https://orcid.org/0000-0001-5889-4463 Abnormality of the nasal bridge Deformity of the bridge of the nose https://orcid.org/0000-0001-5889-4463 Deformity of the nasal bridge https://orcid.org/0000-0001-5889-4463 Malformation of the bridge of the nose https://orcid.org/0000-0001-5889-4463 Malformation of the nasal bridge https://orcid.org/0000-0001-5889-4463 true HP:0000423 true HP:0000424 true HP:0000425 Anterior positioning of the nasal root in comparison to the usual positioning for age. HP:0000432 HP:0000442 HP:0004498 HP:0005287 UMLS:C1854113 UMLS:C4230640 Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal bridge Prominent nasal root Protruding bridge of nose Protruding nasal bridge human_phenotype Convex bridge of nose Convex nasal bridge HP:0000426 A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. Prominent nasal bridge HP:0000426 Anterior positioning of the nasal root in comparison to the usual positioning for age. PMID:19152422 Elevated nasal bridge High nasal bridge Prominent bridge of nose https://orcid.org/0000-0001-5889-4463 Prominent nasal bridge Prominent nasal root Protruding bridge of nose https://orcid.org/0000-0001-5889-4463 Protruding nasal bridge https://orcid.org/0000-0001-5889-4463 Convex bridge of nose https://orcid.org/0000-0001-5889-4463 Convex nasal bridge https://orcid.org/0000-0001-5889-4463 true HP:0000427 true HP:0000428 An abnormality of the Ala of nose. UMLS:C2227020 UMLS:C4021804 UMLS:C4280631 UMLS:C4280632 Abnormality of the nasal ala Abnormality of the nasal alae Abnormality of the nasal alar cartilage Deformity of the nasal ala Deformity of the nasal alar cartilage Malformation of the nasal ala Malformation of the nasal alar cartilage human_phenotype HP:0000429 The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. Abnormal morphology of the nasal alae HP:0000429 An abnormality of the Ala of nose. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Abnormality of the nasal alar cartilage https://orcid.org/0000-0001-5889-4463 Deformity of the nasal ala https://orcid.org/0000-0001-5889-4463 Deformity of the nasal alar cartilage https://orcid.org/0000-0001-5889-4463 Malformation of the nasal ala https://orcid.org/0000-0001-5889-4463 Malformation of the nasal alar cartilage https://orcid.org/0000-0001-5889-4463 Thinned, deficient, or excessively arched ala nasi. HP:0004497 HP:0004507 HP:0005276 HP:0005277 HP:0005286 UMLS:C1834055 Ala nasi, underdeveloped Alar cartilage hypoplasia Decreased size of nasal alae Hypoplastic alae nasae Hypoplastic alae nasi Hypoplastic alar cartilage Hypoplastic alar nasae Hypoplastic nares Hypoplastic nasal alae Hypoplastic nasal wings Hypoplastic nostrils Nasal cartilage hypoplasia Small nasal alae Thin hypoplastic alae nasi Underdeveloped tissue around nostril human_phenotype HP:0000430 The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. Underdeveloped nasal alae HP:0000430 Thinned, deficient, or excessively arched ala nasi. PMID:19152422 Decreased size of nasal alae https://orcid.org/0000-0001-5889-4463 Small nasal alae https://orcid.org/0000-0001-5889-4463 Underdeveloped tissue around nostril https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Increased breadth of the nasal bridge (and with it, the nasal root). HP:0000424 HP:0004500 HP:0004504 HP:0004650 HP:0200139 SNOMEDCT_US:249321001 UMLS:C1839764 UMLS:C1849367 Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Nasal bridge, wide Wide bridge of nose Wide nasal bridge Widened nasal bridge human_phenotype Broad flat nasal bridge HP:0000431 Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. Wide nasal bridge HP:0000431 Increased breadth of the nasal bridge (and with it, the nasal root). PMID:19152422 https://orcid.org/0000-0002-0736-9199 Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose https://orcid.org/0000-0001-5889-4463 Increased breadth of nasal bridge https://orcid.org/0000-0001-5889-4463 Increased width of bridge of nose https://orcid.org/0000-0001-5889-4463 Increased width of nasal bridge https://orcid.org/0000-0001-5889-4463 Nasal bridge broad Wide bridge of nose https://orcid.org/0000-0001-5889-4463 Wide nasal bridge Widened nasal bridge Broad flat nasal bridge https://orcid.org/0000-0002-5316-1399 true HP:0000432 UMLS:C4025854 Abnormality of mucosa of nose Abnormality of mucous membrane of nose Abnormality of nasal mucous membrane Abnormality of the nasal mucosa human_phenotype HP:0000433 Abnormal nasal mucosa morphology HP:0000433 Abnormality of mucosa of nose https://orcid.org/0000-0001-5889-4463 Abnormality of mucous membrane of nose https://orcid.org/0000-0001-5889-4463 Abnormality of nasal mucous membrane https://orcid.org/0000-0001-5889-4463 Abnormality of the nasal mucosa Telangiectasia of the nasal mucosa. UMLS:C4025853 Angioectasia of mucosa of nose Angioectasia of mucous membrane of nose Angioectasia of nasal mucous membrane Nasal mucous membrane telangiectasia Spider veins of mucosa of nose Spider veins of mucous membrane of nose Spider veins of nasal mucous membrane Telangiectasia of mucosa of nose Telangiectasia of mucous membrane of nose Telangiectasia of nasal mucous membrane human_phenotype HP:0000434 Nasal mucosa telangiectasia HP:0000434 Telangiectasia of the nasal mucosa. https://orcid.org/0000-0002-0736-9199 Angioectasia of mucosa of nose https://orcid.org/0000-0001-5889-4463 Angioectasia of mucous membrane of nose https://orcid.org/0000-0001-5889-4463 Angioectasia of nasal mucous membrane https://orcid.org/0000-0001-5889-4463 Nasal mucous membrane telangiectasia https://orcid.org/0000-0001-5889-4463 Spider veins of mucosa of nose https://orcid.org/0000-0001-5889-4463 Spider veins of mucous membrane of nose https://orcid.org/0000-0001-5889-4463 Spider veins of nasal mucous membrane https://orcid.org/0000-0001-5889-4463 Telangiectasia of mucosa of nose https://orcid.org/0000-0001-5889-4463 Telangiectasia of mucous membrane of nose https://orcid.org/0000-0001-5889-4463 Telangiectasia of nasal mucous membrane https://orcid.org/0000-0001-5889-4463 true HP:0000435 An abnormality of the nasal tip. UMLS:C4025852 Abnormality of the nasal tip Abnormality of tip of nose Deformity of the nasal tip Deformity of tip of nose Malformation of the nasal tip Malformation of tip of nose human_phenotype HP:0000436 The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. Abnormal nasal tip morphology HP:0000436 An abnormality of the nasal tip. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Abnormality of the nasal tip Abnormality of tip of nose https://orcid.org/0000-0001-5889-4463 Deformity of the nasal tip https://orcid.org/0000-0001-5889-4463 Deformity of tip of nose https://orcid.org/0000-0001-5889-4463 Malformation of the nasal tip https://orcid.org/0000-0001-5889-4463 Malformation of tip of nose https://orcid.org/0000-0001-5889-4463 Decreased distance from the nasal tip to the nasal base. HP:0005279 UMLS:C1859717 Caved in nasal tip Depressed nasal tip Depressed tip of nose Flat nasal tip Flat tip of nose Flattened nasal tip Nasal tip, depressed Nasal tip, recessed Nasal tip, retruded Retruded tip of nose human_phenotype HP:0000437 This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. Depressed nasal tip HP:0000437 Decreased distance from the nasal tip to the nasal base. PMID:19152422 Caved in nasal tip https://orcid.org/0000-0001-5889-4463 Depressed nasal tip Depressed tip of nose https://orcid.org/0000-0001-5889-4463 Flat nasal tip Flat tip of nose https://orcid.org/0000-0001-5889-4463 Flattened nasal tip Nasal tip, depressed Retruded tip of nose https://orcid.org/0000-0001-5889-4463 true HP:0000438 true HP:0000439 true HP:0000440 true HP:0000441 true HP:0000442 true HP:0000443 Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. HP:0003683 UMLS:C0240538 Beaked nose Beaklike protrusion Convex dorsum of nose Convex nasal dorsum Hooked nose Polly beak nasal deformity human_phenotype HP:0000444 Convex nasal ridge HP:0000444 Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. PMID:19152422 Beaked nose Beaklike protrusion Convex dorsum of nose https://orcid.org/0000-0001-5889-4463 Convex nasal dorsum https://orcid.org/0000-0001-5889-4463 Hooked nose Polly beak nasal deformity https://orcid.org/0000-0001-5889-4463 Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. HP:0000438 SNOMEDCT_US:249321001 UMLS:C0426421 Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose Wide nose human_phenotype HP:0000445 Wide nose HP:0000445 Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. PMID:19152422 Broad nose Increased breadth of nose https://orcid.org/0000-0001-5889-4463 Increased nasal breadth https://orcid.org/0000-0001-5889-4463 Increased nasal width https://orcid.org/0000-0001-5889-4463 Increased width of nose https://orcid.org/0000-0001-5889-4463 Wide nose Decreased width of the bony bridge of the nose. HP:0100782 UMLS:C4551564 Narrow bridge of nose Narrow nasal bridge Narrow nasal root Nasal Bridge, Narrow Nasal bridge, thin human_phenotype Pinched bridge of nose Pinched nasal bridge HP:0000446 The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. Narrow nasal bridge HP:0000446 Decreased width of the bony bridge of the nose. PMID:19152422 Narrow bridge of nose https://orcid.org/0000-0001-5889-4463 Narrow nasal bridge Nasal Bridge, Narrow Nasal bridge, thin Pinched bridge of nose https://orcid.org/0000-0001-5889-4463 Pinched nasal bridge UMLS:C1853482 Pear-shaped nose human_phenotype HP:0000447 Pear-shaped nose HP:0000447 Pear-shaped nose Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. HP:0000461 HP:0005271 HP:0200140 SNOMEDCT_US:249311009 UMLS:C0426415 UMLS:C1400105 UMLS:C4280629 Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Prominent nose Pronounced nose human_phenotype Hyperplasia of nose Hypertrophy of nose Nasal hyperplasia Nasal hypertrophy HP:0000448 Prominent nose HP:0000448 Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. PMID:19152422 Big nose https://orcid.org/0000-0001-5889-4463 Disproportionately large nose Increased nasal size https://orcid.org/0000-0001-5889-4463 Increased size of nose https://orcid.org/0000-0001-5889-4463 Large nose Prominent nose Pronounced nose https://orcid.org/0000-0001-5889-4463 Hyperplasia of nose https://orcid.org/0000-0001-5889-4463 Hypertrophy of nose https://orcid.org/0000-0001-5889-4463 Nasal hyperplasia https://orcid.org/0000-0001-5889-4463 Nasal hypertrophy https://orcid.org/0000-0001-5889-4463 true HP:0000449 true HP:0000450 UMLS:C1839765 Triangular nasal tip Triangular shaped tip of nose human_phenotype HP:0000451 Triangular nasal tip HP:0000451 Triangular nasal tip Triangular shaped tip of nose https://orcid.org/0000-0001-5889-4463 Abnormal narrowing of the choana (the posterior nasal aperture). SNOMEDCT_US:306963008 UMLS:C0584837 Coanal stenosis Narrowing of the rear opening of the nasal cavity human_phenotype HP:0000452 Choanal stenosis HP:0000452 Abnormal narrowing of the choana (the posterior nasal aperture). https://orcid.org/0000-0002-0736-9199 Narrowing of the rear opening of the nasal cavity https://orcid.org/0000-0001-5889-4463 Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. HP:0000416 HP:0004496 HP:0004503 Fyler:4203 SNOMEDCT_US:204508009 UMLS:C0008297 Blockage of the rear opening of the nasal cavity human_phenotype HP:0000453 Choanal atresia HP:0000453 Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. PMID:4996574 https://orcid.org/0000-0001-5889-4463 Blockage of the rear opening of the nasal cavity https://orcid.org/0000-0001-5889-4463 SNOMEDCT_US:21558008 SNOMEDCT_US:248568003 UMLS:C0277873 Flared nasal alae Flared nostrils human_phenotype HP:0000454 Flared nostrils HP:0000454 Flared nostrils Increase in width of the nasal tip. HP:0004501 HP:0005269 SNOMEDCT_US:249327002 UMLS:C0426429 Broad nasal tip Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose human_phenotype Broad upturned nose HP:0000455 Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. Broad nasal tip HP:0000455 Increase in width of the nasal tip. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Broad nasal tip Broad tip of nose https://orcid.org/0000-0001-5889-4463 Broad, upturned nose Increased breadth of nasal tip https://orcid.org/0000-0001-5889-4463 Increased breadth of tip of nose https://orcid.org/0000-0001-5889-4463 Increased width of nasal tip https://orcid.org/0000-0001-5889-4463 Increased width of tip of nose https://orcid.org/0000-0001-5889-4463 Nasal tip, broad Nasal tip, wide Wide tip of nose https://orcid.org/0000-0001-5889-4463 Broad upturned nose A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. HP:0005282 SNOMEDCT_US:249326006 UMLS:C0426428 UMLS:C4020890 Bifid tip of nose Cleft nasal tip human_phenotype Cleft tip of nose Notched nasal tip Notched tip of nose HP:0000456 This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. Bifid nasal tip HP:0000456 A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. PMID:19152422 https://orcid.org/0009-0006-4530-3154 Bifid tip of nose https://orcid.org/0000-0001-5889-4463 Cleft nasal tip https://orcid.org/0000-0001-5889-4463 Cleft tip of nose https://orcid.org/0000-0001-5889-4463 Notched nasal tip Notched tip of nose https://orcid.org/0000-0001-5889-4463 Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. UMLS:C1842876 Depressed dorsum of nose Depressed nasal dorsum Flat dorsum of nose Flat nasal dorsum Flat nose Recessed dorsum of nose Recessed nasal dorsum Recessed nasal ridge Retruded dorsum of nose Retruded nasal dorsum Retruded nasal ridge human_phenotype HP:0000457 The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. Depressed nasal ridge HP:0000457 Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Depressed dorsum of nose https://orcid.org/0000-0001-5889-4463 Depressed nasal dorsum https://orcid.org/0000-0001-5889-4463 Flat dorsum of nose https://orcid.org/0000-0001-5889-4463 Flat nasal dorsum https://orcid.org/0000-0001-5889-4463 Flat nose Recessed dorsum of nose https://orcid.org/0000-0001-5889-4463 Recessed nasal dorsum https://orcid.org/0000-0001-5889-4463 Recessed nasal ridge https://orcid.org/0000-0001-5889-4463 Retruded dorsum of nose https://orcid.org/0000-0001-5889-4463 Retruded nasal dorsum https://orcid.org/0000-0001-5889-4463 Retruded nasal ridge https://orcid.org/0000-0001-5889-4463 An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. SNOMEDCT_US:44169009 UMLS:C0003126 Loss of smell Lost smell human_phenotype HP:0000458 Anosmia HP:0000458 An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. https://orcid.org/0000-0002-0736-9199 Lost smell true HP:0000459 Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. SNOMEDCT_US:249322008 UMLS:C0426422 Decreased nasal breadth Decreased nasal width Narrow nose Thin nose human_phenotype HP:0000460 Note: a small nose has both decreased height and a decreased width. These should be coded separately. Narrow nose HP:0000460 Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. PMID:19152422 Decreased nasal breadth https://orcid.org/0000-0001-5889-4463 Decreased nasal width https://orcid.org/0000-0001-5889-4463 Narrow nose Thin nose https://orcid.org/0000-0001-5889-4463 true HP:0000461 true HP:0000462 Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). HP:0000427 HP:0000435 HP:0000441 HP:0004495 SNOMEDCT_US:708670007 UMLS:C1840077 Anteverted nose Anteverted nostrils Nasal tip, upturned Nostrils anteverted Upturned nares Upturned nasal tip Upturned nose Upturned nostrils human_phenotype Upturned nasal tips HP:0000463 The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. Anteverted nares HP:0000463 Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). PMID:19152422 Nasal tip, upturned Upturned nares https://orcid.org/0000-0001-5889-4463 Upturned nasal tip Upturned nose Upturned nostrils https://orcid.org/0000-0001-5889-4463 Upturned nasal tips https://orcid.org/0000-0002-5316-1399 An abnormality of the neck. SNOMEDCT_US:298390003 SNOMEDCT_US:40052002 UMLS:C0266623 UMLS:C0575167 UMLS:C4280628 Abnormality of the neck Anomaly of the neck Deformity of the neck Malformation of the neck human_phenotype HP:0000464 Abnormality of the neck HP:0000464 An abnormality of the neck. https://orcid.org/0000-0002-0736-9199 Abnormality of the neck Anomaly of the neck https://orcid.org/0000-0001-5889-4463 Deformity of the neck https://orcid.org/0000-0001-5889-4463 Malformation of the neck https://orcid.org/0000-0001-5889-4463 Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. SNOMEDCT_US:11731003 UMLS:C0221217 Neck webbing Pterygium colli Webbed neck human_phenotype HP:0000465 Webbed neck HP:0000465 Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. PMID:24523736 https://orcid.org/0000-0002-0736-9199 Neck webbing Webbed neck UMLS:C1859212 Limited cervical range of motion Limited neck range of motion human_phenotype HP:0000466 Limited neck range of motion HP:0000466 Limited cervical range of motion https://orcid.org/0000-0001-5889-4463 Limited neck range of motion Decreased strength of the neck musculature. UMLS:C0240479 Floppy neck Neck muscle weakness Flaccid neck human_phenotype HP:0000467 Neck muscle weakness HP:0000467 Decreased strength of the neck musculature. https://orcid.org/0000-0002-0736-9199 Floppy neck https://orcid.org/0000-0001-5889-4463 Neck muscle weakness Flaccid neck https://orcid.org/0000-0001-5889-4463 An increased amount of subcutaneous fat tissue around the neck. UMLS:C4025850 Increased fat around the neck human_phenotype HP:0000468 Increased adipose tissue around the neck HP:0000468 An increased amount of subcutaneous fat tissue around the neck. https://orcid.org/0000-0002-0736-9199 Increased fat around the neck https://orcid.org/0000-0001-5889-4463 true HP:0000469 Diminished length of the neck. HP:0005992 HP:0200137 SNOMEDCT_US:95427009 UMLS:C0521525 Decreased length of neck Short neck human_phenotype HP:0000470 Short neck HP:0000470 Diminished length of the neck. https://orcid.org/0000-0002-0736-9199 Decreased length of neck https://orcid.org/0000-0001-5889-4463 Short neck Dysplasia affecting the vasculature of the gastrointestinal tract. UMLS:C0854242 GI angiodysplasia human_phenotype HP:0000471 Gastrointestinal angiodysplasia HP:0000471 Dysplasia affecting the vasculature of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 GI angiodysplasia Increased inferior-superior length of the neck. UMLS:C1839816 Cervical elongation Elongated neck Increased cervical length Increased length of neck Long neck human_phenotype HP:0000472 Long neck HP:0000472 Increased inferior-superior length of the neck. https://orcid.org/0000-0002-0736-9199 Cervical elongation https://orcid.org/0000-0001-5889-4463 Elongated neck https://orcid.org/0000-0001-5889-4463 Increased cervical length https://orcid.org/0000-0001-5889-4463 Increased length of neck https://orcid.org/0000-0001-5889-4463 Long neck Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. SNOMEDCT_US:270476009 SNOMEDCT_US:70070008 SNOMEDCT_US:74333002 UMLS:C0040485 UMLS:C0152116 UMLS:C0949445 Cervical dystonia Loxia Spasmodic torticollis Wry neck human_phenotype HP:0000473 The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. Torticollis HP:0000473 Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. https://orcid.org/0000-0002-0736-9199 Loxia https://orcid.org/0000-0001-5889-4463 Wry neck https://orcid.org/0000-0001-5889-4463 A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. HP:0000477 UMLS:C1836940 Excess nuchal skin Increased nuchal fold Increased nuchal fold thickness Thick nuchal fold Thickened nuchal skin Thickened skin folds of neck Thickened skin over the neck human_phenotype HP:0000474 The measurement of nuchal fold (NF) thickness during the second trimester is considered to be one of the most sensitive and specific isolated ultrasound marker for the identification of suspected cases of trisomy 21. Thick NF may also be seen in other aneuploidies as well as Turner's syndrome, Noonan's syndrome, Roberts syndrome, Zellweger syndrome and with congenital heart disease and with pathogenic CNVs. A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). Thickened nuchal skin fold HP:0000474 A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. PMID:16100637 PMID:30431620 https://orcid.org/0000-0002-0736-9199 Thickened nuchal skin https://orcid.org/0000-0001-5889-4463 Thickened skin folds of neck https://orcid.org/0000-0001-5889-4463 Thickened skin over the neck https://orcid.org/0000-0001-5889-4463 Increased side-to-side width of the neck. UMLS:C1853638 Broad neck Increased width of neck Wide neck human_phenotype Thick neck HP:0000475 Broad neck HP:0000475 Increased side-to-side width of the neck. https://orcid.org/0000-0002-0736-9199 Broad neck Increased width of neck https://orcid.org/0000-0001-5889-4463 Wide neck https://orcid.org/0000-0001-5889-4463 Thick neck https://orcid.org/0000-0001-5889-4463 A cystic lymphatic lesion of the neck. NCIT:C8965 SNOMEDCT_US:399882002 SNOMEDCT_US:40225001 SNOMEDCT_US:423984004 UMLS:C0206620 Cystic hygroma of the neck human_phenotype HP:0000476 Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. Cystic hygroma HP:0000476 A cystic lymphatic lesion of the neck. https://orcid.org/0000-0002-0736-9199 true HP:0000477 Any abnormality of the eye, including location, spacing, and intraocular abnormalities. SNOMEDCT_US:19416009 SNOMEDCT_US:371405004 SNOMEDCT_US:371409005 UMLS:C0015393 UMLS:C0015397 Abnormal eye Abnormality of the eye human_phenotype Eye disease HP:0000478 Abnormality of the eye HP:0000478 Any abnormality of the eye, including location, spacing, and intraocular abnormalities. https://orcid.org/0000-0002-0736-9199 Abnormal eye https://orcid.org/0000-0002-5316-1399 Abnormality of the eye Eye disease A structural abnormality of the retina. HP:0007901 HP:0007938 SNOMEDCT_US:29555009 UMLS:C0035300 UMLS:C0035309 Abnormal retina Abnormality of the retina Anomaly of the retina Retina issue human_phenotype Retinal disease HP:0000479 Abnormal retinal morphology HP:0000479 A structural abnormality of the retina. https://orcid.org/0000-0002-0736-9199 Abnormal retina https://orcid.org/0000-0002-5316-1399 Retina issue A notch or cleft of the retina or choroid, located vertically below the optic disc. HP:0007808 UMLS:C3540764 Hole in the back of the eye human_phenotype HP:0000480 Retinal coloboma HP:0000480 A notch or cleft of the retina or choroid, located vertically below the optic disc. https://orcid.org/0000-0002-0736-9199 Hole in the back of the eye https://orcid.org/0000-0002-6548-5200 Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. HP:0007771 HP:0007972 UMLS:C1855670 UMLS:C4020889 Abnormality of the cornea Corneal abnormalities Corneal abnormality human_phenotype Cornela disease HP:0000481 Abnormal cornea morphology HP:0000481 Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. https://orcid.org/0000-0002-0736-9199 A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. HP:0100688 SNOMEDCT_US:26098002 UMLS:C0266544 UMLS:C1167713 Cornea of eye less than 10mm in diameter Decreased corneal diameter human_phenotype HP:0000482 Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. Microcornea HP:0000482 A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. https://orcid.org/0000-0002-0736-9199 Cornea of eye less than 10mm in diameter https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. SNOMEDCT_US:82649003 UMLS:C0004106 Abnormal curving of the cornea or lens of the eye Astigmatism human_phenotype HP:0000483 The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. Astigmatism HP:0000483 A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. HPO_CONTRIBUTOR:DDD_ncarter https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Abnormal curving of the cornea or lens of the eye https://orcid.org/0000-0002-6548-5200 Astigmatism A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. SNOMEDCT_US:449734001 UMLS:C1847524 human_phenotype HP:0000484 Hyperopic astigmatism HP:0000484 A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. https://orcid.org/0000-0002-0736-9199 An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. HP:0007660 SNOMEDCT_US:204118005 SNOMEDCT_US:268158009 UMLS:C0344530 UMLS:C1167712 Anterior megalophthalmos Enlarged cornea Increased corneal diameter Macrocornea human_phenotype HP:0000485 Megalocornea HP:0000485 An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. https://orcid.org/0000-0002-0736-9199 Enlarged cornea https://orcid.org/0000-0001-5208-3432 A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. HP:0000487 SNOMEDCT_US:128602000 SNOMEDCT_US:22066006 UMLS:C0038379 Cross-eyed Squint Squint eyes human_phenotype HP:0000486 Strabismus HP:0000486 A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. PMID:26319345 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Cross-eyed Squint Squint eyes https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 HP:0000486 human_phenotype HP:0000487 obsolete Congenital strabismus true HP:0000487 Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. SNOMEDCT_US:29555009 UMLS:C0035309 Noninflammatory retina disease human_phenotype HP:0000488 Retinopathy HP:0000488 Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. https://orcid.org/0000-0002-0736-9199 Noninflammatory retina disease https://orcid.org/0000-0001-5208-3432 HP:0100886 HP:0100887 human_phenotype HP:0000489 obsolete Abnormality of globe location or size true HP:0000489 An eye that is more deeply recessed into the plane of the face than is typical. HP:0000663 SNOMEDCT_US:246923005 SNOMEDCT_US:80093006 UMLS:C0014306 UMLS:C0423224 Deep set eye Deep-set eyes Deeply set eye Enophthalmos Ocular depression Sunken eye Sunken eyes human_phenotype HP:0000490 This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. Deeply set eye HP:0000490 An eye that is more deeply recessed into the plane of the face than is typical. PMID:19125427 Deep set eye Deep-set eyes Deeply set eye Sunken eye Inflammation of the cornea. SNOMEDCT_US:5888003 UMLS:C0022568 Corneal inflammation human_phenotype HP:0000491 Keratitis HP:0000491 Inflammation of the cornea. https://orcid.org/0000-0002-0736-9199 Corneal inflammation https://orcid.org/0000-0001-5208-3432 An abnormality of the eyelids. HP:0000285 UMLS:C4021803 Abnormality of the eyelid Abnormality of the eyelids human_phenotype HP:0000492 Abnormal eyelid morphology HP:0000492 An abnormality of the eyelids. https://orcid.org/0000-0002-0736-9199 Abnormality of the eyelid Abnormality of the eyelids An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. 2008-04-02T01:29:00Z UMLS:C4025849 Abnormality of the fovea human_phenotype HP:0000493 Abnormal foveal morphology HP:0000493 An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. https://orcid.org/0000-0002-0736-9199 The palpebral fissure inclination is more than two standard deviations below the mean. HP:0007714 HP:0007908 SNOMEDCT_US:246800008 UMLS:C0423110 Antimongoloid eye slant Antimongoloid slant of palpebral fissures Antimongoloid slanted palpebral fissures Down slanting palpebral fissures Down-slanted palpebral fissures Down-slanting palpebral fissure Down-slanting palpebral fissures Downslanting palpebral fissure Downslanting palpebral fissures Downward slanted palpebral fissures Downward slanting of the opening between the eyelids Downward slanting palpebral fissures Downward-slanting palpebral fissures Palpebral fissures down-slanted human_phenotype HP:0000494 Downslanted palpebral fissures HP:0000494 The palpebral fissure inclination is more than two standard deviations below the mean. PMID:19125427 Downslanting palpebral fissures https://orcid.org/0000-0002-5316-1399 Downward slanting of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 Downward slanting palpebral fissures https://orcid.org/0000-0002-5316-1399 The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. HP:0007674 HP:0007749 SNOMEDCT_US:2055003 SNOMEDCT_US:91514001 UMLS:C0010043 UMLS:C0155119 UMLS:C4020888 Corneal erosions, recurrent Recurrent breakdown of clear protective layer of eye Recurrent corneal ulceration human_phenotype Epithelial corneal erosions Recurrent corneal ulcerations HP:0000495 Recurrent corneal erosions HP:0000495 The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. https://orcid.org/0000-0002-0736-9199 Recurrent breakdown of clear protective layer of eye https://orcid.org/0000-0002-6548-5200 Recurrent corneal ulcerations https://orcid.org/0000-0002-5316-1399 An abnormality in voluntary or involuntary eye movements or their control. HP:0006860 SNOMEDCT_US:103252009 UMLS:C0497202 Abnormal extraocular movement Abnormal extraocular movements Abnormal eye motility Abnormal eye movement Abnormal eye movements Abnormal motility of the globe of the eye Abnormal movement of the globe of the eye Abnormal ocular movements Abnormality of eye movement Eye movement abnormalities Eye movement issue Ocular movement abnormalities Oculomotor abnormalities human_phenotype HP:0000496 Abnormality of eye movement HP:0000496 An abnormality in voluntary or involuntary eye movements or their control. https://orcid.org/0000-0002-0736-9199 Abnormal eye movement Abnormal eye movements Abnormal motility of the globe of the eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormal movement of the globe of the eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of eye movement Eye movement abnormalities Eye movement issue UMLS:C4025848 human_phenotype HP:0000497 Globe retraction and deviation on abduction HP:0000497 Inflammation of the eyelids. SNOMEDCT_US:231796003 SNOMEDCT_US:41446000 UMLS:C0005741 UMLS:C0339063 Cellulitis of eyelids Inflammation of eyelids human_phenotype HP:0000498 Blepharitis HP:0000498 Inflammation of the eyelids. https://orcid.org/0000-0002-0736-9199 Cellulitis of eyelids https://orcid.org/0000-0001-5889-4463 Inflammation of eyelids https://orcid.org/0000-0001-5889-4463 An abnormality of the eyelashes. HP:0004530 UMLS:C2675111 Abnormal eyelashes Abnormality of the eyelashes Eyelash abnormality human_phenotype HP:0000499 Abnormal eyelash morphology HP:0000499 An abnormality of the eyelashes. https://orcid.org/0000-0002-0736-9199 Abnormal eyelashes https://orcid.org/0000-0002-5316-1399 Abnormality of the eyelashes Eyelash abnormality true HP:0000500 Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. SNOMEDCT_US:23986001 UMLS:C0017601 human_phenotype HP:0000501 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognized at the superior and inferior poles of the optic disc. The vertical cup:disk ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. Glaucoma HP:0000501 Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. PMID:11815354 https://orcid.org/0000-0002-0736-9199 An abnormality of the conjunctiva. UMLS:C4025847 human_phenotype HP:0000502 The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). Abnormal conjunctiva morphology HP:0000502 An abnormality of the conjunctiva. https://orcid.org/0000-0002-0736-9199 The presence of an increased number of twists and turns of the conjunctival blood vessels. UMLS:C1855391 human_phenotype HP:0000503 Tortuosity of conjunctival vessels HP:0000503 The presence of an increased number of twists and turns of the conjunctival blood vessels. https://orcid.org/0000-0002-0736-9199 Abnormality of eyesight (visual perception). UMLS:C4025846 Abnormality of sight Abnormality of vision Vision issue human_phenotype HP:0000504 Abnormality of vision HP:0000504 Abnormality of eyesight (visual perception). https://orcid.org/0000-0002-0736-9199 Abnormality of sight https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of vision Vision issue Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. HP:0000516 HP:0000566 HP:0007758 HP:0007860 HP:0007983 SNOMEDCT_US:246635007 SNOMEDCT_US:397540003 SNOMEDCT_US:7973008 UMLS:C0042798 UMLS:C3665347 Impaired vision Loss of eyesight Poor vision Visual impairment human_phenotype HP:0000505 Visual impairment HP:0000505 Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. https://orcid.org/0000-0001-8727-6592 Impaired vision Loss of eyesight Poor vision Visual impairment Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. SNOMEDCT_US:246803005 UMLS:C0423113 Corners of eye widely separated Dystopia canthorum Increased distance between medial canthi Increased inner canthal distance Increased intercanthal distance human_phenotype HP:0000506 Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. Telecanthus HP:0000506 Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. https://orcid.org/0000-0002-0736-9199 Corners of eye widely separated https://orcid.org/0000-0001-5889-4463 Increased distance between medial canthi https://orcid.org/0000-0001-5889-4463 Increased intercanthal distance https://orcid.org/0000-0001-5889-4463 true HP:0000507 The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). SNOMEDCT_US:11934000 UMLS:C0005745 Blepharoptosis Drooping upper eyelid Eyelid ptosis Palpebral ptosis human_phenotype Eye drop HP:0000508 Ptosis HP:0000508 The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). PMID:19125427 Drooping upper eyelid https://orcid.org/0000-0001-5208-3432 Eyelid ptosis https://orcid.org/0000-0002-5316-1399 Eye drop Inflammation of the conjunctiva. SNOMEDCT_US:9826008 UMLS:C0009763 UMLS:C1864156 Pink eye human_phenotype Conjunctivitis, recurrent HP:0000509 Conjunctivitis HP:0000509 Inflammation of the conjunctiva. https://orcid.org/0000-0002-0736-9199 Pink eye https://orcid.org/0000-0002-6548-5200 Conjunctivitis, recurrent https://orcid.org/0000-0002-5316-1399 An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. HP:0000547 HP:0001127 HP:0007635 HP:0007645 HP:0007742 HP:0007816 HP:0007826 HP:0007927 HP:0008036 SNOMEDCT_US:28835009 UMLS:C0035334 Retinitis pigmentosa Rod cone dystrophy human_phenotype HP:0000510 Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. Rod-cone dystrophy HP:0000510 An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. PMID:20212494 https://orcid.org/0000-0002-0736-9199 A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. SNOMEDCT_US:246773002 UMLS:C0339652 UMLS:C1843369 VSGP Vertical gaze palsy human_phenotype HP:0000511 Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze. Vertical supranuclear gaze palsy HP:0000511 A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. PMID:20671861 https://orcid.org/0000-0002-0736-9199 VSGP Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. HP:0003285 SNOMEDCT_US:274524001 UMLS:C0476397 Abnormal ERG Abnormal electroretinography ERG abnormal human_phenotype HP:0000512 The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. Abnormal electroretinogram HP:0000512 Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. https://orcid.org/0000-0002-0736-9199 true HP:0000513 An abnormally slow velocity of the saccadic eye movements. SNOMEDCT_US:404686001 UMLS:C1321329 Slow eye movements Slow saccades Slow visual tracking human_phenotype HP:0000514 Saccades are rapid eye movements that align the fovea with the target. Slow saccadic eye movements HP:0000514 An abnormally slow velocity of the saccadic eye movements. https://orcid.org/0000-0002-0736-9199 Slow eye movements https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Slow visual tracking https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 true HP:0000515 true HP:0000516 An abnormality of the lens. SNOMEDCT_US:10810001 UMLS:C0023308 UMLS:C0549651 Abnormality of the lens Lens issue human_phenotype Lens disease HP:0000517 Abnormal lens morphology HP:0000517 An abnormality of the lens. https://orcid.org/0000-0002-0736-9199 Abnormality of the lens Lens issue Lens disease A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. HP:0001113 HP:0007825 HP:0010700 Fyler:4865 SNOMEDCT_US:128306009 SNOMEDCT_US:193570009 SNOMEDCT_US:247053007 UMLS:C0086543 UMLS:C1510497 Cataracts Clouding of the lens of the eye Cloudy lens Lens opacities Lens opacity human_phenotype HP:0000518 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). Cataract HP:0000518 A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. https://orcid.org/0000-0002-0736-9199 Clouding of the lens of the eye https://orcid.org/0000-0002-6548-5200 Cloudy lens https://orcid.org/0000-0001-6908-9849 A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. HP:0001108 HP:0007679 HP:0007692 HP:0007726 HP:0007788 SNOMEDCT_US:609587005 SNOMEDCT_US:79410001 UMLS:C0009691 UMLS:C3277059 Bilateral congenital cataracts Cataract, congenital Clouding of the lens of the eye at birth Congenital cataract Congenital cataracts Congenital cataracts, bilateral human_phenotype HP:0000519 In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. Developmental cataract HP:0000519 A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. https://orcid.org/0000-0002-0736-9199 Clouding of the lens of the eye at birth https://orcid.org/0000-0002-6548-5200 An eye that is protruding anterior to the plane of the face to a greater extent than is typical. HP:0000536 HP:0000644 HP:0000645 HP:0007711 HP:0007870 SNOMEDCT_US:18265008 UMLS:C0015300 UMLS:C1837760 UMLS:C1848490 UMLS:C1862425 Anterior bulging of the globe Anterior bulging of the globe of eye Bulging eye Exophthalmos Eyeballs bulging out Ocular proptosis Prominent eyes Prominent globes Protruding eyes Protrusio bulbi human_phenotype HP:0000520 Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. Proptosis HP:0000520 An eye that is protruding anterior to the plane of the face to a greater extent than is typical. PMID:19125427 https://orcid.org/0009-0006-4530-3154 Bulging eye https://orcid.org/0000-0001-5889-4463 Eyeballs bulging out https://orcid.org/0000-0001-5889-4463 Prominent eyes Prominent globes Protruding eyes true HP:0000521 Absence of tear secretion. SNOMEDCT_US:253215004 UMLS:C0344505 Absence of tears in the eyes Absent lacrimal fluids Absent tear secretion human_phenotype HP:0000522 Alacrima is generally a congenital deficiency. Alacrima HP:0000522 Absence of tear secretion. https://orcid.org/0000-0002-0736-9199 Absence of tears in the eyes https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Absent lacrimal fluids https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Absent tear secretion https://orcid.org/0000-0001-5208-3432 A cataract that affects the region of the lens directly beneath the capsule of the lens. HP:0001490 HP:0007978 SNOMEDCT_US:95723009 UMLS:C0235259 Subcapsular cataracts Subcapsular lenticular cataracts Subcapsular opacities human_phenotype HP:0000523 Subcapsular cataract HP:0000523 A cataract that affects the region of the lens directly beneath the capsule of the lens. https://orcid.org/0000-0002-0736-9199 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. SNOMEDCT_US:231870008 UMLS:C0239105 Conjunctival telangiectases Small dilated blood vessels near membrane covering front of eye and eyelids Telangiectasia, conjunctival human_phenotype HP:0000524 Conjunctival telangiectasia HP:0000524 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. https://orcid.org/0000-0002-0736-9199 Small dilated blood vessels near membrane covering front of eye and eyelids https://orcid.org/0000-0002-6548-5200 An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. UMLS:C4025845 Abnormality of the iris human_phenotype HP:0000525 Abnormality iris morphology HP:0000525 An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. https://orcid.org/0000-0002-0736-9199 Abnormality of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. HP:0011498 SNOMEDCT_US:69278003 UMLS:C0003076 Absent iris human_phenotype HP:0000526 Aniridia HP:0000526 Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. PMID:24138039 PMID:25313118 PMID:29850208 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Absent iris https://orcid.org/0000-0001-5208-3432 Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). HP:0000500 UMLS:C1853738 Ciliary trichomegaly Eyelash trichomegaly Increased length of eyelashes Long eyelashes Unusually long eyelashes human_phenotype HP:0000527 Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. Long eyelashes HP:0000527 Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). PMID:19125427 PMID:26288407 Increased length of eyelashes https://orcid.org/0000-0001-5889-4463 Long eyelashes Unusually long eyelashes Absence of the globe or eyeball. HP:0001485 HP:0007664 Fyler:4864 SNOMEDCT_US:204099004 SNOMEDCT_US:7183006 UMLS:C0003119 Absence of eyeballs Absence of globes of eyes Anophthalmia, clinical Clinical anophthalmia, unilateral/bilateral Failure of development of eyeball Missing eyeball Missing globe of eye No eyeball No globe of eye Ocular absence human_phenotype HP:0000528 Anophthalmia HP:0000528 Absence of the globe or eyeball. HPO_CONTRIBUTOR:DDD_ncarter Absence of eyeballs https://orcid.org/0000-0001-5889-4463 Absence of globes of eyes https://orcid.org/0000-0001-5889-4463 Failure of development of eyeball https://orcid.org/0000-0001-5889-4463 Missing eyeball https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Missing globe of eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 No eyeball https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 No globe of eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Ocular absence https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 A reduction of previously attained ability to see. HP:0000560 HP:0007735 HP:0007753 HP:0007967 UMLS:C1839364 UMLS:C3277697 Loss of visual acuity Progressive loss of vision Progressive vision loss Progressive visual acuity loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive human_phenotype Decreased visual acuity, progressive HP:0000529 Progressive visual loss HP:0000529 A reduction of previously attained ability to see. https://orcid.org/0000-0002-0736-9199 Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive https://orcid.org/0000-0002-5316-1399 Visual loss, progressive Decreased visual acuity, progressive https://orcid.org/0000-0002-5316-1399 true HP:0000530 UMLS:C1096610 Corneal deposits human_phenotype HP:0000531 Corneal crystals HP:0000531 An abnormality of the choroid and retina. HP:0001145 HP:0007888 UMLS:C4025844 Chorioretinal abnormality human_phenotype HP:0000532 The choroid is the vascular layer of the eye, located between the retina and the sclera. Abnormal chorioretinal morphology HP:0000532 An abnormality of the choroid and retina. https://orcid.org/0000-0002-0736-9199 Atrophy (wasting) of the choroid and retinal layers of the fundus. HP:0001150 HP:0007884 HP:0007912 HP:0007918 HP:0007931 HP:0007945 HP:0200065 SNOMEDCT_US:95686007 UMLS:C4048273 Chorioretinal degeneration Chorioretinal thinning human_phenotype HP:0000533 Chorioretinal atrophy HP:0000533 Atrophy (wasting) of the choroid and retinal layers of the fundus. PMID:20224472 https://orcid.org/0000-0002-0736-9199 An abnormality of the eyebrow. UMLS:C4011556 Abnormality of the eyebrow human_phenotype HP:0000534 Abnormal eyebrow morphology HP:0000534 An abnormality of the eyebrow. https://orcid.org/0000-0002-0736-9199 Abnormality of the eyebrow HP:0045074 HP:0045075 human_phenotype HP:0000535 obsolete Sparse and thin eyebrow true HP:0000535 true HP:0000536 A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. SNOMEDCT_US:400956000 UMLS:C1303003 human_phenotype HP:0000537 Epicanthus inversus HP:0000537 A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. PMID:19125427 Apparent optic disc swelling in the absence of increased intracranial pressure. SNOMEDCT_US:57138009 UMLS:C0155300 human_phenotype HP:0000538 Papilledema is disk edema secondary to increased intracranial pressure. Pseudopapilledema HP:0000538 Apparent optic disc swelling in the absence of increased intracranial pressure. https://orcid.org/0000-0002-0736-9199 An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. UMLS:C4025843 human_phenotype HP:0000539 Abnormality of refraction HP:0000539 An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. https://orcid.org/0000-0002-0736-9199 An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. SNOMEDCT_US:38101003 UMLS:C0020490 Farsightedness Hyperopia Long-sightedness human_phenotype HP:0000540 The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). Hypermetropia HP:0000540 An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. https://orcid.org/0000-0002-0736-9199 Farsightedness Long-sightedness Separation of the inner layers of the retina (neural retina) from the pigment epithelium. HP:0007864 HP:0008021 SNOMEDCT_US:42059000 UMLS:C0035305 Detached retina Retinal detachment human_phenotype HP:0000541 Retinal detachment HP:0000541 Separation of the inner layers of the retina (neural retina) from the pigment epithelium. https://orcid.org/0000-0002-0736-9199 Detached retina Retinal detachment Reduced ability to move the eye in the direction of the nose. UMLS:C1846463 human_phenotype HP:0000542 Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). Impaired ocular adduction HP:0000542 Reduced ability to move the eye in the direction of the nose. https://orcid.org/0000-0002-0736-9199 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. HP:0001148 HP:0001484 SNOMEDCT_US:302200001 UMLS:C0554970 Pale optic disc human_phenotype Disc pallor Pale optic discs HP:0000543 Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. Optic disc pallor HP:0000543 A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. https://orcid.org/0000-0002-0736-9199 Disc pallor https://orcid.org/0000-0002-5316-1399 Pale optic discs https://orcid.org/0000-0002-5316-1399 Paralysis of the external ocular muscles. HP:0007762 SNOMEDCT_US:19373007 SNOMEDCT_US:46252003 UMLS:C0162292 UMLS:C0162674 CPEO Chronic progressive external ophthalmoplegia Ophthalmoplegia externa Paralysis or weakness of muscles within or surrounding outer part of eye Progressive paralysis or weakness of muscles of eye motility Progressive paralysis or weakness of muscles of eye movement human_phenotype HP:0000544 External ophthalmoplegia HP:0000544 Paralysis of the external ocular muscles. https://orcid.org/0000-0002-0736-9199 CPEO https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0002-5316-1399 Chronic progressive external ophthalmoplegia https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Paralysis or weakness of muscles within or surrounding outer part of eye https://orcid.org/0000-0002-6548-5200 Progressive paralysis or weakness of muscles of eye motility https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Progressive paralysis or weakness of muscles of eye movement https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. HP:0001110 HP:0007847 HP:0008012 SNOMEDCT_US:57190000 UMLS:C0027092 Close sighted Near sighted Near sightedness Nearsightedness human_phenotype HP:0000545 Myopia HP:0000545 An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. https://orcid.org/0000-0002-0736-9199 Close sighted https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Near sighted https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Near sightedness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Nearsightedness A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. HP:0007632 HP:0007790 HP:0007863 HP:0007893 HP:0008035 HP:0008506 SNOMEDCT_US:95695004 UMLS:C0035304 Retina degeneration human_phenotype HP:0000546 Retinal degeneration HP:0000546 A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. PMID:29493934 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Retina degeneration https://orcid.org/0000-0001-5208-3432 HP:0000510 Retinotapetal degeneration human_phenotype HP:0000547 obsolete Tapetoretinal degeneration true HP:0000547 HP:0008157 Cone rod dystrophy Cone-rod retinal dystrophy human_phenotype HP:0000548 Cone/cone-rod dystrophy HP:0000548 Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. UMLS:C1845274 Disconjugate eye movements human_phenotype HP:0000549 Abnormal conjugate eye movement HP:0000549 Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. https://orcid.org/0000-0002-0736-9199 Lack of any response to stimulation upon electroretinography. HP:0008042 UMLS:C1855685 Abolished electroretinogram Absent electroretinogram Extinction of electroretinogram Extinguished electroretinogram No light-evoked response on electroretinogram Undetectable ERG human_phenotype HP:0000550 Undetectable electroretinogram HP:0000550 Lack of any response to stimulation upon electroretinography. https://orcid.org/0000-0002-0736-9199 An anomaly in the ability to discriminate between or recognize colors. SNOMEDCT_US:23289000 SNOMEDCT_US:367469000 UMLS:C0009398 UMLS:C0234629 UMLS:C3552853 Abnormal color vision Abnormal colour vision Abnormality of color vision Abnormality of colour vision Colour vision defect Disturbed color vision Disturbed colour vision human_phenotype Color vision defect, severe Color vision defects Colour vision defect, severe Colour vision defects Loss in color vision Loss in colour vision HP:0000551 Color vision defect HP:0000551 An anomaly in the ability to discriminate between or recognize colors. https://orcid.org/0000-0002-0736-9199 Abnormal color vision Abnormal colour vision Abnormality of color vision Abnormality of colour vision Colour vision defect Disturbed colour vision Color vision defect, severe https://orcid.org/0000-0002-5316-1399 Color vision defects https://orcid.org/0000-0002-5316-1399 Colour vision defect, severe Colour vision defects Loss in colour vision Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. SNOMEDCT_US:51886007 SNOMEDCT_US:85049009 UMLS:C0155017 UMLS:C1970167 Blue yellow color blindness Blue yellow colour blindness Blue-yellow dyschromatopsia Dyschromatopsia, blue-yellow human_phenotype Blue/yellow color vision defect Blue/yellow colour vision defect HP:0000552 Tritanomaly HP:0000552 Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. https://orcid.org/0000-0002-0736-9199 Blue yellow color blindness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Blue yellow colour blindness Blue/yellow color vision defect https://orcid.org/0000-0002-5316-1399 Blue/yellow colour vision defect An abnormality of the uvea, the vascular layer of the eyeball. UMLS:C4025842 Abnormality of the uvea human_phenotype HP:0000553 Abnormal uvea morphology HP:0000553 An abnormality of the uvea, the vascular layer of the eyeball. https://orcid.org/0000-0002-0736-9199 Inflammation of one or all portions of the uveal tract. SNOMEDCT_US:128473001 UMLS:C0042164 human_phenotype HP:0000554 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. Uveitis HP:0000554 Inflammation of one or all portions of the uveal tract. https://orcid.org/0000-0002-0736-9199 An abnormal white reflection from the pupil rather than the usual black reflection. SNOMEDCT_US:1361009 UMLS:C0152458 Leukokoria White pupillary reflex human_phenotype HP:0000555 The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). Leukocoria HP:0000555 An abnormal white reflection from the pupil rather than the usual black reflection. https://orcid.org/0000-0002-0736-9199 Leukokoria https://orcid.org/0000-0001-6908-9849 White pupillary reflex https://orcid.org/0000-0001-6908-9849 Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. HP:0007736 HP:0007910 HP:0007974 HP:0007982 HP:0030635 SNOMEDCT_US:314407005 UMLS:C0854723 Breakdown of light-sensitive cells in back of eye human_phenotype HP:0000556 Retinal dystrophy HP:0000556 Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. https://orcid.org/0000-0003-0986-4123 Breakdown of light-sensitive cells in back of eye https://orcid.org/0000-0002-6548-5200 Diffusely large eye (with megalocornea) associated with glaucoma. UMLS:C4551507 Enlarged eyeball human_phenotype HP:0000557 Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched. Buphthalmos HP:0000557 Enlarged eyeball https://en.wikipedia.org/wiki/buphthalmos https://orcid.org/0000-0001-5208-3432 A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. SNOMEDCT_US:47507006 UMLS:C0265341 human_phenotype HP:0000558 Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. Rieger anomaly HP:0000558 A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:95726001 UMLS:C0349702 human_phenotype HP:0000559 Corneal scarring HP:0000559 true HP:0000560 Lack of eyelashes. HP:0002288 HP:0004516 HP:0004539 HP:0007926 UMLS:C1843005 UMLS:C4280626 UMLS:C4280627 Absent eyelashes Atrichia of eyelashes Failure of development of eyelashes Agenesis of eyelashes Aplasia of eyelashes human_phenotype HP:0000561 Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. Absent eyelashes HP:0000561 Lack of eyelashes. PMID:19125427 https://orcid.org/0000-0002-0736-9199 Absent eyelashes Failure of development of eyelashes https://orcid.org/0000-0001-5889-4463 Agenesis of eyelashes https://orcid.org/0000-0001-5889-4463 Aplasia of eyelashes https://orcid.org/0000-0001-5889-4463 true HP:0000562 A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. SNOMEDCT_US:65636009 UMLS:C0022578 Bulging cornea Conical cornea human_phenotype HP:0000563 Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge. Keratoconus HP:0000563 A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. PMID:7767020 https://orcid.org/0000-0002-0736-9199 Bulging cornea https://orcid.org/0000-0001-5208-3432 Conical cornea https://orcid.org/0000-0001-5208-3432 A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. HP:0007729 SNOMEDCT_US:278530008 UMLS:C0344511 Imperforate nasolacrimal ducts Nasolacrimal duct atresia Unopened tear duct human_phenotype HP:0000564 Lacrimal duct atresia HP:0000564 A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. https://orcid.org/0000-0002-0736-9199 Unopened tear duct https://orcid.org/0000-0001-6908-9849 A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. SNOMEDCT_US:16596007 UMLS:C0014877 Inward turning cross eyed human_phenotype HP:0000565 Esotropia is analogous to but more severe than esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria. Esotropia HP:0000565 A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. https://orcid.org/0000-0002-0736-9199 Inward turning cross eyed https://orcid.org/0000-0001-5208-3432 true HP:0000566 Absence of a region of the retina, retinal pigment epithelium, and choroid. HP:0000611 HP:0007718 HP:0007784 HP:0007956 SNOMEDCT_US:39302008 UMLS:C0240896 Birth defect that causes a hole in the innermost layer at the back of the eye Choroidoretinal coloboma human_phenotype Choroid coloboma Choroidal coloboma Coloboma of choroid HP:0000567 Chorioretinal coloboma HP:0000567 Absence of a region of the retina, retinal pigment epithelium, and choroid. https://orcid.org/0000-0002-0736-9199 Birth defect that causes a hole in the innermost layer at the back of the eye https://orcid.org/0000-0002-6548-5200 A developmental anomaly characterized by abnormal smallness of one or both eyes. HP:0007996 Decreased size of eyeball Decreased size of globe of eye Fyler:4877 SNOMEDCT_US:204108000 SNOMEDCT_US:61142002 UMLS:C0026010 UMLS:C4280625 UMLS:C4280808 Abnormally small eyeball Abnormally small globe of eye Microphthalmos human_phenotype Nanophthalmos HP:0000568 Microphthalmia HP:0000568 A developmental anomaly characterized by abnormal smallness of one or both eyes. https://orcid.org/0000-0002-0736-9199 Decreased size of eyeball https://orcid.org/0000-0001-5889-4463 Decreased size of globe of eye https://orcid.org/0000-0001-5889-4463 Abnormally small eyeball https://orcid.org/0000-0001-5889-4463 Abnormally small globe of eye https://orcid.org/0000-0001-5889-4463 true HP:0000569 An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. HP:0000604 UMLS:C1842584 UMLS:C4025841 Abnormality of saccadic eye movements human_phenotype Impaired saccades HP:0000570 Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. Abnormal saccadic eye movements HP:0000570 An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. https://orcid.org/0000-0002-0736-9199 Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. SNOMEDCT_US:246768008 UMLS:C0423082 human_phenotype HP:0000571 Hypometric saccades HP:0000571 Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. PMID:572501 https://orcid.org/0000-0002-0736-9199 Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). SNOMEDCT_US:7973008 UMLS:C3665386 Loss of vision Vision loss Visual loss human_phenotype HP:0000572 Visual loss HP:0000572 Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). https://orcid.org/0009-0006-4530-3154 Loss of vision Vision loss https://orcid.org/0000-0002-5316-1399 Visual loss Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. SNOMEDCT_US:28998008 UMLS:C0035317 Retinal bleeding Retinal haemorrhage Retinal haemorrhages Retinal hemorrhages human_phenotype HP:0000573 The type of retinal hemorrhage and its clinical appearance depends on its location within the retina. Retinal hemorrhage HP:0000573 Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. HPO_CONTRIBUTOR:gcarletti Retinal bleeding Retinal haemorrhage Retinal haemorrhages Retinal hemorrhages https://orcid.org/0000-0002-0736-9199 Increased density/number and/or increased diameter of eyebrow hairs. HP:0004546 UMLS:C1853487 Bushy eyebrows Dense eyebrow Heavy eyebrows Hypertrichosis of the eyebrow Prominent eyebrows Thick eyebrow Thick eyebrows human_phenotype Hypertrichosis of the eyebrows HP:0000574 Thickness can be regional (medial, middle/central, lateral) or total. Thick eyebrow HP:0000574 Increased density/number and/or increased diameter of eyebrow hairs. PMID:19125427 Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrow Thick eyebrows https://orcid.org/0000-0002-5316-1399 Hypertrichosis of the eyebrows https://orcid.org/0000-0002-5316-1399 A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. Blind spot SNOMEDCT_US:23388006 SNOMEDCT_US:81016008 UMLS:C0036454 UMLS:C0344233 human_phenotype HP:0000575 Scotoma HP:0000575 A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. https://orcid.org/0000-0002-0736-9199 Blind spot https://orcid.org/0000-0001-5208-3432 A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. SNOMEDCT_US:33014001 UMLS:C0271196 human_phenotype HP:0000576 Centrocecal scotoma HP:0000576 A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. https://orcid.org/0000-0002-0736-9199 A form of strabismus with one or both eyes deviated outward. HP:0008033 SNOMEDCT_US:399054005 SNOMEDCT_US:399252000 UMLS:C0015310 Outward facing eye ball human_phenotype HP:0000577 Exotropia HP:0000577 A form of strabismus with one or both eyes deviated outward. https://orcid.org/0000-0002-0736-9199 Outward facing eye ball https://orcid.org/0000-0001-6908-9849 true HP:0000578 Blockage of the lacrimal duct. SNOMEDCT_US:231841004 SNOMEDCT_US:246865000 SNOMEDCT_US:314022009 SNOMEDCT_US:416920000 UMLS:C0022906 UMLS:C1281931 Blocked tear duct Lacrimal duct obstruction human_phenotype HP:0000579 Nasolacrimal duct obstruction HP:0000579 Blockage of the lacrimal duct. https://orcid.org/0000-0002-0736-9199 Blocked tear duct https://orcid.org/0000-0002-6548-5200 An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. HP:0001146 HP:0007702 HP:0007821 HP:0007852 HP:0007869 HP:0007934 HP:0007961 HP:0008010 SNOMEDCT_US:28835009 UMLS:C0035334 Pigmentary retinal deposits Retinal pigment clumping Retinal pigmentary clumping Retinal pigmentary degeneration human_phenotype HP:0000580 Pigmentary retinopathy HP:0000580 An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. https://orcid.org/0000-0003-0986-4123 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. HP:0000507 HP:0000513 UMLS:C0005744 Decreased width of palpebral fissure Narrow opening between the eyelids human_phenotype HP:0000581 When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Blepharophimosis is an acknowledged bundled term (short vertical and horizontal distance). When palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. Ptosis is the term to be used when the reduction in eyelid opening is not fixed but can be increased actively or passively. Blepharophimosis is often associated with Epicanthus inversus. Blepharophimosis HP:0000581 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. PMID:19125427 Decreased width of palpebral fissure https://orcid.org/0000-0001-5889-4463 Narrow opening between the eyelids https://orcid.org/0000-0001-5889-4463 The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. SNOMEDCT_US:246799009 UMLS:C0423109 Mongoloid slant Upslanting palpebral fissures Upward slanted palpebral fissures Upward slanting of palpebral fissures Upward slanting of the opening between the eyelids Upward slanting palpebral fissures human_phenotype Upslanted palpebral fissures HP:0000582 Upslanted palpebral fissure HP:0000582 The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. PMID:19125427 Upward slanting of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 Upslanted palpebral fissures https://orcid.org/0000-0002-5316-1399 true HP:0000583 UMLS:C1832170 human_phenotype HP:0000584 Punctate corneal epithelial erosions HP:0000584 An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. SNOMEDCT_US:35055000 UMLS:C0155120 Calcific band keratopathy human_phenotype HP:0000585 Band keratopathy HP:0000585 An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. https://orcid.org/0000-0002-0736-9199 Reduced depth of the orbits associated with prominent-appearing ocular globes. HP:0002706 UMLS:C1865244 Decreased depth of eye sockets Decreased depth of orbits Shallow eye sockets Small shallow orbits human_phenotype HP:0000586 Shallow orbits HP:0000586 Reduced depth of the orbits associated with prominent-appearing ocular globes. https://orcid.org/0000-0002-0736-9199 Decreased depth of eye sockets https://orcid.org/0000-0001-5889-4463 Decreased depth of orbits https://orcid.org/0000-0001-5889-4463 Shallow eye sockets https://orcid.org/0000-0001-5889-4463 Small shallow orbits https://orcid.org/0000-0001-5889-4463 Abnormality of the optic nerve. UMLS:C0029131 Abnormality of the optic nerve Optic nerve issue optic nerve abnormalities human_phenotype HP:0000587 The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. Abnormal optic nerve morphology HP:0000587 Abnormality of the optic nerve. https://orcid.org/0000-0002-0736-9199 Optic nerve issue A cleft of the optic nerve that extends inferiorly. HP:0007997 SNOMEDCT_US:17541006 SNOMEDCT_US:44295002 UMLS:C0155299 Coloboma of optic nerve Optic disc coloboma Optic nerve coloboma human_phenotype HP:0000588 A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. Optic disc coloboma HP:0000588 A cleft of the optic nerve that extends inferiorly. PMID:16219745 https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. HP:0007767 HP:0007995 Fyler:4311 SNOMEDCT_US:92828000 SNOMEDCT_US:93390002 UMLS:C0009363 Notched pupil Ocular coloboma Ocular colobomas human_phenotype HP:0000589 Coloboma HP:0000589 A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. https://orcid.org/0000-0002-0736-9199 Notched pupil Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. HP:0000562 SNOMEDCT_US:46252003 UMLS:C0162674 External ophthalmoplegia, progressive human_phenotype HP:0000590 Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. Progressive external ophthalmoplegia HP:0000590 Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. https://orcid.org/0000-0002-0736-9199 An abnormality of the sclera. Abnormality of the outer white part of eyeball UMLS:C4025840 Abnormality of the sclera human_phenotype HP:0000591 Abnormal sclera morphology HP:0000591 An abnormality of the sclera. https://orcid.org/0000-0002-0736-9199 Abnormality of the outer white part of eyeball https://orcid.org/0000-0001-5208-3432 An abnormal bluish coloration of the sclera. Blue outer white part of eyeball SNOMEDCT_US:204164000 UMLS:C0542514 Blue sclera Bluish sclerae Gray sclerae Grey sclerae Whites of eyes are a bluish-gray color Whites of eyes are a bluish-gray colour human_phenotype HP:0000592 Blue sclerae HP:0000592 An abnormal bluish coloration of the sclera. https://orcid.org/0000-0002-0736-9199 Blue outer white part of eyeball https://orcid.org/0000-0001-5208-3432 Grey sclerae Whites of eyes are a bluish-gray color https://orcid.org/0000-0002-6548-5200 Whites of eyes are a bluish-gray colour Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. SNOMEDCT_US:204142009 UMLS:C3152182 Abnormality of the anterior chamber Anterior chamber anomalies Ocular anterior chamber abnormality human_phenotype HP:0000593 Abnormal anterior chamber morphology HP:0000593 Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. https://orcid.org/0000-0002-0736-9199 Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. HP:0007756 SNOMEDCT_US:246986004 UMLS:C0423276 human_phenotype HP:0000594 Shallow anterior chamber HP:0000594 Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. https://orcid.org/0000-0002-0736-9199 true HP:0000595 true HP:0000596 Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. HP:0007701 HP:0008044 UMLS:C0751401 Extraocular muscle palsy Extraocular muscle paralysis Weakness of extraocular eye movement Weakness of muscles controlling eye movement human_phenotype HP:0000597 Ophthalmoparesis HP:0000597 Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. https://orcid.org/0000-0002-0736-9199 Weakness of extraocular eye movement https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Weakness of muscles controlling eye movement https://orcid.org/0000-0002-6548-5200 An abnormality of the ear. SNOMEDCT_US:275259005 UMLS:C0266589 Abnormality of the ear Ear anomaly human_phenotype HP:0000598 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. Abnormality of the ear HP:0000598 An abnormality of the ear. https://orcid.org/0000-0002-0736-9199 Abnormality of the ear An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. 2008-02-27T05:34:00Z UMLS:C4025839 Abnormality of hairline at front of head Abnormality of the frontal hairline human_phenotype HP:0000599 Abnormality of the frontal hairline HP:0000599 An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. https://orcid.org/0000-0002-0736-9199 Abnormality of hairline at front of head https://orcid.org/0000-0001-5889-4463 Abnormality of the frontal hairline An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. UMLS:C4025838 human_phenotype HP:0000600 The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. Abnormality of the pharynx HP:0000600 An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. https://orcid.org/0000-0002-0736-9199 Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). HP:0007877 SNOMEDCT_US:44593008 UMLS:C0424711 Abnormally close eyes Closely spaced eyes Decreased distance between eye sockets Decreased distance between eyes Decreased interpupillary distance Decreased orbital separation Ocular hypotelorism human_phenotype HP:0000601 Hypotelorism HP:0000601 Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). PMID:19125427 https://orcid.org/0000-0002-0736-9199 Abnormally close eyes https://orcid.org/0000-0001-5889-4463 Closely spaced eyes Decreased distance between eye sockets https://orcid.org/0000-0001-5889-4463 Decreased distance between eyes https://orcid.org/0000-0001-5889-4463 Decreased interpupillary distance https://orcid.org/0000-0001-5889-4463 Decreased orbital separation https://orcid.org/0000-0001-5889-4463 Paralysis of one or more extraocular muscles that are responsible for eye movements. SNOMEDCT_US:16110005 UMLS:C0029089 Eye muscle paralysis Paralysis of extraocular eye movement human_phenotype HP:0000602 Ophthalmoplegia HP:0000602 Paralysis of one or more extraocular muscles that are responsible for eye movements. https://orcid.org/0000-0002-0736-9199 Eye muscle paralysis https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Paralysis of extraocular eye movement https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 An area of depressed vision located at the point of fixation and that interferes with central vision. Blind spot located at fixation point SNOMEDCT_US:38950008 UMLS:C0152191 UMLS:C4280624 Central blind spot Central scotomata human_phenotype HP:0000603 Central scotoma HP:0000603 An area of depressed vision located at the point of fixation and that interferes with central vision. https://orcid.org/0000-0002-0736-9199 Blind spot located at fixation point https://orcid.org/0000-0001-5208-3432 Central blind spot https://orcid.org/0000-0002-6548-5200 true HP:0000604 A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. SNOMEDCT_US:420675003 UMLS:C1720037 Supranuclear gaze paralysis human_phenotype HP:0000605 Supranuclear gaze palsy HP:0000605 A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. https://orcid.org/0000-0002-0736-9199 An abnormality of the region situated around the orbit of the eye. UMLS:C4025837 Abnormality of the region around the eye Abnormality of the region around the eye socket Anomaly of the periorbital region Deformity of the periorbital region Malformation of the periorbital region human_phenotype HP:0000606 Abnormality of the periorbital region HP:0000606 An abnormality of the region situated around the orbit of the eye. https://orcid.org/0000-0002-0736-9199 Abnormality of the region around the eye https://orcid.org/0000-0001-5889-4463 Abnormality of the region around the eye socket https://orcid.org/0000-0001-5889-4463 Anomaly of the periorbital region https://orcid.org/0000-0001-5889-4463 Deformity of the periorbital region https://orcid.org/0000-0001-5889-4463 Malformation of the periorbital region https://orcid.org/0000-0001-5889-4463 UMLS:C1844605 Excess periorbital skin wrinkling Periorbital rhytids Periorbital wrinkling Wrinkles around the eyes human_phenotype HP:0000607 Periorbital wrinkles HP:0000607 Periorbital rhytids https://orcid.org/0000-0001-5889-4463 Wrinkles around the eyes https://orcid.org/0000-0001-5889-4463 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. HP:0007694 HP:0007868 human_phenotype HP:0000608 Macular degeneration HP:0000608 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Underdevelopment of the optic nerve. HP:0007273 SNOMEDCT_US:95499004 UMLS:C0338502 Hypoplastic optic nerves Underdeveloped optic nerves human_phenotype Double ring sign HP:0000609 Double ring sign of optic nerve head is a characteristic fundus finding in cases with optic nerve head hypoplasia. Optic nerve hypoplasia HP:0000609 Underdevelopment of the optic nerve. PMID:31238457 https://orcid.org/0000-0002-0736-9199 Underdeveloped optic nerves https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). HP:0001122 HP:0007757 HP:0025568 UMLS:C0008521 UMLS:C4025836 Abnormality of the choroid human_phenotype Choroid disease HP:0000610 The choroid is a sponge-like vascular connective tissue located between the sclera and the retina and making up the posterior part of the uvea. Abnormal choroid morphology HP:0000610 Any structural abnormality of the choroid (the posterior part of the uvea, the middle tunic of the eye, consisting mainly of blood vessels). PMID:38432349 https://orcid.org/0000-0002-0736-9199 HP:0000567 human_phenotype HP:0000611 obsolete Choroid coloboma true HP:0000611 A coloboma of the iris. HP:0007744 HP:0007748 UMLS:C0240063 Cat eye Coloboma of iris Coloboma of the iris Keyhole iris human_phenotype HP:0000612 Iris coloboma HP:0000612 A coloboma of the iris. PMID:19369671 https://orcid.org/0000-0002-0736-9199 Cat eye https://orcid.org/0000-0001-6908-9849 Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. SNOMEDCT_US:246622003 SNOMEDCT_US:409668002 UMLS:C0085636 UMLS:C4020887 Extreme sensitivity of the eyes to light Light hypersensitivity Photodysphoria human_phenotype HP:0000613 Note that the term photodysphoria is used to describe extreme photophobia. Photophobia HP:0000613 Extreme sensitivity of the eyes to light https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Light hypersensitivity https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Photodysphoria https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. UMLS:C4025835 Abnormality of the nasolacrimal system human_phenotype HP:0000614 The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. Abnormal nasolacrimal system morphology HP:0000614 An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. HPO_CONTRIBUTOR:DDD_ncarter An abnormality of the pupil. HP:0008018 HP:0030960 SNOMEDCT_US:274093008 UMLS:C0154936 Abnormal pupillary morphology Abnormality of the pupil Pupillary abnormalities Pupillary abnormality human_phenotype HP:0000615 Abnormal pupil morphology HP:0000615 An abnormality of the pupil. https://orcid.org/0000-0002-0736-9199 Abnormality of the pupil Pupillary abnormalities Pupillary abnormality Abnormal (non-physiological) constriction of the pupil. SNOMEDCT_US:63251006 UMLS:C0026205 Constricted pupils Pupillary constriction human_phenotype HP:0000616 Miosis HP:0000616 Abnormal (non-physiological) constriction of the pupil. https://orcid.org/0000-0002-0736-9199 Constricted pupils https://orcid.org/0000-0001-5889-4463 Pupillary constriction https://orcid.org/0000-0001-5889-4463 An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. HP:0007671 HP:0008006 UMLS:C1836393 Abnormal smooth pursuits Disrupted ocular pursuit movements Impaired smooth pursuit ocular movements Irregular visual pursuit movements human_phenotype HP:0000617 Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. Abnormality of ocular smooth pursuit HP:0000617 An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. https://orcid.org/0000-0002-0736-9199 Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. HP:0007839 Fyler:4866 SNOMEDCT_US:65956007 UMLS:C0271215 UMLS:C0456909 Blindness Total vision loss human_phenotype Legal blindness HP:0000618 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. Blindness HP:0000618 Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. PMID:28779882 https://orcid.org/0000-0001-8727-6592 Blindness Legal blindness Reduced ability to turn the eyes inward in order to focus on a nearby object. SNOMEDCT_US:194131002 UMLS:C0271379 Convergence insufficiency human_phenotype HP:0000619 Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. Impaired convergence HP:0000619 Reduced ability to turn the eyes inward in order to focus on a nearby object. https://orcid.org/0000-0002-0736-9199 Inflammation of the nasolacrimal sac. SNOMEDCT_US:85777005 UMLS:C0010930 Dacrocystitis Infection of the lacrimal sac human_phenotype HP:0000620 Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis. Dacryocystitis HP:0000620 Inflammation of the nasolacrimal sac. https://orcid.org/0000-0002-0736-9199 Infection of the lacrimal sac https://en.wikipedia.org/wiki/dacryocystitis https://orcid.org/0000-0001-5208-3432 An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Eyelid folded in SNOMEDCT_US:33168009 UMLS:C0014390 Eyelid turned in human_phenotype Inverted eyelid HP:0000621 The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. Entropion HP:0000621 An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. PMID:19125427 https://orcid.org/0000-0003-0986-4123 Eyelid folded in https://orcid.org/0000-0001-5889-4463 Eyelid turned in https://orcid.org/0000-0001-5889-4463 Inverted eyelid https://orcid.org/0000-0001-5889-4463 Lack of sharpness of vision resulting in the inability to see fine detail. HP:0007723 SNOMEDCT_US:111516008 SNOMEDCT_US:246636008 UMLS:C0344232 Blurred vision human_phenotype HP:0000622 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. Blurred vision HP:0000622 Lack of sharpness of vision resulting in the inability to see fine detail. https://orcid.org/0000-0002-0736-9199 Blurred vision A vertical gaze palsy with inability to direct the gaze of the eyes downwards. UMLS:C1408507 human_phenotype HP:0000623 Supranuclear ophthalmoplegia HP:0000623 A vertical gaze palsy with inability to direct the gaze of the eyes downwards. PMID:20629667 https://orcid.org/0000-0002-0736-9199 true HP:0000624 A short discontinuity of the margin of the lower or upper eyelid. SNOMEDCT_US:95202004 UMLS:C0521573 Cleft eyelid Full thickness defect of the eyelid Notched eyelid human_phenotype HP:0000625 The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. Eyelid coloboma HP:0000625 A short discontinuity of the margin of the lower or upper eyelid. PMID:19125427 Cleft eyelid Full thickness defect of the eyelid https://orcid.org/0000-0001-5889-4463 Notched eyelid true HP:0000626 A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. HP:0100740 SNOMEDCT_US:253228006 SNOMEDCT_US:392437005 UMLS:C0344531 UMLS:C0546967 Embryotoxon human_phenotype HP:0000627 Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. Posterior embryotoxon HP:0000627 A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. https://orcid.org/0000-0002-0736-9199 true HP:0000628 Increase in periorbital soft tissue. UMLS:C1858036 Periorbital puffiness Periorbital swelling Puffiness around eye Puffy eyes Swelling around the eyes Fullness around the eyes human_phenotype HP:0000629 Periorbital fullness HP:0000629 Increase in periorbital soft tissue. https://orcid.org/0009-0006-4530-3154 Puffiness around eye https://orcid.org/0000-0002-6548-5200 Fullness around the eyes https://orcid.org/0000-0001-5889-4463 Any deviation from the normal structure of the retinal artery or arterioles. UMLS:C4021802 Abnormal retinal arteriole morphology Abnormal retinal artery morphology Abnormality of retinal arteries Retinal arterial abnormality Retinal arteriolar abnormality human_phenotype HP:0000630 Abnormal retinal arterial/arteriolar morphology HP:0000630 Abnormality of retinal arteries Retinal arterial abnormality The presence of an increased number of twists and turns of the retinal artery. SNOMEDCT_US:247123003 UMLS:C0423401 Retinal artery tortuousity human_phenotype HP:0000631 Normal retinal blood vessels are straight or gently curved. In some diseases, the blood vessels become tortuous, i.e. they become dilated and take on a serpentine path. The dilation is caused by radial stretching of the blood vessel and the serpentine path occurs because of longitudinal stretching. The tortuosity may be focal, occurring only in a small region of retinal blood vessels, or it may involve the entire retinal vascular tree. Retinal arterial tortuosity HP:0000631 The presence of an increased number of twists and turns of the retinal artery. PMID:10193892 https://orcid.org/0000-0002-0736-9199 Abnormality of tear production. HP:0000521 UMLS:C4021801 Abnormality of tear production human_phenotype HP:0000632 Lacrimation abnormality HP:0000632 Abnormality of tear production. https://orcid.org/0000-0002-0736-9199 Abnormality of tear production Abnormally decreased lacrimation, that is, reduced tear production. UMLS:C0235857 Decreased tear secretion Hypolacrimia human_phenotype HP:0000633 As part of the lacrimal apparatus, the lacrimal gland participates in the maintenance of a healthy eye surface by producing the aqueous part of the tear film. Alacrimia and hypolacrimia, which are relatively rare during childhood or young adulthood, have their origin in a number of mechanisms which include agenesia, aplasia, hypoplasia, or incorrect maturation of the gland. Decreased lacrimation HP:0000633 Abnormally decreased lacrimation, that is, reduced tear production. PMID:35925585 https://orcid.org/0000-0002-0736-9199 Decreased tear secretion https://orcid.org/0000-0001-5208-3432 An impaired ability of the eye to move in the outward direction (towards the side of the head). UMLS:C1846462 human_phenotype HP:0000634 Impaired ocular abduction HP:0000634 An impaired ability of the eye to move in the outward direction (towards the side of the head). https://orcid.org/0000-0002-0736-9199 A markedly blue coloration of the iris. SNOMEDCT_US:301952009 UMLS:C0578626 Blue eyes human_phenotype HP:0000635 Blue irides HP:0000635 A markedly blue coloration of the iris. https://orcid.org/0000-0002-0736-9199 Blue eyes A short discontinuity of the margin of the upper eyelid. UMLS:C1863872 Cleft upper eyelid Coloboma of the upper eyelid Full thickness defect of the upper eyelid Notched upper eyelid Upper eyelid colobomas human_phenotype HP:0000636 Upper eyelid coloboma HP:0000636 A short discontinuity of the margin of the upper eyelid. https://orcid.org/0000-0002-0736-9199 Cleft upper eyelid https://orcid.org/0000-0001-5889-4463 Full thickness defect of the upper eyelid https://orcid.org/0000-0001-5889-4463 Notched upper eyelid https://orcid.org/0000-0001-5889-4463 Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. HP:0007904 UMLS:C1849340 Broad opening between the eyelids Broad palpebral fissure Long opening between the eyelids Long palpebral fissures Wide opening between the eyelids Wide palpebral fissure Wide palpebral fissures human_phenotype HP:0000637 Long palpebral fissure HP:0000637 Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. PMID:19125427 Broad opening between the eyelids https://orcid.org/0000-0001-5889-4463 Broad palpebral fissure https://orcid.org/0000-0001-5889-4463 Long opening between the eyelids https://orcid.org/0000-0001-5889-4463 Long palpebral fissures https://orcid.org/0000-0002-5316-1399 Wide opening between the eyelids https://orcid.org/0000-0001-5889-4463 Wide palpebral fissure https://orcid.org/0000-0002-5316-1399 true HP:0000638 Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. SNOMEDCT_US:563001 UMLS:C0028738 Involuntary, rapid, rhythmic eye movements human_phenotype HP:0000639 Nystagmus HP:0000639 Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. https://orcid.org/0000-0002-0736-9199 Involuntary, rapid, rhythmic eye movements https://orcid.org/0000-0002-6548-5200 Nystagmus made apparent by looking to the right or to the left. SNOMEDCT_US:29356006 UMLS:C0271390 human_phenotype HP:0000640 Gaze-evoked nystagmus HP:0000640 Nystagmus made apparent by looking to the right or to the left. https://orcid.org/0000-0002-0736-9199 The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. UMLS:C1836392 Dysmetric eye movements Dysmetric eye saccades Uncoordinated eye movement human_phenotype HP:0000641 Dysmetric saccades HP:0000641 The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. PMID:572501 https://orcid.org/0000-0002-0736-9199 Dysmetric eye movements https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Uncoordinated eye movement https://orcid.org/0000-0001-6908-9849 Difficulty with discriminating red and green hues. HP:0007960 SNOMEDCT_US:246674000 SNOMEDCT_US:77479002 UMLS:C0155016 UMLS:C1970168 Dyschromatopsia with red-green confusion Red green color blindness Red green colour blindness human_phenotype Red/green color vision defect Red/green colour vision defect HP:0000642 Red-green dyschromatopsia HP:0000642 Difficulty with discriminating red and green hues. https://orcid.org/0000-0001-8727-6592 Red green color blindness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Red green colour blindness Red/green color vision defect https://orcid.org/0000-0002-5316-1399 Red/green colour vision defect A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. HP:0007907 SNOMEDCT_US:59026006 UMLS:C0005747 Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid human_phenotype HP:0000643 Blepharospasm HP:0000643 A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. https://orcid.org/0000-0002-0736-9199 Eyelid spasm https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Eyelid twitching https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Involuntary closure of eyelid https://orcid.org/0000-0001-5889-4463 Spontaneous closure of eyelid https://orcid.org/0000-0001-5889-4463 true HP:0000644 true HP:0000645 Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. SNOMEDCT_US:387742006 UMLS:C0002418 Lazy eye Wandering eye Wandering eyes human_phenotype HP:0000646 Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. Amblyopia HP:0000646 Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. https://orcid.org/0000-0002-0736-9199 Lazy eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Wandering eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Wandering eyes https://orcid.org/0000-0002-5316-1399 A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. UMLS:C1853235 Hardening of skin and connective tissue human_phenotype HP:0000647 Sclerocornea HP:0000647 A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. https://orcid.org/0000-0002-0736-9199 Hardening of skin and connective tissue https://orcid.org/0000-0002-6548-5200 Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. HP:0007751 HP:0007855 SNOMEDCT_US:76976005 UMLS:C0029124 Optic nerve atrophy Optic-nerve degeneration human_phenotype HP:0000648 The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion. Optic atrophy HP:0000648 Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. https://orcid.org/0000-0002-0736-9199 An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. SNOMEDCT_US:102968003 UMLS:C0522214 Abnormal vision evoked potentials Abnormal visual evoked potential Abnormal visual evoked responses Abnormal visual-evoked potentials VEP abnormalities human_phenotype HP:0000649 The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. Abnormality of visual evoked potentials HP:0000649 An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. PMID:19826847 https://orcid.org/0000-0002-0736-9199 UMLS:C4025834 human_phenotype HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials HP:0000650 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. SNOMEDCT_US:24982008 UMLS:C0012569 Double vision human_phenotype HP:0000651 Diplopia HP:0000651 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. https://orcid.org/0000-0002-0736-9199 Double vision A short discontinuity of the margin of the lower eyelid. HP:0007909 UMLS:C1837826 Cleft lower eyelid Coloboma of lower eyelid Full thickness defect of the lower eyelid Lower lid coloboma Notched lower eyelid human_phenotype HP:0000652 Lower eyelid coloboma HP:0000652 A short discontinuity of the margin of the lower eyelid. https://orcid.org/0000-0002-0736-9199 Cleft lower eyelid https://orcid.org/0000-0001-5889-4463 Full thickness defect of the lower eyelid https://orcid.org/0000-0001-5889-4463 Notched lower eyelid https://orcid.org/0000-0001-5889-4463 Decreased density/number of eyelashes. HP:0002284 HP:0004519 HP:0004531 HP:0004555 HP:0004777 HP:0007853 UMLS:C1843300 Hypotrichosis of eyelashes Partial absence of eyelashes Scant eyelashes Scanty eyelashes Sparse eyelashes Thin eyelashes human_phenotype HP:0000653 Sparse eyelashes HP:0000653 Decreased density/number of eyelashes. PMID:19125427 Hypotrichosis of eyelashes https://orcid.org/0000-0001-5889-4463 Partial absence of eyelashes https://orcid.org/0000-0001-5889-4463 Scant eyelashes Scanty eyelashes Sparse eyelashes Thin eyelashes https://orcid.org/0000-0001-5889-4463 Decreased amplitude of eletrical response upon electroretinography. HP:0007636 HP:0007689 HP:0007845 UMLS:C1839025 Decreased ERG amplitude Decreased amplitudes on flash visual electroretinogram Decreased electroretinogram Decreased electroretinogram amplitude Decreased electroretinogram response Flattened or absent electroretinogram Reduced ERG Reduced electroretinogram Reduced or abolished electroretinogram human_phenotype HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude HP:0000654 Decreased amplitude of eletrical response upon electroretinography. https://orcid.org/0000-0002-0736-9199 HP:0007773 human_phenotype HP:0000655 obsolete Vitreoretinal degeneration true HP:0000655 An outward turning (eversion) or rotation of the eyelid margin. Eyelid folded out SNOMEDCT_US:127559009 SNOMEDCT_US:62909004 UMLS:C0013592 Eyelid turned out human_phenotype Everted eyelid HP:0000656 Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. Ectropion HP:0000656 An outward turning (eversion) or rotation of the eyelid margin. PMID:19125427 Eyelid folded out https://orcid.org/0000-0001-5889-4463 Eyelid turned out https://orcid.org/0000-0001-5889-4463 Everted eyelid https://orcid.org/0000-0001-5889-4463 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. HP:0000628 HP:0007764 SNOMEDCT_US:193662007 UMLS:C3489733 UMLS:C4020886 Ocular motor apraxia human_phenotype Defective or absent horizontal voluntary eye movements HP:0000657 Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. Oculomotor apraxia HP:0000657 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. PMID:20615230 https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:423142006 UMLS:C1142448 Difficulty opening the eyelids human_phenotype HP:0000658 Eyelid apraxia HP:0000658 Difficulty opening the eyelids https://orcid.org/0000-0001-5889-4463 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. SNOMEDCT_US:204153003 UMLS:C0344559 human_phenotype HP:0000659 Peters anomaly HP:0000659 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. https://orcid.org/0000-0002-0736-9199 A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. SNOMEDCT_US:95692001 UMLS:C0339477 human_phenotype HP:0000660 Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). Lipemia retinalis HP:0000660 A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood is extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. PMID:10379021 PMID:16120862 UMLS:C1846465 human_phenotype HP:0000661 Palpebral fissure narrowing on adduction HP:0000661 Inability to see well at night or in poor light. HP:0007653 HP:0007725 HP:0007865 HP:0007895 SNOMEDCT_US:65194006 UMLS:C0028077 UMLS:C4020885 Night blindness Night-blindness Poor night vision human_phenotype Difficulties with night vision HP:0000662 Nyctalopia HP:0000662 Inability to see well at night or in poor light. https://orcid.org/0000-0002-0736-9199 Night blindness Night-blindness Poor night vision https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Difficulties with night vision true HP:0000663 Meeting of the medial eyebrows in the midline. HP:0002210 SNOMEDCT_US:253207002 UMLS:C0431447 Monobrow Synophris Unibrow human_phenotype HP:0000664 Synophrys HP:0000664 Meeting of the medial eyebrows in the midline. PMID:19125427 Monobrow https://orcid.org/0000-0001-5889-4463 Unibrow true HP:0000665 Nystagmus consisting of horizontal to-and-fro eye movements. SNOMEDCT_US:81756001 UMLS:C0271385 Nystagmus, horizontal human_phenotype HP:0000666 Horizontal nystagmus HP:0000666 Nystagmus consisting of horizontal to-and-fro eye movements. https://orcid.org/0000-0002-0736-9199 Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. SNOMEDCT_US:4229009 UMLS:C0271007 human_phenotype HP:0000667 Phthisis bulbi refers to atrophy and degeneration of a blind eye. Phthisis bulbi HP:0000667 Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. https://orcid.org/0000-0002-0736-9199 The absence of five or less teeth from the normal series by a failure to develop. SNOMEDCT_US:64969001 UMLS:C0020608 Failure of development of between one and six teeth human_phenotype Missing between one and six teeth HP:0000668 Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. Hypodontia HP:0000668 The absence of five or less teeth from the normal series by a failure to develop. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Failure of development of between one and six teeth https://orcid.org/0000-0001-5889-4463 Missing between one and six teeth https://orcid.org/0000-0001-5889-4463 true HP:0000669 Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. HP:0006295 HP:0006306 SNOMEDCT_US:80967001 UMLS:C0011334 UMLS:C4280623 Caries Cariosity of teeth Dental caries Dental cavities Early dental caries Frequent caries Tooth cavities Tooth decay human_phenotype Dental decay Rotting teeth HP:0000670 It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. Carious teeth HP:0000670 Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. https://orcid.org/0000-0002-0736-9199 Cariosity of teeth https://orcid.org/0000-0001-5889-4463 Dental cavities https://orcid.org/0000-0001-5889-4463 Tooth cavities https://orcid.org/0000-0001-5889-4463 Tooth decay https://orcid.org/0000-0001-5889-4463 Dental decay Rotting teeth https://orcid.org/0000-0001-5889-4463 true HP:0000671 true HP:0000672 true HP:0000673 The absence of all teeth from the normal series by a failure to develop. HP:0006484 SNOMEDCT_US:16958000 SNOMEDCT_US:26624006 UMLS:C0399352 UMLS:C4280622 Anodontia vera Complete agenesis of all teeth Complete dental agenesis Failure of development of all teeth Complete anodontia Total anodontia human_phenotype Missing all teeth Total absence of all teeth HP:0000674 Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. Anodontia HP:0000674 The absence of all teeth from the normal series by a failure to develop. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Anodontia vera https://orcid.org/0000-0001-5889-4463 Complete agenesis of all teeth https://orcid.org/0000-0001-5889-4463 Failure of development of all teeth https://orcid.org/0000-0001-5889-4463 Complete anodontia https://orcid.org/0000-0001-5889-4463 Total anodontia https://orcid.org/0000-0001-5889-4463 Missing all teeth https://orcid.org/0000-0001-5889-4463 Total absence of all teeth https://orcid.org/0000-0001-5889-4463 Increased size of the maxillary central secondary incisor tooth. Hyperplasia of permanent maxillary central incisor Hypertrophy of permanent maxillary central incisor Increased size of permanent maxillary central incisor Increased size of permanent upper central incisor Large permanent maxillary central incisor Large permanent upper central incisor UMLS:C1835095 UMLS:C4280263 UMLS:C4280620 UMLS:C4280621 Increased width of permanent maxillary central incisor Increased width of permanent upper central incisor Long maxillary central incisors Prominent upper incisors Prominent, protruding upper incisors human_phenotype HP:0000675 Macrodontia of permanent maxillary central incisor HP:0000675 Increased size of the maxillary central secondary incisor tooth. https://orcid.org/0000-0002-9338-3017 Hyperplasia of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Hypertrophy of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Increased size of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Increased size of permanent upper central incisor https://orcid.org/0000-0001-5889-4463 Large permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Large permanent upper central incisor https://orcid.org/0000-0001-5889-4463 Increased width of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Increased width of permanent upper central incisor https://orcid.org/0000-0001-5889-4463 An abnormality of the Incisor tooth. HP:0006340 UMLS:C4025833 human_phenotype HP:0000676 Abnormality of the incisor HP:0000676 An abnormality of the Incisor tooth. https://orcid.org/0000-0002-0736-9199 The absence of six or more teeth from the normal series by a failure to develop. HP:0000702 UMLS:C4082304 UMLS:C4280619 Failure of development of more than six teeth Partial anodontia human_phenotype Missing more than six teeth Number of teeth decreased by more than six HP:0000677 The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. Oligodontia HP:0000677 The absence of six or more teeth from the normal series by a failure to develop. PMID:19125428 PMID:31468724 Failure of development of more than six teeth https://orcid.org/0000-0001-5889-4463 Missing more than six teeth https://orcid.org/0000-0001-5889-4463 Number of teeth decreased by more than six https://orcid.org/0000-0001-5889-4463 Changes in alignment of teeth in the dental arch Inadequate arch length for tooth size Tooth mass arch size discrepancy Tooth size discrepancy SNOMEDCT_US:12351004 SNOMEDCT_US:699222000 UMLS:C0040433 UMLS:C1317785 UMLS:C4280617 UMLS:C4280618 Crowded teeth Dental crowding Dental overcrowding Overcrowding of teeth human_phenotype HP:0000678 Overlapping teeth within an alveolar ridge. Dental crowding HP:0000678 Changes in alignment of teeth in the dental arch PMID:19125428 PMID:31468724 Inadequate arch length for tooth size https://orcid.org/0000-0001-5889-4463 Tooth mass arch size discrepancy https://orcid.org/0000-0001-5889-4463 Tooth size discrepancy https://orcid.org/0000-0001-5889-4463 Crowded teeth Dental crowding Dental overcrowding Overcrowding of teeth https://orcid.org/0000-0001-5889-4463 Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. SNOMEDCT_US:51744007 UMLS:C0266039 UMLS:C4280616 Taurodont Taurodontism human_phenotype Large elongated pulp chamber HP:0000679 Taurodontia causes a molar shape that is visible on radiographs. Taurodontic teeth display proportionately short roots and enlarged pulp chambers. Body of the tooth and pulp chamber is enlarged. Taurodontia HP:0000679 Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Taurodont https://orcid.org/0000-0001-5889-4463 Large elongated pulp chamber https://orcid.org/0000-0001-5889-4463 Delayed tooth eruption affecting the primary dentition. UMLS:C1849538 Delayed eruption of baby teeth Delayed eruption of deciduous teeth Delayed eruption of milk teeth Delayed primary teeth eruption Late eruption of baby teeth Late eruption of milk teeth Late eruption of primary teeth human_phenotype HP:0000680 Delayed eruption of primary teeth HP:0000680 Delayed tooth eruption affecting the primary dentition. https://orcid.org/0000-0002-9338-3017 Delayed eruption of baby teeth https://orcid.org/0000-0001-5889-4463 Delayed eruption of milk teeth https://orcid.org/0000-0001-5889-4463 Late eruption of baby teeth https://orcid.org/0000-0001-5889-4463 Late eruption of milk teeth https://orcid.org/0000-0001-5889-4463 Late eruption of primary teeth https://orcid.org/0000-0001-5889-4463 true HP:0000681 An abnormality of the dental enamel. HP:0006322 UMLS:C4021800 UMLS:C4280262 UMLS:C4280615 Abnormal tooth enamel Abnormality of dental enamel Enamel abnormalities Enamel abnormality Defective tooth enamel Dystrophic tooth enamel Malformation of dental enamel Malformation of tooth enamel human_phenotype HP:0000682 The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. Abnormal dental enamel morphology HP:0000682 An abnormality of the dental enamel. https://orcid.org/0000-0002-0736-9199 Abnormal tooth enamel Enamel abnormalities Enamel abnormality Defective tooth enamel https://orcid.org/0000-0001-5889-4463 Dystrophic tooth enamel https://orcid.org/0000-0001-5889-4463 Malformation of dental enamel https://orcid.org/0000-0001-5889-4463 Malformation of tooth enamel https://orcid.org/0000-0001-5889-4463 A gray discoloration of the dental enamel. UMLS:C1854783 Gray colored tooth enamel Gray tooth shade Grayish enamel Grey coloured tooth enamel Grey tooth shade Greyish enamel human_phenotype HP:0000683 Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. Grayish enamel HP:0000683 A gray discoloration of the dental enamel. https://orcid.org/0000-0002-9338-3017 Gray colored tooth enamel https://orcid.org/0000-0001-5889-4463 Gray tooth shade https://orcid.org/0000-0001-5889-4463 Grayish enamel Grey coloured tooth enamel Grey tooth shade Greyish enamel Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. HP:0000686 HP:0006294 HP:0006314 HP:0006328 SNOMEDCT_US:5639000 UMLS:C0239174 Delayed dental development Delayed dental eruption Delayed eruption Delayed eruption of teeth Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption human_phenotype HP:0000684 This term should not be used in a patient with Gingival overgrowth. Eruption is defined by the appearance of a tooth that has pierced the oral mucosa. There are established norms for the timing of eruption in both deciduous and permanent teeth. Eruption delay may affect either the deciduous teeth, permanent teeth, or both. The absence of shedding of deciduous teeth may be seen in association with delayed permanent tooth eruption or agenesis of successional permanent teeth. The diagnosis eruption delayed requires clinical and radiographic examinations. Delayed eruption of teeth HP:0000684 Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. PMID:19125428 PMID:31468724 https://orcid.org/0000-0002-9338-3017 Delayed eruption Delayed eruption of teeth Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption Developmental hypoplasia of teeth. HP:0000688 HP:0006281 HP:0006307 Decreased size of teeth Underdevelopment of teeth UMLS:C0235357 UMLS:C4280611 Hypoplastic teeth human_phenotype HP:0000685 Hypoplasia of teeth HP:0000685 Developmental hypoplasia of teeth. https://orcid.org/0000-0002-9338-3017 Decreased size of teeth https://orcid.org/0000-0001-5889-4463 Underdevelopment of teeth https://orcid.org/0000-0001-5889-4463 true HP:0000686 Increased spaces (diastemata) between most of the teeth in the same dental arch. UMLS:C1844813 Generalised dental spacing Generalised spacing of teeth Generalized dental spacing Generalized spacing of teeth Multiple diastemata Wide-spaced teeth Widely spaced teeth Widely-spaced teeth human_phenotype HP:0000687 Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. Widely spaced teeth HP:0000687 Increased spaces (diastemata) between most of the teeth in the same dental arch. PMID:19125428 Generalised dental spacing Generalised spacing of teeth Generalized dental spacing https://orcid.org/0000-0001-5889-4463 Generalized spacing of teeth https://orcid.org/0000-0001-5889-4463 Wide-spaced teeth Widely spaced teeth Widely-spaced teeth true HP:0000688 Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. SNOMEDCT_US:47944004 SNOMEDCT_US:707598004 UMLS:C0024636 UMLS:C4280613 UMLS:C4280614 Bad bite Bilateral crossbite Bilateral crossbite malocclusion Incorrect relation between upper and lower dental arches Malalignment of upper and lower dental arches Malocclusion Malocclusion of teeth Misalignment of upper and lower dental arches Occlusion anomaly Angle class 2 malocclusion Angle class 3 malocclusion human_phenotype HP:0000689 Dental malocclusion HP:0000689 Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. PMID:31468724 Bad bite https://orcid.org/0000-0001-5889-4463 Bilateral crossbite https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Bilateral crossbite malocclusion https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Incorrect relation between upper and lower dental arches https://orcid.org/0000-0001-5889-4463 Malalignment of upper and lower dental arches https://orcid.org/0000-0001-5889-4463 Malocclusion of teeth https://orcid.org/0000-0001-5889-4463 Misalignment of upper and lower dental arches https://orcid.org/0000-0001-5889-4463 Angle class 2 malocclusion https://orcid.org/0000-0001-5889-4463 Angle class 3 malocclusion https://orcid.org/0000-0001-5889-4463 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. UMLS:C1849950 UMLS:C4083046 Absent upper lateral incisors Failure of development of maxillary lateral incisor human_phenotype Absence of maxillary lateral incisor Absence of upper lateral incisor Missing maxillary lateral incisor Missing upper lateral incisor HP:0000690 Agenesis of maxillary lateral incisor HP:0000690 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. https://orcid.org/0000-0002-9338-3017 Failure of development of maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of upper lateral incisor https://orcid.org/0000-0001-5889-4463 Missing maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Missing upper lateral incisor https://orcid.org/0000-0001-5889-4463 Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Hypotrophic tooth SNOMEDCT_US:32337007 UMLS:C0240340 UMLS:C4280611 UMLS:C4280612 Decreased size of tooth Decreased width of tooth Small teeth Small tooth Tooth hypoplasia Tooth hypotrophy Underdeveloped tooth human_phenotype HP:0000691 Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. Microdontia HP:0000691 Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. PMID:19125428 https://orcid.org/0000-0002-9338-3017 Hypotrophic tooth https://orcid.org/0000-0001-5889-4463 Decreased size of tooth https://orcid.org/0000-0001-5889-4463 Decreased width of tooth https://orcid.org/0000-0001-5889-4463 Small tooth https://orcid.org/0000-0001-5889-4463 Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. HP:0000693 HP:0001569 HP:0006303 HP:0006478 Abnormality of position of teeth UMLS:C1852504 UMLS:C4280610 Abnormal dental position Abnormal teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth Misalignment of teeth Teeth, malposition human_phenotype HP:0000692 Tooth malposition HP:0000692 Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. https://orcid.org/0000-0002-9338-3017 Abnormality of position of teeth https://orcid.org/0000-0001-5889-4463 Abnormal dental position Abnormal teeth spacing Abnormality of alignment of teeth https://orcid.org/0000-0001-5889-4463 Abnormality of teeth spacing Crooked teeth https://orcid.org/0000-0001-5889-4463 Malaligned teeth Malposition of teeth Malpositioned teeth Misalignment of teeth true HP:0000693 The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. SNOMEDCT_US:67504007 UMLS:C2981132 Ghost teeth Shell teeth Teeth with dentinal dysplasia Teeth with thin dentin and large pulp chambers Teeth with type iii dentinogenesis imperfecta human_phenotype HP:0000694 Odontodysplasia HP:0000694 The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. https://orcid.org/0000-0002-9338-3017 Teeth with dentinal dysplasia https://orcid.org/0000-0001-5889-4463 Teeth with thin dentin and large pulp chambers https://orcid.org/0000-0001-5889-4463 Teeth with type iii dentinogenesis imperfecta https://orcid.org/0000-0001-5889-4463 A tooth present at birth or erupting within the first month of life. SNOMEDCT_US:21995002 SNOMEDCT_US:58748004 UMLS:C0027443 Born with teeth Natal teeth Neonatal teeth Teeth present at birth human_phenotype HP:0000695 A tooth erupting between the second and fourth month is called a neonatal tooth. A natal tooth is uncommon, the prevalence at birth is 1/2000 to 1/3500 birth. In 85%, the erupted tooth is the deciduous lower incisors, and in 5%, it concerns upper incisors or molars, and in 10%, it involves supernumerary teeth. Natal teeth are usually mobile and lack root formation. Natal tooth HP:0000695 A tooth present at birth or erupting within the first month of life. PMID:19125428 PMID:31468724 Born with teeth https://orcid.org/0000-0001-5889-4463 Teeth present at birth https://orcid.org/0000-0001-5889-4463 Delayed tooth eruption affecting the secondary dentition. UMLS:C1849540 Delayed eruption of adult teeth Delayed eruption of permanent teeth Delayed eruption of secondary dentition Delayed eruption of secondary teeth Delayed permanent dentition human_phenotype HP:0000696 Delayed eruption of permanent teeth HP:0000696 Delayed tooth eruption affecting the secondary dentition. https://orcid.org/0000-0002-9338-3017 Delayed eruption of adult teeth https://orcid.org/0000-0001-5889-4463 Delayed eruption of permanent teeth true HP:0000697 An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. SNOMEDCT_US:29553002 UMLS:C0266037 UMLS:C4012359 Cone shaped tooth Conoid tooth Peg shaped teeth Peg tooth Peg-shaped teeth Peg-shaped tooth human_phenotype Conical teeth Peg shaped tooth Pointed tooth HP:0000698 A conical shape of a tooth occurs in incisors and canines only. Conical teeth may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. Conical tooth HP:0000698 An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Cone shaped tooth https://orcid.org/0000-0001-5889-4463 Conoid tooth https://orcid.org/0000-0001-5889-4463 Peg shaped tooth https://orcid.org/0000-0001-5889-4463 Pointed tooth https://orcid.org/0000-0001-5889-4463 Increased space between two adjacent teeth in the same dental arch. Gaps between teeth SNOMEDCT_US:35591002 UMLS:C0011998 Dental diastasis Dental diastema Diastasis of the teeth Diastema of the teeth Gap between teeth human_phenotype HP:0000699 Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. Diastema HP:0000699 Increased space between two adjacent teeth in the same dental arch. PMID:19125428 Gaps between teeth https://orcid.org/0000-0001-5889-4463 Dental diastasis https://orcid.org/0000-0001-5889-4463 Dental diastema https://orcid.org/0000-0001-5889-4463 Diastasis of the teeth https://orcid.org/0000-0001-5889-4463 Diastema of the teeth https://orcid.org/0000-0001-5889-4463 Gap between teeth https://orcid.org/0000-0002-6548-5200 Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). SNOMEDCT_US:81407003 SNOMEDCT_US:89988002 UMLS:C0031029 UMLS:C0034543 UMLS:C1852169 UMLS:C4280609 Dark spot around tooth root on x-ray Periapical lesion human_phenotype Bone loss around tooth root Periapical cyst Periapical granuloma Periapical radiolucencies Periapical radiolucency HP:0000700 Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. Periapical bone loss HP:0000700 Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). https://orcid.org/0000-0002-9338-3017 Dark spot around tooth root on x-ray https://orcid.org/0000-0001-5889-4463 Periapical lesion https://orcid.org/0000-0001-5889-4463 Bone loss around tooth root https://orcid.org/0000-0001-5889-4463 Periapical cyst https://orcid.org/0000-0001-5889-4463 Periapical granuloma https://orcid.org/0000-0001-5889-4463 true HP:0000701 true HP:0000702 Developmental dysplasia of dentin. SNOMEDCT_US:196286005 UMLS:C0011436 human_phenotype HP:0000703 This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. Dentinogenesis imperfecta HP:0000703 Developmental dysplasia of dentin. https://orcid.org/0000-0002-9338-3017 Inflammation of the periodontium. HP:0000165 HP:0006301 Gum disease Periodontal disease Periodontitis Pyorrhea human_phenotype HP:0000704 Periodontitis HP:0000704 Gum disease https://orcid.org/0000-0001-5889-4463 Pyorrhea https://orcid.org/0000-0001-5889-4463 A developmental dysplasia of the dental enamel. HP:0006284 HP:0006310 HP:0006325 HP:0006327 HP:0006331 SNOMEDCT_US:78494001 UMLS:C0002452 human_phenotype HP:0000705 Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. Amelogenesis imperfecta HP:0000705 A developmental dysplasia of the dental enamel. PMID:18499550 https://orcid.org/0000-0002-9338-3017 A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. Unerupted dentition SNOMEDCT_US:109542004 UMLS:C1290587 Failure of eruption of tooth Pseudo-anodontia Pseudoanodontia Unerupted tooth human_phenotype HP:0000706 Usually a tooth erupts at a stage of half or two-thirds of root formation. There are established norms for the timing of eruption and tooth stages in both deciduous and permanent teeth. It may be difficult to discern Delayed eruption from failure of eruption: failure indicates it will never erupt, delayed indicates it may still erupt. Eruption failure may be caused by an isolated obstacle (supernumerary teeth), ankylosis of impacted teeth, or disturbances of biological eruption pathway. Partial or complete non-eruption of not initially ankylosed teeth due to a disturbed eruption mechanism result in a severe form of posterior open bite that usually worsens from anterior to posterior. Eruption failure is usually asymmetrical, affects more posterior teeth and both dentition may be involved. The diagnosis eruption failure requires clinical and radiographic examinations. Eruption failure HP:0000706 A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Unerupted dentition https://orcid.org/0000-0001-5889-4463 Failure of eruption of tooth https://orcid.org/0000-0001-5889-4463 Unerupted tooth An abnormality of the nervous system. HP:0001333 HP:0006987 Brain and/or spinal cord issue SNOMEDCT_US:88425004 UMLS:C0497552 Abnormality of the nervous system Neurologic abnormalities Neurological abnormality human_phenotype HP:0000707 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. Abnormality of the nervous system HP:0000707 An abnormality of the nervous system. https://orcid.org/0000-0002-0736-9199 Brain and/or spinal cord issue Abnormality of the nervous system Neurologic abnormalities Neurological abnormality Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. HP:0000715 HP:0002368 HP:0002456 SNOMEDCT_US:25786006 SNOMEDCT_US:277843001 UMLS:C0004941 UMLS:C0233514 Behavioral abnormality Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral symptoms Behavioral/psychiatric abnormalities Behavioural abnormality Behavioural changes Behavioural disorders Behavioural disturbances Behavioural problems Behavioural symptoms Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances human_phenotype HP:0000708 Atypical behaviors should include or directly affect observable actions. While behavioral disorders often encompass abnormal thoughts, feelings, perceptions, or other cognitions, these alone would not be considered atypical behavioral features. Atypical behavior HP:0000708 Behavioral abnormality https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral changes https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral disorders https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral disturbances https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral problems https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral symptoms https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioral/psychiatric abnormalities https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural abnormality https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural changes https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural disorders https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural disturbances https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural problems https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural symptoms https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavioural/Psychiatric abnormality https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Psychiatric disorders https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Psychiatric disturbances https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. SNOMEDCT_US:69322001 UMLS:C0033975 Psychosis human_phenotype HP:0000709 Psychosis HP:0000709 Psychosis Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. UMLS:C1838320 Hyperoralia Hyperorality Mouthing human_phenotype HP:0000710 Hyperorality HP:0000710 Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects. PMID:29112858 Hyperoralia https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hyperorality https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Mouthing https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. SNOMEDCT_US:162221009 UMLS:C3887611 Fidgetiness Restiveness human_phenotype HP:0000711 Restlessness HP:0000711 Fidgetiness https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Restiveness https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. HP:0000720 HP:0001575 HP:0008766 Can't control feelings Emotional instability Mood lability SNOMEDCT_US:18963009 UMLS:C0085633 human_phenotype HP:0000712 Emotional lability HP:0000712 Can't control feelings Emotional instability Mood lability A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others. SNOMEDCT_US:24199005 UMLS:C0085631 Psychomotor agitation human_phenotype HP:0000713 Agitation HP:0000713 true HP:0000714 true HP:0000715 Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. SNOMEDCT_US:21061000119107 SNOMEDCT_US:35489007 SNOMEDCT_US:78667006 UMLS:C0011581 Depression Depressive episode Depressivity human_phenotype Depressive disorder HP:0000716 Depression HP:0000716 Depression Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). SNOMEDCT_US:408856003 SNOMEDCT_US:408857007 SNOMEDCT_US:43614003 UMLS:C0004352 Autism human_phenotype HP:0000717 The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. Autism HP:0000717 Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). https://orcid.org/0000-0002-6410-0882 Autism Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). HP:0006919 SNOMEDCT_US:248004009 SNOMEDCT_US:61372001 UMLS:C0001807 UMLS:C0424323 UMLS:C1457883 Aggression Aggressive behavior Aggressiveness human_phenotype physical aggression HP:0000718 Aggressive behavior HP:0000718 Aggression Aggressive behavior Aggressiveness physical aggression An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature. HP:0030220 SNOMEDCT_US:112082005 UMLS:C0233522 Inappropriate behavior Inappropriate behaviour human_phenotype HP:0000719 Inappropriate behavior HP:0000719 Inappropriate behavior Inappropriate behaviour HP:0000712 human_phenotype HP:0000720 obsolete Mood swings true HP:0000720 UMLS:C1837650 Lack of spontaneous play human_phenotype HP:0000721 Lack of spontaneous play HP:0000721 Lack of spontaneous play Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. SNOMEDCT_US:12479006 SNOMEDCT_US:191736004 UMLS:C0028768 UMLS:C0600104 OCD Obsessive compulsive behavior Obsessive compulsive behaviour Obsessive compulsive disorder Obsessive-compulsive behavior Obsessive-compulsive behaviour Obsessive-compulsive disorder human_phenotype HP:0000722 Compulsive behaviors HP:0000722 OCD https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive compulsive behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive compulsive behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive compulsive disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive-compulsive behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive-compulsive behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Obsessive-compulsive disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Behavior characterized by an abnormal limitation to a few interests and activities. UMLS:C2675334 UMLS:C4021799 Restricted behavior Restricted behaviour Restrictive behavior human_phenotype Restrictive behavior, interests, and activities HP:0000723 Restrictive behavior HP:0000723 Restricted behaviour Restrictive behavior, interests, and activities https://orcid.org/0000-0002-5316-1399 true HP:0000724 Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. UMLS:C0338614 Psychotic episodes human_phenotype HP:0000725 Psychotic episodes HP:0000725 Psychotic episodes A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. HP:0002274 HP:0007122 HP:0007150 HP:0007283 SNOMEDCT_US:52448006 UMLS:C0497327 Dementia Dementia, progressive Progressive dementia human_phenotype HP:0000726 Dementia HP:0000726 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. https://orcid.org/0000-0002-0736-9199 Dementia Dementia, progressive Progressive dementia SNOMEDCT_US:278857002 UMLS:C0338455 human_phenotype HP:0000727 Frontal lobe dementia HP:0000727 Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group. UMLS:C1837649 Impaired ability to form peer relationships human_phenotype HP:0000728 Reduced ability to form peer relationships HP:0000728 Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. UMLS:C0856975 UMLS:C1510586 ASD Autistic behaviour Pervasive developmental disorder human_phenotype Autism spectrum disorder Autism spectrum disorders Autistic behaviors Autistic behaviours HP:0000729 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. If possible, we recommend annotating using more specific terms. Autistic behavior HP:0000729 Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. PMID:28879490 https://orcid.org/0000-0002-0736-9199 ASD Autistic behaviour Autism spectrum disorder Autism spectrum disorders https://orcid.org/0000-0002-5316-1399 Autistic behaviors https://orcid.org/0000-0002-5316-1399 Autistic behaviours true HP:0000730 true HP:0000731 A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered. UMLS:C1837653 human_phenotype HP:0000732 Inflexible adherence to routines HP:0000732 Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. HP:0008758 HP:0008759 SNOMEDCT_US:5507002 SNOMEDCT_US:84328007 UMLS:C0038271 UMLS:C0038273 Abnormal repetitive mannerism Repetitive behavior Repetitive behaviour Stereotypic behaviour Repetitive movements Repetitive, stereotypic behavior Stereotyped Stereotyped behavior Stereotyped behaviors Stereotyped behaviour Stereotyped behaviours Stereotypic behaviour Stereotypic behaviours Stereotypical motor behavior Stereotypical motor behaviors Stereotypical motor behaviour Stereotypical motor behaviours Stimming repetitive behaviour human_phenotype HP:0000733 Motor stereotypy HP:0000733 Abnormal repetitive mannerism https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Repetitive behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Repetitive behaviour Stereotypic behaviour Repetitive movements https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0001-9114-8737 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Repetitive, stereotypic behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotyped https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotyped behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotyped behaviors https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotyped behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotyped behaviours https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotypic behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotypic behaviours https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotypical motor behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotypical motor behaviors https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stereotypical motor behaviour Stereotypical motor behaviours https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Stimming https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 repetitive behaviour Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. SNOMEDCT_US:247977003 UMLS:C0424296 Impulse control disorders Lack of self-control human_phenotype HP:0000734 Disinhibition affects motor, instinctual, emotional, cognitive, and perceptual aspects, exhibiting signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. Disinhibition HP:0000734 HP:0012760 human_phenotype HP:0000735 obsolete Impaired social interactions true HP:0000735 Reduced attention span characterized by distractibility and impulsivity. SNOMEDCT_US:247762003 UMLS:C0262630 Easily distracted Easy distractibility High distractibility Poor attention span Problem paying attention Short attention span human_phenotype HP:0000736 Short attention span HP:0000736 Reduced attention span characterized by distractibility and impulsivity. PMID:26386541 Easily distracted https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Poor attention span https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Problem paying attention https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Short attention span https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). UMLS:C2700617 Cranky Easily annoyed Easily bothered Easily upset Grumpy Hot-temper Irritability Irritable Quick temper Short fuse Short tempered human_phenotype HP:0000737 Consider the context of the individual experience; the state of being irritable implies a change from a recognized baseline. Irritability as a trait implies an enduring feature (years) of the individual. Synonyms that could be descriptive of either positive or negative emotions (e.g. emotional overactivity) should be at a higher level in the hierarchy (e.g. Abnormal affect). Irritability HP:0000737 An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). PMID:1521100 Cranky Easily annoyed Easily bothered Easily upset Grumpy Hot-temper Irritability Irritable Quick temper Short fuse Short tempered Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. SNOMEDCT_US:7011001 UMLS:C0018524 UMLS:C0235153 Hallucination Hallucinations Sensory hallucination human_phenotype HP:0000738 Hallucinations HP:0000738 Hallucination Hallucinations Sensory hallucination https://orcid.org/0000-0001-6908-9849 Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. SNOMEDCT_US:48694002 UMLS:C0003467 UMLS:C4020884 Anxiety Anxiousness Excessive, persistent worry and fear human_phenotype Anxiety disease HP:0000739 Anxiety HP:0000739 Anxiety Excessive, persistent worry and fear https://orcid.org/0000-0002-6548-5200 Anxiety disease Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable. UMLS:C1854339 human_phenotype HP:0000740 An anxiety attack may manifest with one or more of the following symptoms: (i) difficulty breathing; (ii) palpitations; (iii) a feeling of unreality; (iv) pain or tightness in the chest; (v) trembling, dizziness, or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (paresthesia); (xi) choking or smothering feelings. Episodic paroxysmal anxiety HP:0000740 Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy. SNOMEDCT_US:20602000 UMLS:C0085632 Lack of feeling, emotion, interest Lack of feeling, emotion, interest, motivation, initiation State of indifference human_phenotype HP:0000741 Apathy may co-occur with lethargy. Apathy HP:0000741 Lack of feeling, emotion, interest https://orcid.org/0000-0002-6548-5200 Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. SNOMEDCT_US:130968006 UMLS:C0036601 Deliberate self-harm Self mutilation Self-mutilation human_phenotype HP:0000742 Self-mutilation HP:0000742 Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. PMID:7754789 Deliberate self-harm https://orcid.org/0000-0001-5208-3432 Self mutilation Self-mutilation Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. HP:0006911 UMLS:C1833297 Frontal release reflexes human_phenotype HP:0000743 Frontal release signs HP:0000743 Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. https://orcid.org/0009-0006-4530-3154 The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other maladaptive behaviors. UMLS:C0548883 Intolerance to frustration human_phenotype HP:0000744 Low frustration tolerance HP:0000744 A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. SNOMEDCT_US:277521002 UMLS:C0456814 Diminished energy Diminished motivation Diminished volitional state Lack of initiative Lack of motivation Lacking in initiative Lacks initiative human_phenotype HP:0000745 Abnormal diminished volition HP:0000745 Diminished motivation Lack of initiative Lack of motivation Lacking in initiative Lacks initiative A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible. SNOMEDCT_US:2073000 UMLS:C0011253 Delusions human_phenotype HP:0000746 Delusion HP:0000746 Delusions true HP:0000747 Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying). SNOMEDCT_US:247985007 UMLS:C0424304 Inappropriate laughter human_phenotype HP:0000748 Inappropriate laughter HP:0000748 Inappropriate laughter UMLS:C1839749 Paroxysmal laughter human_phenotype HP:0000749 Paroxysmal bursts of laughter HP:0000749 A degree of language development that is significantly below the norm for a child of a specified age. HP:0002116 HP:0002117 HP:0002336 HP:0002399 HP:0002498 HP:0006936 HP:0007004 HP:0007127 HP:0007170 HP:0007172 SNOMEDCT_US:162294008 SNOMEDCT_US:229721007 SNOMEDCT_US:29164008 SNOMEDCT_US:62415009 UMLS:C0023012 UMLS:C0233715 UMLS:C0241210 UMLS:C0454644 Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech and language development Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay human_phenotype Poor speech acquisition Poor speech development Speech difficulties HP:0000750 Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. Delayed speech and language development HP:0000750 A degree of language development that is significantly below the norm for a child of a specified age. https://orcid.org/0000-0002-0736-9199 Deficiency of speech development Delayed language development Delayed speech https://orcid.org/0000-0002-5316-1399 Delayed speech acquisition Delayed speech and language development Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay Poor speech acquisition https://orcid.org/0000-0002-5316-1399 Poor speech development https://orcid.org/0000-0002-5316-1399 Speech difficulties An abnormal shift in patterns of thinking, acting, or feeling. SNOMEDCT_US:102943000 SNOMEDCT_US:192073007 UMLS:C0240735 Personality change Personality changes human_phenotype HP:0000751 This term refers to changes in personality that are perceived as abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. Personality changes HP:0000751 Personality change Personality changes Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. HP:0008764 SNOMEDCT_US:44548000 UMLS:C0424295 Hyperactive behavior Hyperactive behaviour Hyperkinetic disorder More active than typical human_phenotype HP:0000752 Hyperactivity HP:0000752 Hyperactive behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hyperactive behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hyperkinetic disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 More active than typical https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0002-6548-5200 https://orcid.org/0000-0003-3777-1389 UMLS:C4025832 human_phenotype HP:0000753 Autism with high cognitive abilities HP:0000753 true HP:0000754 true HP:0000755 A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather. SNOMEDCT_US:247830007 SNOMEDCT_US:70691001 UMLS:C0001818 Fear of open spaces human_phenotype HP:0000756 Agoraphobia HP:0000756 Fear of open spaces https://orcid.org/0000-0001-5208-3432 Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability. SNOMEDCT_US:24340004 UMLS:C0233824 Anosognosia Lack of insight human_phenotype HP:0000757 Reduced insight distinguishes itself from other misconceptions of reality by typically stemming not from the presence of false beliefs or hallucinations, but rather from a deficiency in the cognitive capacity needed to accurately comprehend one's environment. Lack of insight HP:0000757 Lack of insight Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication. UMLS:C4021798 Abnormal nonverbal communicative behavior Impaired use of nonverbal behaviors Impaired use of nonverbal behaviours human_phenotype HP:0000758 Abnormal nonverbal communicative behavior HP:0000758 Impaired use of nonverbal behaviors https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Impaired use of nonverbal behaviours https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). HP:0003483 SNOMEDCT_US:302226006 SNOMEDCT_US:42658009 UMLS:C0031117 UMLS:C4025831 Abnormal peripheral nervous system structure human_phenotype Peripheral nervous system disease HP:0000759 The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. Abnormal peripheral nervous system morphology HP:0000759 A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). https://orcid.org/0000-0002-0736-9199 Abnormal peripheral nervous system structure true HP:0000760 true HP:0000761 A reduction in the speed at which electrical signals propagate along the axon of a neuron. HP:0000761 HP:0007118 HP:0007218 HP:0007231 UMLS:C1857640 Decreased NCV Decreased nerve conduction velocities Delayed nerve conduction velocity Reduced nerve conduction velocities Slow nerve conduction velocity Slowed nerve conduction velocities human_phenotype HP:0000762 Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. Decreased nerve conduction velocity HP:0000762 A reduction in the speed at which electrical signals propagate along the axon of a neuron. https://orcid.org/0000-0002-0736-9199 Peripheral neuropathy affecting the sensory nerves. HP:0003410 HP:0006815 HP:0007043 HP:0007142 SNOMEDCT_US:95662005 UMLS:C0151313 Damage to nerves that sense feeling Peripheral sensory neuropathy human_phenotype HP:0000763 Sensory neuropathy HP:0000763 Peripheral neuropathy affecting the sensory nerves. https://orcid.org/0000-0002-0736-9199 Damage to nerves that sense feeling https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Progressive deterioration of peripheral axons. HP:0006787 HP:0006876 HP:0007304 UMLS:C4025830 human_phenotype HP:0000764 This finding is typically demonstrated by nerve biopsy. Peripheral axonal degeneration HP:0000764 Progressive deterioration of peripheral axons. https://orcid.org/0000-0002-0736-9199 Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). HP:0100655 UMLS:C4021797 Abnormality of the chest Abnormality of the thorax Structural abnormality of the chest wall human_phenotype HP:0000765 Abnormal thorax morphology HP:0000765 Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). https://orcid.org/0000-0002-0736-9199 Abnormality of the chest An anomaly of the sternum, also known as the breastbone. HP:0000780 HP:0006586 HP:0006594 HP:0006605 HP:0006630 HP:0006708 UMLS:C1860493 Abnormality of the sternum Pectus carinatum or pectus excavatum Pectus deformities Pectus deformity Pectus excavatum or carinatum Pectus excavatum or pectus carinatum Pectus excavatum/carinatum Sternal anomalies human_phenotype HP:0000766 Abnormal sternum morphology HP:0000766 An anomaly of the sternum, also known as the breastbone. https://orcid.org/0000-0002-0736-9199 Abnormality of the sternum Sternal anomalies A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. HP:0006613 HP:0006617 SNOMEDCT_US:391987005 UMLS:C2051831 Funnel chest human_phenotype HP:0000767 Pectus excavatum HP:0000767 A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. https://orcid.org/0000-0002-0736-9199 Funnel chest A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. HP:0006639 SNOMEDCT_US:205101001 UMLS:C0158731 Pigeon chest human_phenotype HP:0000768 Pectus carinatum HP:0000768 A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. https://orcid.org/0000-0002-0736-9199 Pigeon chest https://en.wikipedia.org/wiki/pectus_carinatum https://orcid.org/0000-0001-5208-3432 An abnormality of the breast. UMLS:C4025829 Abnormality of the breast human_phenotype HP:0000769 Abnormality of the breast HP:0000769 An abnormality of the breast. https://orcid.org/0000-0002-0736-9199 Abnormality of the breast true HP:0000770 Abnormal development of large mammary glands in males resulting in breast enlargement. HP:0000770 SNOMEDCT_US:4754008 UMLS:C0018418 Enlarged male breast Gynaecomastia human_phenotype HP:0000771 Gynecomastia HP:0000771 Abnormal development of large mammary glands in males resulting in breast enlargement. https://orcid.org/0000-0002-0736-9199 Enlarged male breast https://orcid.org/0000-0002-6548-5200 An anomaly of the rib. HP:0006618 UMLS:C1842083 Abnormality of the ribs Rib abnormalities Rib anomalies human_phenotype HP:0000772 Abnormal rib morphology HP:0000772 An anomaly of the rib. https://orcid.org/0000-0002-0736-9199 Abnormality of the ribs Rib abnormalities Reduced rib length. HP:0000899 HP:0000908 HP:0009750 SNOMEDCT_US:249696007 UMLS:C0426817 Hypoplastic ribs Rib hypoplasia Short ribs human_phenotype HP:0000773 Short ribs HP:0000773 Reduced rib length. https://orcid.org/0000-0002-0736-9199 Short ribs Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. HP:0000909 HP:0005252 HP:0006588 SNOMEDCT_US:249671009 UMLS:C0426790 Low chest circumference Narrow chest Narrow shoulders Narrow thorax Reduced anterior-posterior chest diameter human_phenotype HP:0000774 Narrow chest HP:0000774 Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. https://orcid.org/0000-0002-0736-9199 Low chest circumference Narrow chest Narrow shoulders Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. HP:0005204 UMLS:C1848873 Abnormality of the diaphragm Diaphragm issues Diaphragmatic defect human_phenotype HP:0000775 Abnormality of the diaphragm HP:0000775 Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. https://orcid.org/0000-0002-0736-9199 Abnormality of the diaphragm Diaphragm issues Diaphragmatic defect The presence of a hernia of the diaphragm present at birth. HP:0006604 SNOMEDCT_US:17190001 UMLS:C0235833 Diaphragmatic hernia human_phenotype HP:0000776 Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. Congenital diaphragmatic hernia HP:0000776 The presence of a hernia of the diaphragm present at birth. https://orcid.org/0000-0002-0736-9199 Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. SNOMEDCT_US:93297002 UMLS:C0262650 UMLS:C0685891 Abnormality of the thymus human_phenotype HP:0000777 Abnormal thymus morphology HP:0000777 Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. https://orcid.org/0000-0002-0736-9199 Abnormality of the thymus Underdevelopment of the thymus. SNOMEDCT_US:93297002 UMLS:C0685891 UMLS:C4228227 Small thymus Thymic hypoplasia Thymus hypoplasia human_phenotype HP:0000778 Hypoplasia of the thymus HP:0000778 Underdevelopment of the thymus. https://orcid.org/0000-0002-0736-9199 Small thymus https://orcid.org/0000-0001-5208-3432 true HP:0000779 true HP:0000780 true HP:0000781 Any abnormality of the scapula, also known as the shoulder blade. UMLS:C4025828 Abnormality of the shoulder blade human_phenotype HP:0000782 Abnormal scapula morphology HP:0000782 Any abnormality of the scapula, also known as the shoulder blade. https://orcid.org/0000-0002-0736-9199 Abnormality of the shoulder blade https://orcid.org/0000-0001-5208-3432 true HP:0000783 true HP:0000784 true HP:0000785 SNOMEDCT_US:8913004 UMLS:C0232939 human_phenotype HP:0000786 Primary amenorrhea HP:0000786 Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. HP:0000102 UMLS:C0392525 Kidney stones Nephrolithiasis Renal calculi Renal stones human_phenotype HP:0000787 Nephrolithiasis is derived from the Greek words nephros (kidney) and lithos (stone) and the suffix iasis (process) and refers to the condition of having one or more kidney stones. In practice, nephrolithiasis is used interchangably. In contrast to nephrolithiasis, diffuse renal parenchymal calcification is called nephrocalcinosis. Stones that develop in the urinary tract (known as nephrolithiasis or urolithiasis) form when the urine becomes excessively supersaturated with respect to a mineral, leading to crystal formation, growth, aggregation and retention within the kidneys. Crystals or foreign bodies can act as a nidus for further stone formation. The resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. Kidney stone HP:0000787 Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. PMID:28079115 https://orcid.org/0000-0002-0736-9199 Kidney stones true HP:0000788 SNOMEDCT_US:15296000 SNOMEDCT_US:8619003 UMLS:C0021359 Infertility human_phenotype HP:0000789 Infertility HP:0000789 Infertility The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). High urine occult blood SNOMEDCT_US:34436003 SNOMEDCT_US:53298000 UMLS:C0018965 Blood in urine human_phenotype HP:0000790 Hematuria HP:0000790 The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). https://orcid.org/0000-0002-0736-9199 High urine occult blood Blood in urine https://orcid.org/0000-0001-5208-3432 The presence of uric acid-containing calculi (stones) in the kidneys. SNOMEDCT_US:267441009 UMLS:C0403719 Uric acid stones Uric acid urolithiasis human_phenotype HP:0000791 Uric acid nephrolithiasis HP:0000791 The presence of uric acid-containing calculi (stones) in the kidneys. https://orcid.org/0000-0002-0736-9199 Uric acid stones true HP:0000792 A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity SNOMEDCT_US:80321008 UMLS:C0017662 MPGN Mesangiocapillary glomerulonephritis human_phenotype HP:0000793 Membranoproliferative glomerulonephritis HP:0000793 A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity PMID:19908070 MPGN The presence of immunoglobulin A deposits in the glomerulus. SNOMEDCT_US:236407003 SNOMEDCT_US:68779003 UMLS:C0017661 UMLS:C4025827 human_phenotype IgA nephropathy HP:0000794 IgA deposition in the glomerulus HP:0000794 The presence of immunoglobulin A deposits in the glomerulus. HPO_CONTRIBUTOR:Eurenomics_ewuehl An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. UMLS:C4025826 Urethra issue human_phenotype HP:0000795 Abnormality of the urethra HP:0000795 An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. https://orcid.org/0000-0002-0736-9199 Urethra issue Obstruction of the flow of urine through the urethra. SNOMEDCT_US:95588004 UMLS:C0041972 human_phenotype HP:0000796 Urethral obstruction HP:0000796 Obstruction of the flow of urine through the urethra. https://orcid.org/0000-0002-0736-9199 true HP:0000797 Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. UMLS:C0028960 Low sperm count Oligospermia human_phenotype HP:0000798 Oligozoospermia HP:0000798 Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. https://orcid.org/0000-0002-0736-9199 Low sperm count https://orcid.org/0000-0001-5208-3432 Abnormal fat accumulation in the kidneys. UMLS:C4021796 Fatty kidney human_phenotype HP:0000799 Renal steatosis HP:0000799 Abnormal fat accumulation in the kidneys. https://orcid.org/0000-0002-0736-9199 Fatty kidney HP:0008737 UMLS:C1834931 Bilateral cystic dysplasia Renal cystic dysplasia Renal dysplasia, cystic human_phenotype HP:0000800 Cystic renal dysplasia HP:0000800 true HP:0000801 Inability to develop or maintain an erection of the penis. SNOMEDCT_US:397803000 UMLS:C0242350 Difficulty getting a full erection Difficulty getting an erection human_phenotype HP:0000802 Impotence HP:0000802 Inability to develop or maintain an erection of the penis. https://orcid.org/0000-0002-0736-9199 Difficulty getting a full erection Difficulty getting an erection Cysts of the cortex of the kidney. UMLS:C1969144 Cortical cysts human_phenotype HP:0000803 Renal cortical cysts HP:0000803 Cysts of the cortex of the kidney. HPO_CONTRIBUTOR:Eurenomics_fschaefer The presence of xanthine-containing calculi (stones) in the kidneys. UMLS:C1848431 Urinary xanthine stones Xanthine stones human_phenotype HP:0000804 Xanthine nephrolithiasis HP:0000804 The presence of xanthine-containing calculi (stones) in the kidneys. https://orcid.org/0000-0002-0736-9199 Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. SNOMEDCT_US:8009008 UMLS:C0014394 human_phenotype HP:0000805 Enuresis HP:0000805 Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. https://orcid.org/0009-0006-4530-3154 true HP:0000806 A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. SNOMEDCT_US:204891000 SNOMEDCT_US:429631000124104 UMLS:C0452168 Balanic hypospadias human_phenotype HP:0000807 Glanular hypospadias is the mildest form of hypospadias. Glanular hypospadias HP:0000807 A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. PMID:28190103 A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. SNOMEDCT_US:204889008 UMLS:C0452147 human_phenotype HP:0000808 Penoscrotal hypospadias HP:0000808 A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. https://orcid.org/0000-0002-0736-9199 Congenital absence of the normal opening of a structure of the urinary tract. 2008-02-27T04:07:00Z UMLS:C1389003 human_phenotype HP:0000809 Urinary tract atresia HP:0000809 Congenital absence of the normal opening of a structure of the urinary tract. https://orcid.org/0000-0002-0736-9199 true HP:0000810 A structural anomaly of the external genitalia. UMLS:C4025825 Abnormal external genitalia human_phenotype HP:0000811 Abnormal external genitalia morphology HP:0000811 Abnormal external genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). UMLS:C4025824 Abnormal internal genitalia human_phenotype HP:0000812 Abnormal internal genitalia HP:0000812 An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). https://orcid.org/0000-0002-0736-9199 Abnormal internal genitalia The presence of a bicornuate uterus. HP:0008735 SNOMEDCT_US:31401003 UMLS:C0266387 Heart shaped uterus Heart-shaped uterus Uterus bicornis human_phenotype HP:0000813 Uterus with two horn-shaped branches. Bicornuate uterus HP:0000813 The presence of a bicornuate uterus. https://orcid.org/0000-0002-0736-9199 Heart shaped uterus https://orcid.org/0000-0002-6548-5200 Heart-shaped uterus https://orcid.org/0000-0002-6548-5200 true HP:0000814 Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. HP:0008679 SNOMEDCT_US:370999003 UMLS:C0948896 Hypergonadotrophic hypogonadism Primary hypogonadism human_phenotype HP:0000815 Hypergonadotropic hypogonadism HP:0000815 Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. https://orcid.org/0000-0002-0736-9199 An abnormality of the tricarboxylic acid cycle. 2008-03-17T12:58:00Z UMLS:C4021795 Abnormality of citric acid cycle Abnormality of the tricarboxylic cycle human_phenotype HP:0000816 Abnormality of Krebs cycle metabolism HP:0000816 An abnormality of the tricarboxylic acid cycle. https://orcid.org/0000-0002-0736-9199 Abnormality of citric acid cycle https://orcid.org/0000-0002-0736-9199 A reduced frequency or duration of eye contact. SNOMEDCT_US:412786000 UMLS:C1445953 Poor eye contact human_phenotype HP:0000817 Eye contact, defined as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. Reduced eye contact HP:0000817 Poor eye contact https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 An abnormality of the endocrine system. SNOMEDCT_US:362969004 UMLS:C0014130 UMLS:C4025823 human_phenotype Endocrine system disease HP:0000818 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. Abnormality of the endocrine system HP:0000818 An abnormality of the endocrine system. https://orcid.org/0000-0002-0736-9199 A group of abnormalities characterized by hyperglycemia and glucose intolerance. HP:0004908 HP:0008217 HP:0008234 HP:0008260 SNOMEDCT_US:73211009 UMLS:C0011849 human_phenotype HP:0000819 Diabetes mellitus HP:0000819 A group of abnormalities characterized by hyperglycemia and glucose intolerance. https://orcid.org/0000-0002-0736-9199 An abnormality of the thyroid gland. SNOMEDCT_US:14304000 UMLS:C0040128 Abnormality of the thyroid gland Thyroid abnormality human_phenotype Thyroid disease HP:0000820 Abnormality of the thyroid gland HP:0000820 An abnormality of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Abnormality of the thyroid gland Thyroid abnormality Thyroid disease Deficiency of thyroid hormone. HP:0003222 HP:0008203 SNOMEDCT_US:40930008 UMLS:C0020676 Low T4 Underactive thyroid human_phenotype HP:0000821 Hypothyroidism HP:0000821 Deficiency of thyroid hormone. https://orcid.org/0000-0002-0736-9199 Underactive thyroid https://orcid.org/0000-0001-5208-3432 The presence of chronic increased pressure in the systemic arterial system. HP:0004949 HP:0005126 SNOMEDCT_US:24184005 SNOMEDCT_US:38341003 UMLS:C0020538 UMLS:C0497247 Arterial hypertension Systemic hypertension human_phenotype High blood pressure HP:0000822 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. Hypertension HP:0000822 The presence of chronic increased pressure in the systemic arterial system. https://orcid.org/0000-0002-0736-9199 High blood pressure https://orcid.org/0000-0001-5208-3432 Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. HP:0008859 HP:0010466 HP:0010467 SNOMEDCT_US:123526007 SNOMEDCT_US:400003000 UMLS:C0034012 Delayed pubertal development Delayed pubertal growth Delayed puberty Pubertal delay human_phenotype HP:0000823 The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. Delayed puberty HP:0000823 Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. https://orcid.org/0000-0002-0736-9199 Delayed pubertal development Delayed pubertal growth Delayed puberty Pubertal delay https://orcid.org/0000-0002-5316-1399 Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. HP:0000861 HP:0008195 HP:0008206 SNOMEDCT_US:2109003 UMLS:C3714796 human_phenotype HP:0000824 GH stimulation tests are performed with various stimuli, such as insulin, L-dopa, arginine, and growth hormone releasing hormone (GHRH). The test using insulin as a stimulus is classically recommended, but this test has potential risks such as hypoglycemia. The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. Decreased response to growth hormone stimulation test HP:0000824 Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. PMID:25914878 https://orcid.org/0000-0002-0736-9199 An increased concentration of insulin combined with a decreased concentration of glucose in the blood. UMLS:C1864903 Hyperinsulinaemic hypoglycaemia Hyperinsulinemia hypoglycemia human_phenotype HP:0000825 Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. Hyperinsulinemic hypoglycemia HP:0000825 An increased concentration of insulin combined with a decreased concentration of glucose in the blood. https://orcid.org/0000-0002-0736-9199 The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. SNOMEDCT_US:123527003 SNOMEDCT_US:400179000 UMLS:C0034013 Early onset of puberty Early puberty human_phenotype HP:0000826 Precocious puberty HP:0000826 The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. https://orcid.org/0000-0002-0736-9199 Early onset of puberty https://orcid.org/0000-0001-5208-3432 Early puberty true HP:0000827 An abnormality of the parathyroid gland. SNOMEDCT_US:73132005 UMLS:C0030517 UMLS:C4025822 human_phenotype Parathyroid disease HP:0000828 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. Abnormality of the parathyroid gland HP:0000828 An abnormality of the parathyroid gland. https://orcid.org/0000-0002-0736-9199 A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. HP:0000856 HP:0008292 SNOMEDCT_US:36976004 UMLS:C0020626 Decreased parathyroid hormone secretion Low parathyroid hormone human_phenotype HP:0000829 Hypoparathyroidism HP:0000829 A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. https://orcid.org/0000-0002-0736-9199 Decreased parathyroid hormone secretion https://orcid.org/0000-0002-6548-5200 A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. UMLS:C4025821 human_phenotype HP:0000830 Anterior hypopituitarism HP:0000830 A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. https://orcid.org/0000-0002-0736-9199 A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. UMLS:C0854110 Insulin resistant diabetes Insulin resistant diabetes mellitus Insulin-resistant diabetes human_phenotype HP:0000831 Insulin-resistant diabetes mellitus HP:0000831 A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. PMID:7706500 https://orcid.org/0000-0002-0736-9199 Insulin resistant diabetes Insulin-resistant diabetes A type of hypothyroidism that results from a defect in the thyroid gland. SNOMEDCT_US:111566002 UMLS:C0700502 human_phenotype HP:0000832 Primary hypothyroidism HP:0000832 A type of hypothyroidism that results from a defect in the thyroid gland. https://orcid.org/0000-0002-0736-9199 HP:0001952 human_phenotype HP:0000833 obsolete Glucose intolerance true HP:0000833 Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. SNOMEDCT_US:30171000 UMLS:C0001621 UMLS:C4021794 Adrenal abnormalities human_phenotype Adrenal gland disease HP:0000834 Abnormality of the adrenal glands HP:0000834 Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. https://orcid.org/0000-0002-0736-9199 Adrenal abnormalities Adrenal gland disease Developmental hypoplasia of the adrenal glands. SNOMEDCT_US:237774001 UMLS:C0342491 UMLS:C1846223 Adrenal gland hypoplasia Hypoplastic adrenal glands Small adrenal glands Underdeveloped adrenal glands human_phenotype HP:0000835 Adrenal hypoplasia HP:0000835 Developmental hypoplasia of the adrenal glands. https://orcid.org/0000-0002-0736-9199 Small adrenal glands An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). HP:0008241 SNOMEDCT_US:34486009 UMLS:C0020550 Overactive thyroid human_phenotype HP:0000836 Hyperthyroidism HP:0000836 An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). https://orcid.org/0000-0002-0736-9199 Overactive thyroid http://www.mayoclinic.org/diseases-conditions/hyperthyroidism/basics/definition/con-20020986 https://orcid.org/0000-0001-5208-3432 Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. HP:0030340 UMLS:C1862265 Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess Increased circulating gonadotropin level human_phenotype HP:0000837 Increased circulating gonadotropin level HP:0000837 Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. https://orcid.org/0000-0002-0538-4547 Elevated gonadotropins Elevated serum gonadotropins Gonadotropin excess Increased circulating gonadotropin level true HP:0000838 A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. SNOMEDCT_US:367460001 SNOMEDCT_US:7530009 UMLS:C0013338 human_phenotype HP:0000839 Pituitary dwarfism HP:0000839 A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. https://orcid.org/0000-0002-0736-9199 Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. HP:0001921 SNOMEDCT_US:237751000 SNOMEDCT_US:267395000 SNOMEDCT_US:271077003 UMLS:C0302280 human_phenotype HP:0000840 Adrenogenital syndrome HP:0000840 Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. https://orcid.org/0000-0002-0736-9199 An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. UMLS:C1846345 UMLS:C3150267 human_phenotype Increased plasma renin activity HP:0000841 If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. Hyperactive renin-angiotensin system HP:0000841 An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. https://orcid.org/0000-0002-0736-9199 Increased plasma renin activity https://orcid.org/0000-0002-5316-1399 An increased concentration of insulin in the blood. SNOMEDCT_US:83469008 UMLS:C0020459 Elevated insulin level human_phenotype HP:0000842 Hyperinsulinemia HP:0000842 An increased concentration of insulin in the blood. https://orcid.org/0000-0002-0736-9199 Excessive production of parathyroid hormone (PTH) by the parathyroid glands. SNOMEDCT_US:66999008 UMLS:C0020502 Elevated blood parathyroid hormone level human_phenotype HP:0000843 Hyperparathyroidism HP:0000843 Excessive production of parathyroid hormone (PTH) by the parathyroid glands. https://orcid.org/0000-0002-0736-9199 Elevated blood parathyroid hormone level https://orcid.org/0000-0001-5208-3432 true HP:0000844 Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. HP:0008856 SNOMEDCT_US:74107003 UMLS:C0001206 UMLS:C0235986 Elevated circulating somatotropin concentration Growth hormone excess Somatotropin excess human_phenotype HP:0000845 Disorder resulting from excess pituitary gland production of growth hormone (hGH). Elevated circulating growth hormone concentration HP:0000845 Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Growth hormone excess Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. HP:0000865 HP:0008218 SNOMEDCT_US:111563005 SNOMEDCT_US:237785004 SNOMEDCT_US:386584007 UMLS:C0001623 Hypoadrenalism human_phenotype HP:0000846 Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. Adrenal insufficiency HP:0000846 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. PMID:11443143 https://orcid.org/0000-0002-0736-9199 An abnormality of the renin-angiotensin system. HP:0003350 UMLS:C4021793 Abnormality of the renin-aldosterone axis human_phenotype HP:0000847 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. Abnormality of renin-angiotensin system HP:0000847 An abnormality of the renin-angiotensin system. https://orcid.org/0000-0002-0736-9199 An increased level of renin in the blood. HP:0003615 UMLS:C0240783 Elevated blood renin level Elevated plasma renin Hyperreninemia Increased circulating renin level Increased plasma renin Increased serum renin human_phenotype HP:0000848 Increased circulating renin concentration HP:0000848 An increased level of renin in the blood. https://orcid.org/0000-0002-0736-9199 Elevated blood renin level https://orcid.org/0000-0002-6548-5200 UMLS:C4025820 human_phenotype HP:0000849 Adrenocortical abnormality HP:0000849 true HP:0000850 A type of hypothyroidism with congenital onset. SNOMEDCT_US:190268003 SNOMEDCT_US:217710005 UMLS:C0010308 Hypothyroidism, congenital Underactive thyroid gland from birth human_phenotype HP:0000851 Congenital hypothyroidism HP:0000851 A type of hypothyroidism with congenital onset. https://orcid.org/0000-0002-0736-9199 Underactive thyroid gland from birth https://orcid.org/0000-0002-6548-5200 A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. SNOMEDCT_US:58976002 UMLS:C0033806 human_phenotype HP:0000852 Pseudohypoparathyroidism HP:0000852 A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. https://orcid.org/0000-0002-0736-9199 An enlargement of the thyroid gland. SNOMEDCT_US:3716002 UMLS:C0018021 Enlarged thyroid gland in neck Goitre Thyroid goiter Thyroid goitre human_phenotype HP:0000853 Goiter HP:0000853 An enlargement of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Enlarged thyroid gland in neck https://orcid.org/0000-0002-6548-5200 Goitre Thyroid goitre The presence of a adenoma of the thyroid gland. NCIT:C2855 SNOMEDCT_US:255033000 SNOMEDCT_US:255034006 UMLS:C0151468 human_phenotype HP:0000854 Thyroid adenoma HP:0000854 The presence of a adenoma of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. SNOMEDCT_US:48606007 UMLS:C0021655 Body fails to respond to insulin human_phenotype HP:0000855 Insulin resistance HP:0000855 Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. https://orcid.org/0000-0002-0736-9199 Body fails to respond to insulin https://orcid.org/0000-0002-6548-5200 true HP:0000856 UMLS:C3278636 human_phenotype HP:0000857 Neonatal insulin-dependent diabetes mellitus HP:0000857 Abnormally high variation in the amount of time between periods. SNOMEDCT_US:80182007 UMLS:C0156404 Irregular menses Irregular periods Menstrual irregularities Menstrual irregularity human_phenotype HP:0000858 Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. Irregular menstruation HP:0000858 Abnormally high variation in the amount of time between periods. PMID:29323693 Menstrual irregularity Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. HP:0004318 HP:0005975 SNOMEDCT_US:88213004 UMLS:C0020428 Elevated plasma aldosterone Increased aldosterone Increased aldosterone production Mineralocorticoid excess human_phenotype Hyperaldosteronism HP:0000859 Increased circulating aldosterone concentration HP:0000859 Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Elevated plasma aldosterone Increased aldosterone Increased aldosterone production Developmental hypoplasia of the parathyroid gland. UMLS:C1389851 Small parathyroid glands Underdeveloped parathyroid glands human_phenotype HP:0000860 Parathyroid hypoplasia HP:0000860 Developmental hypoplasia of the parathyroid gland. https://orcid.org/0000-0002-0736-9199 Small parathyroid glands https://orcid.org/0000-0001-5208-3432 Underdeveloped parathyroid glands https://orcid.org/0000-0001-5208-3432 true HP:0000861 true HP:0000862 A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. HP:0008210 SNOMEDCT_US:45369008 UMLS:C0687720 Neurohypophyseal diabetes insipidus human_phenotype HP:0000863 Central diabetes insipidus HP:0000863 A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. https://orcid.org/0000-0002-0736-9199 Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. HP:0000838 HP:0000844 UMLS:C4025819 human_phenotype HP:0000864 Abnormality of the hypothalamus-pituitary axis HP:0000864 Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. https://orcid.org/0000-0002-0538-4547 true HP:0000865 UMLS:C1846034 Euthyroid multinodular goitre human_phenotype HP:0000866 Euthyroid multinodular goiter HP:0000866 Euthyroid multinodular goitre Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. SNOMEDCT_US:91478007 UMLS:C0020503 human_phenotype HP:0000867 Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. Secondary hyperparathyroidism HP:0000867 Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. PMID:19836494 https://orcid.org/0000-0002-0736-9199 UMLS:C0151639 Decreased fertility in females Reduced fertility in females human_phenotype HP:0000868 Decreased fertility in females HP:0000868 Decreased fertility in females Reduced fertility in females SNOMEDCT_US:86030004 UMLS:C0232940 Previous menstrual periods stop human_phenotype HP:0000869 Secondary amenorrhea HP:0000869 Previous menstrual periods stop https://orcid.org/0000-0002-6548-5200 The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. SNOMEDCT_US:237662005 UMLS:C0020514 Hyperprolactinaemia Hyperprolactinemia Prolactin excess human_phenotype HP:0000870 Increased circulating prolactin concentration HP:0000870 The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). SNOMEDCT_US:32390006 UMLS:C0242343 human_phenotype HP:0000871 Panhypopituitarism HP:0000871 A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). PMID:12466332 https://orcid.org/0000-0002-0736-9199 A chronic, autoimmune type of thyroiditis associated with hypothyroidism. SNOMEDCT_US:21983002 UMLS:C0677607 Chronic lymphocytic thyroiditis Hashimoto's thyroiditis human_phenotype HP:0000872 Hashimoto thyroiditis HP:0000872 A chronic, autoimmune type of thyroiditis associated with hypothyroidism. https://orcid.org/0000-0002-0736-9199 A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). SNOMEDCT_US:15771004 UMLS:C0011848 human_phenotype HP:0000873 Diabetes insipidus HP:0000873 A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). https://orcid.org/0000-0002-0736-9199 true HP:0000874 UMLS:C1857175 Intermittent high blood pressure human_phenotype HP:0000875 Episodic hypertension HP:0000875 Intermittent high blood pressure https://orcid.org/0000-0001-6908-9849 Infrequent menses (less than 6 per year or more than 35 days between cycles). SNOMEDCT_US:52073004 UMLS:C0028949 Light or infrequent menstrual periods human_phenotype HP:0000876 Oligomenorrhea HP:0000876 Infrequent menses (less than 6 per year or more than 35 days between cycles). PMID:22594864 https://orcid.org/0000-0002-0736-9199 Light or infrequent menstrual periods https://orcid.org/0000-0002-6548-5200 UMLS:C1837792 Insulin-resistant diabetes mellitus at puberty human_phenotype HP:0000877 Insulin-resistant diabetes mellitus at puberty HP:0000877 Insulin-resistant diabetes mellitus at puberty Presence of only 11 pairs of ribs. UMLS:C1839731 11 pairs of ribs human_phenotype HP:0000878 Normally, there are 12 pairs of ribs. 11 pairs of ribs HP:0000878 Presence of only 11 pairs of ribs. https://orcid.org/0000-0002-0736-9199 11 pairs of ribs Decreased inferosuperior length of the sternum. SNOMEDCT_US:298724002 UMLS:C0575497 UMLS:C4020883 Short sternum human_phenotype Hypoplastic sternum HP:0000879 Short sternum HP:0000879 Decreased inferosuperior length of the sternum. https://orcid.org/0000-0002-0736-9199 Short sternum true HP:0000880 true HP:0000881 Underdeveloped scapula. HP:0000906 HP:0006616 UMLS:C1846434 Hypoplastic scapula Scapular hypoplasia Short scapulae Small scapula Small scapulae Small shoulder blade human_phenotype HP:0000882 Hypoplastic scapulae HP:0000882 Underdeveloped scapula. https://orcid.org/0000-0002-0736-9199 Small shoulder blade https://orcid.org/0000-0001-5208-3432 Ribs with a reduced diameter. SNOMEDCT_US:249697003 UMLS:C0426818 Slender ribs Thin ribs human_phenotype HP:0000883 Thin ribs HP:0000883 Ribs with a reduced diameter. https://orcid.org/0000-0002-0736-9199 Slender ribs Thin ribs UMLS:C1846433 Prominent sternum Sternal protrusion human_phenotype HP:0000884 Prominent sternum HP:0000884 Prominent sternum Increased width of ribs HP:0000903 HP:0000950 HP:0006667 UMLS:C1848654 Broad ribs Wide ribs human_phenotype HP:0000885 Broad ribs HP:0000885 Increased width of ribs https://orcid.org/0000-0002-0736-9199 Broad ribs Wide ribs Malformation of the rib cage. UMLS:C1838659 Deformed rib cage human_phenotype HP:0000886 Deformed rib cage HP:0000886 Malformation of the rib cage. https://orcid.org/0000-0002-0736-9199 Deformed rib cage Wide, concave rib end. HP:0006635 SNOMEDCT_US:249704008 UMLS:C0426826 UMLS:C1865039 Cupped ribs Rib cupping human_phenotype Rib flaring HP:0000887 Cupped ribs HP:0000887 Wide, concave rib end. https://orcid.org/0000-0002-0736-9199 Cupped ribs Rib cupping Rib flaring A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. UMLS:C3806510 Horizontal ribs human_phenotype HP:0000888 Horizontal ribs HP:0000888 A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. https://orcid.org/0000-0002-0736-9199 Horizontal ribs Any abnormality of the clavicles (collar bones). UMLS:C4021792 Abnormal clavicles Abnormal collarbone Abnormality of the clavicle human_phenotype HP:0000889 Abnormal clavicle morphology HP:0000889 Any abnormality of the clavicles (collar bones). https://orcid.org/0000-0002-0736-9199 Abnormal collarbone https://orcid.org/0000-0001-5208-3432 Increased length of the clavicles. HP:0006592 SNOMEDCT_US:249687007 UMLS:C0426808 Elongated clavicles Long clavicles Long collarbone human_phenotype HP:0000890 Long clavicle HP:0000890 Increased length of the clavicles. https://orcid.org/0000-0002-0736-9199 Long clavicles Long collarbone https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:72535009 UMLS:C0158779 human_phenotype HP:0000891 Cervical ribs HP:0000891 A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. UMLS:C4721788 Cleft ribs Split ribs human_phenotype HP:0000892 Bifid ribs HP:0000892 A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. https://orcid.org/0000-0002-0736-9199 Cleft ribs https://orcid.org/0000-0001-5208-3432 Split ribs https://orcid.org/0000-0001-5208-3432 Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. UMLS:C1848538 human_phenotype HP:0000893 The costochondral junction is the structure where the ribs articulate with the sternum. Bulging of the costochondral junction HP:0000893 Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. https://orcid.org/0000-0002-0736-9199 Reduced length of the clavicles. HP:0000898 HP:0005698 HP:0005902 SNOMEDCT_US:93250003 UMLS:C0426799 Clavicular hypoplasia Hypoplastic clavicles Short collarbone Underdeveloped clavicles human_phenotype HP:0000894 Short clavicles HP:0000894 Reduced length of the clavicles. https://orcid.org/0000-0002-0736-9199 Short collarbone https://orcid.org/0000-0001-5208-3432 An excessive upward convexity of the lateral clavicle. SNOMEDCT_US:249684000 UMLS:C0426805 Handlebar clavicle Hook-shaped clavicle Hook-shaped collarbone Hooked clavicle human_phenotype HP:0000895 Lateral clavicle hook HP:0000895 An excessive upward convexity of the lateral clavicle. PMID:7322653 https://orcid.org/0000-0002-0736-9199 Hook-shaped collarbone https://orcid.org/0000-0001-5208-3432 Multiple circumscribed bony excrescences located in the ribs. UMLS:C1835579 human_phenotype HP:0000896 Rib exostoses HP:0000896 Multiple circumscribed bony excrescences located in the ribs. https://orcid.org/0000-0002-0736-9199 A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. SNOMEDCT_US:15214001 SNOMEDCT_US:249702007 human_phenotype HP:0000897 Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene. Rachitic rosary HP:0000897 A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. PMID:26745253 https://orcid.org/0000-0002-0736-9199 true HP:0000898 true HP:0000899 Increased thickness (diameter) of ribs. SNOMEDCT_US:249699000 UMLS:C0426820 human_phenotype HP:0000900 Thickened ribs HP:0000900 Increased thickness (diameter) of ribs. https://orcid.org/0000-0002-0736-9199 true HP:0000901 Complete or partial merging of adjacent ribs. HP:0000880 UMLS:C1844749 Fused ribs Rib fusion human_phenotype HP:0000902 Rib fusion HP:0000902 Complete or partial merging of adjacent ribs. https://orcid.org/0000-0002-0736-9199 Fused ribs Rib fusion true HP:0000903 The presence of wide, concave anterior rib ends. HP:0006656 UMLS:C1854780 Anterior flaring of ribs Flaring of rib cage human_phenotype HP:0000904 Flaring of rib cage HP:0000904 The presence of wide, concave anterior rib ends. https://orcid.org/0000-0002-0736-9199 Flaring of rib cage Progressive bone resorption in the distal part of the clavicle. UMLS:C1837757 Progressive acroosteolysis of the clavicle human_phenotype HP:0000905 Progressive clavicular acroosteolysis HP:0000905 Progressive bone resorption in the distal part of the clavicle. https://orcid.org/0000-0002-0736-9199 true HP:0000906 Wide, concave anterior rib end. HP:0006601 UMLS:C1846154 Anterior cupping of ribs Anteriorly splayed ribs human_phenotype HP:0000907 Anterior rib cupping HP:0000907 Wide, concave anterior rib end. https://orcid.org/0000-0002-0736-9199 true HP:0000908 true HP:0000909 UMLS:C1861213 human_phenotype HP:0000910 Wide-cupped costochondral junctions HP:0000910 Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. UMLS:C1855177 human_phenotype HP:0000911 See PMID:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. Flat glenoid fossa HP:0000911 Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. PMID:15163819 https://orcid.org/0000-0002-0736-9199 A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). HP:0006621 MEDDRA:10010455 SNOMEDCT_US:79120002 UMLS:C0152438 Congenital, upward displacement of the scapula High scapula High shoulder blade Sprengel deformity human_phenotype HP:0000912 Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. Sprengel anomaly HP:0000912 A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). https://orcid.org/0000-0002-0736-9199 MEDDRA:10010455 Congenital elevation of scapula High scapula https://en.wikipedia.org/wiki/sprengel%27s_deformity https://orcid.org/0000-0001-5208-3432 High shoulder blade https://orcid.org/0000-0001-5208-3432 Complete or partial merging of the posterior part of adjacent ribs. UMLS:C1842084 human_phenotype HP:0000913 Posterior rib fusion HP:0000913 Complete or partial merging of the posterior part of adjacent ribs. https://orcid.org/0000-0002-0736-9199 A broad chest. UMLS:C1834124 UMLS:C1839248 Shield chest human_phenotype Broad chest HP:0000914 Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. Shield chest HP:0000914 A broad chest. PMID:22368597 https://orcid.org/0000-0002-0736-9199 Shield chest Broad chest https://orcid.org/0000-0001-5208-3432 Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. UMLS:C1864796 Pectus excavatum inferiorly human_phenotype HP:0000915 Pectus excavatum of inferior sternum HP:0000915 Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. https://orcid.org/0000-0002-0736-9199 Increased width (cross-sectional diameter) of the clavicles. HP:0006651 SNOMEDCT_US:249680009 UMLS:C0426801 Broad clavicles Broad collarbone human_phenotype HP:0000916 Broad clavicle HP:0000916 Increased width (cross-sectional diameter) of the clavicles. https://orcid.org/0000-0002-0736-9199 Broad clavicles Broad collarbone https://orcid.org/0000-0001-5208-3432 Pectus carinatum affecting primarily the superior part of the sternum. UMLS:C1864795 Pectus carinatum superiorly human_phenotype HP:0000917 Superior pectus carinatum HP:0000917 Pectus carinatum affecting primarily the superior part of the sternum. https://orcid.org/0000-0002-0736-9199 The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. UMLS:C1851415 Scapulae exostoses Shoulder bone exostoes human_phenotype HP:0000918 Scapular exostoses HP:0000918 The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. https://orcid.org/0000-0002-0736-9199 Shoulder bone exostoes https://orcid.org/0000-0001-5208-3432 Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. UMLS:C4021791 Costochondral juctions abnormal human_phenotype HP:0000919 The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. Abnormality of the costochondral junction HP:0000919 Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. https://orcid.org/0000-0002-0736-9199 Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. HP:0006620 UMLS:C1857180 Costochondral thickening Enlarged costochondral junctions Prominent costochondral junction Wide costochondral junctions Widened costochondral junction human_phenotype HP:0000920 Enlargement of the costochondral junction HP:0000920 Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. https://orcid.org/0000-0002-0736-9199 A developmental anomaly with absence of one or more ribs. HP:0000881 HP:0006627 SNOMEDCT_US:249695006 UMLS:C0426816 Absent ribs Decreased rib number Missing ribs human_phenotype HP:0000921 Missing ribs HP:0000921 A developmental anomaly with absence of one or more ribs. https://orcid.org/0000-0002-0736-9199 Absent ribs Decreased rib number Missing ribs Wide, concave posterior rib end. HP:0006622 UMLS:C1837483 Anterior and posterior rib cupping human_phenotype HP:0000922 Posterior rib cupping HP:0000922 Wide, concave posterior rib end. https://orcid.org/0000-0002-0736-9199 HP:0006640 human_phenotype HP:0000923 obsolete Beaded ribs true HP:0000923 An abnormality of the skeletal system. UMLS:C4021790 Abnormality of the skeletal system Skeletal abnormalities Skeletal anomalies human_phenotype HP:0000924 Abnormality of the skeletal system HP:0000924 An abnormality of the skeletal system. https://orcid.org/0000-0002-0736-9199 Abnormality of the skeletal system Skeletal abnormalities Skeletal anomalies Any abnormality of the vertebral column. UMLS:C4020882 UMLS:C4021789 Abnormal spine Abnormal vertebral column Abnormality of the spine Abnormality of the vertebral column human_phenotype Abnormality of the backbone HP:0000925 Abnormality of the vertebral column HP:0000925 Any abnormality of the vertebral column. https://orcid.org/0000-0002-0736-9199 Abnormal spine https://orcid.org/0000-0002-5316-1399 Abnormal vertebral column Abnormality of the spine Abnormality of the vertebral column Abnormality of the backbone A flattened vertebral body shape with reduced distance between the vertebral endplates. HP:0002940 HP:0003421 HP:0004595 HP:0004623 HP:0004627 HP:0005123 HP:0005644 HP:0008466 UMLS:C1844704 Flat vertebral bodies Flattened vertebrae Flattened vertebral bodies human_phenotype HP:0000926 Platyspondyly HP:0000926 A flattened vertebral body shape with reduced distance between the vertebral endplates. https://orcid.org/0000-0002-0736-9199 Flattened vertebrae https://orcid.org/0000-0001-5208-3432 The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. UMLS:C4025818 Abnormality of skeletal maturation human_phenotype HP:0000927 Abnormality of skeletal maturation HP:0000927 The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. https://orcid.org/0000-0002-0736-9199 Abnormality of skeletal maturation true HP:0000928 An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. UMLS:C0235942 Abnormality of the skull Abnormality of the skull bones human_phenotype HP:0000929 Abnormal skull morphology HP:0000929 An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the skull Abnormality of the skull bones https://orcid.org/0000-0001-5889-4463 UMLS:C4025817 Elevated imprint of occipital bone over the transverse sinuses Elevated imprint of posterior skull bones over the transverse sinuses Thinning and bulging of occipital bone over the transverse sinuses Thinning and bulging of posterior skull bones over the transverse sinuses human_phenotype HP:0000930 Elevated imprint of the transverse sinuses HP:0000930 Elevated imprint of occipital bone over the transverse sinuses https://orcid.org/0000-0001-5889-4463 Elevated imprint of posterior skull bones over the transverse sinuses https://orcid.org/0000-0001-5889-4463 Thinning and bulging of occipital bone over the transverse sinuses https://orcid.org/0000-0001-5889-4463 Thinning and bulging of posterior skull bones over the transverse sinuses https://orcid.org/0000-0001-5889-4463 UMLS:C4021788 UMLS:C4280608 Thinning and bulging of posterior fossa bones Thinning and bulging of posterior skull bones Thinning and bulging of occipital bone of skull human_phenotype HP:0000931 Thinning and bulging of the posterior fossa bones HP:0000931 Thinning and bulging of posterior skull bones https://orcid.org/0000-0001-5889-4463 Thinning and bulging of occipital bone of skull https://orcid.org/0000-0001-5889-4463 An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. HP:0007306 UMLS:C3280768 Abnormality of the posterior cranial fossa Abnormality of the posterior fossa Posterior fossa anomaly human_phenotype HP:0000932 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. Abnormal posterior cranial fossa morphology HP:0000932 An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. PMID:25970099 PMID:28295149 https://orcid.org/0000-0002-0736-9199 UMLS:C4025816 human_phenotype HP:0000933 Posterior fossa cyst at the fourth ventricle HP:0000933 Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . SNOMEDCT_US:201637001 SNOMEDCT_US:239832006 SNOMEDCT_US:239838005 UMLS:C0553730 Calcium deposits in joints human_phenotype HP:0000934 Chondrocalcinosis HP:0000934 Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . https://orcid.org/0009-0006-4530-3154 Calcium deposits in joints https://orcid.org/0000-0002-6548-5200 Abnormal thickening of the cortex of long bones. UMLS:C1840418 Broad cortex of long bones Cortical thickening of the long bones Thickened cortices of long bones human_phenotype HP:0000935 Thickened cortex of long bones HP:0000935 Abnormal thickening of the cortex of long bones. https://orcid.org/0000-0002-0736-9199 true HP:0000936 true HP:0000937 Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. HP:0002768 HP:0002799 HP:0002800 SNOMEDCT_US:312894000 SNOMEDCT_US:78441005 UMLS:C0029453 UMLS:C0747078 Generalised osteopenia Generalized osteopenia Osteopaenia human_phenotype HP:0000938 Osteopenia HP:0000938 Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. PMID:21234807 https://orcid.org/0000-0002-0736-9199 Generalised osteopenia Osteopaenia Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). HP:0002774 SNOMEDCT_US:64859006 UMLS:C0029456 human_phenotype HP:0000939 Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. Osteoporosis HP:0000939 Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). PMID:28293453 https://orcid.org/0000-0002-0736-9199 An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. HP:0006504 UMLS:C4021787 Abnormal shape of shaft of long bone Abnormality involving the diaphyses of the limbs Abnormality of shaft of long bone of the limbs Abnormality of the diaphyses Anomaly of the limb diaphyses Anomaly of the limb diaphyses morphology human_phenotype HP:0000940 Abnormal diaphysis morphology HP:0000940 An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. https://orcid.org/0000-0002-0736-9199 Abnormal shape of shaft of long bone https://orcid.org/0000-0001-5208-3432 Abnormality of shaft of long bone of the limbs https://orcid.org/0000-0001-5208-3432 UMLS:C4025815 Short shaft of long bone human_phenotype HP:0000941 Short diaphyses HP:0000941 Short shaft of long bone https://orcid.org/0000-0001-5208-3432 true HP:0000942 HP:0002760 SNOMEDCT_US:254069004 SNOMEDCT_US:65327002 UMLS:C0086795 human_phenotype HP:0000943 Dysostosis multiplex HP:0000943 An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. HP:0006506 UMLS:C4025814 Abnormality of the wide portion of a long bone human_phenotype HP:0000944 Abnormal metaphysis morphology HP:0000944 An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. https://orcid.org/0000-0002-0736-9199 Abnormality of the wide portion of a long bone https://orcid.org/0000-0001-5208-3432 true HP:0000945 Underdevelopment of the ilium. HP:0003176 HP:0003178 Small wings of the pelvic girdle UMLS:C1861218 UMLS:C4280607 Short and small iliac bones Small iliac bones human_phenotype HP:0000946 Hypoplastic ilia HP:0000946 Underdevelopment of the ilium. https://orcid.org/0000-0002-0736-9199 Small wings of the pelvic girdle https://orcid.org/0000-0001-5208-3432 An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. HP:0005061 HP:0005071 HP:0005075 UMLS:C2749582 Dumbbell widening of long bone metaphyses Dumbbell-shaped long bone human_phenotype HP:0000947 Dumbbell-shaped long bone HP:0000947 An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. https://orcid.org/0000-0002-0736-9199 Dumbbell-shaped long bone true HP:0000948 true HP:0000949 true HP:0000950 An abnormality of the skin. HP:0001478 HP:0001479 HP:0005591 HP:0006736 HP:0007415 HP:0007580 SNOMEDCT_US:199879009 SNOMEDCT_US:95320005 UMLS:C0037268 UMLS:C0037274 Abnormality of the skin Dermatopathy Dermopathy human_phenotype Skin abnormality HP:0000951 Abnormality of the skin HP:0000951 An abnormality of the skin. https://orcid.org/0000-0002-0736-9199 Abnormality of the skin Dermatopathy https://orcid.org/0000-0002-5316-1399 Dermopathy https://orcid.org/0000-0002-5316-1399 Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. SNOMEDCT_US:18165001 UMLS:C0022346 Icterus Jaundice Yellow skin Yellowing of the skin human_phenotype HP:0000952 Jaundice HP:0000952 Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. https://orcid.org/0000-0002-0736-9199 Icterus https://orcid.org/0000-0001-6908-9849 Jaundice Yellow skin https://orcid.org/0000-0001-6908-9849 Yellowing of the skin https://orcid.org/0000-0001-6908-9849 A darkening of the skin related to an increase in melanin production and deposition. HP:0007527 SNOMEDCT_US:4830009 SNOMEDCT_US:49765009 UMLS:C0162834 Cutaneous hyperpigmentation Hyperpigmented lesion Increased skin pigmentation Patchy darkened skin Skin hyperpigmentation human_phenotype Melanoderma Melanodermia HP:0000953 Hyperpigmentation of the skin HP:0000953 A darkening of the skin related to an increase in melanin production and deposition. https://orcid.org/0000-0002-0736-9199 Hyperpigmented lesion https://orcid.org/0000-0001-5208-3432 Patchy darkened skin The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. HP:0006214 SNOMEDCT_US:248409006 UMLS:C0424731 Simian crease Simian creases Simian line Single flexion crease Single palmar crease Single palmar creases Single transverse palmar creases Transverse palmar crease human_phenotype HP:0000954 The presence of a single palmar crease (instead of the two palmar creases that are typically present). Single transverse palmar crease HP:0000954 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Simian line https://orcid.org/0000-0001-6908-9849 true HP:0000955 A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. HP:0007498 HP:0007518 HP:0007591 SNOMEDCT_US:402599005 SNOMEDCT_US:72129000 UMLS:C0000889 Darkened and thickened skin Keratosis nigricans human_phenotype HP:0000956 Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. Acanthosis nigricans HP:0000956 A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. PMID:19061584 https://orcid.org/0000-0003-1773-4011 Darkened and thickened skin https://orcid.org/0000-0001-5208-3432 Keratosis nigricans https://orcid.org/0000-0001-6908-9849 Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. HP:0005601 HP:0007454 Birthmark Flat light-brown mark on skin SNOMEDCT_US:201281002 SNOMEDCT_US:51089004 UMLS:C0221263 UMLS:C0265974 Cafe au lait spots Cafe-au-lait macule Cafe-au-lait macules human_phenotype Cafe-au-lait spots HP:0000957 The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. Cafe-au-lait spot HP:0000957 Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. https://orcid.org/0000-0002-0736-9199 Birthmark https://orcid.org/0000-0001-6908-9849 Flat light-brown mark on skin Cafe-au-lait macule https://orcid.org/0000-0001-6908-9849 Cafe-au-lait spots https://orcid.org/0000-0002-5316-1399 Skin characterized by the lack of natural or normal moisture. MEDDRA:10048222 SNOMEDCT_US:16386004 UMLS:C0151908 UMLS:C0259817 Dry skin Xerosis human_phenotype HP:0000958 Dry skin HP:0000958 Skin characterized by the lack of natural or normal moisture. https://orcid.org/0000-0002-0736-9199 MEDDRA:10048222 Xerosis Dry skin true HP:0000959 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. SNOMEDCT_US:249729002 SNOMEDCT_US:311897005 UMLS:C0426848 Pilonidal dimple Spinal dimple human_phenotype HP:0000960 Sacral dimple HP:0000960 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. PMID:28245993 https://orcid.org/0000-0002-0736-9199 Spinal dimple https://en.wikipedia.org/wiki/sacral_dimple https://orcid.org/0000-0001-6908-9849 Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. SNOMEDCT_US:119419001 SNOMEDCT_US:3415004 UMLS:C0010520 Blue discoloration of the skin human_phenotype HP:0000961 Cyanosis HP:0000961 Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. PMID:25658213 Blue discoloration of the skin https://orcid.org/0000-0002-6548-5200 Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. HP:0007523 HP:0007543 MEDDRA:10020649 SNOMEDCT_US:26996000 SNOMEDCT_US:396228006 SNOMEDCT_US:399955009 UMLS:C0870082 Epidermal hyperkeratosis human_phenotype HP:0000962 Hyperkeratosis HP:0000962 Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. PMID:32965877 https://orcid.org/0000-0002-0736-9199 MEDDRA:10020649 Hyperkeratosis Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. HP:0001020 SNOMEDCT_US:277797007 UMLS:C0423757 Thin skin human_phenotype HP:0000963 Thin skin HP:0000963 Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. https://orcid.org/0000-0002-0736-9199 Thin skin Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. HP:0000976 HP:0001481 SNOMEDCT_US:281104002 SNOMEDCT_US:43116000 UMLS:C0013595 Eczema human_phenotype Dermatitis HP:0000964 The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. Eczematoid dermatitis HP:0000964 Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. PMID:32412211 https://orcid.org/0000-0002-0736-9199 Eczema A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. HP:0001037 UMLS:C0263401 human_phenotype HP:0000965 Cutis marmorata HP:0000965 A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. https://orcid.org/0009-0006-4530-3154 Abnormally diminished capacity to sweat. HP:0007551 HP:0007571 MEDDRA:10021013 SNOMEDCT_US:45004005 UMLS:C0020620 Decreased ability to sweat Decreased sweating Impaired sweating Inadequate sweating Oligohidrosis Sweating, decreased human_phenotype HP:0000966 Hypohidrosis HP:0000966 Abnormally diminished capacity to sweat. https://orcid.org/0000-0002-0736-9199 MEDDRA:10021013 Hypohidrosis Decreased ability to sweat Decreased sweating Inadequate sweating https://orcid.org/0000-0001-6908-9849 Sweating, decreased Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. MEDDRA:10034754 SNOMEDCT_US:271813007 SNOMEDCT_US:50091001 UMLS:C0031256 human_phenotype HP:0000967 Petechiae HP:0000967 Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. PMID:29493956 https://orcid.org/0000-0002-0736-9199 MEDDRA:10034754 Petechiae Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. HP:0007436 HP:0007615 SNOMEDCT_US:254154003 SNOMEDCT_US:8654005 UMLS:C0013575 human_phenotype HP:0000968 This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. Ectodermal dysplasia HP:0000968 Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. https://orcid.org/0000-0002-0736-9199 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0000990 Soft tissue swelling SNOMEDCT_US:20741006 SNOMEDCT_US:267038008 SNOMEDCT_US:423666004 SNOMEDCT_US:79654002 UMLS:C0013604 Dropsy Fluid retention Hydrops Oedema Water retention human_phenotype HP:0000969 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. Edema HP:0000969 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. https://orcid.org/0000-0002-0736-9199 Dropsy https://orcid.org/0000-0001-6908-9849 Fluid retention Water retention Inability to sweat. MEDDRA:10002512 SNOMEDCT_US:14662005 SNOMEDCT_US:39659002 UMLS:C0003028 Anhydrosis Lack of sweating Sudomotor dysfunction Sweating dysfunction human_phenotype HP:0000970 Anhidrosis HP:0000970 Inability to sweat. https://orcid.org/0000-0002-0736-9199 MEDDRA:10002512 Anhidrosis Lack of sweating http://www.medicalnewstoday.com/articles/266427.php https://orcid.org/0000-0001-5208-3432 Sudomotor dysfunction http://www.medicalnewstoday.com/articles/266427.php https://orcid.org/0000-0001-5208-3432 Sweating dysfunction http://www.medicalnewstoday.com/articles/266427.php https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the sweat gland. SNOMEDCT_US:88232005 UMLS:C0038986 UMLS:C0262643 UMLS:C4020881 Abnormality of the sweat gland human_phenotype Abnormalities of sweating Sweat gland disease HP:0000971 Abnormal sweat gland morphology HP:0000971 Any structural abnormality of the sweat gland. https://orcid.org/0000-0002-0736-9199 Abnormality of the sweat gland Abnormalities of sweating https://orcid.org/0000-0002-5316-1399 Sweat gland disease Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. HP:0007548 SNOMEDCT_US:706885006 UMLS:C0022596 Hyperkeratosis of palms and soles Hyperkeratosis of the palms and soles Palmoplantar keratoses Palmoplantar keratosis Thick palms and soles Thickened palms and soles Thickening of the outer layer of the skin of the palms and soles human_phenotype HP:0000972 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. Palmoplantar hyperkeratosis HP:0000972 Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. https://orcid.org/0000-0002-0736-9199 Thickening of the outer layer of the skin of the palms and soles Wrinkled, redundant, inelastic and sagging skin. Hanging skin SNOMEDCT_US:58588007 UMLS:C0010495 UMLS:C2930812 UMLS:C4280606 Chalazoderma Cutaneous laxity Dermatochalasia Dermatomegaly Elastolysis Generalised elastolysis Generalized elastolysis Hypoelastic skin Inelastic skin Lax skin Loose and inelastic skin Loose skin Skin laxity human_phenotype HP:0000973 Cutis laxa HP:0000973 Wrinkled, redundant, inelastic and sagging skin. https://orcid.org/0000-0002-0736-9199 Hanging skin https://orcid.org/0000-0001-6908-9849 Chalazoderma https://en.wikipedia.org/wiki/cutis_laxa https://orcid.org/0000-0001-6908-9849 Dermatochalasia https://en.wikipedia.org/wiki/cutis_laxa https://orcid.org/0000-0001-6908-9849 Dermatomegaly https://en.wikipedia.org/wiki/cutis_laxa https://orcid.org/0000-0001-6908-9849 Generalised elastolysis Generalized elastolysis https://en.wikipedia.org/wiki/cutis_laxa https://orcid.org/0000-0001-6908-9849 Inelastic skin https://orcid.org/0000-0001-6908-9849 Loose and inelastic skin https://orcid.org/0000-0002-6548-5200 A condition in which the skin can be stretched beyond normal, and then returns to its initial position. HP:0007389 HP:0007493 HP:0007578 UMLS:C0241074 Hyperelastic skin Skin hyperelasticity Skin hyperextensibility Stretchable skin human_phenotype HP:0000974 Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. Hyperextensible skin HP:0000974 A condition in which the skin can be stretched beyond normal, and then returns to its initial position. https://orcid.org/0009-0006-4530-3154 Hyperelastic skin Skin hyperelasticity Stretchable skin Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. HP:0001011 HP:0001064 HP:0007424 MEDDRA:10020642 SNOMEDCT_US:161857006 SNOMEDCT_US:312230002 SNOMEDCT_US:364538006 SNOMEDCT_US:415690000 SNOMEDCT_US:415691001 SNOMEDCT_US:52613005 UMLS:C0020458 UMLS:C0038990 UMLS:C0700590 Diaphoresis Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased human_phenotype HP:0000975 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. Hyperhidrosis HP:0000975 Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. https://orcid.org/0000-0002-0736-9199 MEDDRA:10020642 Hyperhidrosis Excessive sweating https://orcid.org/0000-0001-5208-3432 Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased HP:0000964 human_phenotype HP:0000976 obsolete Eczematoid dermatitis true HP:0000976 Subjective impression of increased softness upon palpation of the skin. UMLS:C0241178 UMLS:C1844592 Soft skin human_phenotype Velvety skin Velvety skin texture HP:0000977 Soft skin HP:0000977 Subjective impression of increased softness upon palpation of the skin. https://orcid.org/0000-0002-0736-9199 Soft skin Velvety skin Velvety skin texture https://orcid.org/0000-0002-5316-1399 An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. HP:0000959 HP:0007433 HP:0007472 SNOMEDCT_US:302227002 SNOMEDCT_US:424131007 SNOMEDCT_US:425075004 SNOMEDCT_US:77643000 UMLS:C0013491 UMLS:C0423798 Bruisability Bruise easily Bruising susceptibility Easy bruisability Easy bruising human_phenotype HP:0000978 An ecchymosis is defined as being larger than 1 cm in size. Bruising susceptibility HP:0000978 An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. https://orcid.org/0000-0002-0736-9199 Bruise easily https://orcid.org/0000-0001-6908-9849 Bruising susceptibility Easy bruisability Easy bruising Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Blood spots SNOMEDCT_US:12393003 SNOMEDCT_US:387778001 SNOMEDCT_US:423902002 UMLS:C0034150 Red or purple spots on the skin human_phenotype HP:0000979 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). Purpura HP:0000979 Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. PMID:11515831 https://orcid.org/0000-0002-0736-9199 Blood spots https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Red or purple spots on the skin https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Abnormally pale skin. SNOMEDCT_US:398979000 UMLS:C0030232 human_phenotype Paleness Skin paleness HP:0000980 Pallor HP:0000980 Abnormally pale skin. https://orcid.org/0000-0002-0736-9199 Paleness Skin paleness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0000981 Abnormal thickening of the skin of the palms of the hands and the soles of the feet. SNOMEDCT_US:706885006 UMLS:C0022596 Keratoderma Palmar and plantar keratoderma Thickening of palms and soles human_phenotype HP:0000982 Palmoplantar keratoderma HP:0000982 Abnormal thickening of the skin of the palms of the hands and the soles of the feet. https://orcid.org/0000-0002-0736-9199 Thickening of palms and soles true HP:0000983 true HP:0000984 true HP:0000985 true HP:0000986 Atypically scarred skin . UMLS:C4021786 Atypical scarring Atypical scarring of skin human_phenotype HP:0000987 Atypical scarring of skin HP:0000987 Atypically scarred skin . https://orcid.org/0009-0006-4530-3154 Atypical scarring Atypical scarring of skin A red eruption of the skin. Rash MEDDRA:10037844 SNOMEDCT_US:112625008 SNOMEDCT_US:271807003 UMLS:C0015230 Skin rash human_phenotype HP:0000988 Skin rash HP:0000988 A red eruption of the skin. https://orcid.org/0000-0002-0736-9199 Rash MEDDRA:10037844 Rash Skin rash Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. SNOMEDCT_US:279333002 SNOMEDCT_US:418290006 SNOMEDCT_US:418363000 SNOMEDCT_US:424492005 UMLS:C0033774 Itching Itchy skin Skin itching human_phenotype HP:0000989 Pruritus HP:0000989 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. https://orcid.org/0000-0002-0736-9199 Itching Itchy skin https://orcid.org/0000-0001-6908-9849 Skin itching true HP:0000990 The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. SNOMEDCT_US:63103006 UMLS:C0043325 Xanthomata Yellow bumps of fatty deposits on skin human_phenotype HP:0000991 Xanthomatosis HP:0000991 The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. https://orcid.org/0000-0002-0736-9199 Yellow bumps of fatty deposits on skin https://orcid.org/0000-0002-6548-5200 An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. HP:0005594 HP:0006831 HP:0007538 SNOMEDCT_US:90128006 UMLS:C0349506 Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity human_phenotype HP:0000992 Cutaneous photosensitivity HP:0000992 An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. https://orcid.org/0000-0002-0736-9199 Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. UMLS:C1844597 Molluscoid pseudotumor human_phenotype HP:0000993 Molluscoid pseudotumors HP:0000993 Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. https://orcid.org/0000-0002-0736-9199 true HP:0000994 A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Noncancerous mole SNOMEDCT_US:21119008 SNOMEDCT_US:400096001 UMLS:C0027962 UMLS:C4280269 Beauty mark Melanocytic naevus Melanocytic nevi Nevocellular nevi Pigmented naevi Pigmented nevi human_phenotype HP:0000995 Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. Melanocytic nevus HP:0000995 A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. https://orcid.org/0000-0002-0736-9199 Noncancerous mole https://orcid.org/0000-0001-5208-3432 Beauty mark https://orcid.org/0000-0001-6908-9849 Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. UMLS:C1858545 human_phenotype HP:0000996 Facial capillary hemangioma HP:0000996 The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. UMLS:C1860335 human_phenotype HP:0000997 Axillary freckling HP:0000997 The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. PMID:12186179 Hypertrichosis is increased hair growth that is abnormal in quantity or location. Excessive hair growth Increased hair growth on body SNOMEDCT_US:271607001 SNOMEDCT_US:29966009 UMLS:C0020555 human_phenotype HP:0000998 Hypertrichosis HP:0000998 Hypertrichosis is increased hair growth that is abnormal in quantity or location. https://orcid.org/0000-0002-0736-9199 Excessive hair growth https://orcid.org/0000-0001-5208-3432 Increased hair growth on body https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Any manifestation of a skin disease associated with the production of pus. SNOMEDCT_US:70759006 UMLS:C0034212 Pus-filled lesion human_phenotype HP:0000999 Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. Pyoderma HP:0000999 Any manifestation of a skin disease associated with the production of pus. https://orcid.org/0000-0002-0736-9199 Pus-filled lesion https://orcid.org/0000-0001-6908-9849 An abnormality of the pigmentation of the skin. HP:0005587 HP:0007582 HP:0200045 UMLS:C1260926 Abnormal pigmentation Abnormal skin pigmentation Abnormality of pigmentation Abnormality of skin pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly human_phenotype HP:0001000 Abnormal skin pigmentation HP:0001000 An abnormality of the pigmentation of the skin. https://orcid.org/0000-0002-0736-9199 Abnormal pigmentation Abnormal skin pigmentation https://orcid.org/0000-0002-5316-1399 Abnormality of pigmentation Abnormality of skin pigmentation Pigmentary changes Pigmentary skin changes Pigmentation anomaly UMLS:C4025813 Abnormality of fatty tissue below the skin human_phenotype HP:0001001 Abnormality of subcutaneous fat tissue HP:0001001 Abnormality of fatty tissue below the skin https://orcid.org/0000-0001-5208-3432 HP:0003758 human_phenotype HP:0001002 obsolete Decreased subcutaneous fat true HP:0001002 Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. SNOMEDCT_US:72100002 UMLS:C0036651 UMLS:C1328931 Liver spots human_phenotype HP:0001003 Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. Multiple lentigines HP:0001003 Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. https://orcid.org/0000-0002-0736-9199 Liver spots https://orcid.org/0000-0001-6908-9849 Localized fluid retention and tissue swelling caused by a compromised lymphatic system. HP:0003605 SNOMEDCT_US:234097001 SNOMEDCT_US:30213001 UMLS:C0024236 UMLS:C0240278 UMLS:C1835229 Lymphatic obstruction Lymphoedema Onset of lymphedema around puberty Swelling caused by excess lymph fluid under skin human_phenotype HP:0001004 Lymphedema HP:0001004 Localized fluid retention and tissue swelling caused by a compromised lymphatic system. https://orcid.org/0009-0006-4530-3154 Lymphatic obstruction https://orcid.org/0000-0001-6908-9849 Swelling caused by excess lymph fluid under skin https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 UMLS:C4025812 human_phenotype HP:0001005 Dermatological manifestations of systemic disorders HP:0001005 HP:0008070 human_phenotype HP:0001006 obsolete Hypotrichosis true HP:0001006 Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). SNOMEDCT_US:399939002 UMLS:C0019572 Excessive hairiness human_phenotype HP:0001007 Hirsutism HP:0001007 Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). https://orcid.org/0009-0006-4530-3154 Excessive hairiness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 UMLS:C1843389 human_phenotype HP:0001008 Accumulation of melanosomes in melanocytes HP:0001008 Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. HP:0001079 SNOMEDCT_US:112641009 SNOMEDCT_US:247479008 UMLS:C0039446 UMLS:C1138421 Telangiectases human_phenotype Spider veins HP:0001009 Telangiectasia HP:0001009 Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. https://orcid.org/0000-0002-0736-9199 Spider veins https://orcid.org/0000-0001-6908-9849 A reduction of skin color related to a decrease in melanin production and deposition. HP:0005589 HP:0007604 HP:0007622 SNOMEDCT_US:18655006 SNOMEDCT_US:201284005 SNOMEDCT_US:23006000 SNOMEDCT_US:89031001 UMLS:C0162835 Hypopigmentation Hypopigmented skin Patchy lightened skin human_phenotype Skin hypopigmentation HP:0001010 Hypopigmentation of the skin HP:0001010 A reduction of skin color related to a decrease in melanin production and deposition. https://orcid.org/0000-0002-0736-9199 Patchy lightened skin HP:0000975 human_phenotype HP:0001011 obsolete Diaphoresis (with pheochromocytoma) true HP:0001011 The presence of multiple lipomas (a type of benign tissue made of fatty tissue). NCIT:C3192 SNOMEDCT_US:404062002 SNOMEDCT_US:46720004 SNOMEDCT_US:93163002 UMLS:C0023798 UMLS:C0745730 Lipomata Multiple fatty lumps human_phenotype Lipomas Lipomatosis HP:0001012 A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. Multiple lipomas HP:0001012 The presence of multiple lipomas (a type of benign tissue made of fatty tissue). https://orcid.org/0009-0006-4530-3154 Multiple fatty lumps https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. SNOMEDCT_US:238952003 UMLS:C0221252 human_phenotype HP:0001013 Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. Eruptive xanthomas HP:0001013 Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. PMID:12165227 PMID:22375975 Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. SNOMEDCT_US:26810009 UMLS:C0002985 Angiokeratomas human_phenotype HP:0001014 Angiokeratomas occur clinically as 1 of 5 different subtypes. Angiokeratoma HP:0001014 Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot. PMID:8993949 https://orcid.org/0000-0002-0736-9199 A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. UMLS:C1837785 Marked subcutaneous veins Prominent veins human_phenotype HP:0001015 See Figure 4 of PMID:24456199 Prominent superficial veins HP:0001015 Prominent veins https://orcid.org/0000-0001-6908-9849 true HP:0001016 A type of pallor that is secondary to the presence of anemia. UMLS:C4025811 Anaemic pallor human_phenotype HP:0001017 Anemic pallor HP:0001017 A type of pallor that is secondary to the presence of anemia. https://orcid.org/0000-0002-0736-9199 Anaemic pallor An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. UMLS:C4025810 human_phenotype HP:0001018 Abnormal palmar dermatoglyphics HP:0001018 An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. https://orcid.org/0000-0002-0736-9199 An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Red scaly skin caused by inflammatory skin disease SNOMEDCT_US:200948000 SNOMEDCT_US:396349005 SNOMEDCT_US:396350005 SNOMEDCT_US:399992009 SNOMEDCT_US:400005007 UMLS:C0011606 Exfoliative dermititis Generalised erythroderma Generalised erythrodermia Generalized erythroderma Generalized erythrodermia human_phenotype HP:0001019 Erythroderma can occur at any age. Erythroderma with a congenital or neonatal onset has a different differential diagnosis than adult-onset erythroderma. Several skin disorders may culminate with erythroderma: seborrheic dermatitis/sarcoidosis; contact (allergic or irritant) dermatitis (eg, stasis dermatitis with generalization); atopic dermatitis/autoimmune disease (systemic lupus/dermatomyositis/bullous pemphigoid/pemphigus foliaceus/lichen planus/graft-versus-host disease); lymphoma/leukemia (including Sézary syndrome); psoriasis, including Reiter syndrome/pityriasis rubra pilaris (PRP); infections (human immunodeficiency virus, dermatophytosis), ichthyoses, infestations (Norwegian scabies); drug reactions. Some cases are also associated with erosions (loss of epidermis with an epidermal base), crusting (serous, sanguineous, or pustular), and the potential for hair and nail changes. Exfoliative dermatitis and erythroderma (the preferred term) have been used synonymously in the literature. Erythroderma HP:0001019 An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. PMID:11606915 PMID:25710899 PMID:25882661 PMID:32555205 PMID:35238435 https://orcid.org/0000-0002-0736-9199 Red scaly skin caused by inflammatory skin disease https://orcid.org/0000-0002-6548-5200 Exfoliative dermititis https://orcid.org/0000-0001-6908-9849 Generalised erythroderma Generalised erythrodermia true HP:0001020 true HP:0001021 An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). SNOMEDCT_US:15890002 SNOMEDCT_US:18064000 UMLS:C0001916 UMLS:C0333913 Achromasia Albinism human_phenotype HP:0001022 Albinism HP:0001022 An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). https://orcid.org/0009-0006-4530-3154 Achromasia https://orcid.org/0000-0001-6908-9849 Albinism true HP:0001023 UMLS:C1855815 human_phenotype HP:0001024 Skin dimple over apex of long bone angulation HP:0001024 Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. MEDDRA:10046735 SNOMEDCT_US:126485001 SNOMEDCT_US:247472004 SNOMEDCT_US:64305001 UMLS:C0042109 Hives human_phenotype HP:0001025 Urticaria HP:0001025 Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. https://orcid.org/0000-0002-0736-9199 MEDDRA:10046735 Urticaria Hives UMLS:C4025809 Penetrating foot ulcers human_phenotype HP:0001026 Penetrating foot ulcers HP:0001026 Penetrating foot ulcers A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. UMLS:C1849043 Soft, doughy skin human_phenotype HP:0001027 Soft, doughy skin HP:0001027 Soft, doughy skin A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). HP:0007444 NCIT:C3085 SNOMEDCT_US:2099007 SNOMEDCT_US:253053003 SNOMEDCT_US:400210000 UMLS:C0018916 Strawberry mark human_phenotype Hemangiomata HP:0001028 Hemangioma HP:0001028 A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). https://orcid.org/0000-0002-0736-9199 Strawberry mark https://orcid.org/0000-0001-6908-9849 Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. MEDDRA:10057041 SNOMEDCT_US:402685001 SNOMEDCT_US:70114006 UMLS:C0392777 human_phenotype HP:0001029 Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. See Figure 2 of PMID:32363096. Poikiloderma HP:0001029 Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. PMID:32363096 https://orcid.org/0000-0002-0736-9199 MEDDRA:10057041 Poikiloderma Skin that splits easily with minimal injury. MEDDRA:10040851 SNOMEDCT_US:247427007 UMLS:C0241181 Fragile skin Skin fragility human_phenotype HP:0001030 Fragile skin HP:0001030 Skin that splits easily with minimal injury. https://orcid.org/0000-0002-0736-9199 MEDDRA:10040851 Skin fragility Fragile skin Skin fragility The presence of subcutaneous lipoma. NCIT:C3192 UMLS:C1403035 human_phenotype HP:0001031 Subcutaneous lipoma HP:0001031 The presence of subcutaneous lipoma. https://orcid.org/0000-0002-0736-9199 Absence of the distal interphalangeal flexion creases of the fingers. UMLS:C1861349 Absence of skin creases over distal interphalangeal joints Aplasia of the distal interphalangeal creases Distal finger flexion creases absent human_phenotype HP:0001032 Absent distal interphalangeal creases HP:0001032 Absence of the distal interphalangeal flexion creases of the fingers. https://orcid.org/0000-0002-0736-9199 UMLS:C4025808 Facial flushing after alcohol intake human_phenotype HP:0001033 Facial flushing after alcohol intake HP:0001033 Facial flushing after alcohol intake A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. HP:0007442 HP:0007491 HP:0007492 HP:0100815 HP:0200031 HP:0200033 UMLS:C1842774 Hyperpigmented macules Hyperpigmented spots human_phenotype Hyperpigmented skin patches HP:0001034 Hypermelanotic macule HP:0001034 A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. https://orcid.org/0000-0003-1773-4011 Hyperpigmented spots Hyperpigmented skin patches true HP:0001035 Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. SNOMEDCT_US:200766001 SNOMEDCT_US:65068000 UMLS:C0030436 human_phenotype HP:0001036 Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. Parakeratosis HP:0001036 Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. https://orcid.org/0000-0002-0736-9199 true HP:0001037 UMLS:C1867638 human_phenotype HP:0001038 Warfarin-induced skin necrosis HP:0001038 UMLS:C4025807 human_phenotype HP:0001039 Atheroeruptive xanthoma HP:0001039 UMLS:C1867448 human_phenotype HP:0001040 Multiple pterygia HP:0001040 Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. HP:0001068 SNOMEDCT_US:20255002 SNOMEDCT_US:271811009 SNOMEDCT_US:398909004 UMLS:C0005874 UMLS:C0035854 UMLS:C0239488 UMLS:C4020880 Blushed cheeks Blushing Red face Red in the face Rosacea human_phenotype Ruddy face HP:0001041 Facial erythema HP:0001041 Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. https://orcid.org/0000-0002-0736-9199 Blushed cheeks Blushing https://orcid.org/0000-0001-6908-9849 Red face Red in the face Rosacea https://orcid.org/0000-0001-6908-9849 Ruddy face UMLS:C4025806 human_phenotype HP:0001042 High axial triradius HP:0001042 UMLS:C1856542 Prominent scalp veins human_phenotype HP:0001043 Prominent scalp veins HP:0001043 Prominent scalp veins true HP:0001044 SNOMEDCT_US:56727007 UMLS:C0042900 Blotchy loss of skin color Blotchy loss of skin colour human_phenotype HP:0001045 Vitiligo HP:0001045 Blotchy loss of skin color https://orcid.org/0000-0001-6908-9849 Blotchy loss of skin colour Jaundice that is sometimes present, sometimes not. UMLS:C4025805 Intermittent icterus Intermittent yellow skin Intermittent yellowing of skin human_phenotype HP:0001046 Intermittent jaundice HP:0001046 Jaundice that is sometimes present, sometimes not. https://orcid.org/0000-0002-0736-9199 Intermittent icterus https://orcid.org/0000-0001-6908-9849 Intermittent yellow skin https://orcid.org/0000-0001-6908-9849 Intermittent yellowing of skin https://orcid.org/0000-0001-6908-9849 Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. HP:0007533 HP:0007564 SNOMEDCT_US:200775004 SNOMEDCT_US:24079001 UMLS:C0011615 UMLS:C4280605 Allergic eczema Atopic dermatitis, chronic Atopic eczema Dermatitis, Atopic Infantile eczema Neurodermatitis Prurigo Besnier human_phenotype Baby eczema HP:0001047 In infants, atopic dermatitis is known as infantile eczema. Atopic dermatitis HP:0001047 Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. PMID:27904186 https://orcid.org/0000-0002-0736-9199 Baby eczema https://orcid.org/0000-0001-6908-9849 The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. MEDDRA:10055899 NCIT:C3086 SNOMEDCT_US:33377007 SNOMEDCT_US:416824008 SNOMEDCT_US:56975005 UMLS:C0018920 Cavernous angioma Cavernous haemangioma Collection of dilated blood vessels that forms mass human_phenotype HP:0001048 Cavernous hemangioma HP:0001048 The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. https://orcid.org/0000-0002-0736-9199 MEDDRA:10055899 Haemangioma cavernous Cavernous angioma https://orcid.org/0000-0001-6908-9849 Collection of dilated blood vessels that forms mass https://orcid.org/0000-0002-6548-5200 UMLS:C1861400 human_phenotype HP:0001049 Absent dorsal skin creases over affected joints HP:0001049 SNOMEDCT_US:75246004 UMLS:C0232370 human_phenotype HP:0001050 Related to polycythemia. Plethora HP:0001050 Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. HP:0007562 SNOMEDCT_US:50563003 SNOMEDCT_US:86708008 UMLS:C0036508 UMLS:C3806554 Seborrhea Seborrheic eczema human_phenotype Dysseborrheic dermatitis HP:0001051 Dandruff. Seborrheic dermatitis HP:0001051 Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. https://orcid.org/0000-0002-0736-9199 A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. MEDDRA:10067193 SNOMEDCT_US:254211001 SNOMEDCT_US:416377005 UMLS:C0235752 Nevus simplex port-wine stain human_phenotype HP:0001052 Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions. Nevus flammeus HP:0001052 A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. PMID:22483320 https://orcid.org/0009-0006-4530-3154 MEDDRA:10067193 Naevus flammeus Nevus simplex https://orcid.org/0000-0001-6908-9849 port-wine stain https://orcid.org/0000-0002-5316-1399 UMLS:C1836735 Patchy loss of skin color Patchy loss of skin colour human_phenotype HP:0001053 Hypopigmented skin patches HP:0001053 Patchy loss of skin color https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Patchy loss of skin colour UMLS:C1849677 Multiple pigmented nevi Numerous moles human_phenotype HP:0001054 Numerous nevi HP:0001054 Numerous moles https://orcid.org/0000-0001-6908-9849 Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. MEDDRA:10015145 SNOMEDCT_US:44653001 SNOMEDCT_US:51510002 UMLS:C0014714 UMLS:C0014733 human_phenotype St. Anthony's Fire HP:0001055 Erysipelas HP:0001055 Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. https://orcid.org/0000-0002-0736-9199 MEDDRA:10015145 Erysipelas Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. SNOMEDCT_US:254679001 SNOMEDCT_US:254683001 SNOMEDCT_US:37719003 UMLS:C0345996 Milk spot Millium cyst human_phenotype HP:0001056 Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. Milia HP:0001056 Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. https://orcid.org/0000-0002-0736-9199 Milk spot https://orcid.org/0000-0001-6908-9849 Millium cyst https://orcid.org/0000-0001-6908-9849 A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Congenital scars MEDDRA:10002963 SNOMEDCT_US:254237003 SNOMEDCT_US:35484002 SNOMEDCT_US:74223008 UMLS:C0265989 UMLS:C0282160 Absence of part of skin at birth Congenital absence of skin Cutis aplasia human_phenotype HP:0001057 Aplasia cutis congenita HP:0001057 A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. https://orcid.org/0000-0002-0736-9199 Congenital scars https://en.wikipedia.org/wiki/aplasia_cutis_congenita https://orcid.org/0000-0001-5208-3432 MEDDRA:10002963 Aplasia cutis congenita Absence of part of skin at birth https://orcid.org/0000-0002-6548-5200 Congenital absence of skin https://en.wikipedia.org/wiki/aplasia_cutis_congenita https://orcid.org/0000-0001-5208-3432 Cutis aplasia https://en.wikipedia.org/wiki/aplasia_cutis_congenita https://orcid.org/0000-0001-5208-3432 A reduced ability to heal cutaneous wounds. UMLS:C1851789 Poor wound healing human_phenotype HP:0001058 Poor wound healing HP:0001058 A reduced ability to heal cutaneous wounds. https://orcid.org/0000-0002-0736-9199 Poor wound healing Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. SNOMEDCT_US:77489003 UMLS:C0033999 Pterygia human_phenotype HP:0001059 Pterygium HP:0001059 Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. https://orcid.org/0000-0002-0736-9199 Pterygia Presence of a cutaneous membrane (flap) in the armpit. UMLS:C1844738 Axillary pterygia human_phenotype HP:0001060 Axillary pterygium HP:0001060 Axillary pterygia A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). HP:0005596 Breaking out MEDDRA:10000496 SNOMEDCT_US:11381005 UMLS:C0702166 Acne human_phenotype HP:0001061 Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule. Acne HP:0001061 A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). https://orcid.org/0000-0002-0736-9199 Breaking out MEDDRA:10000496 Acne Acne A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. SNOMEDCT_US:254818000 SNOMEDCT_US:61814002 UMLS:C0205748 Atypical mole human_phenotype Dysplastic Nevus HP:0001062 Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance. Atypical nevus HP:0001062 A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. https://orcid.org/0000-0002-0736-9199 Atypical mole https://orcid.org/0000-0001-6908-9849 Bluish discoloration of the skin of the hands or feet. SNOMEDCT_US:25003006 UMLS:C0221347 Persistent blue color of hands or feet Persistent blue colour of hands or feet human_phenotype HP:0001063 Cyanosis is caused by increased levels of deoxygenated hemoglobin. Acrocyanosis HP:0001063 Bluish discoloration of the skin of the hands or feet. PMID:32644593 Persistent blue color of hands or feet https://orcid.org/0000-0002-6548-5200 Persistent blue colour of hands or feet true HP:0001064 Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. HP:0001023 HP:0001066 HP:0100680 MEDDRA:10040925 SNOMEDCT_US:201066002 SNOMEDCT_US:201067006 SNOMEDCT_US:47212006 UMLS:C0152459 Purplish striae Stretch marks Striae Striae atrophicae Striae cutis distensae human_phenotype HP:0001065 Striae distensae HP:0001065 Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. https://orcid.org/0000-0002-0736-9199 MEDDRA:10040925 Skin striae Stretch marks true HP:0001066 A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. HP:0006746 HP:0007386 HP:0007612 HP:0009595 NCIT:C3272 SNOMEDCT_US:19133005 SNOMEDCT_US:81669005 UMLS:C0162678 Neurofibromata Neurofibromatosis human_phenotype multiple neurofibromas HP:0001067 Neurofibroma HP:0001067 A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas. PMID:30969529 https://orcid.org/0000-0002-0736-9199 true HP:0001068 Intermittent episodes of abnormally increased perspiration. UMLS:C1857171 Hyperhidrosis, episodic Sporadic excessive sweating human_phenotype HP:0001069 Episodic hyperhidrosis HP:0001069 Intermittent episodes of abnormally increased perspiration. https://orcid.org/0000-0002-0736-9199 Sporadic excessive sweating https://orcid.org/0000-0001-5208-3432 Patchy and irregular skin pigmentation. HP:0007584 UMLS:C0860439 UMLS:C4020879 Mottled skin coloring Mottled skin colouring human_phenotype Stippled pigmentation HP:0001070 Mottled pigmentation HP:0001070 Patchy and irregular skin pigmentation. https://orcid.org/0000-0002-0736-9199 Mottled skin coloring https://orcid.org/0000-0001-6908-9849 Mottled skin colouring Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation. SNOMEDCT_US:124464003 SNOMEDCT_US:16652001 UMLS:C0002986 Fabry syndrome human_phenotype HP:0001071 Angiokeratoma corporis diffusum (ACD) commonly occurs in Fabry disease and the term ACD was previously used synonymously with Fabry disease (OMIM:301500). However, ACD can also occur with other diseases related to deficiencies of enzymes that are involved in the metabolism of glycoproteins, including fucosidosis, sialidosis, mannosidosis, GM1 gangliosidosis, and Kanzaki disease. Angiokeratoma corporis diffusum HP:0001071 Fabry syndrome https://orcid.org/0000-0001-6908-9849 Laminar thickening of skin. HP:0007393 MEDDRA:10040936 SNOMEDCT_US:17417006 SNOMEDCT_US:69943009 UMLS:C0334008 UMLS:C4020878 Pachydermia Thick skin Thickened skin human_phenotype Diffusely thickened skin HP:0001072 Thickened skin HP:0001072 Laminar thickening of skin. https://orcid.org/0009-0006-4530-3154 MEDDRA:10040936 Skin thickening Thick skin Thickened skin Diffusely thickened skin Thin (atrophic) and wide scars. UMLS:C1851828 Cigarette paper scarring Cigarette-paper scars human_phenotype HP:0001073 Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. Cigarette-paper scars HP:0001073 Thin (atrophic) and wide scars. https://orcid.org/0000-0002-0736-9199 Cigarette paper scarring Cigarette-paper scars UMLS:C4021837 human_phenotype HP:0001074 Atypical nevi in non-sun exposed areas HP:0001074 Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. HP:0007567 SNOMEDCT_US:239172000 SNOMEDCT_US:409766009 UMLS:C0162154 Sunken or indented skin due to damage Thin, atrophic scars human_phenotype HP:0001075 Atrophic scars HP:0001075 Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. https://orcid.org/0000-0002-0736-9199 Sunken or indented skin due to damage https://orcid.org/0000-0002-6548-5200 UMLS:C1854408 Glabellar capillary hemangioma human_phenotype HP:0001076 Glabellar hemangioma HP:0001076 true HP:0001077 true HP:0001078 true HP:0001079 An abnormality of the biliary tree. SNOMEDCT_US:105997008 UMLS:C0005424 UMLS:C0549613 human_phenotype Biliary tract disease HP:0001080 Biliary tract abnormality HP:0001080 An abnormality of the biliary tree. https://orcid.org/0000-0002-0736-9199 Hard, pebble-like deposits that form within the gallbladder. SNOMEDCT_US:266474003 UMLS:C0008350 Gallstones human_phenotype HP:0001081 Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. Cholelithiasis HP:0001081 Hard, pebble-like deposits that form within the gallbladder. https://orcid.org/0000-0002-0736-9199 Gallstones The presence of inflammatory changes in the gallbladder. SNOMEDCT_US:76581006 UMLS:C0008325 Gallbladder inflammation Recurrent cholecystitis Unusual cholecystitis human_phenotype HP:0001082 Cholecystitis HP:0001082 The presence of inflammatory changes in the gallbladder. https://orcid.org/0000-0002-0736-9199 Gallbladder inflammation https://orcid.org/0000-0001-6908-9849 Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. HP:0000665 HP:0007637 HP:0007882 HP:0008016 SNOMEDCT_US:74969002 UMLS:C0013581 UMLS:C0023309 Abnormality of lens position Lens dislocation human_phenotype HP:0001083 Ectopia lentis HP:0001083 Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. https://orcid.org/0000-0002-0736-9199 A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. HP:0100741 SNOMEDCT_US:111522004 SNOMEDCT_US:231924000 SNOMEDCT_US:231925004 UMLS:C0003742 UMLS:C0339268 Anterior embryotoxon Arcus lipoidis Arcus senilis Corneal annulus Gerontoxon human_phenotype Arcus juvenilis HP:0001084 A gray opaque line which surrounds the margin of the cornea caused by lipid deposits. Corneal arcus HP:0001084 A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. https://orcid.org/0000-0002-0736-9199 Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. HP:0001130 SNOMEDCT_US:248487006 SNOMEDCT_US:423341008 SNOMEDCT_US:73221001 UMLS:C0030353 human_phenotype Papillitis HP:0001085 The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. Papilledema HP:0001085 Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. https://orcid.org/0000-0002-0736-9199 true HP:0001086 Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. SNOMEDCT_US:204113001 SNOMEDCT_US:413728006 UMLS:C0020302 Childhood glaucoma Infantile glaucoma Paediatric glaucoma Pediatric glaucoma human_phenotype HP:0001087 Developmental glaucoma HP:0001087 Childhood glaucoma https://orcid.org/0000-0001-6908-9849 Infantile glaucoma https://orcid.org/0000-0001-6908-9849 Paediatric glaucoma Pediatric glaucoma https://orcid.org/0000-0001-6908-9849 The presence of whitish spots in a ring-like arrangement at the periphery of the iris. SNOMEDCT_US:400960002 UMLS:C1303007 UMLS:C4280604 Iris brushfield spots human_phenotype Speckled iris HP:0001088 Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). Brushfield spots HP:0001088 The presence of whitish spots in a ring-like arrangement at the periphery of the iris. https://orcid.org/0000-0002-0736-9199 Speckled iris https://orcid.org/0000-0001-6908-9849 Loss of iris tissue (atrophy) SNOMEDCT_US:95709007 UMLS:C0423319 Iris degeneration human_phenotype HP:0001089 Iris atrophy HP:0001089 Loss of iris tissue (atrophy) https://orcid.org/0000-0002-0736-9199 Iris degeneration https://orcid.org/0000-0001-5208-3432 Diffusely large eye (with megalocornea) without glaucoma. HP:0200093 SNOMEDCT_US:246920008 UMLS:C0423221 UMLS:C1855852 UMLS:C4280603 Increased size of eyes Large eyes Megalophthalmos human_phenotype Increased size of palpebral fissures Large eyeballs Large of palpebral fissures HP:0001090 Note that Increased size of palpebral fissues is not a synonym of this term. Abnormally large globe HP:0001090 Diffusely large eye (with megalocornea) without glaucoma. https://orcid.org/0000-0002-0736-9199 Increased size of eyes https://orcid.org/0000-0001-5889-4463 Large eyes Increased size of palpebral fissures https://orcid.org/0000-0001-5889-4463 Large eyeballs https://orcid.org/0000-0001-5889-4463 Large of palpebral fissures https://orcid.org/0000-0001-5889-4463 true HP:0001091 No identifiable superior and/or inferior lacrimal punctum. HP:0007977 SNOMEDCT_US:204208005 SNOMEDCT_US:253217007 UMLS:C0344509 UMLS:C1867060 Absent lacrimal gland puncta Absent lacrimal openings Absent lacrimal puncta Aplasia of lacrimal puncta Lacrimal puncta aplasia Lacrimal punctum, absence human_phenotype Agenesis of the lacrimal punctum HP:0001092 The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Absent lacrimal punctum HP:0001092 No identifiable superior and/or inferior lacrimal punctum. PMID:19125427 The presence of developmental dysplasia of the optic nerve. UMLS:C2676026 human_phenotype HP:0001093 Optic nerve dysplasia HP:0001093 The presence of developmental dysplasia of the optic nerve. https://orcid.org/0000-0002-0736-9199 A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. SNOMEDCT_US:77971008 UMLS:C0022073 human_phenotype HP:0001094 Iridocyclitis HP:0001094 A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. https://orcid.org/0000-0002-0736-9199 Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling. SNOMEDCT_US:6962006 UMLS:C0152132 human_phenotype HP:0001095 Hypertensive retinopathy HP:0001095 Condition of the retina, secondary to severe systemic arterial hypertension which can be acute or longstanding. Features include one or several of the following: retinal vascular tortuosity, arteriovenous crossing signs, retinal cotton wool spot and intraretinal hemorrhages. It can be associated with optic disc swelling. PMID:36196693 Inflammation of the cornea and conjunctiva. SNOMEDCT_US:88151007 UMLS:C0022573 human_phenotype HP:0001096 Keratoconjunctivitis HP:0001096 Inflammation of the cornea and conjunctiva. https://orcid.org/0000-0002-0736-9199 Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. SNOMEDCT_US:302896008 SNOMEDCT_US:363677007 SNOMEDCT_US:46152009 UMLS:C0013238 UMLS:C0022575 UMLS:C0043349 UMLS:C2930821 Dry eyes Keratitis sicca Xerophthalmia human_phenotype Dry eye syndrome HP:0001097 Keratoconjunctivitis sicca HP:0001097 Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. https://orcid.org/0000-0002-0736-9199 Dry eyes https://orcid.org/0000-0001-6908-9849 Dry eye syndrome Any structural abnormality of the fundus of the eye. UMLS:C4025804 Abnormality of the fundus human_phenotype HP:0001098 Abnormal fundus morphology HP:0001098 Well-defined or diffused area or lesion of loss of normal retinal tissue; this is often illustrated by greyish discoloration of fundus and/or better visible choroidal vasculature on funduscopy. UMLS:C2673929 Fundus atrophy human_phenotype HP:0001099 Atrophic fundus lesion HP:0001099 Heterochromia iridis is a difference in the color of the iris in the two eyes. SNOMEDCT_US:247033008 UMLS:C0423318 Different colored eyes Different coloured eyes Heterochromia irides human_phenotype HP:0001100 Heterochromia iridis HP:0001100 Heterochromia iridis is a difference in the color of the iris in the two eyes. https://orcid.org/0000-0002-0736-9199 Different colored eyes https://orcid.org/0000-0001-6908-9849 Different coloured eyes Inflammation of the iris. SNOMEDCT_US:65074000 UMLS:C0022081 Inflammation of iris human_phenotype HP:0001101 Iritis HP:0001101 Inflammation of the iris. https://orcid.org/0000-0002-0736-9199 Inflammation of iris https://orcid.org/0000-0001-5208-3432 Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). UMLS:C0002982 Angioid streaks of the fundus Angioid streaks of the retina Angioid streaks, retina Knapp streaks Laquer cracks of the retina human_phenotype HP:0001102 Angioid streaks HP:0001102 Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid). PMID:30844178 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades. SNOMEDCT_US:312999006 UMLS:C0730362 Abnormality of the macula Macula abnormality Macular abnormality human_phenotype HP:0001103 The macula includes the fovea, a much smaller region containing pigmentation which appears yellow, which is considered by many anatomists to define the macula. Abnormal macular morphology HP:0001103 A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades. PMID:16255686 https://orcid.org/0000-0002-0736-9199 Underdevelopment of the macula lutea. UMLS:C1849412 human_phenotype HP:0001104 Macular hypoplasia HP:0001104 Underdevelopment of the macula lutea. https://orcid.org/0000-0002-0736-9199 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. human_phenotype HP:0001105 Typically retinal atrophy manifests as a well-demarcated area(s) of partial or complete loss of depigmentation in the fundus. Retinal atrophy HP:0001105 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. https://orcid.org/0000-0003-0986-4123 Increased pigmentation of the skin in the region surrounding the orbit of the eye. UMLS:C1844606 Dark circles around the eyes Dark circles under the eyes Darkening around the eyes Idiopathic cutaneous hyperchromia at the orbital region Infraorbital pigmentation Periorbital melanosis Pigmentation around the eyes human_phenotype HP:0001106 Periorbital hyperpigmentation HP:0001106 Increased pigmentation of the skin in the region surrounding the orbit of the eye. https://orcid.org/0000-0002-0736-9199 Dark circles around the eyes https://orcid.org/0000-0001-5889-4463 Dark circles under the eyes https://orcid.org/0000-0001-5889-4463 Darkening around the eyes https://orcid.org/0000-0001-5889-4463 Idiopathic cutaneous hyperchromia at the orbital region https://orcid.org/0000-0001-5889-4463 Infraorbital pigmentation https://orcid.org/0000-0001-5889-4463 Periorbital melanosis https://orcid.org/0000-0001-5889-4463 Pigmentation around the eyes https://orcid.org/0000-0001-5889-4463 An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. HP:0007745 HP:0007837 SNOMEDCT_US:26399002 UMLS:C0078917 Absent pigmentation in the eye Albinism, Ocular human_phenotype HP:0001107 Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. Ocular albinism HP:0001107 An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. https://orcid.org/0000-0002-0736-9199 Absent pigmentation in the eye https://orcid.org/0000-0001-5208-3432 true HP:0001108 true HP:0001109 true HP:0001110 true HP:0001111 Degeneration of retinal ganglion cells and their axons. HP:0001086 SNOMEDCT_US:58610003 UMLS:C0917796 Leber optic atrophy features Leber optic degeneration human_phenotype HP:0001112 Leber optic atrophy HP:0001112 Degeneration of retinal ganglion cells and their axons. https://orcid.org/0000-0002-0736-9199 Leber optic degeneration https://orcid.org/0000-0001-5208-3432 HP:0000518 human_phenotype HP:0001113 obsolete Early cataracts true HP:0001113 The presence of xanthomata in the skin of the eyelid. SNOMEDCT_US:63103006 SNOMEDCT_US:6400008 SNOMEDCT_US:75594004 UMLS:C0155210 UMLS:C0302314 UMLS:C4280601 UMLS:C4280602 Fatty deposits in skin around the eyes Fatty deposits on eyelids Xanthelasma palpebrarum Xanthoma Xanthelasma of eyelid Xanthelasma of periocular region Xanthoma of eyelid Xanthoma of periocular region human_phenotype HP:0001114 Xanthelasma HP:0001114 The presence of xanthomata in the skin of the eyelid. https://orcid.org/0000-0002-0736-9199 Fatty deposits in skin around the eyes https://orcid.org/0000-0001-5889-4463 Fatty deposits on eyelids https://orcid.org/0000-0001-5889-4463 Xanthelasma palpebrarum https://orcid.org/0000-0001-5889-4463 Xanthoma https://orcid.org/0000-0001-5889-4463 Xanthelasma of eyelid https://orcid.org/0000-0001-5889-4463 Xanthelasma of periocular region https://orcid.org/0000-0001-5889-4463 Xanthoma of eyelid https://orcid.org/0000-0001-5889-4463 Xanthoma of periocular region https://orcid.org/0000-0001-5889-4463 A polar cataract that affects the posterior pole of the lens. UMLS:C1850191 Polar cataract, posterior human_phenotype HP:0001115 Posterior polar cataract HP:0001115 A polar cataract that affects the posterior pole of the lens. https://orcid.org/0000-0002-0736-9199 A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. UMLS:C1852767 Coloboma of the macula Macular coloboma human_phenotype HP:0001116 Macular pseudocoloboma HP:0001116 A so-called macular coloboma is characterized by a sharply defined, usually excavated, area without neuroretina and RPE tissues in the central area of the fundus. This lesion is not related to classical colobomas associated with optic fissure closure defects. PMID:15069441 PMID:36682978 https://orcid.org/0000-0001-8727-6592 Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. Sudden decrease in vision UMLS:C4025803 UMLS:C4072828 UMLS:C4280600 human_phenotype Sudden central visual loss HP:0001117 Sudden loss of visual acuity HP:0001117 Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. https://orcid.org/0000-0002-0736-9199 Sudden decrease in vision https://orcid.org/0000-0001-6908-9849 A type of cataract that is not apparent at birth but that arises in childhood or adolescence. SNOMEDCT_US:399336001 UMLS:C0302254 human_phenotype HP:0001118 Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). Juvenile cataract HP:0001118 A type of cataract that is not apparent at birth but that arises in childhood or adolescence. https://orcid.org/0000-0002-0736-9199 Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. UMLS:C3887531 human_phenotype HP:0001119 Keratoglobus HP:0001119 Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. PMID:19667340 Any abnormality of the size or morphology of the cornea. UMLS:C4025802 human_phenotype HP:0001120 Abnormality of corneal size HP:0001120 Any abnormality of the size or morphology of the cornea. https://orcid.org/0000-0002-0736-9199 true HP:0001121 HP:0000610 human_phenotype HP:0001122 obsolete Aplasia/Hypoplasia of the choroid true HP:0001122 SNOMEDCT_US:12184005 UMLS:C3887875 Partial loss of field of vision Visual field defects human_phenotype HP:0001123 Visual field defect HP:0001123 Partial loss of field of vision https://orcid.org/0000-0001-6908-9849 Visual field defects https://orcid.org/0000-0002-5316-1399 true HP:0001124 Transient blurring of vision associated with the aura phase of migraine. HP:0000583 UMLS:C1865332 Hemianoptic blurring of vision Transient unilateral blurred vision human_phenotype Hemianopic blurring HP:0001125 The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. Transient unilateral blurring of vision HP:0001125 Transient blurring of vision associated with the aura phase of migraine. https://orcid.org/0000-0002-0736-9199 Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. HP:0008032 SNOMEDCT_US:400951005 UMLS:C0311249 human_phenotype HP:0001126 Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. Cryptophthalmos HP:0001126 Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. PMID:19125427 https://orcid.org/0000-0002-0736-9199 true HP:0001127 Inversion and rubbing of the eyelashes against the globe of the eye. SNOMEDCT_US:60332004 UMLS:C0221259 Ingrown eyelashes Introversion of eyelashes Trichiasis of eyelid eyelashes human_phenotype HP:0001128 Eyelash inversion. Trichiasis HP:0001128 Inversion and rubbing of the eyelashes against the globe of the eye. https://orcid.org/0000-0002-0736-9199 Ingrown eyelashes https://orcid.org/0000-0001-5889-4463 Introversion of eyelashes https://orcid.org/0000-0001-5889-4463 UMLS:C4025800 Large central loss of field of vision human_phenotype HP:0001129 Large central visual field defect HP:0001129 Large central loss of field of vision https://orcid.org/0000-0001-6908-9849 true HP:0001130 The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. HP:0007775 HP:0008005 SNOMEDCT_US:5587004 UMLS:C0010036 human_phenotype HP:0001131 Corneal dystrophy HP:0001131 The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. https://orcid.org/0000-0002-0736-9199 Partial dislocation of the lens of the eye. SNOMEDCT_US:65814009 UMLS:C0023316 Partially dislocated lens human_phenotype HP:0001132 Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). Lens subluxation HP:0001132 Partial dislocation of the lens of the eye. https://orcid.org/0000-0002-0736-9199 Partially dislocated lens https://orcid.org/0000-0001-6908-9849 An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. HP:0007887 HP:0007981 SNOMEDCT_US:1151008 SNOMEDCT_US:267628004 UMLS:C0235095 Concentric narrowing of visual field Constricted visual field Constricted visual fields Limited peripheral vision Reduced peripheral vision Visual field constriction human_phenotype HP:0001133 Constriction of peripheral visual field HP:0001133 An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. https://orcid.org/0000-0003-0986-4123 Constricted visual fields https://orcid.org/0000-0002-5316-1399 Limited peripheral vision https://orcid.org/0000-0001-6908-9849 A polar cataract that affects the anterior pole of the lens. UMLS:C1855179 Polar cataract, anterior human_phenotype HP:0001134 Anterior polar cataract HP:0001134 A polar cataract that affects the anterior pole of the lens. https://orcid.org/0000-0002-0736-9199 HP:0007712 HP:0007920 UMLS:C1857627 human_phenotype HP:0001135 Chorioretinal dystrophy HP:0001135 The presence of an increased number of twists and turns of the retinal arterioles. UMLS:C1843517 Tortuous retinal arterioles human_phenotype HP:0001136 Retinal arteriolar tortuosity HP:0001136 The presence of an increased number of twists and turns of the retinal arterioles. https://orcid.org/0000-0002-0736-9199 Esotropia in which either eye may be used for fixation. SNOMEDCT_US:39837002 UMLS:C0152205 Alternating cross eyes human_phenotype HP:0001137 Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time). Alternating esotropia HP:0001137 Esotropia in which either eye may be used for fixation. https://orcid.org/0000-0003-0986-4123 Alternating cross eyes https://orcid.org/0000-0001-6908-9849 HP:0007806 SNOMEDCT_US:82108004 UMLS:C3887709 Damaged optic nerve human_phenotype HP:0001138 Optic neuropathy HP:0001138 Damaged optic nerve https://orcid.org/0000-0001-6908-9849 Well-defined, pale patches in the fundus. human_phenotype Choroideremia HP:0001139 Chorioretinal scalloped atrophy can be observed in a variety of monogenic disorders, such as choroideremia, gyrate atrophy, Stargardt disease, and in high myopia. Chorioretinal scalloped atrophy HP:0001139 A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Benign eye tumor Benign eye tumour SNOMEDCT_US:5131000119107 SNOMEDCT_US:92097004 UMLS:C0496897 UMLS:C1867616 Epibulbar dermoid Epibulbar dermoids human_phenotype HP:0001140 Limbal dermoid HP:0001140 A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). https://orcid.org/0000-0002-0736-9199 Benign eye tumor https://orcid.org/0000-0001-6908-9849 Benign eye tumour Epibulbar dermoids Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. HP:0007640 HP:0007842 HP:0007951 HP:0008023 SNOMEDCT_US:397541004 UMLS:C1301509 Marked vision impairment Severe reduction in visual acuity Severe vision loss Severe visual impairment Severe visual loss Severely impaired vision human_phenotype HP:0001141 Severely reduced visual acuity HP:0001141 Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05. PMID:28779882 Marked vision impairment Severe visual impairment Severely impaired vision A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. SNOMEDCT_US:253221000 UMLS:C0239119 human_phenotype HP:0001142 A conical projection of the anterior or posterior surface of the lens. Lenticonus HP:0001142 A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. HPO_CONTRIBUTOR:DDD_ncarter true HP:0001143 Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). SNOMEDCT_US:31021007 UMLS:C0155285 Cyst of eye socket Orbital cysts human_phenotype HP:0001144 Orbital cyst HP:0001144 Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). https://orcid.org/0000-0002-0736-9199 Cyst of eye socket https://orcid.org/0000-0001-5889-4463 HP:0000532 human_phenotype HP:0001145 obsolete Chorioretinopathy true HP:0001145 HP:0000580 human_phenotype HP:0001146 obsolete Pigmentary retinal degeneration true HP:0001146 Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. SNOMEDCT_US:39832008 UMLS:C0240897 Retinal exudates human_phenotype HP:0001147 Retinal exudation refers to fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. Retinal exudate HP:0001147 Yellow-white intraretinal deposits in the retina typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. https://orcid.org/0000-0002-0736-9199 true HP:0001148 The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. SNOMEDCT_US:1192004 SNOMEDCT_US:361199007 UMLS:C0155127 Biber haab dimmer dystrophy human_phenotype HP:0001149 Lattice corneal dystrophy HP:0001149 The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. https://orcid.org/0000-0002-0736-9199 Biber haab dimmer dystrophy https://orcid.org/0000-0001-6908-9849 HP:0000532 human_phenotype HP:0001150 obsolete Choroidal sclerosis true HP:0001150 An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. UMLS:C1866753 Abnormal horizontal ocular pursuit Impaired horizontal visual pursuit human_phenotype HP:0001151 Impaired horizontal smooth pursuit HP:0001151 An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. https://orcid.org/0000-0002-0736-9199 An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. HP:0000530 UMLS:C1836479 Saccadic pursuit movements Saccadic slow pursuit Saccadic smooth pursuit human_phenotype HP:0001152 Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. The function of smooth pursuit is to keep a slowly moving target stable on the fovea of each eye. If smooth pursuit cannot keep up with a visual target (i.e., low pursuit gain, which is defined as the ratio of eye movement velocity to target velocity), saccades will be used to help catch up to the visual target, hence the choppy or saccadic appearance when pursuit is impaired. Saccadic smooth pursuit interruptions HP:0001152 An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. https://orcid.org/0000-0002-0736-9199 The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. SNOMEDCT_US:47054003 UMLS:C0266411 Double vagina human_phenotype HP:0001153 Septate vagina HP:0001153 The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. https://orcid.org/0000-0002-0736-9199 Double vagina https://orcid.org/0000-0001-6908-9849 true HP:0001154 An abnormality affecting one or both hands. HP:0005858 SNOMEDCT_US:299033004 UMLS:C0018564 Abnormal hands Abnormality of the hand Hand anomalies Hand deformities human_phenotype HP:0001155 Abnormality of the hand HP:0001155 An abnormality affecting one or both hands. https://orcid.org/0000-0002-0736-9199 Abnormal hands https://orcid.org/0000-0002-5316-1399 Abnormality of the hand Hand anomalies Hand deformities Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. HP:0001189 HP:0001201 HP:0005630 HP:0005657 HP:0005727 HP:0006017 HP:0006128 HP:0100667 SNOMEDCT_US:43476002 UMLS:C0221357 Brachydactyly syndrome Short fingers or toes human_phenotype HP:0001156 Brachydactyly HP:0001156 Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. https://orcid.org/0000-0002-0736-9199 Short fingers or toes https://orcid.org/0000-0002-6548-5200 true HP:0001157 true HP:0001158 Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". HP:0001206 HP:0001236 Fyler:4174 SNOMEDCT_US:373413006 UMLS:C0039075 Webbed fingers or toes human_phenotype HP:0001159 Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. Syndactyly HP:0001159 Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". https://orcid.org/0000-0002-0736-9199 Webbed fingers or toes https://orcid.org/0000-0001-5208-3432 true HP:0001160 A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. MEDDRA:10036064 SNOMEDCT_US:81793007 UMLS:C0158733 Extra finger Finger polydactyly Polydactyly of the hand Supernumerary finger human_phenotype HP:0001161 Hand polydactyly HP:0001161 A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. https://orcid.org/0000-0002-0736-9199 MEDDRA:10036064 Polydactyly of fingers Extra finger https://orcid.org/0000-0001-6908-9849 Supernumerary finger https://orcid.org/0000-0001-6908-9849 Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). HP:0004698 HP:0005763 HP:0009984 SNOMEDCT_US:205131007 UMLS:C0431904 Extra little finger Extra pinkie finger Extra pinky finger Polydactyly affecting the 5th finger Postaxial polydactyly of fingers Postaxial polydactyly of hand Postaxial polydactyly of hands human_phenotype HP:0001162 Postaxial hand polydactyly HP:0001162 Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). https://orcid.org/0009-0006-4530-3154 Extra little finger https://orcid.org/0000-0001-5208-3432 Extra pinkie finger https://orcid.org/0000-0001-5208-3432 Extra pinky finger https://orcid.org/0000-0001-5208-3432 HP:0005916 human_phenotype HP:0001163 obsolete Abnormality of the metacarpal bones true HP:0001163 true HP:0001164 true HP:0001165 Abnormally long and slender fingers (spider fingers). HP:0001505 SNOMEDCT_US:62250003 UMLS:C0003706 Long slender fingers Long, slender fingers Spider fingers human_phenotype HP:0001166 Arachnodactyly HP:0001166 Abnormally long and slender fingers (spider fingers). https://orcid.org/0000-0002-0736-9199 Long slender fingers Spider fingers An anomaly of a finger. HP:0003035 UMLS:C2674737 Abnormalities of the fingers Abnormality of finger human_phenotype HP:0001167 Abnormal finger morphology HP:0001167 An anomaly of a finger. https://orcid.org/0000-0002-0736-9199 Abnormalities of the fingers Abnormality of finger true HP:0001168 For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. HP:0001174 SNOMEDCT_US:48251003 UMLS:C0264142 Broad hand Broad hands Broad palm Wide palm human_phenotype HP:0001169 Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). Broad palm HP:0001169 For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Broad hand Broad hands https://orcid.org/0000-0002-5316-1399 Broad palm Wide palm true HP:0001170 A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. HP:0001247 HP:0003050 SNOMEDCT_US:299034005 UMLS:C0221373 Ectrodactyly of the hand Hand ectrodactyly Split hand Split-hand human_phenotype HP:0001171 Split hand HP:0001171 A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. https://orcid.org/0009-0006-4530-3154 Split hand Split-hand An abnormal structure of the first digit of the hand. SNOMEDCT_US:299130003 UMLS:C0575897 Abnormality of the thumb Abnormality of the thumbs Thumb deformity human_phenotype HP:0001172 Abnormal thumb morphology HP:0001172 Abnormality of the thumb Abnormality of the thumbs Thumb deformity true HP:0001173 true HP:0001174 true HP:0001175 HP:0002820 HP:0006044 HP:0006219 SNOMEDCT_US:249752003 UMLS:C0426870 Disproportionately large hands Large hands large hand human_phenotype HP:0001176 Large hands HP:0001176 Large hands large hand Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. HP:0005629 HP:0005634 HP:0006182 HP:0009604 SNOMEDCT_US:205135003 SNOMEDCT_US:445216006 UMLS:C1395852 Extra thumb Polydactyly affecting the thumb Preaxial polydactyly of hands Supernumerary thumb thumb polydactyly human_phenotype HP:0001177 Preaxial hand polydactyly HP:0001177 Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. https://orcid.org/0000-0002-0736-9199 Extra thumb https://orcid.org/0000-0001-6908-9849 Supernumerary thumb https://orcid.org/0000-0001-6908-9849 An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. UMLS:C4025799 human_phenotype HP:0001178 An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. Ulnar claw HP:0001178 An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. https://orcid.org/0000-0002-0736-9199 true HP:0001179 HP:0009380 human_phenotype HP:0001180 obsolete Hand oligodactyly true HP:0001180 In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. HP:0005646 UMLS:C3554617 Adducted thumbs Inward turned thumb Thumb-in-palm deformity Thumb-in-palm pattern human_phenotype HP:0001181 The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. Adducted thumb HP:0001181 In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. PMID:16235349 PMID:19125433 https://orcid.org/0000-0002-6670-9157 Inward turned thumb https://orcid.org/0000-0001-6908-9849 The gradual reduction in girth of the finger from proximal to distal. HP:0005795 HP:0005800 HP:0006032 HP:0006080 HP:0006098 HP:0006111 HP:0006125 HP:0006244 HP:0007532 SNOMEDCT_US:249768009 UMLS:C0426886 Distally tapering fingers Tapered finger Tapered fingertips Tapering fingers human_phenotype Tapered fingers HP:0001182 Tapered finger HP:0001182 The gradual reduction in girth of the finger from proximal to distal. PMID:19125433 Tapered finger Tapered fingertips Tapering fingers Tapered fingers https://orcid.org/0000-0002-5316-1399 true HP:0001183 true HP:0001184 true HP:0001185 true HP:0001186 The ability of the finger joints to move beyond their normal range of motion. HP:0006158 UMLS:C1844577 Finger joint hyperextensibility Hyperextensible digits Hyperextensible finger human_phenotype Hyperextensible fingers HP:0001187 Hyperextensibility of the finger joints HP:0001187 The ability of the finger joints to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 Finger joint hyperextensibility Hyperextensible digits Hyperextensible finger Hyperextensible fingers An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. UMLS:C0239815 Clenched hand Clenched hands Fisted hand Fisting Hand clenching Hands fisted Hands tightly fisted Thumb clasp human_phenotype HP:0001188 Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. Hand clenching HP:0001188 An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted. PMID:10085502 PMID:16702456 PMID:27638597 https://orcid.org/0009-0006-4530-3154 Clenched hands Hand clenching true HP:0001189 true HP:0001190 An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). Abnormal wrist bones UMLS:C1840535 Abnormal carpal bones Abnormality of the carpal bones Anomalous carpal bones Carpal bone anomalies human_phenotype HP:0001191 Abnormal carpal morphology HP:0001191 An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). https://orcid.org/0000-0002-0736-9199 Abnormal wrist bones https://orcid.org/0000-0001-5208-3432 true HP:0001192 UMLS:C4048199 human_phenotype HP:0001193 Ulnar deviation of the hand or of fingers of the hand HP:0001193 An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). UMLS:C4025798 Abnormalities of placenta or umbilical cord human_phenotype HP:0001194 Abnormalities of placenta or umbilical cord HP:0001194 An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). https://orcid.org/0000-0002-0736-9199 Abnormalities of placenta or umbilical cord Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. SNOMEDCT_US:204470001 UMLS:C1384670 2 vessel cord 2 vessel umbilical cord Only one artery in umbilical cord instead of two SUA Two vessel cord Two vessel umbilical cord Two-vessel cord human_phenotype HP:0001195 The umbilical cord normally has two arteries and one vein. Single umbilical artery HP:0001195 Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. https://orcid.org/0000-0002-0736-9199 2 vessel cord https://orcid.org/0000-0001-5208-3432 2 vessel umbilical cord https://orcid.org/0000-0001-5208-3432 Only one artery in umbilical cord instead of two https://orcid.org/0000-0002-6548-5200 SUA Two vessel cord https://orcid.org/0000-0001-5208-3432 Two vessel umbilical cord https://orcid.org/0000-0001-5208-3432 Decreased length of the umbilical cord. SNOMEDCT_US:59795007 UMLS:C0266786 Short umbilical cord human_phenotype HP:0001196 Short umbilical cord HP:0001196 Decreased length of the umbilical cord. https://orcid.org/0000-0002-0736-9199 Short umbilical cord An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. UMLS:C4025797 Abnormality of prenatal development or birth human_phenotype HP:0001197 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. Abnormality of prenatal development or birth HP:0001197 An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. https://orcid.org/0000-0002-0736-9199 Abnormality of prenatal development or birth true HP:0001198 A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. HP:0005846 HP:0006194 HP:0009610 HP:0009619 SNOMEDCT_US:205308004 UMLS:C0241397 Accessory phalanx of the thumb Digitalized thumb Finger-like thumb Triphalangeal thumbs Triphalangy of thumb human_phenotype HP:0001199 The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. Triphalangeal thumb HP:0001199 A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Finger-like thumb true HP:0001200 true HP:0001201 true HP:0001202 true HP:0001203 The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. HP:0006079 HP:0006116 HP:0009841 HP:0009871 UMLS:C1862158 Distal symphalangism of hands Fused outermost bones of hand Symphalangism affecting the distal phalanges of the hand Synostosis of distal phalanges Terminal symphalangism human_phenotype HP:0001204 Distal finger symphalangism HP:0001204 The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. https://orcid.org/0009-0006-4530-3154 Fused outermost bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0001205 true HP:0001206 true HP:0001207 true HP:0001208 true HP:0001209 true HP:0001210 An abnormal structure of the tip (end) of a finger. UMLS:C4025796 Abnormality of the fingertips human_phenotype HP:0001211 Abnormal fingertip morphology HP:0001211 Abnormality of the fingertips A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. HP:0001235 UMLS:C1835807 Persistence of fingerpads Persistent fetal fingertip pads Persistent foetal fingertip pads Prominent finger pads Prominent fingertip pads human_phenotype HP:0001212 Prominent fingertip pads HP:0001212 A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. https://orcid.org/0000-0002-0736-9199 Persistent foetal fingertip pads Prominent finger pads Prominent fingertip pads true HP:0001213 true HP:0001214 The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. UMLS:C1859368 human_phenotype HP:0001215 Camptodactyly of 2nd-5th fingers HP:0001215 The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. https://orcid.org/0000-0002-0736-9199 Ossification of carpal bones occurs later than age-adjusted norms. HP:0006069 UMLS:C1841684 UMLS:C4280599 Carpal delayed ossification Delayed carpal bone age Delayed carpal ossification Delayed maturation of carpal bones human_phenotype Delayed maturation of wrist bone HP:0001216 Delayed ossification of carpal bones HP:0001216 Ossification of carpal bones occurs later than age-adjusted norms. https://orcid.org/0000-0002-0736-9199 Delayed maturation of wrist bone https://orcid.org/0000-0001-5208-3432 Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. HP:0003036 HP:0005874 SNOMEDCT_US:367004 UMLS:C0149651 Clubbing of fingers and toes Digital clubbing human_phenotype HP:0001217 Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). Clubbing HP:0001217 Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. PMID:19125433 https://orcid.org/0009-0006-4530-3154 Clubbing of fingers and toes Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. UMLS:C1833222 human_phenotype HP:0001218 Autoamputation HP:0001218 Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology. PMID:31633102 https://orcid.org/0000-0002-0736-9199 true HP:0001219 Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. UMLS:C4021784 Interphalangeal joint flexion contractures human_phenotype HP:0001220 Interphalangeal joint contracture of finger HP:0001220 Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 true HP:0001221 Spoon-shaped, broad thumbs. UMLS:C0241395 Spoon shaped thumbs human_phenotype HP:0001222 Spatulate thumbs HP:0001222 Spoon-shaped, broad thumbs. https://orcid.org/0000-0002-0736-9199 Spoon shaped thumbs https://orcid.org/0000-0001-5208-3432 All of the metacarpal bones of the hand have a pointed proximal appearance. UMLS:C1854787 human_phenotype HP:0001223 Pointed proximal second through fifth metacarpals HP:0001223 All of the metacarpal bones of the hand have a pointed proximal appearance. https://orcid.org/0000-0002-0736-9199 true HP:0001224 UMLS:C0241760 Wrist swelling human_phenotype HP:0001225 Wrist swelling HP:0001225 Wrist swelling HP:0006121 human_phenotype HP:0001226 obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits true HP:0001226 An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. UMLS:C4021783 Thenar abnormality human_phenotype HP:0001227 Abnormality of the thenar eminence HP:0001227 An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. https://orcid.org/0000-0002-0736-9199 true HP:0001228 true HP:0001229 Abnormally broad metacarpal bones. HP:0006024 HP:0006065 UMLS:C1842229 Wide long bones of hand Wide metacarpals human_phenotype HP:0001230 Broad metacarpals HP:0001230 Abnormally broad metacarpal bones. https://orcid.org/0000-0002-0736-9199 Wide long bones of hand https://orcid.org/0000-0001-5208-3432 An abnormality of the fingernails. UMLS:C4021782 Abnormal fingernails Abnormality of the fingernails human_phenotype HP:0001231 Abnormal fingernail morphology HP:0001231 An abnormality of the fingernails. https://orcid.org/0000-0002-0736-9199 Abnormal fingernails https://orcid.org/0000-0002-5316-1399 Abnormality of the fingernails Telangiectases in the area of the nails. UMLS:C1838167 Nail bed telangiectases human_phenotype HP:0001232 Nail bed telangiectasia HP:0001232 Telangiectases in the area of the nails. https://orcid.org/0000-0002-0736-9199 A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints. HP:0006039 HP:0006122 SNOMEDCT_US:205139009 UMLS:C0432055 Syndactyly 2nd-3rd fingers Syndactyly, 2-3 finger Webbed 2nd-3rd fingers human_phenotype HP:0001233 2-3 finger cutaneous syndactyly HP:0001233 A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed 2nd-3rd fingers https://orcid.org/0000-0001-5208-3432 With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. HP:0009620 HP:0040021 UMLS:C1857269 Abducted thumb Hitchhiker thumb human_phenotype HP:0001234 The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. Hitchhiker thumb HP:0001234 With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Hitchhiker thumb true HP:0001235 true HP:0001236 true HP:0001237 Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. UMLS:C1857482 Narrow fingers Slender finger Slender fingers thin fingers human_phenotype HP:0001238 Slender finger HP:0001238 Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. PMID:19125433 Narrow fingers Slender finger Slender fingers https://orcid.org/0000-0002-5316-1399 thin fingers A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. HP:0006049 HP:0006137 SNOMEDCT_US:202275008 UMLS:C0409345 Wrist contracture Wrist flexion deformity human_phenotype HP:0001239 Wrist flexion contracture HP:0001239 A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. https://orcid.org/0000-0002-0736-9199 true HP:0001240 UMLS:C1857002 Capitate-hamate fusions Fused capitate and hamate Fusion of capitate and hamate Fusion of hamate and capitate human_phenotype HP:0001241 Capitate-hamate fusion HP:0001241 true HP:0001242 true HP:0001243 true HP:0001244 Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. HP:0006188 UMLS:C1846474 Decreased thenar eminence Hypoplastic thenar eminences Thenar hypoplasia Thenar muscle hypoplasia human_phenotype HP:0001245 The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. Small thenar eminence HP:0001245 Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Decreased thenar eminence https://orcid.org/0000-0001-5208-3432 true HP:0001246 true HP:0001247 Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. UMLS:C4025795 Long bone shortening of the hand Short long bones of the hand Shortened long tubular bones of the hand Shortened tubular bones of the hand human_phenotype HP:0001248 Long bones are also known as tubular bones. Short tubular bones of the hand HP:0001248 Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. https://orcid.org/0000-0002-0736-9199 The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. HP:0000730 HP:0001261 HP:0001267 HP:0001286 HP:0002122 HP:0002192 HP:0002316 HP:0002382 HP:0002386 HP:0002402 HP:0002458 HP:0002482 HP:0002499 HP:0002543 HP:0003767 HP:0006833 HP:0006877 HP:0006887 HP:0006924 HP:0007025 HP:0007044 HP:0007154 HP:0007176 HP:0007180 HP:0007243 SNOMEDCT_US:228156007 SNOMEDCT_US:247578003 SNOMEDCT_US:91138005 UMLS:C0025362 UMLS:C0423903 UMLS:C0917816 UMLS:C1843367 UMLS:C3714756 UMLS:C4020876 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation Nonprogressive intellectual disability Nonprogressive mental retardation human_phenotype Dull intelligence Low intelligence Poor school performance HP:0001249 This term should be used for children who are at least five years old. For younger children, consider using the term Global developmental delay (HP:0001263). According to the WHO classification, Disorders of intellectual development are a group of etiologically diverse conditions originating during the developmental period characterized by significantly below average intellectual functioning and adaptive behavior that are approximately two or more standard deviations below the mean (approximately less than the 2nd/3rd percentile, corresponding roughly to an IQ threshold of 70). A diagnosis of intellectual disability should not be based solely on the results of tests of intellectual and adaptive functioning; rather, it is based on a combination of clinical assessment and judgment in conjunction with the results of standardized tests of intellectual and adaptive functioning. Intellectual disability HP:0001249 The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. PMID:31292035 PMID:32206581 PMID:36975277 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation Low intelligence Poor school performance A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. HP:0001275 HP:0001303 HP:0002125 HP:0002182 HP:0002279 HP:0002306 HP:0002348 HP:0002391 HP:0002417 HP:0002430 HP:0002431 HP:0002432 HP:0002434 HP:0002437 HP:0002466 HP:0002479 HP:0002794 HP:0006997 HP:0010520 SNOMEDCT_US:128613002 SNOMEDCT_US:246545002 SNOMEDCT_US:313307000 SNOMEDCT_US:84757009 SNOMEDCT_US:91175000 UMLS:C0014544 UMLS:C0036572 Epileptic seizure Seizures human_phenotype Epilepsy HP:0001250 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. Seizure HP:0001250 A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. PMID:15816939 https://orcid.org/0000-0002-0736-9199 Seizures Epilepsy Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). HP:0001253 HP:0002513 HP:0007050 HP:0007157 SNOMEDCT_US:85102008 UMLS:C0007758 Cerebellar ataxia human_phenotype HP:0001251 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. Ataxia HP:0001251 Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). https://orcid.org/0000-0002-0736-9199 Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. HP:0011398 SNOMEDCT_US:398151007 SNOMEDCT_US:398152000 UMLS:C0026827 Low muscle tone Low or weak muscle tone Muscle hypotonia Muscular hypotonia Central hypotonia Peripheral hypotonia human_phenotype HP:0001252 Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. Hypotonia HP:0001252 Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. PMID:21418198 https://orcid.org/0000-0002-0736-9199 Low muscle tone Low or weak muscle tone https://orcid.org/0000-0002-6548-5200 true HP:0001253 A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. SNOMEDCT_US:214264003 UMLS:C0023380 Dullness Inaction Inactivity Languor Lethargy Slowness Torpor human_phenotype HP:0001254 Apathy and lethargy may co-occur. Lethargy HP:0001254 Lethargy true HP:0001255 Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. HP:0006908 HP:0007119 SNOMEDCT_US:86765009 UMLS:C0026106 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation human_phenotype Mental retardation, mild HP:0001256 Mild intellectual disability HP:0001256 Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. https://orcid.org/0000-0002-0736-9199 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation Mental retardation, mild A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. SNOMEDCT_US:221360009 SNOMEDCT_US:397790002 UMLS:C0026838 Involuntary muscle stiffness, contraction, or spasm Muscle spasticity Muscular spasticity human_phenotype HP:0001257 Spasticity HP:0001257 A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. https://orcid.org/0000-0002-0736-9199 Involuntary muscle stiffness, contraction, or spasm https://orcid.org/0000-0002-6548-5200 Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. HP:0007062 HP:0007124 HP:0007216 SNOMEDCT_US:192967009 UMLS:C0037772 Spastic paraplegia, lower limb human_phenotype HP:0001258 This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. Spastic paraplegia HP:0001258 Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. PMID:19277459 https://orcid.org/0000-0002-0736-9199 The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. ICD-10:R40.2 SNOMEDCT_US:371632003 UMLS:C0009421 Coma Persistent vegetative state Stupor Unconsciousness human_phenotype Trance HP:0001259 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. Coma HP:0001259 The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. PMID:33218655 ICD-10:R40.2 Coma, unspecified Coma Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. HP:0002327 SNOMEDCT_US:8011004 UMLS:C0013362 Difficulty articulating speech Dysarthric speech human_phenotype HP:0001260 Dysarthria HP:0001260 Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. https://orcid.org/0000-0002-0736-9199 Difficulty articulating speech true HP:0001261 A state of abnormally strong desire for sleep during the daytime. HP:0002189 HP:0100786 SNOMEDCT_US:271782001 SNOMEDCT_US:79519003 UMLS:C2830004 Excessive daytime sleepiness More than typical sleepiness during day human_phenotype HP:0001262 This term refers to excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep. Excessive daytime somnolence HP:0001262 A state of abnormally strong desire for sleep during the daytime. PMID:32901432 Excessive daytime sleepiness More than typical sleepiness during day https://orcid.org/0000-0002-6548-5200 A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. HP:0000754 HP:0001255 HP:0001277 HP:0001292 HP:0002433 HP:0002473 HP:0002532 HP:0006793 HP:0006867 HP:0006885 HP:0006935 HP:0007005 HP:0007094 HP:0007106 HP:0007174 HP:0007224 HP:0007228 HP:0007342 HP:0025356 SNOMEDCT_US:224958001 UMLS:C0557874 UMLS:C1864897 UMLS:C4020875 Delayed cognitive development Delayed development Delayed developmental milestones Delayed intellectual development Delayed milestones Delayed psychomotor development Developmental delay Developmental delay in early childhood Developmental delay, global Developmental retardation GDD Lack of psychomotor development Motor and developmental delay Motormental retardation Psychomotor delay Psychomotor development deficiency Psychomotor development failure Psychomotor developmental delay Retarded development Retarded mental development Retarded psychomotor development human_phenotype Cognitive delay Mental and motor retardation HP:0001263 Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. Global developmental delay HP:0001263 A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. https://orcid.org/0000-0002-6410-0882 https://orcid.org/0009-0006-4530-3154 GDD Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. SNOMEDCT_US:281411007 UMLS:C0023882 Spastic diparesis Spastic diplegic human_phenotype HP:0001264 Spastic diplegia HP:0001264 Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. https://orcid.org/0000-0002-0736-9199 Reduction of neurologic reflexes such as the knee-jerk reaction. HP:0002467 SNOMEDCT_US:405946002 UMLS:C0700078 Decreased reflex response Decreased reflexes human_phenotype HP:0001265 Hyporeflexia HP:0001265 Reduction of neurologic reflexes such as the knee-jerk reaction. https://orcid.org/0000-0002-0736-9199 Decreased reflex response Decreased reflexes https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). HP:0002469 HP:0006811 HP:0007028 HP:0007337 SNOMEDCT_US:43105007 UMLS:C0085583 UMLS:C0234967 Choreoathetoid movements human_phenotype HP:0001266 Choreoathetosis HP:0001266 Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). https://orcid.org/0000-0002-0736-9199 true HP:0001267 Loss of previously present mental abilities, generally in adults. HP:0002303 HP:0006822 HP:0007155 HP:0007253 HP:0007264 HP:0007298 UMLS:C0234985 Cognitive decline Cognitive decline, progressive Intellectual deterioration Mental deterioration Progressive cognitive decline human_phenotype HP:0001268 Mental deterioration HP:0001268 Loss of previously present mental abilities, generally in adults. https://orcid.org/0000-0002-0736-9199 Cognitive decline Cognitive decline, progressive Intellectual deterioration Mental deterioration Progressive cognitive decline Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. SNOMEDCT_US:127377003 SNOMEDCT_US:20022000 UMLS:C0018989 Weakness of one side of body human_phenotype HP:0001269 Hemiparesis HP:0001269 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. HPO_CONTRIBUTOR:UKB_tklockgether https://orcid.org/0000-0002-0736-9199 Weakness of one side of body https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A type of Developmental delay characterized by a delay in acquiring motor skills. HP:0001307 HP:0002130 HP:0006788 HP:0006826 HP:0006909 HP:0006950 HP:0006968 HP:0007219 HP:0007251 UMLS:C1854301 UMLS:C4020874 Delay in development of motor milestones Delay in motor development Delayed development of motor milestones Delayed early motor milestones Delayed motor development Delayed motor milestones Locomotor delay Motor developmental delay Motor developmental milestones not achieved Motor retardation Retarded motor development Slow development of motor milestones human_phenotype No development of motor milestones HP:0001270 Motor delay HP:0001270 A type of Developmental delay characterized by a delay in acquiring motor skills. https://orcid.org/0000-0002-0736-9199 A generalized disorder of peripheral nerves. HP:0006941 HP:0007287 SNOMEDCT_US:302226006 SNOMEDCT_US:42345000 SNOMEDCT_US:42658009 UMLS:C0031117 UMLS:C0152025 Peripheral nerve disease human_phenotype HP:0001271 Polyneuropathy HP:0001271 A generalized disorder of peripheral nerves. https://orcid.org/0000-0002-0736-9199 Peripheral nerve disease https://orcid.org/0000-0001-5208-3432 Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. HP:0002364 HP:0006839 HP:0007072 HP:0007203 SNOMEDCT_US:95646004 UMLS:C0262404 UMLS:C0740279 UMLS:C4020873 Atrophic cerebellum Degeneration of cerebellum human_phenotype Infratentorial atrophy HP:0001272 Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. Cerebellar atrophy HP:0001272 Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. PMID:12169461 PMID:26331051 https://orcid.org/0000-0002-0736-9199 Degeneration of cerebellum https://orcid.org/0000-0001-5208-3432 Abnormality of the corpus callosum. HP:0007323 UMLS:C1842581 Abnormal corpus callosum Abnormality of the corpus callosum Corpus callosum abnormality human_phenotype HP:0001273 The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. Abnormal corpus callosum morphology HP:0001273 Abnormality of the corpus callosum. PMID:21263138 https://orcid.org/0000-0002-0736-9199 Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. HP:0006800 Fyler:4321 SNOMEDCT_US:5102002 UMLS:C0175754 Absence of corpus callosum Absent corpus callosum Agenesis of the corpus callosum Callosal agenesis Corpus callosum agenesis Dysplastic or absent corpus callosum human_phenotype HP:0001274 Agenesis of corpus callosum HP:0001274 Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. https://orcid.org/0000-0002-0736-9199 true HP:0001275 A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. HP:0002388 SNOMEDCT_US:41581000 SNOMEDCT_US:56731001 UMLS:C0026826 Hypertonicity Increased muscle tone Spasticity and rigidity of muscles human_phenotype Muscle hypertonia HP:0001276 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. Hypertonia HP:0001276 A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. https://orcid.org/0000-0002-0736-9199 Spasticity and rigidity of muscles https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0001277 A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. HP:0004932 HP:0006700 SNOMEDCT_US:28651003 UMLS:C0020651 Decrease in blood pressure upon standing up Postural hypotension human_phenotype HP:0001278 Orthostatic hypotension HP:0001278 A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. https://orcid.org/0000-0002-0736-9199 Decrease in blood pressure upon standing up https://orcid.org/0000-0002-6548-5200 A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. 2008-02-25T10:37:00Z SNOMEDCT_US:271594007 SNOMEDCT_US:272030005 SNOMEDCT_US:309585006 UMLS:C0039070 Fainting spell human_phenotype HP:0001279 Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. Syncope HP:0001279 A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. PMID:29255499 https://orcid.org/0000-0002-0736-9199 Fainting spell true HP:0001280 A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. SNOMEDCT_US:10629009 UMLS:C0039621 Intermittent involuntary muscle spasm human_phenotype HP:0001281 Tetany HP:0001281 Intermittent involuntary muscle spasm https://orcid.org/0000-0002-6548-5200 true HP:0001282 Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. HP:0003441 HP:0003709 SNOMEDCT_US:398432008 UMLS:C1301959 UMLS:C4082299 Bulbar muscle weakness Bulbar palsies Bulbar weakness human_phenotype HP:0001283 Bulbar palsy HP:0001283 Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. https://orcid.org/0000-0002-0736-9199 Absence of neurologic reflexes such as the knee-jerk reaction. HP:0001314 Absent reflexes SNOMEDCT_US:349006 SNOMEDCT_US:37280007 UMLS:C0234146 UMLS:C0241772 UMLS:C0278124 Absent deep tendon reflexes Absent tendon reflexes Deep tendon reflexes absent Loss of deep tendon reflexes Lost deep tendon reflexes human_phenotype HP:0001284 The stretch reflexes (also called deep tendon reflexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). Areflexia HP:0001284 Absence of neurologic reflexes such as the knee-jerk reaction. https://orcid.org/0000-0002-0736-9199 Absent reflexes Absent tendon reflexes Spastic weakness affecting all four limbs. HP:0002393 SNOMEDCT_US:298282001 UMLS:C0575059 Spastic quadriparesis human_phenotype HP:0001285 Spastic tetraparesis HP:0001285 Spastic weakness affecting all four limbs. https://orcid.org/0000-0002-0736-9199 true HP:0001286 Inflammation of the meninges. SNOMEDCT_US:7180009 UMLS:C0025289 Unusual infectious meningitis Unusual meningitis human_phenotype HP:0001287 Meningitis HP:0001287 Inflammation of the meninges. https://orcid.org/0000-0002-0736-9199 The term gait disturbance can refer to any disruption of the ability to walk. HP:0002355 HP:0006953 HP:0007101 HP:0009030 SNOMEDCT_US:22325002 UMLS:C0575081 Abnormal gait Abnormal walk Difficulty in walking Gait abnormalities Gait difficulties Gait disturbances Impaired gait Walking disability human_phenotype HP:0001288 Gait disturbances can be caused by neurological or muscular diseases but also fractures or other sources of pain that is triggered upon walking. Gait disturbance HP:0001288 The term gait disturbance can refer to any disruption of the ability to walk. PMID:27770207 https://orcid.org/0000-0002-0736-9199 Abnormal gait Abnormal walk https://orcid.org/0000-0001-5208-3432 Difficulty in walking Impaired gait Lack of clarity and coherence of thought, perception, understanding, or action. HP:0000731 SNOMEDCT_US:286933003 UMLS:C0009676 Confusion Disorientation Easily confused Mental disorientation human_phenotype HP:0001289 Confusion HP:0001289 Confusion Disorientation Easily confused Mental disorientation Generalized muscular hypotonia (abnormally low muscle tone). UMLS:C1858120 Generalised decreased muscle tone Generalised hypotonia Generalised muscular hypotonia Generalized decreased muscle tone Generalized muscular hypotonia Hypotonia, generalised Hypotonia, generalized human_phenotype HP:0001290 Generalized hypotonia HP:0001290 Generalized muscular hypotonia (abnormally low muscle tone). https://orcid.org/0000-0002-0736-9199 Generalised decreased muscle tone Generalised hypotonia Generalised muscular hypotonia Generalized decreased muscle tone Hypotonia, generalised Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. HP:0003480 UMLS:C1854510 UMLS:C4020872 Abnormality of cranial nerve Abnormality of the cranial nerves Cranial nerve disease Cranial nerve involvement human_phenotype Cranial nerve abnormality HP:0001291 Abnormal cranial nerve morphology HP:0001291 Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. https://orcid.org/0000-0002-0736-9199 Abnormality of cranial nerve https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 true HP:0001292 SNOMEDCT_US:95664006 UMLS:C0521670 human_phenotype HP:0001293 Cranial nerve compression HP:0001293 true HP:0001294 true HP:0001295 true HP:0001296 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. HP:0002452 SNOMEDCT_US:230690007 UMLS:C0038454 Cerebral vascular events Cerebrovascular accident Stroke human_phenotype Cerebrovascular accidents HP:0001297 Stroke HP:0001297 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. https://orcid.org/0000-0002-0736-9199 Stroke Cerebrovascular accidents https://orcid.org/0000-0002-5316-1399 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. SNOMEDCT_US:81308009 UMLS:C0085584 human_phenotype HP:0001298 This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. Encephalopathy HP:0001298 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. HPO_CONTRIBUTOR:KI_phemming https://orcid.org/0000-0002-0736-9199 true HP:0001299 Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. SNOMEDCT_US:32798002 UMLS:C0242422 human_phenotype Parkinsonian disease HP:0001300 Parkinsonism HP:0001300 Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. https://orcid.org/0000-0002-0736-9199 UMLS:C4025794 human_phenotype HP:0001301 Chronic sensorineural polyneuropathy HP:0001301 Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. HP:0007227 SNOMEDCT_US:23024003 UMLS:C0266483 Cerebral pachygyria Fewer and broader ridges in brain Macrogyria human_phenotype HP:0001302 Pachygyria HP:0001302 Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. PMID:22427329 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 Fewer and broader ridges in brain true HP:0001303 Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. SNOMEDCT_US:22451001 SNOMEDCT_US:431034009 UMLS:C0013423 Dystonia musculorum deformans human_phenotype HP:0001304 Torsion dystonia HP:0001304 Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. https://orcid.org/0000-0002-0736-9199 A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. HP:0001313 HP:0006809 SNOMEDCT_US:14447001 UMLS:C0010964 Dandy-Walker cyst Dandy-walker anomaly human_phenotype HP:0001305 Dandy-Walker malformation HP:0001305 A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. PMID:26246090 https://orcid.org/0000-0002-0736-9199 true HP:0001306 true HP:0001307 Fasciculations or fibrillation affecting the tongue muscle. HP:0003727 SNOMEDCT_US:249878001 UMLS:C0239548 Lingual fasciculations Lingual fibrillations Lingual twitching Tongue fasciculation Tongue fasciculations/fibrillations Tongue twitching Twitching of the tongue human_phenotype HP:0001308 Tongue fasciculations HP:0001308 Fasciculations or fibrillation affecting the tongue muscle. https://orcid.org/0000-0002-0736-9199 Lingual fasciculations https://orcid.org/0000-0001-5889-4463 Lingual fibrillations https://orcid.org/0000-0001-5889-4463 Lingual twitching https://orcid.org/0000-0001-5889-4463 Tongue twitching Twitching of the tongue https://orcid.org/0000-0001-5889-4463 true HP:0001309 A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. SNOMEDCT_US:32566006 UMLS:C0234162 Lack of coordination of movement human_phenotype Abnormal finger chase test Abnormal finger-nose-finger test HP:0001310 Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. Dysmetria HP:0001310 A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. https://orcid.org/0000-0002-0736-9199 Lack of coordination of movement https://orcid.org/0000-0002-6548-5200 An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. HP:0002531 HP:0003129 UMLS:C4021781 Neurophysiologic abnormalities Neurophysiologic abnormality human_phenotype HP:0001311 Abnormal nervous system electrophysiology HP:0001311 An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. https://orcid.org/0000-0002-0736-9199 An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. UMLS:C3806961 Giant SEPS human_phenotype HP:0001312 Giant somatosensory evoked potentials HP:0001312 An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. https://orcid.org/0000-0002-0736-9199 true HP:0001313 true HP:0001314 A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. HP:0001316 UMLS:C1866934 Absent or decreased deep tendon reflexes Decreased deep tendon reflexes Decreased tendon reflexes Decreased to absent deep tendon reflexes Decreased/absent deep tendon reflexes Depressed tendon reflexes Diminished deep tendon reflexes Diminished or absent deep tendon reflexes Diminished or absent tendon reflexes Hypoactive to absent deep tendon reflexes Impaired tendon reflexes Reduced tendon reflexes Reduced/absent deep tendon reflexes Weak or absent deep tendon reflexes human_phenotype HP:0001315 The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. Diminished deep tendon reflex HP:0001315 A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. PMID:20941667 https://orcid.org/0000-0002-0736-9199 true HP:0001316 Any structural abnormality of the cerebellum. HP:0002438 UMLS:C0742038 UMLS:C1866129 Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly Cerebellar signs human_phenotype HP:0001317 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. Abnormal cerebellum morphology HP:0001317 Any structural abnormality of the cerebellum. PMID:27160001 https://orcid.org/0000-0002-0736-9199 Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. HP:0006830 HP:0008976 SNOMEDCT_US:205294008 UMLS:C2267233 Hypotonia, in neonatal onset Hypotonia, neonatal Low muscle tone, in neonatal onset human_phenotype Congenital hypotonia HP:0001319 Neonatal hypotonia HP:0001319 Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. https://orcid.org/0000-0002-0736-9199 Low muscle tone, in neonatal onset https://orcid.org/0000-0001-5208-3432 Underdevelopment of the vermis of cerebellum. UMLS:C1840379 Cerebellar vermal hypoplasia Hypoplasia of the cerebellar vermis Hypoplastic cerebellar vermis human_phenotype HP:0001320 Cerebellar vermis hypoplasia HP:0001320 Underdevelopment of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. HP:0006806 HP:0006910 HP:0007038 HP:0007053 SNOMEDCT_US:16026008 UMLS:C0266470 Congenital cerebellar hypoplasia Hypoplasia of cerebellum Hypoplastic cerebellum Small cerebellum Underdeveloped cerebellum human_phenotype HP:0001321 By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. Cerebellar hypoplasia HP:0001321 Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. PMID:26331051 PMID:27160001 https://orcid.org/0000-0002-0736-9199 Small cerebellum https://orcid.org/0000-0001-5208-3432 Underdeveloped cerebellum https://orcid.org/0000-0001-5208-3432 HP:0006872 human_phenotype HP:0001322 obsolete Brain very small true HP:0001322 true HP:0001323 Reduced strength of muscles. HP:0002309 HP:0008979 HP:0009012 HP:0009061 SNOMEDCT_US:26544005 UMLS:C0151786 Muscle weakness Muscular weakness human_phenotype HP:0001324 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. Muscle weakness HP:0001324 Reduced strength of muscles. PMID:15832536 https://orcid.org/0000-0002-0736-9199 Muscle weakness Muscular weakness Coma induced by low blood sugar. SNOMEDCT_US:267384006 UMLS:C0020617 Coma caused by low blood sugar Coma, hypoglycemic Hypoglycaemic coma Hypoglycemic coma Loss of consciousness due to hypoglycemia human_phenotype HP:0001325 Hypoglycemic coma HP:0001325 Coma caused by low blood sugar https://orcid.org/0000-0001-5208-3432 EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. UMLS:C4025792 EEG with irregular generalised spike and wave complexes human_phenotype HP:0001326 EEG with irregular generalized spike and wave complexes HP:0001326 EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. HPO_CONTRIBUTOR:jalbers EEG with irregular generalised spike and wave complexes Generalised myoclonic seizure provoked by flashing or flickering light. UMLS:C4025791 Photically induced myoclonic seizure Photomyoclonic seizure Photomyoclonic seizures human_phenotype HP:0001327 Photosensitive myoclonic seizure HP:0001327 Generalised myoclonic seizure provoked by flashing or flickering light. PMID:28276060 Photomyoclonic seizures Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. HP:0007234 UMLS:C4025790 human_phenotype HP:0001328 The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. Specific learning disability HP:0001328 Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. https://orcid.org/0000-0002-0736-9199 true HP:0001329 true HP:0001330 Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. HP:0006969 SNOMEDCT_US:253143001 UMLS:C0431371 Absence of septum pellucidum Absence of the septum pellucidum Agenesis of the septum pellucidum Missing septum pellucidum human_phenotype HP:0001331 In contrast to the septum pellucidum, the cavum septum pellucidum (CSP) is a potential cavity between the membranous leaves of the septum pellucidum, separated by at least 1 mm, and is considered a normal anatomical variation. Absent septum pellucidum HP:0001331 Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. PMID:30725733 https://orcid.org/0000-0002-0736-9199 Missing septum pellucidum https://orcid.org/0000-0002-6548-5200 An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. HP:0002328 UMLS:C0013421 UMLS:C4020871 Dystonic movements human_phenotype Dystonic disease HP:0001332 Dystonia HP:0001332 An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. https://orcid.org/0000-0002-0736-9199 true HP:0001333 A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. SNOMEDCT_US:271569006 UMLS:C0009451 human_phenotype HP:0001334 Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. Communicating hydrocephalus HP:0001334 A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. eMedicine:1135286 https://orcid.org/0000-0002-0736-9199 Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. SNOMEDCT_US:229247004 UMLS:C0454455 Hand mirror movements Mirror hand movements Mirror movements human_phenotype HP:0001335 Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. Bimanual synkinesia HP:0001335 Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. PMID:22412265 PMID:28945198 https://orcid.org/0000-0002-0736-9199 Hand mirror movements Mirror hand movements Mirror movements Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. HP:0002535 HP:0007087 Jerking SNOMEDCT_US:127324008 SNOMEDCT_US:17450006 UMLS:C0027066 UMLS:C1854302 Myoclonic jerks human_phenotype Involuntary jerking movements HP:0001336 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. Myoclonus HP:0001336 Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. PMID:20589866 https://orcid.org/0000-0002-0736-9199 Jerking An unintentional, oscillating to-and-fro muscle movement about a joint axis. HP:0001295 HP:0001309 SNOMEDCT_US:26079004 UMLS:C0040822 Tremor Tremors human_phenotype HP:0001337 Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. Tremor HP:0001337 An unintentional, oscillating to-and-fro muscle movement about a joint axis. PMID:16344298 PMID:20589866 https://orcid.org/0000-0002-0736-9199 Tremor Tremors A partial failure of the development of the corpus callosum. HP:0006982 HP:0007090 HP:0007128 SNOMEDCT_US:253140003 UMLS:C0431368 UMLS:C1857278 Corpus callosum agenesis, partial Partial agenesis of corpus callosum Partial corpus callosum agenesis Partial or complete agenesis of corpus callosum Partial to complete agenesis of corpus callosum Partial-total agenesis of corpus callosum human_phenotype Partial or complete agenesis of the corpus callosum HP:0001338 Partial agenesis of the corpus callosum HP:0001338 A partial failure of the development of the corpus callosum. https://orcid.org/0000-0002-0736-9199 Partial or complete agenesis of the corpus callosum https://orcid.org/0000-0002-5316-1399 A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. HP:0002537 SNOMEDCT_US:204036008 UMLS:C0266463 UMLS:C1879312 Fewer or absent grooves in brain human_phenotype HP:0001339 Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. Lissencephaly HP:0001339 A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. PMID:28440899 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 Fewer or absent grooves in brain https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. UMLS:C3552824 human_phenotype HP:0001340 Enhancement of the C-reflex HP:0001340 Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. PMID:4819909 https://orcid.org/0000-0002-0736-9199 UMLS:C1855331 Olfactory lobe absence human_phenotype HP:0001341 Olfactory lobe agenesis HP:0001341 Olfactory lobe absence Hemorrhage into the parenchyma of the brain. HP:0002137 SNOMEDCT_US:230706003 SNOMEDCT_US:274100004 UMLS:C0553692 UMLS:C2937358 Bleeding in brain Cerebral haemorrhage Intracerebral haemorrhage Intracerebral hemorrhage human_phenotype Hemorrhagic stroke HP:0001342 A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. Cerebral hemorrhage HP:0001342 Hemorrhage into the parenchyma of the brain. HPO_CONTRIBUTOR:gcarletti Bleeding in brain https://orcid.org/0000-0002-6548-5200 Cerebral haemorrhage Intracerebral haemorrhage Hemorrhagic stroke https://orcid.org/0000-0001-6908-9849 Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. SNOMEDCT_US:50143004 SNOMEDCT_US:74925009 UMLS:C0022610 human_phenotype HP:0001343 Kernicterus HP:0001343 Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. https://orcid.org/0000-0002-0736-9199 Complete lack of development of speech and language abilities. HP:0001617 HP:0006798 UMLS:C0746940 UMLS:C1854882 Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal human_phenotype HP:0001344 This term should not be used in very young children. Absent speech HP:0001344 Complete lack of development of speech and language abilities. https://orcid.org/0000-0002-0736-9199 Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal https://orcid.org/0000-0001-9114-8737 A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors. UMLS:C4025789 human_phenotype HP:0001345 Psychotic mentation HP:0001345 true HP:0001346 Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. HP:0001282 HP:0006820 HP:0007184 HP:0007318 SNOMEDCT_US:86854008 UMLS:C0151889 Increased deep tendon reflexes Increased reflexes human_phenotype HP:0001347 Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. Hyperreflexia HP:0001347 Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. https://orcid.org/0000-0002-0736-9199 Increased reflexes Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. UMLS:C2673700 Brisk deep tendon reflexes human_phenotype HP:0001348 Brisk reflexes HP:0001348 Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). HP:0005334 HP:0007085 UMLS:C1836003 Bilateral facial weakness Facial paresis, bilateral human_phenotype HP:0001349 Facial diplegia HP:0001349 Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). https://orcid.org/0000-0002-0736-9199 Abnormal coordination of muscles involved in speech. SNOMEDCT_US:289195008 UMLS:C0234518 Slurred speech human_phenotype HP:0001350 Slurred speech HP:0001350 Abnormal coordination of muscles involved in speech. https://orcid.org/0000-0002-9102-5232 Slurred speech Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. UMLS:C3552825 human_phenotype HP:0001351 EEG-EMG jerk-locked averaging is a technique that combines EEG and EMG to assess myoclonus. The technique use electromyography (EMG) electrodes for the arms or legs, and correlates averaged EEG responses with EMG bursts used as a trigger. Jerk-locked premyoclonus spikes HP:0001351 Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. PMID:1464676 PMID:30653168 https://orcid.org/0000-0002-0736-9199 true HP:0001352 true HP:0001353 true HP:0001354 Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). Enlarged brain SNOMEDCT_US:19410003 UMLS:C0221355 Macrencephaly human_phenotype HP:0001355 Megalencephaly is defined as fronto-occipital diameter above two standard deviations of the mean for the patient's age because of an oversized brain parenchyma. This is different from macrocephaly, which is defined by an enlarged head circumference and therefore accounts also for the size of the extra-axial spaces. Megalencephaly HP:0001355 Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). PMID:28658095 PMID:29594439 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 Enlarged brain https://orcid.org/0000-0002-6548-5200 true HP:0001356 Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. HP:0001121 Asymmetry of the posterior cranium Asymmetry of the posterior head Asymmetry of the posterior skull Flat head Rhomboid shaped head SNOMEDCT_US:21850008 SNOMEDCT_US:254024005 UMLS:C0265529 UMLS:C1450010 UMLS:C4072830 UMLS:C4280597 UMLS:C4280598 UMLS:C4280807 Flat head syndrome Flattening of cranial vault Flattening of cranium Flattening of skull Rhomboid shaped cranium Rhomboid shaped skull Deformational plagiocephaly Flattening of head Positional plagiocephaly human_phenotype HP:0001357 Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. Plagiocephaly HP:0001357 Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. PMID:19125436 Asymmetry of the posterior cranium https://orcid.org/0000-0001-5889-4463 Asymmetry of the posterior head https://orcid.org/0000-0001-5889-4463 Asymmetry of the posterior skull https://orcid.org/0000-0001-5889-4463 Flat head https://orcid.org/0000-0002-5316-1399 Rhomboid shaped head https://orcid.org/0000-0001-5889-4463 Flat head syndrome https://orcid.org/0000-0001-5889-4463 Flattening of cranial vault https://orcid.org/0000-0001-5889-4463 Flattening of cranium https://orcid.org/0000-0001-5889-4463 Flattening of skull https://orcid.org/0000-0001-5889-4463 Rhomboid shaped cranium https://orcid.org/0000-0001-5889-4463 Rhomboid shaped skull https://orcid.org/0000-0001-5889-4463 Deformational plagiocephaly https://orcid.org/0000-0001-5889-4463 Flattening of head https://orcid.org/0000-0001-5889-4463 Positional plagiocephaly https://orcid.org/0000-0001-5889-4463 true HP:0001358 true HP:0001359 Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. HP:0009807 Fyler:4338 SNOMEDCT_US:30915001 UMLS:C0079541 Single brain ventricle human_phenotype HP:0001360 The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. Holoprosencephaly HP:0001360 Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. https://orcid.org/0000-0002-0736-9199 Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. UMLS:C4025788 human_phenotype HP:0001361 Nystagmus-induced head nodding HP:0001361 Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. https://orcid.org/0000-0002-0736-9199 A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. UMLS:C4025787 UMLS:C4280595 UMLS:C4280596 Cranial defect Skull defect Calvarial defect human_phenotype HP:0001362 Calvarial skull defect HP:0001362 A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. https://orcid.org/0000-0002-0736-9199 Cranial defect https://orcid.org/0000-0001-5889-4463 Skull defect Calvarial defect https://orcid.org/0000-0001-5889-4463 Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. HP:0001365 HP:0004494 HP:0005448 HP:0005457 HP:0005467 HP:0008492 Deformity of the skull Fyler:4336 SNOMEDCT_US:57219006 UMLS:C0010278 UMLS:C0235942 Cranial suture synostosis Craniosyostosis Early fusion of cranial sutures Premature closure of cranial sutures Premature suture closure human_phenotype Craniostenosis HP:0001363 Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. Craniosynostosis HP:0001363 Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. https://orcid.org/0000-0002-0736-9199 Deformity of the skull https://en.wikipedia.org/wiki/Craniosynostosis https://orcid.org/0000-0002-9353-5498 Cranial suture synostosis https://orcid.org/0000-0001-5889-4463 Premature suture closure https://orcid.org/0000-0001-5208-3432 true HP:0001364 true HP:0001365 true HP:0001366 An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. SNOMEDCT_US:399269003 UMLS:C0022408 UMLS:C0240083 Abnormal shape of joints Abnormality of the joints Anomaly of the joints human_phenotype Joint disease HP:0001367 Abnormal joint morphology HP:0001367 An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. https://orcid.org/0000-0002-0736-9199 Abnormal shape of joints https://orcid.org/0000-0001-5208-3432 Abnormality of the joints Anomaly of the joints Joint disease true HP:0001368 Inflammation of a joint. SNOMEDCT_US:3723001 UMLS:C0003864 Arthritis Joint inflammation human_phenotype HP:0001369 Arthritis HP:0001369 Inflammation of a joint. https://orcid.org/0000-0002-0736-9199 Arthritis Joint inflammation https://orcid.org/0000-0002-6548-5200 Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. SNOMEDCT_US:69896004 UMLS:C0003873 RA Rheumatoid arthritis human_phenotype HP:0001370 Rheumatoid arthritis HP:0001370 Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. https://orcid.org/0000-0002-0736-9199 RA Rheumatoid arthritis A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. HP:0001372 HP:0001381 HP:0005053 HP:0005189 HP:0005660 SNOMEDCT_US:203598005 SNOMEDCT_US:385522000 SNOMEDCT_US:55033002 SNOMEDCT_US:57048009 SNOMEDCT_US:7890003 SNOMEDCT_US:88565003 UMLS:C0009917 UMLS:C0009918 UMLS:C0333068 UMLS:C1850530 Flexed joint that cannot be straightened Flexion contractures Flexion contractures of joints human_phenotype HP:0001371 Flexion contracture HP:0001371 A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. https://orcid.org/0000-0002-0736-9199 Flexed joint that cannot be straightened true HP:0001372 Displacement or malalignment of joints. HP:0002772 HP:0005837 SNOMEDCT_US:108367008 SNOMEDCT_US:87642003 UMLS:C0012691 Joint dislocation Joint dislocations human_phenotype HP:0001373 Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. Joint dislocation HP:0001373 Displacement or malalignment of joints. https://orcid.org/0000-0002-0736-9199 Joint dislocation Joint dislocations https://orcid.org/0000-0002-5316-1399 SNOMEDCT_US:48334007 SNOMEDCT_US:52781008 UMLS:C0019555 Congenital dislocation of the hip Congenital dislocation of the hips Congenital hip anomaly Congenital hip dislocations Dislocated hip since birth human_phenotype HP:0001374 Congenital hip dislocation HP:0001374 Dislocated hip since birth https://orcid.org/0000-0001-5208-3432 true HP:0001375 A reduction in the freedom of movement of one or more joints. HP:0003101 UMLS:C1857108 Decreased joint mobility Decreased mobility of joints Limitation of joint mobility Limited joint mobility Limited joint motion human_phenotype HP:0001376 Limitation of joint mobility HP:0001376 A reduction in the freedom of movement of one or more joints. https://orcid.org/0000-0002-0736-9199 Decreased joint mobility Decreased mobility of joints Limitation of joint mobility Limited joint mobility Limited joint motion Limited ability to straighten the arm at the elbow joint. HP:0005073 UMLS:C1867103 Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited elbow extension Limited extension at elbows Limited forearm extension Reduced elbow extension Restricted elbow extension human_phenotype HP:0001377 Limited elbow extension HP:0001377 Limited ability to straighten the arm at the elbow joint. https://orcid.org/0000-0002-0736-9199 Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension true HP:0001378 HP:0002758 human_phenotype HP:0001379 obsolete Degenerative joint disease true HP:0001379 HP:0001382 human_phenotype HP:0001380 obsolete Ligamentous laxity true HP:0001380 true HP:0001381 The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. HP:0001378 HP:0001380 HP:0001383 HP:0001388 HP:0002771 HP:0005034 HP:0005692 SNOMEDCT_US:298181000 UMLS:C1844820 Double-Jointed Extensible joints Flexible joints Hyperextensible joints Increased joint mobility Increased mobility of joints Joint hyperextensibility Joint hyperflexibility Joint hyperlaxity Joint laxity Joints move beyond expected range of motion Lax joints Loose-jointedness human_phenotype Joint instability Joint ligamentous laxity Ligamentous laxity HP:0001382 Synonyms of joint hypermobility (JH) include joint laxity and double-jointedness. In general terms, joint hyperlaxity is often considered a further synonym of JH. JH may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. Establishing whether a joint is hypermobile or not is a relatively easy task and it is carried out by (i) using professional tools, such as the orthopedic goniometer; (ii) following specific procedures; and (iii) comparing the measured range of motion (ROM) with normal parameters. When JH is observed at one or a few types of joints (usually fewer than five) it may be defined as localized joint hypermobility (LJH). Typically, LJH affects a single small or large joint and may be bilateral (e.g., bilateral genu recurvatum due to knee hyperextensibility). LJH may be inherited, but it may be an acquired trait related to, for example, past trauma, joint disease, surgery, or training (e.g., spine hypermobility). In individuals with JH at multiple sites (usually five or more), the term generalized joint hypermobility (GJH) is preferred. Joint hypermobility HP:0001382 The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. PMID:28145606 https://orcid.org/0000-0002-0736-9199 Double-Jointed Flexible joints Increased mobility of joints Joints move beyond expected range of motion Lax joints Loose-jointedness true HP:0001383 An abnormality of the hip joint. UMLS:C4020870 Abnormality of the hip joint human_phenotype Abnormality of the hip joints HP:0001384 Abnormal hip joint morphology HP:0001384 An abnormality of the hip joint. https://orcid.org/0000-0002-0736-9199 Abnormality of the hip joint Abnormality of the hip joints The presence of developmental dysplasia of the hip. HP:0008787 Abnormal formation of the hip SNOMEDCT_US:48334007 SNOMEDCT_US:52781008 UMLS:C0019555 Congenital hip dysplasia DDH Developmental dysplasia of the hip human_phenotype HP:0001385 Hip dysplasia HP:0001385 The presence of developmental dysplasia of the hip. https://orcid.org/0000-0002-0736-9199 Abnormal formation of the hip https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 DDH SNOMEDCT_US:271771009 UMLS:C0152031 Joint swelling human_phenotype HP:0001386 Joint swelling HP:0001386 Joint swelling Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. HP:0002775 HP:0003033 SNOMEDCT_US:84445001 UMLS:C0162298 Joint stiffness Stiff joint Stiff joints human_phenotype HP:0001387 Joint stiffness HP:0001387 Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. https://orcid.org/0000-0002-0736-9199 Joint stiffness Stiff joint Stiff joints HP:0001382 human_phenotype HP:0001388 obsolete Joint laxity true HP:0001388 true HP:0001389 true HP:0001390 true HP:0001391 An abnormality of the liver. SNOMEDCT_US:235856003 UMLS:C0023895 UMLS:C4021780 Abnormal liver Abnormality of the liver Liver abnormality human_phenotype Liver disease HP:0001392 Abnormality of the liver HP:0001392 An abnormality of the liver. https://orcid.org/0000-0002-0736-9199 Abnormal liver Abnormality of the liver Liver abnormality Liver disease true HP:0001393 A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. SNOMEDCT_US:19943007 UMLS:C0023890 Hepatic cirrhosis Scar tissue replaces healthy tissue in the liver human_phenotype Liver cirrhosis HP:0001394 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. Cirrhosis HP:0001394 A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. https://orcid.org/0000-0002-0736-9199 Scar tissue replaces healthy tissue in the liver https://orcid.org/0000-0002-6548-5200 Liver cirrhosis https://orcid.org/0000-0002-5316-1399 The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. SNOMEDCT_US:62484002 UMLS:C0239946 Liver fibrosis human_phenotype HP:0001395 Hepatic fibrosis HP:0001395 The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. https://orcid.org/0000-0002-0736-9199 Impairment of bile flow due to obstruction in bile ducts. SNOMEDCT_US:197446008 SNOMEDCT_US:30144000 SNOMEDCT_US:33688009 UMLS:C0008370 Slowed or blocked flow of bile from liver human_phenotype HP:0001396 Cholestasis HP:0001396 Impairment of bile flow due to obstruction in bile ducts. https://orcid.org/0000-0002-0736-9199 Slowed or blocked flow of bile from liver https://orcid.org/0000-0002-6548-5200 Steatosis is a term used to denote lipid accumulation within hepatocytes. HP:0002252 HP:0200121 SNOMEDCT_US:197321007 SNOMEDCT_US:442191002 UMLS:C2711227 Fatty infiltration of liver Fatty liver Liver steatosis Steatosis human_phenotype HP:0001397 Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. Hepatic steatosis HP:0001397 Steatosis is a term used to denote lipid accumulation within hepatocytes. PMID:31603713 https://orcid.org/0000-0002-0736-9199 Fatty infiltration of liver Fatty liver true HP:0001398 SNOMEDCT_US:59927004 UMLS:C0085605 Hepatic insufficiency Liver failure human_phenotype HP:0001399 Hepatic failure HP:0001399 Liver failure HP:0100523 human_phenotype HP:0001400 obsolete Hepatic abscesses due to immunodeficiency true HP:0001400 UMLS:C1859235 human_phenotype HP:0001401 Intrahepatic biliary dysgenesis HP:0001401 A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. HP:0002899 HP:0003007 HP:0006750 NCIT:C3099 SNOMEDCT_US:109841003 SNOMEDCT_US:187769009 SNOMEDCT_US:25370001 UMLS:C1862761 UMLS:C1867955 UMLS:C2239176 human_phenotype Increased hepatocellular carcinoma risk Increased incidence of hepatocellular carcinoma HP:0001402 Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. Hepatocellular carcinoma HP:0001402 A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. https://orcid.org/0000-0002-0736-9199 A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. UMLS:C1837256 Macrovesicular steatosis human_phenotype HP:0001403 Macrovesicular hepatic steatosis HP:0001403 A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. https://orcid.org/0000-0002-0736-9199 UMLS:C1855038 Death of liver cells Hepatocellular loss human_phenotype HP:0001404 Hepatocellular necrosis HP:0001404 Death of liver cells https://orcid.org/0000-0001-5208-3432 The presence of fibrosis affecting the interlobular stroma of liver. UMLS:C1849766 human_phenotype HP:0001405 Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. Periportal fibrosis HP:0001405 The presence of fibrosis affecting the interlobular stroma of liver. https://orcid.org/0000-0002-0736-9199 Impairment of bile flow due to obstruction in the small bile ducts within the liver. Impaired release of bile from liver SNOMEDCT_US:4637005 UMLS:C0008372 human_phenotype HP:0001406 Intrahepatic cholestasis HP:0001406 Impairment of bile flow due to obstruction in the small bile ducts within the liver. https://orcid.org/0000-0002-0736-9199 Impaired release of bile from liver https://orcid.org/0000-0002-6548-5200 SNOMEDCT_US:85057007 UMLS:C0267834 Liver cysts human_phenotype HP:0001407 Hepatic cysts HP:0001407 Liver cysts Proliferative changes of the bile ducts. SNOMEDCT_US:20239009 UMLS:C0267818 Proliferation of bile canaliculi human_phenotype HP:0001408 Bile duct proliferation HP:0001408 Proliferative changes of the bile ducts. https://orcid.org/0000-0002-0736-9199 Increased pressure in the portal vein. SNOMEDCT_US:34742003 UMLS:C0020541 human_phenotype HP:0001409 Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. Portal hypertension HP:0001409 Increased pressure in the portal vein. https://orcid.org/0000-0002-0736-9199 Reduced ability of the liver to perform its functions. HP:0004393 HP:0005228 HP:0006570 SNOMEDCT_US:75183008 SNOMEDCT_US:77981007 UMLS:C0086565 UMLS:C0232744 UMLS:C3279149 Decreased liver function Liver dysfunction human_phenotype Hepatopathy Liver dysfunction, mild HP:0001410 Decreased liver function HP:0001410 Reduced ability of the liver to perform its functions. https://orcid.org/0000-0002-0736-9199 Decreased liver function Liver dysfunction Liver dysfunction, mild https://orcid.org/0000-0002-5316-1399 true HP:0001411 Inflammation of the liver due to infection with enterovirus. UMLS:C1843995 human_phenotype HP:0001412 Enteroviral hepatitis HP:0001412 Inflammation of the liver due to infection with enterovirus. PMID:15056237 A type of cirrhosis characterized by the presence of small regenerative nodules. SNOMEDCT_US:21861000 UMLS:C0267812 human_phenotype HP:0001413 In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. Micronodular cirrhosis HP:0001413 A type of cirrhosis characterized by the presence of small regenerative nodules. https://orcid.org/0000-0002-0736-9199 A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. UMLS:C1850415 Microvesicular steatosis human_phenotype HP:0001414 This finding can be demonstrated by liver biopsy. Microvesicular hepatic steatosis HP:0001414 A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. https://orcid.org/0000-0002-0736-9199 true HP:0001415 true HP:0001416 A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. HP:0001418 SNOMEDCT_US:263934009 UMLS:C0241764 X-linked monoallelic_X human_phenotype X-linked form HP:0001417 X-linked inheritance HP:0001417 A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. https://orcid.org/0000-0002-0736-9199 X-linked form https://orcid.org/0000-0002-5316-1399 true HP:0001418 A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. UMLS:C1845977 X-linked recessive monoallelic_X_hemizygous human_phenotype HP:0001419 An X-linked recessive condition would be curated as monoallelic_X_hemizygous and we would understand that those diseases are most commonly observed in males and may not fully manifest when heterozygous in females. Although they can manifest with ameliorated phenotype or manifest if skewed inactivation, etc., we intend that this is implicit in the term as characteristic of many sex-linked disorders and do not anticipate that an additional qualifier term is needed to communicate this, unless the heterozygous phenotype is sufficiently distinct as to be classified as a different disease entity. It is also implicit that monoallelic variants in females with chromosomal anomalies (eg, 45,X) and biallelic variants in females would also meet the allelic requirement. X-linked recessive inheritance HP:0001419 A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. https://orcid.org/0000-0002-0736-9199 X-linked recessive https://orcid.org/0000-0002-5316-1399 true HP:0001420 2008-04-07T10:59:00Z UMLS:C4025786 Abnormal hand muscles human_phenotype HP:0001421 Abnormality of the musculature of the hand HP:0001421 Abnormal hand muscles https://orcid.org/0000-0001-5208-3432 true HP:0001422 A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. UMLS:C1847879 X-linked dominant monoallelic_X_heterozygous human_phenotype HP:0001423 An X-linked dominant condition would be curated as monoallelic_X_heterozygous and we would understand that those diseases will manifest in heterozygous females and hemizygous males. Disease or affected males may be rarely observed if hemizygosity of the variant allele is extremely severe or lethal. Similarly, homozygous/compound heterozygous females may be seen with more severe manifestations. X-linked dominant inheritance HP:0001423 A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. https://orcid.org/0000-0002-0736-9199 X-linked dominant https://orcid.org/0000-0002-5316-1399 true HP:0001424 HP:0000005 Genetic heterogeneity human_phenotype HP:0001425 obsolete Heterogeneous true HP:0001425 A mode of inheritance that depends on genetic determinants in more than one gene. HP:0001429 HP:0001472 UMLS:C0600599 human_phenotype Familial predisposition HP:0001426 The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two. Non-Mendelian inheritance HP:0001426 A mode of inheritance that depends on genetic determinants in more than one gene. https://orcid.org/0000-0002-0736-9199 A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). HP:0001431 HP:0001458 HP:0001506 UMLS:C0887941 Mitochondrial mitochondrial human_phenotype HP:0001427 Mitochondrial inheritance HP:0001427 A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). https://orcid.org/0000-0002-0736-9199 mitochondrial HP:0001442 human_phenotype HP:0001428 obsolete Somatic mutation true HP:0001428 true HP:0001429 2008-04-07T10:18:00Z HP:0004300 UMLS:C4021779 Abnormal calf muscles Abnormality of calf musculature human_phenotype HP:0001430 Abnormal calf musculature morphology HP:0001430 Abnormal calf muscles https://orcid.org/0000-0001-5208-3432 true HP:0001431 true HP:0001432 Simultaneous enlargement of the liver and spleen. 2008-02-20T10:51:00Z SNOMEDCT_US:36760000 UMLS:C0019214 Enlarged liver and spleen human_phenotype HP:0001433 Hepatosplenomegaly HP:0001433 Simultaneous enlargement of the liver and spleen. https://orcid.org/0000-0002-0736-9199 Enlarged liver and spleen https://orcid.org/0000-0001-5208-3432 true HP:0001434 A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint. 2008-04-07T10:19:00Z HP:0004301 UMLS:C4021778 human_phenotype HP:0001435 The shoulder girdle is composed of the clavicle and the scapula, which articulates with the proximal humerus of the upper limb. The muscles of the shoulder girdle include the trapezius, the major and minor rhomboids, the serratus anterior, and the levator scapulae. Abnormality of the shoulder girdle musculature HP:0001435 A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint. PMID:30725618 An anomaly of the musculature of foot. 2008-04-07T10:21:00Z UMLS:C4025785 Abnormal foot muscles human_phenotype HP:0001436 Abnormality of the foot musculature HP:0001436 An anomaly of the musculature of foot. https://orcid.org/0000-0002-0736-9199 Abnormal foot muscles https://orcid.org/0000-0001-5208-3432 2008-04-07T10:21:00Z UMLS:C4025784 human_phenotype HP:0001437 Abnormality of the musculature of the lower limbs HP:0001437 A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. UMLS:C4020869 Abnormality of abdomen morphology Abnormality of abdomen structure Abnormality of the abdomen human_phenotype Abdomen abnormality HP:0001438 Abnormal abdomen morphology HP:0001438 A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. https://orcid.org/0000-0002-0736-9199 Abnormality of abdomen structure Abdomen abnormality true HP:0001439 2008-04-17T02:36:00Z HP:0004705 HP:0008098 UMLS:C1862697 Fusion of metatarsals Fusion of the long bones of the feet Synostosis involving metatarsal bones human_phenotype HP:0001440 Metatarsal synostosis HP:0001440 Fusion of the long bones of the feet https://orcid.org/0000-0001-5208-3432 2008-04-07T10:27:00Z UMLS:C4025783 Abnormal thigh muscles Abnormality of the musculature of the thigh human_phenotype HP:0001441 Abnormality thigh musculature morphology HP:0001441 Abnormal thigh muscles https://orcid.org/0000-0001-5208-3432 Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. HP:0001428 HP:0001444 UMLS:C1866227 Autosomal dominant somatic cell mutation Somatic mosaicism Somatic mutation human_phenotype HP:0001442 A much lower variant allele fraction (VAF) cutoff would be needed in genomic analysis pipelines as compared with the threshold required for constitutional variants. Typified by somatic mosaicism HP:0001442 Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. PMID:12360233 https://orcid.org/0000-0002-0736-9199 2008-04-07T10:31:00Z UMLS:C4025782 Abnormality of glutes human_phenotype HP:0001443 Abnormality of the gluteal musculature HP:0001443 Abnormality of glutes https://orcid.org/0000-0001-5208-3432 HP:0001442 human_phenotype HP:0001444 obsolete Autosomal dominant somatic cell mutation true HP:0001444 2008-04-07T10:31:00Z UMLS:C4025780 human_phenotype HP:0001445 Abnormality of the hip-girdle musculature HP:0001445 2008-04-07T10:40:00Z UMLS:C4025779 Abnormal upper limb muscles human_phenotype HP:0001446 Abnormality of the musculature of the upper limbs HP:0001446 Abnormal upper limb muscles https://orcid.org/0000-0001-5208-3432 true HP:0001447 true HP:0001448 2008-04-17T02:37:00Z UMLS:C4025778 Duplication of long bones of foot human_phenotype HP:0001449 Duplication of metatarsal bones HP:0001449 Duplication of long bones of foot https://orcid.org/0000-0001-5208-3432 A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. UMLS:C0814045 Y-linked monoallelic_Y_hemizygous human_phenotype HP:0001450 Y-linked inheritance HP:0001450 A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. https://orcid.org/0000-0002-0736-9199 monoallelic_Y_hemizygous true HP:0001451 HP:0000006 human_phenotype HP:0001452 obsolete Autosomal dominant contiguous gene syndrome true HP:0001452 true HP:0001453 2008-04-07T10:41:00Z UMLS:C4025776 human_phenotype HP:0001454 Abnormality of the upper arm HP:0001454 true HP:0001455 true HP:0001456 2008-04-07T10:42:00Z UMLS:C4025775 human_phenotype HP:0001457 Abnormality of the musculature of the upper arm HP:0001457 true HP:0001458 Syndactyly with fusion of toes one to three. UMLS:C4025774 Webbed 1st-3rd toes human_phenotype HP:0001459 1-3 toe syndactyly HP:0001459 Syndactyly with fusion of toes one to three. https://orcid.org/0009-0006-4530-3154 Webbed 1st-3rd toes https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the musculature. 2008-04-07T10:46:00Z UMLS:C4025773 Absent/small skeletal muscles Absent/underdeveloped skeletal muscles human_phenotype HP:0001460 Aplasia/Hypoplasia involving the skeletal musculature HP:0001460 Absence or underdevelopment of the musculature. https://orcid.org/0000-0002-0736-9199 Absent/small skeletal muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped skeletal muscles https://orcid.org/0000-0001-5208-3432 true HP:0001461 true HP:0001462 true HP:0001463 Absence or underdevelopment of the muscles of the shoulder. 2008-04-07T10:49:00Z UMLS:C4025772 Absent/small shoulder muscles Absent/underdeveloped shoulder muscles human_phenotype HP:0001464 Aplasia/Hypoplasia involving the shoulder musculature HP:0001464 Absence or underdevelopment of the muscles of the shoulder. https://orcid.org/0000-0002-0736-9199 Absent/small shoulder muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped shoulder muscles https://orcid.org/0000-0001-5208-3432 2008-04-07T10:50:00Z UMLS:C4025771 Shoulder muscle degeneration Wasting of shoulder muscles human_phenotype HP:0001465 Amyotrophy involving the shoulder musculature HP:0001465 Shoulder muscle degeneration https://orcid.org/0000-0001-5208-3432 Wasting of shoulder muscles https://orcid.org/0000-0001-5208-3432 A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes UMLS:C1855496 human_phenotype HP:0001466 Examples of contiguous gene synmdromes include Prader-Willi syndrome, Angelman syndrome, and Williams syndrome. Contiguous gene syndrome HP:0001466 Absence or underdevelopment of the musculature of the upper limbs. 2008-04-07T10:51:00Z UMLS:C4025770 Absent/small upper limb muscles Absent/underdeveloped upper limb muscles human_phenotype HP:0001467 Aplasia/Hypoplasia involving the musculature of the upper limbs HP:0001467 Absence or underdevelopment of the musculature of the upper limbs. https://orcid.org/0000-0002-0736-9199 Absent/small upper limb muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped upper limb muscles https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the muscles of the upper arm. 2008-04-07T10:52:00Z UMLS:C4025769 Absent/small upper arm muscles Absent/underdeveloped upper arm muscles human_phenotype HP:0001468 Aplasia/Hypoplasia involving the musculature of the upper arm HP:0001468 Absence or underdevelopment of the muscles of the upper arm. https://orcid.org/0000-0002-0736-9199 Absent/small upper arm muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped upper arm muscles https://orcid.org/0000-0001-5208-3432 2008-04-07T10:55:00Z UMLS:C4025768 Abnormality of the musculature of the pelvis human_phenotype HP:0001469 Abnormal morphology of the pelvis musculature HP:0001469 Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex. UMLS:C4025767 human_phenotype HP:0001470 Sex-limited expression HP:0001470 2008-04-07T10:56:00Z UMLS:C4025766 Absent/small pelvis muscles Absent/underdeveloped pelvis muscles human_phenotype HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvis HP:0001471 Absent/small pelvis muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pelvis muscles https://orcid.org/0000-0001-5208-3432 HP:0001426 human_phenotype HP:0001472 obsolete Familial predisposition true HP:0001472 Osteolysis involving metatarsal bones. 2008-04-17T02:38:00Z HP:0001866 UMLS:C1854614 Osteolysis involving metatarsal bones human_phenotype HP:0001473 Metatarsal osteolysis HP:0001473 Osteolysis involving metatarsal bones. https://orcid.org/0000-0002-0736-9199 Increased density of the bony tissue of the scapula. UMLS:C1849263 human_phenotype HP:0001474 Sclerotic scapulae HP:0001474 Increased density of the bony tissue of the scapula. https://orcid.org/0000-0002-0736-9199 Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex. UMLS:C4025764 human_phenotype HP:0001475 Male-limited expression HP:0001475 A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Delayed closure of the soft spot on the skull Late closure of soft spot on the skull SNOMEDCT_US:295091000119100 UMLS:C3840083 UMLS:C4072831 Delayed closure anterior fontanel Delayed closure of anterior fontanelle Delayed closure of the bregma sutures Late closure of anterior fontanelle Late closure of large anterior fontanel Late closure of the bregma sutures Later than typical closing of soft spot of skull Persistent anterior fontanelle human_phenotype HP:0001476 Delayed closure of the anterior fontanelle HP:0001476 A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. https://orcid.org/0000-0002-0736-9199 Delayed closure of the soft spot on the skull https://orcid.org/0000-0001-5889-4463 Late closure of soft spot on the skull https://orcid.org/0000-0001-5889-4463 Delayed closure of the bregma sutures https://orcid.org/0000-0001-5889-4463 Late closure of anterior fontanelle https://orcid.org/0000-0001-5889-4463 Late closure of the bregma sutures https://orcid.org/0000-0001-5889-4463 Later than typical closing of soft spot of skull https://orcid.org/0000-0002-6548-5200 A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. UMLS:C1846911 Compensatory head tilt/chin elevation human_phenotype HP:0001477 Compensatory chin elevation HP:0001477 A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. https://orcid.org/0000-0002-0736-9199 true HP:0001478 true HP:0001479 The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. SNOMEDCT_US:403536009 SNOMEDCT_US:699225003 UMLS:C0016689 Freckling human_phenotype HP:0001480 Freckling HP:0001480 Freckling true HP:0001481 Slightly elevated lesions on or in the skin with a diameter of over 5 mm. HP:0005903 Nodule below the skin SNOMEDCT_US:95325000 UMLS:C0151811 UMLS:C0746926 Firm lump under the skin Growth of abnormal tissue under the skin human_phenotype Multiple, subcutaneous nodules Subcutaneous nodules HP:0001482 Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. Subcutaneous nodule HP:0001482 Slightly elevated lesions on or in the skin with a diameter of over 5 mm. https://orcid.org/0000-0002-0736-9199 Nodule below the skin https://orcid.org/0000-0001-5208-3432 Firm lump under the skin https://orcid.org/0000-0002-6548-5200 Growth of abnormal tissue under the skin https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Subcutaneous nodules Repetitive pressing, poking, and/or rubbing in the eyes. SNOMEDCT_US:78894008 UMLS:C0233593 Blindism Eye pressing Ocular auto-stimulation Oculodigital phenomenon human_phenotype HP:0001483 Eye poking is usually observed in children with an intellectual and visual handicap. Eye poking HP:0001483 Repetitive pressing, poking, and/or rubbing in the eyes. PMID:8157154 Blindism https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Eye pressing https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Ocular auto-stimulation https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Oculodigital phenomenon https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 true HP:0001484 true HP:0001485 true HP:0001486 HP:0007894 human_phenotype HP:0001487 obsolete Hypopigmented fundi true HP:0001487 UMLS:C1865916 Drooping of both upper eyelids human_phenotype HP:0001488 Bilateral ptosis HP:0001488 Drooping of both upper eyelids https://orcid.org/0000-0001-5208-3432 Separation of the vitreous humor from the retina. SNOMEDCT_US:247081001 UMLS:C0423361 Vitreous detachment human_phenotype HP:0001489 The vitreous humor is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment. Posterior vitreous detachment HP:0001489 Separation of the vitreous humor from the retina. PMID:24376338 https://orcid.org/0000-0002-0736-9199 true HP:0001490 Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. SNOMEDCT_US:400946004 UMLS:C1302995 CFEOM Congenital fibrosis of the extraocular muscles Congenital ophthalmoplegia human_phenotype HP:0001491 Congenital fibrosis of extraocular muscles HP:0001491 Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. https://orcid.org/0000-0002-0736-9199 CFEOM https://orcid.org/0000-0002-5316-1399 Congenital ophthalmoplegia http://www.omim.org/entry/135700 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. SNOMEDCT_US:204152008 UMLS:C0266548 human_phenotype HP:0001492 Axenfeld anomaly HP:0001492 Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. https://orcid.org/0000-0002-0736-9199 An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. HP:0008013 SNOMEDCT_US:204181009 UMLS:C0344550 Congenital retinal fold human_phenotype HP:0001493 Falciform retinal fold HP:0001493 An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0001494 Osteolysis affecting carpal bones. UMLS:C1833734 Carpal bone osteolysis human_phenotype HP:0001495 Carpal osteolysis HP:0001495 Osteolysis affecting carpal bones. https://orcid.org/0000-0002-0736-9199 true HP:0001496 true HP:0001497 Underdevelopment of one or more carpal bones. HP:0001209 HP:0006029 HP:0006072 HP:0006117 HP:0006130 HP:0006227 Small wrist bones UMLS:C1863749 UMLS:C4280594 Hypoplasia of carpal bones Hypoplastic carpal bones Small carpal bones Small carpals human_phenotype HP:0001498 Carpal bone hypoplasia HP:0001498 Underdevelopment of one or more carpal bones. https://orcid.org/0000-0002-0736-9199 Small wrist bones https://orcid.org/0000-0001-5208-3432 Small carpal bones Small carpals true HP:0001499 Increased width of a non-thumb digit of the hand. HP:0001497 UMLS:C1844906 Broad finger Broad fingers Wide fingers human_phenotype HP:0001500 Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". Broad finger HP:0001500 Increased width of a non-thumb digit of the hand. PMID:19125433 Broad finger Broad fingers Wide fingers UMLS:C1861360 6 long bones of hand human_phenotype HP:0001501 6 metacarpals HP:0001501 6 long bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0001502 true HP:0001503 UMLS:C1854610 Metacarpals osteolysis human_phenotype HP:0001504 Metacarpal osteolysis HP:0001504 true HP:0001505 true HP:0001506 HP:0008904 UMLS:C0262361 Abnormal growth Growth abnormality Growth issue human_phenotype HP:0001507 Growth abnormality HP:0001507 Abnormal growth Growth abnormality Growth issue Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. HP:0001535 HP:0008853 HP:0008878 HP:0008916 Undergrowth SNOMEDCT_US:36440009 SNOMEDCT_US:432788009 UMLS:C0231246 UMLS:C2315100 FTT Faltering weight Postnatal failure to thrive Weight faltering human_phenotype Poor weight gain HP:0001508 Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). Failure to thrive HP:0001508 Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. https://orcid.org/0000-0002-0736-9199 Undergrowth FTT Faltering weight https://orcid.org/0000-0001-5208-3432 Weight faltering https://orcid.org/0000-0001-5208-3432 Poor weight gain true HP:0001509 A deficiency or slowing down of growth pre- and postnatally. HP:0001434 HP:0001512 HP:0001514 HP:0001517 HP:0001532 HP:0008847 HP:0008870 HP:0008886 HP:0008893 HP:0008926 SNOMEDCT_US:276617005 SNOMEDCT_US:444896005 SNOMEDCT_US:59576002 UMLS:C0151686 UMLS:C0456070 UMLS:C0878787 UMLS:C1837385 UMLS:C3552463 Delayed growth Growth deficiency Growth delay Growth failure Growth retardation Poor growth Retarded growth human_phenotype Very poor growth HP:0001510 Poor or abnormally slow gains in weight or height in a child. Growth delay HP:0001510 A deficiency or slowing down of growth pre- and postnatally. https://orcid.org/0000-0002-0736-9199 Delayed growth Growth deficiency Growth delay Growth failure Growth retardation Poor growth Retarded growth Very poor growth https://orcid.org/0000-0002-5316-1399 An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. HP:0001515 HP:0008862 HP:0008892 HP:0008931 SNOMEDCT_US:199612005 SNOMEDCT_US:22033007 UMLS:C0015934 UMLS:C0021296 UMLS:C1386048 FGR Fetal growth restriction IUGR In utero growth retardation Intrauterine growth failure Intrauterine growth restriction Intrauterine growth retardation, IUGR Intrauterine retardation Prenatal growth deficiency Prenatal growth failure Prenatal growth retardation Prenatal onset growth retardation Prenatal-onset growth retardation Small for gestational age infant human_phenotype HP:0001511 Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. Intrauterine growth retardation HP:0001511 An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. https://orcid.org/0000-0002-0736-9199 FGR IUGR https://orcid.org/0000-0002-5316-1399 Prenatal growth deficiency Prenatal growth retardation true HP:0001512 Accumulation of substantial excess body fat. SNOMEDCT_US:414915002 SNOMEDCT_US:414916001 UMLS:C0028754 Having too much body fat Obesity human_phenotype HP:0001513 Obesity HP:0001513 Having too much body fat https://orcid.org/0000-0002-6548-5200 Obesity true HP:0001514 true HP:0001515 true HP:0001516 true HP:0001517 Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. HP:0001422 HP:0008849 HP:0008919 HP:0008927 SNOMEDCT_US:267258002 SNOMEDCT_US:276610007 UMLS:C0024032 UMLS:C0235991 Birth weight less than 10th percentile Low birth weight Small for gestational age human_phenotype HP:0001518 Small for gestational age HP:0001518 Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. https://orcid.org/0000-0002-6410-0882 Birth weight less than 10th percentile Low birth weight Small for gestational age A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. HP:0003511 HP:0008864 SNOMEDCT_US:62250003 UMLS:C0003706 UMLS:C1836996 Dolichostenomelia Marfanoid body habitus Marfanoid habitus Reduced upper-lower segment ratio human_phenotype HP:0001519 Disproportionate tall stature HP:0001519 A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-6410-0882 The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. HP:0001825 UMLS:C1848395 Birth weight > 90th percentile Birthweight > 90th percentile Fetal macrosomia Foetal macrosomia Macrosomia Macrosomia, neonatal human_phenotype HP:0001520 Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. Large for gestational age HP:0001520 The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. eMedicine:262679 https://orcid.org/0000-0002-0736-9199 Birth weight > 90th percentile Birthweight > 90th percentile Foetal macrosomia Macrosomia, neonatal https://orcid.org/0000-0002-5316-1399 true HP:0001521 Death within the first 24 months of life. HP:0003816 HP:0003817 HP:0003818 HP:0003823 HP:0003827 UMLS:C1844947 UMLS:C1858430 Death in infancy Infantile death Lethal in infancy human_phenotype Death in early childhood HP:0001522 Death in infancy HP:0001522 Death within the first 24 months of life. https://orcid.org/0000-0002-0736-9199 Death in infancy Infantile death Lethal in infancy Death in early childhood true HP:0001523 true HP:0001524 HP:0008876 UMLS:C1855514 Marked failure to thrive Severe faltering weight Severe postnatal failure to thrive Severe weight faltering human_phenotype HP:0001525 Severe failure to thrive HP:0001525 Severe faltering weight https://orcid.org/0000-0001-5208-3432 Severe weight faltering https://orcid.org/0000-0001-5208-3432 true HP:0001526 true HP:0001527 Overgrowth of only one side of the body. HP:0006416 SNOMEDCT_US:205838004 SNOMEDCT_US:56007004 UMLS:C0332890 Asymmetric limb hypertrophy Asymmetric overgrowth human_phenotype HP:0001528 Hemihypertrophy HP:0001528 Overgrowth of only one side of the body. https://orcid.org/0000-0002-0736-9199 Asymmetric overgrowth true HP:0001529 A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. HP:0008860 HP:0008917 UMLS:C1835580 UMLS:C3550204 Postnatal onset of mild growth retardation human_phenotype Mild growth deficiency HP:0001530 Mild postnatal growth retardation HP:0001530 A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. https://orcid.org/0000-0002-6410-0882 Mild growth deficiency HP:0008863 HP:0008925 UMLS:C1867873 Failure to thrive in first year of life Faltering weight in infancy Weight faltering in infancy human_phenotype HP:0001531 Failure to thrive in infancy HP:0001531 Faltering weight in infancy https://orcid.org/0000-0001-5208-3432 Weight faltering in infancy https://orcid.org/0000-0001-5208-3432 true HP:0001532 Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. HP:0001529 UMLS:C1850573 Asthenic habitus Slender build Thin body habitus Thin build human_phenotype HP:0001533 Slender, long-limbed habitus. Slender build HP:0001533 Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. https://orcid.org/0000-0002-0736-9199 Slender build Thin build https://orcid.org/0000-0002-6548-5200 true HP:0001534 true HP:0001535 true HP:0001536 Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Fyler:4445 SNOMEDCT_US:396347007 UMLS:C0019322 Umbilical hernias human_phenotype HP:0001537 Umbilical hernia HP:0001537 Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. https://orcid.org/0000-0002-0736-9199 A thrusting or bulging out of the abdomen. UMLS:C1854928 Abdominal protuberance Belly sticks out Extended belly human_phenotype HP:0001538 Protuberant abdomen HP:0001538 A thrusting or bulging out of the abdomen. https://orcid.org/0000-0002-0736-9199 Belly sticks out https://orcid.org/0000-0002-6548-5200 Extended belly https://orcid.org/0000-0002-6548-5200 A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Fyler:4404 MEDDRA:10030309 SNOMEDCT_US:18735004 UMLS:C0795690 Exomphalos Omphalocoele human_phenotype HP:0001539 Omphalocele HP:0001539 A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. https://orcid.org/0000-0002-0736-9199 MEDDRA:10030309 Omphalocoele A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). SNOMEDCT_US:62629000 UMLS:C0221766 Gap between large left and right abdominal muscles human_phenotype HP:0001540 Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. Diastasis recti HP:0001540 A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). https://orcid.org/0000-0002-0736-9199 Gap between large left and right abdominal muscles https://orcid.org/0000-0002-6548-5200 Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). HP:0030995 SNOMEDCT_US:389026000 UMLS:C0003962 Accumulation of fluid in the abdomen Peritoneal effusion human_phenotype HP:0001541 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. Ascites HP:0001541 Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). https://orcid.org/0000-0002-0736-9199 Accumulation of fluid in the abdomen true HP:0001542 A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. MEDDRA:10018046 SNOMEDCT_US:72951007 UMLS:C0265706 human_phenotype HP:0001543 Gastroschisis HP:0001543 A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10018046 Gastroschisis Abnormally prominent umbilicus (belly button). UMLS:C1837795 Prominent belly button Prominent navel human_phenotype HP:0001544 Prominent umbilicus HP:0001544 Abnormally prominent umbilicus (belly button). https://orcid.org/0000-0002-0736-9199 Prominent belly button https://orcid.org/0000-0001-5208-3432 Prominent navel https://orcid.org/0000-0001-5208-3432 Anterior malposition of the anus. UMLS:C1838705 Anteriorly displaced anus Anus anteposition human_phenotype HP:0001545 Anteriorly placed anus HP:0001545 Anterior malposition of the anus. https://orcid.org/0000-0002-0736-9199 true HP:0001546 A morphological anomaly of the rib cage. UMLS:C4025763 Abnormality of the rib cage human_phenotype HP:0001547 Abnormal rib cage morphology HP:0001547 A morphological anomaly of the rib cage. https://orcid.org/0000-0002-0736-9199 Abnormality of the rib cage Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. UMLS:C1849265 UMLS:C1851731 UMLS:C3150281 General overgrowth human_phenotype Generalised overgrowth Generalized overgrowth HP:0001548 Overgrowth HP:0001548 Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. https://orcid.org/0000-0002-0736-9199 General overgrowth Generalised overgrowth Generalized overgrowth https://orcid.org/0000-0002-5316-1399 2008-02-20T11:05:00Z UMLS:C4025762 Abnormality of the ileum human_phenotype HP:0001549 Abnormal ileum morphology HP:0001549 true HP:0001550 An abnormality of the structure or appearance of the umbilicus. UMLS:C1849338 Abnormal belly button Abnormal navel Abnormal umbilicus human_phenotype HP:0001551 The umbilicus is also known as the belly button or the navel. Abnormal umbilicus morphology HP:0001551 An abnormality of the structure or appearance of the umbilicus. https://orcid.org/0000-0002-0736-9199 Abnormal belly button https://orcid.org/0000-0001-5208-3432 Abnormal navel https://orcid.org/0000-0001-5208-3432 A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. HP:0000781 HP:0001553 SNOMEDCT_US:24228002 UMLS:C0264172 Barrel chest Barrel-shaped chest human_phenotype HP:0001552 Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. Barrel-shaped chest HP:0001552 A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. https://orcid.org/0000-0002-0736-9199 Barrel chest Barrel-shaped chest true HP:0001553 true HP:0001554 Lack of symmetry between the left and right halves of the thorax. UMLS:C1858033 Asymmetric chest human_phenotype HP:0001555 Asymmetry of the thorax HP:0001555 Lack of symmetry between the left and right halves of the thorax. https://orcid.org/0000-0002-0736-9199 Asymmetric chest true HP:0001556 An abnormality of fetal movement. HP:0007629 UMLS:C1849510 Abnormal intrauterine movements human_phenotype HP:0001557 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. Prenatal movement abnormality HP:0001557 An abnormality of fetal movement. https://orcid.org/0000-0002-0736-9199 An abnormal reduction in quantity or strength of fetal movements. HP:0001559 HP:0006840 HP:0007630 HP:0007631 SNOMEDCT_US:276369006 UMLS:C0235659 Decreased fetal activity Decreased fetal movements Decreased foetal activity Decreased foetal movement Decreased foetal movements Decreased movement in utero Dminished fetal movement Dminished foetal movement Fetal hypokinesia Foetal hypokinesia Less than 10 fetal movements in 12 hours Less than 10 foetal movements in 12 hours Reduced fetal movement Reduced fetal movements Reduced foetal movement Reduced foetal movements human_phenotype HP:0001558 Decreased fetal movement HP:0001558 An abnormal reduction in quantity or strength of fetal movements. https://orcid.org/0000-0002-0736-9199 Decreased foetal activity Decreased foetal movement Decreased foetal movements Dminished foetal movement Foetal hypokinesia Less than 10 fetal movements in 12 hours PMID:2729383 Less than 10 foetal movements in 12 hours Reduced foetal movement Reduced foetal movements true HP:0001559 Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. SNOMEDCT_US:42170009 UMLS:C0266781 Abnormal amniotic fluid human_phenotype HP:0001560 Abnormality of the amniotic fluid HP:0001560 Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. https://orcid.org/0000-0002-0736-9199 The presence of excess amniotic fluid in the uterus during pregnancy. HP:0005098 SNOMEDCT_US:86203003 UMLS:C0020224 High levels of amniotic fluid Hydramnios human_phenotype Increased amniotic fluid index HP:0001561 Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. Polyhydramnios HP:0001561 The presence of excess amniotic fluid in the uterus during pregnancy. https://orcid.org/0000-0002-0736-9199 High levels of amniotic fluid https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Diminished amniotic fluid volume in pregnancy. HP:0004638 SNOMEDCT_US:59566000 UMLS:C0079924 UMLS:C3550658 Low levels of amniotic fluid Maternal oligohydramnios human_phenotype Decreased amniotic fluid index HP:0001562 Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. Oligohydramnios HP:0001562 Diminished amniotic fluid volume in pregnancy. https://orcid.org/0000-0002-0736-9199 Low levels of amniotic fluid https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Abnormally increased production of urine by the fetus resulting in polyhydramnios. UMLS:C1865279 Foetal polyuria human_phenotype HP:0001563 The fetal urine production rate can be measured by ultrasonography. Fetal polyuria HP:0001563 Abnormally increased production of urine by the fetus resulting in polyhydramnios. PMID:21460147 https://orcid.org/0000-0002-0736-9199 Foetal polyuria true HP:0001564 true HP:0001565 Increased distance between the maxillary central permanent incisor tooth. HP:0000669 HP:0001570 HP:0006300 HP:0006324 Central incisor gap UMLS:C1835762 UMLS:C1845110 UMLS:C4280252 Diastasis of the central incisors Gap between upper front teeth Separated superior central incisors Wide gap between upper central incisors Wide upper central incisors Widely spaced upper incisors Diastema between maxillary central incisors Diastema between upper front teeth Diastema between upper incisors human_phenotype HP:0001566 Widely-spaced maxillary central incisors HP:0001566 Increased distance between the maxillary central permanent incisor tooth. https://orcid.org/0000-0002-9338-3017 Central incisor gap Gap between upper front teeth https://orcid.org/0000-0001-5889-4463 Wide gap between upper central incisors Widely spaced upper incisors Diastema between maxillary central incisors https://orcid.org/0000-0001-5889-4463 Diastema between upper front teeth https://orcid.org/0000-0001-5889-4463 Diastema between upper incisors https://orcid.org/0000-0001-5889-4463 true HP:0001567 true HP:0001568 true HP:0001569 true HP:0001570 The presence of multiple impacted teeth. Multiple buried teeth Multiple retained teeth UMLS:C1839965 UMLS:C4280593 Impacted teeth Multiple impacted teeth human_phenotype HP:0001571 Multiple impacted teeth HP:0001571 The presence of multiple impacted teeth. https://orcid.org/0000-0002-9338-3017 Multiple buried teeth https://orcid.org/0000-0001-5889-4463 Multiple retained teeth https://orcid.org/0000-0001-5889-4463 Impacted teeth Multiple impacted teeth Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. Hyperplasia of tooth Hypertrophy of tooth SNOMEDCT_US:71485000 UMLS:C0266036 UMLS:C4280590 UMLS:C4280591 UMLS:C4280592 Increased size of tooth Increased width of tooth Large tooth Megalodontia human_phenotype Tooth mass excess HP:0001572 The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. Macrodontia HP:0001572 Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. PMID:19125428 https://orcid.org/0000-0002-9338-3017 Hyperplasia of tooth https://orcid.org/0000-0001-5889-4463 Hypertrophy of tooth https://orcid.org/0000-0001-5889-4463 Increased size of tooth https://orcid.org/0000-0001-5889-4463 Increased width of tooth https://orcid.org/0000-0001-5889-4463 Large tooth Tooth mass excess https://orcid.org/0000-0001-5889-4463 true HP:0001573 An abnormality of the integument, which consists of the skin and the superficial fascia. UMLS:C4025761 human_phenotype HP:0001574 Abnormality of skin, hair, or nails. Abnormality of the integument HP:0001574 An abnormality of the integument, which consists of the skin and the superficial fascia. https://orcid.org/0000-0002-0736-9199 HP:0000712 human_phenotype HP:0001575 obsolete Mood changes true HP:0001575 true HP:0001576 true HP:0001577 true HP:0001578 Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. UMLS:C1968852 UMLS:C4025760 human_phenotype ACTH-independent hypercortisolemia HP:0001579 Primary hypercortisolism HP:0001579 Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. https://orcid.org/0000-0002-0736-9199 UMLS:C1968851 human_phenotype HP:0001580 Pigmented micronodular adrenocortical disease HP:0001580 Infections of the skin that happen multiple times. HP:0007563 UMLS:C1853193 Recurrent cutaneous infections Recurrent skin infections Skin infections, recurrent human_phenotype HP:0001581 Recurrent skin infections HP:0001581 Infections of the skin that happen multiple times. https://orcid.org/0000-0002-0736-9199 Recurrent skin infections Skin infections, recurrent https://orcid.org/0000-0002-5316-1399 Loose and sagging skin often associated with loss of skin elasticity. HP:0007391 SNOMEDCT_US:201093004 UMLS:C0581342 Loose redundant skin Redundant skin folds Sagging, redundant skin human_phenotype HP:0001582 Redundant skin HP:0001582 Loose and sagging skin often associated with loss of skin elasticity. https://orcid.org/0000-0002-0736-9199 Loose redundant skin Redundant skin folds Sagging, redundant skin A form of nystagmus in which the eyeball makes rotary motions around the axis. SNOMEDCT_US:44526006 SNOMEDCT_US:95783006 UMLS:C0240595 Rotatory Nystagmus human_phenotype HP:0001583 Rotary nystagmus HP:0001583 A form of nystagmus in which the eyeball makes rotary motions around the axis. https://orcid.org/0000-0002-0736-9199 true HP:0001584 true HP:0001585 The presence of a fistula connecting the urinary bladder to the vagina. SNOMEDCT_US:89405008 UMLS:C0042582 human_phenotype HP:0001586 Vesicovaginal fistula HP:0001586 The presence of a fistula connecting the urinary bladder to the vagina. https://orcid.org/0000-0002-0736-9199 HP:0008209 human_phenotype HP:0001587 obsolete Primary ovarian failure true HP:0001587 true HP:0001588 true HP:0001589 true HP:0001590 The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. HP:0006626 HP:0006664 UMLS:C1865186 Bell-shaped chest Constricted, bell-shaped thorax Narrow, bell-shaped thorax human_phenotype HP:0001591 A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. Bell-shaped thorax HP:0001591 The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. https://orcid.org/0000-0002-0736-9199 Agenesis specifically affecting one of the classes incisor, premolar, or molar. UMLS:C1970308 UMLS:C4280251 Agenesis of a tooth Failure of development of a tooth human_phenotype Absence of a tooth Missing a tooth HP:0001592 Selective tooth agenesis HP:0001592 Agenesis specifically affecting one of the classes incisor, premolar, or molar. https://orcid.org/0000-0002-9338-3017 Agenesis of a tooth https://orcid.org/0000-0001-5889-4463 Failure of development of a tooth https://orcid.org/0000-0001-5889-4463 Absence of a tooth https://orcid.org/0000-0001-5889-4463 Missing a tooth https://orcid.org/0000-0001-5889-4463 Decreased size of the maxillary permanent incisor. Decreased size of maxillary lateral incisor Decreased size of upper lateral incisor Hypotrophic maxillary lateral incisor Hypotrophic upper lateral incisor Small maxillary lateral incisor Small upper lateral incisor UMLS:C1845111 UMLS:C4280588 UMLS:C4280589 Decreased width of upper lateral incisor human_phenotype HP:0001593 Maxillary lateral incisor microdontia HP:0001593 Decreased size of the maxillary permanent incisor. https://orcid.org/0000-0002-9338-3017 Decreased size of maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Decreased size of upper lateral incisor https://orcid.org/0000-0001-5889-4463 Hypotrophic maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Hypotrophic upper lateral incisor https://orcid.org/0000-0001-5889-4463 Small maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Small upper lateral incisor https://orcid.org/0000-0001-5889-4463 Decreased width of upper lateral incisor https://orcid.org/0000-0001-5889-4463 true HP:0001594 An abnormality of the hair. UMLS:C0157733 UMLS:C2677869 Abnormality of the hair Hair abnormality Abnormality of the hair shaft human_phenotype HP:0001595 Abnormal hair morphology HP:0001595 An abnormality of the hair. https://orcid.org/0000-0002-0736-9199 Abnormality of the hair Hair abnormality Abnormality of the hair shaft https://orcid.org/0000-0001-5889-4463 A noncongenital process of hair loss, which may progress to partial or complete baldness. HP:0002238 HP:0008068 MEDDRA:10001760 SNOMEDCT_US:278040002 SNOMEDCT_US:56317004 UMLS:C0002170 Hair loss human_phenotype HP:0001596 Alopecia HP:0001596 A noncongenital process of hair loss, which may progress to partial or complete baldness. PMID:14676077 MEDDRA:10001760 Alopecia Hair loss Abnormal structure or appearance of the nail. SNOMEDCT_US:17790008 UMLS:C0027339 UMLS:C0853087 Abnormality of the nail human_phenotype Nail disease HP:0001597 Abnormality of the fingernails and/or toenails. Abnormal nail morphology HP:0001597 Abnormal structure or appearance of the nail. https://orcid.org/0000-0002-0736-9199 Abnormality of the nail Nail disease The natural longitudinal (posterodistal) convex arch is not present or is inverted. HP:0001815 SNOMEDCT_US:66270006 UMLS:C0221261 Koilonychia Spoon-shaped nails human_phenotype HP:0001598 Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Concave nail HP:0001598 The natural longitudinal (posterodistal) convex arch is not present or is inverted. PMID:19125433 Spoon-shaped nails true HP:0001599 An abnormality of the larynx. UMLS:C4021777 Laryngeal abnormalities Laryngeal anomalies human_phenotype HP:0001600 Abnormality of the larynx HP:0001600 An abnormality of the larynx. https://orcid.org/0000-0002-0736-9199 Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. SNOMEDCT_US:38086007 UMLS:C0264303 Softening of voice box tissue human_phenotype HP:0001601 Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. Laryngomalacia HP:0001601 Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. https://orcid.org/0000-0002-0736-9199 Softening of voice box tissue https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. SNOMEDCT_US:75547007 UMLS:C0023075 human_phenotype HP:0001602 Laryngeal stenosis HP:0001602 Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. https://orcid.org/0000-0002-0736-9199 true HP:0001603 Decreased strength of the vocal folds. HP:0001603 HP:0001616 HP:0008745 SNOMEDCT_US:302912005 SNOMEDCT_US:445424004 UMLS:C0751576 UMLS:C1832690 UMLS:C1843187 UMLS:C1853729 Hoarse voice due to vocal cord paresis Vocal cord paresis in severe cases Weakness of the vocal cords human_phenotype HP:0001604 Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. Vocal cord paresis HP:0001604 Decreased strength of the vocal folds. https://orcid.org/0000-0002-0736-9199 Weakness of the vocal cords A loss of the ability to move the vocal folds. HP:0001606 HP:0006847 SNOMEDCT_US:302912005 UMLS:C0042928 UMLS:C1854345 Inability to move vocal cords Laryngeal paralysis human_phenotype HP:0001605 Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. Vocal cord paralysis HP:0001605 A loss of the ability to move the vocal folds. https://orcid.org/0000-0002-0736-9199 Inability to move vocal cords https://orcid.org/0000-0001-5208-3432 HP:0001605 human_phenotype HP:0001606 obsolete Vocal cord paralysis (caused by tumor impingement) true HP:0001606 SNOMEDCT_US:22668006 UMLS:C0238441 human_phenotype HP:0001607 Subglottic stenosis HP:0001607 UMLS:C4021776 Abnormality of the voice Voice abnormality human_phenotype HP:0001608 This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. Abnormality of the voice HP:0001608 Abnormality of the voice Voice abnormality Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. HP:0001613 HP:0001619 SNOMEDCT_US:50219008 UMLS:C0019825 UMLS:C1854348 Hoarse voice Hoarseness Husky voice human_phenotype HP:0001609 Hoarse voice HP:0001609 Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. https://orcid.org/0000-0002-0736-9199 Hoarse voice Hoarseness Husky voice true HP:0001610 A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. HP:0001614 SNOMEDCT_US:229645001 SNOMEDCT_US:289190003 UMLS:C0454555 UMLS:C0566620 Hypernasal voice Nasal speech Nasal voice human_phenotype HP:0001611 May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy. Hypernasal speech HP:0001611 Hypernasal voice https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Nasal speech https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Nasal voice https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 SNOMEDCT_US:2120003 UMLS:C0234860 human_phenotype HP:0001612 Weak cry HP:0001612 HP:0001609 human_phenotype HP:0001613 obsolete Hoarse voice (caused by tumor impingement) true HP:0001613 true HP:0001614 UMLS:C2678303 Hoarse cry human_phenotype HP:0001615 Hoarse cry HP:0001615 Hoarse cry true HP:0001616 true HP:0001617 Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. SNOMEDCT_US:47004009 UMLS:C1527344 Inability to produce voice sounds Voice change human_phenotype HP:0001618 Dysphonia HP:0001618 Inability to produce voice sounds https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Voice change https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 true HP:0001619 A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. HP:0001610 HP:0008374 HP:0008377 HP:0008378 HP:0008379 HP:0009146 SNOMEDCT_US:51406002 UMLS:C0241703 High pitched voice High-pitched voice human_phenotype HP:0001620 Abnormally high-pitched voice HP:0001620 High pitched voice https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 High-pitched voice https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Reduced intensity (volume) of speech. SNOMEDCT_US:34527004 SNOMEDCT_US:8614008 UMLS:C0241700 UMLS:C0521007 Quiet voice Soft voice Weak voice human_phenotype Hypophonia HP:0001621 Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. Weak voice HP:0001621 Reduced intensity (volume) of speech. https://orcid.org/0000-0002-0736-9199 Soft voice Weak voice The birth of a baby of less than 37 weeks of gestational age. SNOMEDCT_US:282020008 SNOMEDCT_US:367494004 SNOMEDCT_US:49550006 UMLS:C0151526 UMLS:C0233315 Premature birth Premature delivery Premature delivery of affected infants Preterm birth Preterm delivery Shortened gestation time human_phenotype HP:0001622 Premature birth HP:0001622 The birth of a baby of less than 37 weeks of gestational age. https://orcid.org/0000-0002-0736-9199 Premature birth Premature delivery of affected infants Preterm delivery A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. SNOMEDCT_US:249101006 SNOMEDCT_US:6096002 UMLS:C0006157 Breech presentation at birth Feet or buttocks of fetus positioned near opening of uterus Feet or buttocks of foetus positioned near opening of uterus human_phenotype HP:0001623 Breech presentation HP:0001623 A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. https://orcid.org/0000-0002-0736-9199 Feet or buttocks of fetus positioned near opening of uterus https://orcid.org/0000-0002-6548-5200 Feet or buttocks of foetus positioned near opening of uterus true HP:0001624 true HP:0001625 Any abnormality of the cardiovascular system. HP:0003114 HP:0003116 SNOMEDCT_US:49601007 UMLS:C0007222 UMLS:C0243050 Abnormality of the cardiovascular system Cardiovascular abnormality human_phenotype Cardiovascular disease HP:0001626 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. Abnormality of the cardiovascular system HP:0001626 Any abnormality of the cardiovascular system. https://orcid.org/0000-0002-0736-9199 Abnormality of the cardiovascular system Cardiovascular abnormality Cardiovascular disease Any structural anomaly of the heart. HP:3000001 SNOMEDCT_US:13213009 UMLS:C0018798 UMLS:C0152021 Abnormality of cardiac morphology Abnormality of the heart Abnormally shaped heart Cardiac abnormality Cardiac anomalies Cardiac anomaly Congenital heart defect Congenital heart defects Heart defect human_phenotype HP:0001627 Abnormal heart morphology HP:0001627 Any structural anomaly of the heart. https://orcid.org/0000-0002-0736-9199 Abnormality of the heart Abnormally shaped heart https://orcid.org/0000-0001-5208-3432 Heart defect true HP:0001628 A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. HP:0001652 Fyler:1300 SNOMEDCT_US:253549006 SNOMEDCT_US:30288003 UMLS:C0018818 Hole in heart wall separating two lower heart chambers VSD Ventricular septal defects Ventriculoseptal defect human_phenotype HP:0001629 Ventricular septal defect HP:0001629 A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. PMID:33327983 https://orcid.org/0000-0002-0736-9199 Hole in heart wall separating two lower heart chambers https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 VSD true HP:0001630 Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. HP:0001630 Fyler:2050 ICD-10:Q21.1 SNOMEDCT_US:253366007 SNOMEDCT_US:405752007 SNOMEDCT_US:70142008 UMLS:C0018817 ASD An opening in the wall separating the top two chambers of the heart Atria septal defect Atrial septum defect Atrioseptal defect Defect in the atrial septum Hole in heart wall separating two upper heart chambers human_phenotype HP:0001631 Atrial septal defect HP:0001631 Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 ASD https://orcid.org/0000-0002-5316-1399 An opening in the wall separating the top two chambers of the heart https://orcid.org/0000-0002-6548-5200 Hole in heart wall separating two upper heart chambers https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0001632 Any structural anomaly of the mitral valve. HP:0031477 UMLS:C4025759 Abnormality of the mitral valve human_phenotype HP:0001633 Abnormal mitral valve morphology HP:0001633 Any structural anomaly of the mitral valve. https://orcid.org/0000-0002-0736-9199 One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Fyler:1533 SNOMEDCT_US:409712001 SNOMEDCT_US:8074002 UMLS:C0026267 human_phenotype HP:0001634 Mitral valve prolapse can be associated with mitral regurgitation. Mitral valve prolapse HP:0001634 One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. https://orcid.org/0000-0002-0736-9199 The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. HP:0006686 SNOMEDCT_US:42343007 SNOMEDCT_US:84114007 UMLS:C0018801 UMLS:C0018802 CHF Cardiac failure Cardiac failures Cardiac insufficiency Chronic heart failure Heart failure human_phenotype HP:0001635 Congestive heart failure HP:0001635 The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. https://orcid.org/0000-0002-0736-9199 CHF Cardiac failure Cardiac failures https://orcid.org/0000-0002-5316-1399 Heart failure A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. ICD-10:Q21.3 SNOMEDCT_US:86299006 UMLS:C0039685 Tetrology of fallot human_phenotype HP:0001636 Tetralogy of Fallot HP:0001636 A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the muscle layer of the heart wall. UMLS:C4025758 Abnormality of the myocardium human_phenotype HP:0001637 Abnormal myocardium morphology HP:0001637 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Fyler:1840 SNOMEDCT_US:57809008 SNOMEDCT_US:85898001 UMLS:C0878544 Disease of the heart muscle human_phenotype HP:0001638 Cardiomyopathy HP:0001638 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. PMID:17916581 https://orcid.org/0000-0002-0736-9199 Disease of the heart muscle https://orcid.org/0000-0002-6548-5200 Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. SNOMEDCT_US:233873004 SNOMEDCT_US:45227007 UMLS:C0007194 Cardiomyopathy, hypertrophic Enlarged and thickened heart muscle HCM human_phenotype HP:0001639 Hypertrophic cardiomyopathy HP:0001639 Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. PMID:17916581 Enlarged and thickened heart muscle https://orcid.org/0000-0002-6548-5200 HCM Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. SNOMEDCT_US:8186001 UMLS:C0018800 Enlarged heart Increased heart size human_phenotype HP:0001640 Cardiomegaly HP:0001640 Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. PMID:31194436 https://orcid.org/0000-0002-0736-9199 Enlarged heart Increased heart size https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the pulmonary valve. Fyler:1600 Fyler:1602 SNOMEDCT_US:448643005 UMLS:C3164374 Abnormality of the pulmonary valve Anomaly of the pulmonary valve human_phenotype HP:0001641 Abnormal pulmonary valve morphology HP:0001641 Any structural abnormality of the pulmonary valve. https://orcid.org/0000-0002-0736-9199 A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Fyler:1611 SNOMEDCT_US:56786000 UMLS:C1956257 Narrowing of pulmonic valve Pulmonary stenosis Pulmonary valve stenosis Pulmonic valve stenosis human_phenotype HP:0001642 Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. Pulmonic stenosis HP:0001642 A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). https://orcid.org/0000-0002-0736-9199 Narrowing of pulmonic valve https://orcid.org/0000-0001-5208-3432 In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Fyler:2100 SNOMEDCT_US:83330001 UMLS:C0013274 Ductus arteriosus PDA Patent ductus Botalli Persistent arterial duct Persistent ductus arteriosus human_phenotype HP:0001643 Patent ductus arteriosus HP:0001643 In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. PMID:20421261 https://orcid.org/0000-0002-0736-9199 PDA Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. HP:0001725 HP:0005159 HP:0200130 Fyler:1843 SNOMEDCT_US:195021004 SNOMEDCT_US:399020009 UMLS:C0007193 Cardiomyopathy, dilated Congestive cardiomyopathy DCM Stretched and thinned heart muscle human_phenotype HP:0001644 Dilated cardiomyopathy HP:0001644 Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. PMID:17916581 DCM Stretched and thinned heart muscle https://orcid.org/0000-0002-6548-5200 The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). HP:0005161 SNOMEDCT_US:95281009 UMLS:C0085298 Premature sudden cardiac death Sudden cardiac death human_phenotype HP:0001645 Sudden cardiac death HP:0001645 The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). https://orcid.org/0000-0002-0736-9199 Premature sudden cardiac death Sudden cardiac death Any abnormality of the aortic valve. Fyler:1400 Fyler:1408 SNOMEDCT_US:448743001 UMLS:C3164445 Abnormality of the aortic valve human_phenotype HP:0001646 Abnormal aortic valve morphology HP:0001646 Any abnormality of the aortic valve. https://orcid.org/0000-0002-0736-9199 The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). SNOMEDCT_US:72352009 UMLS:C0149630 Aortic valve has two leaflets rather than three human_phenotype HP:0001647 A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036]. Bicuspid aortic valve HP:0001647 The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). PMID:17467434 PMID:24827036 https://orcid.org/0000-0002-0736-9199 Aortic valve has two leaflets rather than three https://orcid.org/0000-0002-6548-5200 Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. SNOMEDCT_US:274096000 SNOMEDCT_US:83291003 UMLS:C0034072 human_phenotype HP:0001648 Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. Cor pulmonale HP:0001648 Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. https://orcid.org/0000-0002-0736-9199 A rapid heartrate that exceeds the range of the normal resting heartrate for age. HP:0001673 HP:0001720 SNOMEDCT_US:3424008 SNOMEDCT_US:86651002 UMLS:C0039231 UMLS:C4020868 Fast heart rate Heart racing Racing heart human_phenotype Elevated heart rate Increased heart rate Rapid heart beat HP:0001649 Tachycardia HP:0001649 A rapid heartrate that exceeds the range of the normal resting heartrate for age. https://orcid.org/0000-0002-0736-9199 Fast heart rate Heart racing Racing heart Elevated heart rate Increased heart rate Rapid heart beat The presence of a stenosis (narrowing) of the aortic valve. HP:0005140 Fyler:1411 SNOMEDCT_US:60573004 UMLS:C0003507 Aortic stenosis Narrowing of aortic valve Valvular aortic stenosis human_phenotype HP:0001650 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. Aortic valve stenosis HP:0001650 The presence of a stenosis (narrowing) of the aortic valve. https://orcid.org/0000-0002-0736-9199 Narrowing of aortic valve https://orcid.org/0000-0001-5208-3432 The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. EPCC:02.01.02 Fyler:0110 Fyler:110 ICD-10:Q24.0 SNOMEDCT_US:27637000 UMLS:C0011813 Heart tip and four chambers point towards right side of body Thoracic situs inversus human_phenotype HP:0001651 Dextrocardia HP:0001651 The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0009-0006-4530-3154 Heart tip and four chambers point towards right side of body https://orcid.org/0000-0002-6548-5200 true HP:0001652 An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Fyler:1151 SNOMEDCT_US:48724000 UMLS:C0026266 UMLS:C3551535 Mitral incompetence Mitral insufficiency Mitral valve insufficiency Mitral valve regurgitation human_phenotype Mitral regurgitation, mild HP:0001653 Mitral regurgitation HP:0001653 An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of a cardiac valve. HP:0001703 SNOMEDCT_US:368009 UMLS:C0018824 UMLS:C0241654 Abnormality of the heart valves Valvular abnormality human_phenotype Valvular heart disease HP:0001654 Abnormal heart valve morphology HP:0001654 Any structural abnormality of a cardiac valve. https://orcid.org/0000-0002-0736-9199 Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Fyler:2020 ICD-10:Q21.1 SNOMEDCT_US:204317008 UMLS:C0016522 PFO Persistent foramen ovale human_phenotype HP:0001655 The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. Patent foramen ovale HP:0001655 Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 PFO true HP:0001656 Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). SNOMEDCT_US:111975006 UMLS:C0151878 Long QT syndrome Prolong qt interval on ekg human_phenotype Long Q-T syndrome HP:0001657 The QT interval represents electrical depolarization and repolarization of the left and right ventricles. Prolonged QT interval HP:0001657 Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). https://orcid.org/0000-0002-0736-9199 Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. SNOMEDCT_US:22298006 UMLS:C0027051 Heart attack MI human_phenotype HP:0001658 Myocardial infarction HP:0001658 Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. https://orcid.org/0000-0002-0736-9199 Heart attack https://orcid.org/0000-0001-5208-3432 MI An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. SNOMEDCT_US:60234000 UMLS:C0003504 Aortic insufficiency Aortic valve regurgitation human_phenotype HP:0001659 Aortic regurgitation HP:0001659 An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. https://orcid.org/0000-0002-0736-9199 A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Fyler:0500 Fyler:500 ICD-10:Q20.0 SNOMEDCT_US:58140002 UMLS:C0041206 UMLS:C4020867 Common arterial trunk human_phenotype Persistent truncus arteriosus HP:0001660 Truncus arteriosus HP:0001660 A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 true HP:0001661 A slower than normal heart rate (in adults, slower than 60 beats per minute). SNOMEDCT_US:48867003 UMLS:C0428977 Brachycardia Slow heartbeats human_phenotype HP:0001662 Bradycardia HP:0001662 A slower than normal heart rate (in adults, slower than 60 beats per minute). https://orcid.org/0000-0002-0736-9199 Slow heartbeats Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. HP:0005166 SNOMEDCT_US:71908006 UMLS:C0042510 human_phenotype HP:0001663 Ventricular fibrillation HP:0001663 Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. https://orcid.org/0000-0002-0736-9199 A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. SNOMEDCT_US:31722008 UMLS:C0040479 Torsades de pointes human_phenotype HP:0001664 Torsade de pointes HP:0001664 A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. https://orcid.org/0000-0002-0736-9199 true HP:0001665 true HP:0001666 In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Fyler:3609 SNOMEDCT_US:89792004 UMLS:C0162770 Heart right ventricle hypertrophy human_phenotype HP:0001667 Right ventricular hypertrophy HP:0001667 In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. https://orcid.org/0000-0002-0736-9199 Heart right ventricle hypertrophy https://orcid.org/0000-0001-5208-3432 true HP:0001668 A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. SNOMEDCT_US:204296002 SNOMEDCT_US:26146002 UMLS:C3536741 TGA TGV Transposition of great vessels human_phenotype HP:0001669 Transposition of the great arteries HP:0001669 A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. PMID:10798431 eMedicine:900574 https://orcid.org/0000-0002-0736-9199 TGA TGV Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. UMLS:C0205700 human_phenotype HP:0001670 Asymmetric septal hypertrophy HP:0001670 Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. PMID:17916581 https://orcid.org/0000-0002-0736-9199 An anomaly of the intra-atrial or intraventricular septum. HP:0001690 HP:0004760 SNOMEDCT_US:253273004 SNOMEDCT_US:396351009 SNOMEDCT_US:59494005 UMLS:C0018816 Abnormality of the cardiac septa Heart septal defect Septal defects human_phenotype HP:0001671 Abnormal cardiac septum morphology HP:0001671 An anomaly of the intra-atrial or intraventricular septum. https://orcid.org/0000-0002-0736-9199 Septal defects true HP:0001672 HP:0001649 human_phenotype HP:0001673 obsolete Tachycardia (with pheochromocytoma) true HP:0001673 A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. HP:0001689 HP:0006697 Fyler:1120 Common atrioventricular canal Complete atrioventricular canal Complete atrioventricular septal defect Complete common AV canal human_phenotype HP:0001674 The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. Complete atrioventricular canal defect HP:0001674 A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. HPO_CONTRIBUTOR:DDD_dbrown PMID:16722604 https://orcid.org/0000-0002-0736-9199 HP:0011675 human_phenotype HP:0001675 obsolete Rhythm disturbances associated with pheochromocytoma true HP:0001675 HP:0001962 human_phenotype HP:0001676 obsolete Palpitations (with pheochromocytoma) true HP:0001676 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. HP:0004929 HP:0005138 SNOMEDCT_US:414024009 SNOMEDCT_US:53741008 UMLS:C1956346 Coronary atherosclerosis Coronary disease Plaque build-up in arteries supplying blood to heart human_phenotype HP:0001677 Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction. Coronary artery atherosclerosis HP:0001677 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. PMID:31420554 https://orcid.org/0000-0002-0736-9199 Plaque build-up in arteries supplying blood to heart https://orcid.org/0000-0001-5208-3432 Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. HP:0001668 HP:0005142 HP:0006672 SNOMEDCT_US:233917008 UMLS:C0004245 UMLS:C1841659 Interruption of electrical communication between upper and lower chambers of heart human_phenotype Atrioventricular nodal disease HP:0001678 Atrioventricular block HP:0001678 Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. https://orcid.org/0000-0002-0736-9199 Interruption of electrical communication between upper and lower chambers of heart https://orcid.org/0000-0002-6548-5200 An abnormality of the aorta. HP:0030963 Fyler:1453 UMLS:C4025756 Abnormal aorta morphology Abnormality of the aorta human_phenotype HP:0001679 Abnormal aortic morphology HP:0001679 An abnormality of the aorta. PMID:24910511 https://orcid.org/0000-0002-0736-9199 Abnormal aorta morphology https://orcid.org/0000-0001-5208-3432 Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. SNOMEDCT_US:7305005 UMLS:C0003492 Aortic coarctation Coarctation of the aorta Narrowing of aorta Narrowing of the aorta human_phenotype HP:0001680 Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient. Coarctation of aorta HP:0001680 Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. PMID:23909637 https://orcid.org/0000-0002-0736-9199 Narrowing of aorta https://orcid.org/0000-0002-6548-5200 Narrowing of the aorta https://orcid.org/0000-0002-6548-5200 Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. SNOMEDCT_US:194828000 SNOMEDCT_US:225566008 UMLS:C0002962 human_phenotype HP:0001681 Angina pectoris HP:0001681 Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. https://orcid.org/0000-0002-0736-9199 A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. SNOMEDCT_US:204368006 UMLS:C0340375 Narrowing of blood vessel below aortic heart valve Subaortic stenosis human_phenotype HP:0001682 Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. Subvalvular aortic stenosis HP:0001682 A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. https://orcid.org/0000-0002-0736-9199 Narrowing of blood vessel below aortic heart valve https://orcid.org/0000-0002-6548-5200 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. Fyler:0170 Fyler:170 SNOMEDCT_US:78250005 UMLS:C0013580 human_phenotype HP:0001683 See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). Ectopia cordis HP:0001683 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall. HPO_CONTRIBUTOR:DDD_dbrown A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. HP:0200131 Fyler:2000 ICD-10:Q21.1 SNOMEDCT_US:204315000 UMLS:C0344724 Atrial septal defect, ostium secundum type Ostium secundum atrial septal defect Patent ostium secundum human_phenotype HP:0001684 Secundum atrial septal defect HP:0001684 A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Atrial septal defect, ostium secundum type https://orcid.org/0000-0002-5316-1399 Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. UMLS:C0151654 human_phenotype HP:0001685 Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure. Myocardial fibrosis HP:0001685 Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. PMID:28157267 SNOMEDCT_US:441913003 SNOMEDCT_US:44564008 UMLS:C0003564 Aphonia human_phenotype HP:0001686 Loss of voice HP:0001686 Aphonia https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 true HP:0001687 Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. HP:0005137 Fyler:7013 SNOMEDCT_US:49710005 UMLS:C0085610 human_phenotype HP:0001688 Sinus bradycardia HP:0001688 Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. https://orcid.org/0000-0002-0736-9199 true HP:0001689 true HP:0001690 A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. UMLS:C3887554 Muscular subaortic stenosis human_phenotype HP:0001691 Muscular subvalvular aortic stenosis HP:0001691 A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract. https://orcid.org/0000-0002-0736-9199 A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. SNOMEDCT_US:17366009 UMLS:C0085611 UMLS:C4025755 human_phenotype Primary atrial arrhythmia HP:0001692 Atrial arrhythmia HP:0001692 A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. HPO_CONTRIBUTOR:DDD_dbrown Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. SNOMEDCT_US:442119001 UMLS:C0232180 human_phenotype HP:0001693 Cardiac shunt HP:0001693 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system. https://orcid.org/0000-0002-0736-9199 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. SNOMEDCT_US:79692001 UMLS:C0428871 human_phenotype HP:0001694 Right-to-left shunt HP:0001694 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. https://orcid.org/0000-0001-9114-8737 An abrupt loss of heart function. SNOMEDCT_US:397829000 SNOMEDCT_US:410429000 UMLS:C0018790 Heart stops beating human_phenotype HP:0001695 Cardiac arrest HP:0001695 Heart stops beating https://orcid.org/0000-0002-6548-5200 A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Fyler:0100 Fyler:100 SNOMEDCT_US:14821001 SNOMEDCT_US:24614000 SNOMEDCT_US:27317008 SNOMEDCT_US:43876007 UMLS:C0037221 UMLS:C0266642 All organs on wrong side of body situs oppositus situs transversus human_phenotype Situs inversus HP:0001696 Situs inversus totalis HP:0001696 A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 All organs on wrong side of body https://orcid.org/0000-0002-6548-5200 An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. Fyler:1900 UMLS:C4025754 Abnormality of the pericardium human_phenotype HP:0001697 Abnormal pericardium morphology HP:0001697 An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Accumulation of fluid within the pericardium. Fyler:1940 SNOMEDCT_US:373945007 UMLS:C0031039 Fluid around heart Pericardial effusions human_phenotype HP:0001698 Pericardial effusion HP:0001698 Accumulation of fluid within the pericardium. https://orcid.org/0000-0002-0736-9199 Fluid around heart https://orcid.org/0000-0002-6548-5200 Rapid and unexpected death. SNOMEDCT_US:26636000 UMLS:C0011071 human_phenotype HP:0001699 Sudden death HP:0001699 Rapid and unexpected death. https://orcid.org/0000-0002-0736-9199 Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). SNOMEDCT_US:251061000 UMLS:C1442837 human_phenotype HP:0001700 Myocardial necrosis HP:0001700 Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). PMID:20405318 Inflammation of the sac-like covering around the heart (pericardium). SNOMEDCT_US:3238004 UMLS:C0031046 Swelling or irritation of membrane around heart human_phenotype HP:0001701 Pericarditis HP:0001701 Inflammation of the sac-like covering around the heart (pericardium). https://orcid.org/0000-0002-0736-9199 Swelling or irritation of membrane around heart https://orcid.org/0000-0002-6548-5200 Any structural anomaly of the tricuspid valve. HP:0031440 EPCC:06.01.00 UMLS:C4025753 Abnormality of the tricuspid valve human_phenotype HP:0001702 Abnormal tricuspid valve morphology HP:0001702 Any structural anomaly of the tricuspid valve. https://orcid.org/0000-0002-0736-9199 true HP:0001703 One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Fyler:1733 SNOMEDCT_US:253383003 UMLS:C0040962 human_phenotype HP:0001704 Tricuspid valve prolapse HP:0001704 One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. https://orcid.org/0000-0002-0736-9199 An obstruction to the forward flow of blood in the outflow tract of the right ventricle. UMLS:C0035619 Right ventricular outlet obstruction human_phenotype HP:0001705 Right ventricular outlet tract obstruction HP:0001705 An obstruction to the forward flow of blood in the outflow tract of the right ventricle. PMID:30038501 Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction SNOMEDCT_US:65457005 UMLS:C0014117 human_phenotype HP:0001706 Endocardial fibroelastosis HP:0001706 Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction PMID:23109776 An abnormality of the right ventricle of the heart. Fyler:1820 SNOMEDCT_US:253516002 UMLS:C0344887 Abnormality of the right ventricle Right ventricular abnormality human_phenotype HP:0001707 The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. Abnormal right ventricle morphology HP:0001707 An abnormality of the right ventricle of the heart. https://orcid.org/0000-0002-0736-9199 Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. SNOMEDCT_US:128404006 SNOMEDCT_US:367363000 UMLS:C0235527 UMLS:C2939447 Impaired right ventricular function Right ventricular impairment Right-sided heart failure human_phenotype HP:0001708 Right ventricular failure HP:0001708 Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. https://orcid.org/0000-0002-0736-9199 Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. SNOMEDCT_US:27885002 UMLS:C0151517 Complete heart block human_phenotype Third-degree heart block HP:0001709 Third degree atrioventricular block HP:0001709 Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. PMID:21841933 Complete heart block A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. UMLS:C1853238 Conotruncal heart defects human_phenotype HP:0001710 Conotruncal defect HP:0001710 A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the left ventricle of the heart. Fyler:1810 SNOMEDCT_US:253535002 UMLS:C0344905 Abnormal heart left ventricle morphology Abnormality of the left ventricle Left ventricular abnormality human_phenotype HP:0001711 Abnormal left ventricle morphology HP:0001711 Any structural abnormality of the left ventricle of the heart. https://orcid.org/0000-0002-0736-9199 Abnormal heart left ventricle morphology https://orcid.org/0000-0001-5208-3432 Enlargement or increased size of the heart left ventricle. HP:0005171 Fyler:3608 SNOMEDCT_US:55827005 UMLS:C0149721 Heart left ventricle hypertrophy Left ventricular wall hypertrophy human_phenotype HP:0001712 Left ventricular hypertrophy HP:0001712 Enlargement or increased size of the heart left ventricle. MP:0002625 Heart left ventricle hypertrophy https://orcid.org/0000-0001-5208-3432 An abnormality of a cardiac ventricle. UMLS:C4025752 Abnormality of cardiac ventricle human_phenotype HP:0001713 Abnormal cardiac ventricle morphology HP:0001713 An abnormality of a cardiac ventricle. https://orcid.org/0000-0002-0736-9199 Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. HP:0005167 SNOMEDCT_US:266249003 UMLS:C0340279 human_phenotype HP:0001714 Ventricular hypertrophy HP:0001714 Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. https://orcid.org/0000-0002-0736-9199 true HP:0001715 A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. SNOMEDCT_US:74390002 UMLS:C0043202 human_phenotype HP:0001716 Wolff-Parkinson-White syndrome HP:0001716 A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. https://orcid.org/0000-0002-0736-9199 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. SNOMEDCT_US:445512009 UMLS:C1611184 human_phenotype HP:0001717 Coronary artery calcification HP:0001717 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. https://orcid.org/0000-0002-0736-9199 An abnormal narrowing of the orifice of the mitral valve. HP:0005163 EPCC:06.02.92 Fyler:1511 ICD-10:Q23.2 SNOMEDCT_US:79619009 UMLS:C0026269 Mitral valve stenosis human_phenotype HP:0001718 Mitral stenosis HP:0001718 An abnormal narrowing of the orifice of the mitral valve. HPO_CONTRIBUTOR:DDD_dbrown Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Fyler:600 Fyler:606 SNOMEDCT_US:7484005 UMLS:C0013069 DORV Double-outlet right ventricle human_phenotype HP:0001719 During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodeling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodeling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. Double outlet right ventricle HP:0001719 Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. PMID:10798433 https://orcid.org/0000-0002-0736-9199 DORV true HP:0001720 true HP:0001721 A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. UMLS:C0742747 human_phenotype HP:0001722 High-output congestive heart failure HP:0001722 A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. https://orcid.org/0000-0002-0736-9199 Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. HP:0005130 SNOMEDCT_US:415295002 SNOMEDCT_US:90828009 UMLS:C0007196 human_phenotype HP:0001723 Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. Restrictive cardiomyopathy HP:0001723 Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. PMID:17916581 https://orcid.org/0000-0002-0736-9199 HP:0004942 human_phenotype HP:0001724 obsolete Aortic dilatation true HP:0001724 true HP:0001725 HP:0001654 human_phenotype HP:0001726 obsolete Increased prevalence of valvular disease true HP:0001726 A cerebrovascular accident (stroke) that occurs because of thromboembolism. UMLS:C1112433 human_phenotype HP:0001727 Thromboembolic stroke HP:0001727 A cerebrovascular accident (stroke) that occurs because of thromboembolism. https://orcid.org/0000-0002-0736-9199 true HP:0001728 true HP:0001729 A progressive form of hearing impairment. HP:0008590 UMLS:C1842138 Progressive hearing loss human_phenotype HP:0001730 Progressive hearing impairment HP:0001730 A progressive form of hearing impairment. https://orcid.org/0000-0002-0736-9199 true HP:0001731 An abnormality of the pancreas. SNOMEDCT_US:3855007 UMLS:C0030286 UMLS:C4025751 Abnormality of the pancreas human_phenotype Pancreatic disease HP:0001732 Abnormality of the pancreas HP:0001732 An abnormality of the pancreas. https://orcid.org/0000-0002-0736-9199 Abnormality of the pancreas Pancreatic disease The presence of inflammation in the pancreas. SNOMEDCT_US:75694006 UMLS:C0030305 Pancreatic inflammation human_phenotype HP:0001733 Pancreatitis HP:0001733 The presence of inflammation in the pancreas. https://orcid.org/0000-0002-0736-9199 Pancreatic inflammation https://orcid.org/0000-0001-5208-3432 A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. SNOMEDCT_US:40315008 UMLS:C0149955 human_phenotype HP:0001734 Annular pancreas HP:0001734 A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. https://orcid.org/0000-0002-0736-9199 A acute form of pancreatitis. HP:0004512 SNOMEDCT_US:197456007 UMLS:C0001339 Acute pancreatic inflammation Pancreatitis, acute human_phenotype HP:0001735 Acute pancreatitis HP:0001735 A acute form of pancreatitis. https://orcid.org/0000-0002-0736-9199 Acute pancreatic inflammation https://orcid.org/0000-0001-5208-3432 true HP:0001736 A cyst of the pancreas that possess a lining of mucous epithelium. SNOMEDCT_US:31258000 UMLS:C0030283 UMLS:C1860394 Pancreatic cysts human_phenotype Multiple pancreatic cysts Pancreatic cyst HP:0001737 Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. Pancreatic cysts HP:0001737 A cyst of the pancreas that possess a lining of mucous epithelium. https://orcid.org/0000-0002-0736-9199 Pancreatic cysts Multiple pancreatic cysts Pancreatic cyst Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. HP:0002581 HP:0004508 HP:0004509 SNOMEDCT_US:37992001 SNOMEDCT_US:47367009 UMLS:C0030293 UMLS:C0267963 Inability to properly digest food due to lack of pancreatic digestive enzymes human_phenotype Pancreatic insufficiency HP:0001738 Exocrine pancreatic insufficiency HP:0001738 Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. https://orcid.org/0000-0002-0736-9199 Inability to properly digest food due to lack of pancreatic digestive enzymes https://orcid.org/0000-0002-6548-5200 A structural anomaly of the nasopharynx. UMLS:C4025750 Abnormality of the nasopharynx human_phenotype HP:0001739 The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. Abnormal nasopharynx morphology HP:0001739 true HP:0001740 The male foreskin cannot be fully retracted from the head of the penis. SNOMEDCT_US:253854008 UMLS:C0345326 human_phenotype HP:0001741 Phimosis HP:0001741 The male foreskin cannot be fully retracted from the head of the penis. https://orcid.org/0009-0006-4530-3154 Reduced ability to pass air through the nasal cavity often leading to mouth breathing. SNOMEDCT_US:232209000 SNOMEDCT_US:267100006 SNOMEDCT_US:68235000 UMLS:C0027424 UMLS:C0027429 Blockage of nose Nasal blockage Nasal obstruction Obstruction of nose Stuffy nose Congestion of nose human_phenotype HP:0001742 Nasal congestion HP:0001742 Reduced ability to pass air through the nasal cavity often leading to mouth breathing. https://orcid.org/0000-0002-0736-9199 Blockage of nose https://orcid.org/0000-0001-5889-4463 Nasal blockage https://orcid.org/0000-0001-5889-4463 Nasal obstruction Obstruction of nose https://orcid.org/0000-0001-5889-4463 Stuffy nose http://www.entnet.org/content/stuffy-nose Congestion of nose https://orcid.org/0000-0001-5889-4463 An abnormality of the spleen. UMLS:C4025749 Abnormality of the spleen human_phenotype HP:0001743 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. Abnormality of the spleen HP:0001743 An abnormality of the spleen. https://orcid.org/0000-0002-0736-9199 Abnormality of the spleen Abnormal increased size of the spleen. HP:0001745 HP:0006269 SNOMEDCT_US:16294009 UMLS:C0038002 Increased spleen size Large spleen human_phenotype HP:0001744 Splenomegaly HP:0001744 Abnormal increased size of the spleen. https://orcid.org/0000-0002-0736-9199 Increased spleen size https://orcid.org/0000-0001-5208-3432 Large spleen true HP:0001745 Absence (aplasia) of the spleen. Fyler:4771 SNOMEDCT_US:702624008 SNOMEDCT_US:707147002 SNOMEDCT_US:93030006 UMLS:C0600031 Absent spleen human_phenotype HP:0001746 Asplenia HP:0001746 Absence (aplasia) of the spleen. https://orcid.org/0000-0002-0736-9199 Absent spleen https://orcid.org/0000-0001-5208-3432 An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Fyler:4772 SNOMEDCT_US:10362008 UMLS:C0266631 human_phenotype HP:0001747 Accessory spleen HP:0001747 An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. https://orcid.org/0000-0002-0736-9199 Polysplenia is a congenital disease manifested by multiple small accessory spleens. HP:0001749 HP:0006271 HP:0006272 UMLS:C1856659 Accessory spleens Multiple accessory spleens Multiple small spleens human_phenotype HP:0001748 Polysplenia HP:0001748 Polysplenia is a congenital disease manifested by multiple small accessory spleens. https://orcid.org/0000-0002-0736-9199 Multiple small spleens https://orcid.org/0000-0002-6548-5200 true HP:0001749 The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. Fyler:0200 Fyler:200 SNOMEDCT_US:45503006 UMLS:C0152424 Common ventricle human_phenotype HP:0001750 Single ventricle HP:0001750 The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. MP:0010432 Common ventricle https://orcid.org/0000-0001-5208-3432 An abnormality of the functioning of the vestibular apparatus. HP:0006917 HP:0007921 UMLS:C1843865 Impaired vestibular function Interictal vestibular dysfunction Vestibular function defect human_phenotype HP:0001751 The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. Abnormal vestibular function HP:0001751 An abnormality of the functioning of the vestibular apparatus. https://orcid.org/0000-0002-0736-9199 true HP:0001752 true HP:0001753 true HP:0001754 true HP:0001755 A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance UMLS:C1848606 Vestibular deficiency Vestibular dysfunction Vestibular failure Vestibular hypofunction Vestibular hyporeflexia Vestibular loss Vestibulopathy human_phenotype HP:0001756 Vestibular hyporeflexia HP:0001756 A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance PMID:32767115 https://orcid.org/0000-0002-0736-9199 A form of sensorineural hearing impairment that affects primarily the higher frequencies. UMLS:C4021775 High frequency sensorineural hearing impairment High-tone sensorineural deafness High-tone sensorineural hearing impairment human_phenotype HP:0001757 High-frequency sensorineural hearing impairment HP:0001757 A form of sensorineural hearing impairment that affects primarily the higher frequencies. https://orcid.org/0000-0002-0736-9199 true HP:0001758 true HP:0001759 An abnormality of the skeleton of foot. HP:0010216 HP:0010611 SNOMEDCT_US:229844004 UMLS:C0016506 Abnormal feet structure Abnormality of the feet Abnormality of the foot Foot deformities Foot deformity human_phenotype HP:0001760 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. Abnormal foot morphology HP:0001760 An abnormality of the skeleton of foot. https://orcid.org/0000-0002-0736-9199 Abnormal feet structure Abnormality of the feet Abnormality of the foot Foot deformities Foot deformity An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). HP:0008075 MEDDRA:10034743 SNOMEDCT_US:205091006 UMLS:C0728829 Cavus foot High-arched foot human_phenotype HP:0001761 Pes cavus HP:0001761 An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). PMID:19125433 https://orcid.org/0000-0002-0736-9199 MEDDRA:10034743 Pes cavus High-arched foot https://orcid.org/0000-0002-6548-5200 Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Fyler:4171 MEDDRA:10043106 SNOMEDCT_US:249808002 SNOMEDCT_US:397932003 UMLS:C0009081 Club feet Club foot Clubbing of feet Clubfeet Clubfoot Equinovarus Foot, talipes equinovarus Pes equinovarus Pes equinus Fetal foot inversion Foetal foot inversion human_phenotype HP:0001762 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. Fetal foot inversion refers to malposition of the foot originating during development involving inversion at the region of the metacarpals or more usually the subtalar joint and represents the prenatal sonographic equivalent of talipes equinovarus. Talipes equinovarus HP:0001762 Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. PMID:32491773 https://orcid.org/0000-0002-0736-9199 MEDDRA:10043106 Talipes equinovarus, congenital Club feet Club foot Clubfeet Clubfoot Foetal foot inversion A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. SNOMEDCT_US:203534009 SNOMEDCT_US:53226007 UMLS:C0016202 UMLS:C0264133 Flat feet Flat foot human_phenotype Dropped arches Fallen arches HP:0001763 Pes planus HP:0001763 A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Flat feet Flat foot Dropped arches Fallen arches true HP:0001764 Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. SNOMEDCT_US:122481008 UMLS:C1136179 Hammer toe Hammertoe Hammertoes human_phenotype HP:0001765 Hammertoe HP:0001765 Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. PMID:19125433 Hammer toe Hammertoe Hammertoes true HP:0001766 true HP:0001767 true HP:0001768 A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. UMLS:C1866241 Broad feet Broad foot Wide foot human_phenotype HP:0001769 Broad foot HP:0001769 A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. PMID:19125433 Broad feet Broad foot Wide foot https://orcid.org/0000-0001-5208-3432 Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". HP:0001828 HP:0005677 SNOMEDCT_US:32113001 UMLS:C0265660 Foot syndactyly Fused toes Syndactyly of feet Syndactyly of toes Webbed toes human_phenotype HP:0001770 Toe syndactyly HP:0001770 Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". https://orcid.org/0000-0002-0736-9199 Foot syndactyly https://orcid.org/0000-0001-5208-3432 Fused toes https://orcid.org/0000-0001-5208-3432 Webbed toes https://orcid.org/0000-0001-5208-3432 A contracture of the Achilles tendon. HP:0004711 HP:0005031 HP:0006430 SNOMEDCT_US:203076007 UMLS:C0410264 Achilles tendon contractures Contractures of the Achilles tendon Shortening of the achilles tendon Tight achilles tendon human_phenotype HP:0001771 Achilles tendon contracture HP:0001771 A contracture of the Achilles tendon. https://orcid.org/0000-0002-0736-9199 Achilles tendon contractures https://orcid.org/0000-0002-5316-1399 Shortening of the achilles tendon Tight achilles tendon A deformity of foot and ankle in which the foot is bent down and outwards. SNOMEDCT_US:68284008 UMLS:C0265642 UMLS:C4020866 human_phenotype Equinovalgus deformity HP:0001772 Talipes equinovalgus HP:0001772 A deformity of foot and ankle in which the foot is bent down and outwards. https://orcid.org/0000-0002-0736-9199 A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). HP:0001764 HP:0001766 HP:0001778 HP:0008135 UMLS:C1848673 Hypoplastic feet Short feet Short foot Small feet human_phenotype HP:0001773 Short foot HP:0001773 A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). PMID:19125433 https://orcid.org/0000-0002-0736-9199 Short feet Short foot Small feet true HP:0001774 UMLS:C4025748 human_phenotype HP:0001775 Tarsal osteovalgus HP:0001775 Bilateral clubfoot deformity. UMLS:C1837835 Bilateral clubfeet Bilateral clubfoot Club foot on both sides human_phenotype HP:0001776 Bilateral talipes equinovarus HP:0001776 Bilateral clubfoot deformity. https://orcid.org/0000-0002-0736-9199 Club foot on both sides true HP:0001777 true HP:0001778 true HP:0001779 An anomaly of a toe. UMLS:C2674738 Abnormalities of the toes Abnormality of toe human_phenotype HP:0001780 Abnormal toe morphology HP:0001780 An anomaly of a toe. https://orcid.org/0000-0002-0736-9199 Abnormalities of the toes Abnormality of toe true HP:0001781 An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. UMLS:C4025747 human_phenotype HP:0001782 Bulbous tips of toes HP:0001782 An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. https://orcid.org/0000-0002-0736-9199 Increased side-to-side width of a metatarsal bone. HP:0005907 HP:0008106 UMLS:C1842231 UMLS:C1850161 Wide long bone of foot human_phenotype Broad metatarsals Widened metatarsal shaft HP:0001783 Broad metatarsal HP:0001783 Increased side-to-side width of a metatarsal bone. https://orcid.org/0000-0002-0736-9199 Wide long bone of foot https://orcid.org/0000-0001-5208-3432 true HP:0001784 SNOMEDCT_US:26237000 SNOMEDCT_US:267039000 UMLS:C0235439 Ankle swelling human_phenotype HP:0001785 Ankle swelling HP:0001785 Ankle swelling A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. SNOMEDCT_US:299464006 UMLS:C0576227 Narrow foot Slender feet human_phenotype HP:0001786 Narrow foot HP:0001786 A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. PMID:19125433 Narrow foot Slender feet An abnormality of the birth process. SNOMEDCT_US:274127000 UMLS:C0549629 Abnormal delivery Delivery complication human_phenotype HP:0001787 Abnormal delivery HP:0001787 An abnormality of the birth process. https://orcid.org/0000-0002-0736-9199 Abnormal delivery Delivery complication Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. HP:0002163 SNOMEDCT_US:237266003 SNOMEDCT_US:44223004 UMLS:C0015944 human_phenotype HP:0001788 Premature rupture of membranes HP:0001788 Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. https://orcid.org/0000-0002-0736-9199 The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. HP:0005099 SNOMEDCT_US:276508000 UMLS:C0020305 human_phenotype HP:0001789 The most common causes of hydrops fetalis are hematologic (including isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. Hydrops fetalis HP:0001789 The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. https://orcid.org/0000-0002-0736-9199 A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . SNOMEDCT_US:206538000 SNOMEDCT_US:276509008 UMLS:C0455988 Hydrops fetalis, non-immune Hydrops fetalis, nonimmune Non-immune fetal hydrops Non-immune foetal hydrops Nonimmune hydrops human_phenotype HP:0001790 Nonimmune hydrops fetalis HP:0001790 A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . https://orcid.org/0000-0002-0736-9199 Non-immune foetal hydrops Accumulation of fluid in the peritoneal cavity during the fetal period. SNOMEDCT_US:363125002 UMLS:C1285291 Foetal ascites human_phenotype HP:0001791 Fetal ascites HP:0001791 Accumulation of fluid in the peritoneal cavity during the fetal period. https://orcid.org/0000-0002-0736-9199 Foetal ascites A nail that is diminished in length and width, i.e., underdeveloped nail. HP:0001813 SNOMEDCT_US:11375002 UMLS:C0263523 Hypoplastic nail Hypoplastic nails Nail hypoplasia Small nail Small nails human_phenotype HP:0001792 Small nail HP:0001792 A nail that is diminished in length and width, i.e., underdeveloped nail. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Small nail Small nails true HP:0001793 true HP:0001794 When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. HP:0008413 SNOMEDCT_US:247487009 UMLS:C0423807 Increased nail curvature Nail overcurvature human_phenotype HP:0001795 No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. Hyperconvex nail HP:0001795 When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Increased nail curvature Nail overcurvature true HP:0001796 true HP:0001797 Aplasia of the nail. HP:0007593 HP:0008384 SNOMEDCT_US:23610003 UMLS:C0265998 Absent nails Aplastic nails human_phenotype HP:0001798 Total absence of nails. Anonychia HP:0001798 Aplasia of the nail. https://orcid.org/0000-0002-0736-9199 Absent nails Aplastic nails Decreased length of nail. HP:0200075 SNOMEDCT_US:247488004 UMLS:C0423808 Short nail Short nails human_phenotype HP:0001799 Use this designation when the length is reduced but the width is normal. Short nail HP:0001799 Decreased length of nail. PMID:19125433 Short nail Short nails https://orcid.org/0000-0002-5316-1399 Underdevelopment of the toenail. UMLS:C1837279 Underdeveloped toenails human_phenotype HP:0001800 Hypoplastic toenails HP:0001800 Underdevelopment of the toenail. https://orcid.org/0000-0002-0736-9199 Underdeveloped toenails https://orcid.org/0000-0001-5208-3432 true HP:0001801 Congenital absence of the toenail. UMLS:C1844555 Absent toenail human_phenotype Absent toenails Absent toenails (anonychia) Anonychia of toenails HP:0001802 Absent toenail HP:0001802 Congenital absence of the toenail. https://orcid.org/0000-0002-0736-9199 Absent toenail Absent toenails Absent toenails (anonychia) https://orcid.org/0000-0002-5316-1399 Anonychia of toenails https://orcid.org/0000-0002-5316-1399 Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. MEDDRA:10028702 SNOMEDCT_US:89704006 UMLS:C0150993 Nail pits Nail pitting Pitted nails human_phenotype HP:0001803 Nail pits HP:0001803 Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. PMID:19125433 MEDDRA:10028702 Nail pitting Nail pits Nail pitting Pitted nails Underdevelopment of a fingernail. UMLS:C1856786 Small fingernail Underdeveloped fingernail human_phenotype HP:0001804 Hypoplastic fingernail HP:0001804 Underdevelopment of a fingernail. https://orcid.org/0000-0002-0736-9199 Small fingernail https://orcid.org/0000-0001-5208-3432 Underdeveloped fingernail https://orcid.org/0000-0001-5208-3432 Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. HP:0001819 HP:0200088 SNOMEDCT_US:52897009 UMLS:C0263537 Dystrophic thickened nails Onychogryposis Thick nail Thickened nails human_phenotype HP:0001805 There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. The spelling onychogryposis is occasionally used but it is not correct. Onychogryphosis HP:0001805 Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. PMID:19125433 PMID:30410908 PMID:33021642 Thick nail Thickened nails Detachment of the nail from the nail bed. MEDDRA:10030337 SNOMEDCT_US:75789001 UMLS:C0085661 Detachment of nail Oncholysis human_phenotype HP:0001806 Onycholysis HP:0001806 Detachment of the nail from the nail bed. https://orcid.org/0000-0002-0736-9199 MEDDRA:10030337 Onycholysis Detachment of nail https://orcid.org/0000-0001-5208-3432 Longitudinal, linear prominences in the nail plate. HP:0001801 HP:0001811 SNOMEDCT_US:271768001 UMLS:C0423820 Grooved nails Longitudinal ridging Nail ridging human_phenotype Ridged nails HP:0001807 There may be only one, or several ridges. The affected digits should be specified. Ridged nail HP:0001807 Longitudinal, linear prominences in the nail plate. PMID:19125433 Grooved nails Nail ridging Ridged nails https://orcid.org/0000-0002-5316-1399 Nails that easily break. HP:0001796 UMLS:C1856963 Brittle nails human_phenotype HP:0001808 Fragile nails HP:0001808 Nails that easily break. https://orcid.org/0000-0002-0736-9199 Brittle nails A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. SNOMEDCT_US:85136002 UMLS:C0263530 Longitudinal splitting of nail human_phenotype HP:0001809 This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. Split nail HP:0001809 A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. PMID:19125433 Longitudinal splitting of nail Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. HP:0007558 UMLS:C1833225 Dystrophic toenail changes Poor toenail formation human_phenotype Dystrophic toenails HP:0001810 Dystrophic toenail HP:0001810 Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. https://orcid.org/0000-0002-0736-9199 Poor toenail formation http://naildystrophy.com/ https://orcid.org/0000-0001-5208-3432 true HP:0001811 When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. HP:0008380 UMLS:C1844825 Tubular fingernails human_phenotype HP:0001812 Hyperconvex fingernails HP:0001812 When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. PMID:19125433 https://orcid.org/0000-0002-0736-9199 true HP:0001813 Deeply placed nails. UMLS:C3277753 Deep-set nails human_phenotype HP:0001814 Deep-set nails HP:0001814 Deeply placed nails. https://orcid.org/0000-0002-0736-9199 Deep-set nails true HP:0001815 Nail that appears thin when viewed on end. SNOMEDCT_US:63829008 UMLS:C0423823 Thin nail Thin nails human_phenotype HP:0001816 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. Thin nail HP:0001816 Nail that appears thin when viewed on end. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Thin nail Thin nails Absence of a fingernail. UMLS:C1844554 Absent fingernail Aplasia of the fingernail human_phenotype Anonychia of fingernails HP:0001817 Absent fingernail HP:0001817 Absence of a fingernail. https://orcid.org/0000-0002-0736-9199 Absent fingernail Anonychia of fingernails https://orcid.org/0000-0002-5316-1399 The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). MEDDRA:10034016 SNOMEDCT_US:71906005 UMLS:C0030578 human_phenotype HP:0001818 Paronychia HP:0001818 The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). https://orcid.org/0000-0002-0736-9199 MEDDRA:10034016 Paronychia true HP:0001819 White discoloration of the nails. MEDDRA:10050658 SNOMEDCT_US:111202002 UMLS:C0240182 White discoloration of nails human_phenotype HP:0001820 Leukonychia HP:0001820 White discoloration of the nails. https://orcid.org/0000-0002-0736-9199 MEDDRA:10050658 Leukonychia White discoloration of nails https://orcid.org/0000-0001-5208-3432 Increased width of nail. HP:0008406 UMLS:C1843112 Broad fingernails Broad nail Wide fingernails human_phenotype HP:0001821 Broad nail HP:0001821 Increased width of nail. https://orcid.org/0000-0002-0736-9199 Broad fingernails Broad nail Wide fingernails Lateral deviation of the great toe (i.e., in the direction of the little toe). HP:0004682 SNOMEDCT_US:122480009 SNOMEDCT_US:415692008 UMLS:C0006386 UMLS:C0018536 Bunion Lateral deviation of great toe Lateral deviation of halluces human_phenotype HP:0001822 Hallux valgus HP:0001822 Lateral deviation of the great toe (i.e., in the direction of the little toe). https://orcid.org/0000-0002-0736-9199 Bunion https://orcid.org/0000-0001-5208-3432 true HP:0001823 Reduction of total body weight. SNOMEDCT_US:161832001 SNOMEDCT_US:262285001 SNOMEDCT_US:89362005 UMLS:C1262477 Loss of weight human_phenotype HP:0001824 Weight loss HP:0001824 Reduction of total body weight. https://orcid.org/0000-0002-0736-9199 true HP:0001825 true HP:0001826 Congenital occlusion of a tube in the genital tract. 2008-02-27T04:08:00Z HP:0001534 UMLS:C4025746 human_phenotype HP:0001827 Genital tract atresia HP:0001827 Congenital occlusion of a tube in the genital tract. https://orcid.org/0000-0002-0736-9199 true HP:0001828 A kind of polydactyly characterized by the presence of a supernumerary toe or toes. HP:0009135 SNOMEDCT_US:62218008 UMLS:C0158734 Duplication of bones of the toes Polydactyly of feet Polydactyly of the foot human_phenotype HP:0001829 Foot polydactyly HP:0001829 A kind of polydactyly characterized by the presence of a supernumerary toe or toes. https://orcid.org/0000-0002-0736-9199 Duplication of bones of the toes Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. HP:0010346 UMLS:C2112129 UMLS:C4020865 Extra toe attached near the little toe Polydactyly affecting the 5th toe Postaxial polydactyly of feet Postaxial polydactyly of foot Posterior polydactyly of foot human_phenotype Fibular polydactyly HP:0001830 The modifier postaxial means that the supernumerary digit is not a hallux. Postaxial foot polydactyly HP:0001830 Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. https://orcid.org/0000-0002-0736-9199 Extra toe attached near the little toe https://orcid.org/0000-0002-6548-5200 A toe that appears disproportionately short compared to the foot. HP:0001767 HP:0001781 HP:0001855 HP:0004701 HP:0005889 HP:0008099 UMLS:C1836195 Brachydactyly of the foot Hypoplasia of the toe Hypoplastic toes Short foot phalanges Short toe Short toes Stubby toes human_phenotype HP:0001831 This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. Short toe HP:0001831 A toe that appears disproportionately short compared to the foot. https://orcid.org/0000-0002-0736-9199 Short toe Short toes Stubby toes https://orcid.org/0000-0001-5208-3432 Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). UMLS:C4025745 Abnormality of the long bone of foot human_phenotype HP:0001832 Abnormal metatarsal morphology HP:0001832 Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). https://orcid.org/0000-0002-0736-9199 Abnormality of the long bone of foot https://orcid.org/0000-0001-5208-3432 Increased back to front length of the foot. HP:0008136 HP:0008143 SNOMEDCT_US:299462005 UMLS:C0576225 Disproportionately large feet Long foot large feet long feet human_phenotype HP:0001833 Long foot HP:0001833 Increased back to front length of the foot. https://orcid.org/0000-0002-0736-9199 Disproportionately large feet Long foot large feet long feet true HP:0001834 true HP:0001835 Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. UMLS:C4021774 Camptodactyly of feet human_phenotype HP:0001836 Camptodactyly of toe HP:0001836 Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. https://orcid.org/0000-0002-0736-9199 Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. UMLS:C1865038 Broad toe Wide toe human_phenotype HP:0001837 Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. Broad toe HP:0001837 Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. PMID:19125433 Broad toe Wide toe https://orcid.org/0000-0001-5208-3432 The presence of both a prominent heel and a convex contour of the sole. HP:0001835 HP:0004693 HP:0010218 MEDDRA:10066242 SNOMEDCT_US:205082007 SNOMEDCT_US:205359003 UMLS:C0240912 Congenital vertical talus Rocker bottom feet Rocker bottom foot Rocker-bottom feet Rockerbottom feet human_phenotype HP:0001838 Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. Rocker bottom foot HP:0001838 The presence of both a prominent heel and a convex contour of the sole. PMID:19125433 https://orcid.org/0000-0002-0736-9199 MEDDRA:10066242 Vertical talus Rocker bottom feet Rocker bottom foot Rocker-bottom feet Rockerbottom feet A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. HP:0003062 HP:0005904 SNOMEDCT_US:205358006 UMLS:C0432028 Foot ectrodactyly Lobster-claw foot deformity Split foot Split-foot human_phenotype HP:0001839 Split foot HP:0001839 A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. https://orcid.org/0009-0006-4530-3154 Lobster-claw foot deformity Split foot Split-foot The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. HP:0001768 HP:0010217 SNOMEDCT_US:77599005 UMLS:C0231791 UMLS:C4082169 Forefoot varus Front half of foot turns inward Metatarsus adductovarsus Metatarsus varus Sickle foot Sickled feet human_phenotype Intoe HP:0001840 Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. Metatarsus adductus HP:0001840 The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Front half of foot turns inward https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Duplication of all or part of the first ray. HP:0009607 HP:0010050 UMLS:C1866339 UMLS:C2112942 Partial/complete duplication of the phalanges of the big toe Polydactyly affecting the hallux Preaxial hallucal polydactyly Preaxial polydactyly of feet Preaxial polydactyly of foot Preaxial polydactyly of the feet Preaxial polydactyly, feet human_phenotype HP:0001841 This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. Preaxial foot polydactyly HP:0001841 Duplication of all or part of the first ray. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the phalanges of the big toe https://orcid.org/0000-0002-0736-9199 Preaxial polydactyly of the feet https://orcid.org/0000-0002-0736-9199 UMLS:C4025744 Acroosteolysis of feet human_phenotype HP:0001842 Foot acroosteolysis HP:0001842 true HP:0001843 This term applies for all abnormalities of the big toe, also called hallux. UMLS:C4021773 Abnormalities of the hallux Abnormality of the big toe Abnormality of the hallux human_phenotype HP:0001844 Abnormal hallux morphology HP:0001844 This term applies for all abnormalities of the big toe, also called hallux. https://orcid.org/0000-0002-0736-9199 Abnormality of the big toe https://orcid.org/0000-0001-5208-3432 Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. SNOMEDCT_US:203541003 UMLS:C0920299 Overlapping toe Overlapping toes Overriding toes human_phenotype Crossover toe HP:0001845 This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. Overlapping toe HP:0001845 Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Overlapping toe Overlapping toes https://orcid.org/0000-0002-5316-1399 Overriding toes Crossover toe true HP:0001846 Increased length of the big toe. HP:0001867 UMLS:C1864375 Increased length of the hallux Large halluces Long big toe Long halluces human_phenotype HP:0001847 Long hallux HP:0001847 Increased length of the big toe. https://orcid.org/0000-0002-0736-9199 Long big toe https://orcid.org/0000-0001-5208-3432 This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). HP:0001774 HP:0008120 Foot and ankle bend up toward shin of leg UMLS:C1860450 Calcaneovalgus Calcaneovalgus Foot Valgus position of the calcaneus human_phenotype HP:0001848 Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. Calcaneovalgus deformity HP:0001848 This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). https://orcid.org/0000-0002-0736-9199 Foot and ankle bend up toward shin of leg https://orcid.org/0000-0002-6548-5200 A developmental defect resulting in the presence of fewer than the normal number of toes. HP:0001777 SNOMEDCT_US:249820005 UMLS:C0426934 Missing toes Oligodactyly of feet human_phenotype HP:0001849 Foot oligodactyly HP:0001849 A developmental defect resulting in the presence of fewer than the normal number of toes. https://orcid.org/0000-0002-0736-9199 Missing toes An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. UMLS:C1862136 Abnormal ankle bones Abnormal tarsals human_phenotype HP:0001850 Abnormality of the tarsal bones HP:0001850 An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. https://orcid.org/0000-0002-0736-9199 Abnormal ankle bones https://orcid.org/0000-0001-5208-3432 true HP:0001851 A widely spaced gap between the first toe (the great toe) and the second toe. UMLS:C1840069 Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Space between great toe and second toe Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe human_phenotype HP:0001852 Sandal gap HP:0001852 A widely spaced gap between the first toe (the great toe) and the second toe. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe https://orcid.org/0000-0001-5208-3432 Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe HP:0005615 UMLS:C4021772 Bifid distal phalanges of toes Bifid terminal phalanx of toe Notched outermost bones of toes human_phenotype HP:0001853 Bifid distal phalanx of toe HP:0001853 Notched outermost bones of toes https://orcid.org/0000-0001-6908-9849 Gout affecting the Metatarsophalangeal joint of big toe. SNOMEDCT_US:67148009 UMLS:C0221168 Gout of big toe human_phenotype HP:0001854 Podagra HP:0001854 Gout affecting the Metatarsophalangeal joint of big toe. https://orcid.org/0009-0006-4530-3154 true HP:0001855 true HP:0001856 Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. UMLS:C4021771 Hypoplastic distal phalanges of feet Short outermost bone of toe human_phenotype HP:0001857 This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Short distal phalanx of toe HP:0001857 Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. PMID:19125433 Short outermost bone of toe https://orcid.org/0000-0001-5208-3432 true HP:0001858 Bony fusion at the distal interphalangeal joint of the second, third, fourth, or fifth toe. HP:0010191 HP:0100236 UMLS:C4025743 human_phenotype HP:0001859 Distal toe symphalangism HP:0001859 true HP:0001860 true HP:0001861 HP:0006121 human_phenotype HP:0001862 obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) true HP:0001862 Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). Toe curvature UMLS:C4021770 UMLS:C4280587 Clinodactyly of feet human_phenotype HP:0001863 Toe clinodactyly HP:0001863 Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). https://orcid.org/0000-0002-0736-9199 Toe curvature https://orcid.org/0000-0001-5208-3432 Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). Curvature of the little toe Curvature of the pinkie toe Curvature of the pinky toe UMLS:C4025741 UMLS:C4280586 human_phenotype HP:0001864 Clinodactyly of the 5th toe HP:0001864 Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). https://orcid.org/0000-0002-0736-9199 Curvature of the little toe https://orcid.org/0000-0001-5208-3432 Curvature of the pinkie toe https://orcid.org/0000-0001-5208-3432 Curvature of the pinky toe https://orcid.org/0000-0001-5208-3432 true HP:0001865 true HP:0001866 true HP:0001867 The spontaneous detachment of a foot from the body due to long standing pathology. UMLS:C4025740 human_phenotype HP:0001868 Autoamputation of foot HP:0001868 The spontaneous detachment of a foot from the body due to long standing pathology. PMID:31633102 https://orcid.org/0000-0002-0736-9199 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. UMLS:C1857953 Deep wrinkles in soles of feet human_phenotype HP:0001869 Deep plantar creases HP:0001869 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. https://orcid.org/0000-0002-0736-9199 Deep wrinkles in soles of feet https://orcid.org/0000-0002-6548-5200 UMLS:C4025739 Acroosteolysis of distal phalanges of feet human_phenotype HP:0001870 Acroosteolysis of distal phalanges (feet) HP:0001870 An abnormality of the hematopoietic system. HP:0003135 SNOMEDCT_US:191124002 SNOMEDCT_US:34093004 UMLS:C0018939 UMLS:C0850715 UMLS:C4020864 Abnormality of blood and blood-forming tissues Abnormality of the haematopoietic system Abnormality of the hematopoietic system Haematological abnormality Hematological abnormality human_phenotype Hematologic disease HP:0001871 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. Abnormality of blood and blood-forming tissues HP:0001871 An abnormality of the hematopoietic system. https://orcid.org/0000-0002-0736-9199 Abnormality of blood and blood-forming tissues Abnormality of the haematopoietic system Haematological abnormality An abnormality of platelets. HP:0004807 HP:0005554 SNOMEDCT_US:127566005 SNOMEDCT_US:32942005 UMLS:C0040015 UMLS:C0151854 UMLS:C4020863 Platelet abnormalities human_phenotype Blood platelet disease Thrombasthenia HP:0001872 Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. Abnormality of thrombocytes HP:0001872 An abnormality of platelets. https://orcid.org/0000-0002-0736-9199 Platelet abnormalities A reduction in the number of circulating thrombocytes. HP:0001906 HP:0004838 HP:0008175 HP:0008268 HP:0008302 SNOMEDCT_US:302215000 SNOMEDCT_US:415116008 UMLS:C0040034 UMLS:C0392386 Low platelet count human_phenotype HP:0001873 Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). Thrombocytopenia HP:0001873 A reduction in the number of circulating thrombocytes. https://orcid.org/0000-0002-0736-9199 Low platelet count A neutrophil abnormality. SNOMEDCT_US:250274006 UMLS:C0427515 Abnormality of neutrophil Abnormality of neutrophils Abnormality of polymorphonuclear neutrophils human_phenotype HP:0001874 Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day. Abnormality of neutrophils HP:0001874 A neutrophil abnormality. PMID:21094463 PMID:26819959 https://orcid.org/0000-0002-0736-9199 Abnormality of neutrophils Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. HP:0005515 HP:0005533 SNOMEDCT_US:165517008 UMLS:C0853697 Low blood neutrophil count Low neutrophil count Neutropenia Neutropoenia Peripheral neutropenia human_phenotype HP:0001875 Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood. Decreased total neutrophil count HP:0001875 Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. PMID:25642312 https://orcid.org/0000-0002-0736-9199 Low blood neutrophil count https://orcid.org/0000-0001-5208-3432 Low neutrophil count Neutropoenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). SNOMEDCT_US:127034005 UMLS:C0030312 Low blood cell count Pancytopaenia human_phenotype HP:0001876 Pancytopenia HP:0001876 An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). https://orcid.org/0000-0002-0736-9199 Low blood cell count https://orcid.org/0000-0001-5208-3432 Pancytopaenia Any structural abnormality of erythrocytes (red-blood cells). HP:0010973 SNOMEDCT_US:12222001 UMLS:C0391870 UMLS:C4020862 Abnormality of erythrocytes Abnormality of red blood cells human_phenotype Abnormality of erythroid lineage cell HP:0001877 Abnormal erythrocyte morphology HP:0001877 Any structural abnormality of erythrocytes (red-blood cells). https://orcid.org/0000-0002-0736-9199 A type of anemia caused by premature destruction of red blood cells (hemolysis). HP:0001910 HP:0004827 HP:0004853 HP:0004868 HP:0005503 SNOMEDCT_US:61261009 UMLS:C0002878 Haemolytic anaemia Haemolytic anemia Hemolytic anaemia Increased hemolysis human_phenotype HP:0001878 Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. Hemolytic anemia HP:0001878 A type of anemia caused by premature destruction of red blood cells (hemolysis). https://orcid.org/0000-0002-0736-9199 Haemolytic anaemia Hemolytic anaemia An abnormal count or structure of eosinophils. UMLS:C4025738 Abnormality of eosinophils human_phenotype HP:0001879 Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. Abnormal eosinophil morphology HP:0001879 An abnormal count or structure of eosinophils. PMID:23154224 https://orcid.org/0000-0002-0736-9199 Increased count of eosinophils in the blood. UMLS:C0014457 Eosinophilia High blood eosinophil count Increased eosinophil count human_phenotype HP:0001880 Increased total eosinophil count HP:0001880 Increased count of eosinophils in the blood. https://orcid.org/0009-0006-4530-3154 High blood eosinophil count https://orcid.org/0000-0001-5208-3432 An abnormality of leukocytes. SNOMEDCT_US:134199001 SNOMEDCT_US:24827003 UMLS:C0152009 Abnormality of leukocytes human_phenotype HP:0001881 Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. Abnormal leukocyte morphology HP:0001881 An abnormality of leukocytes. https://orcid.org/0000-0002-0736-9199 An abnormal decreased number of leukocytes in the blood. SNOMEDCT_US:84828003 UMLS:C0023530 Decreased blood leukocyte number Leukopenia Low white blood cell count human_phenotype HP:0001882 Decreased total leukocyte count HP:0001882 An abnormal decreased number of leukocytes in the blood. https://orcid.org/0000-0002-0736-9199 Decreased blood leukocyte number https://orcid.org/0000-0001-5208-3432 Low white blood cell count A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. SNOMEDCT_US:398309008 UMLS:C1301937 UMLS:C3552713 human_phenotype Talipes foot deformities HP:0001883 Talipes means (a deformity of) foot and ankle. There are four types of talipes. (1) Talipes equinovarus - the foot is pointing inwards and down (the most common form), (2) Talipes equinovalgus - where the foot points outwards and down, (3) Talipes calcaneovarus - where the foot points inwards and up, (4) Talipes calcaneovalgus - where the foot points inwards and down. Talipes HP:0001883 A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. https://orcid.org/0009-0006-4530-3154 Talipes foot deformities https://orcid.org/0000-0002-5316-1399 Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. SNOMEDCT_US:205083002 SNOMEDCT_US:31668003 UMLS:C0152237 Pes calcaneovarus human_phenotype HP:0001884 Talipes calcaneovalgus HP:0001884 Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. https://orcid.org/0000-0002-0736-9199 Underdevelopment (hypoplasia) of the second toe. UMLS:C4021769 Short second toe human_phenotype HP:0001885 Short 2nd toe HP:0001885 Underdevelopment (hypoplasia) of the second toe. https://orcid.org/0000-0002-0736-9199 Short second toe An infection of bone of the foot. UMLS:C4025737 Foot bone infection human_phenotype HP:0001886 Foot osteomyelitis HP:0001886 Foot bone infection true HP:0001887 A reduced number of lymphocytes in the blood. SNOMEDCT_US:48813009 UMLS:C0024312 Absolute lymphocyte count decrease Decreased blood lymphocyte number Low lymphocyte number Lymphocytopenia Lymphopenia human_phenotype HP:0001888 Decreased total lymphocyte count HP:0001888 A reduced number of lymphocytes in the blood. https://orcid.org/0000-0002-0736-9199 Decreased blood lymphocyte number https://orcid.org/0000-0001-5208-3432 Low lymphocyte number https://orcid.org/0000-0001-7941-2961 Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). HP:0004858 SNOMEDCT_US:53165003 UMLS:C0002888 Megaloblastic anaemia human_phenotype HP:0001889 Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. Megaloblastic anemia HP:0001889 Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). https://orcid.org/0000-0002-0736-9199 Megaloblastic anaemia An autoimmune form of hemolytic anemia. SNOMEDCT_US:413603009 UMLS:C0002880 Autoimmune haemolytic anaemia Autoimmune haemolytic anemia Autoimmune hemolytic anaemia Hemolytic anemia, autoimmune human_phenotype HP:0001890 Autoimmune hemolytic anemia HP:0001890 An autoimmune form of hemolytic anemia. https://orcid.org/0000-0002-0736-9199 Autoimmune haemolytic anaemia Autoimmune hemolytic anaemia SNOMEDCT_US:87522002 UMLS:C0162316 Ferropenic Iron deficiency anaemia Iron-deficiency anaemia Iron-deficiency anemia human_phenotype HP:0001891 Iron deficiency anemia HP:0001891 Ferropenic https://orcid.org/0000-0001-6908-9849 Iron deficiency anaemia Iron-deficiency anaemia An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. HP:0004830 HP:0004834 HP:0004849 HP:0004862 HP:0004865 HP:0008183 SNOMEDCT_US:248250000 SNOMEDCT_US:64779008 UMLS:C1458140 Bleeding diathesis Bleeding tendency Hemorrhagic diathesis human_phenotype HP:0001892 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. Abnormal bleeding HP:0001892 An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. https://orcid.org/0000-0002-0736-9199 Bleeding tendency true HP:0001893 Increased numbers of platelets in the peripheral blood. SNOMEDCT_US:415115007 SNOMEDCT_US:6631009 UMLS:C0836924 UMLS:C0857460 Increased number of platelets in blood Increased platelet count human_phenotype Thrombocythaemia Thrombocythemia HP:0001894 Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. Thrombocytosis HP:0001894 Increased numbers of platelets in the peripheral blood. https://orcid.org/0000-0002-0736-9199 Increased number of platelets in blood https://orcid.org/0000-0002-6548-5200 UMLS:C0235983 Normochromic anaemia human_phenotype HP:0001895 Normochromic anemia HP:0001895 Normochromic anaemia A reduced number of reticulocytes in the peripheral blood. SNOMEDCT_US:124961001 UMLS:C0858867 human_phenotype HP:0001896 Reticulocytopenia HP:0001896 A reduced number of reticulocytes in the peripheral blood. https://orcid.org/0000-0002-0736-9199 A kind of anemia in which the volume of the red blood cells is normal. SNOMEDCT_US:300980002 UMLS:C0085577 Normocytic anaemia human_phenotype HP:0001897 In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). Normocytic anemia HP:0001897 A kind of anemia in which the volume of the red blood cells is normal. https://orcid.org/0000-0002-0736-9199 Normocytic anaemia The presence of an increased mass of red blood cells in the circulation. UMLS:C1853288 Increased RBC mass human_phenotype HP:0001898 Increased red blood cell mass HP:0001898 The presence of an increased mass of red blood cells in the circulation. https://orcid.org/0000-0002-0736-9199 Increased RBC mass An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. UMLS:C0239935 Increased Hct human_phenotype HP:0001899 Increased hematocrit HP:0001899 An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. https://orcid.org/0000-0002-0736-9199 Increased Hct Concentration of hemoglobin in the blood circulation above the upper limit of normal. HP:0020063 SNOMEDCT_US:131141003 UMLS:C0549448 Increased Hb Increased Hb concentration Increased haemoglobin Increased haemoglobin concentration Increased hemoglobin Increased hemoglobin concentration human_phenotype HP:0001900 Increased circulating hemoglobin concentration HP:0001900 Increased Hb Increased Hb concentration Increased haemoglobin Increased haemoglobin concentration Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. HP:0001893 SNOMEDCT_US:109992005 SNOMEDCT_US:127062003 UMLS:C0032461 UMLS:C1527405 Abnormally shaped erythrocytes Erythrocytosis Increased red blood cells Polyglobulia human_phenotype HP:0001901 Polycythemia HP:0001901 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. https://orcid.org/0000-0002-0736-9199 Abnormally shaped erythrocytes https://orcid.org/0000-0001-6908-9849 Increased red blood cells https://orcid.org/0000-0002-6548-5200 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). SNOMEDCT_US:44687006 UMLS:C0333864 human_phenotype HP:0001902 This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly. Giant platelets HP:0001902 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). https://orcid.org/0000-0002-0736-9199 A reduction in erythrocytes volume or hemoglobin concentration. HP:0001926 HP:0003136 HP:0005509 SNOMEDCT_US:165397008 SNOMEDCT_US:271737000 UMLS:C0002871 UMLS:C0162119 Anaemia Low number of red blood cells or haemoglobin Low number of red blood cells or hemoglobin human_phenotype Decreased haemoglobin Decreased hemoglobin HP:0001903 Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. Anemia HP:0001903 A reduction in erythrocytes volume or hemoglobin concentration. https://orcid.org/0000-0002-0736-9199 Low number of red blood cells or haemoglobin Low number of red blood cells or hemoglobin https://orcid.org/0000-0002-6548-5200 Decreased haemoglobin Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. SNOMEDCT_US:234425008 UMLS:C0340971 Neutropenia in presence of anti-neutropil antibodies human_phenotype HP:0001904 The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction. Autoimmune neutropenia HP:0001904 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, accompanied by the detection of anti-neutrophil antibodies. PMID:25642312 https://orcid.org/0000-0002-0736-9199 Thrombocytopenia with congenital onset. HP:0004869 UMLS:C0272278 thrombocytopenia, congenital human_phenotype HP:0001905 Congenital thrombocytopenia HP:0001905 Thrombocytopenia with congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0001906 The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. SNOMEDCT_US:13713005 SNOMEDCT_US:371039008 UMLS:C0040038 UMLS:C0085307 Blood clot in blood vessel Thromboembolic disease Thromboembolic events human_phenotype Embolism and thrombosis HP:0001907 Thromboembolism HP:0001907 The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. https://orcid.org/0000-0002-0736-9199 Blood clot in blood vessel http://purl.obolibrary.org/obo/hp#layperson https://orcid.org/0000-0002-6548-5200 Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. SNOMEDCT_US:167923006 SNOMEDCT_US:41614006 UMLS:C0178416 Hypoplastic anaemia human_phenotype HP:0001908 Hypoplastic anemia HP:0001908 Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. https://orcid.org/0000-0002-0736-9199 Hypoplastic anaemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. HP:0005519 HP:0006726 Blood cancer SNOMEDCT_US:129154003 SNOMEDCT_US:269475001 SNOMEDCT_US:87163000 SNOMEDCT_US:93143009 UMLS:C0023418 UMLS:C0376545 Leukaemia human_phenotype HP:0001909 Leukemia HP:0001909 A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. NCIT:C3161 https://orcid.org/0000-0002-0736-9199 Blood cancer https://orcid.org/0000-0001-5208-3432 Leukaemia true HP:0001910 Any structural abnormality or abnormal count of granulocytes. HP:0005438 SNOMEDCT_US:250274006 UMLS:C0427515 Abnormality of granulocytes human_phenotype HP:0001911 Abnormal granulocyte morphology HP:0001911 Any structural abnormality or abnormal count of granulocytes. https://orcid.org/0000-0002-0736-9199 Any structural abnormality or abnormal count of basophils. UMLS:C4025736 Abnormality of basophils human_phenotype HP:0001912 Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. Abnormal basophil morphology HP:0001912 Any structural abnormality or abnormal count of basophils. PMID:24075190 https://orcid.org/0000-0002-0736-9199 Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group. SNOMEDCT_US:17182001 SNOMEDCT_US:417672002 UMLS:C0001824 Granulocytopenia human_phenotype HP:0001913 Decreased total granulocyte count HP:0001913 Abnormal decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 true HP:0001914 Aplastic anemia is defined as pancytopenia with a hypocellular marrow. SNOMEDCT_US:304132006 SNOMEDCT_US:306058006 UMLS:C0002874 Aplastic anaemia human_phenotype HP:0001915 Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. Aplastic anemia HP:0001915 Aplastic anemia is defined as pancytopenia with a hypocellular marrow. PMID:21239768 https://orcid.org/0000-0002-0736-9199 Aplastic anaemia true HP:0001916 A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). SNOMEDCT_US:48713002 UMLS:C0268382 human_phenotype HP:0001917 In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. Renal amyloidosis HP:0001917 A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). PMID:25852856 https://orcid.org/0000-0002-0736-9199 true HP:0001918 Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). SNOMEDCT_US:14350001000004108 SNOMEDCT_US:14669001 UMLS:C0022660 UMLS:C2609414 AKI Acute kidney failure Acute renal failure human_phenotype HP:0001919 Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. Acute kidney injury HP:0001919 Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). https://orcid.org/0000-0002-0736-9199 AKI Acute kidney failure https://orcid.org/0000-0001-5208-3432 The presence of stenosis of the renal artery. Fyler:2634 SNOMEDCT_US:282664001 SNOMEDCT_US:302233006 UMLS:C0035067 Narrowing of kidney artery human_phenotype HP:0001920 Renal artery stenosis HP:0001920 The presence of stenosis of the renal artery. https://orcid.org/0000-0002-0736-9199 Narrowing of kidney artery https://orcid.org/0000-0001-5208-3432 true HP:0001921 The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. HP:0008147 HP:0008329 UMLS:C1836855 Enlarged lysosomal vacuoles in lymphocytes Vacuolated blood lymphocytes human_phenotype HP:0001922 Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. Vacuolated lymphocytes HP:0001922 The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. PMID:20633042 https://orcid.org/0000-0002-0736-9199 An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. SNOMEDCT_US:46049004 UMLS:C0206160 Increased immature red blood cells Increased number of immature red blood cells Increased reticulocyte count Increased reticulocytes human_phenotype HP:0001923 Reticulocytosis HP:0001923 An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. https://orcid.org/0000-0002-0736-9199 Increased immature red blood cells https://orcid.org/0000-0002-6548-5200 Increased number of immature red blood cells https://orcid.org/0000-0002-6548-5200 Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). HP:0100791 SNOMEDCT_US:41841004 UMLS:C0002896 Hypersideremic anaemia Hypersideremic anemia Sideroblastic anaemia human_phenotype HP:0001924 Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. Sideroblastic anemia HP:0001924 Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). https://orcid.org/0000-0002-0736-9199 Hypersideremic anaemia Sideroblastic anaemia true HP:0001925 true HP:0001926 Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. HP:0005552 SNOMEDCT_US:250249008 UMLS:C0687751 Acanthocytes Red cell acanthocytosis human_phenotype HP:0001927 Acanthocytosis HP:0001927 Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. https://orcid.org/0000-0002-0736-9199 An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. SNOMEDCT_US:362970003 SNOMEDCT_US:64779008 UMLS:C0005779 UMLS:C0019087 UMLS:C1846821 Abnormal blood coagulation studies Coagulation abnormalities Coagulation abnormality Haemorrhagic disorders human_phenotype Blood coagulation disorder HP:0001928 Abnormality of coagulation HP:0001928 An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. https://orcid.org/0000-0002-0736-9199 Haemorrhagic disorders https://orcid.org/0009-0006-4530-3154 Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. SNOMEDCT_US:49762007 UMLS:C0015523 Low factor XI activity human_phenotype Factor XI deficiency HP:0001929 Reduced factor XI activity HP:0001929 Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. https://orcid.org/0000-0002-0736-9199 UMLS:C4025735 Nonspherocytic hemolytic anaemia human_phenotype HP:0001930 Nonspherocytic hemolytic anemia HP:0001930 Nonspherocytic hemolytic anaemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. SNOMEDCT_US:44452003 UMLS:C0002884 Hypochromic anemia human_phenotype HP:0001931 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). Hypochromic anemia HP:0001931 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. https://orcid.org/0000-0002-0736-9199 true HP:0001932 This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). 2008-02-28T07:14:00Z UMLS:C0854107 Bleeding below the skin Subcutaneous haemorrhage human_phenotype HP:0001933 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. Subcutaneous hemorrhage HP:0001933 This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). https://orcid.org/0000-0002-0736-9199 Bleeding below the skin https://orcid.org/0000-0001-5208-3432 Subcutaneous haemorrhage HP:0007463 UMLS:C1844374 Excessive bleeding after minor trauma Frequent bleeding with trauma Prolonged bleeding after minor trauma human_phenotype HP:0001934 Persistent bleeding after trauma HP:0001934 Excessive bleeding after minor trauma Frequent bleeding with trauma Prolonged bleeding after minor trauma A kind of anemia in which the volume of the red blood cells is reduced. SNOMEDCT_US:234349007 UMLS:C0085576 Microcytic anaemia human_phenotype HP:0001935 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). Microcytic anemia HP:0001935 A kind of anemia in which the volume of the red blood cells is reduced. https://orcid.org/0000-0002-0736-9199 Microcytic anaemia true HP:0001936 SNOMEDCT_US:51071000 UMLS:C0221021 Microangiopathic hemolytic anaemia human_phenotype HP:0001937 Microangiopathic hemolytic anemia HP:0001937 Microangiopathic hemolytic anaemia true HP:0001938 HP:0002146 HP:0004355 HP:0004367 UMLS:C4021768 Laboratory abnormality Metabolism abnormality human_phenotype HP:0001939 Abnormality of metabolism/homeostasis HP:0001939 Laboratory abnormality Metabolism abnormality true HP:0001940 Abnormal acid accumulation or depletion of base. HP:0001940 SNOMEDCT_US:51387008 UMLS:C0001122 human_phenotype HP:0001941 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. Acidosis HP:0001941 Abnormal acid accumulation or depletion of base. PMID:24381489 https://orcid.org/0000-0002-0736-9199 Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. HP:0004895 HP:0004907 SNOMEDCT_US:59455009 UMLS:C0220981 human_phenotype HP:0001942 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. Metabolic acidosis HP:0001942 Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. PMID:17936961 PMID:31418093 https://orcid.org/0000-0002-0736-9199 A decreased concentration of glucose in the blood. HP:0003356 SNOMEDCT_US:237630007 SNOMEDCT_US:271327008 SNOMEDCT_US:302866003 UMLS:C0020615 Hypoglycaemia Low blood sugar human_phenotype HP:0001943 Hypoglycemia HP:0001943 A decreased concentration of glucose in the blood. https://orcid.org/0000-0002-0736-9199 Low blood sugar https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:34095006 UMLS:C0011175 Dehydration Exsiccosis human_phenotype HP:0001944 Dehydration HP:0001944 Dehydration Body temperature elevated above the normal range. SNOMEDCT_US:386661006 SNOMEDCT_US:50177009 UMLS:C0015967 Fever Hyperthermia Pyrexia human_phenotype HP:0001945 Fever has been defined as a state of elevated core temperature, which is often, but not necessarily, part of the defensive responses of multicellular organisms (host) to the invasion of live (microorganisms) or inanimate matter recognized as pathogenic or alien by the host. The febrile response (of which fever is a component) is a complex physiologic reaction to disease, involving a cytokine-mediated rise in core temperature, generation of acute phase reactants, and activation of numerous physiologic, endocrinologic, and immunologic systems. The rise in temperature during fever is to be distinguished from that occurring during episodes of hyperthermia. Unlike fever, hyperthermia involves an unregulated rise in body temperature in which pyrogenic cytokines are not directly involved and against which standard antipyretics are ineffective. It represents a failure of thermoregulatory homeostasis, in which there is uncontrolled heat production, inadequate heat dissipation, or defective hypothalamic thermoregulation. Fever HP:0001945 Body temperature elevated above the normal range. PMID:9759682 https://orcid.org/0009-0006-4530-3154 Fever Presence of elevated levels of ketone bodies in the body. HP:0003543 SNOMEDCT_US:213281004 SNOMEDCT_US:2538008 UMLS:C0022638 UMLS:C0235430 High levels of ketone bodies Hyperketosis human_phenotype HP:0001946 Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. The predominant ketones being acetoacetate, acetone, and beta-hydroxybutyrate. Ketosis HP:0001946 Presence of elevated levels of ketone bodies in the body. PMID:28278308 https://orcid.org/0000-0002-0736-9199 High levels of ketone bodies https://orcid.org/0000-0001-5208-3432 Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. SNOMEDCT_US:1776003 UMLS:C0001126 Accumulation of acid in body due to kidney problem human_phenotype HP:0001947 Renal tubular acidosis HP:0001947 Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. https://orcid.org/0000-0002-0736-9199 Accumulation of acid in body due to kidney problem https://orcid.org/0000-0002-6548-5200 Depletion of acid or accumulation base in the body fluids. SNOMEDCT_US:21420006 UMLS:C0002063 human_phenotype HP:0001948 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. Alkalosis HP:0001948 Depletion of acid or accumulation base in the body fluids. PMID:24381489 https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:22774003 UMLS:C0085570 human_phenotype HP:0001949 Hypokalemic alkalosis HP:0001949 Alkalosis due to excess loss of carbon dioxide from the body. SNOMEDCT_US:111378004 UMLS:C0002064 human_phenotype HP:0001950 Respiratory alkalosis HP:0001950 Alkalosis due to excess loss of carbon dioxide from the body. https://orcid.org/0000-0002-0736-9199 UMLS:C1839541 human_phenotype HP:0001951 Episodic ammonia intoxication HP:0001951 Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). HP:0000833 Abnormal glucose tolerance UMLS:C0235401 Glucose intolerance human_phenotype HP:0001952 Glucose intolerance HP:0001952 Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). PMID:29763085 Glucose intolerance A type of diabetic metabolic abnormality with an accumulation of ketone bodies. HP:0008253 SNOMEDCT_US:420422005 UMLS:C0011880 Diabetic ketosis human_phenotype HP:0001953 Diabetic ketoacidosis HP:0001953 A type of diabetic metabolic abnormality with an accumulation of ketone bodies. https://orcid.org/0000-0002-0736-9199 Periodic (episodic or recurrent) bouts of fever. HP:0004903 HP:0005962 HP:0005966 HP:0005980 SNOMEDCT_US:77957000 UMLS:C0277799 Episodic fever Hyperthermia, episodic Increased body temperature, episodic Intermittent fever human_phenotype HP:0001954 Recurrent fever HP:0001954 Periodic (episodic or recurrent) bouts of fever. https://orcid.org/0000-0002-0736-9199 Episodic fever Increased body temperature, episodic Intermittent fever Episodes of fever for which no infectious cause can be identified. UMLS:C1844662 Unexplained fevers human_phenotype HP:0001955 Unexplained fevers HP:0001955 Episodes of fever for which no infectious cause can be identified. https://orcid.org/0000-0002-0736-9199 Unexplained fevers Obesity located preferentially in the trunk of the body as opposed to the extremities. HP:0008885 SNOMEDCT_US:248311001 UMLS:C0311277 Centripetal obesity Truncal obesity human_phenotype HP:0001956 Truncal obesity HP:0001956 Obesity located preferentially in the trunk of the body as opposed to the extremities. https://orcid.org/0000-0002-0736-9199 Truncal obesity true HP:0001957 UMLS:C1865292 human_phenotype HP:0001958 Nonketotic hypoglycemia HP:0001958 Excessive thirst manifested by excessive fluid intake. SNOMEDCT_US:17173007 SNOMEDCT_US:267026004 UMLS:C0085602 Extreme thirst human_phenotype HP:0001959 Polydipsia HP:0001959 Extreme thirst https://orcid.org/0000-0002-6548-5200 UMLS:C0740898 human_phenotype HP:0001960 Hypokalemic metabolic alkalosis HP:0001960 A congenital defect characterized by underdevelopment of a ventricle of the heart. Underdeveloped cardiac ventricle human_phenotype HP:0001961 Hypoplastic ventricle HP:0001961 Underdeveloped cardiac ventricle https://orcid.org/0000-0001-5208-3432 A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. HP:0001676 SNOMEDCT_US:80313002 UMLS:C0030252 Heart palpitations Missed heart beat Palpitations Skipped heart beat human_phenotype HP:0001962 Palpitations HP:0001962 A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. https://orcid.org/0000-0002-0736-9199 Missed heart beat Palpitations Skipped heart beat A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. UMLS:C1836752 Abnormal speech discrimination Poor speech discrimination human_phenotype HP:0001963 Abnormal speech discrimination HP:0001963 A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. https://orcid.org/0000-0002-0736-9199 Abnormal speech discrimination Poor speech discrimination Absence or underdevelopment of the metatarsal bones. UMLS:C1860182 Absent or hypoplastic metatarsal Absent/hypoplastic metacarpals Absent/hypoplastic metatarsals Absent/small long bone of foot Absent/underdeveloped long bone of foot Aplastic/hypoplastic metatarsals human_phenotype HP:0001964 Aplasia/Hypoplasia of metatarsal bones HP:0001964 Absence or underdevelopment of the metatarsal bones. https://orcid.org/0000-0002-0736-9199 Absent/small long bone of foot https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped long bone of foot https://orcid.org/0000-0001-5208-3432 Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. UMLS:C4025734 Abnormality of the scalp Anomaly of scalp human_phenotype HP:0001965 The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. Abnormal scalp morphology HP:0001965 Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. https://orcid.org/0000-0002-0736-9199 Abnormality of the scalp Anomaly of scalp https://orcid.org/0000-0001-5889-4463 An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. UMLS:C4025733 Abnormality glomerular mesangium morphology Abnormality of the glomerular mesangium Mesangial abnormality human_phenotype HP:0001966 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. Abnormal glomerular mesangium morphology HP:0001966 An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. PMID:19470685 PMID:20828589 https://orcid.org/0000-0002-0736-9199 Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas. HP:0004728 SNOMEDCT_US:111406002 UMLS:C0268747 Diffuse mesangial sclerosis glomerulopathy Mesangial sclerosis human_phenotype HP:0001967 Diffuse mesangial sclerosis HP:0001967 Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas. PMID:26408240 https://orcid.org/0000-0002-0736-9199 true HP:0001968 An abnormality that involves the tubules and interstitial tissue of the kidney. HP:0008654 SNOMEDCT_US:28689008 SNOMEDCT_US:428255004 UMLS:C0041349 UMLS:C4025732 Tubulointerstitial abnormality human_phenotype Tubulointerstitial nephropathy HP:0001969 Abnormal tubulointerstitial morphology HP:0001969 An abnormality that involves the tubules and interstitial tissue of the kidney. https://orcid.org/0000-0002-0736-9199 A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. SNOMEDCT_US:28689008 SNOMEDCT_US:428255004 UMLS:C0041349 Interstitial nephritis Nephritis, Tubulointerstitial human_phenotype HP:0001970 Tubulointerstitial nephritis HP:0001970 A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. https://orcid.org/0000-0002-0736-9199 A malfunctioning of the spleen in which it prematurely destroys red blood cells. SNOMEDCT_US:58381000 UMLS:C0020532 human_phenotype HP:0001971 The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). Hypersplenism HP:0001971 A malfunctioning of the spleen in which it prematurely destroys red blood cells. https://orcid.org/0000-0002-0736-9199 A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). SNOMEDCT_US:83414005 UMLS:C0002886 Macrocytic anaemia human_phenotype HP:0001972 The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. Macrocytic anemia HP:0001972 A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). PMID:19202968 https://orcid.org/0000-0002-0736-9199 Macrocytic anaemia The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. HP:0001936 HP:0004806 HP:0004829 SNOMEDCT_US:128091003 SNOMEDCT_US:13172003 SNOMEDCT_US:234490009 SNOMEDCT_US:32273002 UMLS:C0242584 UMLS:C0398650 UMLS:C0920163 Idiopathic thrombocytopenia Immune thrombocytopenia human_phenotype Idiopathic thrombocytopenic purpura HP:0001973 Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. Autoimmune thrombocytopenia HP:0001973 The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. https://orcid.org/0000-0002-7744-1790 An abnormal increase in the number of leukocytes in the blood. SNOMEDCT_US:111583006 UMLS:C0023518 Elevated white blood count High white blood count Increased blood leukocyte number Leukocytosis human_phenotype HP:0001974 Increased total leukocyte count HP:0001974 An abnormal increase in the number of leukocytes in the blood. https://orcid.org/0000-0002-0736-9199 Elevated white blood count High white blood count Increased blood leukocyte number https://orcid.org/0000-0001-5208-3432 Decreased cell membrane concentration of glycoprotein IIb-IIIa. SNOMEDCT_US:32942005 UMLS:C0040015 UMLS:C4021767 Reduced level of platelet glycoprotein IIb/IIIa complex human_phenotype Glanzmann thrombasthenia HP:0001975 The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. Decreased platelet glycoprotein IIb-IIIa HP:0001975 Decreased cell membrane concentration of glycoprotein IIb-IIIa. https://orcid.org/0000-0002-7744-1790 An abnormality of coagulation related to a decreased concentration of antithrombin-III. SNOMEDCT_US:36351005 UMLS:C0272375 Anti-thrombin III deficiency Antithrombin III deficiency Decreased antithrombin III human_phenotype HP:0001976 Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway. Reduced antithrombin III activity HP:0001976 An abnormality of coagulation related to a decreased concentration of antithrombin-III. https://orcid.org/0000-0002-0736-9199 Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). UMLS:C4025731 Abnormal blood clot Abnormal blood clotting human_phenotype HP:0001977 Abnormal thrombosis HP:0001977 Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). https://orcid.org/0000-0002-0736-9199 Abnormal blood clot https://orcid.org/0000-0001-6908-9849 The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. HP:0004847 SNOMEDCT_US:124958002 SNOMEDCT_US:42952007 UMLS:C1292120 UMLS:C2613439 human_phenotype Extramedullary erythropoiesis HP:0001978 During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. Some pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. The most common causes of Extramedullary hematopoieses (EMH) are myelofibrosis, diffuse osseous metastatic disease replacing the bone marrow, leukemia, sickle-cell anemia, and thalassemia. EMH is usually microscopic and asymptomatic, but it can sometimes manifest as organomegaly and tumor-like masses. Rarely, it can cause cord compression, pleural effusion, massive hemothorax, and respiratory failure. Extramedullary hematopoiesis HP:0001978 The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. PMID:27377325 PMID:28101170 https://orcid.org/0000-0002-0736-9199 true HP:0001979 Abnormal increased number of megaloblasts in the bone marrow. SNOMEDCT_US:167921008 UMLS:C0238801 human_phenotype HP:0001980 A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. Megaloblastic bone marrow HP:0001980 Abnormal increased number of megaloblasts in the bone marrow. https://orcid.org/0000-0002-0736-9199 The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. SNOMEDCT_US:385472000 UMLS:C0344386 Schistocytes human_phenotype HP:0001981 Schistocytosis HP:0001981 The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. https://orcid.org/0000-0002-0736-9199 An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. SNOMEDCT_US:37821003 UMLS:C0036489 Sea-blue histiocyte human_phenotype HP:0001982 Sea-blue histiocytosis HP:0001982 An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. PMID:8797061 https://orcid.org/0000-0002-0736-9199 A reduction in the expression of CD43 on the cell surface of lymphocytes. UMLS:C4021766 Cd43 defectively expressed on surface of blood cells Reduced lymphocyte surface expression of sialophorin human_phenotype HP:0001983 CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. Reduced lymphocyte surface expression of CD43 HP:0001983 A reduction in the expression of CD43 on the cell surface of lymphocytes. https://orcid.org/0000-0002-0736-9199 UMLS:C1396243 human_phenotype HP:0001984 Intolerance to protein HP:0001984 A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. HP:0005969 UMLS:C1856438 Hypoglycemia, hypoketotic human_phenotype HP:0001985 Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. Hypoketotic hypoglycemia HP:0001985 A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. https://orcid.org/0000-0002-0736-9199 UMLS:C1112601 Hyperosmolar dehydration human_phenotype HP:0001986 Hypertonic dehydration HP:0001986 An increased concentration of ammonia in the blood. HP:0008308 HP:0008334 SNOMEDCT_US:9360008 UMLS:C0220994 High blood ammonia levels human_phenotype HP:0001987 Hyperammonemia HP:0001987 An increased concentration of ammonia in the blood. HPO_CONTRIBUTOR:gcarletti High blood ammonia levels https://orcid.org/0000-0001-5208-3432 Recurrent episodes of decreased concentration of glucose in the blood. UMLS:C1846288 Hypoglycemic episodes Recurrent hypoglycaemia Recurrent hypoglycemic episodes Recurrent low blood sugar levels hypoglycaemia, recurrent hypoglycemia, recurrent human_phenotype HP:0001988 Recurrent hypoglycemia HP:0001988 Recurrent episodes of decreased concentration of glucose in the blood. HPO_CONTRIBUTOR:gcarletti Recurrent low blood sugar levels https://orcid.org/0000-0001-5208-3432 hypoglycaemia, recurrent https://orcid.org/0000-0002-5316-1399 hypoglycemia, recurrent https://orcid.org/0000-0002-5316-1399 Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). SNOMEDCT_US:401138005 UMLS:C1276035 UMLS:C3151520 Foetal akinesia sequence human_phenotype Early severe fetal akinesia sequence Early severe foetal akinesia sequence Fetal akinesia Foetal akinesia HP:0001989 Fetal akinesia sequence HP:0001989 Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). https://orcid.org/0000-0002-0736-9199 Foetal akinesia sequence Early severe fetal akinesia sequence https://orcid.org/0000-0002-5316-1399 Early severe foetal akinesia sequence Fetal akinesia https://orcid.org/0000-0002-5316-1399 Foetal akinesia true HP:0001990 Absence or hypoplasia of toes. UMLS:C3551148 Absent/small toe Absent/underdeveloped toe Aplastic/hypoplastic toe phalanges human_phenotype Absent/hypoplastic toes HP:0001991 Aplasia/Hypoplasia of toe HP:0001991 Absence or hypoplasia of toes. https://orcid.org/0000-0002-0736-9199 Absent/small toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped toe https://orcid.org/0000-0001-5208-3432 Absent/hypoplastic toes https://orcid.org/0000-0002-5316-1399 Excretion of non-amino organic acids in urine. UMLS:C0241775 human_phenotype HP:0001992 Organic aciduria HP:0001992 Excretion of non-amino organic acids in urine. https://orcid.org/0000-0002-0736-9199 Acidosis resulting from accumulation of ketone bodies. SNOMEDCT_US:56051008 UMLS:C0220982 human_phenotype HP:0001993 Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. Ketoacidosis HP:0001993 Acidosis resulting from accumulation of ketone bodies. https://orcid.org/0000-0002-0736-9199 An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. SNOMEDCT_US:236468006 SNOMEDCT_US:44673006 UMLS:C0341703 De toni-fanconi-debre syndrome Renal tubular fanconi syndrome human_phenotype HP:0001994 Renal Fanconi syndrome HP:0001994 An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. https://orcid.org/0000-0002-0736-9199 Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. SNOMEDCT_US:18104000 UMLS:C0085569 human_phenotype HP:0001995 Hyperchloremic acidosis HP:0001995 Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. PMID:29493965 Longstanding metabolic acidosis. UMLS:C0740749 human_phenotype HP:0001996 Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. Chronic metabolic acidosis HP:0001996 Longstanding metabolic acidosis. PMID:15882309 https://orcid.org/0000-0002-0736-9199 Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. HP:0001368 SNOMEDCT_US:170733007 SNOMEDCT_US:190828008 SNOMEDCT_US:48440001 SNOMEDCT_US:90560007 UMLS:C0003868 UMLS:C0018099 Gouty arthritis human_phenotype HP:0001997 Gout HP:0001997 Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. https://orcid.org/0009-0006-4530-3154 SNOMEDCT_US:52767006 UMLS:C0158986 Low blood sugar in newborn human_phenotype HP:0001998 Neonatal hypoglycemia HP:0001998 Low blood sugar in newborn https://orcid.org/0000-0001-6908-9849 An abnormal morphology (form) of the face or its components. HP:0002004 HP:0002260 HP:0004643 HP:0004649 HP:0004652 HP:0004655 HP:0004675 HP:0005124 Deformity of face Malformation of face SNOMEDCT_US:248200007 SNOMEDCT_US:32003007 SNOMEDCT_US:398206004 SNOMEDCT_US:398302004 UMLS:C0266617 UMLS:C0424503 UMLS:C1385263 UMLS:C4072832 UMLS:C4072833 Abnormal facial shape Abnormal morphology of the face Distinctive facies Dysmorphic facial features Dysmorphic facies Facial dysmorphism Unusual facial appearance Unusual facies human_phenotype Distortion of face Funny looking face HP:0001999 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. Abnormal facial shape HP:0001999 An abnormal morphology (form) of the face or its components. https://orcid.org/0000-0002-9602-2321 Deformity of face https://orcid.org/0000-0001-5889-4463 Malformation of face https://orcid.org/0000-0001-5889-4463 Abnormal facial shape Abnormal morphology of the face https://orcid.org/0000-0001-5889-4463 Dysmorphic facies https://orcid.org/0000-0001-5889-4463 Facial dysmorphism https://orcid.org/0000-0001-5889-4463 Unusual facial appearance https://orcid.org/0000-0001-5889-4463 Distortion of face https://orcid.org/0000-0001-5889-4463 Funny looking face https://orcid.org/0000-0001-5889-4463 Reduced distance from the anterior border of the naris to the subnasale. UMLS:C1857479 UMLS:C4280585 Columella, short Decreased length of columella human_phenotype Hypoplasia of columella HP:0002000 This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. Short columella HP:0002000 Reduced distance from the anterior border of the naris to the subnasale. PMID:19152422 Decreased length of columella https://orcid.org/0000-0001-5889-4463 Hypoplasia of columella https://orcid.org/0000-0001-5889-4463 true HP:0002001 Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. HP:0000305 HP:0004654 UMLS:C1839797 UMLS:C4020861 Increased depth of philtrum Philtrum, deep Prominent philtrum Pronounced philtrum human_phenotype Depressed philtrum HP:0002002 Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. Deep philtrum HP:0002002 Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. PMID:19152422 Increased depth of philtrum https://orcid.org/0000-0001-5889-4463 Pronounced philtrum https://orcid.org/0000-0001-5889-4463 UMLS:C1839783 UMLS:C4280583 UMLS:C4280584 Increased size of forehead Increased size of frontal region of face Large forehead Hyperplasia of forehead Hypertrophy of forehead human_phenotype HP:0002003 Large forehead HP:0002003 Increased size of forehead https://orcid.org/0000-0001-5889-4463 Increased size of frontal region of face https://orcid.org/0000-0001-5889-4463 Large forehead Hyperplasia of forehead https://orcid.org/0000-0001-5889-4463 Hypertrophy of forehead https://orcid.org/0000-0001-5889-4463 true HP:0002004 true HP:0002005 A congenital malformation with a cleft (gap or opening) in the face. SNOMEDCT_US:92821006 UMLS:C0685787 Cleft of the face Facial cleft Tessier facial cleft human_phenotype Facial clefts HP:0002006 The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations. Tessier cleft HP:0002006 A congenital malformation with a cleft (gap or opening) in the face. https://orcid.org/0000-0002-0736-9199 Cleft of the face https://orcid.org/0000-0001-5889-4463 Facial cleft Tessier facial cleft https://orcid.org/0000-0001-5889-4463 Facial clefts https://orcid.org/0000-0002-5316-1399 Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. HP:0000254 HP:0000333 HP:0001358 HP:0001359 SNOMEDCT_US:90145001 UMLS:C0221354 Frontal protuberance Skull bossing human_phenotype HP:0002007 This is not the same as prominent forehead. Frontal bossing HP:0002007 Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. PMID:19125436 Frontal protuberance https://orcid.org/0000-0001-5889-4463 Skull bossing https://orcid.org/0000-0001-5889-4463 true HP:0002008 A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. SNOMEDCT_US:24814002 UMLS:C0266619 human_phenotype HP:0002009 Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. Potter facies HP:0002009 A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. https://orcid.org/0000-0002-0736-9199 UMLS:C1851835 Decreased breadth of upper jaw bones Decreased transverse dimension of maxilla Decreased width of maxilla Decreased width of upper jaw bones Narrow upper jaw bones Transverse hypoplasia of maxilla Transverse maxillary deficiency Transverse maxillary insufficiency human_phenotype HP:0002010 Narrow maxilla HP:0002010 Decreased breadth of upper jaw bones https://orcid.org/0000-0001-5889-4463 Decreased transverse dimension of maxilla https://orcid.org/0000-0001-5889-4463 Decreased width of maxilla https://orcid.org/0000-0001-5889-4463 Decreased width of upper jaw bones https://orcid.org/0000-0001-5889-4463 Narrow upper jaw bones https://orcid.org/0000-0001-5889-4463 Transverse hypoplasia of maxilla https://orcid.org/0000-0001-5889-4463 Transverse maxillary deficiency https://orcid.org/0000-0001-5889-4463 Transverse maxillary insufficiency https://orcid.org/0000-0001-5889-4463 A structural abnormality of the central nervous system. HP:0002405 HP:0002413 HP:0002481 HP:0007319 SNOMEDCT_US:23853001 UMLS:C0007682 UMLS:C4021765 Abnormality of the central nervous system Morphological abnormality of the CNS Morphological abnormality of the central nervous system human_phenotype Central nervous system disease HP:0002011 Morphological central nervous system abnormality HP:0002011 A structural abnormality of the central nervous system. https://orcid.org/0000-0002-0736-9199 Morphological abnormality of the CNS An abnormality of the viscera of the abdomen. UMLS:C4021764 Abnormality of the abdominal organs Gastrointestinal tract defects human_phenotype HP:0002012 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. Abnormality of the abdominal organs HP:0002012 An abnormality of the viscera of the abdomen. https://orcid.org/0000-0002-0736-9199 Abnormality of the abdominal organs Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. MEDDRA:10047700 SNOMEDCT_US:249497008 SNOMEDCT_US:300359004 SNOMEDCT_US:422400008 UMLS:C0042963 Emesis Throwing up Vomiting human_phenotype HP:0002013 Vomiting HP:0002013 Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. https://orcid.org/0000-0002-0736-9199 MEDDRA:10047700 Vomiting Throwing up Vomiting Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. SNOMEDCT_US:267060006 SNOMEDCT_US:62315008 UMLS:C0011991 Diarrhea Diarrhoea Watery stool human_phenotype HP:0002014 Diarrhea HP:0002014 Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. https://orcid.org/0000-0002-0736-9199 Diarrhea Diarrhoea Watery stool Difficulty in swallowing. HP:0002569 MEDDRA:10013950 SNOMEDCT_US:288939007 SNOMEDCT_US:40739000 UMLS:C0011168 Difficulty swallowing Poor swallowing Swallowing difficulties Swallowing difficulty human_phenotype Deglutition disorder HP:0002015 Dysphagia HP:0002015 Difficulty in swallowing. https://orcid.org/0000-0002-0736-9199 MEDDRA:10013950 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty true HP:0002016 Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. SNOMEDCT_US:16932000 UMLS:C0027498 Nausea and vomiting human_phenotype HP:0002017 Nausea and vomiting HP:0002017 Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. PMID:26770271 Nausea and vomiting A sensation of unease in the stomach together with an urge to vomit. MEDDRA:10028813 SNOMEDCT_US:422587007 UMLS:C0027497 Nausea human_phenotype HP:0002018 Nausea HP:0002018 A sensation of unease in the stomach together with an urge to vomit. PMID:26770271 https://orcid.org/0000-0002-0736-9199 MEDDRA:10028813 Nausea Nausea Infrequent or difficult evacuation of feces. HP:0002241 HP:0003786 SNOMEDCT_US:14760008 SNOMEDCT_US:225595004 UMLS:C0009806 UMLS:C0237326 Constipation Costiveness Dyschezia human_phenotype HP:0002019 Constipation HP:0002019 Infrequent or difficult evacuation of feces. https://orcid.org/0000-0002-0736-9199 Constipation A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. HP:0004793 SNOMEDCT_US:16331000 SNOMEDCT_US:235595009 SNOMEDCT_US:698065002 UMLS:C0017168 UMLS:C0018834 Acid reflux Acid reflux disease GERD GORD Gastro-esophageal reflux Gastro-oesophageal reflux Gastroesophageal reflux disease Heartburn human_phenotype HP:0002020 Gastroesophageal reflux HP:0002020 A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. https://orcid.org/0000-0002-0736-9199 Acid reflux Acid reflux disease GERD https://orcid.org/0000-0002-5316-1399 GORD Gastro-oesophageal reflux Heartburn https://orcid.org/0000-0001-5208-3432 Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Fyler:4444 MEDDRA:10037621 SNOMEDCT_US:367403001 UMLS:C0034194 Infantile hypertrophic pyloric stenosis Pylorus stenosis human_phenotype HP:0002021 Pyloric stenosis occurs in the first few months of life. Pyloric stenosis HP:0002021 Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. PMID:32310391 https://orcid.org/0000-0002-0736-9199 MEDDRA:10037621 Pyloric stenosis true HP:0002022 Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. HP:0001550 Fyler:4402 Fyler:4443 MEDDRA:10002120 SNOMEDCT_US:204712000 SNOMEDCT_US:204731006 UMLS:C0003466 Absent anus human_phenotype Imperforate anus HP:0002023 Anal atresia HP:0002023 Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. https://orcid.org/0000-0002-0736-9199 MEDDRA:10002120 Anal atresia Absent anus https://orcid.org/0000-0002-6548-5200 Impaired ability to absorb one or more nutrients from the intestine. HP:0008270 UMLS:C3714745 Intestinal malabsorption Malabsorption human_phenotype HP:0002024 Malabsorption HP:0002024 Impaired ability to absorb one or more nutrients from the intestine. https://orcid.org/0000-0002-0736-9199 Intestinal malabsorption Malabsorption Abnormal narrowing of the anal opening. MEDDRA:10002176 SNOMEDCT_US:250037002 SNOMEDCT_US:69914001 UMLS:C0262374 Narrowing of anal opening human_phenotype HP:0002025 Anal stenosis HP:0002025 Abnormal narrowing of the anal opening. https://orcid.org/0000-0002-0736-9199 MEDDRA:10002176 Anal stenosis Narrowing of anal opening https://orcid.org/0000-0001-5208-3432 true HP:0002026 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Gastro pain Gastrointestinal pain MEDDRA:10000081 SNOMEDCT_US:21522001 UMLS:C0000737 Abdominal pain Pain in stomach Stomach pain human_phenotype Abdominal discomfort Upset stomach HP:0002027 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. Abdominal pain HP:0002027 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. https://orcid.org/0000-0002-0736-9199 Gastro pain Gastrointestinal pain MEDDRA:10000081 Abdominal pain Abdominal pain Pain in stomach Stomach pain https://orcid.org/0000-0002-0736-9199 Abdominal discomfort Upset stomach https://orcid.org/0000-0001-6439-2224 The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. SNOMEDCT_US:236071009 UMLS:C0401151 Chronic diarrhea Chronic diarrhoea human_phenotype Diarrhea, recurrent Recurrent diarrhea Recurrent diarrhoea HP:0002028 Chronic diarrhea HP:0002028 The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. https://orcid.org/0000-0002-0736-9199 Chronic diarrhea Chronic diarrhoea Diarrhea, recurrent https://orcid.org/0000-0002-5316-1399 Recurrent diarrhea https://orcid.org/0000-0002-5316-1399 Recurrent diarrhoea true HP:0002029 true HP:0002030 A structural abnormality of the esophagus. SNOMEDCT_US:69771008 UMLS:C0266126 Abnormal oesophagus morphology Abnormality of esophagus structure Abnormality of oesophagus structure Anomaly of the esophagus Anomaly of the oesophagus human_phenotype HP:0002031 Abnormal esophagus morphology HP:0002031 A structural abnormality of the esophagus. https://orcid.org/0000-0002-0736-9199 Abnormal oesophagus morphology Abnormality of esophagus structure Abnormality of oesophagus structure Anomaly of the oesophagus A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Fyler:4412 SNOMEDCT_US:26179002 UMLS:C0014850 Birth defect in which part of esophagus did not develop Birth defect in which part of oesophagus did not develop human_phenotype HP:0002032 Esophageal atresia HP:0002032 A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. https://orcid.org/0000-0002-0736-9199 Birth defect in which part of esophagus did not develop https://orcid.org/0000-0002-6548-5200 Birth defect in which part of oesophagus did not develop An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. UMLS:C1837142 Poor suck Poor sucking Sucking weakness human_phenotype HP:0002033 Poor suck HP:0002033 An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. https://orcid.org/0000-0002-0736-9199 Poor suck Poor sucking https://orcid.org/0000-0002-5316-1399 An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. SNOMEDCT_US:86993003 UMLS:C0266210 Abnormality of the rectum Anomaly of the rectum human_phenotype HP:0002034 Abnormal rectum morphology HP:0002034 An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. https://orcid.org/0000-0002-0736-9199 Abnormality of the rectum Anomaly of the rectum Protrusion of the rectal mucous membrane through the anus. MEDDRA:10038077 SNOMEDCT_US:57773001 UMLS:C0034888 Rectum protrudes through anus human_phenotype Rectal prolapsed HP:0002035 Rectal prolapse HP:0002035 Protrusion of the rectal mucous membrane through the anus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10038077 Rectal prolapse Rectum protrudes through anus https://orcid.org/0000-0002-6548-5200 Rectal prolapsed https://orcid.org/0000-0002-5316-1399 The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. 2008-02-20T11:28:00Z MEDDRA:10020028 SNOMEDCT_US:84089009 UMLS:C3489393 Hiatal hernia Stomach hernia human_phenotype HP:0002036 A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). Hiatus hernia HP:0002036 The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10020028 Hiatus hernia Stomach hernia https://orcid.org/0000-0001-5208-3432 Inflammation, or an inflammatory state in the large intestine. SNOMEDCT_US:24526004 SNOMEDCT_US:302168000 UMLS:C0021390 UMLS:C0578878 Inflammation of the large intestine human_phenotype Inflammatory bowel disease HP:0002037 Inflammation of the large intestine HP:0002037 Inflammation of the large intestine Inflammatory bowel disease UMLS:C1839531 human_phenotype HP:0002038 Protein avoidance HP:0002038 Lack of desire to eat (loss of appetite). SNOMEDCT_US:79890006 UMLS:C0003123 Anorexia Deliberately not eating Obsessive dieting Refusing to eat human_phenotype HP:0002039 Please note that this term does not refer to the condition of anorexia nervosa, which is a disorder characterized by an obsessive desire to lose weight by refusing to eat. The term is considered more severe than "Poor appetite". Anorexia HP:0002039 Anorexia Extreme dilation of the submucusoal veins in the lower portion of the esophagus. MEDDRA:10056091 SNOMEDCT_US:28670008 UMLS:C0014867 Enlarged vein in esophagus Enlarged vein in oesophagus human_phenotype Esophageal varices HP:0002040 Esophageal varices are most often a consequence of portal hypertension. Esophageal varix HP:0002040 Extreme dilation of the submucusoal veins in the lower portion of the esophagus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10056091 Varices oesophageal Enlarged vein in esophagus https://orcid.org/0000-0002-6548-5200 Enlarged vein in oesophagus UMLS:C0743178 Intractable diarrhoea human_phenotype HP:0002041 Intractable diarrhea HP:0002041 Intractable diarrhoea true HP:0002042 A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. SNOMEDCT_US:63305008 UMLS:C0014866 Narrowing of esophagus due to inflammation and scar tissue Narrowing of oesophagus due to inflammation and scar tissue human_phenotype HP:0002043 Gastroesophageal reflux is a common cause of esophageal stricture. Esophageal stricture HP:0002043 A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. https://orcid.org/0000-0002-0736-9199 Narrowing of esophagus due to inflammation and scar tissue https://orcid.org/0000-0002-6548-5200 Narrowing of oesophagus due to inflammation and scar tissue A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. MEDDRA:10048281 SNOMEDCT_US:53132006 UMLS:C0043515 human_phenotype HP:0002044 Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. Zollinger-Ellison syndrome HP:0002044 A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. https://orcid.org/0000-0002-0736-9199 MEDDRA:10048281 Zollinger-Ellison syndrome Reduced body temperature due to failed thermoregulation. SNOMEDCT_US:386689009 UMLS:C0020672 Abnormally low body temperature Hypothermia human_phenotype HP:0002045 A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F). Hypothermia HP:0002045 Reduced body temperature due to failed thermoregulation. https://orcid.org/0009-0006-4530-3154 Abnormally low body temperature https://orcid.org/0000-0001-5208-3432 Hypothermia The inability to maintain a comfortable body temperature in warm or hot weather. SNOMEDCT_US:69215007 UMLS:C0231274 Heat intolerance Intolerance to heat and fevers human_phenotype HP:0002046 Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. Heat intolerance HP:0002046 The inability to maintain a comfortable body temperature in warm or hot weather. https://orcid.org/0000-0002-0736-9199 Heat intolerance Intolerance to heat and fevers Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. HP:0004896 SNOMEDCT_US:213026003 SNOMEDCT_US:405501007 UMLS:C0024591 human_phenotype HP:0002047 Malignant hyperthermia HP:0002047 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. https://orcid.org/0000-0002-0736-9199 Atrophy of the cortex of the kidney. UMLS:C4025730 human_phenotype HP:0002048 Renal cortical atrophy HP:0002048 Atrophy of the cortex of the kidney. https://orcid.org/0000-0002-0736-9199 A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. SNOMEDCT_US:24790002 UMLS:C0268435 Proximal tubular acidosis Renal tubular acidosis, proximal Renal tubular acidosis, type II human_phenotype HP:0002049 Proximal renal tubular acidosis HP:0002049 A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. https://orcid.org/0000-0002-0736-9199 UMLS:C1839782 human_phenotype HP:0002050 Macroorchidism, postpubertal HP:0002050 true HP:0002051 true HP:0002052 true HP:0002053 UMLS:C1845107 Heavy brow of the face Heavy supraorbital ridge human_phenotype HP:0002054 Heavy supraorbital ridges HP:0002054 Heavy brow of the face https://orcid.org/0000-0001-5889-4463 Heavy supraorbital ridge https://orcid.org/0000-0001-5889-4463 UMLS:C1844572 human_phenotype HP:0002055 Curved linear dimple below the lower lip HP:0002055 An abnormality of the glabella. UMLS:C4021763 Abnormality of the area between the eyebrows Glabellar abnormality Deformity of the area between the eyebrows Malformation of the area between the eyebrows human_phenotype HP:0002056 Abnormality of the glabella HP:0002056 An abnormality of the glabella. https://orcid.org/0000-0002-0736-9199 Abnormality of the area between the eyebrows https://orcid.org/0000-0001-5889-4463 Deformity of the area between the eyebrows https://orcid.org/0000-0001-5889-4463 Malformation of the area between the eyebrows https://orcid.org/0000-0001-5889-4463 Forward protrusion of the glabella. UMLS:C1860247 Convex glabella Hyperplasia of glabella Prominent area between the eyebrows Protruding area between the eyebrows human_phenotype HP:0002057 The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. Prominent glabella HP:0002057 Forward protrusion of the glabella. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Convex glabella https://orcid.org/0000-0001-5889-4463 Hyperplasia of glabella https://orcid.org/0000-0001-5889-4463 Prominent area between the eyebrows https://orcid.org/0000-0001-5889-4463 Protruding area between the eyebrows https://orcid.org/0000-0001-5889-4463 A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. HP:0004647 SNOMEDCT_US:26432009 UMLS:C0332615 Myopathic face Myopathic facial appearance human_phenotype HP:0002058 Myopathic facies HP:0002058 A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. https://orcid.org/0000-0002-0736-9199 Myopathic facial appearance https://orcid.org/0000-0001-5889-4463 Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. HP:0002422 HP:0006890 SNOMEDCT_US:278849000 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 UMLS:C0235946 UMLS:C4020860 Degeneration of cerebrum human_phenotype Supratentorial atrophy HP:0002059 Atrophy may be progressive over time. Cerebral atrophy HP:0002059 Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. https://orcid.org/0009-0006-4530-3154 Degeneration of cerebrum https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the telencephalon, which is also known as the cerebrum. UMLS:C4021762 Abnormality of the cerebrum Abnormality of the telencephalon Cerebral lesion human_phenotype HP:0002060 Abnormal cerebral morphology HP:0002060 Any structural abnormality of the telencephalon, which is also known as the cerebrum. https://orcid.org/0000-0002-0736-9199 Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. SNOMEDCT_US:394679006 UMLS:C1271100 Lower extremities spasticity Lower extremity spasticity Spastic lower extremities Spastic lower extremity Spastic lower limb Spastic lower limbs Spasticity in lower extremities Spasticity in lower extremity Spasticity in lower limb Spasticity in lower limbs Spasticity of lower extremities Spasticity of lower extremity Spasticity of lower limb Spasticity of lower limbs human_phenotype HP:0002061 Lower limb spasticity HP:0002061 Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. HPO_CONTRIBUTOR:UKT_rschuele https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. HP:0012445 UMLS:C4020859 UMLS:C4021761 Abnormality of the pyramidal tracts Morphological abnormality of the pyramidal tract human_phenotype Pyramidal tract disease HP:0002062 The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. Abnormal pyramidal tract morphology HP:0002062 Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. https://orcid.org/0000-0002-0736-9199 Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. SNOMEDCT_US:16046003 UMLS:C0026837 Muscle rigidity Rigidity human_phenotype HP:0002063 Rigidity is often a manifestation of basal ganglia diseases. Rigidity HP:0002063 Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. https://orcid.org/0000-0002-0736-9199 Muscle rigidity Rigidity Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. SNOMEDCT_US:9447003 UMLS:C0231687 Spastic walk human_phenotype HP:0002064 Spastic gait HP:0002064 Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. PMID:25649546 Spastic walk https://orcid.org/0000-0001-5208-3432 true HP:0002065 A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. HP:0002379 SNOMEDCT_US:25136009 UMLS:C0751837 Ataxia of gait Ataxic gait Inability to coordinate movements when walking human_phenotype HP:0002066 Gait ataxia HP:0002066 A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. HPO_CONTRIBUTOR:UKT_rschuele https://orcid.org/0000-0002-0736-9199 Inability to coordinate movements when walking https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). SNOMEDCT_US:399317006 UMLS:C0233565 Slow movements Slowness of movements human_phenotype HP:0002067 Bradykinesia HP:0002067 Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). https://orcid.org/0000-0002-0736-9199 Slow movements https://orcid.org/0000-0001-5208-3432 Slowness of movements UMLS:C4025729 human_phenotype HP:0002068 Neuromuscular dysphagia HP:0002068 A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. HP:0001306 HP:0002407 HP:0007252 SNOMEDCT_US:54200006 UMLS:C0494475 Bilateral convulsive seizures Generalised convulsion Generalised tonic-clonic seizure (without specification of onset) Generalized convulsion Generalized tonic-clonic seizure (without specification of onset) Grand mal Grand mal seizures Seizures, tonic-clonic Tonic-clonic convulsion Tonic-clonic convulsions human_phenotype HP:0002069 A tonic-clonic seizure may be generalized from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. Bilateral tonic-clonic seizure HP:0002069 A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. PMID:28276060 https://orcid.org/0000-0002-0736-9199 Generalised convulsion Grand mal seizures Tonic-clonic convulsion https://orcid.org/0000-0002-5316-1399 Tonic-clonic convulsions https://orcid.org/0000-0002-5316-1399 A kind of ataxia that affects movements of the extremities. UMLS:C0750937 Appendicular ataxia human_phenotype HP:0002070 Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. Limb ataxia HP:0002070 A kind of ataxia that affects movements of the extremities. https://orcid.org/0000-0002-0736-9199 A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). HP:0006810 HP:0007113 SNOMEDCT_US:43378000 SNOMEDCT_US:76349003 UMLS:C0015371 UMLS:C0234133 Extrapyramidal dysfunction Extrapyramidal signs Extrapyramidal symptoms Extrapyramidal syndrome Extrapyramidal tract signs human_phenotype HP:0002071 The basal ganglia, paired subcortical masses of gray matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. Abnormality of extrapyramidal motor function HP:0002071 A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). https://orcid.org/0000-0002-0736-9199 Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. HP:0002397 SNOMEDCT_US:271700006 UMLS:C0008489 UMLS:C4020858 Choreic movements Choreiform movements human_phenotype Choreatic disease HP:0002072 Chorea HP:0002072 Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. PMID:20589866 https://orcid.org/0000-0002-0736-9199 HP:0001329 HP:0002496 HP:0007331 SNOMEDCT_US:230233000 UMLS:C0393525 Cerebellar ataxia, progressive Progressive ataxia human_phenotype HP:0002073 Progressive cerebellar ataxia HP:0002073 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. UMLS:C4020857 UMLS:C4025728 human_phenotype Neuronal lipopigments HP:0002074 Increased neuronal autofluorescent lipopigment HP:0002074 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. PMID:11406682 https://orcid.org/0000-0002-0736-9199 A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. HP:0002426 SNOMEDCT_US:23133003 UMLS:C0234979 Difficulty performing quick and alternating movements Dysdiadochokinesia human_phenotype HP:0002075 Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. Dysdiadochokinesis HP:0002075 A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. HPO_CONTRIBUTOR:UKB_tklockgether HPO_CONTRIBUTOR:zaferyueksel https://orcid.org/0000-0002-0736-9199 Difficulty performing quick and alternating movements https://orcid.org/0000-0002-6548-5200 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. HP:0007194 SNOMEDCT_US:37796009 UMLS:C0149931 UMLS:C0744641 Intermittent migraine headaches Migraine Migraine headache Migraine headaches human_phenotype HP:0002076 Migraine HP:0002076 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. PMID:15304572 https://orcid.org/0000-0002-0736-9199 Intermittent migraine headaches Migraine Migraine headache Migraine headaches A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. SNOMEDCT_US:4473006 UMLS:C0154723 human_phenotype HP:0002077 Migraine with aura HP:0002077 A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. PMID:15304572 https://orcid.org/0000-0002-0736-9199 Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. HP:0007014 SNOMEDCT_US:250067008 UMLS:C0427190 Instability or lack of coordination of central trunk muscles Trunk ataxia human_phenotype HP:0002078 Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. Truncal ataxia HP:0002078 Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. HPO_CONTRIBUTOR:UKT_rschuele https://orcid.org/0000-0002-0736-9199 Instability or lack of coordination of central trunk muscles https://orcid.org/0000-0002-6548-5200 Underdevelopment of the corpus callosum. HP:0002319 HP:0007026 SNOMEDCT_US:204043002 UMLS:C0344482 Corpus callosum hypoplasia Hypoplasia of corpus callosum Hypoplastic corpus callosum Underdevelopment of part of brain called corpus callosum human_phenotype HP:0002079 The corpus callosum appears thin in midline views of the brain in neuroradiological images. Hypoplasia of the corpus callosum HP:0002079 Underdevelopment of the corpus callosum. PMID:21263138 https://orcid.org/0000-0002-0736-9199 Underdevelopment of part of brain called corpus callosum https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). SNOMEDCT_US:30721006 UMLS:C0234376 UMLS:C4020856 human_phenotype Cerebellar tremor Terminal tremor HP:0002080 Intention tremor HP:0002080 A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). PMID:16344298 https://orcid.org/0000-0002-0736-9199 true HP:0002081 true HP:0002082 Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. SNOMEDCT_US:56097005 UMLS:C0338480 human_phenotype HP:0002083 The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (PMID:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. Migraine without aura HP:0002083 Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. PMID:15304572 https://orcid.org/0000-0002-0736-9199 A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. HP:0002736 HP:0100664 SNOMEDCT_US:253101008 SNOMEDCT_US:48777005 SNOMEDCT_US:55999004 UMLS:C0014065 Bifid skull Cranium bifidum human_phenotype HP:0002084 A congenital gap in the skull that usually results in a protrusion of brain material. Encephalocele HP:0002084 A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. https://orcid.org/0000-0002-0736-9199 A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. HP:0007051 HP:0007357 SNOMEDCT_US:42376006 UMLS:C0014067 Brain tissue sticks out through back of skull Occipital meningoencephalocele Posterior encephalocele human_phenotype HP:0002085 Occipital encephalocele HP:0002085 A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-2972-5481 Brain tissue sticks out through back of skull https://orcid.org/0000-0002-6548-5200 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. UMLS:C4018871 Respiratory abnormality human_phenotype HP:0002086 Abnormality of the respiratory system HP:0002086 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. https://orcid.org/0000-0002-0736-9199 An abnormality of the upper respiratory tract. UMLS:C4025727 Abnormality of the upper respiratory tract Upper respiratory tract issues human_phenotype HP:0002087 Abnormality of the upper respiratory tract HP:0002087 An abnormality of the upper respiratory tract. https://orcid.org/0000-0002-0736-9199 Abnormality of the upper respiratory tract Upper respiratory tract issues Any structural anomaly of the lung. SNOMEDCT_US:19829001 UMLS:C0024115 UMLS:C4021760 Abnormality of lung structure Abnormality of the lungs Abnormally shaped lung Unusual lung shape human_phenotype Lung disease HP:0002088 Abnormal lung morphology HP:0002088 Any structural anomaly of the lung. https://orcid.org/0000-0002-0736-9199 Abnormality of lung structure Abnormality of the lungs Abnormally shaped lung Unusual lung shape Lung disease SNOMEDCT_US:80825009 UMLS:C0265783 Hypoplastic lung Hypoplastic lungs Lung hypoplasia Poorly developed lungs Small lung Underdeveloped lung human_phenotype HP:0002089 Pulmonary hypoplasia HP:0002089 Poorly developed lungs Small lung https://orcid.org/0000-0001-5208-3432 Underdeveloped lung https://orcid.org/0000-0001-5208-3432 Inflammation of any part of the lung parenchyma. SNOMEDCT_US:233604007 UMLS:C0032285 Pneumonia human_phenotype HP:0002090 Pneumonia HP:0002090 Inflammation of any part of the lung parenchyma. https://orcid.org/0000-0002-0736-9199 Pneumonia A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. HP:0002111 SNOMEDCT_US:36485005 UMLS:C0085581 UMLS:C3277226 Restrictive deficit on pulmonary function testing Restrictive deficit on pulmonary function tests Restrictive respiratory disease Restrictive respiratory insufficiency Restrictive respiratory syndrome Spirometric restriction Stiff lung or chest wall causing decreased lung volume human_phenotype Restrictive lung disease HP:0002091 The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity. Restrictive ventilatory defect HP:0002091 A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. PMID:28194273 https://orcid.org/0000-0003-4546-6667 Stiff lung or chest wall causing decreased lung volume https://orcid.org/0000-0002-6548-5200 Restrictive lung disease https://orcid.org/0000-0001-5208-3432 Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. HP:0006546 SNOMEDCT_US:11399002 SNOMEDCT_US:697898008 SNOMEDCT_US:70995007 UMLS:C0020542 UMLS:C2973725 UMLS:C3203102 Increased blood pressure in blood vessels of lungs Pulmonary artery hypertension human_phenotype Primary pulmonary hypertension HP:0002092 Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. Pulmonary arterial hypertension HP:0002092 Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. https://orcid.org/0000-0002-0736-9199 Increased blood pressure in blood vessels of lungs https://orcid.org/0000-0002-6548-5200 Primary pulmonary hypertension https://orcid.org/0000-0002-5316-1399 HP:0004893 HP:0005937 HP:0006542 SNOMEDCT_US:409623005 UMLS:C0035229 UMLS:C4020855 Respiratory impairment human_phenotype Respiratory function loss HP:0002093 Respiratory insufficiency HP:0002093 Respiratory impairment Respiratory function loss Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. SNOMEDCT_US:230145002 SNOMEDCT_US:267036007 UMLS:C0013404 Abnormal breathing Breathing difficulty Difficult to breathe Difficulty breathing Dyspnoea Shortness of breath Trouble breathing human_phenotype Panting HP:0002094 Dyspnea HP:0002094 Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. PMID:16914301 https://orcid.org/0000-0002-0736-9199 Breathing difficulty Difficult to breathe Difficulty breathing Dyspnoea Shortness of breath Trouble breathing Panting true HP:0002095 true HP:0002096 HP:0006534 SNOMEDCT_US:87433001 UMLS:C0034067 Pulmonary emphysema human_phenotype HP:0002097 Emphysema HP:0002097 Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. HP:0002880 SNOMEDCT_US:230145002 SNOMEDCT_US:267036007 SNOMEDCT_US:271825005 UMLS:C0013404 UMLS:C0476273 Breathing difficulties Labored breathing Laboured breathing human_phenotype HP:0002098 Respiratory distress HP:0002098 Breathing difficulties https://orcid.org/0000-0001-6908-9849 Labored breathing Laboured breathing Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. HP:0002112 SNOMEDCT_US:195967001 SNOMEDCT_US:991000119106 UMLS:C0004096 UMLS:C3714497 Asthma Bronchial asthma human_phenotype Reactive airway disease HP:0002099 Asthma HP:0002099 Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. https://orcid.org/0000-0002-0736-9199 Asthma Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. HP:0002106 SNOMEDCT_US:430969000 UMLS:C0747651 Recurrent pneumonia due to aspiration human_phenotype HP:0002100 Recurrent aspiration pneumonia HP:0002100 Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. https://orcid.org/0000-0002-0736-9199 A developmental defect in the formation of pulmonary lobes. HP:0006525 HP:0009753 SNOMEDCT_US:91842005 UMLS:C0685695 Abnormal pulmonary lobation Defective lung lobation Lung segmentation defects human_phenotype HP:0002101 Abnormal lung lobation HP:0002101 A developmental defect in the formation of pulmonary lobes. https://orcid.org/0000-0002-0736-9199 Inflammation of the pleura. SNOMEDCT_US:196075003 UMLS:C0032231 Inflammation of tissues lining lungs and chest Pleurisy human_phenotype HP:0002102 Pleuritis HP:0002102 Inflammation of the pleura. https://orcid.org/0009-0006-4530-3154 Inflammation of tissues lining lungs and chest https://orcid.org/0000-0002-6548-5200 Pleurisy https://orcid.org/0009-0006-4530-3154 An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. UMLS:C4025726 Abnormality of the pleura human_phenotype HP:0002103 Abnormal pleura morphology HP:0002103 An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. https://orcid.org/0000-0002-0736-9199 Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. HP:0005936 HP:0005958 SNOMEDCT_US:1023001 SNOMEDCT_US:248583008 UMLS:C0003578 Absence of spontaneous respiration Apneic episodes Apnoea human_phenotype HP:0002104 Apnea HP:0002104 Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. https://orcid.org/0000-0002-0736-9199 Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. SNOMEDCT_US:66857006 SNOMEDCT_US:6686005 UMLS:C0019079 Coughing up blood Haemoptysis human_phenotype Coughing up blood or blood-stained mucus HP:0002105 Hemoptysis HP:0002105 Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. https://orcid.org/0000-0002-0736-9199 Coughing up blood https://orcid.org/0000-0002-6548-5200 Haemoptysis Coughing up blood or blood-stained mucus true HP:0002106 Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. SNOMEDCT_US:36118008 UMLS:C0032326 Collapsed lung human_phenotype HP:0002107 Pneumothorax HP:0002107 Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. https://orcid.org/0000-0002-0736-9199 Collapsed lung https://orcid.org/0000-0001-5208-3432 Pneumothorax occurring without traumatic injury to the chest or lung. SNOMEDCT_US:80423007 UMLS:C0149781 Spontaneous collapsed lung human_phenotype HP:0002108 Spontaneous pneumothorax HP:0002108 Pneumothorax occurring without traumatic injury to the chest or lung. https://orcid.org/0000-0002-0736-9199 Spontaneous collapsed lung https://orcid.org/0000-0002-6548-5200 HP:0025426 human_phenotype HP:0002109 obsolete Abnormality of the bronchi true HP:0002109 Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. SNOMEDCT_US:12295008 UMLS:C0006267 Permanent enlargement of the airways of the lungs human_phenotype HP:0002110 Bronchiectasis HP:0002110 Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. https://orcid.org/0000-0002-0736-9199 Permanent enlargement of the airways of the lungs https://orcid.org/0000-0002-6548-5200 HP:0002091 human_phenotype HP:0002111 obsolete Restrictive deficit on pulmonary function testing true HP:0002111 true HP:0002112 UMLS:C0235896 Lung infiltrates Pulmonic infiltration human_phenotype HP:0002113 Pulmonary infiltrates HP:0002113 Lung infiltrates https://orcid.org/0000-0001-5208-3432 true HP:0002114 true HP:0002115 true HP:0002116 true HP:0002117 Any structural abnormality of the cerebral ventricles. UMLS:C4025724 Abnormality of the cerebral ventricles human_phenotype HP:0002118 Abnormal cerebral ventricle morphology HP:0002118 Any structural abnormality of the cerebral ventricles. https://orcid.org/0000-0002-0736-9199 An increase in size of the ventricular system of the brain. HP:0002447 HP:0005691 HP:0007071 UMLS:C3278923 Cerebral ventricular dilatation Dilated cerebral ventricle Dilated cerebral ventricles Dilated ventricles Enlarged cerebral ventricles Enlarged ventricles Enlarged ventricular system Large cerebral ventricles and cisternae Ventricular dilatation human_phenotype HP:0002119 Ventriculomegaly HP:0002119 An increase in size of the ventricular system of the brain. https://orcid.org/0000-0002-0736-9199 Atrophy of the cortex of the cerebrum. HP:0006823 HP:0006835 SNOMEDCT_US:278849000 UMLS:C0235946 Cerebral cortex atrophy Cortical atrophy Decrease in size of the outer layer of the brain due to loss of brain cells human_phenotype HP:0002120 Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. Cerebral cortical atrophy HP:0002120 Atrophy of the cortex of the cerebrum. https://orcid.org/0000-0002-0736-9199 Decrease in size of the outer layer of the brain due to loss of brain cells https://orcid.org/0000-0002-6548-5200 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. HP:0007143 HP:0011148 SNOMEDCT_US:230413002 SNOMEDCT_US:432241000124101 SNOMEDCT_US:50866000 SNOMEDCT_US:79631006 UMLS:C0014553 Absence seizure Absence seizures Brief seizures with staring spells Generalised non-motor (absence) seizure Generalised non-motor seizure Petit mal Petit mal seizure Petit mal seizures human_phenotype HP:0002121 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Generalized non-motor (absence) seizure HP:0002121 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. PMID:28276060 PMID:28276062 PMID:28276064 https://orcid.org/0000-0002-0736-9199 Absence seizures Brief seizures with staring spells https://orcid.org/0000-0002-6548-5200 Generalised non-motor (absence) seizure Generalised non-motor seizure Petit mal seizures true HP:0002122 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HP:0006869 HP:0006902 HP:0007075 HP:0007202 HP:0007284 HP:0007294 SNOMEDCT_US:192992007 SNOMEDCT_US:267581004 SNOMEDCT_US:37356005 UMLS:C0014550 UMLS:C0751778 UMLS:C4021759 Generalised epileptic myoclonus Generalised myoclonic seizure Generalised myoclonic seizures Generalized epileptic myoclonus Generalized myoclonic seizures Myoclonus seizures human_phenotype Myoclonic epilepsy, progressive HP:0002123 Generalized myoclonic seizure HP:0002123 A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 Generalised myoclonic seizures Generalized myoclonic seizures true HP:0002124 true HP:0002125 Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). SNOMEDCT_US:4945003 UMLS:C0266464 More grooves in brain human_phenotype HP:0002126 Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. Polymicrogyria HP:0002126 Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). PMID:24888723 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 More grooves in brain https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Any structural anomaly that affects the upper motor neuron. UMLS:C4025723 Abnormal shape of upper motor neuron human_phenotype HP:0002127 previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) Abnormal upper motor neuron morphology HP:0002127 Abnormal shape of upper motor neuron https://orcid.org/0000-0001-5208-3432 true HP:0002128 true HP:0002129 true HP:0002130 Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. HP:0006862 HP:0007152 HP:0007214 SNOMEDCT_US:421455009 UMLS:C1720189 Intermittent cerebellar ataxia Paroxysmal ataxia human_phenotype HP:0002131 Episodic ataxia HP:0002131 Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. https://orcid.org/0000-0002-0736-9199 A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. UMLS:C4082173 Cavity within brain human_phenotype HP:0002132 Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. Porencephalic cyst HP:0002132 A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system. PMID:9279052 https://orcid.org/0000-0002-0736-9199 Cavity within brain https://orcid.org/0000-0002-6548-5200 Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. SNOMEDCT_US:230456007 UMLS:C0038220 Prolonged seizure Repeated seizure without recovery Repeated seizures without recovery between them human_phenotype HP:0002133 In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. Status epilepticus HP:0002133 Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. HPO_CONTRIBUTOR:jalbers PMID:26336950 PMID:28276060 https://orcid.org/0000-0002-1735-8178 Repeated seizures without recovery between them https://orcid.org/0000-0002-6548-5200 Abnormality of the basal ganglia. HP:0006952 HP:0007257 SNOMEDCT_US:70835005 UMLS:C0004782 Abnormality of the basal ganglia Anomaly of the basal ganglia Basal ganglia disease human_phenotype HP:0002134 The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. Abnormal basal ganglia morphology HP:0002134 Abnormality of the basal ganglia. https://orcid.org/0000-0002-0736-9199 The presence of calcium deposition affecting one or more structures of the basal ganglia. HP:0002485 UMLS:C1389280 Basal ganglia calcifications Basal ganglion calcification Calcification of the basal ganglia human_phenotype HP:0002135 Basal ganglia calcification HP:0002135 The presence of calcium deposition affecting one or more structures of the basal ganglia. https://orcid.org/0000-0002-0736-9199 An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. UMLS:C0856863 Broad based gait Wide based gait Wide based walk Wide-based gait human_phenotype HP:0002136 Broad-based gait HP:0002136 An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. https://orcid.org/0000-0002-0736-9199 Wide based walk https://orcid.org/0000-0001-5208-3432 true HP:0002137 Hemorrhage occurring between the arachnoid mater and the pia mater. SNOMEDCT_US:21454007 UMLS:C0038525 Subarachnoid hemorrhage human_phenotype HP:0002138 Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. Subarachnoid hemorrhage HP:0002138 Hemorrhage occurring between the arachnoid mater and the pia mater. https://orcid.org/0009-0006-4530-3154 A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. UMLS:C0078982 Arhinencephaly human_phenotype HP:0002139 Arrhinencephaly HP:0002139 Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. SNOMEDCT_US:422504002 UMLS:C0948008 Ischaemic stroke human_phenotype HP:0002140 Ischemic stroke HP:0002140 Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. PMID:32054610 Ischaemic stroke HP:0100683 UMLS:C1836150 Abnormality of balance Abnormality of equilibrium Imbalanced walk human_phenotype HP:0002141 Gait imbalance HP:0002141 Abnormality of balance Abnormality of equilibrium Imbalanced walk https://orcid.org/0000-0001-5208-3432 true HP:0002142 A structural abnormality of the spinal cord (myelon). SNOMEDCT_US:48522003 UMLS:C0037928 UMLS:C4025722 Abnormality of the spinal cord human_phenotype Spinal cord disease Spinal cord pathology HP:0002143 Abnormal spinal cord morphology HP:0002143 A structural abnormality of the spinal cord (myelon). https://orcid.org/0000-0002-0736-9199 Abnormality of the spinal cord Spinal cord disease During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. SNOMEDCT_US:70534000 UMLS:C0080218 Occult spinal dysraphism human_phenotype HP:0002144 Tethered cord HP:0002144 During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. https://orcid.org/0000-0002-0736-9199 Occult spinal dysraphism https://orcid.org/0000-0001-5208-3432 A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. SNOMEDCT_US:230270009 UMLS:C0338451 human_phenotype HP:0002145 Frontotemporal dementia HP:0002145 A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. PMID:24966676 https://orcid.org/0000-0002-0736-9199 true HP:0002146 true HP:0002147 The concentration of phosphate ion in the blood circulation is below the lower limit of normal. SNOMEDCT_US:4996001 UMLS:C0085682 Decreased phosphate ion concentration Decreased phosphate ion level Decreased phosphate ion level in blood Hypophosphataemia Hypophosphatemia Low blood phosphate level Reduced phosphate ion concentration Reduced phosphate ion level Reduced phosphate ion level in blood human_phenotype HP:0002148 Hypophosphatemia HP:0002148 Low blood phosphate level https://orcid.org/0000-0001-5208-3432 The concentration of uric acid in the blood circulation is above the upper limit of normal. SNOMEDCT_US:35885006 UMLS:C0740394 Elevated uric acid concentration Elevated uric acid level Elevated uric acid level in blood High blood uric acid level Hyperuricaemia Hyperuricemia Increased uric acid concentration Increased uric acid level Increased uric acid level in blood human_phenotype HP:0002149 Hyperuricemia HP:0002149 High blood uric acid level https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:71938000 UMLS:C0020438 Elevated urine calcium levels Hypercalcinuria human_phenotype HP:0002150 Hypercalciuria HP:0002150 Elevated urine calcium levels https://orcid.org/0000-0001-5208-3432 Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). HP:0003638 Higher than normal levels of lactate in blood UMLS:C1836440 Increased blood lactate Increased serum lactate human_phenotype HP:0002151 Increased circulating lactate concentration HP:0002151 Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). PMID:24079682 https://orcid.org/0000-0002-0736-9199 Higher than normal levels of lactate in blood https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 An increased concentration of proteins in the blood. SNOMEDCT_US:37064009 UMLS:C0267988 human_phenotype HP:0002152 Hyperproteinemia HP:0002152 An increased concentration of proteins in the blood. HPO_CONTRIBUTOR:gcarletti The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. SNOMEDCT_US:14140009 SNOMEDCT_US:166689004 SNOMEDCT_US:238142003 UMLS:C0020461 Elevated potassium(1+) concentration Elevated potassium(1+) level Elevated potassium(1+) level in blood Hyperkalemia Increased circulating potassium concentration Increased potassium(1+) concentration Increased potassium(1+) level Increased potassium(1+) level in blood human_phenotype HP:0002153 Hyperkalemia HP:0002153 Increased circulating potassium concentration https://orcid.org/0000-0001-5208-3432 An elevated concentration of glycine in the blood. SNOMEDCT_US:64654004 UMLS:C0268559 Elevated blood glycine levels Hyperglycinaemia human_phenotype HP:0002154 Normal blood glycine levels are around 200-250 micromole per liter. Hyperglycinemia HP:0002154 An elevated concentration of glycine in the blood. HPO_CONTRIBUTOR:gcarletti PMID:16902722 PMID:4696900 Elevated blood glycine levels https://orcid.org/0000-0001-5208-3432 An abnormal increase in the level of triglycerides in the blood. HP:0003082 HP:0008174 HP:0008332 UMLS:C1522137 Increased circulating Tg levels Increased plasma Tg levels Increased plasma triglycerides Increased serum triglycerides Increased triglycerides human_phenotype HP:0002155 Hypertriglyceridemia HP:0002155 An abnormal increase in the level of triglycerides in the blood. https://orcid.org/0000-0002-0736-9199 Increased circulating Tg levels Increased plasma Tg levels Increased plasma triglycerides Increased serum triglycerides Increased triglycerides An increased concentration of homocystine in the urine. SNOMEDCT_US:11282001 UMLS:C0019880 High urine homocystine levels human_phenotype HP:0002156 Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. Homocystinuria HP:0002156 An increased concentration of homocystine in the urine. HPO_CONTRIBUTOR:gcarletti High urine homocystine levels https://orcid.org/0000-0001-5208-3432 An increased concentration of nitrogen compounds in the blood. SNOMEDCT_US:445009001 UMLS:C0242528 Azotaemia human_phenotype HP:0002157 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. Azotemia HP:0002157 An increased concentration of nitrogen compounds in the blood. HPO_CONTRIBUTOR:gcarletti true HP:0002158 An increased concentration of heparan sulfates in the urine. UMLS:C1854827 Heparan sulphate excretion in urine human_phenotype HP:0002159 Heparan sulfate excretion in urine HP:0002159 An increased concentration of heparan sulfates in the urine. https://orcid.org/0000-0002-0736-9199 Heparan sulphate excretion in urine An increased concentration of homocystine in the blood. UMLS:C3806347 Elevated blood homocystine Homocystinemia human_phenotype HP:0002160 Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. Hyperhomocystinemia HP:0002160 An increased concentration of homocystine in the blood. HPO_CONTRIBUTOR:gcarletti Elevated blood homocystine https://orcid.org/0000-0001-5208-3432 The concentration of lysine in the blood circulation is above the upper limit of normal. SNOMEDCT_US:58558003 UMLS:C0268553 Elevated blood lysine Elevated lysine concentration Elevated lysine level Elevated lysine level in blood Hyperlysinemia Increased lysine concentration Increased lysine level Increased lysine level in blood human_phenotype HP:0002161 Normal blood lysine levels are around 180-200 micromole per liter. Hyperlysinemia HP:0002161 Elevated blood lysine https://orcid.org/0000-0001-5208-3432 Hair on the neck extends more inferiorly than usual. UMLS:C1855728 Low hairline at back of neck Low posterior hair line human_phenotype HP:0002162 This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. Low posterior hairline HP:0002162 Hair on the neck extends more inferiorly than usual. PMID:19125436 Low hairline at back of neck https://orcid.org/0000-0001-5889-4463 true HP:0002163 The presence of developmental dysplasia of the nail. HP:0001793 HP:0001794 HP:0001797 HP:0008387 HP:0008403 HP:0008409 HP:0008412 UMLS:C1834405 Atypical nail growth Dysplastic nails Onychodysplasia human_phenotype HP:0002164 Nail dysplasia HP:0002164 The presence of developmental dysplasia of the nail. https://orcid.org/0000-0002-0736-9199 Atypical nail growth https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Inward advance of skin over the nail plate. SNOMEDCT_US:110987009 UMLS:C0406438 Nail pterygium Pterygium of nails human_phenotype HP:0002165 Nail pterygium HP:0002165 Inward advance of skin over the nail plate. https://orcid.org/0000-0002-0736-9199 A decrease in the ability to perceive vibration in the legs. UMLS:C1849134 Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs Distal sensory loss, especially vibratory sense Distal vibratory impairment of the lower limbs Impaired vibration sensation in the lower limbs human_phenotype HP:0002166 Impaired vibration sensation in the lower limbs HP:0002166 A decrease in the ability to perceive vibration in the legs. https://orcid.org/0000-0002-0736-9199 Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs Impaired vibration sensation in the lower limbs An abnormality in the sound (volume) or cadence (rate) of speech. UMLS:C0037822 Abnormal speech Abnormal vocalisation Abnormal vocalization Abnormality of speech or vocalization human_phenotype HP:0002167 The term Abnormal speech pattern includes both psychiatric and neurological conditions that affect the rate, rhythm, and volume of expressed speech. Abnormal speech pattern HP:0002167 Abnormal vocalisation An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. SNOMEDCT_US:102935005 SNOMEDCT_US:77420001 UMLS:C0278184 UMLS:C0522198 Explosive speech human_phenotype HP:0002168 Scanning speech HP:0002168 An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. PMID:16247074 Explosive speech https://orcid.org/0000-0001-5208-3432 A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. SNOMEDCT_US:36649002 UMLS:C0009024 Involuntary rhythmic muscular contractions and relaxations human_phenotype HP:0002169 Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. Clonus HP:0002169 A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. https://orcid.org/0000-0002-0736-9199 Involuntary rhythmic muscular contractions and relaxations http://purl.obolibrary.org/obo/hp#layperson https://orcid.org/0000-0002-6548-5200 Hemorrhage occurring within the skull. SNOMEDCT_US:1386000 UMLS:C0151699 Bleeding within the skull Intracranial haemorrhage human_phenotype HP:0002170 Intracranial hemorrhage HP:0002170 Hemorrhage occurring within the skull. HPO_CONTRIBUTOR:gcarletti Bleeding within the skull https://orcid.org/0000-0001-5208-3432 Intracranial haemorrhage Gliosis is the focal proliferation of glial cells in the central nervous system. SNOMEDCT_US:359580009 SNOMEDCT_US:81415000 UMLS:C0017639 Cerebral gliosis Excess astrocytes in brain human_phenotype HP:0002171 Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury. Gliosis HP:0002171 Gliosis is the focal proliferation of glial cells in the central nervous system. https://orcid.org/0009-0006-4530-3154 Excess astrocytes in brain https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. UMLS:C1843921 Balance impairment human_phenotype Abnormal retropulsion test Imbalance HP:0002172 Postural instability HP:0002172 A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. PMID:25613349 Balance impairment https://orcid.org/0000-0002-6548-5200 UMLS:C0877056 human_phenotype HP:0002173 Hypoglycemic seizures HP:0002173 A type of tremors that is triggered by holding a limb in a fixed position. HP:0006925 HP:0007197 SNOMEDCT_US:56610005 UMLS:C0234378 human_phenotype Tremor, postural HP:0002174 Postural tremor HP:0002174 A type of tremors that is triggered by holding a limb in a fixed position. https://orcid.org/0000-0002-0736-9199 Tremor, postural https://orcid.org/0000-0002-5316-1399 true HP:0002175 External mechanical compression of the spinal cord. SNOMEDCT_US:71286001 UMLS:C0037926 Pressure on spinal cord human_phenotype HP:0002176 Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. Spinal cord compression HP:0002176 External mechanical compression of the spinal cord. https://orcid.org/0000-0002-0736-9199 Pressure on spinal cord https://orcid.org/0000-0002-6548-5200 true HP:0002177 true HP:0002178 Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. SNOMEDCT_US:8652009 UMLS:C0151818 Arc de cercle Opisthotonos human_phenotype HP:0002179 Opisthotonus HP:0002179 Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. PMID:29972427 Progressive loss of neural cells and tissue. UMLS:C0027746 UMLS:C0524851 UMLS:C4020854 Ongoing loss of nerve cells human_phenotype Neuro-degenerative disease Neurodegenerative disease Progressive neurodegenerative disorder HP:0002180 Neurodegeneration HP:0002180 Progressive loss of neural cells and tissue. https://orcid.org/0000-0002-0736-9199 Ongoing loss of nerve cells https://orcid.org/0000-0002-6548-5200 Abnormal accumulation of fluid in the brain. Brain swelling SNOMEDCT_US:2032001 UMLS:C0006114 UMLS:C1527311 Brain edema Brain oedema Cerebral oedema Swelling of brain human_phenotype HP:0002181 Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging. Cerebral edema HP:0002181 Abnormal accumulation of fluid in the brain. https://orcid.org/0000-0002-0736-9199 Brain swelling https://orcid.org/0000-0001-5208-3432 Brain oedema Cerebral oedema Swelling of brain https://orcid.org/0000-0002-6548-5200 true HP:0002182 An abnormally heightened sensitivity to loud sounds. SNOMEDCT_US:313387002 UMLS:C0751466 Fear of loud sounds human_phenotype HP:0002183 Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. Phonophobia HP:0002183 Fear of loud sounds https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 true HP:0002184 Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. HP:0003132 HP:0007070 SNOMEDCT_US:85775002 UMLS:C0085400 NFTs Neurofibrillary tangles composed of disordered microtubules in neurons Paired helical filaments Tau-positive neurofibrillary tangles Tau-positive tangle human_phenotype HP:0002185 Neurofibrillary tangles HP:0002185 Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. PMID:19652142 PMID:38812098 https://orcid.org/0009-0006-4530-3154 NFTs A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. SNOMEDCT_US:68345001 SNOMEDCT_US:6950007 UMLS:C0003635 human_phenotype Apraxias HP:0002186 Apraxia HP:0002186 Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. SNOMEDCT_US:31216003 UMLS:C0020796 UMLS:C3161330 IQ less than 20 Intellectual disability, profound Mental retardation, profound Profound mental retardation human_phenotype HP:0002187 Persons with profound mental retardation generally require constant care. Profound intellectual disability HP:0002187 Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20. https://orcid.org/0000-0002-0736-9199 IQ less than 20 https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability Delayed myelination in the central nervous system. HP:0005770 HP:0006974 HP:0007300 UMLS:C4021758 Delay in central nervous system myelination human_phenotype HP:0002188 A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. Delayed CNS myelination HP:0002188 Delayed myelination in the central nervous system. https://orcid.org/0000-0002-0736-9199 HP:0001262 human_phenotype HP:0002189 obsolete Excessive daytime sleepiness true HP:0002189 A cyst occurring within the choroid plexus within a cerebral ventricle. SNOMEDCT_US:230790004 UMLS:C0338597 human_phenotype HP:0002190 Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. Choroid plexus cyst HP:0002190 A cyst occurring within the choroid plexus within a cerebral ventricle. https://orcid.org/0000-0002-0736-9199 Spasticity that increases in degree with time. UMLS:C1859520 Spasticity, progressive human_phenotype HP:0002191 Progressive spasticity HP:0002191 Spasticity that increases in degree with time. https://orcid.org/0000-0002-0736-9199 true HP:0002192 Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience. UMLS:C4025720 Pseudobulbar behavioral symptoms Pseudobulbar behavioural symptoms human_phenotype HP:0002193 Terminology has been varied and somewhat confusing, including involuntary emotional expression disorder, emotional lability, emotional dysregulation, pathological laughter and crying, emotional dysregulation, emotional incontinence, and emotionalism. PBA may be encountered in the setting of amyotrophic lateral sclerosis, extrapyramidal and cerebellar disorders (Parkinson disease, multiple system atrophy, progressive supranuclear palsy), multiple sclerosis, traumatic brain injury, Alzheimer disease and other dementias, stroke, and brain tumors. Pseudobulbar affect HP:0002193 Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience. PMID:24348042 https://orcid.org/0009-0006-4530-3154 Pseudobulbar behavioural symptoms A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. HP:0006905 HP:0007046 HP:0008973 SNOMEDCT_US:430099007 UMLS:C1837658 Delayed attainment of gross motor milestones Delayed attainment of gross motor skills Delayed development of gross motor milestones Delayed development of gross motor skills Delayed gross motor milestones Delayed gross motor skills Delayed motor skills Developmental delay, gross motor Gross motor delay Limited gross motor development Limited gross motor skills human_phenotype HP:0002194 Delayed gross motor development HP:0002194 A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. https://orcid.org/0000-0002-0736-9199 Delayed motor skills Defective development of the vermis of cerebellum. UMLS:C4025719 human_phenotype HP:0002195 Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. Dysgenesis of the cerebellar vermis HP:0002195 Defective development of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. SNOMEDCT_US:48522003 UMLS:C0037928 human_phenotype HP:0002196 This is a descriptive term that should not be used for new annotations. If possible, choose a more precise HPO term that describes the actual observed abnormality.The most frequent etiology of myelopathy is related to degenerative disease of the spine. This can be due to compression of the spinal cord by an osteophyte or extruded disc material in the cervical spine or, less often, in the thoracic spine. Subsequent to degenerative etiology, the next common etiologies are spinal cord compression due to extradural masses caused by metastatic disease to bone or blunt trauma. There are also primary neoplastic, infectious, inflammatory, neurodegenerative, vascular, nutritional, and idiopathic disorders that lead to myelopathy. Myelopathy HP:0002196 Myelopathy is an descriptive term, referring to pathology leading to a neurologic deficit related to the spinal cord. The clinical diagnosis of myelopathy requires a detailed history and physical examination to define the clinical syndrome. Neuroimaging is indicated in most instances of new-onset myelopathy. It is indicated also when the worsening of a myelopathy is unexplained. PMID:27430455 A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. HP:0002409 HP:0007114 HP:0007339 SNOMEDCT_US:246545002 UMLS:C0234533 UMLS:C1833488 Generalised onset seizure Generalised seizures Generalised-onset seizure Generalized onset seizure Generalized seizures Generalized-onset seizures Primary generalised seizure Primary generalized seizure human_phenotype HP:0002197 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalized onset does not rule out a focal-onset obscured by limitations of our current clinical methods. Generalized-onset seizure HP:0002197 A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 PMID:6790275 https://orcid.org/0000-0002-0736-9199 Generalised onset seizure Generalised seizures Generalised-onset seizure Generalized seizures Generalized-onset seizures Primary generalised seizure An abnormal dilatation of the fourth cerebral ventricle. HP:0007223 UMLS:C1847117 Enlarged fourth ventricle human_phenotype HP:0002198 Dilated fourth ventricle HP:0002198 An abnormal dilatation of the fourth cerebral ventricle. https://orcid.org/0000-0002-0736-9199 UMLS:C1855841 Low calcium seizures Seizures due to hypocalcemia human_phenotype HP:0002199 Hypocalcemic seizures HP:0002199 Low calcium seizures https://orcid.org/0000-0001-6908-9849 Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. UMLS:C1838579 Pseudobulbar symptoms human_phenotype HP:0002200 Pseudobulbar signs HP:0002200 Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. https://orcid.org/0009-0006-4530-3154 true HP:0002201 The presence of an excessive amount of fluid in the pleural cavity. SNOMEDCT_US:60046008 UMLS:C0032227 Fluid around lungs human_phenotype HP:0002202 Pleural effusion HP:0002202 The presence of an excessive amount of fluid in the pleural cavity. https://orcid.org/0000-0002-0736-9199 Fluid around lungs https://orcid.org/0000-0002-6548-5200 Inability to move the muscles of respiration. SNOMEDCT_US:64228003 UMLS:C0035232 human_phenotype HP:0002203 Respiratory paralysis HP:0002203 Inability to move the muscles of respiration. https://orcid.org/0000-0002-0736-9199 An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. SNOMEDCT_US:59282003 UMLS:C0034065 Blood clot in artery of lung human_phenotype HP:0002204 Pulmonary embolism HP:0002204 Blood clot in artery of lung https://orcid.org/0000-0002-6548-5200 An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. HP:0002782 HP:0002873 UMLS:C3806482 Frequent respiratory infections Multiple respiratory infections Recurrent respiratory infections Susceptibility to respiratory infections respiratory infections, recurrent human_phenotype HP:0002205 Recurrent respiratory infections HP:0002205 An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. https://orcid.org/0000-0002-0736-9199 Frequent respiratory infections Multiple respiratory infections Recurrent respiratory infections Susceptibility to respiratory infections respiratory infections, recurrent https://orcid.org/0000-0002-5316-1399 Replacement of normal lung tissues by fibroblasts and collagen. HP:0006523 SNOMEDCT_US:51615001 UMLS:C0034069 Pulmonary scarring human_phenotype HP:0002206 Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. Pulmonary fibrosis HP:0002206 Replacement of normal lung tissues by fibroblasts and collagen. HPO_CONTRIBUTOR:DDD_tkuijpers https://orcid.org/0000-0002-0736-9199 Pulmonary scarring UMLS:C1843428 human_phenotype HP:0002207 Diffuse reticular or finely nodular infiltrations HP:0002207 Hair shafts are rough in texture. HP:0200078 Rough hair texture SNOMEDCT_US:48610005 UMLS:C0277959 UMLS:C4072834 Coarse hair Coarse hair texture human_phenotype HP:0002208 Coarse hair HP:0002208 Hair shafts are rough in texture. https://orcid.org/0000-0002-0736-9199 Rough hair texture https://orcid.org/0000-0001-5889-4463 Coarse hair Coarse hair texture https://orcid.org/0000-0001-5889-4463 Decreased number of hairs per unit area of skin of the scalp. HP:0002233 HP:0002556 HP:0004526 HP:0004534 HP:0004541 HP:0004542 HP:0004772 HP:0004774 HP:0004775 HP:0004782 UMLS:C1857042 UMLS:C1873509 Decreased number of scalp follicles Hypotrichosis on scalp Reduced amount of scalp hair Reduced/lack of hair on scalp Reduction in the number of scalp follicles Scalp hypotrichosis Sparse scalp hair Thinning scalp hair human_phenotype Thin scalp hair HP:0002209 Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. Sparse scalp hair HP:0002209 Decreased number of hairs per unit area of skin of the scalp. PMID:19125436 PMID:28061825 Reduced amount of scalp hair Reduced/lack of hair on scalp https://orcid.org/0000-0001-6908-9849 Sparse scalp hair Thinning scalp hair Thin scalp hair true HP:0002210 A triangular depigmented region of white hairs located in the anterior midline of the scalp. SNOMEDCT_US:247564004 UMLS:C0344312 Poliosis of anterior hair Poliosis of forelock hair White part of hair above forehead human_phenotype HP:0002211 White forelock HP:0002211 A triangular depigmented region of white hairs located in the anterior midline of the scalp. https://orcid.org/0000-0002-0736-9199 Poliosis of anterior hair https://orcid.org/0000-0001-5889-4463 Poliosis of forelock hair https://orcid.org/0000-0001-5889-4463 White part of hair above forehead https://orcid.org/0000-0002-6548-5200 SNOMEDCT_US:225570000 UMLS:C0558165 Curly hair human_phenotype HP:0002212 Curly hair HP:0002212 Curly hair Hair that is fine or thin to the touch. HP:0200132 SNOMEDCT_US:247546006 UMLS:C0423867 Fine hair Fine hair shaft Fine hair texture Thin hair Thin hair shaft Thin hair texture Thinned hair human_phenotype HP:0002213 Fine hair HP:0002213 Hair that is fine or thin to the touch. https://orcid.org/0000-0002-0736-9199 Fine hair Fine hair shaft https://orcid.org/0000-0001-5889-4463 Fine hair texture https://orcid.org/0000-0001-5889-4463 Thin hair shaft https://orcid.org/0000-0001-5889-4463 Thin hair texture https://orcid.org/0000-0001-5889-4463 true HP:0002214 Reduced number or density of axillary hair. HP:0004514 HP:0004518 HP:0004545 Sparse axillary and pubic hair Sparse scalp, axillary, and pubic hair UMLS:C1858574 Limited armpit hair Little underarm hair sparse to absent axillary hair human_phenotype HP:0002215 Sparse axillary hair HP:0002215 Reduced number or density of axillary hair. https://orcid.org/0000-0002-0736-9199 Limited armpit hair https://orcid.org/0000-0002-6548-5200 Little underarm hair https://orcid.org/0000-0002-6548-5200 Development of gray hair at a younger than normal age. SNOMEDCT_US:387833009 UMLS:C0263498 Early graying Early greying Premature graying Premature graying of hair Premature greying Premature greying of hair Premature hair graying Premature hair greying human_phenotype Premature graying of the hair Premature greying of the hair HP:0002216 Premature graying of hair HP:0002216 Development of gray hair at a younger than normal age. https://orcid.org/0000-0002-0736-9199 Early graying Early greying Premature graying Premature graying of hair Premature greying Premature greying of hair Premature hair graying Premature hair greying Premature graying of the hair https://orcid.org/0000-0002-5316-1399 Premature greying of the hair Hair whose growth is slower than normal. HP:0004767 HP:0004770 HP:0004781 UMLS:C1832348 Delayed hair growth Poor hair growth Slow growing hair Slow rate of hair growth Slow speed of hair growth Slow-growing hair human_phenotype HP:0002217 Slow-growing hair HP:0002217 Hair whose growth is slower than normal. https://orcid.org/0000-0002-0736-9199 Slow growing hair Slow rate of hair growth https://orcid.org/0000-0001-5889-4463 Slow speed of hair growth https://orcid.org/0000-0001-5889-4463 Slow-growing hair Hypopigmented hair that appears silver-gray. UMLS:C1836576 Silver-gray hair Silver-gray hair color Silver-gray hair colour Silvery-gray hair human_phenotype HP:0002218 Silver-gray hair HP:0002218 Hypopigmented hair that appears silver-gray. https://orcid.org/0000-0002-0736-9199 Silver-gray hair Silver-gray hair color Silver-gray hair colour Silvery-gray hair Excessive, increased hair growth located in the facial region. UMLS:C1851400 Increased facial hair growth human_phenotype HP:0002219 Facial hypertrichosis HP:0002219 Increased facial hair growth https://orcid.org/0000-0001-5208-3432 UMLS:C1843390 human_phenotype HP:0002220 Melanin pigment aggregation in hair shafts HP:0002220 Absence of axillary hair. HP:0004549 UMLS:C1859392 human_phenotype HP:0002221 Absent axillary hair HP:0002221 Absence of axillary hair. https://orcid.org/0000-0002-0736-9199 true HP:0002222 Absence of the eyebrow. SNOMEDCT_US:253208007 SNOMEDCT_US:422441003 UMLS:C0431448 UMLS:C0578682 UMLS:C4280581 UMLS:C4280582 Absent eyebrow Absent eyebrows Failure of development of eyebrows Agenesis of eyebrows Aplasia of eyebrows Loss of eyebrows Missing eyebrows human_phenotype HP:0002223 Absent eyebrow HP:0002223 Absence of the eyebrow. https://orcid.org/0000-0002-0736-9199 Absent eyebrow Failure of development of eyebrows https://orcid.org/0000-0001-5889-4463 Agenesis of eyebrows https://orcid.org/0000-0001-5889-4463 Aplasia of eyebrows https://orcid.org/0000-0001-5889-4463 Loss of eyebrows https://orcid.org/0000-0001-5889-4463 Missing eyebrows https://orcid.org/0000-0001-5889-4463 The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Nappy hair texture MEDDRA:10048017 SNOMEDCT_US:52564001 UMLS:C0343073 UMLS:C4072835 UMLS:C4072836 UMLS:C4073292 Kinked hair Wooly hair human_phenotype Afro-textured hair Kinky hair texture HP:0002224 See figures in PMID:20464096. Woolly hair HP:0002224 The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. PMID:20464096 Nappy hair texture https://orcid.org/0000-0001-5889-4463 MEDDRA:10048017 Wooly hair Kinked hair https://orcid.org/0000-0002-6548-5200 Afro-textured hair https://orcid.org/0000-0001-5889-4463 Kinky hair texture https://orcid.org/0000-0001-5889-4463 Reduced number or density of pubic hair. HP:0004778 UMLS:C1858573 Decreased sexual hair Sparse pubic hair sparse to absent pubic hair human_phenotype HP:0002225 Sparse pubic hair HP:0002225 Reduced number or density of pubic hair. https://orcid.org/0000-0002-0736-9199 Decreased sexual hair Sparse pubic hair White color (lack of pigmentation) of the eyebrow. HP:0002228 HP:0004536 UMLS:C1836737 UMLS:C4280579 UMLS:C4280580 Depigmented eyebrow Hypopigmented eyebrow Pale eyebrow White eyebrow Grey eyebrow human_phenotype Blonde eyebrow HP:0002226 White eyebrow HP:0002226 White color (lack of pigmentation) of the eyebrow. https://orcid.org/0000-0002-0736-9199 Pale eyebrow https://orcid.org/0000-0001-5889-4463 White eyebrow Grey eyebrow https://orcid.org/0000-0001-5889-4463 Blonde eyebrow https://orcid.org/0000-0001-5889-4463 White color (lack of pigmentation) of the eyelashes. UMLS:C1836736 UMLS:C4280578 Blonde eyelashes Depigmented eyelashes Pale eyelashes White eyelashes Grey eyelashes human_phenotype HP:0002227 White eyelashes HP:0002227 White color (lack of pigmentation) of the eyelashes. https://orcid.org/0000-0003-1773-4011 Blonde eyelashes https://orcid.org/0000-0001-5889-4463 Pale eyelashes https://orcid.org/0000-0001-5889-4463 White eyelashes Grey eyelashes https://orcid.org/0000-0001-5889-4463 true HP:0002228 HP:0002232 human_phenotype HP:0002229 obsolete Alopecia areata true HP:0002229 Abnormally increased hair growth over much of the entire body. UMLS:C1849211 Excessive hairiness over body Generalised hirsutism human_phenotype HP:0002230 Generalized hirsutism HP:0002230 Abnormally increased hair growth over much of the entire body. https://orcid.org/0000-0002-0736-9199 Excessive hairiness over body https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Generalised hirsutism Sparseness of the body hair. UMLS:C1862863 Limited body hair Little body hair Sparse body hair Sparse to absent body hair human_phenotype HP:0002231 Sparse body hair HP:0002231 Sparseness of the body hair. https://orcid.org/0000-0002-0736-9199 Sparse body hair Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. HP:0002229 SNOMEDCT_US:68225006 UMLS:C0002171 UMLS:C1862862 Alopecia areata Patchy baldness human_phenotype HP:0002232 Patchy alopecia HP:0002232 Patchy baldness true HP:0002233 Loss of scalp hair at an earlier than normal age. UMLS:C4025718 Early balding human_phenotype HP:0002234 Early balding HP:0002234 Loss of scalp hair at an earlier than normal age. https://orcid.org/0000-0002-0736-9199 Early balding A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy. HP:0002285 UMLS:C1860608 human_phenotype HP:0002235 Pili canaliculi HP:0002235 A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy. PMID:8274794 https://orcid.org/0000-0002-0736-9199 Upward and/or sideward growth of anterior hair. UMLS:C1185616 UMLS:C2675540 UMLS:C3275754 Cowlick Frontal Cowlick Frontal upsweep of hair Upswept frontal hair human_phenotype Upswept frontal hair pattern Upswept frontal hairline HP:0002236 Frontal upsweep of hair HP:0002236 Upward and/or sideward growth of anterior hair. PMID:19125436 Cowlick Frontal Cowlick https://orcid.org/0000-0001-5889-4463 Frontal upsweep of hair Upswept frontal hair Upswept frontal hair pattern https://orcid.org/0000-0002-5316-1399 Upswept frontal hairline https://orcid.org/0000-0002-5316-1399 true HP:0002237 true HP:0002238 Hemorrhage affecting the gastrointestinal tract. SNOMEDCT_US:74474003 UMLS:C0017181 GI haemorrhage GI hemorrhage Gastrointestinal bleeding Gastrointestinal haemorrhage human_phenotype HP:0002239 Gastrointestinal hemorrhage HP:0002239 Hemorrhage affecting the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 GI haemorrhage GI hemorrhage Gastrointestinal bleeding Gastrointestinal haemorrhage Abnormally increased size of the liver. HP:0001393 HP:0001398 SNOMEDCT_US:80515008 UMLS:C0019209 Enlarged liver human_phenotype HP:0002240 Hepatomegaly HP:0002240 Abnormally increased size of the liver. https://orcid.org/0000-0002-0736-9199 Enlarged liver true HP:0002241 An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. HP:0002628 SNOMEDCT_US:85919009 UMLS:C0021831 Abnormality of the intestine Enteropathy human_phenotype HP:0002242 Abnormal intestine morphology HP:0002242 An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. https://orcid.org/0000-0002-0736-9199 Abnormality of the intestine Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. SNOMEDCT_US:22542007 SNOMEDCT_US:66972006 UMLS:C0033680 human_phenotype HP:0002243 Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. Protein-losing enteropathy HP:0002243 Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 A structural abnormality of the small intestine. UMLS:C4025717 Abnormality of the small intestine human_phenotype HP:0002244 Abnormal small intestine morphology HP:0002244 A structural abnormality of the small intestine. https://orcid.org/0000-0002-0736-9199 Meckel's diverticulum is a congenital diverticulum located in the distal ileum. MEDDRA:10027055 SNOMEDCT_US:127962001 SNOMEDCT_US:37373007 UMLS:C0025037 human_phenotype HP:0002245 Meckel diverticulum HP:0002245 Meckel's diverticulum is a congenital diverticulum located in the distal ileum. https://orcid.org/0000-0002-0736-9199 MEDDRA:10027055 Meckel's diverticulum An abnormality of the duodenum, i.e., the first section of the small intestine. UMLS:C4025716 Abnormality of the duodenum human_phenotype HP:0002246 Abnormal duodenum morphology HP:0002246 An abnormality of the duodenum, i.e., the first section of the small intestine. https://orcid.org/0000-0002-0736-9199 A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. Fyler:4406 MEDDRA:10013812 SNOMEDCT_US:51118003 UMLS:C0266174 Absence or narrowing of first part of small bowel human_phenotype HP:0002247 Duodenal atresia HP:0002247 A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. https://orcid.org/0000-0002-0736-9199 MEDDRA:10013812 Duodenal atresia Absence or narrowing of first part of small bowel https://orcid.org/0000-0002-6548-5200 The vomiting of blood. SNOMEDCT_US:8765009 UMLS:C0018926 Vomiting blood human_phenotype HP:0002248 The source of hematemesis is generally the upper gastrointestinal tract. Hematemesis HP:0002248 The vomiting of blood. https://orcid.org/0000-0002-0736-9199 Vomiting blood https://orcid.org/0000-0001-5208-3432 The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. SNOMEDCT_US:249627005 SNOMEDCT_US:267055007 SNOMEDCT_US:269899009 SNOMEDCT_US:2901004 SNOMEDCT_US:35064005 UMLS:C0025222 UMLS:C0474585 Black faeces Black feces human_phenotype HP:0002249 Melena HP:0002249 The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. https://orcid.org/0000-0002-0736-9199 Black faeces Black feces https://orcid.org/0000-0001-6908-9849 Any abnormality of the large intestine. UMLS:C4025715 Abnormality of the large intestine human_phenotype HP:0002250 The large intestine comprises the cecum and colon. Abnormal large intestine morphology HP:0002250 Any abnormality of the large intestine. https://orcid.org/0000-0002-0736-9199 Abnormality of the large intestine An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. HP:0002029 HP:0002030 HP:0002606 HP:0004391 Enlarged colon lacking nerve cells Hirschsprung megacolon human_phenotype Hirschsprung disease HP:0002251 Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Aganglionic megacolon HP:0002251 An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. PMID:17965226 https://orcid.org/0000-0002-0736-9199 Enlarged colon lacking nerve cells https://orcid.org/0000-0002-6548-5200 true HP:0002252 The presence of multiple diverticula of the colon. HP:0005860 MEDDRA:10009993 SNOMEDCT_US:398050005 UMLS:C0012811 UMLS:C0012819 Colonic diverticulosis human_phenotype Colon diverticula HP:0002253 Colonic diverticula HP:0002253 The presence of multiple diverticula of the colon. https://orcid.org/0000-0002-0736-9199 MEDDRA:10009993 Colonic diverticulosis Repeated episodes of diarrhea separated by periods without diarrhea. UMLS:C0239181 Episodic diarrhea Episodic diarrhoea Intermittent diarrhoea human_phenotype HP:0002254 Intermittent diarrhea HP:0002254 Episodic diarrhoea Intermittent diarrhoea true HP:0002255 MEDDRA:10013533 SNOMEDCT_US:8114009 UMLS:C0267498 human_phenotype HP:0002256 Small bowel diverticula HP:0002256 MEDDRA:10013533 Diverticula of small intestine Chronic inflammation of the nasal mucosa. SNOMEDCT_US:86094006 UMLS:C0008711 human_phenotype HP:0002257 Chronic rhinitis HP:0002257 Chronic inflammation of the nasal mucosa. https://orcid.org/0000-0002-0736-9199 true HP:0002258 true HP:0002259 true HP:0002260 true HP:0002261 true HP:0002262 More pronounced paramedian peaks and median notch of the Cupid's bow. UMLS:C1850629 Cupid bow upper lip Cupid's bow, accentuated Cupid-bow shaped upper lip Exaggerated cupid's bow Prominent cupid-bow of upper lip human_phenotype HP:0002263 This may be associated with a Deep philtrum, but that finding should be coded separately. Exaggerated cupid's bow HP:0002263 More pronounced paramedian peaks and median notch of the Cupid's bow. PMID:19125428 Cupid bow upper lip Cupid-bow shaped upper lip Exaggerated cupid's bow Prominent cupid-bow of upper lip true HP:0002264 UMLS:C3808403 Large fleshy ears human_phenotype HP:0002265 Large fleshy ears HP:0002265 Large fleshy ears A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. UMLS:C0752323 Focal clonic seizures Localised clonic seizure Localized clonic seizure Partial clonic seizure Segmental clonic seizure human_phenotype HP:0002266 The movement involves sustained rhythmic jerking, this may involve a limb, half the face or one side of the body, and may spread according to a Jacksonian march: The jerking may spread to involve parts of the body according to their representation on the motor cortex (according to the homunculus). Focal clonic seizure HP:0002266 A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. PMID:11580774 PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-1735-8178 Focal clonic seizures Localised clonic seizure Localized clonic seizure https://orcid.org/0000-0001-6908-9849 Partial clonic seizure https://orcid.org/0000-0001-6908-9849 An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. SNOMEDCT_US:19557000 UMLS:C0234166 UMLS:C1740801 UMLS:C1836014 UMLS:C1848918 Exaggerated acoustic startle response Increased startle response human_phenotype Hyperekplexia HP:0002267 Exaggerated startle response HP:0002267 An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. https://orcid.org/0000-0002-0736-9199 A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. HP:0002412 SNOMEDCT_US:230310003 UMLS:C0393588 Episodic dystonia human_phenotype HP:0002268 Paroxysmal dystonia HP:0002268 A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. https://orcid.org/0000-0002-0736-9199 An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. HP:0007317 UMLS:C1837249 Abnormal neuronal migration Heterotopias/abnormal migration Migrational brain disorder Neuronal migration disorder human_phenotype HP:0002269 Abnormality of neuronal migration HP:0002269 An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. https://orcid.org/0000-0002-0736-9199 An abnormality of the autonomic nervous system. UMLS:C4025714 human_phenotype HP:0002270 The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. Abnormality of the autonomic nervous system HP:0002270 An abnormality of the autonomic nervous system. https://orcid.org/0000-0002-0736-9199 HP:0012332 human_phenotype HP:0002271 obsolete Autonomic dysregulation true HP:0002271 true HP:0002272 Weakness of all four limbs. HP:0002338 SNOMEDCT_US:91327001 UMLS:C0270790 Quadriparesis human_phenotype HP:0002273 Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. Tetraparesis HP:0002273 Weakness of all four limbs. https://orcid.org/0000-0002-0736-9199 true HP:0002274 HP:0002311 human_phenotype HP:0002275 obsolete Poor motor coordination true HP:0002275 true HP:0002276 An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. HP:0000596 SNOMEDCT_US:12731000 SNOMEDCT_US:192915005 SNOMEDCT_US:271730003 UMLS:C0019937 Horner's syndrome Oculosympathetic palsy human_phenotype HP:0002277 Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. Horner syndrome HP:0002277 An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. https://orcid.org/0000-0002-0736-9199 Oculosympathetic palsy https://orcid.org/0000-0001-5208-3432 true HP:0002278 true HP:0002279 Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. UMLS:C1853377 Large cisterna magna human_phenotype Mega cisterna magna HP:0002280 Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. Enlarged cisterna magna HP:0002280 Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. https://orcid.org/0000-0002-0736-9199 HP:0002282 human_phenotype HP:0002281 obsolete Gray matter heterotopias true HP:0002281 Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. HP:0002281 HP:0007314 SNOMEDCT_US:128490007 SNOMEDCT_US:416286003 SNOMEDCT_US:417338002 UMLS:C0008519 Gray matter heterotopias Grey matter heterotopia Grey matter heterotopias Heterotopia Heterotopias Neuronal heterotopia human_phenotype HP:0002282 Gray matter heterotopia is caused by clumps of gray matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation. Neuronal heterotopia consists of gray matter within the white matter, and the term gray matter heterotopia is more frequently used. Gray matter heterotopia HP:0002282 Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. PMID:22427329 PMID:25180909 PMID:7524438 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0001-5208-3432 Gray matter heterotopias Grey matter heterotopia Grey matter heterotopias Heterotopias Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. HP:0002369 HP:0002462 UMLS:C0241816 Diffuse brain atrophy Generalised brain atrophy Generalised brain degeneration Generalised cerebral atrophy Generalized brain atrophy Generalized brain degeneration Generalized cerebral atrophy human_phenotype HP:0002283 Global brain atrophy can be visualized and quantified by magnetic resonance imaging. Global brain atrophy HP:0002283 Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. https://orcid.org/0009-0006-4530-3154 Generalised brain atrophy Generalised brain degeneration Generalised cerebral atrophy Generalized brain degeneration https://orcid.org/0000-0001-5208-3432 true HP:0002284 true HP:0002285 A lesser degree of hair pigmentation than would otherwise be expected. HP:0002214 HP:0002294 SNOMEDCT_US:297995004 UMLS:C0239801 UMLS:C1849221 Blond hair Fair hair Fair hair color Fair hair colour Flaxen hair color Flaxen hair colour Light colored hair Light coloured hair Sandy hair color Sandy hair colour Straw colored hair Straw coloured hair Towhead (hair color) human_phenotype HP:0002286 For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. Fair hair HP:0002286 A lesser degree of hair pigmentation than would otherwise be expected. https://orcid.org/0000-0003-1773-4011 Blond hair Fair hair Fair hair color https://orcid.org/0000-0001-5889-4463 Fair hair colour Flaxen hair color https://orcid.org/0000-0001-5889-4463 Flaxen hair colour Light colored hair https://orcid.org/0000-0001-5889-4463 Light coloured hair Sandy hair color https://orcid.org/0000-0001-5889-4463 Sandy hair colour Straw colored hair https://orcid.org/0000-0001-5889-4463 Straw coloured hair Towhead (hair color) https://orcid.org/0000-0001-5889-4463 Progressive loss of hair. UMLS:C1851885 human_phenotype HP:0002287 Progressive alopecia HP:0002287 Progressive loss of hair. https://orcid.org/0000-0002-0736-9199 true HP:0002288 Loss of all hair on the entire body. HP:0004550 SNOMEDCT_US:86166000 UMLS:C0263505 Alopecia, complete human_phenotype Universal alopecia HP:0002289 Alopecia universalis HP:0002289 Loss of all hair on the entire body. https://orcid.org/0000-0002-0736-9199 Circumscribed depigmentation of the hair of the head or the eyelashes. SNOMEDCT_US:14240001 UMLS:C0221262 Patch of white hair White patch human_phenotype HP:0002290 Poliosis HP:0002290 Circumscribed depigmentation of the hair of the head or the eyelashes. https://orcid.org/0000-0002-0736-9199 Patch of white hair White patch true HP:0002291 Absence of hair in the anterior midline and/or parietal areas. Male pattern baldness SNOMEDCT_US:87872006 UMLS:C1864584 UMLS:C4083212 Frontal balding human_phenotype HP:0002292 Frontal balding HP:0002292 Absence of hair in the anterior midline and/or parietal areas. PMID:19125436 Male pattern baldness https://orcid.org/0000-0001-5889-4463 Frontal balding HP:0200115 Absence of scalp hair Baldness Missing scalp hair SNOMEDCT_US:278040002 SNOMEDCT_US:298000004 SNOMEDCT_US:56317004 UMLS:C0002170 UMLS:C0574769 UMLS:C1850535 Pathologic hair loss from scalp Scalp hair loss human_phenotype HP:0002293 Alopecia of scalp HP:0002293 Absence of scalp hair https://orcid.org/0000-0001-5889-4463 Baldness https://orcid.org/0000-0001-5889-4463 Missing scalp hair https://orcid.org/0000-0001-5889-4463 Pathologic hair loss from scalp https://orcid.org/0000-0001-5889-4463 Scalp hair loss https://orcid.org/0000-0001-5889-4463 true HP:0002294 true HP:0002295 Progressively reduced or lacking hair growth. UMLS:C1857048 human_phenotype HP:0002296 Progressive hypotrichosis HP:0002296 Progressively reduced or lacking hair growth. https://orcid.org/0000-0002-0736-9199 Ginger hair color Ginger hair colour SNOMEDCT_US:297997007 UMLS:C0239803 Red hair Red hair color Red hair colour Red head (hair color) human_phenotype HP:0002297 Red hair HP:0002297 Ginger hair color https://orcid.org/0000-0001-5889-4463 Ginger hair colour Red hair Red hair color https://orcid.org/0000-0001-5889-4463 Red hair colour Red head (hair color) https://orcid.org/0000-0001-5889-4463 HP:0004548 SNOMEDCT_US:297991008 UMLS:C0574763 Absent hair human_phenotype HP:0002298 Absent hair HP:0002298 Absent hair Fragile, easily breakable hair, i.e., with reduced tensile strength. Easily breakable hair Fractured hair Fragile hair Reduced tensile strength of hair SNOMEDCT_US:25159003 UMLS:C0263490 UMLS:C1851868 UMLS:C1970705 UMLS:C4072837 Brittle hair human_phenotype HP:0002299 Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). Brittle hair HP:0002299 Fragile, easily breakable hair, i.e., with reduced tensile strength. https://orcid.org/0000-0003-1773-4011 Easily breakable hair https://orcid.org/0000-0001-5889-4463 Fractured hair https://orcid.org/0000-0001-5889-4463 Fragile hair https://orcid.org/0000-0001-5889-4463 Reduced tensile strength of hair https://orcid.org/0000-0001-5889-4463 Brittle hair Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. SNOMEDCT_US:88052002 UMLS:C0026884 Inability to speak Muteness human_phenotype HP:0002300 Mutism HP:0002300 Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. PMID:26709680 Inability to speak https://orcid.org/0000-0001-5208-3432 Muteness https://orcid.org/0000-0001-5208-3432 Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. SNOMEDCT_US:50582007 UMLS:C0018991 Paralysis on one side of body human_phenotype HP:0002301 Hemiplegia HP:0002301 Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. https://orcid.org/0000-0002-0736-9199 Paralysis on one side of body https://orcid.org/0000-0002-6548-5200 true HP:0002302 true HP:0002303 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. SNOMEDCT_US:33994004 UMLS:C0085623 human_phenotype HP:0002304 Akinesia is a typical extrapyramidal abnormality. Akinesia HP:0002304 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. https://orcid.org/0000-0002-0736-9199 A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. HP:0007167 HP:0007316 SNOMEDCT_US:44913001 SNOMEDCT_US:58593005 UMLS:C0004158 UMLS:C1845265 Athetoid movements Involuntary writhing movements Involuntary writhing movements in fingers, hands, toes, and feet human_phenotype HP:0002305 Athetosis derives from the Greek word for 'changeable' or 'unfixed'. Athetosis HP:0002305 A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. PMID:20589866 https://orcid.org/0000-0002-0736-9199 Involuntary writhing movements in fingers, hands, toes, and feet https://orcid.org/0000-0002-6548-5200 true HP:0002306 Habitual flow of saliva out of the mouth. SNOMEDCT_US:275295002 SNOMEDCT_US:53827007 SNOMEDCT_US:62718007 UMLS:C0013132 UMLS:C0037036 Dribbling Drooling Sialorrhea human_phenotype HP:0002307 Drooling HP:0002307 Habitual flow of saliva out of the mouth. PMID:15202698 https://orcid.org/0000-0002-0736-9199 Dribbling Drooling Sialorrhea https://orcid.org/0009-0006-4530-3154 Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. SNOMEDCT_US:253184003 UMLS:C0003803 Arnold-Chiari malformation Cerebellar tonsillar ectopia human_phenotype HP:0002308 Chiari malformation HP:0002308 Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. PMID:28613730 https://orcid.org/0000-0002-0736-9199 true HP:0002309 SNOMEDCT_US:49386006 UMLS:C0152115 Orofacial dyskinesias human_phenotype HP:0002310 Orofacial dyskinesia HP:0002310 A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. HP:0002275 HP:0002276 HP:0002370 SNOMEDCT_US:281016006 SNOMEDCT_US:302289002 UMLS:C0520966 Difficulties in coordination Incoordination Incoordination of limb movements Limb incoordination Poor coordination Poor motor coordination human_phenotype HP:0002311 Incoordination can result from a variety of problems affecting motor control-cerebellar dysfunction, sensory deficits, vestibular issues, or muscle weakness. Incoordination HP:0002311 Difficulties in coordination Incoordination Incoordination of limb movements Limb incoordination Poor coordination Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. SNOMEDCT_US:7006003 UMLS:C0233844 Clumsiness human_phenotype HP:0002312 Clumsiness HP:0002312 Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. https://orcid.org/0000-0002-0736-9199 Clumsiness Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. HP:0007191 SNOMEDCT_US:312444006 UMLS:C0037771 human_phenotype HP:0002313 Spastic paraparesis HP:0002313 Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. PMID:19277459 Deterioration of the tissues of the lateral corticospinal tracts. HP:0007254 UMLS:C1846566 Degeneration of lateral corticospinal tracts human_phenotype HP:0002314 Degeneration of the lateral corticospinal tracts HP:0002314 Deterioration of the tissues of the lateral corticospinal tracts. https://orcid.org/0000-0002-0736-9199 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. HP:0000266 HP:0001354 SNOMEDCT_US:25064002 UMLS:C0018681 Headache Headaches human_phenotype HP:0002315 Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumor or head injury; for the primary disorders the headache is not due to another condition. Headache HP:0002315 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. PMID:15304572 https://orcid.org/0000-0002-0736-9199 Headache Headaches true HP:0002316 SNOMEDCT_US:22631008 SNOMEDCT_US:394616008 UMLS:C0231686 Gait instability Unsteady walk human_phenotype HP:0002317 Unsteady gait HP:0002317 Unsteady walk https://orcid.org/0000-0001-5208-3432 A collection of pathologic conditions that result from progressive spinal cord dysfunction secondary to cord compression in the cervical spine. HP:0005788 SNOMEDCT_US:202664003 UMLS:C0149645 Cervical spondylotic myelopathy Degenerative cervical myelopathy human_phenotype HP:0002318 Cervical myelopathy HP:0002318 true HP:0002319 true HP:0002320 An abnormal sensation of spinning while the body is actually stationary. SNOMEDCT_US:271789005 SNOMEDCT_US:399090003 SNOMEDCT_US:399153001 SNOMEDCT_US:404640003 UMLS:C0012833 UMLS:C0042571 Dizzy spell human_phenotype Dizziness HP:0002321 Vertigo HP:0002321 An abnormal sensation of spinning while the body is actually stationary. https://orcid.org/0000-0002-0736-9199 Dizzy spell Dizziness A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. SNOMEDCT_US:25082004 UMLS:C0234379 Rest tremor Resting tremor Tremor at rest human_phenotype Parkinsonian tremor HP:0002322 Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. Resting tremor HP:0002322 A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. PMID:22675666 https://orcid.org/0000-0002-0736-9199 Resting tremor Tremor at rest Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Fyler:4332 SNOMEDCT_US:89369001 UMLS:C0002902 Embryonic anencephaly Fetal anencephaly Foetal anencephaly human_phenotype HP:0002323 See Figure 3 of PMID:32706613. Anencephaly HP:0002323 Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. PMID:31424828 PMID:32706613 Foetal anencephaly A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. SNOMEDCT_US:30023002 UMLS:C0020225 Hydrancephaly human_phenotype HP:0002324 Hydranencephaly HP:0002324 A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. https://orcid.org/0000-0002-0736-9199 Hydrancephaly https://orcid.org/0000-0001-5208-3432 true HP:0002325 UMLS:C0917805 Mini stroke TIA Transient ischaemic attack Transient ischaemic attacks Transient ischemic attacks human_phenotype HP:0002326 Transient ischemic attack HP:0002326 Mini stroke https://orcid.org/0000-0001-5208-3432 TIA https://orcid.org/0000-0002-5316-1399 Transient ischaemic attack Transient ischaemic attacks true HP:0002327 true HP:0002328 Abnormal feeling of sleepiness or difficulty staying awake. SNOMEDCT_US:271782001 SNOMEDCT_US:79519003 UMLS:C0013144 Abnormal drowsiness Drowsiness Sleepiness Sleepy Somnolence human_phenotype HP:0002329 Drowsiness HP:0002329 Abnormal feeling of sleepiness or difficulty staying awake. PMID:34589772 Drowsiness Sleepy https://orcid.org/0000-0001-5208-3432 A sleep attack is a sudden, irresistable episode of sleep that occurs during waking hours. UMLS:C4025713 Paroxysmal drowsiness Sleep attacks human_phenotype HP:0002330 Sleep attack HP:0002330 A sleep attack is a sudden, irresistable episode of sleep that occurs during waking hours. PMID:12077032 Sleep attacks Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. UMLS:C1854337 human_phenotype HP:0002331 Recurrent paroxysmal headache HP:0002331 Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. https://orcid.org/0000-0002-0736-9199 The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers. UMLS:C1845337 human_phenotype HP:0002332 Lack of peer relationships HP:0002332 Loss of previously present motor (i.e., movement) abilities. UMLS:C1866284 Progressive degeneration of movement human_phenotype HP:0002333 Motor deterioration HP:0002333 Loss of previously present motor (i.e., movement) abilities. https://orcid.org/0000-0002-0736-9199 Progressive degeneration of movement https://orcid.org/0000-0001-5208-3432 An anomaly of the vermis of cerebellum. UMLS:C4025712 Abnormality of the cerebellar vermis human_phenotype HP:0002334 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. Abnormal cerebellar vermis morphology HP:0002334 An anomaly of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 Congenital absence of the vermis of cerebellum. HP:0007125 SNOMEDCT_US:253175003 SNOMEDCT_US:716997004 UMLS:C0431399 Cerebellar vermis aplasia Vermian agenesis human_phenotype HP:0002335 Agenesis of cerebellar vermis HP:0002335 Congenital absence of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 true HP:0002336 true HP:0002337 true HP:0002338 Any structural abnormality of the caudate nucleus. UMLS:C4025711 Abnormality of the caudate nucleus human_phenotype HP:0002339 The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. Abnormal caudate nucleus morphology HP:0002339 Any structural abnormality of the caudate nucleus. https://orcid.org/0000-0002-0736-9199 UMLS:C1858116 Caudate degeneration human_phenotype HP:0002340 Caudate atrophy HP:0002340 Caudate degeneration https://orcid.org/0000-0001-5208-3432 Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. HP:0007145 UMLS:C0852866 Cervical cord compression myelopathy human_phenotype HP:0002341 Cervical cord compression HP:0002341 Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. https://orcid.org/0000-0002-0736-9199 Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. HP:0007303 SNOMEDCT_US:61152003 UMLS:C0026351 IQ between 34 and 49 Intellectual disability, moderate Mental retardation, moderate Moderate mental deficiency Moderate mental retardation human_phenotype HP:0002342 Moderate intellectual disability HP:0002342 Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. https://orcid.org/0000-0002-0736-9199 IQ between 34 and 49 https://www.merckmanuals.com/home/children-s-health-issues/learning-and-developmental-disorders/intellectual-disability A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. SNOMEDCT_US:30753002 UMLS:C0020258 Normal-pressure hydrocephalus human_phenotype HP:0002343 Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. Normal pressure hydrocephalus HP:0002343 A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. eMedicine:1135286 https://orcid.org/0000-0002-0736-9199 UMLS:C1854838 Neurologic deterioration Neurologic deterioration, progressive Progressive mental deterioration Progressive neurodegeneration Worsening neurological symptoms human_phenotype HP:0002344 Progressive neurologic deterioration HP:0002344 Worsening neurological symptoms https://orcid.org/0000-0002-6548-5200 A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. SNOMEDCT_US:30721006 UMLS:C0234376 UMLS:C4020853 human_phenotype Ataxic tremor HP:0002345 Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors Action tremor HP:0002345 A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. https://orcid.org/0000-0002-0736-9199 An unintentional, oscillating to-and-fro muscle movement affecting head movement. UMLS:C0239882 Head tremor human_phenotype HP:0002346 Head tremor HP:0002346 An unintentional, oscillating to-and-fro muscle movement affecting head movement. https://orcid.org/0000-0002-0736-9199 Head tremor true HP:0002347 true HP:0002348 A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. SNOMEDCT_US:117891000119100 SNOMEDCT_US:79348005 UMLS:C0234974 Focal aware seizures Focal seizure with retained awareness Focal seizure without impairment of awareness Focal seizure without impairment of consciousness or awareness Focal seizures without impairment of consciousness or awareness Partial seizure with retained awareness Partial seizure without impairment of awareness Simple partial seizure Simple partial seizures human_phenotype HP:0002349 In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. Focal aware seizure HP:0002349 A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. PMID:28276060 PMID:28276062 PMID:28276064 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-1735-8178 Focal aware seizures Focal seizures without impairment of consciousness or awareness Simple partial seizures UMLS:C1847762 Cerebellar cysts human_phenotype HP:0002350 Cerebellar cyst HP:0002350 Cerebellar cysts https://orcid.org/0000-0002-5316-1399 true HP:0002351 This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. HP:0006838 HP:0007073 SNOMEDCT_US:22811006 UMLS:C0270612 human_phenotype HP:0002352 This feature can be demonstrated by magnetic resonance imaging or computer tomography. Leukoencephalopathy HP:0002352 This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. https://orcid.org/0000-0002-0736-9199 Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. HP:0001346 HP:0002429 HP:0006841 SNOMEDCT_US:274521009 UMLS:C0151611 Abnormal EEG Abnormal electroencephalogram EEG abnormalities Electroencephalogram abnormal Electroencephalogram abnormalities human_phenotype HP:0002353 EEG abnormality HP:0002353 Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. https://orcid.org/0000-0002-0736-9199 Abnormal EEG EEG abnormalities An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. HP:0000747 HP:0002081 SNOMEDCT_US:386807006 SNOMEDCT_US:55533009 UMLS:C0233794 UMLS:C0542476 UMLS:C0751295 Amnesia Forgetfulness Memory impairment Memory loss Memory problems Poor memory human_phenotype HP:0002354 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. Memory impairment HP:0002354 An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. https://orcid.org/0000-0002-0736-9199 Amnesia Forgetfulness Memory impairment Memory loss Memory problems Poor memory HP:0001288 human_phenotype HP:0002355 obsolete Difficulty walking true HP:0002355 A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. SNOMEDCT_US:52008007 UMLS:C0154676 Writer's cramp human_phenotype HP:0002356 Writer's cramp HP:0002356 A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. https://orcid.org/0000-0002-0736-9199 Writer's cramp HP:0002381 human_phenotype HP:0002357 obsolete Dysphasia true HP:0002357 true HP:0002358 UMLS:C0850703 Frequent falls human_phenotype HP:0002359 Frequent falls HP:0002359 Frequent falls An abnormal pattern in the quality, quantity, or characteristics of sleep. SNOMEDCT_US:53888004 UMLS:C0037317 Difficulty sleeping Sleep abnormality Sleep disturbances Sleep dysfunction Sleep-wake disturbance Trouble sleeping human_phenotype HP:0002360 Sleep disturbance HP:0002360 An abnormal pattern in the quality, quantity, or characteristics of sleep. PMID:32809555 Difficulty sleeping https://orcid.org/0000-0001-5208-3432 Sleep disturbances https://orcid.org/0000-0002-5316-1399 Trouble sleeping Loss of previously present mental and motor abilities. UMLS:C1836842 Psychomotor degeneration human_phenotype HP:0002361 Psychomotor deterioration HP:0002361 Loss of previously present mental and motor abilities. https://orcid.org/0000-0002-0736-9199 A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. SNOMEDCT_US:43005009 UMLS:C0231688 Shuffled walk human_phenotype HP:0002362 Shuffling gait HP:0002362 Shuffled walk https://orcid.org/0000-0001-5208-3432 An anomaly of the brainstem. UMLS:C1850601 Abnormal shape of brainstem Abnormality of brainstem morphology Abnormality of the brainstem human_phenotype HP:0002363 Abnormal brainstem morphology HP:0002363 An anomaly of the brainstem. https://orcid.org/0000-0002-0736-9199 Abnormal shape of brainstem https://orcid.org/0000-0001-5208-3432 true HP:0002364 Underdevelopment of the brainstem. UMLS:C1842688 Brainstem hypoplasia Hypoplastic brain stem Hypoplastic brainstem Small brainstem Underdeveloped brainstem human_phenotype HP:0002365 This finding can be demonstrated by magnetic resonance imaging. Hypoplasia of the brainstem HP:0002365 Underdevelopment of the brainstem. https://orcid.org/0000-0002-0736-9199 Small brainstem Underdeveloped brainstem https://orcid.org/0000-0001-5208-3432 Any structural anomaly of the lower motor neuron. HP:0007276 UMLS:C1865412 Lower motor neuron disease Lower motor neuron manifestations Lower motor neuron signs human_phenotype HP:0002366 previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) Abnormal lower motor neuron morphology HP:0002366 Any structural anomaly of the lower motor neuron. https://orcid.org/0000-0002-0736-9199 Visual perception in the absence of a visual stimulus. SNOMEDCT_US:64269007 UMLS:C0233763 Visual hallucinations human_phenotype HP:0002367 Visual hallucination HP:0002367 Visual hallucinations true HP:0002368 true HP:0002369 HP:0002311 human_phenotype HP:0002370 obsolete Poor coordination true HP:0002370 UMLS:C0542223 Loss of speech human_phenotype HP:0002371 Loss of speech HP:0002371 Loss of speech Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. UMLS:C1843146 human_phenotype HP:0002372 Normal interictal EEG HP:0002372 A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. HP:0002175 HP:0007102 SNOMEDCT_US:41497008 UMLS:C0009952 Febrile convulsion Febrile seizures Fever induced seizures Seizures, febrile, in early childhood Seizures, generalized, associated with fever human_phenotype HP:0002373 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. Febrile seizure (within the age range of 3 months to 6 years) HP:0002373 A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. PMID:10353950 PMID:19125841 PMID:30078767 PMID:6779259 https://orcid.org/0000-0002-0736-9199 Febrile seizures Fever induced seizures https://orcid.org/0000-0001-5208-3432 UMLS:C4025710 Diminished movement human_phenotype HP:0002374 Diminished movement HP:0002374 Diminished movement Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. HP:0002603 HP:0006795 SNOMEDCT_US:255385008 SNOMEDCT_US:43994002 UMLS:C0086439 Decreased muscle movement Decreased spontaneous movement Decreased spontaneous movements human_phenotype HP:0002375 Hypokinesia HP:0002375 Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. https://orcid.org/0000-0002-0736-9199 Decreased muscle movement https://orcid.org/0000-0001-6908-9849 Decreased spontaneous movement Decreased spontaneous movements Loss of developmental skills, as manifested by loss of developmental milestones. HP:0002471 HP:0002489 HP:0006797 HP:0006828 HP:0006854 HP:0007037 HP:0007242 HP:0007247 SNOMEDCT_US:609225004 UMLS:C1836550 UMLS:C1836830 UMLS:C1850493 UMLS:C1855009 UMLS:C1855019 UMLS:C1855996 UMLS:C1857121 UMLS:C1859678 Loss of acquired milestones Loss of developmental milestones Loss of milestones Mental deterioration in childhood Neurodevelopmental regression Psychomotor regression Psychomotor regression beginning in infancy Psychomotor regression in infants Psychomotor regression, progressive human_phenotype HP:0002376 Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. Developmental regression HP:0002376 Loss of developmental skills, as manifested by loss of developmental milestones. https://orcid.org/0000-0002-6410-0882 Loss of developmental milestones Mental deterioration in childhood HP:0006824 human_phenotype HP:0002377 obsolete Paraganglioma-related cranial nerve palsy true HP:0002377 An unintentional, oscillating to-and-fro muscle movement affecting the hand. UMLS:C0239842 Hand tremor Tremor of hand Tremor of hands tremors in hands human_phenotype HP:0002378 Hand tremor HP:0002378 Hand tremor Tremor of hand Tremor of hands tremors in hands true HP:0002379 Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. HP:0002468 HP:0007092 SNOMEDCT_US:82470000 UMLS:C0015644 Fasciculation Muscle fasciculation Muscle twitch human_phenotype HP:0002380 This finding can be visible clinically and can be demonstrated by electromyography (EMG). Fasciculations HP:0002380 Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. https://orcid.org/0000-0002-0736-9199 Muscle twitch https://orcid.org/0000-0001-6908-9849 https://www.nlm.nih.gov/medlineplus/ency/article/003296.htm An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. HP:0002357 SNOMEDCT_US:87486003 UMLS:C0003537 Difficulty finding words Losing words Loss of words human_phenotype HP:0002381 Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. The terms aphasia and dysphasia are usually considered to be synonymous, but the word dysphasia has been used inconsistently and it is recommended to no longer use the term dysphasia. Aphasia HP:0002381 An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. PMID:27384070 Difficulty finding words Losing words Loss of words true HP:0002382 A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. SNOMEDCT_US:45170000 UMLS:C0014038 Brain inflammation human_phenotype HP:0002383 Infectious encephalitis HP:0002383 A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. PMID:24365426 Brain inflammation https://orcid.org/0000-0001-5208-3432 Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. HP:0002278 SNOMEDCT_US:4103001 UMLS:C0149958 UMLS:C0270834 Complex focal seizures Complex partial seizure Complex partial seizures Dyscognitive seizures Focal dyscognitive seizure Focal impaired awareness seizures Focal seizure with impairment of awareness Focal seizure with loss of awareness Focal seizures with impairment of consciousness or awareness Localised dyscognitive seizure Localised seizure with impaired awareness Localised seizure with loss of awareness Localized dyscognitive seizure Localized seizure with impaired awareness Localized seizure with loss of awareness Partial dyscognitive seizure Partial seizure with impairment of awareness Partial seizure with loss of awareness human_phenotype HP:0002384 Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. Focal impaired awareness seizure HP:0002384 Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. PMID:28276062 PMID:28276064 PMID:9738682 https://orcid.org/0000-0002-0736-9199 Focal impaired awareness seizures Focal seizures with impairment of consciousness or awareness Weakness or partial paralysis in the lower limbs. SNOMEDCT_US:1845001 UMLS:C0221166 Partial paralysis of legs human_phenotype HP:0002385 Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. Paraparesis HP:0002385 Weakness or partial paralysis in the lower limbs. https://orcid.org/0000-0002-0736-9199 Partial paralysis of legs https://orcid.org/0000-0002-6548-5200 true HP:0002386 true HP:0002387 true HP:0002388 If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. HP:0006884 HP:0007091 HP:0007336 UMLS:C1840380 Large cavum septi pellucidi Persistent cavum septum pellucidum Widened cavum septum pellucidum human_phenotype HP:0002389 Cavum septum pellucidum HP:0002389 If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:261482004 UMLS:C0348023 human_phenotype HP:0002390 Spinal arteriovenous malformation HP:0002390 true HP:0002391 The presence of complexes of repetitive spikes and waves in EEG. UMLS:C4021757 EEG: spike and multispike waves, 3-4 hz human_phenotype HP:0002392 EEG with polyspike wave complexes HP:0002392 The presence of complexes of repetitive spikes and waves in EEG. HPO_CONTRIBUTOR:jalbers true HP:0002393 true HP:0002394 Increased intensity of the a reflex in the leg. HP:0007245 HP:0007288 UMLS:C1836696 Brisk lower extremity reflexes Hyperreflexia in lower limbs Hyperreflexia in the lower limbs Increased deep tendon reflexes in the lower limbs Leg hyperreflexia Overactive lower leg reflex human_phenotype HP:0002395 Lower limb hyperreflexia HP:0002395 Overactive lower leg reflex https://orcid.org/0000-0001-6908-9849 A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). SNOMEDCT_US:55630000 UMLS:C0151564 human_phenotype HP:0002396 Cogwheel rigidity is a typical manifestation of Parkinson disease. Cogwheel rigidity HP:0002396 A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). https://orcid.org/0000-0002-0736-9199 true HP:0002397 HP:0007136 HP:0008312 UMLS:C1843505 Anterior horn cell loss Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord Degeneration of spinal cord anterior horn cells Loss of spinal cord anterior horn cells Progressive loss of anterior horn cells Spinal cord anterior horn cell degeneration human_phenotype HP:0002398 Degeneration of anterior horn cells HP:0002398 true HP:0002399 true HP:0002400 No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. UMLS:C1857287 Stroke-like episodes Strokelike episodes human_phenotype HP:0002401 Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent. Stroke-like episode HP:0002401 No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. PMID:22715346 PMID:23907585 Stroke-like episodes Strokelike episodes true HP:0002402 The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. SNOMEDCT_US:298310004 UMLS:C0240914 human_phenotype HP:0002403 Positive Romberg sign HP:0002403 The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. https://orcid.org/0000-0002-0736-9199 Increased width of the superior cerebellar peduncle. UMLS:C4021756 Thick cerebellar peduncles human_phenotype HP:0002404 Thickened superior cerebellar peduncle HP:0002404 Increased width of the superior cerebellar peduncle. https://orcid.org/0000-0002-0736-9199 true HP:0002405 A type of dysmetria involving the limbs. UMLS:C1854489 UMLS:C4280577 Uncoordinated limb movement human_phenotype HP:0002406 Limb dysmetria HP:0002406 A type of dysmetria involving the limbs. https://orcid.org/0000-0002-0736-9199 Uncoordinated limb movement https://orcid.org/0000-0001-6908-9849 true HP:0002407 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. Fyler:2201 SNOMEDCT_US:234142008 UMLS:C0917804 Cerebral AV malformation human_phenotype HP:0002408 Cerebral arteriovenous malformation HP:0002408 Cerebral AV malformation true HP:0002409 Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. UMLS:C2936786 Aqueduct of Sylvius stenosis Aqueduct stenosis Narrowing of aqueduct of Sylvius human_phenotype HP:0002410 Aqueductal stenosis HP:0002410 Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. https://orcid.org/0000-0002-0736-9199 Narrowing of aqueduct of Sylvius https://orcid.org/0000-0002-6548-5200 Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. SNOMEDCT_US:27678003 UMLS:C0684219 human_phenotype HP:0002411 Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity. Myokymia HP:0002411 Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. PMID:21501741 true HP:0002412 true HP:0002413 Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Split spine Fyler:4157 SNOMEDCT_US:67531005 UMLS:C0080178 human_phenotype HP:0002414 Spina bifida HP:0002414 Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. https://orcid.org/0000-0002-0736-9199 Split spine http://www.mayoclinic.org/diseases-conditions/spina-bifida/basics/definition/con-20035356?utm_source=google&utm_medium=abstract&utm_content=spina-bifida&utm_campaign=knowledge-panel https://orcid.org/0000-0001-5208-3432 Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. HP:0006926 HP:0007079 SNOMEDCT_US:192781003 UMLS:C0023520 Degeneration of white matter of brain human_phenotype HP:0002415 The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. Leukodystrophy HP:0002415 Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. PMID:30620693 https://orcid.org/0000-0002-0736-9199 Degeneration of white matter of brain https://en.wikipedia.org/wiki/leukodystrophy https://orcid.org/0000-0001-5208-3432 Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. UMLS:C1833431 Subependymal germinolytic cyst Subependymal pseudocyst human_phenotype HP:0002416 In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular. Subependymal cysts HP:0002416 Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. PMID:12423490 https://orcid.org/0000-0002-0736-9199 true HP:0002417 An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. UMLS:C4021755 Abnormal shape of midbrain Abnormality of midbrain morphology Abnormality of the mesencephalon Abnormality of the midbrain human_phenotype HP:0002418 Abnormal midbrain morphology HP:0002418 An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. https://orcid.org/0000-0002-0736-9199 Abnormal shape of midbrain https://orcid.org/0000-0001-5208-3432 Abnormality of the midbrain An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. UMLS:C1865060 Molar tooth sign Molar tooth sign on brain imaging Molar tooth sign on imaging human_phenotype HP:0002419 Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. Molar tooth sign on MRI HP:0002419 An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. PMID:14657304 https://orcid.org/0000-0002-0736-9199 true HP:0002420 Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. UMLS:C1836038 Delay in head control Delay in head righting Infant head lag Poor head control human_phenotype HP:0002421 Poor head control HP:0002421 Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months. PMID:33620859 https://orcid.org/0000-0002-0736-9199 Poor head control true HP:0002422 Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. These include spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign. If possible, it is preferable to use the precise HPO terms for these abnormalities. UMLS:C1865903 Long tract signs Long-tract signs human_phenotype HP:0002423 Long-tract sign HP:0002423 Long tract signs Long-tract signs true HP:0002424 A defect in the motor ability that enables speech. SNOMEDCT_US:48257004 UMLS:C0234517 Loss of articulate speech human_phenotype HP:0002425 Anarthria HP:0002425 A defect in the motor ability that enables speech. https://orcid.org/0000-0002-0736-9199 Loss of articulate speech http://dictionary.reference.com/browse/anarthria https://orcid.org/0000-0001-5208-3432 true HP:0002426 Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. SNOMEDCT_US:229654003 SNOMEDCT_US:229665008 SNOMEDCT_US:328681008 UMLS:C0003550 UMLS:C0917814 Broca's aphasia Loss of expressive speech Motor aphasia Non-fluent aphasia human_phenotype HP:0002427 Expressive aphasia HP:0002427 Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. https://orcid.org/0000-0002-0736-9199 Broca's aphasia https://en.wikipedia.org/wiki/aphasia https://orcid.org/0000-0001-5208-3432 Loss of expressive speech https://orcid.org/0000-0001-5208-3432 Motor aphasia https://en.wikipedia.org/wiki/aphasia https://orcid.org/0000-0001-5208-3432 Non-fluent aphasia true HP:0002428 true HP:0002429 true HP:0002430 true HP:0002431 true HP:0002432 true HP:0002433 true HP:0002434 Protrusion of the meninges through a defect of the skull or vertebral column. SNOMEDCT_US:171131006 UMLS:C0025299 human_phenotype HP:0002435 Meningocele HP:0002435 Protrusion of the meninges through a defect of the skull or vertebral column. PMID:32965845 https://orcid.org/0009-0006-4530-3154 A herniation of meninges through a congenital bone defect in the skull in the occipital region. SNOMEDCT_US:445468002 UMLS:C1848652 human_phenotype HP:0002436 Occipital meningocele HP:0002436 A herniation of meninges through a congenital bone defect in the skull in the occipital region. https://orcid.org/0000-0002-0736-9199 true HP:0002437 HP:0001317 human_phenotype HP:0002438 obsolete Cerebellar malformation true HP:0002438 UMLS:C1836151 human_phenotype HP:0002439 Frontolimbic dementia HP:0002439 true HP:0002440 true HP:0002441 A specific learning disability involving mathematics and arithmetic. Difficulty making arithmetical calculations SNOMEDCT_US:47916000 UMLS:C1411876 UMLS:C4280576 Acalculia human_phenotype HP:0002442 Dyscalculia HP:0002442 A specific learning disability involving mathematics and arithmetic. https://orcid.org/0000-0002-0736-9199 Difficulty making arithmetical calculations https://orcid.org/0000-0001-5208-3432 true HP:0002443 The presence of a hamartoma of the hypothalamus. SNOMEDCT_US:237714006 UMLS:C0342418 human_phenotype HP:0002444 Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to gray matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. Hypothalamic hamartoma HP:0002444 The presence of a hamartoma of the hypothalamus. https://orcid.org/0000-0002-0736-9199 Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. HP:0010552 SNOMEDCT_US:11538006 UMLS:C0034372 Paralysis of all four limbs Quadriplegia human_phenotype HP:0002445 Tetraplegia HP:0002445 Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. https://orcid.org/0000-0002-0736-9199 Paralysis of all four limbs https://orcid.org/0000-0001-5208-3432 Proliferation of astrocytes in the area of a lesion of the central nervous system. Increase in astrocyte number SNOMEDCT_US:81415000 UMLS:C3887640 human_phenotype HP:0002446 Astrocytosis HP:0002446 Proliferation of astrocytes in the area of a lesion of the central nervous system. https://orcid.org/0000-0002-0736-9199 Increase in astrocyte number https://orcid.org/0000-0001-5208-3432 true HP:0002447 Progressive brain disease UMLS:C1838578 UMLS:C4280575 human_phenotype HP:0002448 Progressive encephalopathy HP:0002448 Progressive brain disease https://orcid.org/0000-0001-5208-3432 true HP:0002449 Any structural anomaly that affects the motor neuron. UMLS:C4025707 Abnormal shape of motor neuron human_phenotype HP:0002450 Abnormal motor neuron morphology HP:0002450 Abnormal shape of motor neuron https://orcid.org/0000-0001-5208-3432 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. UMLS:C0751093 human_phenotype HP:0002451 Limb dystonia HP:0002451 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. https://orcid.org/0000-0002-0736-9199 true HP:0002452 An abnormality of the globus pallidus. HP:0007040 UMLS:C4025706 human_phenotype HP:0002453 The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. Abnormal globus pallidus morphology HP:0002453 An abnormality of the globus pallidus. https://orcid.org/0000-0002-0736-9199 The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. HP:0012677 UMLS:C4025705 human_phenotype HP:0002454 This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. Eye of the tiger anomaly of globus pallidus HP:0002454 The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. PMID:11110959 PMID:19881070 PMID:29371252 https://orcid.org/0000-0002-0736-9199 true HP:0002455 true HP:0002456 SNOMEDCT_US:271799000 UMLS:C0476217 Abnormal head movements human_phenotype HP:0002457 Abnormal head movements HP:0002457 Abnormal head movements true HP:0002458 HP:0012332 human_phenotype HP:0002459 obsolete Dysautonomia true HP:0002459 Reduced strength of the musculature of the distal extremities. HP:0002598 HP:0002935 HP:0003497 HP:0006940 HP:0009008 SNOMEDCT_US:249942005 UMLS:C0427065 UMLS:C1864696 Distal limb muscle weakness Distal limb weakness Distal muscular weakness Distal paresis Muscle weakness, distal Muscle weakness, distal limbs, due to neuronopathy Weakness of distal muscles Weakness of outermost muscles human_phenotype Distal limb muscle weakness due to peripheral neuropathy HP:0002460 Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. Distal muscle weakness HP:0002460 Reduced strength of the musculature of the distal extremities. https://orcid.org/0000-0002-0736-9199 Weakness of outermost muscles https://orcid.org/0000-0001-5208-3432 Distal limb muscle weakness due to peripheral neuropathy https://orcid.org/0000-0002-5316-1399 Pathological deposition of calcium salts in the dentate nucleus of the cerebellum. UMLS:C1859273 human_phenotype HP:0002461 Cerebellar dentate nucleus calcification HP:0002461 true HP:0002462 Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. SNOMEDCT_US:62305002 UMLS:C0023015 Language disorder human_phenotype HP:0002463 Language impairment HP:0002463 Language disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. SNOMEDCT_US:229684006 UMLS:C0454596 Rigid dysarthria human_phenotype HP:0002464 Spastic dysarthria HP:0002464 A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. https://orcid.org/0000-0002-0736-9199 Rigid dysarthria http://medical-dictionary.thefreedictionary.com/spastic+dysarthria https://orcid.org/0000-0001-5208-3432 Problems speaking UMLS:C1848207 UMLS:C4280574 Poor speech human_phenotype Difficulty speaking HP:0002465 Poor speech HP:0002465 Problems speaking https://orcid.org/0000-0001-5208-3432 Poor speech Difficulty speaking true HP:0002466 true HP:0002467 true HP:0002468 true HP:0002469 UMLS:C1845029 human_phenotype HP:0002470 Nonprogressive cerebellar ataxia HP:0002470 true HP:0002471 Reduced size of the cerebral cortex. HP:0006791 HP:0007151 UMLS:C1837503 Decreased volume of cerebral cortex human_phenotype HP:0002472 Small cerebral cortex HP:0002472 Reduced size of the cerebral cortex. https://orcid.org/0000-0002-0736-9199 true HP:0002473 A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. HP:0007192 Communication delay SNOMEDCT_US:229734008 UMLS:C0454641 UMLS:C1847610 UMLS:C4280573 Deficit in expressive language human_phenotype HP:0002474 Expressive language delay HP:0002474 A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. https://orcid.org/0000-0002-0736-9199 Communication delay https://orcid.org/0000-0001-5208-3432 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Fyler:4309 SNOMEDCT_US:203994003 SNOMEDCT_US:414667000 UMLS:C0025312 Meningomyelocele Spina bifida cystica human_phenotype HP:0002475 Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. Myelomeningocele HP:0002475 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. https://orcid.org/0000-0002-0736-9199 Spina bifida cystica https://orcid.org/0009-0006-4530-3154 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. UMLS:C1838319 Archaic reflex Primitive reflexes human_phenotype HP:0002476 Primitive reflex HP:0002476 The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. PMID:12700289 true HP:0002477 UMLS:C1859736 Progressive spastic quadriparesis human_phenotype HP:0002478 Progressive spastic quadriplegia HP:0002478 true HP:0002479 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. SNOMEDCT_US:13920009 SNOMEDCT_US:449902003 UMLS:C0019151 human_phenotype HP:0002480 Hepatic encephalopathy HP:0002480 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. https://orcid.org/0000-0002-0736-9199 true HP:0002481 true HP:0002482 UMLS:C1856507 human_phenotype HP:0002483 Bulbar signs HP:0002483 true HP:0002484 true HP:0002485 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. HP:0003632 HP:0003754 HP:0003792 SNOMEDCT_US:3434004 UMLS:C0027125 Delayed relaxation of muscle fibers after contraction Delayed relaxation of muscle fibres after contraction human_phenotype HP:0002486 Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. Myotonia HP:0002486 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. https://orcid.org/0000-0002-0736-9199 Delayed relaxation of muscle fibres after contraction Motor hyperactivity with excessive movement of muscles of the body as a whole. SNOMEDCT_US:44548000 SNOMEDCT_US:45352006 UMLS:C0037763 UMLS:C0424295 Hyperactive movements Hyperkinesia Hyperkinesis human_phenotype HP:0002487 Hyperkinetic movements HP:0002487 Motor hyperactivity with excessive movement of muscles of the body as a whole. https://orcid.org/0000-0002-0736-9199 Hyperactive movements https://orcid.org/0000-0001-5208-3432 A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). 2008-03-27T10:32:00Z Acute blood cancer SNOMEDCT_US:24072005 SNOMEDCT_US:91855006 UMLS:C0085669 UMLS:C4280572 Acute leukaemia Acute leukemias human_phenotype HP:0002488 Acute leukemia HP:0002488 A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). NCIT:C9300 Acute blood cancer https://orcid.org/0000-0001-5208-3432 Acute leukaemia true HP:0002489 Increased concentration of lactate in the cerebrospinal fluid. UMLS:C1167918 Hyperlactatorachia Increased CSF lactic acid Increased cerebrospinal fluid lactate human_phenotype HP:0002490 Increased CSF lactate HP:0002490 Increased concentration of lactate in the cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Spasticity of one or more muscles innervated by the facial nerve. HP:0000313 UMLS:C1853404 UMLS:C4280570 UMLS:C4280571 Spasticity of the facial muscles Increased stiffness of facial muscles Increased tone of facial muscles human_phenotype HP:0002491 Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort. Spasticity of facial muscles HP:0002491 Increased stiffness of facial muscles https://orcid.org/0000-0001-5889-4463 Increased tone of facial muscles https://orcid.org/0000-0001-5889-4463 Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. HP:0006912 UMLS:C4020852 UMLS:C4025704 Morphological abnormality of the corticospinal tract human_phenotype Abnormality of the corticospinal tract Involvement of the corticospinal pathways HP:0002492 Abnormal corticospinal tract morphology HP:0002492 Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. https://orcid.org/0000-0002-0736-9199 A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. UMLS:C1504405 UMLS:C1839042 Corticospinal tract dysfunction Pyramidal tract dysfunction human_phenotype HP:0002493 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). Upper motor neuron dysfunction HP:0002493 A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. https://orcid.org/0000-0002-0736-9199 Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements. SNOMEDCT_US:69020003 UMLS:C0392188 Abnormal REM sleep human_phenotype HP:0002494 Abnormal rapid eye movement sleep HP:0002494 Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements. PMID:31910377 PMID:32179430 A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. HP:0006836 HP:0007116 SNOMEDCT_US:130980003 UMLS:C1295585 Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Hypopallesthesia Impaired vibratory sensation Impaired vibratory sense human_phenotype HP:0002495 Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. Impaired vibratory sensation HP:0002495 A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. https://orcid.org/0000-0002-0736-9199 Decreased vibration sense Decreased vibratory sense Diminished vibratory sense Impaired vibratory sensation Impaired vibratory sense true HP:0002496 UMLS:C1849156 human_phenotype HP:0002497 Spastic ataxia HP:0002497 true HP:0002498 true HP:0002499 An abnormality of the cerebral white matter. HP:0200100 UMLS:C0948163 UMLS:C4020851 Abnormality of subcortical white matter Abnormality of the cerebral white matter Cerebral white matter abnormalities Leukoaraiosis White matter abnormalities White matter alterations human_phenotype Cortical white matter abnormalities seen on MRI HP:0002500 This finding can be demonstrated by magnetic resonance imaging, especially with t2 signaling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. Abnormal cerebral white matter morphology HP:0002500 An abnormality of the cerebral white matter. https://orcid.org/0000-0002-0736-9199 Leukoaraiosis PMID:3800716 Cortical white matter abnormalities seen on MRI https://orcid.org/0000-0002-5316-1399 UMLS:C1853398 human_phenotype HP:0002501 Spasticity of pharyngeal muscles HP:0002501 true HP:0002502 UMLS:C1866751 Degeneration of the spinocerebellar tracts Spinocerebellar degeneration human_phenotype HP:0002503 Spinocerebellar tract degeneration HP:0002503 Deposition of calcium salts within small blood vessels of the brain. UMLS:C4025703 human_phenotype HP:0002504 This finding can be made upon neuropathologic examination. Calcification of the small brain vessels HP:0002504 Deposition of calcium salts within small blood vessels of the brain. https://orcid.org/0000-0002-0736-9199 Inability to walk in a person who previous had the ability to walk. HP:0006957 UMLS:C1836843 Loss of ability to walk human_phenotype HP:0002505 Loss of ambulation HP:0002505 Loss of ability to walk Diffuse unlocalised atrophy affecting the cerebrum. HP:0006954 UMLS:C0598275 Cerebral atrophy, diffuse human_phenotype HP:0002506 Diffuse cerebral atrophy HP:0002506 Diffuse unlocalised atrophy affecting the cerebrum. https://orcid.org/0009-0006-4530-3154 A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. SNOMEDCT_US:253138008 UMLS:C0751617 human_phenotype HP:0002507 Semilobar holoprosencephaly HP:0002507 A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. HPO_CONTRIBUTOR:GC_HPE A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. HP:0006991 UMLS:C1855677 Brainstem hypoplasia/dysplasia Malformation of brainstem structures human_phenotype HP:0002508 Brainstem dysplasia HP:0002508 A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. https://orcid.org/0000-0002-0736-9199 UMLS:C1838391 Appendicular hypertonia Increased muscle tone of arm or leg human_phenotype HP:0002509 Limb hypertonia HP:0002509 Increased muscle tone of arm or leg https://orcid.org/0000-0002-6548-5200 Spastic paralysis affecting all four limbs. HP:0001280 HP:0006983 SNOMEDCT_US:192965001 UMLS:C0426970 Spastic quadriplegia human_phenotype HP:0002510 Spastic tetraplegia HP:0002510 Spastic paralysis affecting all four limbs. https://orcid.org/0000-0002-0736-9199 A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. HP:0006878 HP:0007213 DOID:10652 MONDO:0004975 SNOMEDCT_US:230267005 SNOMEDCT_US:26929004 UMLS:C0002395 UMLS:C1863051 Alzheimer disease Late-onset form of familial Alzheimer disease human_phenotype HP:0002511 Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. Alzheimer disease HP:0002511 A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. https://orcid.org/0000-0002-0736-9199 Alzheimer disease Late-onset form of familial Alzheimer disease SNOMEDCT_US:25816005 SNOMEDCT_US:5582005 UMLS:C0270680 human_phenotype HP:0002512 Brain stem compression HP:0002512 true HP:0002513 The presence of calcium deposition within the cerebrum. HP:0002502 HP:0005806 HP:0006848 SNOMEDCT_US:17944005 UMLS:C0270685 Abnormal deposits of calcium in the brain human_phenotype HP:0002514 This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. The cerebrum is the largest of the five major components of the brain, which comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus. Cerebral calcification HP:0002514 The presence of calcium deposition within the cerebrum. https://orcid.org/0000-0002-0736-9199 Abnormal deposits of calcium in the brain https://orcid.org/0000-0002-6548-5200 Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. SNOMEDCT_US:271706000 UMLS:C0231712 Waddling gait Waddling walk human_phenotype HP:0002515 Waddling gait HP:0002515 Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. PMID:27770207 Waddling gait Waddling walk https://orcid.org/0000-0001-5208-3432 An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. SNOMEDCT_US:271719001 UMLS:C0151740 Intracranial hypertension Intracranial pressure elevation Rise in pressure inside skull human_phenotype Pseudotumor cerebri HP:0002516 Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. Increased intracranial pressure HP:0002516 An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Rise in pressure inside skull https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0002517 A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. UMLS:C2673431 Abnormality of the periventricular white matter human_phenotype Periventricular white matter abnormalities HP:0002518 Abnormal periventricular white matter morphology HP:0002518 Periventricular white matter abnormalities https://orcid.org/0000-0002-5316-1399 Hypnagogic hallucinations are brief hallucinations that occur when falling asleep. SNOMEDCT_US:44780000 UMLS:C0233773 Hallucinations while falling asleep human_phenotype HP:0002519 Hypnagogic hallucinations are typically reported as visual, auditory, and tactile sensations. Visual phenomena often consist of kaleidoscopically changing patterns, shapes, and flashes of light. Lifelike and highly detailed images of animals, people, faces, and scenes are also common, displaying a wide range of vivid colors. Auditory experiences, although less frequent, may include voices, as well as sounds like a ringing phone, doorbell, or music. These auditory impressions may involve words, names, conversations, or environmental and animal sounds. Additionally, hypnagogic hallucinations can manifest as somatic experiences, which include bodily distortions, feelings of weightlessness, sensations of flying or falling, and an eerie sense of a presence in the room. Hypnagogic hallucination HP:0002519 Hypnagogic hallucinations are brief hallucinations that occur when falling asleep. PMID:27872259 true HP:0002520 Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). SNOMEDCT_US:28055006 UMLS:C0684276 Hypsarrhythmia by EEG human_phenotype HP:0002521 Hypsarrhythmia HP:0002521 Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 Inability to elicit tendon reflexes in the lower limbs. UMLS:C1856694 Absent lower limb tendon reflexes Areflexia in lower limbs Areflexia of the lower limbs Areflexia, lower limbs human_phenotype HP:0002522 Areflexia of lower limbs HP:0002522 Inability to elicit tendon reflexes in the lower limbs. https://orcid.org/0000-0002-0736-9199 true HP:0002523 A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. HP:0002428 HP:0002525 HP:0030050 SNOMEDCT_US:46263000 UMLS:C0007384 human_phenotype Narcolepsy HP:0002524 Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. Cataplexy HP:0002524 A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. PMID:21931493 PMID:22249574 https://orcid.org/0000-0002-0736-9199 true HP:0002525 Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. UMLS:C4025702 human_phenotype HP:0002526 Deficit in nonword repetition HP:0002526 Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:161898004 SNOMEDCT_US:1912002 UMLS:C0085639 Falls human_phenotype HP:0002527 Falls HP:0002527 Falls Electron-dense granules within double membrane-bound cytoplasmic vacuoles. SNOMEDCT_US:90506004 UMLS:C0333454 human_phenotype HP:0002528 Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. Granulovacuolar degeneration HP:0002528 Electron-dense granules within double membrane-bound cytoplasmic vacuoles. PMID:22073234 HP:0002400 UMLS:C1850496 Loss of brain cells Neuronal loss Neuronal loss in CNS human_phenotype HP:0002529 This finding can be demonstrated by neuropathology. Neuronal loss in central nervous system HP:0002529 Loss of brain cells https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Neuronal loss in CNS A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. UMLS:C1836149 Truncal dystonia human_phenotype HP:0002530 Axial dystonia HP:0002530 A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. https://orcid.org/0000-0002-0736-9199 true HP:0002531 true HP:0002532 Involuntary flexion or extension of the arms and legs. SNOMEDCT_US:43029002 UMLS:C0231471 human_phenotype HP:0002533 Abnormal posturing HP:0002533 Involuntary flexion or extension of the arms and legs. https://orcid.org/0000-0002-0736-9199 true HP:0002534 true HP:0002535 An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. HP:0006900 Gyral disorganisation Gyral disorganization UMLS:C1856019 Abnormal gyration Cerebral gyral anomalies human_phenotype HP:0002536 Abnormal cortical gyration HP:0002536 An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. https://orcid.org/0000-0002-0736-9199 Gyral disorganisation true HP:0002537 Any structural abnormality of the cerebral cortex. UMLS:C4025701 Abnormality of the cerebral cortex human_phenotype HP:0002538 The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. Abnormal cerebral cortex morphology HP:0002538 Any structural abnormality of the cerebral cortex. PMID:31373394 https://orcid.org/0000-0002-0736-9199 The presence of developmental dysplasia of the cerebral cortex. HP:0007139 SNOMEDCT_US:253153000 UMLS:C0431380 Neocortical dysplasia human_phenotype HP:0002539 Cortical dysplasia HP:0002539 The presence of developmental dysplasia of the cerebral cortex. https://orcid.org/0000-0002-0736-9199 Incapability to ambulate. SNOMEDCT_US:282145008 UMLS:C0560046 Inability to walk Non-ambulatory human_phenotype HP:0002540 Inability to walk HP:0002540 Incapability to ambulate. https://orcid.org/0000-0002-0736-9199 Inability to walk true HP:0002541 Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. HP:0005683 SNOMEDCT_US:67761004 UMLS:C0028968 Olivopontocerebellar degeneration human_phenotype HP:0002542 Olivopontocerebellar atrophy HP:0002542 Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. https://orcid.org/0000-0002-0736-9199 true HP:0002543 A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. UMLS:C3887667 human_phenotype HP:0002544 Retrocollis is a spasmodic form of torticollis in which the head is drawn back. Retrocollis HP:0002544 A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. PMID:17917462 https://orcid.org/0000-0002-0736-9199 Patchy loss of myelin from nerve fibers in the central nervous system. UMLS:C1857638 human_phenotype HP:0002545 Patchy demyelination of subcortical white matter HP:0002545 Patchy loss of myelin from nerve fibers in the central nervous system. https://orcid.org/0000-0002-0736-9199 UMLS:C1838027 Incomprehensible speech human_phenotype HP:0002546 Incomprehensible speech HP:0002546 Incomprehensible speech true HP:0002547 Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. UMLS:C1846868 Parkinsonism with favourable response to dopaminergic medication human_phenotype Favorable response to levodopa Favourable response to levodopa HP:0002548 Parkinsonism with favorable response to dopaminergic medication HP:0002548 Parkinsonism with favourable response to dopaminergic medication Favourable response to levodopa Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory UMLS:C1847609 Deficit in non-word repetition Impaired non-word repetition human_phenotype HP:0002549 Deficit in phonologic short-term memory HP:0002549 Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory PMID:19646677 Absence of facial hair. UMLS:C1848192 Absent facial hair human_phenotype HP:0002550 Absent facial hair HP:0002550 Absence of facial hair. https://orcid.org/0000-0002-0736-9199 Absent facial hair true HP:0002551 Developmental dysplasia of the hair. HP:0004515 UMLS:C4020850 UMLS:C4025700 human_phenotype Generalised trichodysplasia Generalized trichodysplasia HP:0002552 Trichodysplasia HP:0002552 Developmental dysplasia of the hair. https://orcid.org/0000-0002-0736-9199 Generalised trichodysplasia Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. HP:0001584 HP:0004533 HP:0007681 HP:0007804 HP:0008505 UMLS:C1868571 UMLS:C4020849 Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Highly arched eyebrow Thick, flared eyebrows human_phenotype Bowed and upward slanting eyebrows High arched eyebrows HP:0002553 Most eyebrows have some arch with downturning medially and laterally. Highly arched eyebrow HP:0002553 Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. PMID:19125427 Arched eyebrows Broad, arched eyebrows High, rounded eyebrows High-arched eyebrows Highly arched eyebrow Thick, flared eyebrows Bowed and upward slanting eyebrows High arched eyebrows https://orcid.org/0000-0002-5316-1399 true HP:0002554 Absence of pubic hair. HP:0004537 HP:0004556 UMLS:C1859391 Absent pubic hair human_phenotype HP:0002555 Absent pubic hair HP:0002555 Absence of pubic hair. https://orcid.org/0000-0002-0736-9199 Absent pubic hair true HP:0002556 Underdevelopment of the nipple. HP:0002560 HP:0003188 HP:0006652 SNOMEDCT_US:268290005 UMLS:C0432355 Nipple hypoplasia Small nipples human_phenotype HP:0002557 Hypoplastic nipples HP:0002557 Underdevelopment of the nipple. https://orcid.org/0000-0002-0736-9199 Small nipples Presence of more than two nipples. HP:0002559 Fyler:4234 SNOMEDCT_US:50956007 UMLS:C0266011 Accessory nipple Increased nipple number accessory mamilla human_phenotype Accessory nipples Supernumerary nipples accessory mamillas HP:0002558 Supernumerary nipple HP:0002558 Presence of more than two nipples. https://orcid.org/0000-0002-0736-9199 Accessory nipple Increased nipple number https://orcid.org/0000-0001-5208-3432 Accessory nipples true HP:0002559 true HP:0002560 Congenital failure to develop, and absence of, the nipple. SNOMEDCT_US:248820000 UMLS:C0425795 Absent nipple Absent nipples Athelia human_phenotype HP:0002561 This finding can be unilateral or bilateral. Absent nipple HP:0002561 Absent nipple Absent nipples Placement of the nipples at a lower than normal location. UMLS:C1836933 Low-set nipples human_phenotype HP:0002562 Low-set nipples HP:0002562 Placement of the nipples at a lower than normal location. https://orcid.org/0000-0002-0736-9199 Low-set nipples Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. SNOMEDCT_US:85598007 UMLS:C0031048 human_phenotype HP:0002563 Constrictive pericarditis HP:0002563 Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. https://orcid.org/0000-0002-0736-9199 HP:0030680 human_phenotype HP:0002564 obsolete Malformation of the heart and great vessels true HP:0002564 true HP:0002565 An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. HP:0002026 MEDDRA:10064024 SNOMEDCT_US:253789002 SNOMEDCT_US:29980002 SNOMEDCT_US:48641006 UMLS:C0221210 Malrotation human_phenotype Gut malrotation HP:0002566 Intestinal malrotation HP:0002566 An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. PMID:12438031 https://orcid.org/0000-0002-0736-9199 MEDDRA:10064024 Intestinal malrotation Gut malrotation https://orcid.org/0000-0002-5316-1399 true HP:0002567 true HP:0002568 true HP:0002569 Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. SNOMEDCT_US:27868004 SNOMEDCT_US:66187002 UMLS:C0038238 Fat in faeces Fat in feces Fatty stool Greasy stools human_phenotype HP:0002570 Steatorrhea HP:0002570 Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. https://orcid.org/0000-0002-0736-9199 Fat in faeces Fat in feces https://orcid.org/0000-0002-6548-5200 Greasy stools A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. MEDDRA:10030136 SNOMEDCT_US:45564002 UMLS:C0014848 Achalasia of the esophagus Achalasia of the oesophagus human_phenotype HP:0002571 Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. Achalasia HP:0002571 A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10030136 Oesophageal achalasia Achalasia of the oesophagus Paroxysmal, recurrent episodes of vomiting. UMLS:C1838993 UMLS:C1857202 Episodic vomiting human_phenotype Frequent vomiting HP:0002572 Episodic vomiting HP:0002572 Paroxysmal, recurrent episodes of vomiting. https://orcid.org/0000-0002-0736-9199 Episodic vomiting Frequent vomiting https://orcid.org/0000-0002-5316-1399 The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. HP:0002255 HP:0002609 SNOMEDCT_US:236068001 SNOMEDCT_US:405729008 UMLS:C0018932 Rectal bleeding human_phenotype Recurrent rectal bleeding HP:0002573 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. Hematochezia HP:0002573 The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. https://orcid.org/0000-0002-6410-0882 Rectal bleeding Recurrent rectal bleeding https://orcid.org/0000-0002-5316-1399 An intermittent form of abdominal pain. UMLS:C0262527 UMLS:C3808022 human_phenotype Intermittent abdominal pain HP:0002574 Episodic abdominal pain HP:0002574 An intermittent form of abdominal pain. https://orcid.org/0000-0002-0736-9199 Intermittent abdominal pain An abnormal connection (fistula) between the esophagus and the trachea. Abnormal connection between trachea and esophagus Abnormal connection between trachea and oesophagus Fyler:4202 MEDDRA:10044310 SNOMEDCT_US:95435007 UMLS:C0040588 human_phenotype HP:0002575 Tracheoesophageal fistula HP:0002575 An abnormal connection (fistula) between the esophagus and the trachea. https://orcid.org/0000-0002-0736-9199 Abnormal connection between trachea and esophagus https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Abnormal connection between trachea and oesophagus MEDDRA:10044310 Tracheo-oesophageal fistula An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. MEDDRA:10022863 SNOMEDCT_US:35327006 SNOMEDCT_US:49723003 UMLS:C0021933 human_phenotype HP:0002576 Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. Intussusception HP:0002576 An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. https://orcid.org/0000-0002-0736-9199 MEDDRA:10022863 Intussusception An abnormality of the stomach. UMLS:C4025699 Abnormality of the stomach human_phenotype HP:0002577 The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. Abnormal stomach morphology HP:0002577 An abnormality of the stomach. https://orcid.org/0000-0002-0736-9199 Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. SNOMEDCT_US:196753007 SNOMEDCT_US:235675006 UMLS:C0152020 Delayed gastric emptying human_phenotype HP:0002578 Gastroparesis HP:0002578 Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. https://orcid.org/0000-0002-0736-9199 Delayed gastric emptying https://orcid.org/0000-0001-5208-3432 Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. UMLS:C1836923 GI dysmotility human_phenotype HP:0002579 Gastrointestinal dysmotility HP:0002579 Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. https://orcid.org/0000-0002-0736-9199 GI dysmotility Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. SNOMEDCT_US:90738007 SNOMEDCT_US:9707006 UMLS:C0042961 human_phenotype HP:0002580 Volvulus can lead to intestinal obstruction and ischemia. Volvulus HP:0002580 Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. https://orcid.org/0000-0002-0736-9199 true HP:0002581 Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. SNOMEDCT_US:84568007 UMLS:C0017154 Chronic atrophic gastritis human_phenotype HP:0002582 Atrophy of the gastric mucosa is the endpoint of chronic processes, such as chronic gastritis associated with Helicobacter pylori (H. pylori) infection, other unidentified environmental factors, and autoimmunity directed against gastric glandular cells. Atrophic gastritis HP:0002582 Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. PMID:21483628 https://orcid.org/0000-0002-0736-9199 Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. SNOMEDCT_US:64226004 UMLS:C0009319 human_phenotype HP:0002583 Colitis HP:0002583 Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. https://orcid.org/0009-0006-4530-3154 Bleeding from the intestines. SNOMEDCT_US:712510007 UMLS:C0267373 Intestinal bleeding Intestinal haemorrhage Intestinal hemorrhage human_phenotype HP:0002584 Intestinal bleeding HP:0002584 Bleeding from the intestines. https://orcid.org/0000-0003-2945-4463 Intestinal bleeding Intestinal haemorrhage An abnormality of the peritoneum. UMLS:C4025698 Abnormality of the peritoneum human_phenotype HP:0002585 The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. Abnormal peritoneum morphology HP:0002585 An abnormality of the peritoneum. https://orcid.org/0000-0002-0736-9199 Inflammation of the peritoneum. HP:0100591 SNOMEDCT_US:48661000 UMLS:C0031154 Inflammation of the peritoneum human_phenotype HP:0002586 Peritonitis HP:0002586 Inflammation of the peritoneum. https://orcid.org/0000-0002-0736-9199 Vomiting that ejects the gastric contents with great force. SNOMEDCT_US:8579004 UMLS:C0221151 Projectile vomiting human_phenotype HP:0002587 Projectile vomiting HP:0002587 Vomiting that ejects the gastric contents with great force. https://orcid.org/0000-0002-0736-9199 Projectile vomiting An erosion of the mucous membrane in a portion of the duodenum. MEDDRA:10013836 SNOMEDCT_US:367474008 SNOMEDCT_US:51868009 UMLS:C0013295 human_phenotype HP:0002588 Duodenal ulcer HP:0002588 An erosion of the mucous membrane in a portion of the duodenum. https://orcid.org/0000-0002-0736-9199 MEDDRA:10013836 Duodenal ulcer UMLS:C4025697 GI atresia human_phenotype HP:0002589 Gastrointestinal atresia HP:0002589 GI atresia SNOMEDCT_US:55525008 UMLS:C0030446 human_phenotype HP:0002590 Paralytic ileus HP:0002590 A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. HP:0000724 HP:0002042 SNOMEDCT_US:267023007 SNOMEDCT_US:58424009 SNOMEDCT_US:72405004 UMLS:C0020505 UMLS:C0232461 Hyperphagia Voracious appetite human_phenotype Increased appetite HP:0002591 Polyphagia HP:0002591 A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. https://orcid.org/0000-0002-0736-9199 Voracious appetite Increased appetite An ulcer, that is, an erosion of an area of the gastric mucous membrane. MEDDRA:10017822 SNOMEDCT_US:397825006 UMLS:C0038358 Stomach ulcer human_phenotype HP:0002592 The presence of a mucosal erosion equal to or greater than 0.5 cm. Gastric ulcer HP:0002592 An ulcer, that is, an erosion of an area of the gastric mucous membrane. https://orcid.org/0000-0002-0736-9199 MEDDRA:10017822 Gastric ulcer Stomach ulcer Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. SNOMEDCT_US:197260007 UMLS:C0024215 human_phenotype HP:0002593 Intestinal lymphangiectasia HP:0002593 Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. https://orcid.org/0000-0002-0736-9199 Hypoplasia of the pancreas. HP:0005221 SNOMEDCT_US:68591005 UMLS:C0266267 Hypoplastic pancreas Underdeveloped pancreas human_phenotype HP:0002594 Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. Pancreatic hypoplasia HP:0002594 Hypoplasia of the pancreas. https://orcid.org/0000-0002-0736-9199 Underdeveloped pancreas https://orcid.org/0000-0001-5208-3432 Acute obstruction of the intestines preventing passage of the contents of the intestines. MEDDRA:10021328 UMLS:C1258215 Gastrointestinal atony human_phenotype HP:0002595 Ileus HP:0002595 Acute obstruction of the intestines preventing passage of the contents of the intestines. https://orcid.org/0009-0006-4530-3154 MEDDRA:10021328 Ileus Gastrointestinal atony https://orcid.org/0000-0001-5208-3432 true HP:0002596 An abnormality of the vasculature. UMLS:C0241657 Abnormality of blood vessels Abnormality of the vasculature Vascular abnormalities human_phenotype HP:0002597 Abnormality of the vasculature HP:0002597 An abnormality of the vasculature. https://orcid.org/0000-0002-0736-9199 Abnormality of blood vessels https://orcid.org/0000-0001-5208-3432 Abnormality of the vasculature Vascular abnormalities true HP:0002598 A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. UMLS:C1608410 human_phenotype HP:0002599 Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see PMID:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. Head titubation HP:0002599 A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. https://orcid.org/0000-0002-0736-9199 Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. HP:0006861 UMLS:C1834696 Hyporeflexia in lower limbs Hyporeflexia of the lower limbs Hyporeflexia, lower limbs Hyporeflexia/areflexia in lower limbs human_phenotype HP:0002600 Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. Hyporeflexia of lower limbs HP:0002600 Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. https://orcid.org/0000-0002-0736-9199 UMLS:C4025696 human_phenotype HP:0002601 Paresis of extensor muscles of the big toe HP:0002601 true HP:0002602 true HP:0002603 Telangiectasia affecting the gastrointestinal tract. UMLS:C1619711 GI telangiectasia Small, enlarged blood vessels near skin human_phenotype HP:0002604 Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. Gastrointestinal telangiectasia HP:0002604 Telangiectasia affecting the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 GI telangiectasia Small, enlarged blood vessels near skin https://orcid.org/0000-0002-6548-5200 The presence of cell death (necrosis) affecting the liver. 2008-02-20T11:32:00Z SNOMEDCT_US:87248009 UMLS:C0151798 human_phenotype HP:0002605 Hepatic necrosis HP:0002605 The presence of cell death (necrosis) affecting the liver. https://orcid.org/0000-0002-0736-9199 true HP:0002606 Involuntary fecal soiling in adults and children who have usually already been toilet trained. HP:0007147 SNOMEDCT_US:72042002 UMLS:C0015732 Anal incontinence Faecal incontinence Fecal incontinence Loss of bowel control human_phenotype HP:0002607 Bowel incontinence HP:0002607 Involuntary fecal soiling in adults and children who have usually already been toilet trained. https://orcid.org/0009-0006-4530-3154 Faecal incontinence Loss of bowel control https://orcid.org/0000-0001-5208-3432 Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. SNOMEDCT_US:396331005 UMLS:C0007570 Celiac disease Celiac sprue Coeliac disease Coeliac sprue human_phenotype HP:0002608 Celiac disease HP:0002608 Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. PMID:23681421 https://orcid.org/0000-0002-0736-9199 Celiac disease Coeliac disease Coeliac sprue true HP:0002609 true HP:0002610 UMLS:C0860204 human_phenotype HP:0002611 Cholestatic liver disease HP:0002611 The presence of fibrosis of that part of the liver with congenital onset. SNOMEDCT_US:79607001 UMLS:C0009714 Congenital liver fibrosis Excessive buildup of connective tissue and scarring of liver at birth human_phenotype HP:0002612 Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). Congenital hepatic fibrosis HP:0002612 The presence of fibrosis of that part of the liver with congenital onset. https://orcid.org/0000-0002-0736-9199 Excessive buildup of connective tissue and scarring of liver at birth https://orcid.org/0000-0002-6548-5200 Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. SNOMEDCT_US:1761006 SNOMEDCT_US:31712002 UMLS:C0008312 UMLS:C0023892 human_phenotype Primary biliary cirrhosis HP:0002613 Biliary cirrhosis HP:0002613 Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. https://orcid.org/0000-0002-0736-9199 A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. UMLS:C0546389 human_phenotype HP:0002614 Hepatic periportal necrosis HP:0002614 A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. https://orcid.org/0000-0002-0736-9199 Low Blood Pressure, vascular hypotension. HP:0005127 HP:0006701 SNOMEDCT_US:45007003 UMLS:C0020649 Arterial hypotension Low blood pressure human_phenotype HP:0002615 Hypotension HP:0002615 Low Blood Pressure, vascular hypotension. https://orcid.org/0000-0002-0736-9199 Low blood pressure An abnormal localized widening (dilatation) of the aortic root. HP:0002631 HP:0004750 HP:0005125 Aortic root dilatation SNOMEDCT_US:251036003 UMLS:C0238669 Bulge in wall of root of large artery that carries blood away from heart Enlarged aortic root Increased aortic root diameter human_phenotype HP:0002616 Aortic root aneurysm HP:0002616 Bulge in wall of root of large artery that carries blood away from heart https://orcid.org/0000-0002-6548-5200 Enlarged aortic root An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Fyler:2399 SNOMEDCT_US:432119003 SNOMEDCT_US:85659009 UMLS:C0002940 UMLS:C4020848 Aneurysmal dilatation Wider than typical opening or gap Aneurysm Aneurysms human_phenotype Aneurysmal disease HP:0002617 Aneurysm is considered a severe form of dilatation. Vascular dilatation HP:0002617 An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). PMID:30225143 https://orcid.org/0000-0002-0736-9199 Aneurysmal dilatation https://orcid.org/0000-0001-5208-3432 Wider than typical opening or gap https://orcid.org/0000-0002-6548-5200 Aneurysm Aneurysms https://orcid.org/0000-0002-5316-1399 Aneurysmal disease true HP:0002618 Enlarged and tortuous veins. SNOMEDCT_US:128060009 SNOMEDCT_US:12856003 SNOMEDCT_US:399989005 UMLS:C0042345 human_phenotype HP:0002619 Varicose veins HP:0002619 Enlarged and tortuous veins. https://orcid.org/0000-0002-0736-9199 true HP:0002620 A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Plaque build-up in arteries SNOMEDCT_US:38716007 UMLS:C0004153 UMLS:C4280569 Atherosclerotic cardiovascular disease Narrowing and hardening of arteries human_phenotype HP:0002621 Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. Atherosclerosis HP:0002621 A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. PMID:31420554 https://orcid.org/0000-0002-0736-9199 Plaque build-up in arteries https://orcid.org/0000-0001-5208-3432 Atherosclerotic cardiovascular disease http://www.mayoclinic.org/diseases-conditions/arteriosclerosis-atherosclerosis/basics/definition/con-20026972?utm_source=google&utm_medium=abstract&utm_content=atherosclerosis&utm_campaign=knowledge-panel https://orcid.org/0000-0001-5208-3432 Narrowing and hardening of arteries https://orcid.org/0000-0002-6548-5200 HP:0002647 human_phenotype HP:0002622 obsolete Dissecting aortic dilatation true HP:0002622 An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. Fyler:1432 SNOMEDCT_US:63934006 UMLS:C0011818 UMLS:C0265886 Dextroposition of aorta Overriding aortic valve human_phenotype HP:0002623 Overriding aorta HP:0002623 An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. https://orcid.org/0000-0002-0736-9199 An anomaly of vein. UMLS:C0241665 Abnormal vein Venous abnormality human_phenotype HP:0002624 Abnormal venous morphology HP:0002624 An anomaly of vein. https://orcid.org/0000-0002-0736-9199 Abnormal vein https://orcid.org/0000-0001-5208-3432 Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. SNOMEDCT_US:128053003 UMLS:C0149871 Blood clot in a deep vein Deep vein thrombosis Multiple deep venous thrombosis human_phenotype HP:0002625 Deep venous thrombosis HP:0002625 Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. https://orcid.org/0000-0002-0736-9199 Blood clot in a deep vein https://orcid.org/0000-0001-6908-9849 Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. UMLS:C1857692 Venous varicosities of coeliac and mesenteric vessels human_phenotype HP:0002626 Venous varicosities of celiac and mesenteric vessels HP:0002626 Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. https://orcid.org/0000-0002-0736-9199 Venous varicosities of coeliac and mesenteric vessels The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. UMLS:C4025695 human_phenotype HP:0002627 Right aortic arch with mirror image branching HP:0002627 The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0009-0006-4530-3154 true HP:0002628 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. UMLS:C0744321 GI arteriovenous malformation human_phenotype HP:0002629 Gastrointestinal arteriovenous malformation HP:0002629 GI arteriovenous malformation Abnormality of the absorption of fat from the gastrointestinal tract. SNOMEDCT_US:197494007 UMLS:C0554103 human_phenotype HP:0002630 Fat malabsorption HP:0002630 Abnormality of the absorption of fat from the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 HP:0002616 human_phenotype HP:0002631 obsolete Dilatation of ascending aorta true HP:0002631 UMLS:C1866500 Low-to-normal BP Low-to-normal blood pressure human_phenotype HP:0002632 Low-to-normal blood pressure HP:0002632 Low-to-normal BP Low-to-normal blood pressure Inflammation of blood vessel. SNOMEDCT_US:31996006 UMLS:C0042384 Angiitis Inflammation of blood vessel human_phenotype HP:0002633 Vasculitis HP:0002633 Inflammation of blood vessel. https://orcid.org/0000-0002-0736-9199 Angiitis https://orcid.org/0000-0001-5208-3432 Inflammation of blood vessel https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. Hardened artery wall SNOMEDCT_US:107671003 SNOMEDCT_US:28960008 SNOMEDCT_US:72092001 UMLS:C0003850 UMLS:C4280568 human_phenotype HP:0002634 Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. Arteriosclerosis HP:0002634 Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. https://orcid.org/0000-0002-0736-9199 Hardened artery wall https://orcid.org/0000-0001-5208-3432 In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. SNOMEDCT_US:38716007 UMLS:C0004153 human_phenotype Atheromatosis HP:0002635 Type IV atherosclerotic lesion HP:0002635 In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. PMID:7648691 Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. UMLS:C4025694 Aneurysm of an abdominal artery human_phenotype HP:0002636 Aneurysm is considered a severe form of dilatation. Dilatation of an abdominal artery HP:0002636 Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta. https://orcid.org/0000-0002-0736-9199 Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue. SNOMEDCT_US:287731003 SNOMEDCT_US:389100007 UMLS:C0007786 UMLS:C0917798 Brain ischemia Cerebrovascular ischemia Disruption of blood oxygen supply to brain human_phenotype HP:0002637 Cerebral ischemia HP:0002637 Brain ischemia https://orcid.org/0000-0001-5208-3432 Cerebrovascular ischemia https://orcid.org/0000-0001-5208-3432 Disruption of blood oxygen supply to brain https://orcid.org/0000-0002-6548-5200 Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). SNOMEDCT_US:2477008 UMLS:C1510431 human_phenotype HP:0002638 Superficial thrombophlebitis HP:0002638 Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). https://orcid.org/0000-0002-0736-9199 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. SNOMEDCT_US:82385007 UMLS:C0856761 human_phenotype HP:0002639 Budd-Chiari syndrome HP:0002639 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. PMID:16265183 https://orcid.org/0000-0002-0736-9199 A type of hypertension associated with pheochromocytoma. UMLS:C4025693 human_phenotype HP:0002640 Hypertension associated with pheochromocytoma HP:0002640 A type of hypertension associated with pheochromocytoma. https://orcid.org/0000-0002-0736-9199 UMLS:C1849749 Peripheral blood clot human_phenotype HP:0002641 Peripheral thrombosis HP:0002641 Peripheral blood clot https://orcid.org/0000-0001-5208-3432 UMLS:C1857693 Arteriovenous fistulas of coeliac and mesenteric vessels human_phenotype HP:0002642 Arteriovenous fistulas of celiac and mesenteric vessels HP:0002642 Arteriovenous fistulas of coeliac and mesenteric vessels Respiratory difficulty as newborn. UMLS:C0852283 Infantile respiratory distress Neonatal respiratory distress Newborn respiratory distress Respiratory distress, neonatal human_phenotype HP:0002643 Neonatal respiratory distress HP:0002643 Respiratory difficulty as newborn. https://orcid.org/0000-0002-0736-9199 Infantile respiratory distress Neonatal respiratory distress Newborn respiratory distress Respiratory distress, neonatal An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. UMLS:C4020847 Abnormal shape of pelvic girdle bone Abnormality of pelvic girdle bone morphology human_phenotype Abnormality of the pelvic girdle HP:0002644 Abnormal pelvic girdle bone morphology HP:0002644 An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. https://orcid.org/0000-0002-0736-9199 Abnormal shape of pelvic girdle bone https://orcid.org/0000-0001-5208-3432 The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. SNOMEDCT_US:113194005 UMLS:C0222716 Extra bones within cranial sutures Intra sutural bones Intrasutural bones Islands of bone within cranial sutures human_phenotype HP:0002645 Irregular, isolated bones in the lambdoidal suture or at the fontanelles. Wormian bones HP:0002645 The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. https://orcid.org/0000-0002-0736-9199 Extra bones within cranial sutures https://orcid.org/0000-0001-5889-4463 Intra sutural bones https://orcid.org/0000-0001-5889-4463 Intrasutural bones https://orcid.org/0000-0001-5889-4463 Islands of bone within cranial sutures https://orcid.org/0000-0001-5889-4463 true HP:0002646 Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. HP:0002622 SNOMEDCT_US:308546005 UMLS:C0340643 Tear in inner wall of large artery that carries blood away from heart human_phenotype HP:0002647 Aortic dissection HP:0002647 Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. https://orcid.org/0000-0002-0736-9199 Tear in inner wall of large artery that carries blood away from heart https://orcid.org/0000-0002-6548-5200 HP:0002683 human_phenotype HP:0002648 obsolete Abnormality of calvarial morphology true HP:0002648 true HP:0002649 The presence of an abnormal lateral curvature of the spine. HP:0002770 HP:0003303 HP:0003317 HP:0003415 Fyler:4160 SNOMEDCT_US:111266001 SNOMEDCT_US:64217002 UMLS:C0037932 UMLS:C0700208 human_phenotype Cobb angle greater than ten degrees HP:0002650 Scoliosis HP:0002650 The presence of an abnormal lateral curvature of the spine. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:254062008 UMLS:C0432211 human_phenotype HP:0002651 Spondyloepimetaphyseal dysplasia HP:0002651 A general term describing features characterized by abnormal development of bones and connective tissues. HP:0005685 Abnormal skeletal development SNOMEDCT_US:105985007 SNOMEDCT_US:240190009 UMLS:C0029422 UMLS:C4280567 human_phenotype HP:0002652 The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. Skeletal dysplasia HP:0002652 A general term describing features characterized by abnormal development of bones and connective tissues. https://orcid.org/0000-0002-0736-9199 Abnormal skeletal development https://orcid.org/0000-0001-5208-3432 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. SNOMEDCT_US:12584003 UMLS:C0151825 Bone pain human_phenotype HP:0002653 Bone pain HP:0002653 Bone pain SNOMEDCT_US:59708000 UMLS:C0026760 human_phenotype HP:0002654 Multiple epiphyseal dysplasia HP:0002654 A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). HP:0002776 HP:0005893 UMLS:C0038015 human_phenotype HP:0002655 Spondyloepiphyseal dysplasia HP:0002655 A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). https://orcid.org/0000-0002-0736-9199 Abnormal development of end part of bone SNOMEDCT_US:254080004 UMLS:C0392476 UMLS:C4280566 Abnormal development of the ends of long bones in arms and legs human_phenotype HP:0002656 Epiphyseal dysplasia HP:0002656 Abnormal development of end part of bone https://orcid.org/0000-0001-5208-3432 Abnormal development of the ends of long bones in arms and legs https://orcid.org/0000-0002-6548-5200 SNOMEDCT_US:702350003 UMLS:C0700635 human_phenotype HP:0002657 Spondylometaphyseal dysplasia HP:0002657 true HP:0002658 An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. HP:0002662 HP:0002798 HP:0005710 HP:0005783 HP:0005931 UMLS:C1390474 Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased susceptibility to fractures Increased tendency to fractures human_phenotype HP:0002659 This is a bundled term that will be made obsolete. Increased susceptibility to fractures HP:0002659 An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. https://orcid.org/0009-0006-4530-3154 Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased susceptibility to fractures Increased tendency to fractures true HP:0002660 An increased tendency to fractures following trauma, with fractures occurring without pain. UMLS:C1837602 Painless fractures due to injury human_phenotype HP:0002661 Painless fractures due to injury HP:0002661 An increased tendency to fractures following trauma, with fractures occurring without pain. https://orcid.org/0000-0002-0736-9199 Painless fractures due to injury true HP:0002662 HP:0005862 UMLS:C1865200 UMLS:C4280565 Delayed epiphyseal maturation Delayed opacification of the epiphyses Epiphyseal ossification delay human_phenotype Delayed maturation of end part of long bone HP:0002663 Delayed epiphyseal ossification HP:0002663 Delayed maturation of end part of long bone https://orcid.org/0000-0001-5208-3432 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). HP:0003008 HP:0006741 Abnormal tissue mass NCIT:C3262 SNOMEDCT_US:108369006 SNOMEDCT_US:363346000 UMLS:C0006826 UMLS:C0027651 Neoplasia Oncological abnormality Tumor Tumour human_phenotype Cancer Oncology HP:0002664 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. Neoplasm HP:0002664 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). https://orcid.org/0000-0002-0736-9199 Abnormal tissue mass https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Cancer Oncology https://orcid.org/0000-0002-0736-9199 A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. NCIT:C7065 SNOMEDCT_US:115244002 SNOMEDCT_US:118600007 SNOMEDCT_US:188676008 SNOMEDCT_US:21964009 UMLS:C0024299 Cancer of lymphatic system human_phenotype HP:0002665 Lymphoma HP:0002665 A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. https://orcid.org/0000-0002-0736-9199 Cancer of lymphatic system https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. NCIT:C3326 SNOMEDCT_US:302835009 SNOMEDCT_US:399343007 SNOMEDCT_US:85583005 UMLS:C0031511 Chromaffin tumors Chromaffin tumours human_phenotype HP:0002666 Pheochromocytoma HP:0002666 Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. https://orcid.org/0000-0002-0736-9199 Chromaffin tumors https://orcid.org/0000-0001-5208-3432 Chromaffin tumours The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. HP:0000115 NCIT:C40407 SNOMEDCT_US:25081006 SNOMEDCT_US:302849000 UMLS:C0027708 Wilms tumor Wilms tumour human_phenotype HP:0002667 Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblastoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. Nephroblastoma HP:0002667 The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. https://orcid.org/0000-0002-0736-9199 Wilms tumour A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. HP:0002670 HP:0003004 NCIT:C3308 SNOMEDCT_US:127027008 SNOMEDCT_US:253029009 SNOMEDCT_US:302833002 SNOMEDCT_US:72787006 SNOMEDCT_US:803009 UMLS:C0030421 Carotid body tumors Carotid body tumours Paragangliomas human_phenotype HP:0002668 Paraganglioma HP:0002668 A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. https://orcid.org/0000-0002-0736-9199 Carotid body tumours Paragangliomas https://orcid.org/0000-0002-5316-1399 A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. NCIT:C9145 SNOMEDCT_US:21708004 SNOMEDCT_US:307576001 UMLS:C0029463 Bone cell cancer Osteogenic sarcoma human_phenotype HP:0002669 Osteosarcoma HP:0002669 A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. https://orcid.org/0000-0002-0736-9199 Bone cell cancer https://orcid.org/0000-0002-6548-5200 true HP:0002670 The presence of a basal cell carcinoma of the skin. NCIT:C2921 SNOMEDCT_US:1338007 SNOMEDCT_US:254701007 SNOMEDCT_US:275265005 UMLS:C0007117 UMLS:C1862314 Basal cell carcinomas Basal cell epithelioma Basal cell nevus Basalioma human_phenotype HP:0002671 A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. Basal cell carcinoma HP:0002671 The presence of a basal cell carcinoma of the skin. https://orcid.org/0009-0006-4530-3154 UMLS:C0151544 GI carcinoma human_phenotype HP:0002672 Gastrointestinal carcinoma HP:0002672 GI carcinoma Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). SNOMEDCT_US:299236004 UMLS:C0239137 UMLS:C3549698 Valgus hip human_phenotype Coxa valga deformity HP:0002673 Coxa valga HP:0002673 Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-6670-9157 Coxa valga deformity https://orcid.org/0000-0002-5316-1399 true HP:0002674 true HP:0002675 Trilobar skull configuration when viewed from the front or behind. HP:0004477 HP:0005459 Cloverleaf cranium shape Cloverleaf skull shape Trilobar cranium shape Trilobar skull shape UMLS:C1860050 UMLS:C4280564 Kleeblattschaedel human_phenotype HP:0002676 A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. See figure 3 in PMID:29089832. Cloverleaf skull HP:0002676 Trilobar skull configuration when viewed from the front or behind. PMID:19125436 PMID:29089832 Cloverleaf cranium shape https://orcid.org/0000-0001-5889-4463 Cloverleaf skull shape https://orcid.org/0000-0001-5889-4463 Trilobar cranium shape https://orcid.org/0000-0001-5889-4463 Trilobar skull shape https://orcid.org/0000-0001-5889-4463 An abnormal narrowing of the foramen magnum. HP:0005468 SNOMEDCT_US:444879009 UMLS:C1535953 UMLS:C1861217 UMLS:C4072838 Foramen magnum stenosis Little foramen magnum Narrow foramen magnum Hypoplasia of foramen magnum Stenosis of foramen magnum human_phenotype HP:0002677 The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. Small foramen magnum HP:0002677 An abnormal narrowing of the foramen magnum. https://orcid.org/0000-0002-0736-9199 Little foramen magnum https://orcid.org/0000-0001-5889-4463 Narrow foramen magnum https://orcid.org/0000-0001-5889-4463 Hypoplasia of foramen magnum https://orcid.org/0000-0001-5889-4463 Stenosis of foramen magnum https://orcid.org/0000-0001-5889-4463 Abnormality of skull shape Unequal skull shape Uneven skull shape SNOMEDCT_US:248372000 UMLS:C0424690 UMLS:C4280562 UMLS:C4280563 Asymmetry of skull Skull asymmetry human_phenotype Malformation of skull shape HP:0002678 Skull asymmetry HP:0002678 Abnormality of skull shape https://orcid.org/0000-0001-5889-4463 Unequal skull shape https://orcid.org/0000-0001-5889-4463 Uneven skull shape https://orcid.org/0000-0001-5889-4463 Asymmetry of skull https://orcid.org/0000-0001-5889-4463 Skull asymmetry Malformation of skull shape https://orcid.org/0000-0001-5889-4463 Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. UMLS:C4021754 UMLS:C4072839 Abnormality of the sella turcica Anomaly of the sella turcica Abnormality of the hypophysial fossa Abnormality of the pituitary fossa Anomaly of the hypophysial fossa Anomaly of the pituitary fossa human_phenotype HP:0002679 Abnormal sella turcica morphology HP:0002679 Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. https://orcid.org/0000-0002-0736-9199 Anomaly of the sella turcica https://orcid.org/0000-0001-5889-4463 Abnormality of the hypophysial fossa https://orcid.org/0000-0001-5889-4463 Abnormality of the pituitary fossa https://orcid.org/0000-0001-5889-4463 Anomaly of the hypophysial fossa https://orcid.org/0000-0001-5889-4463 Anomaly of the pituitary fossa https://orcid.org/0000-0001-5889-4463 A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. UMLS:C1854718 UMLS:C4072841 UMLS:C4072842 Hour glass shaped hypophysial fossa Hour glass shaped pituitary fossa Hour glass shaped sella turcica J-shaped sella Omega shaped sella turcica J-shaped hypophysial fossa J-shaped pituitary fossa Omega shaped hypophysial fossa Omega shaped pituitary fossa human_phenotype HP:0002680 J-shaped sella turcica HP:0002680 A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. https://orcid.org/0000-0002-0736-9199 Hour glass shaped hypophysial fossa https://orcid.org/0000-0001-5889-4463 Hour glass shaped pituitary fossa https://orcid.org/0000-0001-5889-4463 Hour glass shaped sella turcica https://orcid.org/0000-0001-5889-4463 J-shaped sella https://orcid.org/0000-0001-5889-4463 Omega shaped sella turcica https://orcid.org/0000-0001-5889-4463 J-shaped hypophysial fossa https://orcid.org/0000-0001-5889-4463 J-shaped pituitary fossa https://orcid.org/0000-0001-5889-4463 Omega shaped hypophysial fossa https://orcid.org/0000-0001-5889-4463 Omega shaped pituitary fossa https://orcid.org/0000-0001-5889-4463 UMLS:C1846437 Abnormal shape of hypophysial fossa Abnormal shape of pituitary fossa Abnormal shape of sella turcica Deformity of hypophysial fossa Deformity of pituitary fossa Malformation of hypophysial fossa Malformation of pituitary fossa Malformation of sella turcica human_phenotype HP:0002681 Deformed sella turcica HP:0002681 Abnormal shape of hypophysial fossa https://orcid.org/0000-0001-5889-4463 Abnormal shape of pituitary fossa https://orcid.org/0000-0001-5889-4463 Abnormal shape of sella turcica https://orcid.org/0000-0001-5889-4463 Deformity of hypophysial fossa https://orcid.org/0000-0001-5889-4463 Deformity of pituitary fossa https://orcid.org/0000-0001-5889-4463 Malformation of hypophysial fossa https://orcid.org/0000-0001-5889-4463 Malformation of pituitary fossa https://orcid.org/0000-0001-5889-4463 Malformation of sella turcica https://orcid.org/0000-0001-5889-4463 Increased width of the skull. SNOMEDCT_US:248374004 UMLS:C0424693 Broad cranium Broad skull Increased width of cranium Increased width of skull Wide cranium Wide skull human_phenotype HP:0002682 Broad skull HP:0002682 Increased width of the skull. https://orcid.org/0000-0002-0736-9199 Broad cranium https://orcid.org/0000-0001-5889-4463 Broad skull Increased width of cranium https://orcid.org/0000-0001-5889-4463 Increased width of skull https://orcid.org/0000-0001-5889-4463 Wide cranium https://orcid.org/0000-0001-5889-4463 Wide skull https://orcid.org/0000-0001-5889-4463 Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. HP:0002648 Abnormality of cranium UMLS:C4025691 UMLS:C4280561 Abnormality of calvarium Abnormality of cranial vault Abnormality of the calvaria Abnormality of the shape of calvarium Abnormality of the skull cap Abnormality of the skullcap human_phenotype HP:0002683 The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. Abnormal calvaria morphology HP:0002683 Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. https://orcid.org/0000-0002-0736-9199 Abnormality of cranium https://orcid.org/0000-0001-5889-4463 Abnormality of calvarium https://orcid.org/0000-0001-5889-4463 Abnormality of cranial vault https://orcid.org/0000-0001-5889-4463 Abnormality of the skull cap https://orcid.org/0000-0001-5889-4463 Abnormality of the skullcap https://orcid.org/0000-0001-5208-3432 The presence of an abnormally thick calvaria. Increased thickness of cranium UMLS:C1858452 UMLS:C4280560 Calvarial thickening Calvarium thickened Increased calvarial thickness Increased thickness of calvaria Increased thickness of calvarium Increased thickness of cranial vault Increased thickness of skull cap Thick calvaria Thick calvarium Thickened calvarium Thickened cranial vault Thickened cranium Thickened skull cap Thickening of the calvaria human_phenotype HP:0002684 Thickened calvaria HP:0002684 The presence of an abnormally thick calvaria. https://orcid.org/0000-0002-0736-9199 Increased thickness of cranium https://orcid.org/0000-0001-5889-4463 Increased thickness of calvaria https://orcid.org/0000-0001-5889-4463 Increased thickness of calvarium https://orcid.org/0000-0001-5889-4463 Increased thickness of cranial vault https://orcid.org/0000-0001-5889-4463 Increased thickness of skull cap https://orcid.org/0000-0001-5889-4463 Thickened skull cap https://orcid.org/0000-0001-5889-4463 true HP:0002685 Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product. UMLS:C4025690 Prenatal maternal abnormality human_phenotype Maternal health problem HP:0002686 Pregnancy history HP:0002686 Maternal health problem An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. UMLS:C4025689 Abnormality of sinus frontalis Abnormality of the forehead sinus human_phenotype HP:0002687 Abnormality of frontal sinus HP:0002687 An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. https://orcid.org/0000-0001-5889-4463 Abnormality of sinus frontalis https://orcid.org/0000-0001-5889-4463 Abnormality of the forehead sinus https://orcid.org/0000-0001-5889-4463 Aplasia of frontal sinus. HP:0005452 HP:0005475 UMLS:C1855669 UMLS:C4280559 Absence of frontal sinuses Absent frontal sinus Missing frontal sinus Aplasia of frontal sinus Aplasia sinus frontalis human_phenotype HP:0002688 Absent frontal sinuses HP:0002688 Aplasia of frontal sinus. https://orcid.org/0000-0002-0736-9199 Missing frontal sinus https://orcid.org/0000-0001-5889-4463 Aplasia of frontal sinus https://orcid.org/0000-0001-5889-4463 Aplasia sinus frontalis https://orcid.org/0000-0001-5889-4463 Aplasia of the paranasal sinuses. Missing sinuses UMLS:C1857131 UMLS:C3804986 UMLS:C4072844 Absence of paranasal sinuses Missing paranasal sinuses Aplasia of paranasal sinuses human_phenotype HP:0002689 Absent paranasal sinuses HP:0002689 Aplasia of the paranasal sinuses. https://orcid.org/0000-0002-0736-9199 Missing sinuses https://orcid.org/0000-0001-5889-4463 Absence of paranasal sinuses https://orcid.org/0000-0001-5889-4463 Missing paranasal sinuses https://orcid.org/0000-0001-5889-4463 Aplasia of paranasal sinuses https://orcid.org/0000-0001-5889-4463 An abnormal enlargement of the sella turcica. HP:0005444 UMLS:C1843677 UMLS:C4072845 UMLS:C4072846 Big sella turcica Enlarged sella turcica Hyperplasia of sella turcica Prominent sella turcica Hyperplasia of hypophysial fossa Hyperplasia of pituitary fossa Large hypophysial fossa Large pituitary fossa human_phenotype HP:0002690 Large sella turcica HP:0002690 An abnormal enlargement of the sella turcica. https://orcid.org/0000-0002-0736-9199 Big sella turcica https://orcid.org/0000-0001-5889-4463 Hyperplasia of sella turcica https://orcid.org/0000-0001-5889-4463 Hyperplasia of hypophysial fossa https://orcid.org/0000-0001-5889-4463 Hyperplasia of pituitary fossa https://orcid.org/0000-0001-5889-4463 Large hypophysial fossa https://orcid.org/0000-0001-5889-4463 Large pituitary fossa https://orcid.org/0000-0001-5889-4463 A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. Flattening of the skull base SNOMEDCT_US:86587003 UMLS:C0032209 Increased basal angle of skull base Obtuse basal angle of skull base human_phenotype HP:0002691 Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. Platybasia HP:0002691 A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. https://orcid.org/0000-0002-0736-9199 Flattening of the skull base https://orcid.org/0000-0001-5889-4463 Increased basal angle of skull base https://orcid.org/0000-0001-5889-4463 Obtuse basal angle of skull base https://orcid.org/0000-0001-5889-4463 Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the center of the pituitary fossa line joining the anterior border of the foramen magnum with the center of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees. https://orcid.org/0000-0001-5889-4463 Hypoplasia of facial skeleton Small facial bones Small facial skeleton Underdevelopment of facial bones Underdevelopment of facial skeleton UMLS:C1846438 UMLS:C4229090 UMLS:C4280268 UMLS:C4280557 UMLS:C4280558 Decreased size of facial bones Decreased size of facial skeleton human_phenotype Flattening of facial bones Flattening of facial skeleton Hypotrophic facial bones Hypotrophic facial skeleton HP:0002692 Hypoplastic facial bones HP:0002692 Hypoplasia of facial skeleton https://orcid.org/0000-0001-5889-4463 Small facial bones https://orcid.org/0000-0001-5889-4463 Small facial skeleton https://orcid.org/0000-0001-5889-4463 Underdevelopment of facial bones https://orcid.org/0000-0001-5889-4463 Underdevelopment of facial skeleton https://orcid.org/0000-0001-5889-4463 Decreased size of facial bones https://orcid.org/0000-0001-5889-4463 Decreased size of facial skeleton https://orcid.org/0000-0001-5889-4463 Flattening of facial bones https://orcid.org/0000-0001-5889-4463 Flattening of facial skeleton https://orcid.org/0000-0001-5889-4463 Hypotrophic facial bones https://orcid.org/0000-0001-5889-4463 Hypotrophic facial skeleton https://orcid.org/0000-0001-5889-4463 An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. UMLS:C4025688 Abnormality of cranial base Abnormality of the skull base human_phenotype HP:0002693 Abnormal skull base morphology HP:0002693 An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. https://orcid.org/0000-0002-0736-9199 Abnormality of cranial base https://orcid.org/0000-0001-5889-4463 Abnormality of the skull base Increased bone density of the skull base without significant changes in bony contour. HP:0005757 UMLS:C1851714 UMLS:C4072847 UMLS:C4072848 Dense bone of skull base Hyperossification of skull base Hyperostosis of skull base Marked sclerosis of skull base Sclerosis of cranial base Sclerosis of the skull base Sclerotic skull base HyperCalcification of skull base HyperMineralization of skull base human_phenotype HP:0002694 Sclerosis of skull base HP:0002694 Increased bone density of the skull base without significant changes in bony contour. https://orcid.org/0000-0002-0736-9199 Dense bone of skull base https://orcid.org/0000-0001-5889-4463 Hyperossification of skull base https://orcid.org/0000-0001-5889-4463 Hyperostosis of skull base https://orcid.org/0000-0001-5889-4463 Sclerosis of cranial base https://orcid.org/0000-0001-5889-4463 HyperCalcification of skull base https://orcid.org/0000-0001-5889-4463 HyperMineralization of skull base https://orcid.org/0000-0001-5889-4463 HP:0002697 human_phenotype HP:0002695 obsolete Symmetrical, oval parietal bone defects true HP:0002695 Any abnormality of the parietal bone of the skull. UMLS:C4021834 Abnormality of the parietal bone Abnormality of the parietal bone of skull human_phenotype HP:0002696 Abnormal parietal bone morphology HP:0002696 Any abnormality of the parietal bone of the skull. https://orcid.org/0000-0002-0736-9199 Abnormality of the parietal bone of skull https://orcid.org/0000-0001-5889-4463 The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. HP:0002695 SNOMEDCT_US:11240000 SNOMEDCT_US:29307005 UMLS:C0222706 UMLS:C4280556 Persistent foramina of the parietal bones Symmetrical, oval defects in the parietal bone Symmetrical, oval parietal bone defects human_phenotype Holes in parietal bones Openings in parietal bones HP:0002697 Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. Parietal foramina HP:0002697 The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. https://orcid.org/0000-0002-0736-9199 Persistent foramina of the parietal bones https://orcid.org/0000-0001-5889-4463 Holes in parietal bones https://orcid.org/0000-0001-5889-4463 Openings in parietal bones https://orcid.org/0000-0001-5889-4463 true HP:0002698 Any abnormality of the foramen magnum. UMLS:C4025687 Abnormality of the foramen magnum human_phenotype HP:0002699 The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Abnormal foramen magnum morphology HP:0002699 Any abnormality of the foramen magnum. https://orcid.org/0000-0002-0736-9199 An abnormal increase in the size of the foramen magnum. UMLS:C1844508 UMLS:C4073291 UMLS:C4280554 UMLS:C4280555 Big foramen magnum Dilation of foramen magnum Enlarged foramen magnum Wide foramen magnum Increased circumference of foramen magnum Increased diameter of foramen magnum human_phenotype HP:0002700 Large foramen magnum HP:0002700 An abnormal increase in the size of the foramen magnum. https://orcid.org/0000-0002-0736-9199 Big foramen magnum https://orcid.org/0000-0001-5889-4463 Dilation of foramen magnum https://orcid.org/0000-0001-5889-4463 Wide foramen magnum https://orcid.org/0000-0001-5889-4463 Increased circumference of foramen magnum https://orcid.org/0000-0001-5889-4463 Increased diameter of foramen magnum https://orcid.org/0000-0001-5889-4463 true HP:0002701 true HP:0002702 An abnormality of the process of ossification of the skull. 2008-02-28T11:53:00Z Abnormality of skull bone formation UMLS:C4025686 UMLS:C4280550 UMLS:C4280551 UMLS:C4280552 UMLS:C4280553 Abnormality of ossification of calvarium Abnormality of ossification of cranium human_phenotype Abnormality of bone calcification of calvarium Abnormality of bone calcification of cranium Abnormality of bone calcification of skull Abnormality of bone formation of calvarium Abnormality of bone formation of cranium Abnormality of bone mineralization of calvarium Abnormality of bone mineralization of cranium Abnormality of bone mineralization of skull HP:0002703 The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. Abnormality of skull ossification HP:0002703 An abnormality of the process of ossification of the skull. https://orcid.org/0000-0002-0736-9199 Abnormality of skull bone formation https://orcid.org/0000-0001-5889-4463 Abnormality of ossification of calvarium https://orcid.org/0000-0001-5889-4463 Abnormality of ossification of cranium https://orcid.org/0000-0001-5889-4463 Abnormality of bone calcification of calvarium https://orcid.org/0000-0001-5889-4463 Abnormality of bone calcification of cranium https://orcid.org/0000-0001-5889-4463 Abnormality of bone calcification of skull https://orcid.org/0000-0001-5889-4463 Abnormality of bone formation of calvarium https://orcid.org/0000-0001-5889-4463 Abnormality of bone formation of cranium https://orcid.org/0000-0001-5889-4463 Abnormality of bone mineralization of calvarium https://orcid.org/0000-0001-5889-4463 Abnormality of bone mineralization of cranium https://orcid.org/0000-0001-5889-4463 Abnormality of bone mineralization of skull https://orcid.org/0000-0001-5889-4463 true HP:0002704 The presence of a high and narrow palate. UMLS:C1837404 Gothic palate High narrow palate High vaulted palate High, narrow palate Narrow and high arched palate Narrow, high-arched palate Narrow, high-arched roof of mouth Narrow, highly arched palate Narrow, highly arched roof of mouth human_phenotype HP:0002705 High, narrow palate HP:0002705 The presence of a high and narrow palate. https://orcid.org/0000-0002-0736-9199 Gothic palate https://orcid.org/0000-0001-5889-4463 High vaulted palate https://orcid.org/0000-0001-5889-4463 High, narrow palate Narrow, high-arched roof of mouth https://orcid.org/0000-0001-5208-3432 Narrow, highly arched roof of mouth https://orcid.org/0000-0001-5208-3432 true HP:0002706 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. HP:0000229 UMLS:C1857699 UMLS:C4280267 Palatal angioectasia Palatal telangiectasia Palate telangiectases Palate teleangiectases Telangiectasia of the roof of the mouth human_phenotype Palatal spider veins Spider veins of the roof of the mouth HP:0002707 Palate telangiectasia HP:0002707 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. https://orcid.org/0000-0002-0736-9199 Palatal angioectasia https://orcid.org/0000-0001-5889-4463 Palatal telangiectasia https://orcid.org/0000-0001-5889-4463 Telangiectasia of the roof of the mouth https://orcid.org/0000-0001-5889-4463 Palatal spider veins https://orcid.org/0000-0001-5889-4463 Spider veins of the roof of the mouth https://orcid.org/0000-0001-5889-4463 Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. UMLS:C1845108 Prominent central palatal ridge Prominent central ridge on roof of the mouth Prominent medial palatal suture human_phenotype HP:0002708 Prominent median palatal raphe HP:0002708 Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. https://orcid.org/0000-0002-0736-9199 Prominent central palatal ridge https://orcid.org/0000-0001-5889-4463 Prominent central ridge on roof of the mouth https://orcid.org/0000-0001-5889-4463 Prominent medial palatal suture https://orcid.org/0000-0001-5889-4463 true HP:0002709 A depression located at an oral commissure. UMLS:C0399605 Commissural labial pits Commissural pit Lip pits at corners of the mouth Pits at the corners of the lips human_phenotype HP:0002710 Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. Commissural lip pit HP:0002710 A depression located at an oral commissure. PMID:19125428 https://orcid.org/0009-0006-4530-3154 Commissural labial pits https://orcid.org/0000-0001-5889-4463 Lip pits at corners of the mouth https://orcid.org/0000-0001-5889-4463 Pits at the corners of the lips https://orcid.org/0000-0001-5889-4463 Increased depth of the median tongue furrow. UMLS:C1845109 Deep central lingual furrow Deep central lingual groove Deep central tongue furrow Deep central tongue groove Deep median lingual furrow Deep median lingual groove Deep median tongue furrow Deep median tongue groove Exaggerated median lingual furrow human_phenotype HP:0002711 Exaggerated median tongue furrow HP:0002711 Increased depth of the median tongue furrow. https://orcid.org/0000-0002-0736-9199 Deep central lingual furrow https://orcid.org/0000-0001-5889-4463 Deep central lingual groove https://orcid.org/0000-0001-5889-4463 Deep central tongue furrow https://orcid.org/0000-0001-5889-4463 Deep central tongue groove https://orcid.org/0000-0001-5889-4463 Deep median lingual furrow https://orcid.org/0000-0001-5889-4463 Deep median lingual groove https://orcid.org/0000-0001-5889-4463 Deep median tongue furrow https://orcid.org/0000-0001-5889-4463 Deep median tongue groove https://orcid.org/0000-0001-5889-4463 Exaggerated median lingual furrow https://orcid.org/0000-0001-5889-4463 true HP:0002712 true HP:0002713 A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. HP:0000192 UMLS:C1866195 Downturned corners of mouth Downturned corners of the mouth Downturned mouth Downturned oral commisures human_phenotype HP:0002714 This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). Downturned corners of mouth HP:0002714 A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. PMID:19125428 https://orcid.org/0000-0002-0736-9199 Downturned corners of mouth Downturned corners of the mouth Downturned mouth Downturned oral commisures https://orcid.org/0000-0001-5889-4463 An abnormality of the immune system. HP:0003257 HP:0003346 HP:0010986 UMLS:C4021753 Abnormality of the immune system Immunological abnormality human_phenotype HP:0002715 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. Abnormality of the immune system HP:0002715 An abnormality of the immune system. https://orcid.org/0000-0002-0736-9199 Abnormality of the immune system Immunological abnormality Enlargement (swelling) of a lymph node. HP:0002735 SNOMEDCT_US:30746006 UMLS:C0497156 Lymph node hyperplasia Swollen lymph nodes human_phenotype HP:0002716 Lymphadenopathy HP:0002716 Enlargement (swelling) of a lymph node. https://orcid.org/0000-0002-0736-9199 Swollen lymph nodes 2008-02-25T10:41:00Z UMLS:C4025685 human_phenotype HP:0002717 Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. Adrenal overactivity HP:0002717 Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. HP:0005355 HP:0005361 HP:0005367 HP:0005391 HP:0005393 HP:0005410 SNOMEDCT_US:428875002 UMLS:C1844383 UMLS:C2748958 UMLS:C4020846 Bacterial infections, recurrent Frequent bacterial infections Frequent pyogenic infections Increased susceptibility to bacterial infections Recurrent bacterial infections Recurrent major bacterial infections Recurrent pyogenic infections Susceptibility to pyogenic infection human_phenotype Prone to bacterial infection HP:0002718 Recurrent bacterial infections HP:0002718 Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. https://orcid.org/0000-0002-0736-9199 Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent bacterial infections Recurrent major bacterial infections Prone to bacterial infection Increased susceptibility to infections as manifested by repeated bouts of infection. HP:0002957 HP:0002964 HP:0005405 UMLS:C0239998 Frequent infections Frequent, severe infections Increased frequency of infection Predisposition to infections Recurrent infections Susceptibility to infection infections, recurrent human_phenotype HP:0002719 Recurrent infections HP:0002719 Increased susceptibility to infections as manifested by repeated bouts of infection. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-5316-1399 Frequent infections Frequent, severe infections Increased frequency of infection Predisposition to infections Recurrent infections Susceptibility to infection infections, recurrent https://orcid.org/0000-0002-5316-1399 Decreased levels of immunoglobulin A (IgA). HP:0005358 HP:0005399 HP:0005431 HP:0008350 HP:0011837 SNOMEDCT_US:29260007 UMLS:C0162538 Decreased IgA Decreased circulating IgA level Decreased immunoglobulin A Gamma-A globulin deficiency IgA deficiency Low levels of immunoglobulin A Reduced IgA levels human_phenotype HP:0002720 Decreased circulating IgA concentration HP:0002720 Decreased levels of immunoglobulin A (IgA). https://orcid.org/0000-0002-0736-9199 Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. HP:0005362 HP:0005371 SNOMEDCT_US:234532001 UMLS:C0021051 Decreased immune function Immune deficiency human_phenotype HP:0002721 Immunodeficiency HP:0002721 Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. PMID:20042227 Decreased immune function https://orcid.org/0000-0001-5208-3432 An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. UMLS:C4025684 human_phenotype HP:0002722 Recurrent abscess formation HP:0002722 An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. https://orcid.org/0000-0002-0736-9199 An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. UMLS:C1844385 human_phenotype HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes HP:0002723 An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. GO:0045728 Increased susceptibility to Aspergillus infections as manifested by recurrent episodes of Aspergillus infection. UMLS:C4021752 Aspergillus infections, recurrent Chronic aspergillosis Persistent aspergillus infection Recurrent Aspergillus infections Recurrent aspergillosis human_phenotype HP:0002724 Recurrent Aspergillus infection HP:0002724 Aspergillus infections, recurrent https://orcid.org/0000-0002-5316-1399 A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. SNOMEDCT_US:55464009 UMLS:C0024141 SLE human_phenotype HP:0002725 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. Systemic lupus erythematosus HP:0002725 A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. https://orcid.org/0000-0002-0736-9199 SLE Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. UMLS:C2673462 Staphylococcus aureus infections, recurrent Chronic staphylococcus aureus infection Persistent staphylococcus aureus infection human_phenotype HP:0002726 Recurrent Staphylococcus aureus infection HP:0002726 Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. https://orcid.org/0000-0002-0736-9199 Staphylococcus aureus infections, recurrent https://orcid.org/0000-0002-5316-1399 true HP:0002727 Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. HP:0005392 SNOMEDCT_US:234568006 UMLS:C0006845 Chronic candidiasis of mucosa, skin and nails Chronic mucocutaneous candidiasis Mucocutaneous candidiasis Persistent mucocutaneous candidiasis human_phenotype HP:0002728 The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. Recurrent mucocutaneous candidiasis HP:0002728 Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. PMID:20859203 https://orcid.org/0000-0002-0736-9199 Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. UMLS:C4014733 human_phenotype HP:0002729 Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one. Follicular hyperplasia HP:0002729 Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. PMID:23281438 PMID:27929264 https://orcid.org/0000-0002-0736-9199 A chronic form of lymphadenopathy that is not related to infection. UMLS:C1858970 human_phenotype HP:0002730 Chronic noninfectious lymphadenopathy HP:0002730 A chronic form of lymphadenopathy that is not related to infection. https://orcid.org/0000-0002-0736-9199 Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. UMLS:C1858969 Defective lymphocyte apoptosis human_phenotype HP:0002731 Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis. Decreased T cell apoptosis HP:0002731 Abnormal decrease of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the lymph nodes. UMLS:C1865377 UMLS:C4025683 human_phenotype Small lymph nodes HP:0002732 Lymph node hypoplasia HP:0002732 Underdevelopment of the lymph nodes. https://orcid.org/0000-0002-0736-9199 Small lymph nodes A structural lymph node abnormality. HP:0008149 UMLS:C0149727 Abnormal lymph node histology Abnormality of the lymph nodes human_phenotype HP:0002733 Abnormal lymph node morphology HP:0002733 A structural lymph node abnormality. https://orcid.org/0000-0002-0736-9199 Abnormal lymph node histology Abnormality of the lymph nodes true HP:0002734 true HP:0002735 true HP:0002736 UMLS:C1839507 Increased thickness of bone of skull base Increased thickness of skull base Thick skull base human_phenotype HP:0002737 Thick skull base HP:0002737 Increased thickness of bone of skull base https://orcid.org/0000-0001-5889-4463 Increased thickness of skull base https://orcid.org/0000-0001-5889-4463 Thick skull base Underdevelopment of frontal sinus. UMLS:C1859682 UMLS:C4280548 UMLS:C4280549 Decreased volume of frontal sinuses Small frontal sinuses Underdeveloped frontal sinuses Decreased pneumatization of frontal sinus human_phenotype Hypotrophic frontal sinus HP:0002738 Hypoplastic frontal sinuses HP:0002738 Underdevelopment of frontal sinus. https://orcid.org/0000-0002-0736-9199 Decreased volume of frontal sinuses https://orcid.org/0000-0001-5889-4463 Small frontal sinuses https://orcid.org/0000-0001-5889-4463 Decreased pneumatization of frontal sinus https://orcid.org/0000-0001-5889-4463 Hypotrophic frontal sinus https://orcid.org/0000-0001-5889-4463 true HP:0002739 Increased susceptibility to Escherichia coli infections as manifested by recurrent episodes of Escherichia coli infection. SNOMEDCT_US:71057007 UMLS:C0014836 Chronic E. coli infection E coli infections E coli infections, recurrent Persistent E. coli infection Recurrent E. coli infection Recurrent E. coli infections human_phenotype HP:0002740 Recurrent Escherichia coli infection HP:0002740 E coli infections, recurrent https://orcid.org/0000-0002-5316-1399 Increased susceptibility to Serratia infections as manifested by recurrent episodes of Serratia infection. UMLS:C4025682 Chronic Serratia infection Persistent Serratia infection Recurrent Serratia marcescens infections Recurrent infection with Serratia species Recurrent infection with Serratia spp human_phenotype HP:0002741 Recurrent Serratia infection HP:0002741 Increased susceptibility to Klebsiella infections as manifested by recurrent episodes of Klebsiella infection. UMLS:C4021751 Chronic Klebsiella infection Klebsiella infections, recurrent Persistent Klebsiella infection Recurrent Klebsiella infections Recurrent infection with Klebsiella species Recurrent infection with Klebsiella spp human_phenotype HP:0002742 Recurrent Klebsiella infection HP:0002742 Klebsiella infections, recurrent https://orcid.org/0000-0002-5316-1399 Increased susceptibility to enteroviral infections as manifested by recurrent episodes of enteroviral infection. UMLS:C4025681 human_phenotype HP:0002743 Recurrent enteroviral infections HP:0002743 Increased susceptibility to enteroviral infections as manifested by recurrent episodes of enteroviral infection. https://orcid.org/0000-0002-0736-9199 HP:0100337 human_phenotype HP:0002744 obsolete Bilateral cleft lip and palate true HP:0002744 A thickened white patch on the oral mucosa that cannot be rubbed off. SNOMEDCT_US:414603003 SNOMEDCT_US:9187004 UMLS:C0023532 UMLS:C1704317 Oral idiopathic keratosis Oral idiopathic leukoplakia Oral idiopathic white patch Oral leucoplakia Oral leukokeratosis Oral leukoplasia Oral white patch Oral white plaque leukokeratosis human_phenotype HP:0002745 The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart. Oral leukoplakia HP:0002745 A thickened white patch on the oral mucosa that cannot be rubbed off. PMID:17944749 https://orcid.org/0000-0002-0736-9199 Oral idiopathic keratosis https://orcid.org/0000-0001-5889-4463 Oral idiopathic leukoplakia https://orcid.org/0000-0001-5889-4463 Oral idiopathic white patch https://orcid.org/0000-0001-5889-4463 Oral leucoplakia https://orcid.org/0000-0001-5889-4463 Oral leukokeratosis https://orcid.org/0000-0001-5889-4463 Oral leukoplasia https://orcid.org/0000-0001-5889-4463 Oral white patch https://orcid.org/0000-0001-5889-4463 Oral white plaque https://orcid.org/0000-0001-5889-4463 leukokeratosis https://orcid.org/0000-0002-5316-1399 true HP:0002746 HP:0004882 HP:0004888 UMLS:C3806467 Decreased lung function due to weak breathing muscles Decreased respiratory function due to muscle weakness Respiratory distress due to muscle weakness Respiratory failure due to muscle weakness Respiratory muscle weakness human_phenotype HP:0002747 Respiratory insufficiency due to muscle weakness HP:0002747 Decreased lung function due to weak breathing muscles https://orcid.org/0000-0002-6548-5200 Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. SNOMEDCT_US:41345002 UMLS:C0035579 Weak and soft bones human_phenotype HP:0002748 Rickets HP:0002748 Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. GARD:0005700 Weak and soft bones https://orcid.org/0000-0002-6548-5200 Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. SNOMEDCT_US:4598005 UMLS:C0029442 Softening of the bones human_phenotype HP:0002749 Osteomalacia HP:0002749 Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. https://orcid.org/0000-0002-0736-9199 Softening of the bones A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. HP:0000928 HP:0002806 SNOMEDCT_US:123983008 UMLS:C0541764 Delayed bone age Delayed bone age before puberty Delayed bone maturation Delayed skeletal development Retarded bone age Skeletal maturation retardation human_phenotype Retarded ossification HP:0002750 Delayed skeletal maturation HP:0002750 A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. https://orcid.org/0000-0002-0736-9199 Delayed bone maturation Delayed skeletal development An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. HP:0003412 HP:0003424 HP:0004593 HP:0005728 SNOMEDCT_US:405773007 UMLS:C0575158 human_phenotype HP:0002751 Kyphoscoliosis HP:0002751 An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. https://orcid.org/0000-0002-0736-9199 UMLS:C1833324 human_phenotype HP:0002752 Sparse bone trabeculae HP:0002752 Abnormal thinning of the cortical region of bones. HP:0003104 UMLS:C1833325 Thin cortices human_phenotype HP:0002753 Thin bony cortex HP:0002753 Abnormal thinning of the cortical region of bones. https://orcid.org/0000-0002-0736-9199 Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. HP:0002755 HP:0005901 SNOMEDCT_US:111253001 SNOMEDCT_US:60168000 UMLS:C0029443 UMLS:C2242472 Bone infection human_phenotype HP:0002754 Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. Osteomyelitis HP:0002754 Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. PMID:15276398 https://orcid.org/0000-0002-0736-9199 Bone infection https://orcid.org/0000-0001-5208-3432 HP:0002754 human_phenotype HP:0002755 obsolete Osteomyelitis due to immunodeficiency true HP:0002755 A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. HP:0005633 SNOMEDCT_US:22640007 SNOMEDCT_US:268029009 UMLS:C0016663 Spontaneous fracture human_phenotype Pathologic fractures Spontaneous fractures HP:0002756 Pathologic fracture HP:0002756 A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. https://orcid.org/0000-0002-0736-9199 Spontaneous fracture Pathologic fractures https://orcid.org/0000-0002-5316-1399 Spontaneous fractures https://orcid.org/0000-0002-5316-1399 The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). HP:0002660 HP:0002767 HP:0002809 SNOMEDCT_US:134291007 SNOMEDCT_US:5468008 UMLS:C0016655 UMLS:C1833752 UMLS:C3805574 UMLS:C3806283 Frequent fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Recurrent fractures Varying degree of multiple fractures human_phenotype HP:0002757 This term will be made obsolete. The annotations need to be checked. Recurrent fractures HP:0002757 The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). https://orcid.org/0000-0002-0736-9199 Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Recurrent fractures Varying degree of multiple fractures Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. HP:0001379 HP:0002824 HP:0005762 SNOMEDCT_US:225655006 SNOMEDCT_US:396275006 UMLS:C0029408 Degenerative joint disease human_phenotype HP:0002758 Osteoarthritis HP:0002758 Degenerative joint disease true HP:0002759 true HP:0002760 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. UMLS:C1836308 Generalised joint laxity Generalized joint laxity Hypermobility of all joints human_phenotype Joint laxity, generalised Joint laxity, generalized HP:0002761 Generalized joint hypermobility HP:0002761 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred. PMID:28145606 https://orcid.org/0000-0002-0736-9199 Generalised joint laxity Hypermobility of all joints Joint laxity, generalised Joint laxity, generalized https://orcid.org/0000-0002-5316-1399 Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. SNOMEDCT_US:254044004 UMLS:C0015306 human_phenotype HP:0002762 Multiple exostoses HP:0002762 Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. https://orcid.org/0000-0002-0736-9199 Any morphological abnormality of cartilage. HP:0410007 UMLS:C4025680 Abnormal shape of cartilage Abnormality of cartilage morphology human_phenotype HP:0002763 Abnormal cartilage morphology HP:0002763 Any morphological abnormality of cartilage. https://orcid.org/0000-0002-0736-9199 Abnormal shape of cartilage https://orcid.org/0000-0001-5208-3432 Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). UMLS:C4025679 human_phenotype HP:0002764 See the figure in PMID:29246349 Stippled chondral calcification HP:0002764 Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). PMID:29246349 https://orcid.org/0000-0002-0736-9199 true HP:0002765 UMLS:C3277114 Relatively short spine human_phenotype HP:0002766 Relatively short spine HP:0002766 Relatively short spine true HP:0002767 true HP:0002768 true HP:0002769 true HP:0002770 true HP:0002771 true HP:0002772 HP:0008479 human_phenotype HP:0002773 obsolete Small vertebral bodies true HP:0002773 true HP:0002774 true HP:0002775 true HP:0002776 SNOMEDCT_US:11296007 UMLS:C0040583 Narrowing of windpipe human_phenotype HP:0002777 Tracheal stenosis HP:0002777 Narrowing of windpipe https://orcid.org/0000-0001-5208-3432 A structural anomaly of the trachea. SNOMEDCT_US:47125007 UMLS:C0040580 UMLS:C4025678 Abnormal trachea morphology Abnormality of the trachea human_phenotype Tracheal disease HP:0002778 Abnormal tracheal morphology HP:0002778 A structural anomaly of the trachea. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:95434006 UMLS:C0948187 Floppy windpipe human_phenotype HP:0002779 Tracheomalacia HP:0002779 Floppy windpipe https://orcid.org/0000-0002-6548-5200 Weakness or softness of the cartilage in the walls of the bronchial tubes. SNOMEDCT_US:54203008 UMLS:C0264353 human_phenotype HP:0002780 Bronchomalacia HP:0002780 Weakness or softness of the cartilage in the walls of the bronchial tubes. PMID:15764786 Increased resistance to the passage of air in the upper airway. UMLS:C0740852 Upper airway obstruction human_phenotype HP:0002781 Upper airway obstruction HP:0002781 Increased resistance to the passage of air in the upper airway. https://orcid.org/0000-0002-0736-9199 Upper airway obstruction true HP:0002782 An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. HP:0004884 HP:0005955 SNOMEDCT_US:448739000 SNOMEDCT_US:50417007 UMLS:C0149725 UMLS:C0585953 UMLS:C3163798 Chronic lung infections Lower respiratory tract infections Recurrent chest infections human_phenotype HP:0002783 Recurrent lower respiratory tract infections HP:0002783 An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. https://orcid.org/0000-0002-0736-9199 Recurrent chest infections true HP:0002784 true HP:0002785 Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. SNOMEDCT_US:233788001 UMLS:C0340231 human_phenotype HP:0002786 Tracheobronchomalacia HP:0002786 Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. https://orcid.org/0000-0002-0736-9199 Calcification (abnormal deposits of calcium) in the tracheal tissues. SNOMEDCT_US:81089005 UMLS:C0264324 Calcification of the trachea Tracheal calcifications Tracheal ectopic calcification human_phenotype HP:0002787 Tracheal calcification HP:0002787 Calcification (abnormal deposits of calcium) in the tracheal tissues. PMID:18663210 https://orcid.org/0000-0002-0736-9199 Tracheal calcifications An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). HP:0001740 HP:0002784 SNOMEDCT_US:195708003 UMLS:C0581381 Frequent upper respiratory infections Frequent upper respiratory tract infections Recurrent URI Recurrent colds Recurrent upper respiratory and lower respiratory infections Recurrent upper respiratory infection Recurrent upper respiratory infections Upper respiratory tract infections Upper respiratory tract infections, recurrent human_phenotype HP:0002788 Recurrent upper respiratory tract infections HP:0002788 An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). https://orcid.org/0000-0002-0736-9199 Recurrent URI Recurrent colds https://orcid.org/0000-0002-6548-5200 Upper respiratory tract infections, recurrent https://orcid.org/0000-0002-5316-1399 Very rapid breathing. HP:0002874 HP:0004346 SNOMEDCT_US:271823003 UMLS:C0231835 Increased respiratory rate or depth of breathing Polypnea human_phenotype HP:0002789 In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. Tachypnea HP:0002789 Very rapid breathing. https://orcid.org/0000-0002-0736-9199 Increased respiratory rate or depth of breathing UMLS:C3806216 Impaired breathing in newborn human_phenotype HP:0002790 Neonatal breathing dysregulation HP:0002790 Impaired breathing in newborn https://orcid.org/0000-0001-5208-3432 A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). HP:0004892 SNOMEDCT_US:15993004 SNOMEDCT_US:31515003 SNOMEDCT_US:80954004 UMLS:C0235063 UMLS:C3203358 Alveolar hypoventilation Slow breathing Under breathing human_phenotype Respiratory depression HP:0002791 Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal. Hypoventilation HP:0002791 A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). https://orcid.org/0000-0002-0736-9199 Slow breathing https://orcid.org/0000-0001-6908-9849 Under breathing https://orcid.org/0000-0001-6908-9849 An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. SNOMEDCT_US:274715008 SNOMEDCT_US:607007 UMLS:C0476408 UMLS:C0520831 Decreased vital capacity human_phenotype HP:0002792 Reduced vital capacity HP:0002792 An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. https://orcid.org/0000-0002-0736-9199 An anomaly of the rhythm or depth of breathing. UMLS:C1837388 Abnormal pattern of respiration Abnormal respiratory patterns Unusual breathing patterns human_phenotype HP:0002793 Abnormal pattern of respiration HP:0002793 An anomaly of the rhythm or depth of breathing. https://orcid.org/0000-0002-0736-9199 Abnormal pattern of respiration Abnormal respiratory patterns Unusual breathing patterns true HP:0002794 Abnormal function of the respiratory system. HP:0005952 Fyler:4200 UMLS:C4025677 Abnormal respiration Functional respiratory abnormality human_phenotype Impaired pulmonary function Respiratory problem HP:0002795 Abnormal respiratory system physiology HP:0002795 Abnormal respiration https://orcid.org/0000-0001-5208-3432 Functional respiratory abnormality Respiratory problem true HP:0002796 Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. HP:0010737 SNOMEDCT_US:203522001 SNOMEDCT_US:30425001 UMLS:C0221204 Breakdown of bone Increased bone resorption Osteolytic defects of bones human_phenotype HP:0002797 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. Osteolysis HP:0002797 Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. https://orcid.org/0000-0002-0736-9199 Breakdown of bone https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Increased bone resorption https://orcid.org/0009-0006-4530-3154 true HP:0002798 true HP:0002799 true HP:0002800 true HP:0002801 true HP:0002802 One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. UMLS:C0332878 Congenital joint contractures congenital contractures human_phenotype HP:0002803 Congenital contracture HP:0002803 One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. https://orcid.org/0000-0002-0736-9199 congenital contractures https://orcid.org/0000-0002-5316-1399 Multiple congenital contractures in different body areas. HP:0001389 HP:0001390 HP:0002759 HP:0005188 HP:0005663 HP:0005809 HP:0005859 SNOMEDCT_US:111246005 SNOMEDCT_US:77016009 UMLS:C0003886 Arthrogryposis Arthrogryposis multiplex Arthrogryposis, congenital Multiple congenital contractures human_phenotype HP:0002804 Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. Arthrogryposis multiplex congenita HP:0002804 Multiple congenital contractures in different body areas. PMID:23050160 https://orcid.org/0000-0002-0736-9199 UMLS:C1860825 Accelerated bone age after puberty human_phenotype HP:0002805 Accelerated bone age after puberty HP:0002805 Accelerated bone age after puberty true HP:0002806 true HP:0002807 Exaggerated anterior convexity of the thoracic vertebral column. HP:0002769 HP:0003314 SNOMEDCT_US:414564002 UMLS:C0022821 UMLS:C1845112 Gibbus deformity Hunched back Hyperkyphosis Round back human_phenotype HP:0002808 Kyphosis HP:0002808 Exaggerated anterior convexity of the thoracic vertebral column. https://orcid.org/0000-0002-0736-9199 Hunched back https://orcid.org/0000-0001-6908-9849 Round back true HP:0002809 HP:0005079 UMLS:C3277123 Dumbbell shaped metaphyses Dumbbell shaped metaphysis Dumbbell shaped wide portion of long bone human_phenotype HP:0002810 Dumbbell-shaped metaphyses HP:0002810 Dumbbell shaped metaphysis https://orcid.org/0000-0001-6908-9849 Dumbbell shaped wide portion of long bone https://orcid.org/0000-0001-5208-3432 true HP:0002811 Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. SNOMEDCT_US:74820003 UMLS:C0239138 human_phenotype HP:0002812 The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. Coxa vara HP:0002812 Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. https://orcid.org/0000-0002-0736-9199 Any abnormality of bones of the arms or legs. UMLS:C4082761 Abnormal shape of limb bone Abnormality of limb bone morphology Arm and/or leg bone differences Limb abnormality human_phenotype HP:0002813 Abnormal limb bone morphology HP:0002813 Any abnormality of bones of the arms or legs. https://orcid.org/0000-0002-0736-9199 Abnormal shape of limb bone https://orcid.org/0000-0001-5208-3432 Arm and/or leg bone differences Limb abnormality An abnormality of the leg. SNOMEDCT_US:449715001 UMLS:C1096086 Abnormality of the leg Abnormality of the lower limb Lower limb deformities human_phenotype HP:0002814 Abnormality of the lower limb HP:0002814 An abnormality of the leg. https://orcid.org/0000-0002-0736-9199 Abnormality of the lower limb Lower limb deformities An abnormality of the knee joint or surrounding structures. UMLS:C4025676 Abnormality of the knee human_phenotype HP:0002815 Abnormality of the knee HP:0002815 An abnormality of the knee joint or surrounding structures. https://orcid.org/0000-0002-0736-9199 Abnormality of the knee An abnormally increased extension of the knee joint, so that the knee can bend backwards. MEDDRA:10018194 UMLS:C0546964 Back knee Genu recurvata Knee hyperextension human_phenotype HP:0002816 Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. Genu recurvatum HP:0002816 An abnormally increased extension of the knee joint, so that the knee can bend backwards. PMID:9580896 https://orcid.org/0000-0002-0736-9199 MEDDRA:10018194 Genu recurvatum Back knee https://en.wikipedia.org/wiki/genu_recurvatum https://orcid.org/0000-0001-6908-9849 Knee hyperextension https://en.wikipedia.org/wiki/genu_recurvatum https://orcid.org/0000-0001-6908-9849 An abnormality of the arm. HP:0003838 UMLS:C4020900 Abnormality of the arm Abnormality of the upper limb human_phenotype HP:0002817 Abnormality of the upper limb HP:0002817 An abnormality of the arm. https://orcid.org/0000-0002-0736-9199 Abnormality of the upper limb An abnormality of the radius. HP:0045009 UMLS:C4025675 Abnormality of the radius human_phenotype HP:0002818 Abnormal morphology of the radius HP:0002818 An abnormality of the radius. https://orcid.org/0000-0002-0736-9199 true HP:0002819 true HP:0002820 SNOMEDCT_US:359554008 SNOMEDCT_US:67536000 UMLS:C0003892 Charcot arthropathy Charcot joint human_phenotype HP:0002821 Neuropathic arthropathy HP:0002821 Charcot arthropathy https://orcid.org/0000-0001-6908-9849 Charcot joint https://orcid.org/0000-0001-6908-9849 UMLS:C3277120 Hyperplastic femoral trochanters human_phenotype HP:0002822 Hyperplasia of the femoral trochanters HP:0002822 Any anomaly of the structure of the femur. HP:0001439 UMLS:C4021750 Abnormality of femur morphology Abnormality of the femora Abnormality of the thighbone human_phenotype HP:0002823 The femur (plural: femora) is the thigh bone. Abnormal femur morphology HP:0002823 Any anomaly of the structure of the femur. https://orcid.org/0000-0002-0736-9199 Abnormality of the thighbone https://orcid.org/0000-0001-5208-3432 true HP:0002824 The presence of a tail-like skin appendage located adjacent to the sacrum. UMLS:C3277117 Coccygeal tail Human tail Sacral appendage human_phenotype HP:0002825 Caudal appendage HP:0002825 The presence of a tail-like skin appendage located adjacent to the sacrum. PMID:18266249 PMID:18629881 PMID:23904413 https://orcid.org/0000-0002-0736-9199 Human tail https://orcid.org/0000-0001-6908-9849 An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). UMLS:C3277119 Halberd-shaped pelvis bone human_phenotype HP:0002826 Halberd-shaped pelvis HP:0002826 An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). PMID:19232556 https://orcid.org/0000-0002-0736-9199 Displacement of the femur from its normal location in the hip joint. HP:0001375 HP:0008826 SNOMEDCT_US:157265008 UMLS:C0019554 Dislocated femoral heads Dislocated hips Dislocation of hip Dislocation of the femoral head Hip dislocation human_phenotype HP:0002827 Hip dislocation HP:0002827 Displacement of the femur from its normal location in the hip joint. https://orcid.org/0000-0002-0736-9199 Dislocated hips Dislocation of hip Hip dislocation SNOMEDCT_US:19393004 SNOMEDCT_US:202264009 UMLS:C0158118 human_phenotype HP:0002828 Multiple joint contractures HP:0002828 Joint pain. SNOMEDCT_US:57676002 UMLS:C0003862 Arthralgias Joint pain human_phenotype Arthritic pain Joint pains HP:0002829 Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. Arthralgia HP:0002829 Joint pain. https://orcid.org/0000-0002-0736-9199 Joint pain https://orcid.org/0000-0002-6548-5200 Joint pains https://orcid.org/0000-0002-5316-1399 true HP:0002830 UMLS:C3277116 Long tailbone human_phenotype HP:0002831 Long coccyx HP:0002831 Long tailbone https://orcid.org/0000-0001-6908-9849 An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). HP:0005738 UMLS:C1849993 Discrete calcific stippling human_phenotype HP:0002832 Calcific stippling HP:0002832 An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). https://orcid.org/0000-0002-0736-9199 Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. UMLS:C4021749 Lytic cystic lesions in appendicular bones human_phenotype HP:0002833 The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. Cystic angiomatosis of bone HP:0002833 Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. PMID:11930062 https://orcid.org/0000-0002-0736-9199 UMLS:C4025674 Flared metaphysis of thigh bone human_phenotype HP:0002834 Flared femoral metaphysis HP:0002834 Flared metaphysis of thigh bone https://orcid.org/0000-0001-5208-3432 Inspiration of a foreign object into the airway. SNOMEDCT_US:413585005 SNOMEDCT_US:68052005 UMLS:C0700198 UMLS:C2712334 human_phenotype Pulmonary aspiration HP:0002835 Aspiration HP:0002835 Inspiration of a foreign object into the airway. https://orcid.org/0000-0002-0736-9199 Pulmonary aspiration https://orcid.org/0000-0001-6908-9849 Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. SNOMEDCT_US:61758007 UMLS:C0005689 Ectopia vesicae human_phenotype HP:0002836 Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately. Bladder exstrophy HP:0002836 Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Ectopia vesicae https://orcid.org/0000-0001-6908-9849 An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. HP:0002785 UMLS:C0741796 Bronchitis, recurrent human_phenotype HP:0002837 Recurrent bronchitis HP:0002837 An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. ISBN:0199747725 PMID:28261574 https://orcid.org/0000-0002-0736-9199 Bronchitis, recurrent https://orcid.org/0000-0002-5316-1399 true HP:0002838 Abnormal function of a sphincter of the urinary bladder. HP:0000018 UMLS:C1843663 Sphincter disturbance Sphincter disturbances human_phenotype HP:0002839 Urinary bladder sphincter dysfunction HP:0002839 Abnormal function of a sphincter of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Inflammation of a lymph node. SNOMEDCT_US:19471005 UMLS:C0024205 Inflammation of the lymph nodes human_phenotype HP:0002840 Lymphadenitis HP:0002840 Inflammation of a lymph node. https://orcid.org/0000-0002-0736-9199 Inflammation of the lymph nodes https://orcid.org/0000-0001-5208-3432 Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. HP:0005350 HP:0005380 HP:0005388 UMLS:C1844384 Recurrent fungal infections human_phenotype HP:0002841 Recurrent fungal infections HP:0002841 Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. https://orcid.org/0000-0002-0736-9199 Recurrent fungal infections UMLS:C4025673 Chronic Burkholderia cepacia infection Persistent Burkholderia cepacia infection Recurrent Burkholderia cepacia infection Recurrent Burkholderia cepacia infections human_phenotype HP:0002842 Increased susceptibility to Burkholderia cepacia infections as manifested by recurrent episodes of Burkholderia cepacia infection. Recurrent Burkholderia cepacia infection HP:0002842 Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells. HP:0002734 HP:0030332 HP:0030333 UMLS:C1855752 Abnormal T cells Abnormality of T cells Cellular immune defect Defective cellular immunity human_phenotype HP:0002843 T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. Abnormal T cell morphology HP:0002843 Abnormal increase or decrease of total or subset T cell count. T cells are commonly characterized as CD3+ lymphocytes, or their subpopulations, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. These may include both TCR alpha/beta and gamma/delta T cells. https://orcid.org/0000-0002-0736-9199 Abnormal T cells https://orcid.org/0000-0002-5316-1399 true HP:0002844 HP:0002851 human_phenotype HP:0002845 obsolete Increased proportion of peripheral CD3+ T cells true HP:0002845 A structural abnormality of B cells. UMLS:C4021748 Abnormal B cells Abnormality of B cells human_phenotype HP:0002846 B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. Abnormal B cell morphology HP:0002846 A structural abnormality of B cells. PMID:18725575 https://orcid.org/0000-0002-0736-9199 Abnormal B cells https://orcid.org/0000-0002-5316-1399 Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. UMLS:C4025672 human_phenotype HP:0002847 Impaired memory B cell generation HP:0002847 Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. https://orcid.org/0000-0002-0736-9199 The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. UMLS:C4021747 Depressed antibody response to polysaccharide antigens Low specific anti-polysaccharide antibody titer Specific anti-polysaccharide antibody deficiency human_phenotype HP:0002848 Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. Decreased specific anti-polysaccharide antibody concentration HP:0002848 The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. https://orcid.org/0000-0002-0736-9199 Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. UMLS:C1847383 Absence of lymph node germinal centre Lymph nodes lack germinal center Lymph nodes lack germinal centre Lymphoid germinal center defect Lymphoid germinal centre defect human_phenotype HP:0002849 Absence of lymph node germinal center HP:0002849 Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. https://orcid.org/0000-0002-0736-9199 Absence of lymph node germinal centre Lymph nodes lack germinal centre Lymphoid germinal centre defect An abnormally decreased level of immunoglobulin M (IgM) in blood. HP:0003147 HP:0005385 UMLS:C0239989 Decreased IgM Decreased IgM level IgM deficiency Reduced IgM levels human_phenotype HP:0002850 Decreased circulating IgM concentration HP:0002850 An abnormally decreased level of immunoglobulin M (IgM) in blood. https://orcid.org/0000-0002-0736-9199 Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. HP:0002845 UMLS:C1858973 Elevated double-negative T cell proportion Elevated proportion of CD4-negative, CD8-negative T cells Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors human_phenotype HP:0002851 Increased double-negative T cell number HP:0002851 Abnormal increase of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. PMID:19176318 PMID:34474549 true HP:0002852 Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. UMLS:C1858974 Increased HLA DR+ CD4+ T cell proportion Increased HLA DR+ T cell proportion Increased proportion of HLA DR+ T cells human_phenotype HP:0002853 HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. Increased HLA-DR+ CD4+ T cell proportion HP:0002853 Abnormal increase of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:11531958 true HP:0002854 true HP:0002855 true HP:0002856 The legs angle inward, such that the knees are close together and the ankles far apart. HP:0004999 MEDDRA:10023480 SNOMEDCT_US:299330008 UMLS:C0576093 Genu valga Genu valgus Genua valga Knee joint valgus deformity Knock knees human_phenotype HP:0002857 Genu valgum HP:0002857 The legs angle inward, such that the knees are close together and the ankles far apart. https://orcid.org/0000-0002-0736-9199 MEDDRA:10023480 Knock-knee Knock knees The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. HP:0006754 Noncancerous growth of membranes covering brain NCIT:C3230 UMLS:C0025286 human_phenotype HP:0002858 Meningioma HP:0002858 The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. https://orcid.org/0000-0002-0736-9199 Noncancerous growth of membranes covering brain https://orcid.org/0000-0002-6548-5200 NCIT:C3359 SNOMEDCT_US:302847003 SNOMEDCT_US:30924005 UMLS:C0035412 human_phenotype HP:0002859 Rhabdomyosarcoma HP:0002859 The presence of squamous cell carcinoma of the skin. Squamous cell cancer NCIT:C2929 SNOMEDCT_US:28899001 SNOMEDCT_US:402815007 UMLS:C0007137 UMLS:C0751688 human_phenotype HP:0002860 Squamous cell carcinoma HP:0002860 The presence of squamous cell carcinoma of the skin. https://orcid.org/0000-0002-0736-9199 Squamous cell cancer https://orcid.org/0000-0001-6908-9849 The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). HP:0002887 HP:0006777 HP:0007474 Cancer of skin pigment cells Skin cancer (melanoma) NCIT:C3224 SNOMEDCT_US:2092003 SNOMEDCT_US:372244006 UMLS:C0025202 Malignant melanoma human_phenotype HP:0002861 A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. Melanoma HP:0002861 The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). https://orcid.org/0000-0002-0736-9199 Cancer of skin pigment cells https://orcid.org/0000-0002-6548-5200 Skin cancer (melanoma) The presence of a carcinoma of the urinary bladder. NCIT:C2916 SNOMEDCT_US:255108000 UMLS:C0699885 human_phenotype HP:0002862 Bladder carcinoma HP:0002862 The presence of a carcinoma of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. HP:0004832 HP:0006730 SNOMEDCT_US:109995007 SNOMEDCT_US:128623006 SNOMEDCT_US:188736006 UMLS:C1851971 UMLS:C3463824 Myelodysplastic syndrome human_phenotype Hypoplastic myelodysplasia HP:0002863 Myelodysplasia HP:0002863 Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. https://orcid.org/0000-0002-0736-9199 UMLS:C1333944 Paragangliomas, head and neck human_phenotype HP:0002864 Paraganglioma of head and neck HP:0002864 The presence of a medullary carcinoma of the thyroid gland. Medullary thyroid cancer NCIT:C3879 SNOMEDCT_US:128916007 SNOMEDCT_US:255032005 UMLS:C0238462 human_phenotype HP:0002865 Medullary thyroid carcinoma HP:0002865 The presence of a medullary carcinoma of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Medullary thyroid cancer https://orcid.org/0000-0001-6908-9849 Underdevelopment of the ilium ala. HP:0003169 HP:0003181 HP:0008837 UMLS:C1865027 Hypoplastic iliac alae Hypoplastic iliac wings Small iliac wings human_phenotype HP:0002866 Hypoplastic iliac wing HP:0002866 Underdevelopment of the ilium ala. https://orcid.org/0000-0002-0736-9199 An abnormality of the ilium, the largest and uppermost bone of the pelvis. UMLS:C4021746 Abnormality of the ilium Iliac abnormalities human_phenotype HP:0002867 Abnormal ilium morphology HP:0002867 An abnormality of the ilium, the largest and uppermost bone of the pelvis. https://orcid.org/0000-0002-0736-9199 Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). UMLS:C1836688 Narrow iliac wings human_phenotype HP:0002868 Narrow iliac wing HP:0002868 Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). https://orcid.org/0000-0002-0736-9199 Narrow iliac wings Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. UMLS:C1865841 Flared iliac wings human_phenotype HP:0002869 See Figure 4A of PMID:28744080. Flared iliac wing HP:0002869 Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. PMID:28744080 https://orcid.org/0000-0002-0736-9199 Flared iliac wings Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. SNOMEDCT_US:78275009 UMLS:C0520679 human_phenotype Obstructive sleep apnoea HP:0002870 Obstructive sleep apnea HP:0002870 Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. PMID:35609941 Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. UMLS:C0520680 Central apnoea human_phenotype HP:0002871 Central apnea HP:0002871 Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. https://orcid.org/0000-0002-0736-9199 Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. UMLS:C3806462 Episodic apnea induced by febrile illness or stress human_phenotype HP:0002872 Apneic episodes precipitated by illness, fatigue, stress HP:0002872 Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. https://orcid.org/0000-0002-0736-9199 true HP:0002873 true HP:0002874 Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. SNOMEDCT_US:60845006 UMLS:C0231807 Exertional breathlessness Exertional dyspnoea Shortness of breathing upon physical activity human_phenotype HP:0002875 Exertional dyspnea HP:0002875 Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. PMID:29763022 Exertional breathlessness Exertional dyspnoea Shortness of breathing upon physical activity Episodes of very rapid breathing. HP:0002881 UMLS:C3806218 Hyperpnea, episodic human_phenotype HP:0002876 Episodic tachypnea HP:0002876 Episodes of very rapid breathing. https://orcid.org/0000-0002-0736-9199 An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide. UMLS:C1843643 Hypoventilation during sleep Nocturnal hypopnea Nocturnal slow breathing Nocturnal under breathing human_phenotype HP:0002877 Nocturnal hypoventilation HP:0002877 An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide. PMID:20308760 Nocturnal hypopnea https://orcid.org/0000-0001-6908-9849 Nocturnal slow breathing https://orcid.org/0000-0001-6908-9849 Nocturnal under breathing https://orcid.org/0000-0001-6908-9849 A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. HP:0004877 SNOMEDCT_US:409622000 UMLS:C1145670 Respiratory failure human_phenotype HP:0002878 Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). Respiratory failure HP:0002878 A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. https://orcid.org/0000-0002-0736-9199 Respiratory failure Abnormally increased variability of the size of the vertebral bodies. UMLS:C1857101 human_phenotype HP:0002879 Anisospondyly HP:0002879 Abnormally increased variability of the size of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 HP:0002098 human_phenotype HP:0002880 obsolete Respiratory difficulties true HP:0002880 true HP:0002881 Recurrent bouts of sudden, severe apnea that may be life-threatening. UMLS:C4025671 human_phenotype HP:0002882 Sudden episodic apnea HP:0002882 Recurrent bouts of sudden, severe apnea that may be life-threatening. https://orcid.org/0000-0002-0736-9199 Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. SNOMEDCT_US:68978004 UMLS:C0020578 Rapid breathing human_phenotype HP:0002883 Hyperventilation HP:0002883 Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. https://orcid.org/0000-0002-0736-9199 Rapid breathing https://orcid.org/0000-0001-6908-9849 A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. NCIT:C3728 SNOMEDCT_US:109843000 SNOMEDCT_US:45024009 UMLS:C0206624 human_phenotype HP:0002884 Hepatoblastoma occurs nearly exclusively in infants and children. Hepatoblastoma HP:0002884 A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. eMedicine:986802 https://orcid.org/0000-0002-0736-9199 A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. NCIT:C3222 SNOMEDCT_US:443333004 SNOMEDCT_US:83217000 UMLS:C0025149 human_phenotype HP:0002885 Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. Medulloblastoma HP:0002885 A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. https://orcid.org/0000-0002-0736-9199 A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. SNOMEDCT_US:253030004 UMLS:C0474819 Glomus vagale tumor Glomus vagale tumour Vagal nerve tumors Vagal nerve tumours human_phenotype Glomus vagale paraganglioma HP:0002886 Vagal paraganglioma HP:0002886 A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. PMID:17268589 https://orcid.org/0000-0002-0736-9199 Glomus vagale tumour Vagal nerve tumours true HP:0002887 The presence of an ependymoma of the central nervous system. NCIT:C3017 SNOMEDCT_US:443643007 SNOMEDCT_US:57706008 UMLS:C0014474 human_phenotype HP:0002888 According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. Ependymoma HP:0002888 The presence of an ependymoma of the central nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0002889 The presence of a carcinoma of the thyroid gland. NCIT:C2916 UMLS:C0549473 human_phenotype HP:0002890 Thyroid carcinoma HP:0002890 The presence of a carcinoma of the thyroid gland. https://orcid.org/0000-0002-0736-9199 The presence of a leiomyosarcoma of the uterus. NCIT:C3158 SNOMEDCT_US:447389009 UMLS:C0280631 human_phenotype HP:0002891 Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. Uterine leiomyosarcoma HP:0002891 The presence of a leiomyosarcoma of the uterus. https://orcid.org/0000-0002-0736-9199 true HP:0002892 A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). ICD-O:M8272/0 NCIT:C2855 SNOMEDCT_US:128664001 SNOMEDCT_US:254956000 UMLS:C0032000 Noncancerous tumor in pituitary gland Noncancerous tumour in pituitary gland Pituitary gland adenoma human_phenotype HP:0002893 In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. Pituitary adenoma can be described as microadenoma, macroadenoma, and giant tumors based on size. Microadenoma is a tumor less than 10 mm, while macroadenoma describes a tumor larger than 10mm. Giant pituitary tumors are bigger than 40 mm. Pituitary adenoma HP:0002893 A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). PMID:32119338 https://orcid.org/0000-0002-0538-4547 ICD-O:M8272/0 Pituitary adenoma Noncancerous tumor in pituitary gland https://orcid.org/0000-0002-6548-5200 Noncancerous tumour in pituitary gland A tumor (abnormal growth of tissue) of the pancreas. HP:0004511 Cancer of the pancreas Pancreatic cancer NCIT:C3262 SNOMEDCT_US:126859007 SNOMEDCT_US:363418001 UMLS:C0030297 UMLS:C0346647 UMLS:C1842408 Neoplasia of the pancreas Pancreatic tumor Pancreatic tumour human_phenotype increased risk of pancreatic cancer HP:0002894 Neoplasm of the pancreas HP:0002894 A tumor (abnormal growth of tissue) of the pancreas. https://orcid.org/0000-0002-0736-9199 Cancer of the pancreas Pancreatic cancer Pancreatic tumor https://orcid.org/0000-0001-5208-3432 Pancreatic tumour increased risk of pancreatic cancer The presence of a papillary adenocarcinoma of the thyroid gland. NCIT:C2853 SNOMEDCT_US:255029007 UMLS:C0238463 Papillary carcinoma of thyroid Thyroid papillary carcinoma human_phenotype HP:0002895 Papillary thyroid carcinoma HP:0002895 The presence of a papillary adenocarcinoma of the thyroid gland. https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the liver. NCIT:C3262 SNOMEDCT_US:126851005 SNOMEDCT_US:93870000 UMLS:C0023903 UMLS:C0345904 Liver cancer Liver tumor Liver tumour human_phenotype HP:0002896 Neoplasm of the liver HP:0002896 A tumor (abnormal growth of tissue) of the liver. https://orcid.org/0000-0002-0736-9199 Liver cancer Liver tumor https://orcid.org/0000-0001-5208-3432 Liver tumour A benign tumor of the parathyroid gland that can cause hyperparathyroidism. HP:0008257 ICD-10:D35.1 NCIT:C2855 SNOMEDCT_US:128474007 UMLS:C0262587 Parathyroid adenomas human_phenotype HP:0002897 Parathyroid adenoma HP:0002897 A benign tumor of the parathyroid gland that can cause hyperparathyroidism. https://orcid.org/0000-0002-0736-9199 ICD-10:D35.1 Benign neoplasm: Parathyroid gland UMLS:C0027654 Embryonal neoplasia Embryonal tumors Embryonal tumours human_phenotype HP:0002898 Embryonal neoplasm HP:0002898 Embryonal tumours true HP:0002899 The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. SNOMEDCT_US:166690008 SNOMEDCT_US:43339004 UMLS:C0020621 Decreased potassium(1+) concentration Decreased potassium(1+) level Decreased potassium(1+) level in blood Hypokalemia Low blood potassium levels Reduced potassium(1+) concentration Reduced potassium(1+) level Reduced potassium(1+) level in blood human_phenotype HP:0002900 Hypokalemia HP:0002900 Low blood potassium levels https://orcid.org/0000-0001-6908-9849 The concentration of calcium in the blood circulation is below the lower limit of normal. SNOMEDCT_US:5291005 UMLS:C0020598 Decreased calcium(2+) concentration Decreased calcium(2+) level Decreased calcium(2+) level in blood Hypocalcaemia Hypocalcemia Low blood calcium levels Reduced calcium(2+) concentration Reduced calcium(2+) level Reduced calcium(2+) level in blood human_phenotype HP:0002901 Hypocalcemia HP:0002901 Low blood calcium levels https://orcid.org/0000-0001-6908-9849 The concentration of sodium in the blood circulation is below the lower limit of normal. SNOMEDCT_US:89627008 UMLS:C0020625 Decreased sodium(1+) concentration Decreased sodium(1+) level Decreased sodium(1+) level in blood Hyponatremia Low blood sodium levels Reduced sodium(1+) concentration Reduced sodium(1+) level Reduced sodium(1+) level in blood human_phenotype HP:0002902 Hyponatremia HP:0002902 Low blood sodium levels https://orcid.org/0000-0001-6908-9849 true HP:0002903 An increased amount of bilirubin in the blood. SNOMEDCT_US:26165005 UMLS:C0311468 High blood bilirubin levels human_phenotype HP:0002904 Hyperbilirubinemia HP:0002904 An increased amount of bilirubin in the blood. https://orcid.org/0000-0002-0736-9199 High blood bilirubin levels https://orcid.org/0000-0001-5208-3432 The concentration of phosphate ion in the blood circulation is above the upper limit of normal. SNOMEDCT_US:20165001 UMLS:C0085681 UMLS:C0553706 Elevated phosphate ion concentration Elevated phosphate ion level Elevated phosphate ion level in blood High blood phosphate levels Hyperphosphatemia Increased phosphate ion concentration Increased phosphate ion level Increased phosphate ion level in blood human_phenotype HP:0002905 Hyperphosphatemia HP:0002905 High blood phosphate levels https://orcid.org/0000-0001-5208-3432 true HP:0002906 Microscopic hematuria detected by dipstick or microscopic examination of the urine. SNOMEDCT_US:197940006 UMLS:C0239937 Microhematuria Occult hematuria Small amount of blood in urine human_phenotype HP:0002907 Microscopic hematuria HP:0002907 Microscopic hematuria detected by dipstick or microscopic examination of the urine. https://orcid.org/0009-0006-4530-3154 Small amount of blood in urine https://orcid.org/0000-0002-6548-5200 HP:0008351 SNOMEDCT_US:9326001 UMLS:C0268307 Direct hyperbilirubinemia human_phenotype HP:0002908 Conjugated hyperbilirubinemia HP:0002908 An increased concentration of all types of amino acid in the urine. HP:0008284 HP:0008317 UMLS:C1847868 Generalised aminoaciduria Generalised nonspecific aminoaciduria Generalized nonspecific aminoaciduria human_phenotype HP:0002909 This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. Generalized aminoaciduria HP:0002909 An increased concentration of all types of amino acid in the urine. https://orcid.org/0000-0002-0736-9199 Generalised aminoaciduria Generalised nonspecific aminoaciduria Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. HP:0001411 HP:0003143 HP:0003156 HP:0003293 HP:0006567 HP:0006578 HP:0008267 HP:0008342 SNOMEDCT_US:166603001 SNOMEDCT_US:166643006 SNOMEDCT_US:75183008 UMLS:C0086565 UMLS:C0151766 UMLS:C0235996 UMLS:C0438237 UMLS:C0438717 UMLS:C0877359 UMLS:C1842003 UMLS:C1848701 Abnormal liver enzymes Abnormal liver function Abnormal liver function tests Elevated circulating hepatic transaminase activity Elevated liver enzymes Elevated serum transaminases Elevated transaminases High liver enzymes Increased liver enzymes Increased liver function tests Increased transaminases Raised liver enzymes Subclinical abnormal liver function tests human_phenotype Elevated liver function tests HP:0002910 Elevated circulating hepatic transaminase concentration HP:0002910 Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. https://orcid.org/0000-0002-0736-9199 High liver enzymes true HP:0002911 The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal. HP:0003123 HP:0008295 SNOMEDCT_US:42393006 UMLS:C0268583 Elevated circulating methylmalonic acid concentration Elevated methylmalonic acid concentration Elevated methylmalonic acid level Elevated methylmalonic acid level in blood Increased methylmalonic acid concentration Increased methylmalonic acid level Increased methylmalonic acid level in blood Methylmalonic acidemia human_phenotype HP:0002912 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Methylmalonic acidemia HP:0002912 Presence of myoglobin in the urine. SNOMEDCT_US:48165008 UMLS:C0027080 human_phenotype HP:0002913 Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. Myoglobinuria HP:0002913 Presence of myoglobin in the urine. https://orcid.org/0000-0002-0736-9199 An increased concentration of chloride in the urine. UMLS:C1846352 Increased urinary chloride human_phenotype HP:0002914 Hyperchloriduria HP:0002914 An increased concentration of chloride in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary chloride true HP:0002915 An abnormality of chromosome segregation. UMLS:C4025670 human_phenotype HP:0002916 Abnormality of chromosome segregation HP:0002916 An abnormality of chromosome segregation. https://orcid.org/0000-0002-0736-9199 The concentration of magnesium in the blood circulation is below the lower limit of normal. HP:0003284 SNOMEDCT_US:190855004 UMLS:C0151723 Decreased magnesium(2+) concentration Decreased magnesium(2+) level Decreased magnesium(2+) level in blood Hypomagnesemia Low blood Mg levels Low blood magnesium levels Reduced magnesium(2+) concentration Reduced magnesium(2+) level Reduced magnesium(2+) level in blood human_phenotype HP:0002917 Hypomagnesemia HP:0002917 Low blood Mg levels Low blood magnesium levels https://orcid.org/0000-0001-6908-9849 The concentration of magnesium in the blood circulation is above the upper limit of normal. SNOMEDCT_US:66978005 UMLS:C0151714 Elevated magnesium(2+) concentration Elevated magnesium(2+) level Elevated magnesium(2+) level in blood High blood Mg levels High blood magnesium levels Hypermagnesemia Increased magnesium(2+) concentration Increased magnesium(2+) level Increased magnesium(2+) level in blood human_phenotype HP:0002918 Hypermagnesemia HP:0002918 High blood Mg levels High blood magnesium levels https://orcid.org/0000-0001-6908-9849 High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. SNOMEDCT_US:274783007 SNOMEDCT_US:36815008 UMLS:C0162275 Ketonaciduria Ketone bodies in urine human_phenotype Acetonuria Ketoaciduria HP:0002919 Acetone is the main component of the ketone bodies. Ketonuria HP:0002919 High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. PMID:11344564 https://orcid.org/0000-0002-0736-9199 Ketone bodies in urine https://orcid.org/0000-0002-6548-5200 Ketoaciduria https://orcid.org/0000-0002-5316-1399 The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. UMLS:C4025669 human_phenotype HP:0002920 Decreased circulating ACTH concentration HP:0002920 The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. https://orcid.org/0000-0002-0736-9199 An abnormality of the cerebrospinal fluid (CSF). UMLS:C0151583 Abnormal CSF findings Abnormality of the CSF Abnormality of the cerebrospinal fluid human_phenotype HP:0002921 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). Abnormal cerebrospinal fluid morphology HP:0002921 An abnormality of the cerebrospinal fluid (CSF). https://orcid.org/0000-0002-0736-9199 Abnormal CSF findings Abnormality of the CSF Increased concentration of protein in the cerebrospinal fluid. UMLS:C1806780 Cerebrospinal fluid protein increased Cerebrospinal fluid with increased protein Elevated cerebrospinal fluid protein Elevated csf protein Hyperproteinorrhachia Increased CSF protein Increased protein in csf Spinal fluid protein elevated human_phenotype HP:0002922 Increased CSF protein concentration HP:0002922 Increased concentration of protein in the cerebrospinal fluid. HPO_CONTRIBUTOR:KI_phemming PMID:29114301 The presence in the serum of an autoantibody directed against the Fc portion of IgG. SNOMEDCT_US:165839004 UMLS:C0151379 human_phenotype HP:0002923 Rheumatoid factor positive HP:0002923 The presence in the serum of an autoantibody directed against the Fc portion of IgG. https://orcid.org/0000-0002-0736-9199 HP:0004319 human_phenotype HP:0002924 obsolete Decreased circulating aldosterone level true HP:0002924 Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. SNOMEDCT_US:309080005 UMLS:C0586553 Elevated thyroid stimulating hormone Elevated thyroid stimulating hormone levels High TSH Increased serum thyroid-stimulating hormone Increased thyroid-stimulating hormone Increased thyroid-stimulating hormone level Increased thyrotropin level TSH excess Thyroid-stimulating hormone excess human_phenotype HP:0002925 Elevated circulating thyroid-stimulating hormone concentration HP:0002925 Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. https://orcid.org/0000-0002-0538-4547 High TSH TSH excess An abnormal functionality of the thyroid gland. UMLS:C0857576 Abnormal thyroid function human_phenotype HP:0002926 Abnormality of thyroid physiology HP:0002926 An abnormal functionality of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Abnormal thyroid function https://orcid.org/0000-0002-5316-1399 An increased concentration of histidine in the urine. SNOMEDCT_US:78311009 UMLS:C0268642 Elevated histidine in urine High urine histidine levels human_phenotype HP:0002927 Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. Histidinuria HP:0002927 An increased concentration of histidine in the urine. PMID:18901181 PMID:20240447 https://orcid.org/0000-0002-0736-9199 High urine histidine levels https://orcid.org/0000-0001-5208-3432 UMLS:C1839888 Decreased activity of the PDH complex Pyruvate dehydrogenase complex deficiency human_phenotype HP:0002928 Decreased activity of the pyruvate dehydrogenase complex HP:0002928 UMLS:C4025668 human_phenotype HP:0002929 Leydig cell insensitivity to gonadotropin HP:0002929 Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. HP:0008215 HP:0008243 HP:0008262 SNOMEDCT_US:111567006 SNOMEDCT_US:237559000 SNOMEDCT_US:237560005 SNOMEDCT_US:50375007 UMLS:C2940786 Elevated serum levels of free thyroid hormone with nonsuppressed TSH End-organ unresponsiveness to thyroid hormone Resistance to thyroid hormone Thyroid hormone receptor defect Thyroid hormone resistance human_phenotype HP:0002930 Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4. Impaired sensitivity to thyroid hormone HP:0002930 Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. PMID:24847459 https://orcid.org/0000-0002-0538-4547 true HP:0002931 A reduction in aldehyde oxidase level. SNOMEDCT_US:124161002 UMLS:C1291266 human_phenotype HP:0002932 Aldehyde oxidase generates carboxylic acids from aldehydes. Aldehyde oxidase deficiency HP:0002932 A reduction in aldehyde oxidase level. https://orcid.org/0000-0002-0736-9199 Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. SNOMEDCT_US:414396006 UMLS:C0019326 human_phenotype HP:0002933 Ventral hernia HP:0002933 Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-5316-1399 true HP:0002934 true HP:0002935 An abnormal reduction in sensation in the distal portions of the extremities. HP:0003476 HP:0006843 HP:0006845 HP:0006922 HP:0006971 HP:0006993 HP:0007138 HP:0007292 HP:0007296 UMLS:C1847584 Decreased distal sensation Decreased sensation in extremities Distal sensation loss Distal sensory impairment in lower limbs Distal sensory impairment of the lower extremities Distal sensory loss Distal sensory loss, upper and lower limbs Loss of distal sensation human_phenotype HP:0002936 Distal sensory impairment HP:0002936 An abnormal reduction in sensation in the distal portions of the extremities. https://orcid.org/0000-0002-0736-9199 Decreased sensation in extremities https://orcid.org/0000-0002-6548-5200 Absence of one half of the vertebral body. SNOMEDCT_US:68359008 UMLS:C0265677 Hemi-vertebrae Hemivertebra Missing part of vertebrae human_phenotype HP:0002937 Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. Hemivertebrae HP:0002937 Absence of one half of the vertebral body. https://orcid.org/0000-0002-0736-9199 Hemi-vertebrae https://orcid.org/0000-0001-5208-3432 Missing part of vertebrae https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 An abnormal accentuation of the inward curvature of the spine in the lumbar region. HP:0002941 HP:0004560 HP:0004574 HP:0004596 UMLS:C1184923 Exaggerated lumbar lordosis Excessive inward curvature of lower spine Increased lumbar lordosis Lumbar lordosis Prominent lumbar lordosis human_phenotype HP:0002938 Lumbar hyperlordosis HP:0002938 An abnormal accentuation of the inward curvature of the spine in the lumbar region. https://orcid.org/0000-0002-0736-9199 Excessive inward curvature of lower spine https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0002939 true HP:0002940 true HP:0002941 Over curvature of the thoracic region, leading to a round back or if sever to a hump. UMLS:C1184919 Accentuated thoracic kyphosis Exaggerated thoracic kyphosis human_phenotype HP:0002942 Thoracic kyphosis HP:0002942 Over curvature of the thoracic region, leading to a round back or if sever to a hump. https://orcid.org/0000-0002-0736-9199 HP:0004615 UMLS:C1857790 human_phenotype HP:0002943 Thoracic scoliosis HP:0002943 HP:0004567 HP:0004585 UMLS:C0749379 Scoliosis, thoracolumbar human_phenotype HP:0002944 Thoracolumbar scoliosis HP:0002944 Decreased height of the intervertebral disk. SNOMEDCT_US:11301007 UMLS:C0263870 Narrow intervertebral disc spaces Narrow intervertebral disk spaces Narrow intervertebral spaces human_phenotype HP:0002945 A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. Intervertebral space narrowing HP:0002945 Decreased height of the intervertebral disk. https://orcid.org/0000-0002-0736-9199 Narrow intervertebral disc spaces SNOMEDCT_US:87294007 UMLS:C0265681 human_phenotype HP:0002946 Supernumerary vertebrae HP:0002946 Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. SNOMEDCT_US:298393001 UMLS:C0575170 Rounded neck human_phenotype HP:0002947 Cervical kyphosis HP:0002947 Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. https://orcid.org/0000-0002-0736-9199 Rounded neck https://orcid.org/0000-0001-6908-9849 A developmental defect leading to the union of two adjacent vertebrae. HP:0002807 HP:0008471 HP:0008485 UMLS:C1835763 UMLS:C1849073 UMLS:C3278509 Congenital spinal fusion Congenitally fused vertebrae Fusion of vertebral bodies Vertebral body fusion human_phenotype HP:0002948 Vertebral fusion HP:0002948 A developmental defect leading to the union of two adjacent vertebrae. https://orcid.org/0000-0002-0736-9199 A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. UMLS:C3887527 Cervical spine fusion Cervical vertebral fusion Fused neck Fusion of cervical vertebrae human_phenotype HP:0002949 Fused cervical vertebrae HP:0002949 Cervical spine fusion https://orcid.org/0000-0001-6908-9849 Fused neck https://orcid.org/0000-0001-6908-9849 true HP:0002950 Congenital absence of a part of the vermis of cerebellum. UMLS:C4025667 human_phenotype HP:0002951 Partial absence of cerebellar vermis HP:0002951 Congenital absence of a part of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 true HP:0002952 SNOMEDCT_US:42942008 SNOMEDCT_US:84138006 UMLS:C0262431 UMLS:C0410550 Compression fracture of a vertebral body Fractures of vertebral bodies Vertebral body compression Vertebral collapse Vertebral compression Vertebral compression fractures Vertebral compression or collapse human_phenotype HP:0002953 Vertebral compression fracture HP:0002953 Compression fracture of a vertebral body https://orcid.org/0000-0001-6908-9849 Vertebral compression fractures true HP:0002954 A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. SNOMEDCT_US:443138004 SNOMEDCT_US:44328006 UMLS:C0521173 human_phenotype HP:0002955 This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). Granulomatosis HP:0002955 A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. PMID:10908370 PMID:937513 https://orcid.org/0000-0002-0736-9199 true HP:0002956 true HP:0002957 Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. UMLS:C1844666 Immune dysregulation Unregulated immune response human_phenotype HP:0002958 Immune dysregulation HP:0002958 Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. PMID:26233425 Immune dysregulation Unregulated immune response https://orcid.org/0000-0001-6908-9849 An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. UMLS:C1842528 Impaired B-lymphocyte isotype switching human_phenotype HP:0002959 The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. Impaired Ig class switch recombination HP:0002959 An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. PMID:11544001 https://orcid.org/0000-0002-0736-9199 The occurrence of an immune reaction against the organism's own cells or tissues. SNOMEDCT_US:85828009 UMLS:C0004364 Autoimmune condition Autoimmune disease Autoimmune disorder Autoimmunity human_phenotype HP:0002960 Autoimmunity HP:0002960 The occurrence of an immune reaction against the organism's own cells or tissues. https://orcid.org/0000-0002-0736-9199 Autoimmune disease Autoimmune disorder Autoimmunity HP:0010701 human_phenotype HP:0002961 obsolete Dysgammaglobulinemia true HP:0002961 true HP:0002962 Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. UMLS:C1833172 human_phenotype HP:0002963 This is an immune function test measuring the presence of activated T cells that recognize a certain substance. Abnormal delayed hypersensitivity skin test HP:0002963 Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. https://orcid.org/0000-0002-0736-9199 true HP:0002964 Inability to react to a delayed hypersensitivity skin test. HP:0005427 UMLS:C1855781 Absence of delayed hypersensitivity skin test Lack of delayed skin hypersensitivity reaction human_phenotype HP:0002965 Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. Cutaneous anergy HP:0002965 Inability to react to a delayed hypersensitivity skin test. https://orcid.org/0000-0002-0736-9199 true HP:0002966 Abnormal positioning in which the elbows are turned out. SNOMEDCT_US:54583007 UMLS:C0158465 Outward turned elbows human_phenotype HP:0002967 Cubitus valgus HP:0002967 Abnormal positioning in which the elbows are turned out. https://orcid.org/0000-0002-0736-9199 Outward turned elbows https://orcid.org/0000-0001-6908-9849 true HP:0002968 true HP:0002969 A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. HP:0003052 SNOMEDCT_US:299331007 UMLS:C0544755 Genu vara Genua vara Outward bow-leggedness Outward bowing at knees human_phenotype HP:0002970 Genu varum HP:0002970 A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. https://orcid.org/0000-0002-0736-9199 Outward bow-leggedness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Outward bowing at knees https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. UMLS:C1833173 human_phenotype HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes HP:0002971 Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. PMID:15130947 Decreased ability to react to a delayed hypersensitivity skin test. HP:0005434 UMLS:C1843386 Decreased reactivity to skin test antigens Deficiency of delayed skin hypersensitivity Impaired delayed hypersensitivity human_phenotype HP:0002972 Reduced delayed hypersensitivity HP:0002972 Decreased ability to react to a delayed hypersensitivity skin test. https://orcid.org/0000-0002-0736-9199 An abnormality of the lower arm. UMLS:C4025666 Abnormality of the forearm human_phenotype HP:0002973 Abnormal forearm morphology HP:0002973 An abnormality of the lower arm. https://orcid.org/0000-0002-0736-9199 Abnormality of the forearm An abnormal osseous union (fusion) between the radius and the ulna. HP:0003962 MEDDRA:10037798 SNOMEDCT_US:33313004 UMLS:C0158761 Fused forearm bones human_phenotype HP:0002974 Radioulnar synostosis HP:0002974 An abnormal osseous union (fusion) between the radius and the ulna. https://orcid.org/0000-0002-0736-9199 MEDDRA:10037798 Radioulnar synostosis Fused forearm bones true HP:0002975 true HP:0002976 Absence or underdevelopment of tissue in the central nervous system. 2008-03-31T05:13:00Z HP:0001323 UMLS:C4025665 Absent/underdeveloped central nervous system tissue Aplasia/Hypoplasia involving the CNS human_phenotype HP:0002977 Aplasia/Hypoplasia involving the central nervous system HP:0002977 Absence or underdevelopment of tissue in the central nervous system. https://orcid.org/0000-0002-0736-9199 Absent/underdeveloped central nervous system tissue https://orcid.org/0000-0001-5208-3432 Aplasia/Hypoplasia involving the CNS true HP:0002978 A bending or abnormal curvature affecting a long bone of the leg. HP:0006428 SNOMEDCT_US:299331007 UMLS:C0544755 Bow legs Bow-leggedness Bowed legs Bowed lower limbs human_phenotype HP:0002979 Bowing of the legs HP:0002979 A bending or abnormal curvature affecting a long bone of the leg. https://orcid.org/0000-0002-0736-9199 Bowed legs Bowed lower limbs Bowing (abnormal curvature) of the femur. HP:0004998 UMLS:C1859461 Bowed femur Bowed femura Bowed femurs Bowed thighbone human_phenotype HP:0002980 Femoral bowing HP:0002980 Bowing (abnormal curvature) of the femur. https://orcid.org/0000-0002-0736-9199 Bowed femura https://orcid.org/0000-0002-5316-1399 Bowed femurs https://orcid.org/0000-0002-5316-1399 Bowed thighbone https://orcid.org/0000-0001-5208-3432 An abnormality of the calf, i.e. of the posterior part of the lower leg. UMLS:C4021832 Abnormality of the calf human_phenotype HP:0002981 Abnormality of the calf HP:0002981 An abnormality of the calf, i.e. of the posterior part of the lower leg. https://orcid.org/0000-0002-0736-9199 Abnormality of the calf A bending or abnormal curvature of the tibia. HP:0006363 UMLS:C1837081 Bowed shankbone Bowed shinbone Bowed tibia Bowing of the tibia human_phenotype HP:0002982 A developmental defect with posteromedial tibial angulation. Tibial bowing HP:0002982 A bending or abnormal curvature of the tibia. https://orcid.org/0000-0002-0736-9199 Bowed shankbone https://orcid.org/0000-0001-5208-3432 Bowed shinbone https://orcid.org/0000-0001-5208-3432 The presence of abnormally small extremities. HP:0003030 HP:0005753 MEDDRA:10027546 SNOMEDCT_US:74370006 UMLS:C0025995 Smaller or shorter than typical limbs human_phenotype HP:0002983 Micromelia HP:0002983 The presence of abnormally small extremities. https://orcid.org/0000-0002-0736-9199 MEDDRA:10027546 Micromelia Smaller or shorter than typical limbs https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Underdevelopment of the radius. HP:0002995 HP:0004989 HP:0005014 HP:0005081 HP:0005714 HP:0006418 SNOMEDCT_US:205170001 SNOMEDCT_US:93288001 UMLS:C0685381 UMLS:C1840087 Hypoplastic radii Hypoplastic radius Radial hypoplasia Short radii Short radius Shortening of radius Underdeveloped outer large forearm bone human_phenotype Radial ray hypoplasia HP:0002984 Hypoplasia of the radius HP:0002984 Underdevelopment of the radius. https://orcid.org/0000-0002-0736-9199 Underdeveloped outer large forearm bone https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0002985 A bending or abnormal curvature of the radius. HP:0004996 UMLS:C1859399 Bowed radii Bowed radius Bowing of outer large bone of the forearm Bowing of radius bone of the forearm human_phenotype HP:0002986 Radial bowing HP:0002986 A bending or abnormal curvature of the radius. https://orcid.org/0000-0002-0736-9199 Bowing of outer large bone of the forearm https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Bowing of radius bone of the forearm https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. HP:0003937 HP:0004984 HP:0005654 SNOMEDCT_US:202271004 UMLS:C0409338 Elbow flexion contractures Elbow flexion deformity Fixed flexion at the elbow joint human_phenotype HP:0002987 Elbow flexion contracture HP:0002987 An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. https://orcid.org/0000-0002-0736-9199 true HP:0002988 true HP:0002989 Absence of the fibula. HP:0006373 MEDDRA:10054882 UMLS:C1836186 Absent calf bone Absent fibulae Absent-hypoplastic fibulae human_phenotype HP:0002990 Fibular aplasia HP:0002990 Absence of the fibula. https://orcid.org/0000-0002-0736-9199 MEDDRA:10054882 Fibula agenesis Absent calf bone https://orcid.org/0000-0001-5208-3432 An anomaly of the calf bone (fibula), one of the two bones of the calf. UMLS:C4025664 Abnormality of fibula morphology Abnormality of the calf bone human_phenotype HP:0002991 Abnormal fibula morphology HP:0002991 An anomaly of the calf bone (fibula), one of the two bones of the calf. https://orcid.org/0000-0002-0736-9199 Abnormality of the calf bone https://orcid.org/0000-0001-5208-3432 Abnormality of the tibia (shinbone). UMLS:C4025663 Abnormality of the shankbone Abnormality of the shinbone Abnormality of tibia morphology human_phenotype HP:0002992 Abnormal tibia morphology HP:0002992 Abnormality of the tibia (shinbone). https://orcid.org/0000-0002-0736-9199 Abnormality of the shankbone https://orcid.org/0000-0001-6908-9849 Abnormality of the shinbone https://orcid.org/0000-0001-6908-9849 true HP:0002993 true HP:0002994 true HP:0002995 HP:0006395 UMLS:C1849955 Decreased elbow mobility Limited elbow mobility Limited elbow movement Restricted elbow motion human_phenotype HP:0002996 Limited elbow movement HP:0002996 Decreased elbow mobility Limited elbow mobility Limited elbow movement Restricted elbow motion HP:0040071 human_phenotype HP:0002997 obsolete Abnormality of the ulna true HP:0002997 true HP:0002998 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. SNOMEDCT_US:263029007 UMLS:C1135812 Dislocated kneecap Dislocated patellae Dislocation of patella human_phenotype HP:0002999 Patellar dislocation HP:0002999 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. https://orcid.org/0000-0002-0736-9199 Dislocated kneecap https://orcid.org/0000-0001-6908-9849 true HP:0003000 SNOMEDCT_US:127030001 SNOMEDCT_US:32037004 UMLS:C0017671 Glomus jugular tumour Glomus jugulare tumor Glomus jugulare tumors Glomus jugulare tumour Glomus jugulare tumours human_phenotype HP:0003001 Glomus jugular tumor HP:0003001 Glomus jugular tumour Glomus jugulare tumour Glomus jugulare tumours The presence of a carcinoma of the breast. NCIT:C2916 SNOMEDCT_US:254838004 UMLS:C0678222 Breast cancer human_phenotype HP:0003002 Breast carcinoma HP:0003002 The presence of a carcinoma of the breast. https://orcid.org/0000-0002-0736-9199 Breast cancer HP:0006718 SNOMEDCT_US:363406005 UMLS:C0007102 Colon cancer human_phenotype HP:0003003 Colon cancer HP:0003003 Colon cancer true HP:0003004 A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. SNOMEDCT_US:116371000119107 SNOMEDCT_US:128919000 SNOMEDCT_US:53801007 UMLS:C0017075 human_phenotype HP:0003005 Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. Ganglioneuroma HP:0003005 A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. https://orcid.org/0000-0002-0736-9199 Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. HP:0006738 NCIT:C3270 SNOMEDCT_US:432328008 SNOMEDCT_US:87364003 UMLS:C0027819 Cancer of early nerve cells human_phenotype HP:0003006 Neuroblastoma HP:0003006 Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. https://orcid.org/0000-0002-0736-9199 Cancer of early nerve cells https://orcid.org/0000-0002-6548-5200 true HP:0003007 true HP:0003008 UMLS:C4025661 human_phenotype HP:0003009 Enhanced neurotoxicity of vincristine HP:0003009 Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. HP:0008294 HP:0008337 UMLS:C0151529 Increased bleeding time Prolonged bleeding time human_phenotype HP:0003010 The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. Prolonged bleeding time HP:0003010 Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. https://orcid.org/0000-0002-5523-511X Prolonged bleeding time Abnormality originating in one or more muscles, i.e., of the set of muscles of body. HP:0003197 HP:0003708 HP:0040290 UMLS:C4021745 Muscular abnormality human_phenotype HP:0003011 Abnormality of the musculature HP:0003011 Abnormality originating in one or more muscles, i.e., of the set of muscles of body. https://orcid.org/0000-0002-0736-9199 Muscular abnormality true HP:0003012 A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). UMLS:C1833329 Bulging end part of bone human_phenotype HP:0003013 Bulging epiphyses HP:0003013 A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). https://orcid.org/0000-0002-0736-9199 Bulging end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0003014 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. HP:0000945 HP:0003047 HP:0004994 HP:0005015 HP:0005095 HP:0200002 UMLS:C1850135 Flared wide portion of long bone Flared, widened metaphyses Metaphyseal flaring Metaphyseal flaring of long bones Metaphyseal splaying Metaphyses flared Splayed metaphyses marked metaphyseal flaring of long bones human_phenotype HP:0003015 Figure 11 of PMID:12853662 shows metaphyseal flaring. Flared metaphysis HP:0003015 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. PMID:12853662 https://orcid.org/0000-0002-0736-9199 Flared wide portion of long bone https://orcid.org/0000-0001-5208-3432 Abnormal widening of the metaphyseal regions of long bones. HP:0005074 UMLS:C1849039 Broad wide portion of long bone Wide metaphyses Widened long bone metaphyses Widened metaphyses human_phenotype HP:0003016 Metaphyseal widening HP:0003016 Abnormal widening of the metaphyseal regions of long bones. https://orcid.org/0000-0002-0736-9199 Broad wide portion of long bone https://orcid.org/0000-0001-5208-3432 true HP:0003017 true HP:0003018 Abnormality of the wrist, the structure connecting the hand and the forearm. HP:0001224 UMLS:C4021744 Abnormalities of the wrists Abnormality of the wrist human_phenotype HP:0003019 Abnormality of the wrist HP:0003019 Abnormality of the wrist, the structure connecting the hand and the forearm. https://orcid.org/0000-0002-0736-9199 Abnormalities of the wrists Abnormality of the wrist UMLS:C1838663 Enlargement of the wrists human_phenotype HP:0003020 Enlargement of the wrists HP:0003020 Enlargement of the wrists Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. UMLS:C1837082 human_phenotype HP:0003021 Metaphyseal cupping HP:0003021 Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the ulna. HP:0002998 HP:0005842 HP:0006388 HP:0006444 UMLS:C1860614 UMLS:C1862132 Hypoplastic ulna Short ulna Short ulnae Ulnar hypoplasia Underdeveloped inner large forearm bone Underdeveloped ulna human_phenotype HP:0003022 Hypoplasia of the ulna HP:0003022 Underdevelopment of the ulna. https://orcid.org/0000-0002-0736-9199 Underdeveloped inner large forearm bone https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Underdeveloped ulna https://orcid.org/0000-0001-6908-9849 Curvature of the shafts of the long bones due to multiple fractures. UMLS:C1850178 Bowed limbs due to multiple fractures human_phenotype HP:0003023 Bowing of limbs due to multiple fractures HP:0003023 Curvature of the shafts of the long bones due to multiple fractures. https://orcid.org/0000-0002-0736-9199 true HP:0003024 Irregularity of the normally smooth surface of the metaphyses. HP:0003017 HP:0004995 HP:0005016 HP:0005032 HP:0005038 HP:0005058 HP:0005062 HP:0005065 HP:0005078 HP:0005896 UMLS:C1838662 Frayed, irregular metaphyses Frayed, irregular, metaphyses Irregular metaphyses Irregular wide portion of a long bone Metaphyseal fraying Metaphyseal irregularities human_phenotype HP:0003025 Metaphyseal irregularity HP:0003025 Irregularity of the normally smooth surface of the metaphyses. https://orcid.org/0000-0002-0736-9199 Irregular wide portion of a long bone https://orcid.org/0000-0001-5208-3432 One or more abnormally short long bone. HP:0000949 HP:0004983 HP:0004988 HP:0005000 HP:0005029 HP:0005044 HP:0005052 HP:0005077 HP:0005083 HP:0005647 HP:0005822 HP:0006382 HP:0006457 HP:0006472 UMLS:C1854912 Long bone shortening Short long bone Short tubular bones shortened long tubular bones human_phenotype HP:0003026 Long bones are also known as tubular bones. Short long bone HP:0003026 One or more abnormally short long bone. https://orcid.org/0000-0002-0736-9199 Long bone shortening Short long bone Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. UMLS:C0549306 Disproportionately short middle portion of limb Mesomelic limb shortening Mesomelic shortening of limbs Symmetric mesomelic limb shortness human_phenotype HP:0003027 Shortening of the limbs where the predominant shortness is in the middle bones. Mesomelia HP:0003027 Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. https://orcid.org/0009-0006-4530-3154 Disproportionately short middle portion of limb https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 An anomaly of the joint that connects the foot with the leg. UMLS:C4025660 Abnormality of the ankles human_phenotype HP:0003028 Abnormality of the ankle HP:0003028 Abnormality of the ankles UMLS:C1838664 Enlargement of the ankles human_phenotype HP:0003029 Enlargement of the ankles HP:0003029 Enlargement of the ankles true HP:0003030 Bending of the diaphysis (shaft) of the ulna. HP:0003983 UMLS:C1865847 Bowed ulna Curved ulna Curving of inner forearm bone human_phenotype HP:0003031 Ulnar bowing is usually in the convex posterior direction. Ulnar bowing HP:0003031 Bending of the diaphysis (shaft) of the ulna. https://orcid.org/0000-0002-0736-9199 Curving of inner forearm bone https://orcid.org/0000-0002-6548-5200 true HP:0003032 true HP:0003033 An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. HP:0005611 SNOMEDCT_US:318761000119105 SNOMEDCT_US:34643004 UMLS:C0011989 Craniodiaphyseal osteosclerosis Diaphyseal osteosclerosis Increased bone density in shaft of long bone human_phenotype HP:0003034 Diaphyseal sclerosis HP:0003034 An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in shaft of long bone https://orcid.org/0000-0001-5208-3432 true HP:0003035 true HP:0003036 Increase in size of one or more joints. UMLS:C1859111 Enlarged joints human_phenotype Prominent joints HP:0003037 Enlarged joints HP:0003037 Increase in size of one or more joints. https://orcid.org/0000-0002-0736-9199 Enlarged joints Underdevelopment of the fibula. HP:0002985 HP:0005887 HP:0006401 UMLS:C1832119 Hypoplastic fibula Short calf bone Short fibula Short fibulae human_phenotype HP:0003038 Fibular hypoplasia HP:0003038 Underdevelopment of the fibula. https://orcid.org/0000-0002-0736-9199 Short calf bone https://orcid.org/0000-0001-5208-3432 true HP:0003039 SNOMEDCT_US:399269003 UMLS:C0022408 Disease of the joints human_phenotype HP:0003040 Arthropathy HP:0003040 Disease of the joints https://orcid.org/0000-0002-6548-5200 An abnormal osseous union (fusion) between the radius and the humerus. HP:0003936 SNOMEDCT_US:205329008 UMLS:C1863360 UMLS:C2930865 Fusion of upper and lower arm bones Humeral radial synostosis Humeral-radial synostosis Radiohumeral synostosis of elbow Synostosis of radius and humerus human_phenotype HP:0003041 Humeroradial synostosis HP:0003041 An abnormal osseous union (fusion) between the radius and the humerus. https://orcid.org/0009-0006-4530-3154 Fusion of upper and lower arm bones https://orcid.org/0000-0002-6548-5200 Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. HP:0006411 SNOMEDCT_US:125617002 SNOMEDCT_US:417558002 UMLS:C1403299 UMLS:C1403321 UMLS:C2720437 Dislocations of the elbows Elbow dislocation Elbow dislocations Radiocapitellar dislocation Radiohumeral dislocation Ulnohumeral dislocation human_phenotype HP:0003042 Elbow dislocation HP:0003042 Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. https://orcid.org/0000-0002-0736-9199 Dislocations of the elbows Elbow dislocation Elbow dislocations An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. UMLS:C4025659 Abnormality of the shoulder human_phenotype HP:0003043 Abnormal shoulder morphology HP:0003043 An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. https://orcid.org/0000-0002-0736-9199 Abnormality of the shoulder Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. SNOMEDCT_US:202265005 UMLS:C0409336 human_phenotype HP:0003044 Shoulder flexion contracture HP:0003044 Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. https://orcid.org/0000-0002-0736-9199 Abnormality of the patella (knee cap). UMLS:C4021743 Abnormal kneecap Abnormality of the patella Patellar abnormality human_phenotype HP:0003045 Abnormal patella morphology HP:0003045 Abnormality of the patella (knee cap). https://orcid.org/0000-0002-0736-9199 Abnormal kneecap https://orcid.org/0000-0001-5208-3432 true HP:0003046 true HP:0003047 Partial dislocation of the head of the radius. SNOMEDCT_US:417109008 SNOMEDCT_US:95854004 UMLS:C0149977 Radial subluxation Radial-head subluxation human_phenotype HP:0003048 Radial head subluxation HP:0003048 Partial dislocation of the head of the radius. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:43689004 UMLS:C0231678 Ulnar deviation of wrists human_phenotype HP:0003049 Ulnar deviation of the wrist HP:0003049 true HP:0003050 Abnormal increase in size of one or more metaphyses. HP:0005018 UMLS:C1855544 Enlarged wide portion of a long bone human_phenotype HP:0003051 Enlarged metaphyses HP:0003051 Abnormal increase in size of one or more metaphyses. https://orcid.org/0000-0002-0736-9199 Enlarged wide portion of a long bone https://orcid.org/0000-0001-5889-4463 true HP:0003052 UMLS:C1854786 human_phenotype HP:0003053 Epiphyseal deformities of tubular bones HP:0003053 true HP:0003054 true HP:0003055 true HP:0003056 Amelia of all four limbs. SNOMEDCT_US:702313004 UMLS:C2931216 Tetra-amelia human_phenotype HP:0003057 Tetraamelia HP:0003057 Amelia of all four limbs. https://orcid.org/0009-0006-4530-3154 Tetra-amelia https://orcid.org/0009-0006-4530-3154 true HP:0003058 UMLS:C4025658 human_phenotype HP:0003059 Abnormality of the radioulnar joints HP:0003059 true HP:0003060 true HP:0003061 true HP:0003062 HP:0031095 human_phenotype HP:0003063 obsolete Abnormality of the humerus true HP:0003063 true HP:0003064 Underdevelopment of the patella. HP:0005020 UMLS:C1840068 Hypoplastic patellae Small kneecap Small patella Small patellae Underdeveloped kneecap human_phenotype HP:0003065 Patellar hypoplasia HP:0003065 Underdevelopment of the patella. https://orcid.org/0000-0002-0736-9199 Small kneecap https://orcid.org/0000-0001-6908-9849 Underdeveloped kneecap https://orcid.org/0000-0001-6908-9849 Reduced ability to extend (straighten) the knee joint. UMLS:C1844690 Limited knee straightening human_phenotype HP:0003066 Limited knee extension HP:0003066 Limited knee straightening An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. SNOMEDCT_US:4530000 UMLS:C0152441 Madelung wrist deformity human_phenotype HP:0003067 Madelung deformity HP:0003067 An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. PMID:12362035 https://orcid.org/0000-0002-0736-9199 UMLS:C1851419 human_phenotype HP:0003068 Madelung-like forearm deformities HP:0003068 true HP:0003069 SNOMEDCT_US:202307002 UMLS:C0409477 human_phenotype HP:0003070 Elbow ankylosis HP:0003070 Abnormal flatness (decreased height) of epiphyses. HP:0004982 HP:0005051 HP:0005076 HP:0005080 UMLS:C1857527 Flat end part of bone Flat epiphyses human_phenotype HP:0003071 Flattened epiphysis HP:0003071 Abnormal flatness (decreased height) of epiphyses. https://orcid.org/0000-0002-0736-9199 Flat end part of bone https://orcid.org/0000-0001-5208-3432 The concentration of calcium in the blood circulation is above the upper limit of normal. HP:0008250 SNOMEDCT_US:166702002 SNOMEDCT_US:66931009 UMLS:C0020437 Elevated calcium(2+) concentration Elevated calcium(2+) level Elevated calcium(2+) level in blood High blood calcium levels Hypercalcaemia Hypercalcemia Increased calcium in blood Increased calcium(2+) concentration Increased calcium(2+) level Increased calcium(2+) level in blood human_phenotype HP:0003072 Hypercalcemia HP:0003072 High blood calcium levels https://orcid.org/0000-0001-6908-9849 Increased calcium in blood https://orcid.org/0000-0001-5208-3432 The concentration of albumin in the blood circulation is below the lower limit of normal. Low albumin SNOMEDCT_US:119247004 UMLS:C0239981 Decreased albumin concentration Decreased albumin level Decreased albumin level in blood Decreased circulating abumin concentration Hypoalbuminaemia Hypoalbuminemia Low blood albumin Reduced albumin concentration Reduced albumin level Reduced albumin level in blood human_phenotype HP:0003073 Hypoalbuminemia HP:0003073 Low albumin Low blood albumin An increased concentration of glucose in the blood. SNOMEDCT_US:237598005 SNOMEDCT_US:80394007 UMLS:C0020456 High blood glucose High blood sugar human_phenotype HP:0003074 Hyperglycemia HP:0003074 An increased concentration of glucose in the blood. https://orcid.org/0000-0002-0736-9199 High blood glucose https://orcid.org/0000-0001-6908-9849 High blood sugar https://orcid.org/0000-0001-6908-9849 A decreased concentration of protein in the blood. SNOMEDCT_US:8900005 UMLS:C0020639 Decreased protein levels in blood human_phenotype HP:0003075 Hypoproteinemia HP:0003075 A decreased concentration of protein in the blood. HPO_CONTRIBUTOR:gcarletti Decreased protein levels in blood https://orcid.org/0000-0002-6548-5200 An increased concentration of glucose in the urine. HP:0003122 HP:0011016 SNOMEDCT_US:45154002 UMLS:C0017979 Glucose in urine Glucosuria human_phenotype HP:0003076 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. Glycosuria HP:0003076 An increased concentration of glucose in the urine. HPO_CONTRIBUTOR:gcarletti Glucose in urine https://orcid.org/0000-0002-6548-5200 An elevated lipid concentration in the blood. HP:0008159 HP:0008356 SNOMEDCT_US:55822004 UMLS:C0020473 Elevated lipids in blood human_phenotype HP:0003077 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). Hyperlipidemia HP:0003077 An elevated lipid concentration in the blood. https://orcid.org/0000-0002-0736-9199 Elevated lipids in blood https://orcid.org/0000-0002-6548-5200 true HP:0003078 UMLS:C1968564 human_phenotype HP:0003079 Defective DNA repair after ultraviolet radiation damage HP:0003079 An increased concentration of 4-hydroxy-L-proline in the urine. UMLS:C0948585 Elevated urinary hydroxyproline human_phenotype HP:0003080 Hydroxyprolinuria HP:0003080 An increased concentration of 4-hydroxy-L-proline in the urine. HPO_CONTRIBUTOR:gcarletti Elevated urinary hydroxyproline An increased concentration of potassium(1+) in the urine. UMLS:C1846351 Hyperkaliuresis Increased urinary K Increased urinary potassium human_phenotype HP:0003081 Increased urinary potassium HP:0003081 An increased concentration of potassium(1+) in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary K Increased urinary potassium true HP:0003082 A dislocation of the head of the radius from its socket in the elbow joint. HP:0002975 HP:0005673 HP:0005836 SNOMEDCT_US:9634000 UMLS:C0265563 Congenital radial head dislocation Dislocated radius Dislocation of radial head Dislocation of the radial head Radial dislocation Radial head dislocation Radial head dislocation/subluxation human_phenotype Dislocated radial heads HP:0003083 Dislocated radial head HP:0003083 A dislocation of the head of the radius from its socket in the elbow joint. https://orcid.org/0000-0002-0736-9199 Dislocated radial heads https://orcid.org/0000-0002-5316-1399 An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). HP:0005847 UMLS:C0240231 Fractures of the long bones Increased long bone fracture rate human_phenotype HP:0003084 Recurrent long bone fractures HP:0003084 An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). https://orcid.org/0000-0002-0736-9199 Disproportionately long fibulae. UMLS:C1848109 Disproportionately long fibula Long calf bone Long fibula human_phenotype HP:0003085 Long fibula HP:0003085 Disproportionately long fibulae. https://orcid.org/0000-0002-0736-9199 Long calf bone https://orcid.org/0000-0001-5208-3432 Long fibula Small hands and feet. UMLS:C1864365 human_phenotype HP:0003086 Acromesomelia HP:0003086 Small hands and feet. PMID:22286749 https://orcid.org/0000-0002-0736-9199 true HP:0003087 UMLS:C1835121 Premature arthritis Premature osteoarthritis human_phenotype HP:0003088 Premature osteoarthritis HP:0003088 Premature arthritis Premature osteoarthritis SNOMEDCT_US:203074005 UMLS:C0410266 Hamstring contractures human_phenotype HP:0003089 Hamstring contractures HP:0003089 Hamstring contractures Underdevelopment of the proximal epiphysis of the femur. HP:0003374 HP:0008791 HP:0008792 UMLS:C1839254 Small capital femoral epiphyses Small femoral capital epiphyses Small innermost thighbone end part Small proximal femoral epiphyses Underdevelopment of the innermost thighbone end part human_phenotype HP:0003090 Hypoplasia of the capital femoral epiphysis HP:0003090 Underdevelopment of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Small innermost thighbone end part https://orcid.org/0000-0001-5208-3432 Underdevelopment of the innermost thighbone end part https://orcid.org/0000-0001-5208-3432 Trophic changes occurring in a limb. UMLS:C4025657 human_phenotype HP:0003091 Trophic limb changes HP:0003091 Trophic changes occurring in a limb. https://orcid.org/0000-0002-0736-9199 true HP:0003092 Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. HP:0008810 UMLS:C3553368 Limited hip extension Restricted hip extension human_phenotype HP:0003093 Reduced ability to straighten out the femur. Limited hip extension HP:0003093 Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. https://orcid.org/0000-0002-0736-9199 Limited hip extension Restricted hip extension true HP:0003094 Infected joint SNOMEDCT_US:372939007 SNOMEDCT_US:396234004 UMLS:C0003869 UMLS:C4280547 human_phenotype HP:0003095 Septic arthritis HP:0003095 Infected joint https://orcid.org/0000-0001-6908-9849 true HP:0003096 An abnormal shortening of the femur. HP:0009749 SNOMEDCT_US:93255008 UMLS:C0345375 Femoral hypoplasia Hypoplasia of the femora Short femurs Short thighbone human_phenotype HP:0003097 Short femur HP:0003097 An abnormal shortening of the femur. https://orcid.org/0000-0002-0736-9199 Short thighbone https://orcid.org/0000-0001-5208-3432 true HP:0003098 Relatively increased growth of the fibula compared to that of the tibia. UMLS:C1864298 Overgrowth of calf bone human_phenotype HP:0003099 Fibular overgrowth HP:0003099 Relatively increased growth of the fibula compared to that of the tibia. PMID:17259417 https://orcid.org/0000-0002-0736-9199 Overgrowth of calf bone https://orcid.org/0000-0001-5208-3432 Reduced diameter of a long bone. HP:0003060 HP:0003061 HP:0003096 HP:0005064 UMLS:C1833144 Gracile long bones Long bones slender Slender long bone Slender, gracile long tubular bones Thin long bones Thin, gracile long bones human_phenotype Slender long bones Thin gracile long bones HP:0003100 Slender long bone HP:0003100 Reduced diameter of a long bone. https://orcid.org/0000-0002-0736-9199 Long bones slender Slender long bone Thin long bones Slender long bones https://orcid.org/0000-0002-5316-1399 true HP:0003101 An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. UMLS:C1855478 human_phenotype HP:0003102 Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. Increased carrying angle HP:0003102 An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. PMID:18506557 https://orcid.org/0000-0002-0736-9199 An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. UMLS:C4021741 Abnormal compact bone morphology Abnormality of cortical bone human_phenotype HP:0003103 Abnormal cortical bone morphology HP:0003103 An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. https://orcid.org/0009-0006-4530-3154 true HP:0003104 The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. UMLS:C1851418 Protuberances at ends of long bones human_phenotype HP:0003105 Protuberances at ends of long bones HP:0003105 The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. https://orcid.org/0000-0002-0736-9199 Protuberances at ends of long bones Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. UMLS:C1848541 Subperiosteal erosions human_phenotype HP:0003106 Subperiosteal bone resorption HP:0003106 Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. PMID:24849102 Any deviation from the normal concentration of cholesterol in the blood circulation. 2008-03-17T01:02:00Z HP:0003464 UMLS:C4025656 Abnormal cholesterol homeostasis Abnormality of cholesterol metabolism human_phenotype HP:0003107 Abnormal circulating cholesterol concentration HP:0003107 Abnormality of cholesterol metabolism An increased concentration of glycine in the urine. HP:0002931 SNOMEDCT_US:236477004 UMLS:C0341706 UMLS:C0543541 Glycinuria High urine glycine levels human_phenotype HP:0003108 Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. Hyperglycinuria HP:0003108 An increased concentration of glycine in the urine. HPO_CONTRIBUTOR:gcarletti PMID:18901181 PMID:20240447 High urine glycine levels https://orcid.org/0000-0001-5208-3432 An increased excretion of phosphates in the urine. HP:0003266 SNOMEDCT_US:22450000 UMLS:C0268079 UMLS:C0948023 High urine phosphate levels Phosphaturia human_phenotype HP:0003109 Hyperphosphaturia HP:0003109 An increased excretion of phosphates in the urine. https://orcid.org/0000-0002-0736-9199 High urine phosphate levels https://orcid.org/0000-0001-5208-3432 An abnormality of the composition of urine or the levels of its components. HP:0011865 HP:0011866 UMLS:C4025655 Pee issues Urine issues human_phenotype HP:0003110 Abnormality of urine homeostasis HP:0003110 An abnormality of the composition of urine or the levels of its components. https://orcid.org/0000-0002-0736-9199 Pee issues Urine issues Abnormality of the homeostasis (concentration) of a monoatomic ion. HP:0003253 SNOMEDCT_US:237840007 UMLS:C1704431 UMLS:C4025654 Abnormal blood ion concentration Abnormality of ion homeostasis Electrolyte disorders Electrolyte disturbance human_phenotype HP:0003111 Abnormal circulating electrolyte concentration HP:0003111 Abnormality of the homeostasis (concentration) of a monoatomic ion. https://orcid.org/0000-0002-0736-9199 Electrolyte disorders Any deviation from the normal concentration of amino acid in the blood circulation. UMLS:C4025653 Abnormal amino acid level Abnormal circulating amino acid concentration Abnormality of serum amino acid level Abnormality of serum amino acid levels human_phenotype HP:0003112 Abnormal circulating amino acid concentration HP:0003112 Abnormality of serum amino acid levels The concentration of chloride in the blood circulation is below the lower limit of normal. SNOMEDCT_US:10399008 UMLS:C0085680 UMLS:C0595901 Decreased chloride concentration Decreased chloride level Decreased chloride level in blood Hypochloremia Low blood chloride levels Reduced chloride concentration Reduced chloride level Reduced chloride level in blood human_phenotype HP:0003113 Hypochloremia HP:0003113 Low blood chloride levels https://orcid.org/0000-0001-5208-3432 HP:0001626 human_phenotype HP:0003114 obsolete Abnormal cardiological findings true HP:0003114 Abnormal rhythm of the heart. SNOMEDCT_US:102594003 UMLS:C0522055 Abnormal ECG Abnormal EKG Abnormal electrocardiogram EKG abnormality human_phenotype HP:0003115 Abnormal EKG HP:0003115 Abnormal ECG Abnormal EKG EKG abnormality HP:0001626 human_phenotype HP:0003116 obsolete Abnormal echocardiogram true HP:0003116 Concentration of a hormone in the blood circulation outside of normal limits. UMLS:C4025652 Abnormal circulating hormone level Abnormality of circulating hormone level human_phenotype HP:0003117 Abnormal circulating hormone concentration HP:0003117 Concentration of a hormone in the blood circulation outside of normal limits. https://orcid.org/0000-0002-0736-9199 Abnormality of circulating hormone level Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. HP:0000850 HP:0001578 HP:0004316 SNOMEDCT_US:237735008 SNOMEDCT_US:275437005 SNOMEDCT_US:47270006 UMLS:C0001622 UMLS:C0342443 UMLS:C4025651 Cushing syndrome Hypercortisolism Increased circulating cortisol level Increased cortisol production human_phenotype HP:0003118 Increased circulating cortisol level HP:0003118 Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. https://orcid.org/0000-0002-0538-4547 Hypercortisolism https://orcid.org/0000-0002-5316-1399 Increased circulating cortisol level Any deviation from the normal concentration of a lipid in the blood circulation. HP:0003611 SNOMEDCT_US:370992007 UMLS:C0242339 UMLS:C4025650 human_phenotype Dyslipidaemia Dyslipidemia HP:0003119 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. Abnormal circulating lipid concentration HP:0003119 Any deviation from the normal concentration of a lipid in the blood circulation. https://orcid.org/0000-0002-0736-9199 Dyslipidaemia true HP:0003120 A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. HP:0005631 HP:0005839 UMLS:C1969879 Limb contractures human_phenotype HP:0003121 Limb joint contracture HP:0003121 A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. https://orcid.org/0000-0002-0736-9199 Limb contractures true HP:0003122 true HP:0003123 An increased concentration of cholesterol in the blood. HP:0008154 HP:0008173 HP:0008359 High cholesterol SNOMEDCT_US:13644009 SNOMEDCT_US:166830008 UMLS:C0020443 UMLS:C0595929 Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol human_phenotype HP:0003124 Hypercholesterolemia HP:0003124 An increased concentration of cholesterol in the blood. HPO_CONTRIBUTOR:gcarletti High cholesterol Elevated serum cholesterol Elevated total cholesterol Increased total cholesterol Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. HP:0008349 HP:0008355 SNOMEDCT_US:234440005 UMLS:C3494187 UMLS:C4025649 human_phenotype Factor VIII deficiency HP:0003125 Reduced factor VIII activity HP:0003125 Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. https://orcid.org/0000-0002-0736-9199 Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). UMLS:C1839606 Tubular proteinuria human_phenotype HP:0003126 Low-molecular-weight proteinuria HP:0003126 Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). PMID:95574 An abnormally decreased calcium concentration in the urine. SNOMEDCT_US:86353007 UMLS:C0020599 Low urine calcium levels human_phenotype HP:0003127 Hypocalciuria HP:0003127 An abnormally decreased calcium concentration in the urine. https://orcid.org/0000-0002-0736-9199 Low urine calcium levels https://orcid.org/0000-0001-5208-3432 An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. HP:0003255 HP:0005960 SNOMEDCT_US:190882007 SNOMEDCT_US:91273001 UMLS:C0001125 UMLS:C0347959 Hyperlacticacidemia Increased lactate in body Lactic acidemia Lacticacidemia Lacticacidosis human_phenotype HP:0003128 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. Lactic acidosis HP:0003128 An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. https://orcid.org/0000-0002-0736-9199 Increased lactate in body https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0003129 An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. HP:0003408 UMLS:C4025648 human_phenotype HP:0003130 This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). Abnormal peripheral myelination HP:0003130 An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. HPO_CONTRIBUTOR:jbaets https://orcid.org/0000-0002-9102-5232 An increased concentration of cystine in the urine. SNOMEDCT_US:85020001 UMLS:C0010691 High urine cystine levels human_phenotype Nitroprusside-cyanide urine test positive HP:0003131 Cystine is a sulfur-containing amino acid. Cystinuria HP:0003131 An increased concentration of cystine in the urine. HPO_CONTRIBUTOR:gcarletti High urine cystine levels https://orcid.org/0000-0001-5208-3432 true HP:0003132 An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. UMLS:C4025647 Abnormality of the spinocerebellar tracts human_phenotype HP:0003133 Abnormal spinocerebellar tract morphology HP:0003133 An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. https://orcid.org/0000-0002-0736-9199 An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). HP:0006832 HP:0007186 UMLS:C4020690 Sensory and motor nerve conduction abnormalities human_phenotype Abnormal peripheral nerve transmission HP:0003134 A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introduced to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. Abnormality of peripheral nerve conduction HP:0003134 An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). https://orcid.org/0000-0002-0736-9199 true HP:0003135 true HP:0003136 Level of proline in the urine anove the upper limit of normal. SNOMEDCT_US:53124003 UMLS:C0268534 Proline high in urine human_phenotype HP:0003137 Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. Prolinuria HP:0003137 Level of proline in the urine anove the upper limit of normal. https://orcid.org/0000-0002-0736-9199 An increased amount of nitrogen in the form of urea in the blood. UMLS:C0151539 Increased BUN Increased blood urea nitrogen human_phenotype HP:0003138 Increased blood urea nitrogen HP:0003138 An increased amount of nitrogen in the form of urea in the blood. HPO_CONTRIBUTOR:gcarletti Increased BUN Increased blood urea nitrogen A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. UMLS:C1328587 Panhypogammaglobulinaemia Panypogammaglobulinemia human_phenotype HP:0003139 Panhypogammaglobulinemia HP:0003139 A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. PMID:23726535 Panhypogammaglobulinaemia UMLS:C4025646 human_phenotype HP:0003140 T-wave inversion in the right precordial leads HP:0003140 The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. HP:0008343 SNOMEDCT_US:190773008 SNOMEDCT_US:398036000 UMLS:C0020445 UMLS:C0549399 Elevated circulating LDL-C concentration Elevated low-density lipoprotein cholesterol concentration Elevated low-density lipoprotein cholesterol level Elevated low-density lipoprotein cholesterol level in blood Hyperbetalipoproteinemia Increased LDL cholesterol Increased LDLc concentration Increased beta-lipoproteins Increased circulating LDL level Increased circulating low-density lipoprotein cholesterol Increased circulating low-density lipoprotein levels Increased low-density lipoprotein cholesterol concentration Increased low-density lipoprotein cholesterol level Increased low-density lipoprotein cholesterol level in blood Increased plasma LDL levels human_phenotype HP:0003141 Elevated circulating LDL-C concentration HP:0003141 Increased LDL cholesterol Increased LDLc concentration Increased circulating LDL level https://orcid.org/0000-0001-5208-3432 Increased plasma LDL levels UMLS:C4025645 human_phenotype HP:0003142 Excessive purine production HP:0003142 true HP:0003143 A increased concentration of serotonin in the blood. UMLS:C0877243 Increased serum serotonin human_phenotype HP:0003144 Increased serum serotonin HP:0003144 A increased concentration of serotonin in the blood. https://orcid.org/0000-0002-0736-9199 Increased serum serotonin The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. UMLS:C1848556 Decreased ADOCBL human_phenotype HP:0003145 Decreased circulating adenosylcobalamin concentration HP:0003145 The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. https://orcid.org/0000-0002-0736-9199 An decreased concentration of cholesterol in the blood. SNOMEDCT_US:61336008 UMLS:C0151718 Decreased circulating cholesterol level human_phenotype HP:0003146 Hypocholesterolemia HP:0003146 An decreased concentration of cholesterol in the blood. HPO_CONTRIBUTOR:gcarletti Decreased circulating cholesterol level https://orcid.org/0000-0001-5208-3432 true HP:0003147 UMLS:C1839866 Acid phosphatase elevated Elevated serum acid phosphatase human_phenotype HP:0003148 Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. Elevated serum acid phosphatase HP:0003148 Acid phosphatase elevated Elevated serum acid phosphatase An abnormally high level of uric acid in the urine. HP:0012611 UMLS:C0948643 High urine uric acid level Increased urinary urate human_phenotype HP:0003149 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. Hyperuricosuria HP:0003149 An abnormally high level of uric acid in the urine. https://orcid.org/0000-0002-0736-9199 High urine uric acid level https://orcid.org/0000-0001-5208-3432 The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. HP:0003490 SNOMEDCT_US:28987007 UMLS:C0268594 Glutarate aciduria Glutaricaciduria Increased glutarate level in urine human_phenotype HP:0003150 Glutaric aciduria HP:0003150 The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. HPO_CONTRIBUTOR:gcarletti Glutarate aciduria https://orcid.org/0000-0001-9969-8610 Increased glutarate level in urine CHEBI:24329 https://orcid.org/0000-0001-5208-3432 true HP:0003151 HP:0031415 human_phenotype HP:0003152 obsolete Increased serum 1,25-dihydroxyvitamin D3 true HP:0003152 An elevated urinary concentration of cystathionine. SNOMEDCT_US:13003007 UMLS:C0220993 High urine cystathionine levels human_phenotype HP:0003153 Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. Cystathioninuria HP:0003153 An elevated urinary concentration of cystathionine. https://orcid.org/0000-0002-0736-9199 High urine cystathionine levels https://orcid.org/0000-0001-5208-3432 An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. UMLS:C4021740 High blood corticotropin levels Increased circulating ACTH level Increased plasma ACTH human_phenotype HP:0003154 Increased circulating ACTH level HP:0003154 An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. https://orcid.org/0000-0002-0736-9199 High blood corticotropin levels https://orcid.org/0000-0001-5208-3432 Increased circulating ACTH level Abnormally increased serum levels of alkaline phosphatase activity. HP:0002911 HP:0003636 HP:0008296 UMLS:C0750857 Elevated ALP Elevated alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Hyperphosphatasemia Hyperphosphatasia Increased alkaline phosphatase Increased serum alkaline phosphatase human_phenotype HP:0003155 Elevated circulating alkaline phosphatase concentration HP:0003155 Abnormally increased serum levels of alkaline phosphatase activity. PMID:29083622 https://orcid.org/0000-0002-0736-9199 Elevated ALP Elevated alkaline phosphatase Greatly elevated alkaline phosphatase High serum alkaline phosphatase Hyperphosphatasia https://orcid.org/0000-0002-0736-9199 Increased alkaline phosphatase Increased serum alkaline phosphatase true HP:0003156 true HP:0003157 An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. SNOMEDCT_US:76023003 UMLS:C0232831 Reduced urinary osmolality human_phenotype HP:0003158 Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. Hyposthenuria HP:0003158 An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. https://orcid.org/0000-0002-0736-9199 Increased excretion of oxalates in the urine. SNOMEDCT_US:367621000119107 UMLS:C0020500 High urine oxalate levels Increased level of oxalate in urine human_phenotype HP:0003159 Hyperoxaluria HP:0003159 Increased excretion of oxalates in the urine. https://orcid.org/0000-0002-0736-9199 High urine oxalate levels https://orcid.org/0000-0001-5208-3432 Increased level of oxalate in urine PMID:11135054 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-9969-8610 Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. UMLS:C2749688 Abnormal isoelectric focusing of transferrin Abnormal transferrin isoelectric focusing human_phenotype HP:0003160 Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. Abnormal isoelectric focusing of serum transferrin HP:0003160 Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. PMID:22516080 https://orcid.org/0000-0002-0736-9199 Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine. UMLS:C1848678 Hydroxyphenylpyruvic aciduria human_phenotype HP:0003161 4-Hydroxyphenylpyruvic aciduria HP:0003161 Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:6974005 UMLS:C0271708 Low blood sugar when fasting human_phenotype HP:0003162 Fasting hypoglycemia HP:0003162 Low blood sugar when fasting https://orcid.org/0000-0001-5208-3432 An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. UMLS:C1848702 Elevated urinary delta-aminolevulinic acid human_phenotype HP:0003163 Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. Elevated urinary delta-aminolevulinic acid HP:0003163 An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. https://orcid.org/0000-0002-0736-9199 Elevated urinary delta-aminolevulinic acid Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response. UMLS:C4025644 Hypothalamic GNRH deficiency Hypothalamic gonadotropin-releasing hormone deficiency human_phenotype HP:0003164 Gonadotropin-releasing hormone deficiency HP:0003164 Gonadotropin-releasing hormone (GnRH) deficiency (IGD) is characterized by inappropriately low serum concentrations of the gonadotropins LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in the presence of low circulating concentrations of sex steroids (primarily testosterone or estradiol). GnRH is not typically assayed directly because it is released in pulses from the hypothalamus, and its concentration can fluctuate rapidly and in a complex pattern that makes single blood measurements less informative than the pituitary's response. PMID:20301509 An abnormal increased concentration of parathyroid hormone. UMLS:C0857973 Elevated circulating PTH level Elevated serum parathyroid hormone Elevated serum parathyroid hormone level Elevated serum pth Increased serum parathyroid hormone human_phenotype HP:0003165 Elevated circulating parathyroid hormone level HP:0003165 An abnormal increased concentration of parathyroid hormone. https://orcid.org/0000-0002-0736-9199 Increased concentration of taurine in the urine. UMLS:C3806447 Increased urinary taurine human_phenotype HP:0003166 Increased urinary taurine HP:0003166 Increased concentration of taurine in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary taurine An increased concentration of carnosine in the urine. SNOMEDCT_US:410051001 UMLS:C3495558 High urine carnosine levels human_phenotype HP:0003167 Carnosine is the N-(beta-alanyl) derivative of L-histidine. Carnosinuria HP:0003167 An increased concentration of carnosine in the urine. https://orcid.org/0000-0002-0736-9199 High urine carnosine levels https://orcid.org/0000-0001-5208-3432 An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His). UMLS:C4025643 human_phenotype HP:0003168 Dibasicaminoaciduria HP:0003168 true HP:0003169 An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. UMLS:C4021739 Abnormality of the acetabulum Abnormality of the hipbone socket Acetabular abnormality human_phenotype HP:0003170 Abnormal acetabulum morphology HP:0003170 An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. https://orcid.org/0000-0002-0736-9199 Abnormality of the hipbone socket https://orcid.org/0000-0001-5208-3432 true HP:0003171 An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. UMLS:C4021738 Abnormality of the pubic bone Abnormality of the pubic bones Abnormality of the pubis human_phenotype HP:0003172 Abnormal pubic bone morphology HP:0003172 An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the pubic bone Abnormality of the pubic bones Abnormality of the pubis Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. UMLS:C1865030 Hypoplastic pubic bones Hypoplastic pubis human_phenotype HP:0003173 Hypoplastic pubic bone HP:0003173 Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. https://orcid.org/0000-0002-0736-9199 Hypoplastic pubic bones An anomaly of the ischium, which forms the lower and back part of the hip bone. SNOMEDCT_US:93008005 UMLS:C0685661 Abnormality of the ischial bones Abnormality of the ischium Anomaly of the ischium human_phenotype HP:0003174 The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). Abnormal ischium morphology HP:0003174 An anomaly of the ischium, which forms the lower and back part of the hip bone. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the ischium, which forms the lower and back part of the hip bone. UMLS:C1859447 Hypoplastic ischial bones Hypoplastic ischii Hypoplastic ischium human_phenotype HP:0003175 Hypoplastic ischia HP:0003175 Underdevelopment of the ischium, which forms the lower and back part of the hip bone. https://orcid.org/0000-0002-0736-9199 true HP:0003176 A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. UMLS:C1838186 Square iliac bones Squaring of iliac bones human_phenotype HP:0003177 Squared iliac bones HP:0003177 A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. https://orcid.org/0000-0002-0736-9199 true HP:0003178 Intrapelvic bulging of the medial acetabular wall. SNOMEDCT_US:59606006 UMLS:C0409495 Abnormally indented hip sockets Acetabular protrusion Protrusio acetabulae human_phenotype HP:0003179 Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. Protrusio acetabuli HP:0003179 Intrapelvic bulging of the medial acetabular wall. https://orcid.org/0000-0002-0736-9199 Abnormally indented hip sockets Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. HP:0003171 HP:0008832 HP:0008834 UMLS:C1837485 Acetabular angle flat Flat acetabular roofs Flattened acetabular roof Horizontal acetabulae Horizontal acetabular roof Horizontal acetabular roofs human_phenotype HP:0003180 Flat acetabular roof HP:0003180 Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. https://orcid.org/0000-0002-0736-9199 true HP:0003181 UMLS:C1854910 UMLS:C1860796 Shallow acetabula Shallow acetabulae Shallow acetabular fossa Shallow acetabulum human_phenotype HP:0003182 Shallow acetabular fossae HP:0003182 Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. UMLS:C1857190 Wide symphysis of pubis human_phenotype HP:0003183 Wide pubic symphysis HP:0003183 Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. https://orcid.org/0000-0002-0736-9199 Reduced ability to move the femur outward to the side. UMLS:C1836589 Limited hip abduction human_phenotype HP:0003184 Decreased hip abduction HP:0003184 Reduced ability to move the femur outward to the side. https://orcid.org/0000-0002-0736-9199 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. HP:0008815 UMLS:C1866689 Short sacroiliac notch Shortened sacroiliac notches Small sacroiliac notch human_phenotype HP:0003185 Short greater sciatic notch HP:0003185 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. https://orcid.org/0000-0002-0736-9199 The presence of nipples that instead of pointing outward are retracted inwards. SNOMEDCT_US:82231009 UMLS:C0269269 Invaginated nipples Inverted nipples human_phenotype HP:0003186 Inverted nipples HP:0003186 The presence of nipples that instead of pointing outward are retracted inwards. https://orcid.org/0009-0006-4530-3154 Invaginated nipples https://orcid.org/0000-0002-0736-9199 Inverted nipples Underdevelopment of the breast. HP:0000784 SNOMEDCT_US:8915006 UMLS:C0266013 Underdeveloped breasts human_phenotype HP:0003187 Breast hypoplasia HP:0003187 Underdevelopment of the breast. https://orcid.org/0000-0002-0736-9199 Underdeveloped breasts true HP:0003188 Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. HP:0005283 HP:0200142 UMLS:C1839798 Elongated nose Increased height of nose Increased length of nose Increased nasal height Increased nasal length Long nose Nasal elongation human_phenotype HP:0003189 Long nose HP:0003189 Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. PMID:19152422 Elongated nose https://orcid.org/0000-0001-5889-4463 Increased height of nose https://orcid.org/0000-0001-5889-4463 Increased length of nose https://orcid.org/0000-0001-5889-4463 Increased nasal height https://orcid.org/0000-0001-5889-4463 Increased nasal length https://orcid.org/0000-0001-5889-4463 Long nose Nasal elongation https://orcid.org/0000-0001-5889-4463 true HP:0003190 The presence of a notch in the margin of the ala nasi. HP:0004412 UMLS:C1844537 Ala nasi, cleft Alar clefts Cleft nasal alae Cleft nostril Notched nasal alae human_phenotype Nostril coloboma HP:0003191 The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. Cleft ala nasi HP:0003191 The presence of a notch in the margin of the ala nasi. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Cleft nasal alae https://orcid.org/0000-0001-5889-4463 Cleft nostril https://orcid.org/0000-0001-5889-4463 true HP:0003192 It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. SNOMEDCT_US:61582004 UMLS:C0847614 UMLS:C2607914 Hay fever Hayfever human_phenotype Nasal allergies HP:0003193 Allergic rhinitis HP:0003193 It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. PMID:11449200 Hay fever Hayfever Nasal allergies https://orcid.org/0000-0001-5889-4463 Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. UMLS:C1854689 Decreased length of bridge of nose Decreased length of nasal bridge Short bridge of nose Short nasal bridge human_phenotype HP:0003194 Short nasal bridge HP:0003194 Decreased length of bridge of nose https://orcid.org/0000-0001-5889-4463 Decreased length of nasal bridge https://orcid.org/0000-0001-5889-4463 Short bridge of nose https://orcid.org/0000-0001-5889-4463 Short nasal bridge true HP:0003195 Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. HP:0000440 HP:0000449 HP:0000450 HP:0003192 HP:0003195 HP:0005270 HP:0200092 SNOMEDCT_US:249310005 UMLS:C0426414 UMLS:C1854114 Decreased length of nose Hypoplastic nose Nasal hypoplasia Short nose Shortened nose human_phenotype Small nose HP:0003196 Note: a small nose has both decreased height and a decreased width. These should be coded separately. Short nose HP:0003196 Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Decreased length of nose https://orcid.org/0000-0001-5889-4463 Short nose Shortened nose https://orcid.org/0000-0002-5316-1399 Small nose true HP:0003197 A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. HP:0003569 HP:0003705 HP:0003742 HP:0003802 SNOMEDCT_US:129565002 UMLS:C0026848 Muscle tissue disease Myopathic changes human_phenotype HP:0003198 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. Myopathy HP:0003198 A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. https://orcid.org/0000-0002-0736-9199 Muscle tissue disease https://orcid.org/0000-0001-5208-3432 HP:0003732 UMLS:C1837108 Decreased muscle mass human_phenotype HP:0003199 Decreased muscle mass HP:0003199 Decreased muscle mass An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. HP:0009076 UMLS:C3275417 Mitochondrial proliferation in muscle tissue Ragged red muscle fibers Ragged red muscle fibres Ragged-red fibers Ragged-red fibres Ragged-red muscle fibres human_phenotype HP:0003200 This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH). Ragged-red muscle fibers HP:0003200 An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. PMID:12075011 PMID:16537564 https://orcid.org/0000-0002-0736-9199 Ragged red muscle fibres Ragged-red fibres Ragged-red muscle fibres Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. SNOMEDCT_US:240131006 SNOMEDCT_US:89010004 UMLS:C0035410 Breakdown of skeletal muscle human_phenotype HP:0003201 Rhabdomyolysis HP:0003201 Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. https://orcid.org/0000-0002-0736-9199 Breakdown of skeletal muscle https://orcid.org/0000-0002-6548-5200 The presence of skeletal muscular atrophy (which is also known as amyotrophy). HP:0001299 HP:0003545 HP:0003671 HP:0003702 HP:0003746 HP:0006995 HP:0007171 HP:0007356 HP:0009010 HP:0009048 HP:0100868 SNOMEDCT_US:74035001 UMLS:C0234958 UMLS:C0270948 UMLS:C0541794 UMLS:C1843479 Amyotrophy Amyotrophy involving the extremities Muscle atrophy Muscle atrophy, neurogenic Muscle degeneration Muscle hypotrophy Muscle wasting Muscular atrophy Neurogenic muscle atrophy Neurogenic muscle atrophy, especially in the lower limbs Neurogenic muscular atrophy human_phenotype HP:0003202 Skeletal muscle atrophy HP:0003202 The presence of skeletal muscular atrophy (which is also known as amyotrophy). https://orcid.org/0000-0002-0736-9199 Muscle degeneration https://orcid.org/0000-0001-5208-3432 Muscle wasting Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. HP:0005512 HP:0025632 UMLS:C4280805 Decreased oxidative burst Impaired oxidative burst Negative NBT reduction test Negative nitroblue tetrazolium reduction test Reduced reactive oxygen species production in neutrophils human_phenotype HP:0003203 The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. An abnormal test result implies a reduction in the ability of neutrophils to kill bacteria. Polymorphonuclear neutrophils comprise more than 60% of the circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2). Decreased neutrophil oxidative burst HP:0003203 Abnormal decrease of neutrophil oxidative burst, commonly measured through oxidation of dihydrorhodamine (DHR) using flow cytometry or through nitroblue tetrazolium test (NBT) using optical microscopy, upon stimulation with phorbol-12-myristate-13-acetate (PMA), E. coli or other ligands. PMID:27558335 https://orcid.org/0000-0002-0736-9199 The intracellular accumulation of autofluorescent storage material. UMLS:C4025642 human_phenotype HP:0003204 Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. Intracellular accumulation of autofluorescent lipopigment storage material HP:0003204 The intracellular accumulation of autofluorescent storage material. PMID:16455164 https://orcid.org/0000-0002-0736-9199 An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. UMLS:C1836852 Curvilinear profiles ultrastructurally Curvilinear profiles ultrastructurally in cells Intracellular curvilinear profiles on ultrastructural analysis human_phenotype HP:0003205 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205 An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. https://orcid.org/0000-0002-0736-9199 UMLS:C1844394 human_phenotype HP:0003206 Decreased activity of NADPH oxidase HP:0003206 Pathological deposition of calcium salts in one or more arteries. 2008-03-26T04:05:00Z HP:0012455 UMLS:C1168153 human_phenotype HP:0003207 Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861). Arterial calcification HP:0003207 Pathological deposition of calcium salts in one or more arteries. PMID:18519861 https://orcid.org/0000-0002-0736-9199 An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. UMLS:C1836851 Fingerprint profiles ultrastructurally Fingerprint profiles ultrastructurally in cells human_phenotype HP:0003208 Fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003208 An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. https://orcid.org/0000-0002-0736-9199 A decreased rate of pyruvate carboxylase activity. UMLS:C4025641 human_phenotype HP:0003209 Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. Decreased pyruvate carboxylase activity HP:0003209 A decreased rate of pyruvate carboxylase activity. https://orcid.org/0000-0002-0736-9199 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. UMLS:C1848579 Decreased methylmalonyl CoA mutase activity human_phenotype HP:0003210 The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. Decreased methylmalonyl-CoA mutase activity HP:0003210 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. https://orcid.org/0000-0002-0736-9199 true HP:0003211 An abnormally increased overall level of immunoglobulin E in blood. HP:0005382 HP:0005418 HP:0005433 UMLS:C0236175 Elevated immunoglobulin E Elevated serum IgE High immunoglobulin E Increased circulating IgE level human_phenotype HP:0003212 Increased circulating IgE concentration HP:0003212 An abnormally increased overall level of immunoglobulin E in blood. https://orcid.org/0000-0002-0736-9199 UMLS:C4025640 human_phenotype HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003213 UMLS:C4025639 human_phenotype HP:0003214 Prolonged G2 phase of cell cycle HP:0003214 An increased concentration of dicarboxylic acid in the urine. HP:0033455 UMLS:C1856432 Elevated urinary dicarboxylic acid level human_phenotype HP:0003215 A dicarboxylic acid is an oxoacid containing two carboxy groups. Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. Dicarboxylic aciduria HP:0003215 An increased concentration of dicarboxylic acid in the urine. HPO_CONTRIBUTOR:gcarletti A diffuse form of amyloidosis. UMLS:C1862968 Generalised amyloid deposition human_phenotype HP:0003216 According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. Generalized amyloid deposition HP:0003216 A diffuse form of amyloidosis. https://orcid.org/0000-0002-0736-9199 Generalised amyloid deposition The concentration of glutamine in the blood circulation is above the upper limit of normal. UMLS:C1839533 Elevated glutamine concentration Elevated glutamine level Elevated glutamine level in blood High plasma glutamine Hyperglutaminemia Increased glutamine concentration Increased glutamine level Increased glutamine level in blood human_phenotype HP:0003217 Normal glutamine blood levels are around 550-600 micromole per liter. Hyperglutaminemia HP:0003217 High plasma glutamine An increased concentration of orotic acid in the urine. HP:0000810 HP:0010928 SNOMEDCT_US:124277009 SNOMEDCT_US:47641009 UMLS:C0268128 High urine orotic acid levels Increased urinary orotic acid concentration human_phenotype Orotic aciduria HP:0003218 Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. Oroticaciduria HP:0003218 An increased concentration of orotic acid in the urine. HPO_CONTRIBUTOR:gcarlotti High urine orotic acid levels https://orcid.org/0000-0001-5208-3432 Orotic aciduria https://orcid.org/0000-0002-5316-1399 The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. UMLS:C1865353 human_phenotype HP:0003219 Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. Ethylmalonic aciduria HP:0003219 The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. HP:0002915 HP:0008307 UMLS:C0376628 UMLS:C1859424 human_phenotype HP:0003220 Abnormality of chromosome stability HP:0003220 A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration. https://orcid.org/0000-0002-0736-9199 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. UMLS:C4021737 Chromosomal breakage induced by diepoxybutane Chromosomal breakage induced by mitomycin C human_phenotype HP:0003221 Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. Chromosomal breakage induced by crosslinking agents HP:0003221 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. https://orcid.org/0009-0006-4530-3154 true HP:0003222 The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. HP:0008287 UMLS:C4021736 Decreased methylcobalamin Methylcobalamin deficiency human_phenotype HP:0003223 Decreased circulating methylcobalamin concentration HP:0003223 The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. https://orcid.org/0000-0002-0736-9199 UMLS:C1857707 human_phenotype HP:0003224 Increased cellular sensitivity to UV light HP:0003224 Decreased activity of coagulation factor V. SNOMEDCT_US:4320005 SNOMEDCT_US:88776002 UMLS:C0015499 Reduced factor V activity human_phenotype Factor V deficiency HP:0003225 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. Reduced coagulation factor V activity HP:0003225 Decreased activity of coagulation factor V. https://orcid.org/0000-0002-0736-9199 An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. UMLS:C1850447 Rectilinear profiles ultrastructurally human_phenotype HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003226 An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. https://orcid.org/0000-0002-0736-9199 true HP:0003227 The concentration of sodium in the blood circulation is above the upper limit of normal. SNOMEDCT_US:286926003 SNOMEDCT_US:39355002 UMLS:C0020488 Elevated sodium(1+) concentration Elevated sodium(1+) level Elevated sodium(1+) level in blood High blood sodium levels Hypernatremia Increased sodium(1+) concentration Increased sodium(1+) level Increased sodium(1+) level in blood human_phenotype HP:0003228 Hypernatremia HP:0003228 High blood sodium levels https://orcid.org/0000-0001-5208-3432 true HP:0003229 true HP:0003230 An increased concentration of tyrosine in the blood. SNOMEDCT_US:56595005 UMLS:C1879362 Increased tyrosine in blood Tyrosinemia human_phenotype HP:0003231 Defect in fumarylacetoacetase. Hypertyrosinemia HP:0003231 An increased concentration of tyrosine in the blood. https://orcid.org/0000-0002-0736-9199 Increased tyrosine in blood https://orcid.org/0000-0001-5208-3432 UMLS:C1856697 Decreased mitochondrial malic enzyme human_phenotype HP:0003232 Mitochondrial malic enzyme reduced HP:0003232 Decreased mitochondrial malic enzyme https://orcid.org/0000-0002-5316-1399 The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. SNOMEDCT_US:190785000 UMLS:C0151691 UMLS:C0473527 Decreased HDL cholesterol Decreased circulating HDL-C concentration Decreased circulating high-density lipoprotein cholesterol Decreased circulating high-density lipoprotein levels Decreased high-density lipoprotein cholesterol concentration Decreased high-density lipoprotein cholesterol level Decreased high-density lipoprotein cholesterol level in blood Hypoalphalipoproteinemia Low HDL-cholesterol Reduced high-density lipoprotein cholesterol concentration Reduced high-density lipoprotein cholesterol level Reduced high-density lipoprotein cholesterol level in blood human_phenotype HP:0003233 Decreased circulating HDL-C concentration HP:0003233 Decreased HDL cholesterol Decreased circulating high-density lipoprotein cholesterol Low HDL-cholesterol Concentration of carnitine in the blood circulation below the lower limit of normal. SNOMEDCT_US:421784001 UMLS:C1142132 Decreased plasma carnitine human_phenotype Carnitine deficiency HP:0003234 Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. Decreased circulating carnitine concentration HP:0003234 Concentration of carnitine in the blood circulation below the lower limit of normal. HPO_CONTRIBUTOR:gcarletti Decreased plasma carnitine Carnitine deficiency An increased concentration of methionine in the blood. SNOMEDCT_US:124283007 SNOMEDCT_US:43123004 SNOMEDCT_US:57835009 UMLS:C0268621 Increased methionine in blood Methioninemia human_phenotype HP:0003235 Elevated blood methionine levels in the range of 500-2000 micromolar. Hypermethioninemia HP:0003235 An increased concentration of methionine in the blood. HPO_CONTRIBUTOR:gcarletti Increased methionine in blood https://orcid.org/0000-0001-5208-3432 The activity of creatine kinase in the blood circulation is above the upper limit of normal. HP:0002147 HP:0002906 HP:0003078 HP:0003525 HP:0003531 HP:0008164 UMLS:C0151576 UMLS:C0241005 Elevated blood creatine phosphokinase Elevated circulating creatine kinase activity Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated creatine kinase concentration Elevated creatine kinase level Elevated creatine kinase level in blood Elevated serum CPK Elevated serum creatine kinase Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine kinase concentration Increased creatine kinase level Increased creatine kinase level in blood Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase human_phenotype HP:0003236 Elevated serum creatine kinase (CK) activity is usually an indicator of muscle damage. Diseases with very high CK values include subtypes of muscular dystrophies, idiopathic inflammatory myopathies and metabolic myopathies. However, a normal or only slightly elevated CK value does not exclude the presence of a myopathy. The normal range in the blood circulation is 34-171 U/l in males and 34-145 U/l in females, but may vary according to the test used. Elevated circulating creatine kinase activity HP:0003236 Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase An abnormally increased level of immunoglobulin G in blood. UMLS:C1858977 Increased IgG level Increased circulating IgG level Increased levels of IgG Increased total IgG in blood human_phenotype HP:0003237 Increased circulating IgG concentration HP:0003237 An abnormally increased level of immunoglobulin G in blood. https://orcid.org/0000-0002-0736-9199 The concentration of pepsinogen I in the blood circulation is above the upper limit of normal. UMLS:C4025638 human_phenotype HP:0003238 Hyperpepsinogenemia I HP:0003238 An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. HP:0410158 SNOMEDCT_US:55236002 UMLS:C0268412 High urine phosphoethanolamine levels Increased level of O-phosphoethanolamine in urine Increased urine O-phosphoethanolamine level human_phenotype HP:0003239 Phosphoethanolaminuria HP:0003239 An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. PMID:23093139 https://orcid.org/0000-0002-0736-9199 High urine phosphoethanolamine levels https://orcid.org/0000-0001-5208-3432 Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. UMLS:C4025637 Increased PRPS1 activity Increased phosphoribosyl pyrophosphate synthetase activity human_phenotype HP:0003240 Increased phosphoribosylpyrophosphate synthetase level HP:0003240 Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. PMID:4200723 Underdevelopment of part or all of the external reproductive organs. HP:0000788 HP:0003245 UMLS:C1855333 Hypogenitalism Small genitalia Underdevelopment of external reproductive organs human_phenotype HP:0003241 Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. External genital hypoplasia HP:0003241 Underdevelopment of part or all of the external reproductive organs. https://orcid.org/0000-0002-0736-9199 Underdevelopment of external reproductive organs https://orcid.org/0000-0002-6548-5200 true HP:0003242 true HP:0003243 Location of the urethral opening on the inferior aspect of the penis. SNOMEDCT_US:204888000 UMLS:C1691215 human_phenotype HP:0003244 Penile hypospadias HP:0003244 Location of the urethral opening on the inferior aspect of the penis. https://orcid.org/0000-0002-0736-9199 true HP:0003245 Increased size of the ridge of tissue that extends along the midline of the scrotum. UMLS:C1852407 Prominent perineal raphe human_phenotype HP:0003246 Prominent scrotal raphe HP:0003246 Increased size of the ridge of tissue that extends along the midline of the scrotum. https://orcid.org/0000-0002-0736-9199 UMLS:C1851722 Overgrowth of external genitalia human_phenotype HP:0003247 Overgrowth of external genitalia HP:0003247 Overgrowth of external genitalia UMLS:C1860268 human_phenotype HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003248 UMLS:C0151281 Genital ulcers human_phenotype HP:0003249 Genital ulcers HP:0003249 Genital ulcers Aplasia of the vagina. HP:0008709 SNOMEDCT_US:248871003 SNOMEDCT_US:87380008 UMLS:C0220763 UMLS:C1321884 UMLS:C1841990 Absent vagina Congenital absence of the vagina human_phenotype HP:0003250 Aplasia of the vagina HP:0003250 Aplasia of the vagina. https://orcid.org/0000-0002-0736-9199 Absent vagina SNOMEDCT_US:2904007 UMLS:C0021364 Male infertility human_phenotype HP:0003251 Male infertility HP:0003251 Male infertility UMLS:C1848653 human_phenotype HP:0003252 Anteriorly displaced genitalia HP:0003252 true HP:0003253 An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. UMLS:C4021848 human_phenotype HP:0003254 Abnormality of DNA repair HP:0003254 An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage. https://orcid.org/0000-0002-0736-9199 true HP:0003255 An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. HP:0001925 SNOMEDCT_US:362970003 SNOMEDCT_US:64779008 UMLS:C0005779 Coagulopathy human_phenotype HP:0003256 Abnormality of the coagulation cascade HP:0003256 An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. https://orcid.org/0000-0002-0736-9199 true HP:0003257 UMLS:C3279658 human_phenotype HP:0003258 Glyoxalase deficiency HP:0003258 An increased amount of creatinine in the blood. HP:0003227 SNOMEDCT_US:166717003 UMLS:C0700225 Elevated creatinine Elevated serum creatinine High blood creatinine level Increased creatinine Increased serum creatinine human_phenotype HP:0003259 Elevated circulating creatinine concentration HP:0003259 An increased amount of creatinine in the blood. HPO_CONTRIBUTOR:gcarletti Elevated creatinine High blood creatinine level Increased creatinine Increased serum creatinine The concentration of hydroxyproline in the blood circulation is above the upper limit of normal. SNOMEDCT_US:25739007 UMLS:C0268531 Elevated hydroxyproline concentration Elevated hydroxyproline level Elevated hydroxyproline level in blood High blood hydroxyproline levels Hydroxyprolinemia Increased hydroxyproline concentration Increased hydroxyproline level Increased hydroxyproline level in blood human_phenotype HP:0003260 Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. Hydroxyprolinemia HP:0003260 High blood hydroxyproline levels https://orcid.org/0000-0001-5208-3432 An abnormally increased level of immunoglobulin A in blood. HP:0004436 HP:0005351 HP:0005417 UMLS:C0239984 Elevated IgA Elevated serum IgA IgA hypergammaglobulinemia Increased circulating IgA level Increased levels of IgA Increased serum IgA human_phenotype HP:0003261 Increased circulating IgA concentration HP:0003261 An abnormally increased level of immunoglobulin A in blood. https://orcid.org/0000-0002-0736-9199 The presence in serum of antibodies against smooth muscle. SNOMEDCT_US:310290006 UMLS:C0241185 Anti-smooth muscle antibody positivity Smooth muscle antibody positive Smooth muscle antibody positivity human_phenotype HP:0003262 Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. Anti-smooth muscle antibody positivity HP:0003262 The presence in serum of antibodies against smooth muscle. https://orcid.org/0000-0002-0736-9199 true HP:0003263 SNOMEDCT_US:70199000 UMLS:C0020725 human_phenotype HP:0003264 N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. Deficiency of N-acetylglucosamine-1-phosphotransferase HP:0003264 A type of hyperbilirubinemia with neonatal onset. HP:0008152 SNOMEDCT_US:281610001 UMLS:C0857007 High blood bilirubin levels in neonate Hyperbilirubinemia, neonatal human_phenotype HP:0003265 Neonatal hyperbilirubinemia HP:0003265 A type of hyperbilirubinemia with neonatal onset. https://orcid.org/0000-0002-0736-9199 High blood bilirubin levels in neonate https://orcid.org/0000-0001-5208-3432 true HP:0003266 An abnormal decrease in orotidine 5'-phosphate decarboxylase level. UMLS:C4020845 UMLS:C4025636 human_phenotype Orotidine-5-prime-phosphate decarboxylase defect HP:0003267 The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. Reduced orotidine 5-prime phosphate decarboxylase level HP:0003267 An abnormal decrease in orotidine 5'-phosphate decarboxylase level. HPO_CONTRIBUTOR:gcarletti A increased concentration of arginine in the urine. UMLS:C4025635 High urine arginine levels human_phenotype HP:0003268 Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. Argininuria HP:0003268 A increased concentration of arginine in the urine. PMID:18901181 PMID:20240447 https://orcid.org/0000-0002-0736-9199 High urine arginine levels https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:64855000 UMLS:C0205711 human_phenotype HP:0003269 Sudanophilic leukodystrophy HP:0003269 Distention of the abdomen. HP:0001542 HP:0003364 SNOMEDCT_US:41931001 SNOMEDCT_US:60728008 UMLS:C0000731 Abdominal bloating Abdominal distension Abdominal swelling Belly bloating Bloating Distended abdomen human_phenotype HP:0003270 Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. Abdominal distention HP:0003270 Distention of the abdomen. https://orcid.org/0000-0002-0736-9199 Abdominal bloating Abdominal swelling Belly bloating Bloating Abnormal increased size of the viscera of the abdomen. SNOMEDCT_US:28543008 UMLS:C0042782 human_phenotype HP:0003271 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. Visceromegaly HP:0003271 Abnormal increased size of the viscera of the abdomen. https://orcid.org/0000-0002-0736-9199 An abnormality of the hip bone. UMLS:C4021735 Abnormality of the hip bone Abnormality of the hips human_phenotype HP:0003272 The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. Abnormal hip bone morphology HP:0003272 An abnormality of the hip bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the hip bone Abnormality of the hips Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. SNOMEDCT_US:202283002 UMLS:C0409354 Flexion contracture of hips Flexion contractures of hips Hip contractures Hip flexion contractures human_phenotype HP:0003273 Hip contracture HP:0003273 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. PMID:16214063 PMID:24975760 PMID:31282072 Underdeveloped acetabulae. UMLS:C1846442 Acetabular hypoplasia Hypoplastic acetabula human_phenotype HP:0003274 Hypoplastic acetabulae HP:0003274 Underdeveloped acetabulae. https://orcid.org/0000-0002-0736-9199 Reduced side to side width of the pelvis. Narrow pelvis UMLS:C1848103 Narrow pelvis bone human_phenotype HP:0003275 Narrow pelvis bone HP:0003275 Reduced side to side width of the pelvis. https://orcid.org/0000-0002-0736-9199 Narrow pelvis https://orcid.org/0000-0002-5316-1399 Narrow pelvis bone A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. Pelvic exostoses UMLS:C1844689 human_phenotype HP:0003276 Pelvic bone exostoses HP:0003276 A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. https://orcid.org/0000-0002-0736-9199 Pelvic exostoses https://orcid.org/0000-0002-5316-1399 UMLS:C1854785 Constricted iliac wings human_phenotype HP:0003277 Constricted iliac wing HP:0003277 Constricted iliac wings An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. Square pelvis UMLS:C1849953 Square pelvis bone human_phenotype Squared off pelvis HP:0003278 Square pelvis bone HP:0003278 An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. https://orcid.org/0000-0002-0736-9199 Square pelvis https://orcid.org/0000-0002-5316-1399 Square pelvis bone Widening of the femoral head and neck. SNOMEDCT_US:296041000119103 UMLS:C1860826 human_phenotype HP:0003279 Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. Coxa magna HP:0003279 Widening of the femoral head and neck. https://orcid.org/0000-0002-0736-9199 true HP:0003280 Increased concentration of ferritin in the blood circulation. UMLS:C0241013 UMLS:C0743912 UMLS:C3854388 Elevated serum ferritin High ferritin level Hyperferritinaemia Hyperferritinemia Increased ferritin Increased plasma ferritin Increased serum ferritin level human_phenotype HP:0003281 Ferritin is a ubiquitous intracellular protein that stores iron. Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. Increased circulating ferritin concentration HP:0003281 Increased concentration of ferritin in the blood circulation. https://orcid.org/0000-0002-0736-9199 Elevated serum ferritin High ferritin level Increased ferritin Increased serum ferritin level Concentration or activity of alkaline phosphatase outside the upper or lower limtis of normal in the blood circulation. UMLS:C1860130 Decreased serum alkaline phosphatase Low ALP Low alkaline phosphatase human_phenotype HP:0003282 Decreased circulating alkaline phosphatase activity HP:0003282 Concentration or activity of alkaline phosphatase outside the upper or lower limtis of normal in the blood circulation. https://orcid.org/0000-0002-0736-9199 Decreased serum alkaline phosphatase Low ALP true HP:0003283 true HP:0003284 true HP:0003285 An increased concentration of cystathionine in the blood. SNOMEDCT_US:6669004 UMLS:C0268618 High blood cystathionine levels human_phenotype HP:0003286 Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. Cystathioninemia HP:0003286 An increased concentration of cystathionine in the blood. HPO_CONTRIBUTOR:gcarletti PMID:16902722 High blood cystathionine levels https://orcid.org/0000-0001-5208-3432 A functional anomaly of mitochondria. UMLS:C4021734 Mitochondrial dysfunction human_phenotype HP:0003287 Abnormality of mitochondrial metabolism HP:0003287 A functional anomaly of mitochondria. https://orcid.org/0000-0001-5208-3432 UMLS:C4025634 Mitochondrial PCC defect human_phenotype HP:0003288 Mitochondrial propionyl-CoA carboxylase defect HP:0003288 true HP:0003289 true HP:0003290 true HP:0003291 A decreased concentration of leptin in the blood. UMLS:C1837802 Decreased serum leptin Reduced circulating leptin level human_phenotype HP:0003292 Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. Decreased serum leptin HP:0003292 A decreased concentration of leptin in the blood. PMID:16932309 https://orcid.org/0000-0002-0736-9199 Decreased serum leptin true HP:0003293 true HP:0003294 HP:0030339 human_phenotype HP:0003295 obsolete Impaired FSH and LH secretion true HP:0003295 An increased concentration of threonine in the urine. UMLS:C2673931 High urine threonine levels human_phenotype HP:0003296 Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. Hyperthreoninuria HP:0003296 An increased concentration of threonine in the urine. PMID:18901181 PMID:20240447 https://orcid.org/0000-0002-0736-9199 High urine threonine levels https://orcid.org/0000-0001-5208-3432 An increased concentration of lysine in the urine. HP:0002158 UMLS:C4021733 High urine lysine levels Lysinuria human_phenotype HP:0003297 Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. Hyperlysinuria HP:0003297 An increased concentration of lysine in the urine. PMID:18901181 PMID:20240447 https://orcid.org/0000-0002-0736-9199 High urine lysine levels https://orcid.org/0000-0001-5208-3432 The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. SNOMEDCT_US:76916001 UMLS:C0080174 Hidden spina bifida human_phenotype HP:0003298 May be asymptomatic. Spina bifida occulta HP:0003298 The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. https://orcid.org/0000-0002-0736-9199 true HP:0003299 When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. HP:0004559 UMLS:C1855665 UMLS:C4020844 Oval vertebral bodies Ovoid vertebrae Ovoid-shaped vertebral bodies human_phenotype Bullet vertebral body HP:0003300 Ovoid vertebral bodies HP:0003300 When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. https://orcid.org/0000-0002-0736-9199 An irregular surface of the vertebral end plates, which are normally relatively smooth. HP:0003420 HP:0004583 HP:0004628 UMLS:C1842153 Irregular end plates Irregular endplates end-plate irregularities endplate irregularities endplate irregularity irregular vertebral plates vertebral endplate irregularity human_phenotype HP:0003301 Irregular vertebral endplates HP:0003301 An irregular surface of the vertebral end plates, which are normally relatively smooth. https://orcid.org/0000-0002-0736-9199 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. SNOMEDCT_US:274152003 UMLS:C0038016 Displacement of one backbone compared to another Slipped backbone Spondylolithesis human_phenotype HP:0003302 Spondylolisthesis HP:0003302 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. PMID:20411054 https://orcid.org/0000-0002-0736-9199 Displacement of one backbone compared to another https://orcid.org/0000-0002-6548-5200 Slipped backbone https://orcid.org/0000-0002-6548-5200 true HP:0003303 Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. SNOMEDCT_US:240221008 UMLS:C0038018 human_phenotype HP:0003304 The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. Spondylolysis HP:0003304 Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. PMID:20440613 https://orcid.org/0000-0002-0736-9199 Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). UMLS:C1844753 human_phenotype HP:0003305 Block vertebrae HP:0003305 Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). https://orcid.org/0000-0002-0736-9199 Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. UMLS:C1858025 Reduced spine movement Rigid spine human_phenotype HP:0003306 Spinal rigidity HP:0003306 Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. PMID:11601420 PMID:2246660 https://orcid.org/0000-0002-0736-9199 Reduced spine movement https://orcid.org/0000-0002-6548-5200 Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. HP:0002939 SNOMEDCT_US:249710008 SNOMEDCT_US:61960001 UMLS:C0024003 Lordosis Prominent swayback human_phenotype HP:0003307 Hyperlordosis HP:0003307 Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. https://orcid.org/0000-0002-0736-9199 Prominent swayback https://orcid.org/0000-0001-6908-9849 A partial dislocation of one or more intervertebral joints in the cervical vertebral column. UMLS:C1846798 human_phenotype HP:0003308 Cervical subluxation HP:0003308 A partial dislocation of one or more intervertebral joints in the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 UMLS:C1868556 Ovoid thoracic and lumbar vertebrae human_phenotype HP:0003309 Ovoid thoracolumbar vertebrae HP:0003309 Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. HP:0004600 UMLS:C1864794 Abnormal odontoid peg Abnormal odontoid process Abnormality of the odontoid process human_phenotype HP:0003310 The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates. Abnormal odontoid process morphology HP:0003310 Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis. PMID:27081234 https://orcid.org/0000-0002-0736-9199 Developmental hypoplasia of the dens of the axis. HP:0003299 HP:0004613 HP:0008481 UMLS:C1846439 Hypoplastic odontoid process Odontoid hypoplasia Small odontoid peg Small odontoid process human_phenotype HP:0003311 Hypoplasia of the odontoid process HP:0003311 Developmental hypoplasia of the dens of the axis. https://orcid.org/0000-0002-0736-9199 Small odontoid peg https://orcid.org/0000-0001-5208-3432 Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. UMLS:C1839326 Abnormal form of the vertebral bodies Abnormal vertebral bodies Abnormally shaped vertebrae human_phenotype HP:0003312 Abnormal vertebral body morphology HP:0003312 true HP:0003313 true HP:0003314 true HP:0003315 A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. UMLS:C1844752 Anterior rachischisis Butterfly vertebrae Sagittal clefting of vertebrae human_phenotype HP:0003316 Butterfly vertebrae HP:0003316 A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. PMID:31448202 PMID:3693103 https://orcid.org/0000-0002-0736-9199 Butterfly vertebrae true HP:0003317 SNOMEDCT_US:298186005 UMLS:C0574967 Cervical spine joint hypermobility human_phenotype HP:0003318 Cervical spine hypermobility HP:0003318 Any abnormality of the cervical vertebral column. HP:0004587 UMLS:C1852464 Abnormal cervical spine Abnormality of cervical vertebra Abnormality of the cervical vertebrae Cervical spine abnormalities Cervical vertebral abnormalities Disorder of cervical vertebra human_phenotype Cervical vertebral anomalies HP:0003319 Abnormality of the cervical spine HP:0003319 Any abnormality of the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 Abnormal cervical spine Abnormality of cervical vertebra https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of the cervical vertebrae https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Cervical vertebral anomalies https://orcid.org/0000-0002-5316-1399 A partial dislocation of the atlantoaxial joints. UMLS:C1848446 human_phenotype HP:0003320 A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. C1-C2 subluxation HP:0003320 A partial dislocation of the atlantoaxial joints. https://orcid.org/0000-0002-0736-9199 HP:0005782 UMLS:C1833753 human_phenotype HP:0003321 Biconcave flattened vertebrae HP:0003321 true HP:0003322 HP:0009032 UMLS:C0240421 Muscle weakness, progressive Progressive muscular weakness human_phenotype HP:0003323 Progressive muscle weakness HP:0003323 Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. HP:0003686 HP:0003723 UMLS:C0746674 Generalised muscle weakness Generalised weakness Generalized weakness Muscle weakness, diffuse Muscle weakness, generalised Muscle weakness, generalized human_phenotype HP:0003324 Generalized muscle weakness HP:0003324 Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. https://orcid.org/0000-0002-0736-9199 Generalised muscle weakness Generalised weakness Muscle weakness, generalised Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. HP:0008971 UMLS:C1858127 Limb girdle weakness Muscle weakness, limb-girdle Muscular weakness, limb-girdle human_phenotype HP:0003325 Limb-girdle muscle weakness HP:0003325 Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. https://orcid.org/0000-0002-0736-9199 Pain in muscle. HP:0003718 SNOMEDCT_US:68962001 UMLS:C0231528 Muscle ache Muscle pain human_phenotype Myalgias HP:0003326 Myalgia HP:0003326 Pain in muscle. https://orcid.org/0000-0002-0736-9199 Muscle ache https://orcid.org/0000-0002-0736-9199 Muscle pain https://orcid.org/0000-0002-0736-9199 Myalgias https://orcid.org/0000-0002-5316-1399 Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). UMLS:C1843697 human_phenotype HP:0003327 Axial muscle weakness HP:0003327 Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). https://orcid.org/0000-0002-0736-9199 An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin. UMLS:C4025632 human_phenotype HP:0003328 Abnormal hairshaft morphology HP:0003328 UMLS:C4025631 human_phenotype HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes HP:0003329 Any anomaly in the composite material or the layered arrangement of the bony skeleton. UMLS:C4025630 human_phenotype HP:0003330 Abnormal bone structure HP:0003330 Any anomaly in the composite material or the layered arrangement of the bony skeleton. https://orcid.org/0000-0002-0736-9199 true HP:0003331 UMLS:C3277126 human_phenotype HP:0003332 Absent primary metaphyseal spongiosa HP:0003332 The activity of beta-hexosaminidase in the blood circulation is above the upper limit of normal. HP:0008299 UMLS:C2673361 Elevated beta-hexosaminidase concentration Elevated beta-hexosaminidase level Elevated beta-hexosaminidase level in blood Increased beta-hexosaminidase concentration Increased beta-hexosaminidase level Increased beta-hexosaminidase level in blood Increased circulating beta-hexosaminidase activity human_phenotype HP:0003333 This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. Elevated circulating beta-hexosaminidase activity HP:0003333 An abnormal increase in catecholamine concentration in the blood. UMLS:C4025629 human_phenotype HP:0003334 Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. Elevated circulating catecholamine level HP:0003334 An abnormal increase in catecholamine concentration in the blood. https://orcid.org/0000-0002-0736-9199 HP:0000044 human_phenotype HP:0003335 obsolete Low gonadotropins (secondary hypogonadism) true HP:0003335 An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. HP:0003331 UMLS:C4025628 human_phenotype HP:0003336 This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. Abnormal enchondral ossification HP:0003336 An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. https://orcid.org/0000-0002-0736-9199 The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. HP:0008172 UMLS:C4021732 Poor prothrombin consumption human_phenotype HP:0003337 Reduced prothrombin consumption HP:0003337 The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. https://orcid.org/0000-0002-0736-9199 UMLS:C4025627 human_phenotype HP:0003338 Focal necrosis of right ventricular muscle cells HP:0003338 A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. UMLS:C4021731 Anaemia corrected by uridylic acid and cytidylic acid Anemia corrected by uridylic acid and cytidylic acid Pyrimidine-responsive megaloblastic anaemia human_phenotype HP:0003339 Pyrimidine-responsive megaloblastic anemia HP:0003339 A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. https://orcid.org/0000-0002-0736-9199 Anaemia corrected by uridylic acid and cytidylic acid Pyrimidine-responsive megaloblastic anaemia HP:0000951 human_phenotype HP:0003340 obsolete Abnormal dermatological laboratory findings true HP:0003340 The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. UMLS:C4021730 Blistering with junctional split Junctional split Subepidermal blistering with cleavage in the lamina lucida human_phenotype HP:0003341 Cleavage within the lamina lucida is observed in junctional epidermolysis bullosa. Lamina lucida cleavage HP:0003341 The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. https://orcid.org/0000-0002-0736-9199 true HP:0003342 Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. SNOMEDCT_US:124706000 SNOMEDCT_US:234589002 SNOMEDCT_US:39112005 UMLS:C0398746 Glutathione synthetase deficiency human_phenotype HP:0003343 Reduced glutathione synthetase level HP:0003343 Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. PMID:17397529 An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. UMLS:C3151952 3-methylglutaricaciduria human_phenotype HP:0003344 3-Methylglutaric aciduria HP:0003344 An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. PMID:19177531 The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. UMLS:C4025626 human_phenotype HP:0003345 Elevated urinary norepinephrine level HP:0003345 The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 true HP:0003346 HP:0025834 human_phenotype HP:0003347 obsolete Impaired lymphocyte transformation with phytohemagglutinin true HP:0003347 An increased concentration of alanine in the blood. SNOMEDCT_US:2359002 UMLS:C0268630 UMLS:C1839424 UMLS:C1849489 Increased blood alanine Increased serum alanine human_phenotype HP:0003348 This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter. Hyperalaninemia HP:0003348 An increased concentration of alanine in the blood. HPO_CONTRIBUTOR:gcarletti PMID:16902722 PMID:4696900 Increased blood alanine Increased serum alanine A reduction in the rate of cholesterol esterification. UMLS:C1843371 human_phenotype HP:0003349 Cholesterol esterification converts free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source. Low cholesterol esterification rate HP:0003349 A reduction in the rate of cholesterol esterification. PMID:3378364 https://orcid.org/0000-0002-0736-9199 true HP:0003350 An decreased level of renin in the blood. HP:0003263 UMLS:C1845206 Decreased circulating renin level Decreased plasma renin activity Low plasma renin activity Suppressed plasma renin activity human_phenotype HP:0003351 Decreased circulating renin concentration HP:0003351 An decreased level of renin in the blood. https://orcid.org/0000-0002-0736-9199 An increase in the number of chromosome sets per cell in bone marrow cells. UMLS:C4025624 human_phenotype HP:0003352 Endopolyploidy is caused by replication without cell division. Endopolyploidy on chromosome studies of bone marrow HP:0003352 An increase in the number of chromosome sets per cell in bone marrow cells. https://orcid.org/0000-0002-0736-9199 An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. SNOMEDCT_US:124718009 SNOMEDCT_US:69080001 UMLS:C0268579 human_phenotype HP:0003353 Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. Propionyl-CoA carboxylase deficiency HP:0003353 An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. https://orcid.org/0000-0002-0736-9199 The concentration of threonine in the blood circulation is above the upper limit of normal. UMLS:C1848861 Elevated circulating threonine Elevated threonine concentration Elevated threonine level Elevated threonine level in blood High blood threonine levels Hyperthreoninemia Increased threonine concentration Increased threonine level Increased threonine level in blood human_phenotype HP:0003354 Hyperthreoninemia HP:0003354 High blood threonine levels https://orcid.org/0000-0001-5208-3432 An increased concentration of an amino acid in the urine. HP:0002903 HP:0008335 HP:0200014 SNOMEDCT_US:35912001 UMLS:C0238621 UMLS:C4020843 High urine amino acid levels Hyperaminoaciduria Increased levels of animo acids in urine human_phenotype Abnormal urinary amino-acid findings HP:0003355 Aminoaciduria HP:0003355 An increased concentration of an amino acid in the urine. https://orcid.org/0000-0002-5316-1399 High urine amino acid levels https://orcid.org/0000-0001-5208-3432 Increased levels of animo acids in urine https://orcid.org/0000-0002-6548-5200 Abnormal urinary amino-acid findings true HP:0003356 A reduction in the level of thymic horomone. UMLS:C1857652 Decreased thymic hormone human_phenotype HP:0003357 Thymic hormone decreased HP:0003357 A reduction in the level of thymic horomone. PMID:7058086 An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. UMLS:C4025623 human_phenotype HP:0003358 Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. Elevated intracellular cystine HP:0003358 An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. https://orcid.org/0000-0002-0736-9199 Decreased concentration of sulfate in the urine. UMLS:C1848958 Decreased urinary sulfate Decreased urinary sulphate human_phenotype HP:0003359 Decreased urinary sulfate HP:0003359 Decreased concentration of sulfate in the urine. https://orcid.org/0000-0002-0736-9199 Decreased urinary sulfate Decreased urinary sulphate true HP:0003360 An increased concentration of tryptophan in the urine. SNOMEDCT_US:18789002 UMLS:C0268472 High urine tryptophan levels human_phenotype HP:0003361 Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. Tryptophanuria HP:0003361 An increased concentration of tryptophan in the urine. HPO_CONTRIBUTOR:gcarletti PMID:18901181 High urine tryptophan levels https://orcid.org/0000-0001-5208-3432 The concentration of very-low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. UMLS:C4021729 Elevated circulating VLDL-C concentration Elevated very-low-density lipoprotein cholesterol concentration Elevated very-low-density lipoprotein cholesterol level Elevated very-low-density lipoprotein cholesterol level in blood Increased circulating very-low-density lipoprotein cholesterol Increased circulating very-low-density lipoprotein levels Increased plasma VLDL cholesterol Increased very-low-density lipoprotein cholesterol concentration Increased very-low-density lipoprotein cholesterol level Increased very-low-density lipoprotein cholesterol level in blood human_phenotype HP:0003362 Elevated circulating VLDL-C concentration HP:0003362 Increased plasma VLDL cholesterol A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. Fyler:3816 SNOMEDCT_US:27317008 SNOMEDCT_US:43876007 UMLS:C0037221 Situs inversus visceralis Situs inversus viscerum human_phenotype HP:0003363 Abdominal situs inversus HP:0003363 A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen. https://orcid.org/0000-0002-0736-9199 true HP:0003364 Joint pain affecting the hip. SNOMEDCT_US:49218002 UMLS:C0019559 Coxalgia Hip arthralgia Hip joint pain human_phenotype HP:0003365 Arthralgia of the hip HP:0003365 Joint pain affecting the hip. https://orcid.org/0000-0002-0736-9199 Hip joint pain https://orcid.org/0000-0001-5208-3432 UMLS:C4025622 Abnormal neck or head of thigh bone Abnormality of the femoral neck or head region human_phenotype HP:0003366 Abnormal femoral neck/head morphology HP:0003366 Abnormal neck or head of thigh bone https://orcid.org/0000-0001-5208-3432 An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C4025621 Abnormal neck of thigh bone Abnormality of the femoral neck human_phenotype HP:0003367 Abnormal femoral neck morphology HP:0003367 An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). https://orcid.org/0000-0002-0736-9199 Abnormal neck of thigh bone https://orcid.org/0000-0001-5208-3432 An abnormality of the femoral head. UMLS:C4025620 Abnormal head of thigh bone Abnormality of the femoral head human_phenotype HP:0003368 Abnormal femoral head morphology HP:0003368 An abnormality of the femoral head. https://orcid.org/0000-0002-0736-9199 Abnormal head of thigh bone https://orcid.org/0000-0001-5208-3432 true HP:0003369 An abnormal flattening of the proximal epiphysis of the femur. HP:0006393 UMLS:C1842155 Flat capital femoral epiphyses Flat end part of innermost thighbone Flat femoral capital epiphyses Flat proximal femoral epiphyses Flattened proximal femoral epiphyses human_phenotype HP:0003370 Flat capital femoral epiphysis HP:0003370 An abnormal flattening of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Flat end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 An abnormal enlargement of the proximal epiphysis of the femur. UMLS:C1859697 Enlarged capital femoral epiphyses Enlarged end part of innermost thighbone human_phenotype HP:0003371 Enlargement of the proximal femoral epiphysis HP:0003371 An abnormal enlargement of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Enlarged end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 true HP:0003372 true HP:0003373 true HP:0003374 A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. HP:0008803 HP:0008805 HP:0008813 HP:0008840 HP:0008842 SNOMEDCT_US:289457006 UMLS:C0566888 Narrow greater sacrosciatic notches Narrow sacroiliac notch Narrow sacrosciatic notch Narrow sciatic notches Narrowed greater sciatic notch Narrowed sacrosciatic notch Small sacrosciatic notch Small sacrosciatic notches human_phenotype HP:0003375 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch. Narrow greater sciatic notch HP:0003375 A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. https://orcid.org/0000-0002-0736-9199 Narrow greater sacrosciatic notches An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. SNOMEDCT_US:27253007 UMLS:C0427149 High stepping human_phenotype HP:0003376 Steppage gait HP:0003376 An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. PMID:27770207 https://orcid.org/0000-0002-0736-9199 High stepping https://orcid.org/0000-0001-5208-3432 true HP:0003377 A pattern of simultaneous degeneration and regeneration of axons (see comment). UMLS:C1968790 Axon degeneration and regeneration human_phenotype HP:0003378 This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibers from the proximal nerve segment. Axonal degeneration/regeneration HP:0003378 A pattern of simultaneous degeneration and regeneration of axons (see comment). https://orcid.org/0000-0002-0736-9199 true HP:0003379 A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). HP:0003385 HP:0003386 HP:0007093 HP:0007135 HP:0007177 HP:0007320 HP:0007322 UMLS:C1858285 Decreased number of large and small myelinated fibers Decreased number of large and small myelinated fibres Decreased number of peripheral myelinated nerve fibres Loss of myelinated fibers Loss of myelinated fibres human_phenotype HP:0003380 This finding can be demonstrated by nerve biopsy. Decreased number of peripheral myelinated nerve fibers HP:0003380 A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). https://orcid.org/0000-0002-0736-9199 Decreased number of large and small myelinated fibres Decreased number of peripheral myelinated nerve fibres Loss of myelinated fibres true HP:0003381 UMLS:C1832776 human_phenotype HP:0003382 Hypertrophic nerve changes HP:0003382 Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. HP:0003389 HP:0007013 HP:0007022 HP:0007084 HP:0008276 UMLS:C1847906 human_phenotype Onion bulb formations HP:0003383 This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. Onion bulb formation HP:0003383 Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. https://orcid.org/0000-0002-0736-9199 Onion bulb formations https://orcid.org/0000-0002-5316-1399 Atrophic changes of axons of the peripheral nervous system. UMLS:C4025619 human_phenotype HP:0003384 This finding is typically demonstrated by nerve biopsy. Peripheral axonal atrophy HP:0003384 Atrophic changes of axons of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0003385 true HP:0003386 A reduced number of large myelinated nerve fibers. HP:0006868 HP:0007031 HP:0007315 UMLS:C1859606 Decreased number of large peripheral myelinated nerve fibres Depletion of large myelinated fibers Depletion of large myelinated fibres Loss of large myelinated fibers Loss of large myelinated fibres Loss of larger myelinated nerve fibers Loss of larger myelinated nerve fibres human_phenotype HP:0003387 This finding can be demonstrated by nerve biopsy. Decreased number of large peripheral myelinated nerve fibers HP:0003387 A reduced number of large myelinated nerve fibers. https://orcid.org/0000-0002-0736-9199 Decreased number of large peripheral myelinated nerve fibres Depletion of large myelinated fibres Loss of large myelinated fibres Loss of larger myelinated nerve fibres Increased susceptibility to fatigue. Tired easily SNOMEDCT_US:248268002 UMLS:C0424585 UMLS:C1837098 human_phenotype HP:0003388 Fatigue describes the inability to continue performing a task after multiple repetitions. Easy fatigability HP:0003388 Increased susceptibility to fatigue. https://orcid.org/0000-0002-0736-9199 Tired easily https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0003389 An axonal neuropathy of peripheral sensory nerves. HP:0006883 HP:0007248 HP:0007345 UMLS:C1842587 UMLS:C1970883 Axonal sensory neuropathy human_phenotype Peripheral sensory axonal neuropathy HP:0003390 Sensory axonal neuropathy HP:0003390 An axonal neuropathy of peripheral sensory nerves. https://orcid.org/0000-0002-0736-9199 A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. SNOMEDCT_US:298294005 SNOMEDCT_US:85905009 UMLS:C0234182 UMLS:C0575071 Gower sign Positive Gower sign Positive Gowers sign human_phenotype HP:0003391 Gowers sign HP:0003391 A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. https://orcid.org/0000-0002-0736-9199 UMLS:C1832277 human_phenotype HP:0003392 First dorsal interossei muscle weakness HP:0003392 Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. UMLS:C1864715 Thenar atrophy human_phenotype HP:0003393 Thenar muscle atrophy HP:0003393 Sudden and involuntary contractions of one or more muscles. HP:0009018 HP:0031988 SNOMEDCT_US:55300003 UMLS:C0026821 Muscle cramps Muscle spasms Nocturnal hand and foot cramps Nocturnal leg cramp Sleep-related dystonia human_phenotype HP:0003394 Muscle spasm HP:0003394 Sudden and involuntary contractions of one or more muscles. https://orcid.org/0000-0002-0736-9199 Muscle cramps Muscle spasms true HP:0003395 Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. HP:0006933 SNOMEDCT_US:111496009 UMLS:C0039144 Fluid-filled cyst in spinal cord Syrinx human_phenotype HP:0003396 Syringomyelia HP:0003396 Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. https://orcid.org/0009-0006-4530-3154 Fluid-filled cyst in spinal cord https://orcid.org/0000-0002-6548-5200 UMLS:C1853950 Generalised hypotonia due to defect at the neuromuscular junction human_phenotype HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction HP:0003397 Generalised hypotonia due to defect at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. UMLS:C4020842 UMLS:C4025618 human_phenotype Abnormality of neuromuscular transmission HP:0003398 Abnormal synaptic transmission at the neuromuscular junction HP:0003398 Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. https://orcid.org/0000-0002-0736-9199 true HP:0003399 A type of onion bulb formation prominently affecting the area of the basal lamina. UMLS:C1866637 Basal lamina 'onion bulb' formations on nerve biopsy human_phenotype HP:0003400 Basal lamina onion bulb formation HP:0003400 A type of onion bulb formation prominently affecting the area of the basal lamina. https://orcid.org/0000-0002-0736-9199 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. HP:0002082 SNOMEDCT_US:91019004 UMLS:C0030554 Paresthesias Pins and needles feeling Tingling human_phenotype HP:0003401 Paresthesia HP:0003401 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. https://orcid.org/0000-0002-0736-9199 Pins and needles feeling Tingling An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. UMLS:C1853952 Decreased MEPP Small miniature endplate currents Small miniature endplate potentials human_phenotype HP:0003402 Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. Decreased miniature endplate potentials HP:0003402 An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. https://orcid.org/0000-0002-0736-9199 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. HP:0003430 HP:0003478 UMLS:C4020841 UMLS:C4021728 EMG: decremental response of CMAP to repetitive nerve stimulation human_phenotype EMG: decrement at repetitive stimulation HP:0003403 The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003403 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. https://orcid.org/0000-0002-0736-9199 true HP:0003404 UMLS:C1865417 human_phenotype HP:0003405 Diffuse axonal swelling HP:0003405 UMLS:C1851414 human_phenotype HP:0003406 Peripheral nerve compression HP:0003406 true HP:0003407 true HP:0003408 Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. HP:0006984 UMLS:C1836527 Distal sensory loss to all modalities human_phenotype HP:0003409 Distal sensory impairment of all modalities HP:0003409 true HP:0003410 Irregularity of the normally smooth surface of the proximal metaphysis of the femur. UMLS:C1836320 Irregular proximal femoral metaphyses human_phenotype HP:0003411 Proximal femoral metaphyseal irregularity HP:0003411 true HP:0003412 An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. UMLS:C4025617 human_phenotype HP:0003413 Atlantoaxial abnormality HP:0003413 An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. https://orcid.org/0000-0002-0736-9199 Partial dislocation of the atlantoaxial joint. SNOMEDCT_US:263042007 SNOMEDCT_US:45179004 UMLS:C0263905 Atlanto-axial subluxation Atlantoaxial subluxation human_phenotype HP:0003414 Atlantoaxial dislocation HP:0003414 Partial dislocation of the atlantoaxial joint. https://orcid.org/0000-0002-0736-9199 true HP:0003415 An abnormal narrowing of the spinal canal. HP:0008446 UMLS:C1861329 Narrow spinal canal Spinal stenosis human_phenotype HP:0003416 Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. Spinal canal stenosis HP:0003416 An abnormal narrowing of the spinal canal. https://orcid.org/0000-0002-0736-9199 Narrow spinal canal Frontal schisis (cleft or cleavage) of vertebral bodies. HP:0003673 UMLS:C1834954 Coronal clefts Coronal vertebral clefts Vertebral coronal clefts coronal cleft of vertebrae human_phenotype HP:0003417 Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. Coronal cleft vertebrae HP:0003417 Frontal schisis (cleft or cleavage) of vertebral bodies. https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. SNOMEDCT_US:161891005 UMLS:C0004604 Back pain human_phenotype HP:0003418 Back pain HP:0003418 Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. SNOMEDCT_US:279039007 UMLS:C0024031 Lower back pain Lumbago human_phenotype HP:0003419 Low back pain HP:0003419 Lumbago true HP:0003420 HP:0000926 human_phenotype HP:0003421 obsolete Platyspondyly (childhood) true HP:0003421 An abnormality related to a defect of vertebral separation during development. HP:0005705 SNOMEDCT_US:205455005 UMLS:C0432163 Abnormal spinal segmentation human_phenotype HP:0003422 The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterfly vertebrae. Vertebral segmentation defect HP:0003422 An abnormality related to a defect of vertebral separation during development. PMID:23653580 PMID:23801490 https://orcid.org/0000-0002-0736-9199 UMLS:C1859335 Dorsolumbar kyphosis human_phenotype HP:0003423 Thoracolumbar kyphoscoliosis HP:0003423 true HP:0003424 true HP:0003425 UMLS:C1832278 human_phenotype HP:0003426 First dorsal interossei muscle atrophy HP:0003426 UMLS:C1832276 human_phenotype HP:0003427 Thenar muscle weakness HP:0003427 true HP:0003428 Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. SNOMEDCT_US:111007000 UMLS:C0544820 UMLS:C4025616 human_phenotype HP:0003429 CNS hypomyelination HP:0003429 Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. https://orcid.org/0000-0002-0736-9199 true HP:0003430 A type of decreased nerve conduction velocity that affects the motor neuron. HP:0000760 HP:0003379 HP:0003395 HP:0003437 HP:0006907 HP:0008170 UMLS:C1858729 Decreased motor NCV Decreased motor nerve conduction velocities Reduced motor nerve conduction velocity human_phenotype HP:0003431 Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. Decreased motor nerve conduction velocity HP:0003431 A type of decreased nerve conduction velocity that affects the motor neuron. https://orcid.org/0000-0002-0736-9199 true HP:0003432 true HP:0003433 UMLS:C1843859 human_phenotype HP:0003434 Sensory ataxic neuropathy HP:0003434 UMLS:C1832279 human_phenotype HP:0003435 Cold-induced hand cramps HP:0003435 An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. HP:0003479 UMLS:C1864238 Prolonged MEPC Prolonged MEPP Prolonged miniature endplate potentials human_phenotype HP:0003436 Prolonged miniature endplate currents HP:0003436 An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. https://orcid.org/0000-0002-0736-9199 true HP:0003437 Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. HP:0007032 HP:0007241 SNOMEDCT_US:274818004 UMLS:C0558845 Absent ankle reflexes human_phenotype HP:0003438 Absent Achilles reflex HP:0003438 Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. https://orcid.org/0000-0002-0736-9199 Absent ankle reflexes true HP:0003439 UMLS:C1850558 human_phenotype HP:0003440 Horizontal sacrum HP:0003440 true HP:0003441 true HP:0003442 A reduction in the size of nerve terminals. UMLS:C4025615 human_phenotype HP:0003443 Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. Decreased size of nerve terminals HP:0003443 A reduction in the size of nerve terminals. https://orcid.org/0000-0002-0736-9199 Evidence of chronic denervation on electromyography. HP:0007059 UMLS:C4025614 human_phenotype HP:0003444 This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. EMG: chronic denervation signs HP:0003444 Evidence of chronic denervation on electromyography. https://orcid.org/0000-0002-0736-9199 The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). HP:0002178 HP:0002547 HP:0007279 UMLS:C4021727 EMG: neurogenic abnormalities EMG: neurogenic changes EMG: neurogenic findings human_phenotype HP:0003445 This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. EMG: neuropathic changes HP:0003445 The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). https://orcid.org/0000-0002-0736-9199 true HP:0003446 A reduction in the number of axons in the peripheral nervous system. HP:0003360 UMLS:C1832338 human_phenotype HP:0003447 This finding can be observed upon nerve biopsy. Axonal loss HP:0003447 A reduction in the number of axons in the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 Reduced speed of conduction of the action potential along a sensory nerve. HP:0006914 UMLS:C1849148 Decreased sensory NCV Decreased sensory nerve conduction velocities human_phenotype HP:0003448 The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibers by the applied electrical impulse. Decreased sensory nerve conduction velocity HP:0003448 Reduced speed of conduction of the action potential along a sensory nerve. https://orcid.org/0000-0002-0736-9199 Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. UMLS:C1861675 human_phenotype HP:0003449 Cold-induced muscle cramps HP:0003449 Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. https://orcid.org/0000-0002-0736-9199 The presence of axonal regeneration following a previous axonal lesion. UMLS:C1854454 Regenerative activity on nerve biopsy human_phenotype HP:0003450 This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. Axonal regeneration HP:0003450 The presence of axonal regeneration following a previous axonal lesion. https://orcid.org/0000-0002-0736-9199 An increased rate of premature chromosome condensation. UMLS:C4025613 human_phenotype HP:0003451 Increased rate of premature chromosome condensation HP:0003451 An increased rate of premature chromosome condensation. https://orcid.org/0000-0002-0736-9199 The concentration of iron cation in the blood circulation is above the upper limit of normal. SNOMEDCT_US:165624002 UMLS:C0151900 Elevated iron cation concentration Elevated iron cation level Elevated iron cation level in blood Increased circulating iron concentration Increased iron cation concentration Increased iron cation level Increased iron cation level in blood Increased serum iron human_phenotype HP:0003452 Elevated circulating iron concentration HP:0003452 The presence of autoantibodies in the serum that react against neutrophils. UMLS:C1858981 Antineutrophil antibodies Neutrophil antibody positive human_phenotype HP:0003453 Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. Antineutrophil antibody positivity HP:0003453 The presence of autoantibodies in the serum that react against neutrophils. https://orcid.org/0000-0002-0736-9199 The presence in the serum of autoantibodies directed against thrombocytes. UMLS:C1858980 Platelet antibody human_phenotype HP:0003454 Platelet antibody positive HP:0003454 The presence in the serum of autoantibodies directed against thrombocytes. https://orcid.org/0000-0002-0736-9199 Increased concentration of long-chain fatty acids in the blood circulation. HP:0008333 HP:0045016 UMLS:C1859241 Elevated long chain fatty acids Elevated serum long-chain fatty acids Increased serum long-chain fatty acids human_phenotype HP:0003455 This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. Elevated circulating long chain fatty acid concentration HP:0003455 Increased concentration of long-chain fatty acids in the blood circulation. https://orcid.org/0000-0002-0736-9199 UMLS:C1864105 human_phenotype HP:0003456 Low urinary cyclic AMP response to PTH administration HP:0003456 Abnormal results of investigations using electromyography (EMG). HP:0002177 HP:0003751 HP:0003753 HP:0100286 SNOMEDCT_US:274523007 UMLS:C0476403 Abnormal EMG Abnormal electromyography finding EMG abnormalities Electromyogram abnormal human_phenotype HP:0003457 EMG abnormality HP:0003457 Abnormal results of investigations using electromyography (EMG). PMID:15961866 PMID:18751841 https://orcid.org/0000-0002-0736-9199 The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. HP:0003322 HP:0003711 HP:0009021 UMLS:C4021726 EMG: myopathic changes EMG: myopathy Myopathic electromyogram human_phenotype HP:0003458 EMG: myopathic abnormalities HP:0003458 The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. https://orcid.org/0000-0002-0736-9199 A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. UMLS:C4025612 human_phenotype HP:0003459 Polyclonal elevation of circulating IgM concentration HP:0003459 A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. PMID:11508831 Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). UMLS:C4025611 Decreased total IgA in blood Total immunoglobulin A deficiency human_phenotype HP:0003460 Chronic decreased circulating IgA concentration HP:0003460 Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). https://orcid.org/0000-0002-0736-9199 Excretion of peptides conjugated to sialic acid in the urine. UMLS:C1836533 human_phenotype HP:0003461 Increased urinary O-linked sialopeptides HP:0003461 Excretion of peptides conjugated to sialic acid in the urine. https://orcid.org/0000-0002-0736-9199 UMLS:C1840013 human_phenotype HP:0003462 Elevated 8-dehydrocholesterol HP:0003462 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. UMLS:C1859828 human_phenotype Lipopigment in extraneuronal cells HP:0003463 Increased extraneuronal autofluorescent lipopigment HP:0003463 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. PMID:11406682 https://orcid.org/0000-0002-0736-9199 HP:0003107 human_phenotype HP:0003464 obsolete Abnormal cholesterol homeostasis true HP:0003464 UMLS:C1840014 human_phenotype HP:0003465 Elevated 8(9)-cholestenol HP:0003465 UMLS:C1968855 human_phenotype HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test HP:0003466 Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. SNOMEDCT_US:202820009 UMLS:C0410653 human_phenotype HP:0003467 Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. Atlantoaxial instability HP:0003467 Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. https://orcid.org/0000-0002-0736-9199 An abnormality of one or more of the vertebrae. HP:0005719 Fyler:4108 SNOMEDCT_US:205043005 SNOMEDCT_US:74877002 UMLS:C0158775 UMLS:C4020839 UMLS:C4020840 Abnormal vertebrae Abnormality of the vertebrae Vertebral anomalies human_phenotype Multiple vertebral anomalies HP:0003468 A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). Abnormal vertebral morphology HP:0003468 An abnormality of one or more of the vertebrae. https://orcid.org/0000-0002-0736-9199 Multiple vertebral anomalies https://orcid.org/0000-0002-5316-1399 Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. UMLS:C4025610 human_phenotype HP:0003469 Peripheral dysmyelination HP:0003469 Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. https://orcid.org/0000-0002-0736-9199 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. SNOMEDCT_US:44695005 UMLS:C0522224 Inability to move Paralysis human_phenotype HP:0003470 Paralysis HP:0003470 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. https://orcid.org/0000-0002-0736-9199 Inability to move https://orcid.org/0000-0001-5208-3432 Paralysis true HP:0003471 Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. SNOMEDCT_US:190869004 UMLS:C0151940 human_phenotype HP:0003472 Hypocalcemic tetany HP:0003472 Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. https://orcid.org/0000-0002-0736-9199 A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HP:0003399 HP:0003428 HP:0100794 UMLS:C0947912 Fatigable weakness of limb muscles Generalised muscle weakness due to defect at the neuromuscular junction Generalized muscle weakness due to defect at the neuromuscular junction Myasthenia Myasthenic weakness Proximal muscle weakness due to defect at the neuromuscular junction human_phenotype HP:0003473 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. Fatigable weakness HP:0003473 A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. https://orcid.org/0000-0002-0736-9199 Generalised muscle weakness due to defect at the neuromuscular junction An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. HP:0100964 SNOMEDCT_US:397974008 SNOMEDCT_US:398026008 SNOMEDCT_US:59073000 UMLS:C0020580 Sensory impairment human_phenotype HP:0003474 This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. Somatic sensory dysfunction HP:0003474 An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. https://orcid.org/0000-0002-0736-9199 true HP:0003475 true HP:0003476 An abnormality characterized by disruption of the normal functioning of peripheral axons. HP:0006814 HP:0006842 HP:0007169 HP:0008304 SNOMEDCT_US:128208007 SNOMEDCT_US:60703000 UMLS:C0270921 UMLS:C1263857 Axonal neuropathy Axonal peripheral neuropathy human_phenotype HP:0003477 This abnormality can be assay by electromyography (EMG) or by nerve biopsy. Peripheral axonal neuropathy HP:0003477 An abnormality characterized by disruption of the normal functioning of peripheral axons. https://orcid.org/0000-0002-0736-9199 true HP:0003478 true HP:0003479 true HP:0003480 A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. HP:0003425 UMLS:C1843077 Segmental demyelination/remyelination human_phenotype HP:0003481 Segmental peripheral demyelination/remyelination HP:0003481 A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. https://orcid.org/0000-0002-0736-9199 Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. UMLS:C4025609 human_phenotype HP:0003482 This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. EMG: axonal abnormality HP:0003482 Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. https://orcid.org/0000-0002-0736-9199 true HP:0003483 Weakness of the muscles of the arms. SNOMEDCT_US:713512009 UMLS:C1698196 Decreased arm strength Weak arm human_phenotype HP:0003484 Upper limb muscle weakness HP:0003484 Weakness of the muscles of the arms. https://orcid.org/0000-0002-0736-9199 Decreased arm strength https://orcid.org/0000-0002-6548-5200 Weak arm https://orcid.org/0000-0002-6548-5200 true HP:0003485 true HP:0003486 Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. HP:0001352 SNOMEDCT_US:246586009 SNOMEDCT_US:366575004 UMLS:C0034935 Extensor plantar reflexes Extensor plantar response Extensor plantar responses Positive Babinski sign human_phenotype HP:0003487 A positive Babinski sign can indicate damage to the corticospinal tract. Babinski sign HP:0003487 Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. https://orcid.org/0000-0002-0736-9199 true HP:0003488 UMLS:C1867971 human_phenotype HP:0003489 Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). Acute episodes of neuropathic symptoms HP:0003489 HP:0003150 human_phenotype HP:0003490 obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA true HP:0003490 An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. UMLS:C4025607 human_phenotype HP:0003491 Elevated urine pyrophosphate HP:0003491 An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. https://orcid.org/0000-0002-0736-9199 An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism. UMLS:C4025606 human_phenotype HP:0003492 'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal)) High urinary gonadotropin level HP:0003492 The presence of autoantibodies in the serum that react against nuclei or nuclear components. SNOMEDCT_US:165850001 UMLS:C0151480 Antinuclear antibodies Antinuclear antibody positive Elevated antinuclear antibody Serum antinuclear antibody human_phenotype HP:0003493 Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. Antinuclear antibody positivity HP:0003493 The presence of autoantibodies in the serum that react against nuclei or nuclear components. https://orcid.org/0000-0002-0736-9199 HP:0000005 human_phenotype HP:0003494 obsolete Loss of heterozygosity, multiple chromosomes true HP:0003494 Cellular accumulation of GM2 gangliosides. UMLS:C1848920 human_phenotype HP:0003495 Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue. GM2-ganglioside accumulation HP:0003495 Cellular accumulation of GM2 gangliosides. PMID:30524313 An abnormally increased level of immunoglobulin M in blood. HP:0002962 UMLS:C1839972 Increased IgM levels Increased levels of IgM human_phenotype HP:0003496 Increased circulating IgM concentration HP:0003496 An abnormally increased level of immunoglobulin M in blood. https://orcid.org/0000-0002-0736-9199 true HP:0003497 A kind of short stature in which different regions of the body are shortened to differing extents. HP:0008895 HP:0008900 UMLS:C0878659 UMLS:C1846797 Short stature, disproportionate human_phenotype Short stature, severe disproportionate HP:0003498 Disproportionate short stature HP:0003498 A kind of short stature in which different regions of the body are shortened to differing extents. https://orcid.org/0000-0002-0736-9199 Short stature, severe disproportionate https://orcid.org/0000-0002-5316-1399 true HP:0003499 true HP:0003500 true HP:0003501 A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. HP:0003503 HP:0008879 HP:0008908 UMLS:C3150077 UMLS:C4020838 short stature, mild human_phenotype Relative short stature HP:0003502 Mild short stature HP:0003502 A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. https://orcid.org/0000-0002-6410-0882 short stature, mild https://orcid.org/0000-0002-5316-1399 true HP:0003503 true HP:0003504 true HP:0003505 true HP:0003506 true HP:0003507 A kind of short stature in which different regions of the body are shortened to a comparable extent. HP:0003499 UMLS:C0878660 Proportionate small stature Short stature, proportionate human_phenotype HP:0003508 Proportionate short stature HP:0003508 A kind of short stature in which different regions of the body are shortened to a comparable extent. https://orcid.org/0000-0002-0736-9199 true HP:0003509 A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. HP:0001424 HP:0001516 HP:0003504 HP:0008867 HP:0008884 HP:0008907 HP:0008920 HP:0008930 SNOMEDCT_US:237836003 SNOMEDCT_US:237837007 SNOMEDCT_US:422065006 UMLS:C0013336 Dwarfism Proportionate dwarfism Severe short stature Short stature, extreme Short stature, severe human_phenotype HP:0003510 The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). Severe short stature HP:0003510 A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. https://orcid.org/0000-0002-0736-9199 Dwarfism Proportionate dwarfism Severe short stature Short stature, extreme https://orcid.org/0000-0002-5316-1399 Short stature, severe https://orcid.org/0000-0002-5316-1399 true HP:0003511 true HP:0003512 A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. UMLS:C4025605 Reduced ration of kidney calcium clearance to creatinine clearance Reduced ration of renal Ca clearance to creatinine clearance Reduced ration of renal Ca2+ to creatinine clearance human_phenotype HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance HP:0003513 A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01. https://orcid.org/0000-0002-0736-9199 Reduced ration of kidney calcium clearance to creatinine clearance https://orcid.org/0000-0001-7941-2961 Reduced ration of renal Ca clearance to creatinine clearance https://orcid.org/0000-0001-7941-2961 Reduced ration of renal Ca2+ to creatinine clearance https://orcid.org/0000-0001-7941-2961 UMLS:C1844390 Deficiency or absence of cytochrome b human_phenotype HP:0003514 Deficiency or absence of cytochrome b(-245) HP:0003514 true HP:0003515 true HP:0003516 UMLS:C1839271 Fetal overgrowth Foetal overgrowth human_phenotype HP:0003517 Birth length greater than 97th percentile HP:0003517 Foetal overgrowth true HP:0003518 true HP:0003519 true HP:0003520 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. HP:0001524 HP:0003500 HP:0008923 UMLS:C1846435 Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism human_phenotype HP:0003521 Disproportionate short-trunk short stature HP:0003521 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. https://orcid.org/0000-0002-0736-9199 Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism true HP:0003522 true HP:0003523 A reduction in methionine synthase activity. UMLS:C1848580 Decreased activity of methionine synthase Methionine synthase activity decreased Methionine synthase deficiency Reduced methionine synthase activity human_phenotype HP:0003524 Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. Decreased methionine synthase activity HP:0003524 A reduction in methionine synthase activity. https://orcid.org/0000-0002-0736-9199 true HP:0003525 Formation of crystals owing to an increased concentration of orotic acid in the urine. UMLS:C3278626 human_phenotype HP:0003526 Orotic acid crystalluria HP:0003526 Formation of crystals owing to an increased concentration of orotic acid in the urine. https://orcid.org/0000-0002-0736-9199 An increased concentration of prostaglandin in the urine. UMLS:C1866498 High urine prostaglandin levels human_phenotype HP:0003527 Hyperprostaglandinuria HP:0003527 An increased concentration of prostaglandin in the urine. https://orcid.org/0000-0002-0736-9199 High urine prostaglandin levels https://orcid.org/0000-0001-5208-3432 Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal. UMLS:C1868394 Elevated calcitonin human_phenotype HP:0003528 Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. Elevated circulating calcitonin concentration HP:0003528 Elevated calcitonin An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. UMLS:C4025604 Parathormone-independent increased renal tubular Ca reabsorption Parathormone-independent increased renal tubular Ca2+ reabsorption human_phenotype HP:0003529 This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. Parathormone-independent increased renal tubular calcium reabsorption HP:0003529 An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. PMID:23802516 https://orcid.org/0000-0002-0736-9199 Parathormone-independent increased renal tubular Ca reabsorption https://orcid.org/0000-0001-7941-2961 Parathormone-independent increased renal tubular Ca2+ reabsorption https://orcid.org/0000-0001-7941-2961 An increased concentration of glutaric acid in the blood. UMLS:C4025603 Glutarate acidemia Glutaric acidemia human_phenotype HP:0003530 Elevated circulating glutaric acid concentration HP:0003530 An increased concentration of glutaric acid in the blood. HPO_CONTRIBUTOR:gcarletti Glutarate acidemia https://orcid.org/0000-0001-9969-8610 true HP:0003531 Level of ornithine in the urine above the upper limit of normal. UMLS:C4025602 Ornithine high in urine human_phenotype HP:0003532 Ornithinuria HP:0003532 Level of ornithine in the urine above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism. UMLS:C4025601 Delayed oxidation of acetaldehyde human_phenotype HP:0003533 In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. Reduced acetaldehyde dehydrogenase level HP:0003533 Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism. PMID:17718394 An abnormal reduction in xanthine dehydrogenase level. SNOMEDCT_US:124147007 SNOMEDCT_US:72682008 UMLS:C0268118 UMLS:C4025600 human_phenotype Xanthine dehydrogenase deficiency HP:0003534 This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. Reduced xanthine dehydrogenase level HP:0003534 An abnormal reduction in xanthine dehydrogenase level. https://orcid.org/0000-0002-0736-9199 An increased amount of 3-methylglutaconic acid in the urine. SNOMEDCT_US:237950009 UMLS:C3696376 3-Methylglutaconicaciduria human_phenotype HP:0003535 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. 3-Methylglutaconic aciduria HP:0003535 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. UMLS:C1853903 human_phenotype HP:0003536 Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. Decreased fumarate hydratase activity HP:0003536 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. https://orcid.org/0000-0002-0736-9199 The concentration of uric acid in the blood circulation is below the lower limit of normal. SNOMEDCT_US:4519003 UMLS:C0221333 Decreased uric acid concentration Decreased uric acid level Decreased uric acid level in blood Hypouricemia Low blood uric acid levels Reduced uric acid concentration Reduced uric acid level Reduced uric acid level in blood human_phenotype HP:0003537 Hypouricemia HP:0003537 Low blood uric acid levels https://orcid.org/0000-0001-5208-3432 An increased level of iduronate-2-sulfatase activity in the blood. UMLS:C2673363 UMLS:C4025599 Increased serum iduronate sulfatase level human_phenotype Increased serum iduronate sulfatase HP:0003538 Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. Increased iduronate sulfatase level HP:0003538 An increased level of iduronate-2-sulfatase activity in the blood. https://orcid.org/0000-0002-0736-9199 true HP:0003539 An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. HP:0008177 UMLS:C1855853 Defective platelet aggregation Deficient platelet aggregation Platelet aggregation defect human_phenotype HP:0003540 Impaired platelet aggregation HP:0003540 An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. https://orcid.org/0000-0002-7744-1790 Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. UMLS:C4025598 human_phenotype HP:0003541 Urinary glycosaminoglycan excretion HP:0003541 Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. https://orcid.org/0000-0002-0736-9199 The concentration of pyruvate in the blood circulation is above the upper limit of normal. UMLS:C1849488 Increased serum pyruvate Increased serum pyruvic acid human_phenotype HP:0003542 An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. Increased circulating pyruvate concentration HP:0003542 The concentration of pyruvate in the blood circulation is above the upper limit of normal. HPO_CONTRIBUTOR:gcarletti true HP:0003543 true HP:0003544 true HP:0003545 A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. SNOMEDCT_US:267044007 UMLS:C0424551 Decreased ability to exercise Inability to exercise Low exercise endurance Poor exercise tolerance human_phenotype HP:0003546 Exercise intolerance HP:0003546 A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. PMID:10617757 Decreased ability to exercise PMID:10617757 https://orcid.org/0000-0002-6548-5200 Inability to exercise PMID:10617757 https://orcid.org/0000-0002-6548-5200 The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. HP:0003695 HP:0009009 SNOMEDCT_US:249940002 UMLS:C0427063 UMLS:C0748691 Muscle weakness, shoulder-girdle Shoulder girdle weakness Shoulder weakness Weak shoulder muscles human_phenotype HP:0003547 Shoulder girdle muscle weakness HP:0003547 The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. https://orcid.org/0000-0002-0736-9199 Weak shoulder muscles https://orcid.org/0000-0002-6548-5200 An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. UMLS:C4025597 human_phenotype HP:0003548 This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. Subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548 An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. https://orcid.org/0000-0002-0736-9199 Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). UMLS:C4025596 human_phenotype HP:0003549 Abnormality of connective tissue HP:0003549 Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). https://orcid.org/0000-0002-0736-9199 Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. UMLS:C1835228 human_phenotype HP:0003550 Predominantly lower limb lymphedema HP:0003550 Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. https://orcid.org/0000-0002-0736-9199 Reduced ability to climb stairs. HP:0007019 SNOMEDCT_US:282195009 UMLS:C0239067 Difficulty walking up stairs human_phenotype HP:0003551 Difficulty climbing stairs HP:0003551 Reduced ability to climb stairs. https://orcid.org/0000-0002-0736-9199 Difficulty walking up stairs A condition in which muscles cannot be moved quickly without accompanying pain or spasm. HP:0009014 SNOMEDCT_US:16046003 UMLS:C0221170 human_phenotype HP:0003552 Muscle stiffness HP:0003552 A condition in which muscles cannot be moved quickly without accompanying pain or spasm. https://orcid.org/0000-0002-0736-9199 HP:0100658 human_phenotype HP:0003553 obsolete Cellulitis due to immunodeficiency true HP:0003553 Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. UMLS:C1864580 Type 2 fiber atrophy Type 2 fibre atrophy Type 2 muscle fibre atrophy human_phenotype HP:0003554 This finding can be demonstrated by muscle biopsy. Type 2 muscle fiber atrophy HP:0003554 Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. https://orcid.org/0000-0002-0736-9199 Type 2 fibre atrophy Type 2 muscle fibre atrophy Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. UMLS:C1836057 Fiber splitting Fibre splitting Muscle fiber splitting human_phenotype HP:0003555 Muscle fiber splitting HP:0003555 Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. PMID:6123177 true HP:0003556 An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. HP:0003556 UMLS:C1843700 Increased fiber size variation Increased fibre size variation Increased variability in muscle fiber size Increased variability in muscle fibre diameter Increased variability in muscle fibre size Increased variation in fiber size Increased variation in fibre size Increased variation in muscle fiber size Increased variation in muscle fibre size Variation in muscle fiber size Variation in muscle fibre size human_phenotype HP:0003557 This finding can be demonstrated by muscle biopsy. Increased variability in muscle fiber diameter HP:0003557 An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. https://orcid.org/0000-0002-0736-9199 Increased fibre size variation Increased variability in muscle fibre diameter Increased variability in muscle fibre size Increased variation in fibre size Increased variation in muscle fibre size Variation in muscle fibre size Rhabdomyolysis induced by a viral infection. UMLS:C4025595 human_phenotype HP:0003558 Viral infection-induced rhabdomyolysis HP:0003558 Rhabdomyolysis induced by a viral infection. https://orcid.org/0000-0002-0736-9199 UMLS:C1853701 human_phenotype HP:0003559 Muscle hyperirritability HP:0003559 The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. HP:0003544 HP:0003741 HP:0003793 HP:0003806 HP:0007081 SNOMEDCT_US:193225000 SNOMEDCT_US:73297009 UMLS:C0026850 UMLS:C1864711 Congenital muscular dystrophy human_phenotype Muscle biopsy shows dystrophic changes HP:0003560 Muscular dystrophy can be demonstrated by muscle biopsy. Muscular dystrophy HP:0003560 The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. https://orcid.org/0000-0001-9046-3540 https://orcid.org/0000-0002-0736-9199 Muscle biopsy shows dystrophic changes https://orcid.org/0000-0002-5316-1399 UMLS:C1855650 Birth length < 3rd percentile Birth length <3rd percentile human_phenotype HP:0003561 Birth length less than 3rd percentile HP:0003561 UMLS:C3277127 human_phenotype HP:0003562 Abnormal metaphyseal vascular invasion HP:0003562 The concentration of low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. SNOMEDCT_US:190786004 UMLS:C0020597 UMLS:C0853085 Decreased LDLc concentration Decreased circulating LDL-C concentration Decreased circulating low-density lipoprotein levels Decreased low-density lipoprotein cholesterol concentration Decreased low-density lipoprotein cholesterol level Decreased low-density lipoprotein cholesterol level in blood Hypobetalipoproteinemia Reduced low-density lipoprotein cholesterol concentration Reduced low-density lipoprotein cholesterol level Reduced low-density lipoprotein cholesterol level in blood human_phenotype Decreased LDL HP:0003563 Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. Decreased circulating LDL-C concentration HP:0003563 Decreased LDLc concentration Decreased LDL The presence of a folate sensitive fragile site at chromosome Xq28. UMLS:C1839785 human_phenotype HP:0003564 Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). Folate-dependent fragile site at Xq28 HP:0003564 The presence of a folate sensitive fragile site at chromosome Xq28. https://orcid.org/0000-0002-0736-9199 An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. SNOMEDCT_US:165468009 UMLS:C0151632 Elevated ESR Elevated sedimentation rate High ESR High erythrocyte sedimentation rate Increased erythrocyte sedimentation rate Raised erythrocyte sedimentation rate human_phenotype HP:0003565 Elevated erythrocyte sedimentation rate HP:0003565 An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. PMID:10524488 Elevated ESR https://orcid.org/0000-0001-7941-2961 High ESR An increased concentration of prostaglandin E2 in the blood. HP:0008298 UMLS:C3150358 Elevated prostaglandin E2 human_phenotype HP:0003566 Increased serum prostaglandin E2 HP:0003566 An increased concentration of prostaglandin E2 in the blood. https://orcid.org/0000-0002-0736-9199 true HP:0003567 A decreased level of glucose-6-phosphate isomerase. HP:0003290 SNOMEDCT_US:124669001 UMLS:C1291611 Decreased glucose phosphate isomerase activity Glucosephosphate isomerase deficiency Phosphohexose isomerase deficiency human_phenotype HP:0003568 Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). Decreased glucosephosphate isomerase level HP:0003568 A decreased level of glucose-6-phosphate isomerase. HPO_CONTRIBUTOR:gcarletti true HP:0003569 Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. SNOMEDCT_US:29692004 UMLS:C0268119 human_phenotype HP:0003570 Molybdenum cofactor deficiency HP:0003570 Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. https://orcid.org/0000-0002-0736-9199 Increased concentration of proprionic acid in the blood circulation. SNOMEDCT_US:124718009 SNOMEDCT_US:69080001 UMLS:C0268579 human_phenotype HP:0003571 Propionic acidemia HP:0003571 Increased concentration of proprionic acid in the blood circulation. PMID:22593918 A decreased concentration of citrulline in the blood. UMLS:C1839532 human_phenotype HP:0003572 Low plasma citrulline HP:0003572 A decreased concentration of citrulline in the blood. HPO_CONTRIBUTOR:gcarletti Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. HP:0008168 SNOMEDCT_US:176271000119108 UMLS:C0741494 High bili total Increased bilirubin human_phenotype HP:0003573 Increased total bilirubin HP:0003573 Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. https://orcid.org/0000-0002-0736-9199 High bili total A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. UMLS:C4025594 human_phenotype HP:0003574 Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and blood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. Positive regitine blocking test HP:0003574 A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. https://orcid.org/0000-0002-0736-9199 An abnormally increased sodium concentration in the cytosol. UMLS:C4025593 High intracellular Na Increased intracellular Na+ levels human_phenotype HP:0003575 Increased intracellular sodium HP:0003575 An abnormally increased sodium concentration in the cytosol. HPO_CONTRIBUTOR:gcarletti true HP:0003576 A phenotypic abnormality that is present at birth. HP:0003595 HP:0003601 HP:0003624 HP:0003660 HP:0003666 UMLS:C1836142 UMLS:C2752013 Onset at birth Symptoms present at birth human_phenotype HP:0003577 Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). Congenital onset HP:0003577 A phenotypic abnormality that is present at birth. https://orcid.org/0000-0002-0736-9199 Symptoms present at birth https://orcid.org/0000-0002-6548-5200 true HP:0003578 true HP:0003579 true HP:0003580 Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. HP:0003585 HP:0003598 HP:0003627 HP:0003662 HP:0003669 UMLS:C1853562 Onset in adulthood Onset in early adulthood Symptoms begin in adulthood human_phenotype HP:0003581 Adult onset HP:0003581 Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. https://orcid.org/0000-0002-0736-9199 Symptoms begin in adulthood https://orcid.org/0000-0002-6548-5200 true HP:0003582 true HP:0003583 A type of adult onset with onset of symptoms after the age of 60 years. UMLS:C4025592 human_phenotype HP:0003584 Late onset HP:0003584 A type of adult onset with onset of symptoms after the age of 60 years. https://orcid.org/0000-0002-0736-9199 true HP:0003585 true HP:0003586 Gradual, very slow onset of disease manifestations. SNOMEDCT_US:367326009 SNOMEDCT_US:61751001 UMLS:C0332164 UMLS:C1298634 Gradual onset human_phenotype HP:0003587 Insidious onset HP:0003587 Gradual, very slow onset of disease manifestations. https://orcid.org/0000-0002-0736-9199 Gradual onset true HP:0003588 true HP:0003589 true HP:0003590 true HP:0003591 true HP:0003592 Onset of signs or symptoms of disease between 28 days to one year of life. HP:0003576 HP:0003579 HP:0003591 HP:0003594 HP:0003599 HP:0003600 HP:0003629 HP:0003631 HP:0003667 HP:0003672 HP:0010573 UMLS:C1848924 Infantile onset Onset in first year of life Onset in infancy human_phenotype HP:0003593 Onset of signs or symptoms of disease within the first 12 months of life. Infantile onset HP:0003593 Onset of signs or symptoms of disease between 28 days to one year of life. https://orcid.org/0000-0002-0736-9199 Infantile onset Onset in first year of life Onset in infancy true HP:0003594 true HP:0003595 A type of adult onset with onset of symptoms at the age of 40 to 60 years. UMLS:C1969363 human_phenotype HP:0003596 Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. Middle age onset HP:0003596 A type of adult onset with onset of symptoms at the age of 40 to 60 years. https://orcid.org/0000-0002-0736-9199 true HP:0003597 true HP:0003598 true HP:0003599 true HP:0003600 true HP:0003601 true HP:0003602 true HP:0003603 true HP:0003604 true HP:0003605 Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. UMLS:C4025591 human_phenotype HP:0003606 Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. Absent urinary urothione HP:0003606 Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. PMID:6960353 https://orcid.org/0000-0002-0736-9199 Increased concentration of 4-hydroxyphenylacetic acid in the urine. HP:0033304 UMLS:C1848680 Elevated urine 4-hydroxyphenylacetic acid level human_phenotype HP:0003607 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. 4-hydroxyphenylacetic aciduria HP:0003607 Increased concentration of 4-hydroxyphenylacetic acid in the urine. https://orcid.org/0000-0002-0736-9199 true HP:0003608 The presence of foam cells that contain lamellar inclusion bodies. UMLS:C4025590 human_phenotype HP:0003609 Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. Foam cells with lamellar inclusion bodies HP:0003609 The presence of foam cells that contain lamellar inclusion bodies. https://orcid.org/0000-0002-0736-9199 Increased cytoplasmic staining of fibroblasts with toluidine blue. UMLS:C1835008 human_phenotype HP:0003610 Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. Fibroblast metachromasia HP:0003610 Increased cytoplasmic staining of fibroblasts with toluidine blue. PMID:4195824 https://orcid.org/0000-0002-0736-9199 true HP:0003611 If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. UMLS:C4025589 Positive FeCl3 test human_phenotype HP:0003612 The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevated in phenylketonuria. Positive ferric chloride test HP:0003612 If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. https://orcid.org/0000-0002-0736-9199 Positive FeCl3 test https://orcid.org/0000-0001-7941-2961 The presence of circulating autoantibodies to phospholipids. UMLS:C4019436 Antiphospholipid antibodies Antiphospholipid antibody Phospholipid antibody positivity human_phenotype HP:0003613 This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. Antiphospholipid antibody positivity HP:0003613 The presence of circulating autoantibodies to phospholipids. https://orcid.org/0000-0002-0736-9199 Increased concentration of trimethylamine in the urine. SNOMEDCT_US:237959005 UMLS:C0342739 High urine trimethylamine levels human_phenotype HP:0003614 Increased concentration of trimethylamine, an organic amino compound with an odor characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. Trimethylaminuria HP:0003614 Increased concentration of trimethylamine in the urine. https://orcid.org/0000-0002-0736-9199 High urine trimethylamine levels https://orcid.org/0000-0001-5208-3432 true HP:0003615 UMLS:C1849316 human_phenotype HP:0003616 Premature separation of centromeric heterochromatin HP:0003616 true HP:0003617 true HP:0003618 true HP:0003619 true HP:0003620 Onset of signs or symptoms of disease between the age of 5 and 15 years. HP:0003578 HP:0003580 HP:0003582 HP:0003583 HP:0003589 HP:0003592 HP:0003604 HP:0003619 HP:0003620 HP:0003625 HP:0003659 HP:0003661 HP:0003670 UMLS:C4025588 Signs and symptoms begin before 15 years of age human_phenotype HP:0003621 Juvenile onset HP:0003621 Onset of signs or symptoms of disease between the age of 5 and 15 years. https://orcid.org/0000-0002-0736-9199 Signs and symptoms begin before 15 years of age https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0003622 Onset of signs or symptoms of disease within the first 28 days of life. HP:0003622 UMLS:C1855106 Neonatal onset Onset in first weeks of life Onset in neonatal period human_phenotype HP:0003623 Neonatal onset HP:0003623 Onset of signs or symptoms of disease within the first 28 days of life. https://orcid.org/0000-0002-0736-9199 Neonatal onset true HP:0003624 true HP:0003625 true HP:0003626 true HP:0003627 true HP:0003628 true HP:0003629 true HP:0003630 true HP:0003631 true HP:0003632 true HP:0003633 Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. HP:0008990 SNOMEDCT_US:205532005 UMLS:C0432185 Absent muscles since birth Congenital absence of muscles human_phenotype HP:0003634 Amyoplasia HP:0003634 Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. https://orcid.org/0000-0001-9046-3540 https://orcid.org/0000-0002-0736-9199 Absent muscles since birth https://orcid.org/0000-0001-5208-3432 Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. HP:0003757 UMLS:C1837764 Loss of fat tissue below the skin in limbs Loss of subcutaneous adipose tissue from extremities human_phenotype HP:0003635 Loss of subcutaneous adipose tissue in limbs HP:0003635 Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. https://orcid.org/0000-0002-0736-9199 Loss of fat tissue below the skin in limbs https://orcid.org/0000-0001-5208-3432 true HP:0003636 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. UMLS:C4025587 Reduced 4-Hydroxyphenylpyruvate dioxygenase level Reducted HPPD activity human_phenotype HP:0003637 Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity HP:0003637 Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 Reducted HPPD activity true HP:0003638 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. UMLS:C1868393 Increased urinary epinephrine human_phenotype HP:0003639 Elevated urinary epinephrine level HP:0003639 The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system. UMLS:C1843373 human_phenotype HP:0003640 CNS foam cells HP:0003640 The presence of free hemoglobin in the urine. SNOMEDCT_US:68600005 UMLS:C0019048 Haemoglobin in urine Hemoglobin in urine human_phenotype HP:0003641 If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. Hemoglobinuria HP:0003641 The presence of free hemoglobin in the urine. https://orcid.org/0000-0002-0736-9199 Haemoglobin in urine Hemoglobin in urine https://orcid.org/0000-0001-5208-3432 Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. UMLS:C1837899 Abnormal isoelectric focusing of serum transferrin, type I pattern Isoelectric focusing of serum transferrin consistent with CDG type I Type 1 transferrin isoform profile human_phenotype HP:0003642 There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. Type I transferrin isoform profile HP:0003642 Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. PMID:15105360 PMID:22516080 https://orcid.org/0000-0002-0736-9199 Abnormally reduced sulfite oxidase level. SNOMEDCT_US:367368009 UMLS:C0268624 human_phenotype HP:0003643 Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. Sulfite oxidase deficiency HP:0003643 Abnormally reduced sulfite oxidase level. https://orcid.org/0000-0002-0736-9199 true HP:0003644 Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. SNOMEDCT_US:409675001 UMLS:C0240671 Abnormal partial thromboplastin time Delayed thromboplastin generation Partial thromboplastin time prolonged Prolonged PTT Prolonged activated partial thromboplastin time human_phenotype HP:0003645 Prolonged partial thromboplastin time HP:0003645 Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. https://orcid.org/0000-0002-0736-9199 Prolonged PTT Abnormally increased concentration of hydrogencarbonate in the urine. UMLS:C1839865 Increased urine HCO3 concentration Increased urine bicarbonate concentration human_phenotype HP:0003646 Bicarbonaturia HP:0003646 Abnormally increased concentration of hydrogencarbonate in the urine. https://orcid.org/0000-0002-0736-9199 Increased urine bicarbonate concentration A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. UMLS:C4025586 human_phenotype HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003647 A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. PMID:2989828 An increased concentration of lactic acid in the urine. UMLS:C4025585 High urine lactic acid levels Increased urine lactate human_phenotype HP:0003648 Lacticaciduria HP:0003648 An increased concentration of lactic acid in the urine. https://orcid.org/0000-0002-0736-9199 High urine lactic acid levels https://orcid.org/0000-0001-5208-3432 Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds. 2008-03-08T08:32:00Z UMLS:C4025584 Abnormality of glycoside metabolism human_phenotype HP:0003649 Glycosides are molecules with a sugar moiety bound to some other moiety. Abnormal glycosidase enzyme activity HP:0003649 Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds. https://orcid.org/0000-0002-0736-9199 true HP:0003650 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. HP:0003650 SNOMEDCT_US:16980002 UMLS:C0016390 Foamy histiocytes Foamy macrophages Lipid-laden histiocytes Presence of foam cells human_phenotype HP:0003651 Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. Foam cells HP:0003651 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. https://orcid.org/0000-0002-0736-9199 Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. HP:0008313 UMLS:C1838877 Myoglobinuria, episodic Myoglobinuria, recurrent human_phenotype HP:0003652 Recurrent myoglobinuria HP:0003652 Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. https://orcid.org/0000-0002-0736-9199 Myoglobinuria, recurrent https://orcid.org/0000-0002-5316-1399 Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. UMLS:C4025583 human_phenotype HP:0003653 This investigation is no longer in common use. Cellular metachromasia HP:0003653 Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. PMID:4195824 https://orcid.org/0000-0002-0736-9199 An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. SNOMEDCT_US:77365006 UMLS:C1959620 UMLS:C4025582 human_phenotype Dihydropyrimidine dehydrogenase deficiency HP:0003654 Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. Reduced dihydropyrimidine dehydrogenase level HP:0003654 An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. HPO_CONTRIBUTOR:gcarletti An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. UMLS:C4021725 Deficient N-acetylglucosaminyltransferase II human_phenotype HP:0003655 Reduced level of N-acetylglucosaminyltransferase II HP:0003655 An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. HPO_CONTRIBUTOR:gcarletti Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. UMLS:C1842710 Decreased lysosomal acid glucosylceramidase activity human_phenotype HP:0003656 An enzyme that hydrolyzes beta-glucosides in cerebrosides. Decreased beta-glucocerebrosidase level HP:0003656 Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin. HP:0034379 UMLS:C1859833 Granular osmiophilic deposits (GROD) in cells human_phenotype HP:0003657 In CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy), GOM deposits can be observed located in the neighborhood of the smooth muscle cells, often within an infolding of the cell membrane. Vascular granular osmiophilic material deposition HP:0003657 Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin. PMID:17183453 PMID:31667734 A decreased concentration of methionine in the blood. UMLS:C1848555 Decreased plasma methionine Decreased serum methionine human_phenotype HP:0003658 Normal methionine blood levels are around 30 micromole per liter. Hypomethioninemia HP:0003658 A decreased concentration of methionine in the blood. HPO_CONTRIBUTOR:gcarletti Decreased plasma methionine Decreased serum methionine true HP:0003659 true HP:0003660 true HP:0003661 true HP:0003662 true HP:0003663 true HP:0003664 Muscular atrophy affecting the muscles of the pelvis. 2008-04-07T10:57:00Z UMLS:C4025581 human_phenotype HP:0003665 Amyotrophy of the musculature of the pelvis HP:0003665 Muscular atrophy affecting the muscles of the pelvis. https://orcid.org/0000-0002-0736-9199 true HP:0003666 true HP:0003667 true HP:0003668 true HP:0003669 true HP:0003670 true HP:0003671 true HP:0003672 true HP:0003673 The age group in which disease manifestations appear. HP:0003588 HP:0003590 HP:0003597 HP:0003602 HP:0003603 HP:0003618 HP:0003626 HP:0003628 HP:0003630 HP:0003663 HP:0003664 HP:0003668 HP:0011007 UMLS:C0206132 Age of onset Age symptoms begin human_phenotype HP:0003674 Adolescent is defined by WHO as a person between 10-19 years of age. Onset HP:0003674 The age group in which disease manifestations appear. https://orcid.org/0000-0002-0736-9199 Age symptoms begin https://orcid.org/0000-0002-6548-5200 true HP:0003675 Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. SNOMEDCT_US:252157006 SNOMEDCT_US:255314001 UMLS:C0205329 UMLS:C1864985 Worsens with time human_phenotype Progressive disorder HP:0003676 Progressive HP:0003676 Worsens with time https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. HP:0003675 HP:0003681 UMLS:C1854494 Signs and symptoms worsen slowly with time Slow disease progression Slow progression Slowly progressive disorder human_phenotype HP:0003677 Slowly progressive HP:0003677 Signs and symptoms worsen slowly with time https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Applies to a disease manifestation that quickly increases in scope or severity over the course of time. UMLS:C1838681 UMLS:C1850776 Rapid progression Worsening quickly human_phenotype Rapidly progressive disorder HP:0003678 Rapidly progressive HP:0003678 Worsening quickly https://orcid.org/0000-0002-6548-5200 Rapidly progressive disorder https://orcid.org/0000-0002-5316-1399 UMLS:C4025580 human_phenotype HP:0003679 Pace of progression HP:0003679 Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. HP:0003685 SNOMEDCT_US:702322003 UMLS:C3839460 Does not worsen Non-progressive Nonprogressive course Nonprogressive disorder Stationary human_phenotype HP:0003680 Nonprogressive HP:0003680 Does not worsen http://purl.obolibrary.org/obo/hp#layperson https://orcid.org/0000-0002-6548-5200 true HP:0003681 Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another. UMLS:C1970284 human_phenotype HP:0003682 Variable progression rate HP:0003682 HP:0000444 human_phenotype HP:0003683 obsolete Large beaked nose true HP:0003683 true HP:0003684 true HP:0003685 true HP:0003686 An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). UMLS:C1842170 Central nuclei Centralised nuclei Centralised sarcomeric nuclei Centralized nuclei Centralized sarcomeric nuclei Centrally nucleated skeletal muscle fibres human_phenotype HP:0003687 Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). Centrally nucleated skeletal muscle fibers HP:0003687 An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). PMID:20181480 https://orcid.org/0000-0002-0736-9199 Centralised nuclei Centralised sarcomeric nuclei Centrally nucleated skeletal muscle fibres An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. HP:0003734 HP:0009006 UMLS:C4021724 Cytochrome C oxidase-negative muscle fibres Cytochrome c oxidase deficiency in skeletal muscle Decreased activity of cytochrome C oxidase in muscle tissue Decreased skeletal muscle cytochrome c oxidase activity human_phenotype HP:0003688 This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. Cytochrome C oxidase-negative muscle fibers HP:0003688 An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. https://orcid.org/0000-0002-0736-9199 Cytochrome C oxidase-negative muscle fibres The presence of multiple deletions of mitochondrial DNA (mtDNA). HP:0003801 UMLS:C3277376 Multiple mtDNA deletions human_phenotype HP:0003689 This feature can be demonstrated by muscle biopsy. Multiple mitochondrial DNA deletions HP:0003689 The presence of multiple deletions of mitochondrial DNA (mtDNA). https://orcid.org/0000-0002-0736-9199 Reduced strength and weakness of the muscles of the arms and legs. HP:0002534 SNOMEDCT_US:713514005 UMLS:C0587246 Limb muscle weakness Limb weakness human_phenotype HP:0003690 Limb muscle weakness HP:0003690 Reduced strength and weakness of the muscles of the arms and legs. https://orcid.org/0009-0006-4530-3154 Limb muscle weakness Limb weakness Abnormal protrusion of the scapula away from the surface of the back. HP:0000783 MEDDRA:10067628 SNOMEDCT_US:17211005 UMLS:C0240953 UMLS:C4072849 Scapula alata Winged scapulae Winged scapulas Winged shoulder blade human_phenotype Scapular weakness HP:0003691 The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging. Scapular winging HP:0003691 Abnormal protrusion of the scapula away from the surface of the back. https://orcid.org/0000-0002-0736-9199 MEDDRA:10067628 Winged scapula Winged shoulder blade https://orcid.org/0000-0001-5208-3432 true HP:0003692 Muscular atrophy affecting muscles in the distal portions of the extremities. HP:0002484 HP:0002934 HP:0003486 HP:0003699 HP:0006786 HP:0006864 HP:0008937 HP:0008958 HP:0009015 HP:0009040 HP:0009065 UMLS:C1848736 Amyotrophy of distal limb muscles Distal amyotrophy, especially of the hands and feet Distal limb muscle atrophy Distal muscle atrophy Distal muscle atrophy, upper and lower limbs Distal muscle degeneration Distal muscle wasting Distal muscular atrophy Muscle atrophy, distal human_phenotype HP:0003693 Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). Distal amyotrophy HP:0003693 Muscular atrophy affecting muscles in the distal portions of the extremities. https://orcid.org/0000-0002-0736-9199 Distal muscle degeneration https://orcid.org/0000-0001-5208-3432 Distal muscle wasting Lack of strength of the proximal musculature occurring late in the clinical course. UMLS:C4025578 human_phenotype HP:0003694 Late-onset proximal muscle weakness HP:0003694 Lack of strength of the proximal musculature occurring late in the clinical course. https://orcid.org/0000-0002-0736-9199 true HP:0003695 Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. 2008-12-22T01:37:43Z UMLS:C4025577 Absent end part of the outermost bone of the little finger Absent end part of the outermost bone of the pinkie finger Absent end part of the outermost bone of the pinky finger human_phenotype HP:0003696 Absent epiphysis of the distal phalanx of the 5th finger HP:0003696 Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the outermost bone of the little finger https://orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. HP:0006920 HP:0008957 UMLS:C1842162 Scapuloperoneal atrophy human_phenotype HP:0003697 Scapuloperoneal amyotrophy HP:0003697 Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:249902000 UMLS:C0241237 Difficulty in standing Standing instability human_phenotype HP:0003698 Difficulty standing HP:0003698 Difficulty in standing true HP:0003699 Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. HP:0008977 HP:0008987 HP:0008996 HP:0009043 HP:0009052 HP:0009068 HP:0009074 UMLS:C1389113 Diffuse amyotrophy Diffuse muscle atrophy Diffuse muscle wasting Diffuse skeletal muscle wasting Generalised amyotrophy Generalised muscle atrophy Generalised muscle degeneration Generalized muscle atrophy Generalized muscle degeneration Muscle atrophy, diffuse Muscle atrophy, generalised Muscle atrophy, generalized Muscular atrophy, generalised Muscular atrophy, generalized human_phenotype HP:0003700 Generalized amyotrophy HP:0003700 Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. https://orcid.org/0000-0002-0736-9199 Diffuse skeletal muscle wasting Generalised amyotrophy Generalised muscle atrophy Generalised muscle degeneration Generalized muscle degeneration https://orcid.org/0000-0001-5208-3432 Muscle atrophy, generalised Muscle atrophy, generalized Muscular atrophy, generalised A lack of strength of the proximal muscles. HP:0003432 HP:0003475 HP:0007195 HP:0008950 HP:0008961 HP:0008975 HP:0009033 HP:0009075 SNOMEDCT_US:249939004 UMLS:C0221629 UMLS:C1838869 Muscle weakness, proximal Proximal limb muscle weakness Proximal limb weakness Weakness in muscles of upper arms and upper legs human_phenotype Proximal neurogenic muscle weakness HP:0003701 Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. Proximal muscle weakness HP:0003701 A lack of strength of the proximal muscles. https://orcid.org/0000-0002-0736-9199 Weakness in muscles of upper arms and upper legs https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Proximal neurogenic muscle weakness true HP:0003702 true HP:0003703 UMLS:C1842161 Neurogenic scapuloperoneal syndrome human_phenotype HP:0003704 Scapuloperoneal weakness HP:0003704 true HP:0003705 true HP:0003706 Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. UMLS:C1839666 Pseudohypertrophy of the calves human_phenotype HP:0003707 Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. Calf muscle pseudohypertrophy HP:0003707 Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. https://orcid.org/0000-0002-0736-9199 true HP:0003708 true HP:0003709 Sudden and involuntary contractions of one or more muscles brought on by physical exertion. HP:0008983 HP:0009000 UMLS:C1855578 Exercise-induced muscle cramping Exercise-induced muscle cramps Muscle cramps following exercise Muscle cramps on exercise Muscle cramps on exertion Muscle cramps with exertion human_phenotype HP:0003710 Exercise-induced muscle cramps HP:0003710 Sudden and involuntary contractions of one or more muscles brought on by physical exertion. https://orcid.org/0000-0002-0736-9199 Exercise-induced muscle cramping Exercise-induced muscle cramps Muscle cramps following exercise Muscle cramps on exercise Muscle cramps on exertion Muscle cramps with exertion true HP:0003711 Abnormal increase in muscle size and mass not due to training. HP:0009042 UMLS:C2265792 Hypertrophic muscles Increased skeletal muscle cells Muscle hypertrophy Muscular hypertrophy human_phenotype HP:0003712 Increased muscle bulk based on clinical observation. Myofiber hyperplasia and hypertrophy may contribute but this is not easily tested clinically. Skeletal muscle hypertrophy HP:0003712 Abnormal increase in muscle size and mass not due to training. https://orcid.org/0000-0002-0736-9199 Increased skeletal muscle cells https://orcid.org/0000-0001-5208-3432 Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. HP:0003726 UMLS:C1850848 Muscle fibre necrosis human_phenotype HP:0003713 Muscle fiber necrosis HP:0003713 Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. https://orcid.org/0000-0002-0736-9199 Muscle fibre necrosis true HP:0003714 Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. SNOMEDCT_US:699269005 UMLS:C2678065 Myofibrillar changes human_phenotype HP:0003715 This feature is demonstrated by muscle biopsy. Myofibrillar myopathy HP:0003715 Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. https://orcid.org/0000-0002-0736-9199 UMLS:C1837799 Generalised muscular appearance from birth human_phenotype HP:0003716 Generalized muscular appearance from birth HP:0003716 Generalised muscular appearance from birth UMLS:C1859442 Minimal fat below the skin human_phenotype HP:0003717 Minimal subcutaneous fat HP:0003717 Minimal fat below the skin https://orcid.org/0000-0001-5208-3432 true HP:0003718 Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds. UMLS:C1853702 human_phenotype HP:0003719 Transient swelling of muscle induced by percussion (e.g., tapping on muscle with a reflex hammer). Muscle mounding HP:0003719 Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds. PMID:20300641 Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution. UMLS:C3805639 Generalised increase in muscle cell size Generalised muscle hypertrophy Generalized increase in muscle cell size human_phenotype HP:0003720 Generalized muscle hypertrophy HP:0003720 Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution. https://orcid.org/0000-0002-0736-9199 Generalised increase in muscle cell size Generalised muscle hypertrophy Generalized increase in muscle cell size https://orcid.org/0000-0001-5208-3432 true HP:0003721 Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). HP:0000469 UMLS:C1843637 Neck flexion weakness Neck flexor muscle weakness human_phenotype HP:0003722 Neck flexor weakness HP:0003722 Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). https://orcid.org/0000-0002-0736-9199 Neck flexion weakness true HP:0003723 Amyotrophy affecting the muscles of the shoulder girdle. UMLS:C1847766 Shoulder girdle atrophy Shoulder girdle muscle wasting Shoulder-girdle muscle atrophy human_phenotype HP:0003724 Shoulder girdle muscle atrophy HP:0003724 Amyotrophy affecting the muscles of the shoulder girdle. https://orcid.org/0000-0002-0736-9199 Shoulder girdle muscle wasting Shoulder-girdle muscle atrophy A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement). UMLS:C1850656 human_phenotype HP:0003725 This finding has been described in Arthrogryposis, distal, type 5 and Glycogen storage disease II. Firm muscles HP:0003725 A state of increased firmness (i.e., a reduced tendency to yield to pressure) of skeletal muscle tissue. This finding is ascertained by palpation and is to be distinguished from increased muscle tone (abnormal elevation in the resting tension of a muscle, leading to stiffness and resistance to movement). PMID:15389706 PMID:19213027 true HP:0003726 true HP:0003727 true HP:0003728 UMLS:C3806660 human_phenotype HP:0003729 Enteroviral dermatomyositis syndrome HP:0003729 Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). UMLS:C4020837 UMLS:C4025576 human_phenotype EMG: spontaneous, repetitive electrical activity HP:0003730 This is a characteristic abnormality seen in the myotonias and periodic paralyzes. EMG: myotonic runs HP:0003730 Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). https://orcid.org/0000-0002-0736-9199 Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). SNOMEDCT_US:300948004 UMLS:C0577655 Quadriceps weakness human_phenotype HP:0003731 Quadriceps muscle weakness HP:0003731 Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). https://orcid.org/0000-0002-0736-9199 Quadriceps weakness true HP:0003732 Muscle hypertrophy affecting the thighs. UMLS:C1846674 Increased thigh size human_phenotype HP:0003733 Proximal lower limb hypertrophy Thigh hypertrophy HP:0003733 Muscle hypertrophy affecting the thighs. https://orcid.org/0000-0002-0736-9199 Increased thigh size https://orcid.org/0000-0001-5208-3432 true HP:0003734 true HP:0003735 The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. UMLS:C0544966 human_phenotype HP:0003736 Autophagic vacuoles HP:0003736 The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. PMID:17027858 https://orcid.org/0000-0002-0736-9199 A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. HP:0008960 SNOMEDCT_US:16851005 UMLS:C0162670 human_phenotype HP:0003737 This is a bundled term that should not be used for future annotations. Mitochondrial myopathy HP:0003737 A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. https://orcid.org/0000-0002-0736-9199 The occurrence of an unusually high amount of muscle pain following exercise. UMLS:C1850830 Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced human_phenotype HP:0003738 Exercise-induced myalgia HP:0003738 The occurrence of an unusually high amount of muscle pain following exercise. https://orcid.org/0000-0002-0736-9199 Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced HP:0006963 UMLS:C3806442 human_phenotype HP:0003739 Myoclonic spasms HP:0003739 Myotonia that occurs after a period of rest and decreases with continuing exercise. UMLS:C4025575 human_phenotype HP:0003740 Myotonia with warm-up phenomenon HP:0003740 Myotonia that occurs after a period of rest and decreases with continuing exercise. PMID:7678441 https://orcid.org/0000-0002-0736-9199 HP:0003560 human_phenotype HP:0003741 obsolete Congenital muscular dystrophy true HP:0003741 true HP:0003742 A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations. UMLS:C0600498 Autosomal dominant with genetic anticipation human_phenotype HP:0003743 This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. Genetic anticipation HP:0003743 A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations. https://orcid.org/0000-0002-0736-9199 A type of genetic anticipation observed predominantly upon transmission from affected males. UMLS:C1834002 UMLS:C4025574 human_phenotype Paternal anticipation bias HP:0003744 Genetic anticipation with paternal anticipation bias HP:0003744 A type of genetic anticipation observed predominantly upon transmission from affected males. https://orcid.org/0000-0002-0736-9199 Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. HP:0001420 HP:0003747 HP:0003769 UMLS:C1853237 Isolated cases No previous family history human_phenotype HP:0003745 Sporadic HP:0003745 Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. https://orcid.org/0000-0002-0736-9199 No previous family history https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0003746 true HP:0003747 true HP:0003748 Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. HP:0003692 HP:0008999 HP:0009036 SNOMEDCT_US:249941003 UMLS:C0427064 Hip girdle muscle weakness Hip girdle weakness Hip-girdle muscle weakness Pelvic girdle weakness human_phenotype HP:0003749 Pelvic girdle muscle weakness HP:0003749 Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. https://orcid.org/0000-0002-0736-9199 An abnormal, increased fatiguability of the musculature. SNOMEDCT_US:80449002 UMLS:C0242979 UMLS:C4025573 human_phenotype Muscle fatigue HP:0003750 Increased muscle fatiguability HP:0003750 An abnormal, increased fatiguability of the musculature. https://orcid.org/0000-0002-0736-9199 true HP:0003751 Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. UMLS:C4025572 human_phenotype HP:0003752 Episodic flaccid weakness HP:0003752 Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. https://orcid.org/0000-0002-0736-9199 true HP:0003753 true HP:0003754 The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. UMLS:C4025571 Type 1 fibres relatively smaller than type 2 fibres human_phenotype HP:0003755 This feature can only be observed on muscle biopsy. Type 1 fibers relatively smaller than type 2 fibers HP:0003755 The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. https://orcid.org/0000-0002-0736-9199 Type 1 fibres relatively smaller than type 2 fibres SNOMEDCT_US:75047002 UMLS:C1533847 human_phenotype HP:0003756 Skeletal myopathy HP:0003756 true HP:0003757 A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. HP:0001002 HP:0007409 SNOMEDCT_US:248316006 UMLS:C0424631 UMLS:C1857657 Decreased subcutaneous adipose tissue Decreased subcutaneous fat Reduced fat tissue below the skin Reduced subcutaneous fat Scanty adipose tissue human_phenotype HP:0003758 Reduced subcutaneous adipose tissue HP:0003758 Reduced fat tissue below the skin https://orcid.org/0000-0001-5208-3432 Congenital underdevelopment of lymph vessels. UMLS:C4025570 Underdeveloped lymphatic vessels human_phenotype HP:0003759 This feature can be demonstrated by lymphography. Hypoplasia of lymphatic vessels HP:0003759 Congenital underdevelopment of lymph vessels. https://orcid.org/0000-0002-0736-9199 Underdeveloped lymphatic vessels https://orcid.org/0000-0001-5208-3432 Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. UMLS:C4280804 human_phenotype HP:0003760 Percussion-induced rapid rolling muscle contractions HP:0003760 Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. https://orcid.org/0000-0002-0736-9199 Formation of calcium deposits in any soft tissue. SNOMEDCT_US:6595006 UMLS:C0006663 Calcium buildup in soft tissues of body human_phenotype HP:0003761 Calcinosis HP:0003761 Formation of calcium deposits in any soft tissue. https://orcid.org/0000-0002-0736-9199 Calcium buildup in soft tissues of body https://orcid.org/0000-0002-6548-5200 A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. SNOMEDCT_US:15545001 SNOMEDCT_US:22504001 UMLS:C0152240 UMLS:C0266393 Didelphic uteri Didelphic uterus Didelphyc uterus Doubling of uterus Duplex uterus Duplicated uterus Duplication of uterus Uterine didelphis Uterine didelphys Uterus didelphis Uterus didelphus Uterus duplex human_phenotype Double uterus HP:0003762 Uterus didelphys HP:0003762 A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. https://orcid.org/0000-0002-0736-9199 Double uterus Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. HP:5200284 SNOMEDCT_US:191983006 SNOMEDCT_US:90207007 UMLS:C0006325 Teeth grinding Grinding teeth during sleep human_phenotype HP:0003763 Rarely, bruxism can occur while the affected individual is awake, but this is less likely to result in the need for medical attention. Bruxism HP:0003763 Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. PMID:29926505 Teeth grinding https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. SNOMEDCT_US:21119008 SNOMEDCT_US:400096001 SNOMEDCT_US:51697005 UMLS:C0027960 UMLS:C0027962 Mole Naevus human_phenotype Naevi Nevi HP:0003764 The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. Nevus HP:0003764 A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. https://orcid.org/0000-0002-0736-9199 Mole https://orcid.org/0000-0001-6908-9849 A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). SNOMEDCT_US:9014002 UMLS:C0033860 Psoriasis human_phenotype HP:0003765 The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations). Psoriasiform dermatitis HP:0003765 A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). https://orcid.org/0000-0002-0736-9199 true HP:0003766 true HP:0003767 Episodes of muscle weakness. SNOMEDCT_US:198030008 UMLS:C1279412 Episodic paralysis human_phenotype HP:0003768 Periodic paralysis HP:0003768 Episodes of muscle weakness. https://orcid.org/0000-0002-0736-9199 true HP:0003769 true HP:0003770 Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. SNOMEDCT_US:57602001 UMLS:C1527284 UMLS:C4280259 UMLS:C4280546 Pulp calcifications Pulp denticles Pulp stones Pulpoliths False denticles False pulp stones True denticles True pulp stones human_phenotype HP:0003771 Pulp calcification HP:0003771 Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Pulp calcifications https://orcid.org/0000-0001-5889-4463 Pulp denticles https://orcid.org/0000-0001-5889-4463 Pulp stones False denticles https://orcid.org/0000-0001-5889-4463 False pulp stones https://orcid.org/0000-0001-5889-4463 True denticles https://orcid.org/0000-0001-5889-4463 True pulp stones https://orcid.org/0000-0001-5889-4463 true HP:0003772 true HP:0003773 A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. HP:0000101 HP:0004720 HP:0004725 HP:0004733 HP:0004738 HP:0005570 SNOMEDCT_US:433146000 UMLS:C2316810 Chronic renal failure End stage renal disease End stage renal failure End-stage renal disease End-stage renal failure Stage 5 chronic kidney disease human_phenotype Renal failure, endstage HP:0003774 Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. Stage 5 chronic kidney disease HP:0003774 A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. https://orcid.org/0000-0002-0736-9199 End-stage renal failure https://orcid.org/0000-0002-5316-1399 Stage 5 chronic kidney disease Renal failure, endstage https://orcid.org/0000-0002-5316-1399 true HP:0003775 true HP:0003776 Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. SNOMEDCT_US:17170005 UMLS:C0263491 Flattened and twisted hair human_phenotype HP:0003777 Pili torti HP:0003777 Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. https://orcid.org/0000-0002-0736-9199 Flattened and twisted hair https://orcid.org/0000-0001-5889-4463 HP:0005447 Decreased size of mandibular ramus UMLS:C1841648 UMLS:C4280545 Short body and ramus of mandible Short mandibular ramus Underdeveloped mandibular rami Decreased height of mandibular ramus human_phenotype HP:0003778 Short mandibular rami HP:0003778 Decreased size of mandibular ramus https://orcid.org/0000-0001-5889-4463 Decreased height of mandibular ramus https://orcid.org/0000-0001-5889-4463 UMLS:C1844509 Deep antegonial notch of mandible Large antegonial notch of mandible human_phenotype HP:0003779 Antegonial notching of mandible HP:0003779 Deep antegonial notch of mandible https://orcid.org/0000-0001-5889-4463 Large antegonial notch of mandible https://orcid.org/0000-0001-5889-4463 true HP:0003780 Excessive production of saliva. SNOMEDCT_US:275295002 SNOMEDCT_US:53827007 SNOMEDCT_US:62718007 UMLS:C0013132 UMLS:C0037036 Excessive production of saliva Excessive salivation Hypersalivation Mouth watering Oversalivation Ptyalism Watery mouth human_phenotype HP:0003781 Excessive salivation HP:0003781 Excessive production of saliva. https://orcid.org/0000-0002-0736-9199 Excessive salivation Mouth watering Oversalivation https://orcid.org/0000-0001-5889-4463 Watery mouth A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). UMLS:C4025569 human_phenotype HP:0003782 Eunuchoid habitus HP:0003782 A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). https://orcid.org/0000-0002-0736-9199 HP:0008796 human_phenotype HP:0003783 obsolete Externally rotated/abducted legs true HP:0003783 UMLS:C1970463 human_phenotype HP:0003784 Type 1 collagen overmodification HP:0003784 Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. UMLS:C4280803 human_phenotype HP:0003785 Decreased CSF homovanillic acid concentration HP:0003785 Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. HPO_CONTRIBUTOR:KI_phemming PMID:12615172 true HP:0003786 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. UMLS:C4025568 Type 1 and type 2 muscle fibre minicore regions human_phenotype HP:0003787 Type 1 and type 2 muscle fiber minicore regions HP:0003787 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. https://orcid.org/0000-0002-0736-9199 Type 1 and type 2 muscle fibre minicore regions true HP:0003788 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. HP:0003804 UMLS:C1850674 human_phenotype HP:0003789 Minicore myopathy HP:0003789 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. https://orcid.org/0000-0002-0736-9199 true HP:0003790 UMLS:C1853934 human_phenotype HP:0003791 Deposits immunoreactive to beta-amyloid protein HP:0003791 true HP:0003792 true HP:0003793 true HP:0003794 Developmental hypoplasia (shortening) of middle phalanx of toe. UMLS:C4021723 Short middle bones (feet) Short middle phalanges of toes human_phenotype HP:0003795 Short middle phalanx of toe HP:0003795 Developmental hypoplasia (shortening) of middle phalanx of toe. https://orcid.org/0000-0002-0736-9199 Short middle bones (feet) https://orcid.org/0000-0001-5208-3432 Irregularity of the iliac crest, which is the superior border of the wing of the ilium. UMLS:C1855180 human_phenotype HP:0003796 Irregular iliac crest HP:0003796 Irregularity of the iliac crest, which is the superior border of the wing of the ilium. https://orcid.org/0000-0002-0736-9199 Muscular atrophy affecting the muscles of the limb girdle. Limb-girdle myopathy UMLS:C1404521 UMLS:C1842552 Wasting of limb-girdle muscle human_phenotype HP:0003797 Limb-girdle muscle atrophy HP:0003797 Muscular atrophy affecting the muscles of the limb girdle. https://orcid.org/0000-0002-0736-9199 Wasting of limb-girdle muscle https://orcid.org/0000-0001-5208-3432 Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. UMLS:C3808039 Nemaline rods human_phenotype HP:0003798 This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23). Nemaline bodies HP:0003798 Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. PMID:11333380 https://orcid.org/0000-0002-0736-9199 HP:0005742 HP:0005843 UMLS:C1868549 Marked delay in bone age Marked retardation in skeletal maturation Markedly retarded bone age human_phenotype HP:0003799 Marked delay in bone age HP:0003799 Marked delay in bone age Markedly retarded bone age UMLS:C4025566 human_phenotype HP:0003800 Muscle abnormality related to mitochondrial dysfunction HP:0003800 true HP:0003801 true HP:0003802 An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). HP:0003721 HP:0003807 UMLS:C1854387 Type 1 muscle fibre predominance Type I muscle fiber predominance Type I muscle fibre predominance human_phenotype HP:0003803 This finding is demonstrated by muscle biopsy. Type 1 muscle fiber predominance HP:0003803 An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). https://orcid.org/0000-0002-0736-9199 Type 1 muscle fibre predominance Type I muscle fibre predominance true HP:0003804 Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. HP:0009029 UMLS:C1853932 Rimmed vacuoles on biopsy human_phenotype HP:0003805 Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. Rimmed vacuoles HP:0003805 Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. https://orcid.org/0000-0002-0736-9199 true HP:0003806 true HP:0003807 UMLS:C0852413 Abnormal muscle tone human_phenotype HP:0003808 Abnormal muscle tone HP:0003808 Abnormal muscle tone An abnormally reduced amount of adipose tissue in the thoracic cavity. UMLS:C1837797 human_phenotype HP:0003809 Reduced intrathoracic adipose tissue HP:0003809 HP:0003728 UMLS:C4025565 human_phenotype HP:0003810 Late-onset distal muscle weakness HP:0003810 Death within the first 28 days of life. HP:0003820 HP:0003824 SNOMEDCT_US:276506001 UMLS:C0410916 Neonatal lethal human_phenotype HP:0003811 Neonatal death HP:0003811 Death within the first 28 days of life. https://orcid.org/0000-0002-0736-9199 Neonatal lethal A variability of phenotypic features. HP:0003813 HP:0003815 HP:0003821 HP:0003822 UMLS:C1837514 UMLS:C1839039 UMLS:C1850667 UMLS:C1866210 Clinical heterogeneity Highly variable clinical phenotype Highly variable phenotype Highly variable phenotype and severity Highly variable phenotype, even within families Variable phenotype Variable phenotypic severity human_phenotype HP:0003812 This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. Phenotypic variability HP:0003812 A variability of phenotypic features. https://orcid.org/0000-0002-0736-9199 Clinical heterogeneity https://orcid.org/0000-0002-5316-1399 true HP:0003813 true HP:0003814 true HP:0003815 true HP:0003816 true HP:0003817 true HP:0003818 Death in during childhood, defined here as between the ages of 2 and 10 years. HP:0001432 HP:0004149 UMLS:C1843392 Death in childhood human_phenotype HP:0003819 previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal)) Death in childhood HP:0003819 Death in during childhood, defined here as between the ages of 2 and 10 years. https://orcid.org/0000-0002-0736-9199 Death in childhood true HP:0003820 true HP:0003821 true HP:0003822 true HP:0003823 true HP:0003824 true HP:0003825 Death of the fetus in utero after at least 22 weeks of gestation. HP:0001624 HP:0001625 SNOMEDCT_US:237364002 SNOMEDCT_US:276507005 UMLS:C0015927 UMLS:C0595939 Late fetal death Late foetal death Stillbirth Stillborn human_phenotype Fetal death Fetal demise Foetal death Foetal demise HP:0003826 The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. Stillbirth HP:0003826 Death of the fetus in utero after at least 22 weeks of gestation. https://orcid.org/0000-0002-0736-9199 Late foetal death Stillbirth Stillborn Fetal death Foetal death Foetal demise true HP:0003827 A variable severity of phenotypic features. HP:0003814 HP:0003825 UMLS:C1861403 UMLS:C1866862 Variable severity human_phenotype Highly variable severity HP:0003828 This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. Variable expressivity HP:0003828 A variable severity of phenotypic features. https://orcid.org/0000-0002-0736-9199 Highly variable severity https://orcid.org/0000-0002-5316-1399 Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. HP:0003830 UMLS:C1836598 Incomplete penetrance Reduced penetrance human_phenotype HP:0003829 For example, Van der Woude syndrome due to IRF6 causes cleft lip and/or palate with penetrance estimated at 80%, and C9orf72 causes frontotemporal dementia and/or amyotrophic lateral sclerosis with approximately 50% penetrance. Typified by incomplete penetrance HP:0003829 Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. https://orcid.org/0000-0002-0736-9199 true HP:0003830 Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject. UMLS:C1835978 Age dependent penetrance Age-dependent penetrance Typified by age-related penetrance human_phenotype HP:0003831 Typified by age-related disease onset HP:0003831 Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject. https://orcid.org/0000-0002-0736-9199 UMLS:C4025564 human_phenotype HP:0003832 Abnormality of the tibial plateaux HP:0003832 UMLS:C4025563 human_phenotype HP:0003833 Laterally deficient tibial plateaux HP:0003833 A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. SNOMEDCT_US:125615005 SNOMEDCT_US:417076003 UMLS:C0037005 Shoulder dislocation human_phenotype HP:0003834 Shoulder dislocation HP:0003834 A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. https://orcid.org/0000-0002-0736-9199 Shoulder dislocation A partial dislocation of the shoulder joint. SNOMEDCT_US:263051004 UMLS:C0434744 Partial shoulder dislocation human_phenotype HP:0003835 Shoulder subluxation HP:0003835 A partial dislocation of the shoulder joint. https://orcid.org/0000-0002-0736-9199 Partial shoulder dislocation https://orcid.org/0000-0001-5208-3432 UMLS:C4025562 human_phenotype HP:0003836 Stippled calcification of the shoulder HP:0003836 Formation of calcified tissue in the soft tissues surrounding the shoulder. UMLS:C4025561 human_phenotype Calcification of the soft-tissue around the shoulders HP:0003837 Soft-tissue ossification around the shoulders HP:0003837 Formation of calcified tissue in the soft tissues surrounding the shoulder. https://orcid.org/0000-0002-0736-9199 Calcification of the soft-tissue around the shoulders https://orcid.org/0000-0001-5208-3432 true HP:0003838 HP:0003845 UMLS:C4021722 Abnormal shape of end part of upper limb long bones Abnormality involving the epiphyses of the upper limbs Abnormality of upper limb epiphysis morphology Epihyseal plate abnormality of the upper limbs human_phenotype HP:0003839 Abnormal upper limb epiphysis morphology HP:0003839 Abnormal shape of end part of upper limb long bones https://orcid.org/0000-0001-5208-3432 A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. UMLS:C4025560 UMLS:C4280544 human_phenotype Delayed maturation of the end part of the upper limb bone HP:0003840 Delayed upper limb epiphyseal ossification HP:0003840 A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the end part of the upper limb bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025559 Fragmented end part of upper limb bones Fragmented epiphyses of the upper limbs human_phenotype HP:0003841 Fragmented upper limb epiphysis HP:0003841 Fragmented end part of upper limb bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025558 Irregular end part of upper limb bones human_phenotype HP:0003842 Irregular epiphyses of the upper limbs HP:0003842 Irregular end part of upper limb bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025557 Round end part of upper limb bones human_phenotype HP:0003843 Round epiphyses of the upper limbs HP:0003843 Round end part of upper limb bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025556 Small end part of upper limb bones human_phenotype HP:0003844 Small epiphyses of the upper limbs HP:0003844 Small end part of upper limb bones https://orcid.org/0000-0001-5208-3432 true HP:0003845 UMLS:C4020913 Broad epiphyseal plates of the upper limbs Broad growth plates of upper limbs human_phenotype HP:0003846 Wide epiphyseal plates of the upper limbs HP:0003846 Broad growth plates of upper limbs https://orcid.org/0000-0001-5208-3432 true HP:0003847 UMLS:C4025555 Cupped wide portion of the upper limb bone human_phenotype HP:0003848 Cupped metaphyses of the upper limbs HP:0003848 Cupped wide portion of the upper limb bone https://orcid.org/0000-0001-5208-3432 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. UMLS:C4021721 Flared metaphyses of the upper limbs Flared wide portion of the upper limb bone human_phenotype HP:0003849 Flared upper limb metaphysis HP:0003849 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm. https://orcid.org/0000-0002-0736-9199 Flared wide portion of the upper limb bone https://orcid.org/0000-0001-5208-3432 UMLS:C4021720 Irregular metaphyses of the upper limbs Irregular wide portion of upper limb bones human_phenotype HP:0003850 Upper-limb metaphyseal irregularity HP:0003850 Irregular wide portion of upper limb bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025554 human_phenotype HP:0003851 Lytic defects in metaphyses of the upper limbs HP:0003851 UMLS:C4025553 human_phenotype HP:0003852 Normal density transverse bands in metaphyses of the upper limbs HP:0003852 UMLS:C4025552 human_phenotype HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbs HP:0003853 UMLS:C4025551 Increased bone density in wide portion of the upper limb bones human_phenotype HP:0003854 Sclerosis of metaphyses of the upper limbs HP:0003854 Increased bone density in wide portion of the upper limb bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025550 Spurred wide portion of upper limb bone human_phenotype HP:0003855 Spurred metaphyses of the upper limbs HP:0003855 Spurred wide portion of upper limb bone https://orcid.org/0000-0001-5208-3432 Increased width (breadth) of metaphyses of the arms. UMLS:C4021719 Broad wide portion of upper limb bone Wide/broad metaphyses of the upper limbs human_phenotype HP:0003856 Upper limb metaphyseal widening HP:0003856 Increased width (breadth) of metaphyses of the arms. https://orcid.org/0000-0002-0736-9199 Broad wide portion of upper limb bone https://orcid.org/0000-0001-5208-3432 true HP:0003857 UMLS:C4025549 human_phenotype HP:0003858 Cortical diaphyseal irregularity of the upper limbs HP:0003858 UMLS:C4025548 human_phenotype HP:0003859 Cortical diaphyseal thickening of the upper limbs HP:0003859 An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4025547 Increased bone density in central part of long bone of upper limbs human_phenotype HP:0003860 Diaphyseal sclerosis of the upper limbs HP:0003860 An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in central part of long bone of upper limbs https://orcid.org/0000-0001-5208-3432 UMLS:C4021718 Broad shaft of long bone of the upper limbs Wide diaphyses of the upper limbs Wide shaft of long bone of the upper limbs human_phenotype HP:0003861 Broad diaphyses of the upper limbs HP:0003861 Broad shaft of long bone of the upper limbs https://orcid.org/0000-0001-5208-3432 Wide shaft of long bone of the upper limbs https://orcid.org/0000-0001-5208-3432 Missing humerus bone associated with congenital failure of development. UMLS:C2678399 Absent long bone in upper arm Aplasia of the humerus Aplastic humerus human_phenotype HP:0003862 Absent humerus HP:0003862 Missing humerus bone associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 Absent long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025546 Angulated long bone in upper arm human_phenotype HP:0003863 Angulated humerus HP:0003863 Angulated long bone in upper arm https://orcid.org/0000-0001-5208-3432 Clefting affecting the humerus. UMLS:C4025545 Notched long bone in upper arm human_phenotype HP:0003864 Bifid humerus HP:0003864 Clefting affecting the humerus. https://orcid.org/0000-0002-0736-9199 Notched long bone in upper arm https://orcid.org/0000-0001-5208-3432 A bending or abnormal curvature of the humerus. UMLS:C1859460 Bowed long bone in upper arm Bowing of the humerus Humeral bowing human_phenotype HP:0003865 Bowed humerus HP:0003865 A bending or abnormal curvature of the humerus. https://orcid.org/0000-0002-0736-9199 Bowed long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025544 human_phenotype HP:0003866 Coarse humeral trabeculae HP:0003866 UMLS:C4025543 human_phenotype HP:0003867 Humeral cortical irregularity HP:0003867 UMLS:C4025542 human_phenotype HP:0003868 Humeral cortical thickening HP:0003868 UMLS:C4025541 human_phenotype HP:0003869 Humeral cortical thinning HP:0003869 HP:0003873 UMLS:C4025540 Crumpled long bone in upper arm human_phenotype HP:0003870 Crumpled humerus HP:0003870 Crumpled long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025539 Deformed long bone in upper arm human_phenotype HP:0003871 Deformed humerus HP:0003871 Deformed long bone in upper arm https://orcid.org/0000-0001-5208-3432 Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. UMLS:C4025538 human_phenotype HP:0003872 Humeral exostoses HP:0003872 Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. https://orcid.org/0000-0002-0736-9199 true HP:0003873 UMLS:C4025537 human_phenotype HP:0003874 Humerus varus HP:0003874 Destruction of an area of humerus bone due to a disease process, such as cancer. UMLS:C4025536 Lytic defects of the humerus human_phenotype HP:0003875 Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone. Humeral lytic defects HP:0003875 UMLS:C4025535 human_phenotype HP:0003876 Osteoporotic humerus HP:0003876 UMLS:C4025534 Humeral oval transradiancy human_phenotype HP:0003877 Oval transradiancy of humerus HP:0003877 UMLS:C4025533 human_phenotype HP:0003878 Periosteal new bone of humerus HP:0003878 UMLS:C4025532 False joint (long bone in upper arm) human_phenotype HP:0003879 Humeral pseudarthrosis HP:0003879 False joint (long bone in upper arm) https://orcid.org/0000-0001-5208-3432 UMLS:C4021717 Humeral sclerotic foci human_phenotype HP:0003880 Sclerotic foci of the humerus HP:0003880 UMLS:C4021716 Increased bone density in long bone of upper arm Sclerosis of humerus human_phenotype HP:0003881 Humeral sclerosis HP:0003881 Increased bone density in long bone of upper arm https://orcid.org/0000-0001-5208-3432 Reduction in diameter of the humerus. UMLS:C4021851 Slender long bone of upper arm human_phenotype HP:0003882 Slender humerus HP:0003882 Reduction in diameter of the humerus. https://orcid.org/0000-0002-0736-9199 Slender long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025531 Tapered long bone of upper arm human_phenotype HP:0003883 Tapered humerus HP:0003883 Tapered long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025530 Triangular long bone of upper arm human_phenotype HP:0003884 Triangular humerus HP:0003884 Triangular long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025529 human_phenotype HP:0003885 Undermodeled humerus HP:0003885 UMLS:C4021715 Broad humerus Wide long bone of upper arm human_phenotype HP:0003886 Wide humerus HP:0003886 Wide long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025528 Abnormal head of long bone in upper arm Abnormality of the humeral heads human_phenotype HP:0003887 Abnormal humeral head morphology HP:0003887 Abnormal head of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C3808869 Flattended head of long bone in upper arm human_phenotype HP:0003888 Flattened humeral heads HP:0003888 Flattended head of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025527 Abnormality of the deltoid tuberosities human_phenotype HP:0003889 Abnormal deltoid tuberosity morphology HP:0003889 UMLS:C2674600 human_phenotype HP:0003890 Prominent deltoid tuberosities HP:0003890 An anomaly of the humeral epiphysis. UMLS:C4021714 Abnormality of end part of the long bone of the upper arm Abnormality of the humeral epiphyses Abnormality of the humeral epiphysis human_phenotype HP:0003891 Abnormal humeral epiphysis morphology HP:0003891 An anomaly of the humeral epiphysis. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of the long bone of the upper arm https://orcid.org/0000-0001-5208-3432 Lack of formation of bone in the epiphysis of the humerus. UMLS:C4021713 Absent maturation of end part of long bone in upper arm Absent ossification of the humeral epiphyses human_phenotype HP:0003892 Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. Absent humeral epiphyseal ossification HP:0003892 Lack of formation of bone in the epiphysis of the humerus. https://orcid.org/0000-0002-0736-9199 Absent maturation of end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 Ossification of the humeral epiphysis at an earlier age than normal. UMLS:C4020836 UMLS:C4025526 Accelerated maturation of end part of long bone in upper arm human_phenotype Advanced maturation of the humeral epiphyses HP:0003893 Advanced ossification of the humeral epiphysis HP:0003893 Ossification of the humeral epiphysis at an earlier age than normal. https://orcid.org/0000-0002-0736-9199 Accelerated maturation of end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 A delay in the process of formation and maturation of the humeral epiphysis. UMLS:C4021712 UMLS:C4280543 Delayed maturation/delayed ossification of the humeral epiphyses human_phenotype Delayed maturation of the end part of the long bone in upper arm HP:0003894 Delayed humeral epiphyseal ossification HP:0003894 A delay in the process of formation and maturation of the humeral epiphysis. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the end part of the long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025525 Flattened end part of long bone in upper arm human_phenotype HP:0003895 Flattened humeral epiphyses HP:0003895 Flattened end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025524 Irregular end part of long bone in upper arm human_phenotype HP:0003896 Irregular humeral epiphyses HP:0003896 Irregular end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025523 UMLS:C4280542 human_phenotype Irregular maturation of the end part of the long bone in upper arm HP:0003897 Irregular ossification of the humeral epiphyses HP:0003897 Irregular maturation of the end part of the long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025522 Large end part of long bone in upper arm human_phenotype HP:0003898 Large humeral epiphyses HP:0003898 Large end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025521 Round end part of long bone in upper arm human_phenotype HP:0003899 Round humeral epiphyses HP:0003899 Round end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025520 Small end part of long bone in upper arm human_phenotype HP:0003900 Small humeral epiphyses HP:0003900 Small end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025519 human_phenotype HP:0003901 Stippled calcification of the humeral epiphyses HP:0003901 The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. UMLS:C4021711 Stippled ossification of the humeral epiphyses human_phenotype HP:0003902 Epiphyseal stippling of the humerus HP:0003902 The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. https://orcid.org/0000-0002-0736-9199 Increased width of the humeral epiphysis. UMLS:C4021710 Wide end part of long bone in upper arm Wide humeral epiphyses human_phenotype HP:0003903 Broad humeral epiphyses HP:0003903 Increased width of the humeral epiphysis. https://orcid.org/0000-0002-0736-9199 Wide end part of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4021709 Broad epiphyses of the upper limbs Wide end part of upper limb bones human_phenotype HP:0003904 Wide epiphyses of the upper limbs HP:0003904 Wide end part of upper limb bones https://orcid.org/0000-0001-5208-3432 Abnormality of arm long bone growth plate UMLS:C4025518 UMLS:C4280541 human_phenotype HP:0003905 Abnormality of the humeral epiphyseal plate HP:0003905 Abnormality of arm long bone growth plate https://orcid.org/0000-0001-5208-3432 Increased width of the humeral epiphyseal growth plate. Wide long bone of arm growth plate UMLS:C4021708 UMLS:C4280540 Wide humeral epiphyseal plate human_phenotype HP:0003906 Broad humeral epiphyseal plate HP:0003906 Increased width of the humeral epiphyseal growth plate. https://orcid.org/0000-0002-0736-9199 Wide long bone of arm growth plate https://orcid.org/0000-0001-5208-3432 UMLS:C4025517 Abnormality of the humeral metaphyses Abnormality of the wide portion of the long bone in upper arm human_phenotype HP:0003907 Abnormal humeral metaphysis morphology HP:0003907 Abnormality of the wide portion of the long bone in upper arm https://orcid.org/0000-0001-5208-3432 Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. UMLS:C4025516 Bucket handle fracture Metaphyseal corner fracture human_phenotype HP:0003908 A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure. Corner fracture of metaphysis HP:0003908 Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. PMID:15206413 PMID:20544318 UMLS:C4025515 human_phenotype HP:0003909 Cortical subperiosteal resorption of humeral metaphyses HP:0003909 UMLS:C4021707 Enlarged wide portion of long bone of upper arm Expanded humeral metaphyses human_phenotype HP:0003910 Enlarged humeral metaphyses HP:0003910 Enlarged wide portion of long bone of upper arm https://orcid.org/0000-0001-5208-3432 Flaring (increase of width with a splayed appearance) of the humeral metaphysis. HP:0003925 UMLS:C4020835 UMLS:C4020912 Flared wide portion of long bone of upper arm Wide/broad humeral metaphysis human_phenotype Flared humerus HP:0003911 Flared humeral metaphysis HP:0003911 Flaring (increase of width with a splayed appearance) of the humeral metaphysis. https://orcid.org/0000-0002-0736-9199 Flared wide portion of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025514 human_phenotype HP:0003912 Frayed humeral metaphyses HP:0003912 UMLS:C4021706 Irregular humeral metaphyses Irregular wide portion of long bone in upper arm human_phenotype HP:0003913 Humeral metaphyseal irregularity HP:0003913 Irregular wide portion of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025513 Irregular bone maturation of the wide portion of the long bone in upper arm human_phenotype HP:0003914 Irregular ossification of humeral metaphyses HP:0003914 Irregular bone maturation of the wide portion of the long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025512 human_phenotype HP:0003915 Lytic defects of the humeral metaphysis HP:0003915 UMLS:C4025511 human_phenotype HP:0003916 Normal-density transverse bands of the humerus Normal-density transverse humeral bands HP:0003916 UMLS:C4025510 Pointed wide portion of long bone of upper arm human_phenotype HP:0003917 Pointed humeral metaphysis HP:0003917 Pointed wide portion of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025509 Hardening of wide portion of long bone of upper arm Stiffening of wide portion of long bone of upper arm human_phenotype HP:0003918 Sclerotic humeral metaphysis HP:0003918 Hardening of wide portion of long bone of upper arm https://orcid.org/0000-0001-5208-3432 Stiffening of wide portion of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025508 human_phenotype HP:0003919 Sclerotic humeral metaphysis with longitudinal striations HP:0003919 UMLS:C4025507 Sloping metaphysis of long bone of upper arm human_phenotype HP:0003920 Sloping humeral metaphysis HP:0003920 Sloping metaphysis of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025506 Laterally sloping metaphysis of long bone of upper arm human_phenotype HP:0003921 Laterally sloping humeral metaphysis HP:0003921 Laterally sloping metaphysis of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025505 Spurred metaphysis of long bone of upper arm human_phenotype HP:0003922 Spurred humeral metaphysis HP:0003922 Spurred metaphysis of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025504 Square metaphysis of long bone of upper arm human_phenotype HP:0003923 Square humeral metaphysis HP:0003923 Square metaphysis of long bone of upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025503 Speckled calcification in metaphysis of long bone of upper arm human_phenotype HP:0003924 Stippled calcification of humeral metaphysis HP:0003924 Speckled calcification in metaphysis of long bone of upper arm https://orcid.org/0000-0001-5208-3432 true HP:0003925 An anomaly of the humeral diaphysis. UMLS:C4025502 Abnormality of shaft of long bone in upper arm Abnormality of the humeral diaphysis human_phenotype HP:0003926 Abnormal humeral diaphysis morphology HP:0003926 An anomaly of the humeral diaphysis. https://orcid.org/0000-0002-0736-9199 Abnormality of shaft of long bone in upper arm https://orcid.org/0000-0001-5208-3432 An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. UMLS:C4025501 human_phenotype HP:0003927 Cortical irregularity of humeral diaphysis HP:0003927 An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus. https://orcid.org/0000-0002-0736-9199 UMLS:C4025500 human_phenotype HP:0003928 Cortical thickening of humeral diaphysis HP:0003928 UMLS:C4025499 human_phenotype HP:0003929 Ground glass opacity of humeral diaphysis HP:0003929 UMLS:C4021705 Humeral diaphyseal lysis human_phenotype HP:0003930 Lytic defects of humeral diaphysis HP:0003930 UMLS:C4025498 human_phenotype HP:0003931 Periosteal new bone of humeral diaphysis HP:0003931 UMLS:C4025497 human_phenotype HP:0003932 Sclerotic foci of humeral diaphysis HP:0003932 UMLS:C4025496 Increased bone density in shaft of long bone in upper arm human_phenotype HP:0003933 Sclerosis of humeral diaphysis HP:0003933 Increased bone density in shaft of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025495 Slender shaft of long bone in upper arm human_phenotype HP:0003934 Slender humeral diaphysis HP:0003934 Slender shaft of long bone in upper arm https://orcid.org/0000-0001-5208-3432 Increased width of the humeral diaphysis. UMLS:C4021704 Broad humeral diaphysis Broad shaft of long bone in upper arm Wide shaft of long bone in upper arm human_phenotype HP:0003935 Wide humeral diaphysis HP:0003935 Increased width of the humeral diaphysis. https://orcid.org/0000-0002-0736-9199 Broad shaft of long bone in upper arm https://orcid.org/0000-0001-5208-3432 Wide shaft of long bone in upper arm https://orcid.org/0000-0001-5208-3432 true HP:0003936 true HP:0003937 UMLS:C4025494 Bone fusion involving the elbow human_phenotype HP:0003938 Synostosis involving the elbow HP:0003938 Bone fusion involving the elbow https://orcid.org/0000-0001-5208-3432 An abnormal osseous union (fusion) between the ulna and the humerus. SNOMEDCT_US:205330003 UMLS:C0431799 Humeral ulnar synostosis human_phenotype HP:0003939 Humeroulnar synostosis HP:0003939 An abnormal osseous union (fusion) between the ulna and the humerus. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:239866002 UMLS:C0409954 human_phenotype HP:0003940 Osteoarthritis of the elbow HP:0003940 UMLS:C4025493 human_phenotype HP:0003941 Stippled calcification of the elbow HP:0003941 UMLS:C4025492 human_phenotype HP:0003942 Synovial chondromatosis of the elbow HP:0003942 UMLS:C4025491 Abnormality of the joint spaces of the elbow human_phenotype HP:0003943 Abnormality of the joint spaces of the elbow HP:0003943 Abnormality of the joint spaces of the elbow UMLS:C4025490 Narrow joint spaces of the elbow human_phenotype HP:0003944 Narrow joint spaces of the elbow HP:0003944 Narrow joint spaces of the elbow UMLS:C4025489 human_phenotype HP:0003945 Irregular articular surfaces of the elbow joints HP:0003945 UMLS:C4025488 Abnormality of end part of the elbow bone Abnormality of the epiphyses of the elbow human_phenotype HP:0003946 Abnormal elbow epiphysis morphology HP:0003946 Abnormality of end part of the elbow bone https://orcid.org/0000-0001-5208-3432 A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. UMLS:C4025487 Delayed maturation of the end part of the elbow bone human_phenotype HP:0003947 Delayed elbow epiphyseal ossification HP:0003947 A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the end part of the elbow bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025486 Irregular end part of the elbow bone human_phenotype HP:0003948 Irregular epiphyses of the elbow HP:0003948 Irregular end part of the elbow bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025485 Abnormal wide portion of elbow bone human_phenotype HP:0003949 Abnormal elbow metaphysis morphology HP:0003949 Abnormal wide portion of elbow bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025484 Flared wide portion of elbow bone human_phenotype HP:0003950 Flared elbow metaphyses HP:0003950 Flared wide portion of elbow bone Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). UMLS:C4021703 Irregular metaphyses of elbow Irregular wide portion of elbow bone human_phenotype HP:0003951 Distal humeral metaphyseal irregularity HP:0003951 Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). https://orcid.org/0000-0002-0736-9199 Irregular wide portion of elbow bone https://orcid.org/0000-0001-5208-3432 UMLS:C4021702 Vertical linear mixed lucent and sclerotic pattern of metaphyses human_phenotype HP:0003952 Sclerotic foci of metaphyses of the elbow HP:0003952 Absence of one or more forearm bones associated with congenital failure of development. HP:0009822 UMLS:C4021701 Absent forearm bone Absent forearm bones Aplasia involving forearm bones Aplasia of the forearm bones human_phenotype HP:0003953 Absent forearm bone HP:0003953 Absence of one or more forearm bones associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 Absent forearm bone Absent forearm bones UMLS:C4025483 Angulated forearm bones human_phenotype HP:0003954 Angulated forearm bones HP:0003954 Angulated forearm bones A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. UMLS:C4025482 Bone-in-a-bone appearance of forearm human_phenotype HP:0003955 Bone-in-a-bone appearance of forearm HP:0003955 A descriptive term for a forearm bone that appears to have an additional bone within it on radiography. https://orcid.org/0000-0002-0736-9199 Bone-in-a-bone appearance of forearm A bending or abnormal curvature affecting either the radius, the ulna, or both. UMLS:C4025481 Bowed forearm bones human_phenotype HP:0003956 Bowed forearm bones HP:0003956 A bending or abnormal curvature affecting either the radius, the ulna, or both. https://orcid.org/0000-0002-0736-9199 Bowed forearm bones UMLS:C4021842 human_phenotype HP:0003957 Cortical thickening of the forearm bones HP:0003957 UMLS:C4025480 human_phenotype HP:0003958 Cross-fusion of the forearm bones HP:0003958 UMLS:C4025479 Deformed forearm bones human_phenotype HP:0003959 Deformed forearm bones HP:0003959 Deformed forearm bones UMLS:C4025478 human_phenotype HP:0003960 Exostoses of the forearm bones HP:0003960 Bone fracture in the radius, ulna, or wrist. UMLS:C4025477 Broken forearm Fracture of the forearm Fractured forearm bones human_phenotype HP:0003961 Fractured forearm bone HP:0003961 Fractured forearm bones true HP:0003962 UMLS:C4025476 human_phenotype HP:0003963 Lytic defects of the forearm bones HP:0003963 UMLS:C4025475 human_phenotype HP:0003964 Osteoporotic forearm bones HP:0003964 UMLS:C4025474 human_phenotype HP:0003965 Pseudarthrosis of the forearm bones HP:0003965 UMLS:C4025473 human_phenotype HP:0003966 Sclerotic foci in forearm bones HP:0003966 UMLS:C4025472 Increased bone density of forearm bones human_phenotype HP:0003967 Sclerotic forearm bones HP:0003967 Increased bone density of forearm bones https://orcid.org/0000-0001-5208-3432 true HP:0003968 UMLS:C4025471 human_phenotype HP:0003969 Slender forearm bones HP:0003969 UMLS:C4025470 human_phenotype HP:0003970 Undermodelled forearm bones HP:0003970 Abnormally wide bone of the skeleton of forearm. UMLS:C4021700 Broad forearm bones Wide forearm bones human_phenotype HP:0003971 Broad forearm bones HP:0003971 Abnormally wide bone of the skeleton of forearm. https://orcid.org/0000-0002-0736-9199 Broad forearm bones Wide forearm bones true HP:0003972 UMLS:C4021699 Broad radioulnar joints human_phenotype HP:0003973 Wide radioulnar joints HP:0003973 Missing radius bone associated with congenital failure of development. HP:0002819 HP:0005012 UMLS:C1405984 UMLS:C1838608 UMLS:C1849314 Absent ossification/absence of radius Aplasia of the radius Missing outer large bone of forearm Radial aplasia absence of radius and ulna human_phenotype HP:0003974 Absent radius HP:0003974 Missing radius bone associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 Missing outer large bone of forearm https://orcid.org/0000-0002-6548-5200 HP:0004000 human_phenotype HP:0003975 obsolete Chevron-shaped/cone-shaped radius true HP:0003975 UMLS:C4025468 human_phenotype HP:0003976 Constricted radius HP:0003976 HP:0005046 UMLS:C4025467 human_phenotype HP:0003977 Deformed radius HP:0003977 SNOMEDCT_US:12676007 UMLS:C0034628 human_phenotype HP:0003978 Fractured radius HP:0003978 UMLS:C4021841 human_phenotype HP:0003979 Lytic defects of the radius HP:0003979 UMLS:C4025466 human_phenotype HP:0003980 Pseudarthrosis of the radius HP:0003980 Increased width of the radius. UMLS:C4021698 Wide radius human_phenotype HP:0003981 Broad radius HP:0003981 Increased width of the radius. https://orcid.org/0000-0002-0736-9199 Missing ulna bone associated with congenital failure of development. UMLS:C2678397 Absent ossification/absent ulna Absent ulna human_phenotype Absent ulnae HP:0003982 Aplasia of the ulna HP:0003982 Missing ulna bone associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 Absent ulnae https://orcid.org/0000-0002-5316-1399 true HP:0003983 UMLS:C4025465 human_phenotype HP:0003984 Posteriorly dislocated ulna HP:0003984 UMLS:C4025464 human_phenotype HP:0003985 Exostoses of the ulna HP:0003985 UMLS:C4025463 human_phenotype HP:0003986 Exostoses of the radius HP:0003986 SNOMEDCT_US:54556006 UMLS:C0041601 human_phenotype HP:0003987 Fractured ulna HP:0003987 Increased length of the ulna. HP:0006435 UMLS:C1848108 Disproportionately long ulnae human_phenotype HP:0003988 Long ulna HP:0003988 Increased length of the ulna. https://orcid.org/0000-0002-0736-9199 UMLS:C4025462 human_phenotype HP:0003989 Notched ulna HP:0003989 UMLS:C4025461 human_phenotype HP:0003990 Pointed ulna HP:0003990 Osteosclerosis (increased density related to increased bone mass) of the ulna. UMLS:C4021697 Sclerotic ulna human_phenotype HP:0003991 Osteosclerosis of the ulna HP:0003991 Osteosclerosis (increased density related to increased bone mass) of the ulna. https://orcid.org/0000-0002-0736-9199 Reduction in diameter of the ulna. UMLS:C1968814 human_phenotype HP:0003992 Slender ulna HP:0003992 Reduction in diameter of the ulna. https://orcid.org/0000-0002-0736-9199 Increased width of the ulna. HP:0200081 UMLS:C4020692 UMLS:C4025460 human_phenotype Wide ulna HP:0003993 Broad ulna HP:0003993 Increased width of the ulna. https://orcid.org/0000-0002-0736-9199 An injury of the wrist with displacement of any of the eight carpal bones. HP:0004992 MEDDRA:10013184 SNOMEDCT_US:125618007 UMLS:C0159941 Dislocated wrist Dislocations of the wrists human_phenotype HP:0003994 Dislocated wrist HP:0003994 An injury of the wrist with displacement of any of the eight carpal bones. https://orcid.org/0000-0002-0736-9199 MEDDRA:10013184 Dislocation of wrist Dislocated wrist Dislocations of the wrists UMLS:C4021696 Deformity of radial heads human_phenotype HP:0003995 Abnormality of the radial head HP:0003995 UMLS:C4025459 human_phenotype HP:0003996 Flattened radial head HP:0003996 UMLS:C4021695 Small radial head human_phenotype HP:0003997 Hypoplastic radial head HP:0003997 UMLS:C4025458 human_phenotype HP:0003998 Constricted radial neck HP:0003998 HP:0004011 UMLS:C4021694 Abnormality of radial epiphyseal plates Abnormality of radial epiphyses human_phenotype HP:0003999 Abnormal radial epiphysis morphology HP:0003999 The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. HP:0003975 UMLS:C4025457 Chevron-shaped distal radial epiphysis human_phenotype HP:0004000 The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous. Cone-shaped distal radial epiphysis HP:0004000 UMLS:C4025456 human_phenotype HP:0004001 Medially deficient radial epiphyses HP:0004001 UMLS:C4025455 human_phenotype HP:0004002 Flattened radial epiphyses HP:0004002 UMLS:C4025454 human_phenotype HP:0004003 Medially flattened radial epiphyses HP:0004003 UMLS:C4025453 human_phenotype HP:0004004 Irregular radial epiphyses HP:0004004 UMLS:C4025452 human_phenotype HP:0004005 Large radial epiphyses HP:0004005 UMLS:C4025451 human_phenotype HP:0004006 Round radial epiphyses HP:0004006 UMLS:C4025450 human_phenotype HP:0004007 Sclerotic radial epiphyses HP:0004007 UMLS:C4025449 human_phenotype HP:0004008 Sloping radial epiphyses HP:0004008 UMLS:C4025448 human_phenotype HP:0004009 Medially sloping radial epiphyses HP:0004009 UMLS:C4025447 human_phenotype HP:0004010 Small radial epiphyses HP:0004010 true HP:0004011 A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. UMLS:C4025446 human_phenotype HP:0004012 The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). Premature fusion of the radial epiphyseal plates HP:0004012 A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone. https://orcid.org/0009-0006-4530-3154 UMLS:C4025445 human_phenotype HP:0004013 Medially fused radial epiphyseal plates HP:0004013 Abnormal increase in width of the epiphyseal growth plate of the radius. UMLS:C4021693 Wide radial epiphyseal plates human_phenotype HP:0004014 Broad radial epiphyseal plate HP:0004014 Abnormal increase in width of the epiphyseal growth plate of the radius. https://orcid.org/0000-0002-0736-9199 UMLS:C4025444 Abnormality of radial metaphyses human_phenotype HP:0004015 Abnormal radial metaphysis morphology HP:0004015 UMLS:C4025443 human_phenotype HP:0004016 Cupped radial metaphyses HP:0004016 UMLS:C4025442 human_phenotype HP:0004017 Exostoses of the radial metaphysis HP:0004017 The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. UMLS:C4025441 human_phenotype Broadening of the distal radius HP:0004018 Flared radial metaphysis HP:0004018 The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. https://orcid.org/0000-0002-0736-9199 Irregularity of the normally smooth surface of the metaphysis of the radius. UMLS:C4021692 Irregular radial metaphysis human_phenotype HP:0004019 Radial metaphyseal irregularity HP:0004019 Irregularity of the normally smooth surface of the metaphysis of the radius. https://orcid.org/0000-0002-0736-9199 UMLS:C4025440 human_phenotype HP:0004020 Irregular ossification of the radial metaphysis HP:0004020 UMLS:C4025439 human_phenotype HP:0004021 Lytic defects of radial metaphysis HP:0004021 UMLS:C4025438 human_phenotype HP:0004022 Sclerotic radial metaphysis with longitudinal striations HP:0004022 UMLS:C4025437 human_phenotype HP:0004023 Sloping radial metaphysis HP:0004023 UMLS:C4025436 human_phenotype HP:0004024 Medially sloping radial metaphysis HP:0004024 UMLS:C4025435 human_phenotype HP:0004025 Spurred radial metaphysis HP:0004025 Increase in width (breadth) of the radial metaphysis. UMLS:C4021691 Wide radial metaphysis human_phenotype HP:0004026 Broad radial metaphysis HP:0004026 Increase in width (breadth) of the radial metaphysis. https://orcid.org/0000-0002-0736-9199 An anomaly of the radial diaphysis. UMLS:C4025434 human_phenotype HP:0004027 Abnormality of radial diaphysis HP:0004027 An anomaly of the radial diaphysis. https://orcid.org/0000-0002-0736-9199 UMLS:C4025433 human_phenotype HP:0004028 Spurs of radial diaphysis HP:0004028 UMLS:C4025432 human_phenotype HP:0004029 Lytic defects of radial diaphysis HP:0004029 UMLS:C4025431 human_phenotype HP:0004030 Patchy sclerosis of radial diaphysis HP:0004030 Increase in width of the diaphysis of radius. UMLS:C4021690 Wide radial diaphysis human_phenotype HP:0004031 Increased diameter of the shaft (diaphysis) of the radius. Broad radial diaphysis HP:0004031 Increase in width of the diaphysis of radius. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the olecranon, a bony eminence of the proximal ulna. UMLS:C4025430 Abnormality of the olecranon human_phenotype HP:0004032 Abnormal olecranon morphology HP:0004032 UMLS:C4025429 human_phenotype HP:0004033 Curved olecranon HP:0004033 UMLS:C4025428 human_phenotype HP:0004034 Irregular olecranon HP:0004034 UMLS:C4025427 Abnormality of the styloid process of ulna human_phenotype HP:0004035 Abnormal ulnar styloid process morphology HP:0004035 UMLS:C4025426 human_phenotype HP:0004036 Long styloid process of ulna HP:0004036 UMLS:C4021689 Abnormality of the epiphyseal plate of the ulna Abnormality of the ulnar epiphyses human_phenotype HP:0004037 Abnormal ulnar epiphysis morphology HP:0004037 HP:0004037 human_phenotype HP:0004038 obsoleted on July 11, 2019. obsolete Bony spicule of ulnar epiphyseal plate true HP:0004038 Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis. UMLS:C4025424 Abnormality of ulnar metaphysis human_phenotype HP:0004039 Abnormal ulnar metaphysis morphology HP:0004039 UMLS:C4025423 human_phenotype HP:0004040 Corner fragments of ulnar metaphysis HP:0004040 UMLS:C4025422 human_phenotype HP:0004041 Cupped ulnar metaphysis HP:0004041 Irregularity of the normally smooth surface of the metaphysis of the ulna. UMLS:C4021688 Irregular ulnar metaphysis human_phenotype HP:0004042 Ulnar metaphyseal irregularity HP:0004042 Irregularity of the normally smooth surface of the metaphysis of the ulna. https://orcid.org/0000-0002-0736-9199 UMLS:C4025421 human_phenotype HP:0004043 Lytic defects of ulnar metaphysis HP:0004043 UMLS:C4025420 human_phenotype HP:0004044 Pointed ulnar metaphysis HP:0004044 A sloped configuration of the metaphysis (shaft) of the ulna. UMLS:C4025419 human_phenotype HP:0004045 Sloping ulnar metaphysis HP:0004045 A sloped configuration of the metaphysis (shaft) of the ulna. https://orcid.org/0000-0002-0736-9199 UMLS:C4025418 human_phenotype HP:0004046 Spurred ulnar metaphysis HP:0004046 Increase in width (breadth) of the ulnar metaphysis. UMLS:C4021687 Broad ulnar metaphysis human_phenotype HP:0004047 Wide ulnar metaphysis HP:0004047 Increase in width (breadth) of the ulnar metaphysis. https://orcid.org/0000-0002-0736-9199 UMLS:C4025417 human_phenotype HP:0004048 Narrow joint spaces of wrist HP:0004048 UMLS:C4025416 human_phenotype HP:0004049 Decreased carpal angles of wrist HP:0004049 The total absence of the hand, with no bony elements distal to the radius or ulna. SNOMEDCT_US:371199008 UMLS:C0265594 Absent hand Acheiria human_phenotype HP:0004050 Absent hand HP:0004050 The total absence of the hand, with no bony elements distal to the radius or ulna. PMID:19125433 Absent hand Ossification of hand bones at an earlier age than normal. UMLS:C4020834 human_phenotype Accelerated maturation of hand bones Advanced maturation of the hand bones HP:0004051 Advanced ossification of the hand bones HP:0004051 Ossification of hand bones at an earlier age than normal. https://orcid.org/0000-0002-0736-9199 Accelerated maturation of hand bones https://orcid.org/0000-0001-5208-3432 Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. UMLS:C4020833 UMLS:C4021686 Delay maturation/delayed ossification of the hand human_phenotype Delayed maturation of the hand bones HP:0004052 Delayed ossification of the hand bones HP:0004052 Ossification of hand bones is less advanced than would be expected according to age-adjusted norms. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the hand bones Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. HP:0006204 UMLS:C4021685 Disharmonic maturation of the hand bones Dysharmonic ossification of the hand bones human_phenotype HP:0004053 Dysharmonic maturation of the hand bones HP:0004053 Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand. https://orcid.org/0000-0002-0736-9199 Osteosclerosis affecting one or more bones of the hand. HP:0004055 UMLS:C4021684 Generalised sclerosis of hand bones Generalized sclerosis of hand bones Hand bone sclerosis Increased bone density in hand bone Increased bone density in hand bones human_phenotype HP:0004054 Sclerosis of hand bone HP:0004054 Osteosclerosis affecting one or more bones of the hand. https://orcid.org/0000-0002-0736-9199 Generalised sclerosis of hand bones Increased bone density in hand bone https://orcid.org/0000-0001-5208-3432 true HP:0004055 true HP:0004056 Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. UMLS:C1969236 Pseudosyndactyly human_phenotype HP:0004057 Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. Mitten deformity HP:0004057 Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity. PMID:20301304 https://orcid.org/0000-0002-0736-9199 UMLS:C4025415 human_phenotype HP:0004058 Hand monodactyly HP:0004058 HP:0006433 human_phenotype HP:0004059 obsolete radial ray deficiency true HP:0004059 A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. SNOMEDCT_US:249755001 UMLS:C0426874 trident abnormality trident deformity human_phenotype HP:0004060 This abnormality is often seen in patients with achondroplasia. Trident hand HP:0004060 A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. https://orcid.org/0000-0002-0736-9199 true HP:0004061 true HP:0004062 true HP:0004063 true HP:0004064 true HP:0004065 HP:0009602 human_phenotype HP:0004066 obsolete Laterally deviated thumb phalanges true HP:0004066 true HP:0004067 true HP:0004068 true HP:0004069 true HP:0004070 true HP:0004071 true HP:0004072 true HP:0004073 true HP:0004074 true HP:0004075 true HP:0004076 true HP:0004077 true HP:0004078 true HP:0004079 true HP:0004080 true HP:0004081 true HP:0004082 HP:0005895 human_phenotype HP:0004083 obsolete Laterally deviated terminal thumb phalanx true HP:0004083 true HP:0004084 true HP:0004085 true HP:0004086 true HP:0004087 true HP:0004088 true HP:0004089 HP:0009662 human_phenotype HP:0004090 obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis true HP:0004090 true HP:0004091 true HP:0004092 true HP:0004093 true HP:0004094 UMLS:C4025413 Curved fingers human_phenotype HP:0004095 Curved fingers HP:0004095 Curved fingers true HP:0004096 Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. HP:0006229 SNOMEDCT_US:203556007 SNOMEDCT_US:26517000 UMLS:C0410740 Atypical position of finger Deviated fingers Finger pointing in a different direction than usual human_phenotype HP:0004097 Deviation of finger HP:0004097 Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. https://orcid.org/0000-0002-0736-9199 Atypical position of finger https://orcid.org/0000-0002-6548-5200 Finger pointing in a different direction than usual true HP:0004098 Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. MEDDRA:10025386 SNOMEDCT_US:48449000 UMLS:C0265552 Finger overgrowth Megalodactyly human_phenotype HP:0004099 There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. Macrodactyly HP:0004099 Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. PMID:19125433 MEDDRA:10025386 Macrodactyly Finger overgrowth https://orcid.org/0009-0006-4530-3154 An anomaly of the second finger, also known as the index finger. UMLS:C4021683 Abnormality of index finger Abnormality of the 2nd finger human_phenotype HP:0004100 Abnormal 2nd finger morphology HP:0004100 An anomaly of the second finger, also known as the index finger. https://orcid.org/0000-0002-0736-9199 Abnormality of index finger true HP:0004101 true HP:0004102 true HP:0004103 true HP:0004104 true HP:0004105 true HP:0004106 true HP:0004107 true HP:0004108 true HP:0004109 HP:0009542 human_phenotype HP:0004110 obsolete Radially deviated index finger phalanges true HP:0004110 true HP:0004111 An abnormal groove on the midline of the nose that may extend to the nasal tip. 2009-01-21T04:59:08Z UMLS:C4025412 Central nasal groove Midline nasal groove human_phenotype HP:0004112 Midline nasal groove HP:0004112 An abnormal groove on the midline of the nose that may extend to the nasal tip. https://orcid.org/0009-0006-4530-3154 Central nasal groove https://orcid.org/0000-0001-5889-4463 Midline nasal groove true HP:0004113 true HP:0004114 true HP:0004115 true HP:0004116 true HP:0004117 true HP:0004118 true HP:0004119 true HP:0004120 HP:0009544 human_phenotype HP:0004121 obsolete Radially displaced proximal index finger phalanx true HP:0004121 This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. 2009-01-21T04:59:54Z HP:0003190 UMLS:C4025411 UMLS:C4280539 Central defect of nose Central nasal defect Midline defect of the nose Midline nasal defect human_phenotype Central cleft of nose Midline cleft of nose HP:0004122 Midline defect of the nose HP:0004122 This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. https://orcid.org/0009-0006-4530-3154 Central defect of nose https://orcid.org/0000-0001-5889-4463 Central nasal defect https://orcid.org/0000-0001-5889-4463 Midline defect of the nose Midline nasal defect https://orcid.org/0000-0001-5889-4463 Central cleft of nose https://orcid.org/0000-0001-5889-4463 Midline cleft of nose https://orcid.org/0000-0001-5889-4463 true HP:0004123 true HP:0004124 true HP:0004125 true HP:0004126 true HP:0004127 true HP:0004128 true HP:0004129 true HP:0004130 true HP:0004131 An abnormal indentation of the skin in the region of the nasal tip. 2009-01-21T05:05:55Z UMLS:C1863349 Dimple on nasal tip Dimpled tip of nose human_phenotype HP:0004132 Dimple on nasal tip HP:0004132 An abnormal indentation of the skin in the region of the nasal tip. https://orcid.org/0009-0006-4530-3154 Dimple on nasal tip Dimpled tip of nose https://orcid.org/0000-0001-5889-4463 true HP:0004133 true HP:0004134 true HP:0004135 true HP:0004136 true HP:0004137 HP:0009541 human_phenotype HP:0004138 obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger true HP:0004138 HP:0009569 human_phenotype HP:0004139 obsolete Flared metaphysis of middle phalanx of index finger true HP:0004139 true HP:0004140 true HP:0004141 true HP:0004142 HP:0009542 human_phenotype HP:0004143 obsolete Radially deviated terminal index finger phalanx true HP:0004143 HP:0009948 human_phenotype HP:0004144 obsolete Duplication of terminal index finger phalanx true HP:0004144 true HP:0004145 true HP:0004146 true HP:0004147 true HP:0004148 true HP:0004149 An anomaly of the third finger. UMLS:C4021682 Abnormality of the 3rd finger Abnormality of the middle finger human_phenotype HP:0004150 Abnormal 3rd finger morphology HP:0004150 An anomaly of the third finger. https://orcid.org/0000-0002-0736-9199 true HP:0004151 true HP:0004152 HP:0009316 human_phenotype HP:0004153 obsolete Overgrowth of middle finger true HP:0004153 true HP:0004154 true HP:0004155 true HP:0004156 HP:0009963 human_phenotype HP:0004157 obsolete Accessory middle-finger phalanges true HP:0004157 true HP:0004158 true HP:0004159 true HP:0004160 HP:0009316 human_phenotype HP:0004161 obsolete Periosteal new bone of middle finger phalanges true HP:0004161 HP:0009316 human_phenotype HP:0004162 obsolete Radially pointed middle finger phalanges true HP:0004162 true HP:0004163 true HP:0004164 true HP:0004165 true HP:0004166 true HP:0004167 HP:0009316 human_phenotype HP:0004168 obsolete Radially pointed proximal middle-finger phalanx true HP:0004168 true HP:0004169 true HP:0004170 true HP:0004171 UMLS:C4025410 Abnormal middle finger bone of the middle finger human_phenotype HP:0004172 Abnormality of the middle phalanx of the 3rd finger HP:0004172 Abnormal middle finger bone of the middle finger https://orcid.org/0000-0001-6908-9849 true HP:0004173 HP:0009963 human_phenotype HP:0004174 obsolete Accessory middle phalanx of middle finger true HP:0004174 HP:0004172 human_phenotype HP:0004175 obsolete Periosteal new bone of middle phalanx of middle-finger true HP:0004175 true HP:0004176 true HP:0004177 true HP:0004178 true HP:0004179 Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. HP:0004182 UMLS:C4021681 Hypoplastic/small distal phalanx of the 3rd finger Short distal phalanx of the third finger Short outermost bone of the middle finger Short terminal phalanx of middle finger human_phenotype HP:0004180 Short distal phalanx of the 3rd finger HP:0004180 Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. https://orcid.org/0009-0006-4530-3154 Short outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 true HP:0004181 true HP:0004182 HP:0009357 human_phenotype HP:0004183 obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger true HP:0004183 HP:0009423 human_phenotype HP:0004184 obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger true HP:0004184 HP:0009316 human_phenotype HP:0004185 obsolete Fused epiphysis of terminal phalanx of the middle finger true HP:0004185 HP:0009316 human_phenotype HP:0004186 obsolete Large epiphysis of terminal phalanx of the middle finger true HP:0004186 HP:0009316 human_phenotype HP:0004187 obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger true HP:0004187 UMLS:C4021680 Abnormality of the 4th finger Abnormality of the ring finger human_phenotype HP:0004188 Abnormal 4th finger morphology HP:0004188 true HP:0004189 true HP:0004190 true HP:0004191 HP:0009394 human_phenotype HP:0004192 obsolete Bracket epiphyses of the 4th finger true HP:0004192 HP:0009172 human_phenotype HP:0004193 obsolete Expanded phalanges of the ring finger true HP:0004193 HP:0009408 human_phenotype HP:0004194 obsolete Hypoplastic phalanges of the ring finger true HP:0004194 Osteolytic defects of the phalanges of the 4th (ring) finger. UMLS:C4020832 UMLS:C4025409 human_phenotype Lytic defects of the phalanges of the ring finger HP:0004195 Osteolytic defects of the phalanges of the 4th finger HP:0004195 Osteolytic defects of the phalanges of the 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 HP:0009408 human_phenotype HP:0004196 obsolete Short phalanges of the ring finger true HP:0004196 Congenital bony fusion of two adjacent phalanges of the fourth finger. HP:0009308 UMLS:C4021679 Fused ring finger bones Symphalangism of the ring finger human_phenotype HP:0004197 Fourth finger symphalangism HP:0004197 Congenital bony fusion of two adjacent phalanges of the fourth finger. https://orcid.org/0000-0002-0736-9199 Fused ring finger bones https://orcid.org/0000-0001-5208-3432 HP:0009172 human_phenotype HP:0004198 obsolete Wide/broad phalanges of the ring finger true HP:0004198 true HP:0004199 true HP:0004200 HP:0009310 human_phenotype HP:0004201 obsolete Expanded proximal phalanx of the ring finger true HP:0004201 HP:0009312 human_phenotype HP:0004202 obsolete Lytic defects of the proximal phalanx of the ring finger true HP:0004202 HP:0009300 human_phenotype HP:0004203 obsolete Short proximal phalanx of the ring finger true HP:0004203 true HP:0004204 true HP:0004205 true HP:0004206 An abnormality affecting one or both 5th fingers. UMLS:C4021678 Abnormality of the 5th finger Abnormality of the little finger Abnormality of the pinkie finger Abnormality of the pinky finger human_phenotype HP:0004207 Abnormal 5th finger morphology HP:0004207 An abnormality affecting one or both 5th fingers. https://orcid.org/0009-0006-4530-3154 Abnormality of the little finger Abnormality of the pinkie finger https://orcid.org/0000-0001-5208-3432 Abnormality of the pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0004208 Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). HP:0001158 HP:0001588 HP:0004212 HP:0006083 HP:0006181 HP:0009181 Curvature of little finger Curvature of pinkie finger Curvature of pinky finger UMLS:C1850049 UMLS:C4280538 Bilateral fifth digit clinodactyly Bilateral fifth finger clinodactyly Clinodactyly of fifth digit Clinodactyly of the little finger Fifth finger clinodactyly Permanent curving of the pinkie finger human_phenotype HP:0004209 Minor degrees of curvature of the small finger are so common as to be considered normal. Clinodactyly of the 5th finger HP:0004209 Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). PMID:16252026 https://orcid.org/0000-0002-0736-9199 Curvature of little finger https://orcid.org/0000-0001-5208-3432 Curvature of pinkie finger https://orcid.org/0000-0001-5208-3432 Curvature of pinky finger https://orcid.org/0000-0001-5208-3432 Permanent curving of the pinkie finger https://orcid.org/0000-0002-6548-5200 true HP:0004210 true HP:0004211 true HP:0004212 Abnormality of the phalanges of the 5th (little) finger. UMLS:C4025408 Abnormality of the little finger bone Abnormality of the phalanges of the 5th finger Abnormality of the pinkie finger bone Abnormality of the pinky finger bone human_phenotype HP:0004213 Abnormal 5th finger phalanx morphology HP:0004213 Abnormality of the phalanges of the 5th (little) finger. https://orcid.org/0009-0006-4530-3154 Abnormality of the little finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the pinkie finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the pinky finger bone https://orcid.org/0000-0001-5208-3432 Curved phalanges of the 5th (little) finger. UMLS:C4025407 Curved little finger bone Curved pinkie finger bone Curved pinky finger bone human_phenotype HP:0004214 Curved phalanges of the 5th finger HP:0004214 Curved phalanges of the 5th (little) finger. https://orcid.org/0000-0002-0736-9199 Curved little finger bone https://orcid.org/0000-0001-5208-3432 Curved pinkie finger bone https://orcid.org/0000-0001-5208-3432 Curved pinky finger bone https://orcid.org/0000-0001-5208-3432 true HP:0004215 Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. UMLS:C4021677 Lytic defects of the phalanges of the little finger human_phenotype HP:0004216 Osteolytic defects of the phalanges of the 5th finger HP:0004216 Dissolution or degeneration of bone tissue of the phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 true HP:0004217 Congenital bony fusion of two adjacent phalanges of the fifth finger. HP:0009178 UMLS:C4021676 Fifth finger symphalangism Fused little finger bones Fused pinkie finger bones Fused pinky finger bones Symphalagism of the little finger human_phenotype HP:0004218 Fifth finger symphalangism HP:0004218 Congenital bony fusion of two adjacent phalanges of the fifth finger. https://orcid.org/0000-0002-0736-9199 Fused little finger bones https://orcid.org/0000-0001-5208-3432 Fused pinkie finger bones https://orcid.org/0000-0001-5208-3432 Fused pinky finger bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025406 Abnormality of the middle bone of little finger Abnormality of the middle bone of pinkie finger Abnormality of the middle bone of pinky finger human_phenotype HP:0004219 Abnormality of the middle phalanx of the 5th finger HP:0004219 Abnormality of the middle bone of little finger https://orcid.org/0000-0001-5208-3432 Abnormality of the middle bone of pinkie finger https://orcid.org/0000-0001-6908-9849 Abnormality of the middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 Hypoplastic/small middle phalanx of the fifth finger. HP:0001243 HP:0003069 HP:0004221 HP:0005649 HP:0005706 HP:0005734 HP:0005813 UMLS:C1834060 5th finger middle phalangeal hypoplasia Brachymesophalangism V Brachymesophalangy V (finger) Fifth finger mid-phalanx hypoplasia Hypoplastic fifth finger middle phalanx Hypoplastic middle phalanx of the 5th finger Hypoplastic/small middle phalanx of the 5th finger Hypoplastic/small middle phalanx of the little finger Short middle bone of the little finger Short middle bone of the pinkie finger Short middle bone of the pinky finger Short middle phalanx of the little finger Type A3 brachydactyly human_phenotype HP:0004220 Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). Short middle phalanx of the 5th finger HP:0004220 Hypoplastic/small middle phalanx of the fifth finger. PMID:18494372 https://orcid.org/0000-0002-5316-1399 Short middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Short middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Short middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0004221 A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. UMLS:C4021675 Cone-shaped end part of the outermost little finger bone Cone-shaped end part of the outermost pinkie finger bone Cone-shaped end part of the outermost pinky finger bone Cone-shaped epiphysis of the distal phalanx of the little finger human_phenotype HP:0004222 Cone-shaped epiphysis of the distal phalanx of the 5th finger HP:0004222 A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. HP:0004229 UMLS:C4021674 Increased bone density of end part of the outermost little finger bone Increased bone density of end part of the outermost pinkie finger bone Increased bone density of end part of the outermost pinky finger bone Ivory epiphysis of the distal phalanx of the little finger Ivory epiphysis of the terminal phalanx of the little finger human_phenotype HP:0004223 Ivory epiphysis of the distal phalanx of the 5th finger HP:0004223 Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. UMLS:C4025405 Abnormality of the end part of middle little finger bone Abnormality of the end part of middle pinkie finger bone Abnormality of the end part of middle pinky finger bone human_phenotype HP:0004224 Abnormality of the epiphysis of the middle phalanx of the 5th finger HP:0004224 Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of middle little finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the distal phalanx of the 5th (little) finger. UMLS:C4021673 Abnormality of the distal phalanx of the little finger Abnormality of the outermost little finger bone Abnormality of the outermost pinkie finger bone Abnormality of the outermost pinky finger bone Abnormality of the terminal phalanx of the little finger human_phenotype HP:0004225 Abnormality of the distal phalanx of the 5th finger HP:0004225 Abnormality of the distal phalanx of the 5th (little) finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Curved appearance of the distal phalanx of the 5th (little) finger. UMLS:C4021672 Curved outermost little finger bone Curved outermost pinkie finger bone Curved outermost pinky finger bone Curved terminal phalanx of the little finger human_phenotype HP:0004226 Curved distal phalanx of the 5th finger HP:0004226 Curved appearance of the distal phalanx of the 5th (little) finger. https://orcid.org/0000-0002-0736-9199 Curved outermost little finger bone https://orcid.org/0000-0001-5208-3432 Curved outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Curved outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Hypoplastic/small distal phalanx of the fifth finger. HP:0006171 UMLS:C1836674 Brachytelophalangism V Fifth digit distal phalangeal hypoplasia Hypoplastic/small terminal phalanx of the little finger Short distal phalanx of the fifth finger Short outermost little finger bone Short outermost pinkie finger bone Short outermost pinky finger bone human_phenotype HP:0004227 Short distal phalanx of the 5th finger HP:0004227 Hypoplastic/small distal phalanx of the fifth finger. https://orcid.org/0009-0006-4530-3154 Short outermost little finger bone https://orcid.org/0000-0001-5208-3432 Short outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Short outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 true HP:0004228 true HP:0004229 A partial dislocation of the proximal interphalangeal joint of the little finger. UMLS:C4025404 Partially dislocated innermost hinge joint of little finger Partially dislocated innermost hinge joint of pinkie finger Partially dislocated innermost hinge joint of pinky finger human_phenotype HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger HP:0004230 A partial dislocation of the proximal interphalangeal joint of the little finger. https://orcid.org/0009-0006-4530-3154 Partially dislocated innermost hinge joint of little finger https://orcid.org/0000-0001-5208-3432 Partially dislocated innermost hinge joint of pinkie finger https://orcid.org/0000-0001-5208-3432 Partially dislocated innermost hinge joint of pinky finger https://orcid.org/0000-0001-5208-3432 Congenital absence of a carpal bone. HP:0005056 HP:0006020 HP:0006084 Absent wrist bone Missing wrist bone UMLS:C1836219 UMLS:C4280537 Absent carpal bone Absent carpal bones Absent carpal ossification center Absent carpal ossification centre Aplastic carpal bone human_phenotype HP:0004231 Radiographically difficult to distinguish between absent ossification of a carpal bone. Carpal bone aplasia HP:0004231 Congenital absence of a carpal bone. https://orcid.org/0000-0002-0736-9199 Absent wrist bone https://orcid.org/0000-0001-5208-3432 Missing wrist bone https://orcid.org/0000-0001-5208-3432 Absent carpal ossification centre The presence of more than the normal number of carpal bones. Extra wrist bones SNOMEDCT_US:20136007 SNOMEDCT_US:9181003 UMLS:C0265609 Supernumerary carpal bones human_phenotype HP:0004232 Accessory carpal bones HP:0004232 The presence of more than the normal number of carpal bones. https://orcid.org/0000-0002-0736-9199 Extra wrist bones https://orcid.org/0000-0001-5208-3432 Ossification of carpal bones at an abnormally early age. HP:0006104 Accelerated wrist bone maturation UMLS:C1849292 UMLS:C4280536 Accelerated carpal bone maturation Advanced carpal bone age Advanced carpal ossification Precociously ossified carpal bones human_phenotype HP:0004233 Advanced ossification of carpal bones HP:0004233 Ossification of carpal bones at an abnormally early age. https://orcid.org/0000-0002-0736-9199 Accelerated wrist bone maturation https://orcid.org/0000-0001-5208-3432 The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. Bone-in-a-bone appearance of wrist bones UMLS:C4025403 human_phenotype HP:0004234 Bone-in-a-bone appearance of carpal bones HP:0004234 The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones. https://orcid.org/0000-0002-0736-9199 Bone-in-a-bone appearance of wrist bones https://orcid.org/0000-0001-5208-3432 Comma-shaped wrist bones UMLS:C4025402 human_phenotype HP:0004235 Comma-shaped carpal bones HP:0004235 Comma-shaped wrist bones https://orcid.org/0000-0001-5208-3432 Carpal bones with irregular or fragmented margins. Irregular wrist bones UMLS:C4025401 human_phenotype HP:0004236 Irregular carpal bones HP:0004236 Carpal bones with irregular or fragmented margins. https://orcid.org/0000-0002-0736-9199 Irregular wrist bones https://orcid.org/0000-0001-5208-3432 Increased size of carpal bones. Large wrist bones UMLS:C4021671 Large carpals human_phenotype HP:0004237 Large carpal bones HP:0004237 Increased size of carpal bones. https://orcid.org/0000-0002-0736-9199 Large wrist bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025400 human_phenotype HP:0004238 Lytic defects of carpal bones HP:0004238 UMLS:C4025399 human_phenotype HP:0004239 Proximally placed carpal bones HP:0004239 Hardened spots within wrist bones Stiffened spots within wrist bones UMLS:C4025398 UMLS:C4280535 human_phenotype HP:0004240 Sclerotic foci within carpal bones HP:0004240 Hardened spots within wrist bones https://orcid.org/0000-0001-5208-3432 Stiffened spots within wrist bones https://orcid.org/0000-0001-5208-3432 Point-shaped (punctate) calcifications affecting the carpal bones. HP:0006177 UMLS:C1844846 Punctate calcifications of carpals human_phenotype HP:0004241 Stippled calcification in carpal bones HP:0004241 Point-shaped (punctate) calcifications affecting the carpal bones. https://orcid.org/0000-0002-0736-9199 Wide wrist bones UMLS:C3554618 Wide carpal bones human_phenotype HP:0004242 Broad carpal bones HP:0004242 Wide wrist bones https://orcid.org/0000-0001-5208-3432 Any structural anomaly of the scaphoid. The scaphoid is the largest bone of the proximal row of carpal bones. It is located on the same side as the thumb. UMLS:C4025397 Abnormality of the scaphoid human_phenotype HP:0004243 Abnormal scaphoid morphology HP:0004243 Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse. UMLS:C4025396 Bipartite scaphoid human_phenotype HP:0004244 Accessory scaphoid HP:0004244 Variations in the development of carpal bones are uncommon, with the scaphoid bone typically forming from the fusion of the os centrale carpi and the radial chondrification center during embryogenesis. A bipartite scaphoid is a rare congenital disorder that occurs when these ossification centers fail to fuse. PMID:39764661 UMLS:C4025395 human_phenotype HP:0004245 Comma-shaped scaphoid HP:0004245 Formation of bone tissue of scaphoid is less than expected for age. UMLS:C4021670 Delayed maturation of the scaphoid human_phenotype HP:0004246 Delayed ossification of the scaphoid HP:0004246 Formation of bone tissue of scaphoid is less than expected for age. https://orcid.org/0009-0006-4530-3154 Underdevelopment of the scaphoid. UMLS:C4025394 human_phenotype HP:0004247 Small scaphoid HP:0004247 Underdevelopment of the scaphoid. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the lunate bone, which is located in the proximal row of carpal bones. UMLS:C4025393 human_phenotype HP:0004248 Abnormal lunate bone morphology HP:0004248 UMLS:C4025392 human_phenotype HP:0004249 Accessory lunate HP:0004249 UMLS:C4025391 human_phenotype HP:0004250 Proximally placed lunate HP:0004250 Osseous fusion of the lunate and triquetrum. UMLS:C1867930 Lunotriquetral synostosis human_phenotype HP:0004251 Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved. Lunate-triquetral fusion HP:0004251 Osseous fusion of the lunate and triquetrum. PMID:23853014 An anomaly of the trapezium, which is the carpal bone located at the base of the thumb. UMLS:C4025390 human_phenotype HP:0004252 Abnormal trapezium morphology HP:0004252 An anomaly of the trapezium, which is the carpal bone located at the base of the thumb. https://orcid.org/0000-0002-0736-9199 UMLS:C1847190 Absent trapezium bone human_phenotype HP:0004253 Absent trapezium HP:0004253 Formation of bone tissue of trapezium is less than expected for age. UMLS:C4021669 Delayed maturation of the trapezium human_phenotype HP:0004254 Delayed ossification of the trapezium HP:0004254 Formation of bone tissue of trapezium is less than expected for age. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the trapezium. UMLS:C4025389 human_phenotype HP:0004255 Small trapezium HP:0004255 Underdevelopment of the trapezium. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the trapezoid bone, which is the smallest bone in the distal row of carpal bones. UMLS:C4025388 Abnormality of the trapezoid bone human_phenotype HP:0004256 Abnormal trapezoid bone morphology HP:0004256 Formation of bone tissue of trapezoid is less than expected for age. UMLS:C4021668 Delayed maturation of the trapezoid bone human_phenotype HP:0004257 Delayed ossification of the trapezoid bone HP:0004257 Formation of bone tissue of trapezoid is less than expected for age. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the trapezoid. UMLS:C4025387 human_phenotype HP:0004258 Small trapezoid bone HP:0004258 Underdevelopment of the trapezoid. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the hamate bone, which is the ulnar-most bone located within the distal row of carpal bones, neighboured by the capitate bone radially. UMLS:C4025386 Abnormality of the hamate bone human_phenotype HP:0004259 Abnormal hamate bone morphology HP:0004259 A structural anomaly of the hamate bone, which is the ulnar-most bone located within the distal row of carpal bones, neighboured by the capitate bone radially. PMID:39552736 UMLS:C4025385 Large unciform bone human_phenotype HP:0004260 Large hamate bone HP:0004260 Large unciform bone https://orcid.org/0000-0001-6908-9849 UMLS:C4021667 Broad hamate bone Wide unciform bone human_phenotype HP:0004261 Wide hamate bone HP:0004261 Wide unciform bone https://orcid.org/0000-0001-6908-9849 A structural anomaly of the capitate bone, which is the largest of the carpal bones in the human hand. UMLS:C4025384 Abnormality of the capitate bone human_phenotype HP:0004262 Abnormal capitate bone morphology HP:0004262 A structural anomaly of the capitate bone, which is the largest of the carpal bones in the human hand. PMID:27524693 UMLS:C4025383 human_phenotype HP:0004263 Large capitate bone HP:0004263 HP:0004265 UMLS:C4021666 Decreased carpal joint angles human_phenotype HP:0004264 Narrow carpal joint spaces HP:0004264 true HP:0004265 true HP:0004266 UMLS:C4025382 Narrow small joints of the hand human_phenotype HP:0004267 Narrow small joints of the hand HP:0004267 Narrow small joints of the hand UMLS:C4025381 human_phenotype HP:0004268 Osteoarthritis of the small joints of the hand HP:0004268 A partial dislocation of some or all of the small joints of the hand. UMLS:C4025380 Partial dislocation of small joints of hand human_phenotype HP:0004269 Subluxation of the small joints of the hand HP:0004269 A partial dislocation of some or all of the small joints of the hand. https://orcid.org/0000-0002-0736-9199 Partial dislocation of small joints of hand https://orcid.org/0000-0001-5208-3432 true HP:0004270 UMLS:C4025379 human_phenotype HP:0004271 Cortical thickening of hand bones HP:0004271 UMLS:C4025378 human_phenotype HP:0004272 Cortical thinning of hand bones HP:0004272 UMLS:C4025377 Cupped metaphysis of hand bones Cupped wide portion of hand bones human_phenotype HP:0004273 Cupped metaphyses of hand bones HP:0004273 Cupped metaphysis of hand bones https://orcid.org/0000-0001-6908-9849 Cupped wide portion of hand bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025376 UMLS:C4280534 human_phenotype Deficient maturation of hand bones HP:0004274 Deficient ossification of hand bones HP:0004274 Deficient maturation of hand bones https://orcid.org/0000-0001-5208-3432 UMLS:C3276746 Duplication of hand bones human_phenotype HP:0004275 Duplication of hand bones HP:0004275 Duplication of hand bones Abnormal formation of new bone on the surface of a bone of the hand. UMLS:C4025375 human_phenotype HP:0004276 Exostoses of hand bones HP:0004276 Abnormal formation of new bone on the surface of a bone of the hand. https://orcid.org/0000-0002-0736-9199 HP:0041232 SNOMEDCT_US:20511007 UMLS:C0435632 Broken hand bones Fractured hand bones human_phenotype HP:0004277 Fractured hand bones HP:0004277 Broken hand bones https://orcid.org/0000-0001-5208-3432 Fractured hand bones An abnormal union between bones or parts of bones of the hand. UMLS:C4020831 human_phenotype Fused hand bones HP:0004278 Synostosis involving bones of the hand HP:0004278 An abnormal union between bones or parts of bones of the hand. https://orcid.org/0009-0006-4530-3154 Fused hand bones Short palm. HP:0001165 UMLS:C1843108 Short palm human_phenotype Hypoplastic hands Short hands Short palms HP:0004279 This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. Short palm HP:0004279 Short palm. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Short palm Short hands Short palms https://orcid.org/0000-0002-5316-1399 UMLS:C4025374 human_phenotype Irregular maturation of hand bones HP:0004280 Irregular ossification of hand bones HP:0004280 Irregular maturation of hand bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025373 human_phenotype HP:0004281 Irregular sclerosis of hand bones HP:0004281 true HP:0004282 For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. UMLS:C1857632 Narrow hand Narrow palm human_phenotype Narrow hands HP:0004283 Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. Narrow palm HP:0004283 For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. PMID:19125433 Narrow palm Narrow hands https://orcid.org/0000-0002-5316-1399 UMLS:C4025372 Notched hand bones human_phenotype HP:0004284 Notched hand bones HP:0004284 Notched hand bones UMLS:C4025371 human_phenotype HP:0004285 Overmodelled hand bones HP:0004285 UMLS:C4025370 Uneven increase in bone density in hand bones human_phenotype HP:0004286 Patchy sclerosis of hand bones HP:0004286 Uneven increase in bone density in hand bones https://orcid.org/0000-0001-5208-3432 UMLS:C4025369 Pointed hand bones human_phenotype HP:0004287 Pointed hand bones HP:0004287 Pointed hand bones UMLS:C4025368 human_phenotype HP:0004288 Pseudoepiphyses of hand bones HP:0004288 UMLS:C4025367 human_phenotype HP:0004289 Sclerotic foci in hand bones HP:0004289 UMLS:C4025366 human_phenotype HP:0004290 Sclerosis of hand bones with transverse striations HP:0004290 UMLS:C4025365 human_phenotype HP:0004291 Stippled calcification of hand bones HP:0004291 UMLS:C4025364 human_phenotype HP:0004292 Undermodelled hand bones HP:0004292 Fusion of the second metacarpal-trapezoid. UMLS:C4021665 Fusion of second metacarpal-trapezoid human_phenotype HP:0004293 Synostosis of second metacarpal-trapezoid HP:0004293 Fusion of the second metacarpal-trapezoid. https://orcid.org/0000-0002-0736-9199 A partial dislocation affecting some or all of the metacarpophalangeal joints. UMLS:C4025363 Partial knuckle dislocation Subluxation of metacarpophalangeal joints human_phenotype HP:0004294 Subluxation of metacarpal phalangeal joints HP:0004294 A partial dislocation affecting some or all of the metacarpophalangeal joints. https://orcid.org/0000-0002-0736-9199 Partial knuckle dislocation https://orcid.org/0000-0001-6908-9849 Subluxation of metacarpophalangeal joints https://orcid.org/0000-0001-6908-9849 An abnormality of the gastric mucous membrane. 2008-02-20T11:12:00Z UMLS:C4025362 Abnormality of the gastric mucosa Abnormality of the mucous membrane layer of stomach human_phenotype HP:0004295 Abnormal gastric mucosa morphology HP:0004295 An abnormality of the gastric mucous membrane. https://orcid.org/0000-0002-0736-9199 Abnormality of the mucous membrane layer of stomach https://orcid.org/0000-0001-5208-3432 2008-02-20T11:24:00Z UMLS:C4025361 Abnormality of GI blood vessels Abnormality of GI vasculature Abnormality of gastrointestinal vasculature human_phenotype HP:0004296 Abnormal gastrointestinal vascular morphology HP:0004296 Abnormality of GI blood vessels https://orcid.org/0000-0001-5208-3432 Abnormality of GI vasculature An abnormality of the biliary system. 2008-02-20T11:34:00Z UMLS:C0940767 human_phenotype HP:0004297 Abnormality of the biliary system HP:0004297 An abnormality of the biliary system. https://orcid.org/0000-0002-0736-9199 The presence of any abnormality affecting the abdominal wall. 2008-02-20T11:40:00Z HP:0001462 UMLS:C4021664 Abnormality of external features of the abdomen Abnormality of the abdominal wall human_phenotype HP:0004298 Abnormal abdominal wall morphology HP:0004298 The presence of any abnormality affecting the abdominal wall. https://orcid.org/0000-0002-0736-9199 Abnormality of the abdominal wall The presence of a hernia in the abdominal wall. 2008-02-20T11:42:00Z Fyler:4414 SNOMEDCT_US:128545000 UMLS:C1442978 Herniated abdominal wall human_phenotype HP:0004299 A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. Hernia of the abdominal wall HP:0004299 The presence of a hernia in the abdominal wall. https://orcid.org/0000-0002-0736-9199 Herniated abdominal wall https://orcid.org/0000-0001-5208-3432 true HP:0004300 true HP:0004301 2008-02-20T11:52:00Z UMLS:C4025360 Functional motor problems human_phenotype HP:0004302 Functional motor deficit HP:0004302 Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. 2008-02-20T12:04:00Z HP:0003706 HP:0011806 UMLS:C4021663 Abnormal muscle fibre morphology Abnormal skeletal muscle fiber morphology Abnormal skeletal muscle fibre morphology Abnormality of muscle fibers Abnormality of muscle fibres human_phenotype HP:0004303 Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. Abnormal muscle fiber morphology HP:0004303 Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. PMID:22938878 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre morphology Abnormal skeletal muscle fibre morphology Abnormality of muscle fibres true HP:0004304 Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. 2008-02-20T12:18:00Z HP:0007120 SNOMEDCT_US:102542000 UMLS:C0235086 Involuntary movements Involuntary muscle contractions human_phenotype HP:0004305 Involuntary movements HP:0004305 Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. https://orcid.org/0000-0002-0736-9199 Involuntary movements Involuntary muscle contractions An abnormality of the endocardium. 2008-02-20T01:23:00Z HP:0005260 UMLS:C4021662 Abnormality of the endocardium Abnormality of the endomycoardium human_phenotype HP:0004306 Abnormal endocardium morphology HP:0004306 An abnormality of the endocardium. https://orcid.org/0000-0002-0736-9199 Developmental defect characterized by an anomalous anatomic location of the heart. 2008-02-20T01:23:00Z UMLS:C4025359 human_phenotype HP:0004307 Abnormal anatomic location of the heart HP:0004307 2008-02-20T01:28:00Z SNOMEDCT_US:44103008 UMLS:C0085612 Ventricular arrhythmias human_phenotype HP:0004308 Ventricular arrhythmia HP:0004308 Ventricular arrhythmias https://orcid.org/0000-0002-5316-1399 An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. 2008-02-20T01:29:00Z HP:0006676 SNOMEDCT_US:195060002 UMLS:C0559106 Pre-excitation syndrome Preexcitation Ventricular pre-excitation human_phenotype HP:0004309 Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. Ventricular preexcitation HP:0004309 An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. https://orcid.org/0000-0002-0736-9199 true HP:0004310 An abnormality of macrophages. 2008-02-20T03:14:00Z HP:0004310 UMLS:C4021661 Abnormality of histiocytes Abnormality of macrophages human_phenotype HP:0004311 Abnormal macrophage morphology HP:0004311 An abnormality of macrophages. https://orcid.org/0000-0002-0736-9199 A reticulocyte abnormality. 2008-02-20T03:19:00Z UMLS:C4025358 Abnormality of reticulocytes human_phenotype HP:0004312 Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. Abnormal reticulocyte morphology HP:0004312 A reticulocyte abnormality. https://orcid.org/0000-0002-0736-9199 An abnormally decreased level of immunoglobulin in blood. 2008-02-20T03:34:00Z HP:0010703 SNOMEDCT_US:119250001 UMLS:C0086438 UMLS:C4048270 Decreased antibody level in blood Decreased circulating antibody level Decreased immunoglobulin level Decreased serum immunoglobulin Hypogammaglobulinemia Immunoglobulin deficiency Reduced immunoglobulin levels human_phenotype HP:0004313 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. Decreased circulating immunoglobulin concentration HP:0004313 An abnormally decreased level of immunoglobulin in blood. https://orcid.org/0000-0002-0736-9199 Decreased circulating antibody level true HP:0004314 An abnormally decreased level of immunoglobulin G (IgG) in blood. 2008-02-20T03:43:00Z HP:0003289 HP:0003294 HP:0005394 HP:0008325 HP:0008340 SNOMEDCT_US:123785006 SNOMEDCT_US:190981001 UMLS:C0162539 Decreased IgG level Decreased IgG level in blood Decreased circulating IgG level Decreased gamma-globin expression Decreased immunoglobulin G Decreased serum IgG IgG deficiency Reduced IgG levels human_phenotype HP:0004315 Decreased circulating IgG concentration HP:0004315 An abnormally decreased level of immunoglobulin G (IgG) in blood. https://orcid.org/0000-0002-0736-9199 true HP:0004316 true HP:0004317 true HP:0004318 Abnormally reduced levels of aldosterone. 2008-02-25T10:45:00Z HP:0000355 HP:0002924 HP:0008184 HP:0008190 SNOMEDCT_US:60086000 UMLS:C0020595 UMLS:C0857899 UMLS:C1846226 Decreased aldosterone Decreased aldosterone production Decreased serum aldosterone Hypoaldosteronism Low blood aldosterone level Mineralocorticoid insufficiency human_phenotype HP:0004319 Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. Decreased circulating aldosterone concentration HP:0004319 Abnormally reduced levels of aldosterone. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Low blood aldosterone level https://orcid.org/0000-0002-6548-5200 The presence of a fistula of the vagina. 2008-02-25T12:17:00Z SNOMEDCT_US:45135002 UMLS:C0042253 human_phenotype HP:0004320 Vaginal fistula HP:0004320 The presence of a fistula of the vagina. https://orcid.org/0000-0002-0736-9199 The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. 2008-02-25T12:32:00Z SNOMEDCT_US:68666001 UMLS:C0005690 human_phenotype HP:0004321 Bladder fistula HP:0004321 The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin. https://orcid.org/0000-0002-0736-9199 A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). 2008-02-27T03:19:00Z HP:0001509 HP:0003501 HP:0003507 HP:0003512 HP:0003518 HP:0003519 HP:0008871 HP:0008882 HP:0008888 HP:0008913 SNOMEDCT_US:237836003 UMLS:C0349588 Decreased body height Height less than 3rd percentile Short stature Small stature Stature below 3rd percentile human_phenotype HP:0004322 Short stature HP:0004322 A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). https://orcid.org/0000-0002-0736-9199 Decreased body height Short stature Small stature An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. 2008-02-27T03:21:00Z HP:0010718 UMLS:C0878621 UMLS:C4025357 Abnormality of body weight human_phenotype Abnormality of habitus HP:0004323 Abnormality of body weight HP:0004323 An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. https://orcid.org/0000-0002-0736-9199 Abnormality of body weight Abnormally increased body weight. 2008-02-27T03:21:00Z HP:0045083 SNOMEDCT_US:161831008 SNOMEDCT_US:262286000 SNOMEDCT_US:8943002 UMLS:C0043094 Increased body weight human_phenotype Weight gain HP:0004324 Increased body weight HP:0004324 Increased body weight Weight gain Abnormally low body weight. 2008-02-27T03:22:00Z HP:0001823 HP:0001826 SNOMEDCT_US:161832001 SNOMEDCT_US:248342006 SNOMEDCT_US:262285001 SNOMEDCT_US:89362005 UMLS:C0041667 UMLS:C1262477 UMLS:C1844806 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile human_phenotype HP:0004325 Decreased body weight HP:0004325 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. 2008-02-27T03:23:00Z SNOMEDCT_US:238108007 SNOMEDCT_US:285384003 UMLS:C0006625 Wasting syndrome human_phenotype HP:0004326 Cachexia HP:0004326 Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. https://orcid.org/0000-0002-0736-9199 Wasting syndrome https://orcid.org/0000-0001-5208-3432 Any structural anomaly of the vitreous body. 2008-02-27T04:20:00Z UMLS:C4025356 Abnormal vitreous humour morphology human_phenotype HP:0004327 The vitreous humor is the clear gel that fills the space between the lens and the retina. Abnormal vitreous humor morphology HP:0004327 Any structural anomaly of the vitreous body. https://orcid.org/0000-0002-0736-9199 Abnormal vitreous humour morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). 2008-02-27T04:23:00Z UMLS:C4025355 Abnormal anterior segment morphology Abnormality of the anterior segment of the eye Abnormality of the anterior segment of the eyeball Abnormality of the anterior segment of the globe human_phenotype HP:0004328 The anterior segment comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens. Abnormal anterior eye segment morphology HP:0004328 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens). https://orcid.org/0000-0002-0736-9199 2008-02-27T04:25:00Z UMLS:C4025354 Abnormal morphology of the posterior segment of the globe Abnormality of the posterior segment of the eye Abnormality of the posterior segment of the eyeball Abnormality of the posterior segment of the globe human_phenotype HP:0004329 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. Abnormal posterior eye segment morphology HP:0004329 An increase in the magnitude or amount of ossification of the skull. 2008-02-28T11:54:00Z SNOMEDCT_US:17401000119104 UMLS:C0020496 UMLS:C4072850 UMLS:C4072851 Hyperossification of skull Hyperostosis of skull Sclerosis of bones of skull Sclerosis of skull human_phenotype Increased Mineralization of skull Increased calcification of skull HP:0004330 Increased skull ossification HP:0004330 An increase in the magnitude or amount of ossification of the skull. https://orcid.org/0000-0002-0736-9199 Hyperossification of skull https://orcid.org/0000-0001-5889-4463 Hyperostosis of skull https://orcid.org/0000-0001-5889-4463 Sclerosis of bones of skull https://orcid.org/0000-0001-5889-4463 Sclerosis of skull https://orcid.org/0000-0001-5889-4463 Increased Mineralization of skull https://orcid.org/0000-0001-5889-4463 Increased calcification of skull https://orcid.org/0000-0001-5889-4463 A reduction in the magnitude or amount of ossification of the skull. 2008-02-28T11:54:00Z HP:0003780 SNOMEDCT_US:253980008 UMLS:C0432073 UMLS:C4280533 Decreased bone formation of skull Deficient skull ossification Hypoossification of skull Ossification defect of skull Poorly mineralized skull Poorly ossified skull Poorly ossified skull bones human_phenotype Decreased calcification of skull Decreased mineralization of skull HP:0004331 Decreased skull ossification HP:0004331 A reduction in the magnitude or amount of ossification of the skull. https://orcid.org/0000-0002-0736-9199 Decreased bone formation of skull https://orcid.org/0000-0002-6548-5200 Hypoossification of skull https://orcid.org/0000-0001-5889-4463 Ossification defect of skull https://orcid.org/0000-0001-5889-4463 Poorly ossified skull https://orcid.org/0000-0001-5889-4463 Decreased calcification of skull https://orcid.org/0000-0001-5889-4463 Decreased mineralization of skull https://orcid.org/0000-0001-5889-4463 An abnormality of lymphocytes. 2008-02-28T06:46:00Z HP:0001887 HP:0012140 SNOMEDCT_US:250284007 UMLS:C0427546 Abnormal lymphocytes Abnormality of cells of the lymphoid lineage human_phenotype HP:0004332 A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. Abnormal lymphocyte morphology HP:0004332 An abnormality of lymphocytes. https://orcid.org/0000-0002-0736-9199 The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. 2008-02-28T06:48:00Z HP:0001979 UMLS:C1856560 Bone marrow foam cells Large vacuolated foam cells ('NP cells') on bone marrow biopsy Large vacuolated foam cells on bone marrow biopsy human_phenotype HP:0004333 Bone-marrow foam cells HP:0004333 The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. https://orcid.org/0000-0002-0736-9199 Partial or complete wasting (atrophy) of the skin. 2008-03-04T06:24:00Z HP:0000985 HP:0001077 MEDDRA:10040799 SNOMEDCT_US:399979006 SNOMEDCT_US:400190005 UMLS:C0151514 Atrophic skin Skin atrophy Skin degeneration human_phenotype HP:0004334 Dermal atrophy HP:0004334 Partial or complete wasting (atrophy) of the skin. https://orcid.org/0000-0002-0736-9199 MEDDRA:10040799 Skin atrophy Skin degeneration https://orcid.org/0000-0001-5208-3432 true HP:0004335 The presence of excessive redundant myelin in the peripheral nerve sheath. 2008-03-04T06:41:00Z HP:0003433 HP:0006898 HP:0007290 UMLS:C1843168 Excessive focal folding of myelin sheaths Irregular myelin foldings human_phenotype HP:0004336 This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). Myelin outfoldings HP:0004336 The presence of excessive redundant myelin in the peripheral nerve sheath. PMID:10932274 https://orcid.org/0000-0002-0736-9199 Abnormality of an amino acid metabolic process. 2008-03-08T07:53:00Z UMLS:C1328440 human_phenotype Amino acid levels abnormal HP:0004337 Abnormality of amino acid metabolism HP:0004337 Abnormality of an amino acid metabolic process. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of aromatic amino acid in the blood circulation. 2008-03-08T07:55:00Z UMLS:C4025352 Abnormal aromatic amino acid level Abnormal circulating aromatic amino acid concentration Abnormality of aromatic amino acid family metabolism human_phenotype HP:0004338 Abnormal circulating aromatic amino acid concentration HP:0004338 Any deviation from the normal concentration of sulfur-containing amino acid in the blood circulation. 2008-03-08T08:01:00Z UMLS:C4021660 Abnormal circulating sulfur amino acid concentration Abnormal circulating sulphur amino acid concentration Abnormal sulfur-containing amino acid level Abnormality of sulfur-containing amino acids human_phenotype HP:0004339 Cysteine and methionine contain a sulfur atom. Abnormal circulating sulfur-containing amino acid concentration HP:0004339 Abnormal circulating sulphur amino acid concentration The concentration of one or more B vitamins is outside the reference range. 2008-03-08T08:08:00Z UMLS:C4021659 Abnormality of B-vitamin metabolism human_phenotype HP:0004340 Abnormal circulating vitamin B concentration HP:0004340 The concentration of vitamin B12 (or one of its metabolites) in the blood circulation is outside the limits of normal. 2008-03-08T08:09:00Z HP:0040126 Abnormal serum cobalamin level Abnormal vitamin B12 level Abnormality of the vitamin B12 metabolism human_phenotype HP:0004341 Abnormal vitamin B12 concentration HP:0004341 Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose. 2008-03-08T08:33:00Z UMLS:C4025351 Abnormality of galactoside metabolism human_phenotype HP:0004342 Abnormal galactosidase enyzme activity HP:0004342 Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose. HPO_CONTRIBUTOR:gcarletti An abnormality of glycosphingolipid metabolism. 2008-03-08T08:35:00Z UMLS:C4025350 Abnormality of glycosphingolipid metabolism human_phenotype HP:0004343 Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. Abnormal glycosphingolipid metabolism HP:0004343 An abnormality of glycosphingolipid metabolism. https://orcid.org/0000-0002-0736-9199 2008-03-08T08:36:00Z UMLS:C4025349 human_phenotype HP:0004344 Abnormality of cerebrosidase metabolism HP:0004344 Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). 2008-03-11T07:50:00Z UMLS:C4025348 human_phenotype HP:0004345 A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. Ganglioside accumulation HP:0004345 Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). PMID:21937853 https://orcid.org/0000-0002-0736-9199 true HP:0004346 Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. 2008-03-11T08:03:00Z UMLS:C4025347 human_phenotype HP:0004347 Weakness of muscles of respiration HP:0004347 Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. https://orcid.org/0000-0002-0736-9199 This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. 2008-03-11T08:10:00Z UMLS:C4021657 Abnormality of bone mineralisation and ossification human_phenotype HP:0004348 Abnormality of bone mineral density HP:0004348 This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. https://orcid.org/0000-0002-0736-9199 A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. 2008-03-11T08:10:00Z UMLS:C2674432 Decreased bone mineral density Decreased bone mineral density Z score Low solidness and mass of the bones human_phenotype HP:0004349 Reduced bone mineral density HP:0004349 A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. https://orcid.org/0009-0006-4530-3154 Decreased bone mineral density https://orcid.org/0000-0002-5316-1399 Low solidness and mass of the bones https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0004350 true HP:0004351 Any deviation from the normal concentration of purines in the blood circulation. 2008-03-17T01:04:00Z UMLS:C4025346 Abnormal circulating purine concentration Abnormal circulating purine level Abnormal purines level human_phenotype HP:0004352 Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. Abnormal circulating purines concentration HP:0004352 Any deviation from the normal concentration of a pyrimidine in the blood circulation. 2008-03-17T01:05:00Z UMLS:C4025345 Abnormal circulating pyrimidines concentration Abnormal pyrimidines level human_phenotype HP:0004353 The pyrimidines include cytosine, thymine, and uracil. Abnormal circulating pyrimidine concentration HP:0004353 Any deviation from the normal concentration of carboxylic acid in the blood circulation. 2008-03-17T01:11:00Z UMLS:C4025344 Abnormal carboxylic acid level Abnormal circulating carboxylic acid concentration human_phenotype HP:0004354 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). Abnormal circulating carboxylic acid concentration HP:0004354 HP:0001939 2008-03-17T01:12:00Z human_phenotype HP:0004355 obsolete Abnormality of proteoglycan metabolism true HP:0004355 2008-03-17T02:40:00Z UMLS:C4025342 human_phenotype HP:0004356 A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. Abnormality of lysosomal metabolism HP:0004356 Any deviation from the normal concentration of leucine in the blood circulation. 2008-03-17T03:02:00Z UMLS:C4025341 Abnormal circulating leucine concentration Abnormal leucine level human_phenotype HP:0004357 Abnormal circulating leucine concentration HP:0004357 2008-03-17T03:22:00Z UMLS:C4025340 human_phenotype HP:0004358 NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. Abnormality of superoxide metabolism HP:0004358 Any deviation from the normal concentration of fatty acid in the blood circulation. 2008-03-17T03:28:00Z UMLS:C4020830 UMLS:C4021656 Abnormal circulating fatty acid concentration Abnormal fatty acid level Abnormality of fatty acid metabolism human_phenotype Fatty acids abnormal HP:0004359 A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. Abnormal circulating fatty acid concentration HP:0004359 An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. 2008-03-17T03:35:00Z UMLS:C0001118 human_phenotype Acid base imbalance HP:0004360 Abnormality of acid-base homeostasis HP:0004360 An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. https://orcid.org/0000-0002-0736-9199 An abnormal concentration of leptin in the blood. 2008-03-17T03:37:00Z UMLS:C4025339 Abnormality of circulating leptin level human_phenotype HP:0004361 Abnormal circulating leptin concentration HP:0004361 An abnormal concentration of leptin in the blood. https://orcid.org/0000-0002-0736-9199 An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. 2008-03-17T03:40:00Z HP:0002596 HP:0003283 UMLS:C4025338 Abnormality of enteric ganglion morphology human_phenotype Abnormality of the enteric ganglia HP:0004362 Abnormal enteric ganglion morphology HP:0004362 An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of calcium in the blood circulation. 2008-03-17T04:15:00Z HP:0040077 Abnormal blood calcium concentration Abnormal blood calcium levels Abnormal calcium(2+) level Abnormal circulating Ca concentration Abnormal circulating Ca2+ concentration Abnormal circulating calcium concentration human_phenotype HP:0004363 Abnormal circulating calcium concentration HP:0004363 Abnormal blood calcium concentration https://orcid.org/0000-0001-7941-2961 Abnormal blood calcium levels https://orcid.org/0000-0001-5208-3432 Abnormal circulating Ca concentration https://orcid.org/0000-0001-7941-2961 Abnormal circulating Ca2+ concentration https://orcid.org/0000-0001-7941-2961 Any deviation from the normal concentration of nitrogen compound in the blood circulation. 2008-03-17T04:51:00Z UMLS:C4025336 Abnormal circulating nitrogen compound concentration Abnormal nitrogen compound level human_phenotype HP:0004364 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. Abnormal circulating nitrogen compound concentration HP:0004364 Any deviation from the normal concentration of tryptophan in the blood circulation. 2008-03-17T04:55:00Z UMLS:C4025335 Abnormal circulating tryptophan concentration Abnormal tryptophan level Abnormality of tryptophan metabolism human_phenotype HP:0004365 Abnormal circulating tryptophan concentration HP:0004365 HP:0011013 2008-03-17T05:00:00Z human_phenotype HP:0004366 obsolete Abnormality of glycolysis true HP:0004366 HP:0001939 human_phenotype HP:0004367 obsolete Abnormality of glycoprotein metabolism true HP:0004367 The concentration of purines in the blood circulation is above the upper limit of normal. 2008-03-18T06:31:00Z UMLS:C4025332 Elevated purine concentration Elevated purines level Increased circulating purine concentration Increased purine level Increased purine levels Increased purines concentration Increased purines level human_phenotype HP:0004368 Purine compounds are aromatic heterocyclic compounds containing a purine moiety. Elevated circulating purine concentration HP:0004368 Increased purine levels The concentration of purines in the blood circulation is below the lower limit of normal. 2008-03-18T06:32:00Z UMLS:C4025331 Decreased circulating purine concentration Decreased purine level Decreased purine levels Decreased purines concentration Decreased purines level Reduced purines concentration Reduced purines level human_phenotype HP:0004369 Decreased circulating purines concentration HP:0004369 Decreased purine levels An abnormality of temperature homeostasis. 2008-03-18T06:34:00Z UMLS:C0005904 UMLS:C1832160 Abnormality of temperature regulation Impaired temperature control Impaired temperature regulation Inability to control temperature Inability to regulate temperature Poor control of temperature Poor regulation of temperature Poor temperature control Poor temperature regulation Unable to control temperature human_phenotype Body temperature changes HP:0004370 Abnormality of temperature regulation HP:0004370 An abnormality of temperature homeostasis. https://orcid.org/0000-0002-0736-9199 Abnormality of temperature regulation Poor temperature regulation Body temperature changes Abnormality of glycosaminoglycan metabolism. 2008-03-18T06:36:00Z UMLS:C4025330 human_phenotype HP:0004371 A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. Abnormality of glycosaminoglycan metabolism HP:0004371 Abnormality of glycosaminoglycan metabolism. https://orcid.org/0000-0002-0736-9199 Abnormally diminished level of attention, responsiveness, or wakefulness. 2008-03-18T07:12:00Z SNOMEDCT_US:3006004 UMLS:C0234428 Disturbances of consciousness Lowered consciousness Reduced consciousness/confusion human_phenotype HP:0004372 Reduced consciousness HP:0004372 Disturbances of consciousness Lowered consciousness Reduced consciousness/confusion A type of dystonia that is localized to a specific part of the body. 2008-03-18T07:33:00Z HP:0007140 SNOMEDCT_US:445006008 UMLS:C0743332 human_phenotype HP:0004373 Focal dystonia HP:0004373 A type of dystonia that is localized to a specific part of the body. https://orcid.org/0000-0002-0736-9199 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. 2008-03-18T07:35:00Z UMLS:C0375206 Paralysis or weakness of one side of body human_phenotype HP:0004374 Hemiplegia/hemiparesis HP:0004374 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. https://orcid.org/0000-0002-0736-9199 Paralysis or weakness of one side of body https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 A tumor (abnormal growth of tissue) of the nervous system. 2008-03-18T07:38:00Z NCIT:C3262 SNOMEDCT_US:126950007 UMLS:C0027766 Tumor of the nervous system Tumour of the nervous system human_phenotype Neoplasia of the nervous system Nervous system cancer HP:0004375 Neoplasm of the nervous system HP:0004375 A tumor (abnormal growth of tissue) of the nervous system. https://orcid.org/0000-0002-0736-9199 Tumor of the nervous system https://orcid.org/0009-0006-4530-3154 Tumour of the nervous system Nervous system cancer https://orcid.org/0000-0001-5208-3432 A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. 2008-03-18T07:39:00Z UMLS:C1334953 Neuroblastic tumour human_phenotype HP:0004376 Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. Neuroblastic tumor HP:0004376 A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. PMID:27823645 Neuroblastic tumour Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). 2008-03-18T07:44:00Z Blood tumor Blood tumour SNOMEDCT_US:129154003 SNOMEDCT_US:269475001 UMLS:C0376545 Haematological neoplasm human_phenotype HP:0004377 Hematological neoplasm HP:0004377 Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). http://www.ncbi.nlm.nih.gov/mesh?term=Hematologic%20Neoplasms Blood tumor https://orcid.org/0000-0001-5208-3432 Blood tumour Haematological neoplasm Abnormality of the anal canal. 2008-03-18T08:11:00Z UMLS:C4025329 Abnormality of the anus human_phenotype HP:0004378 The anal canal is continuous proximally with the rectum and distally terminates with the anus. Abnormality of the anus HP:0004378 Abnormality of the anal canal. https://orcid.org/0000-0002-0736-9199 Abnormality of the anus An abnormality of alkaline phosphatase level. 2008-03-18T08:13:00Z UMLS:C4020829 UMLS:C4025328 Abnormality of ALP level Abnormality of alkaline phosphatase activity human_phenotype Alkaline phosphatase abnormal HP:0004379 Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. Abnormality of alkaline phosphatase level HP:0004379 An abnormality of alkaline phosphatase level. https://orcid.org/0000-0002-0736-9199 Abnormality of ALP level Deposition of calcium salts in the aortic valve. 2008-03-18T08:52:00Z HP:0004759 HP:0005173 SNOMEDCT_US:250978003 UMLS:C0428791 human_phenotype HP:0004380 Aortic valve calcification HP:0004380 Deposition of calcium salts in the aortic valve. https://orcid.org/0000-0002-0736-9199 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. 2008-03-18T08:54:00Z Fyler:1430 SNOMEDCT_US:268185002 UMLS:C0003499 human_phenotype HP:0004381 Supravalvular aortic stenosis HP:0004381 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. https://orcid.org/0000-0002-0736-9199 Abnormal calcification of the mitral valve. 2008-03-18T08:55:00Z HP:0005149 HP:0200129 SNOMEDCT_US:473372009 UMLS:C0919718 human_phenotype HP:0004382 Mitral valve calcification HP:0004382 Abnormal calcification of the mitral valve. https://orcid.org/0000-0002-0736-9199 A severe congenital heart defect characterized by underdevelopment of the left ventricle. 2008-03-18T08:56:00Z SNOMEDCT_US:62067003 UMLS:C0152101 Heart left ventricle hypoplasia Left ventricular hypoplasia Underdeveloped left heart human_phenotype HP:0004383 This feature most often occurs as part of the Hypoplastic left heart syndrome (HLHS), which may comprise additional malfmorations atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. If present, the additional features should be coded with the corresponding HPO terms. Hypoplastic left ventricle HP:0004383 A severe congenital heart defect characterized by underdevelopment of the left ventricle. PMID:22192721 PMID:32119463 https://orcid.org/0000-0002-0736-9199 Underdeveloped left heart https://orcid.org/0000-0001-5208-3432 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. 2008-03-18T08:57:00Z Fyler:0510 Fyler:510 UMLS:C1834934 Persistent truncus arteriosus type I Type 1 truncus arteriosus human_phenotype HP:0004384 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. Type I truncus arteriosus HP:0004384 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 2008-03-18T09:00:00Z SNOMEDCT_US:236077008 UMLS:C0473133 Protracted diarrhoea human_phenotype HP:0004385 Protracted diarrhea HP:0004385 Protracted diarrhoea Inflammation of the alimentary part of the gastrointestinal system. 2008-03-18T09:01:00Z UMLS:C1535950 GI inflammation Gastrointestinal inflammation human_phenotype HP:0004386 Gastrointestinal inflammation HP:0004386 GI inflammation Gastrointestinal inflammation An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). 2008-03-18T09:02:00Z SNOMEDCT_US:43752006 UMLS:C0014356 human_phenotype HP:0004387 Enterocolitis HP:0004387 An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). https://orcid.org/0009-0006-4530-3154 A colon of abnormally small caliber. 2008-03-18T09:02:00Z SNOMEDCT_US:18389004 UMLS:C0266200 UMLS:C3553395 human_phenotype Microcolon on contrast enema HP:0004388 Microcolon HP:0004388 A colon of abnormally small caliber. PMID:3484569 Microcolon on contrast enema https://orcid.org/0000-0002-5316-1399 A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. 2008-03-18T09:03:00Z SNOMEDCT_US:235825006 SNOMEDCT_US:715201005 UMLS:C0021847 Intestinal pseudoobstruction human_phenotype HP:0004389 Intestinal pseudo-obstruction HP:0004389 A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. https://orcid.org/0000-0002-0736-9199 Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. 2008-03-18T09:04:00Z SNOMEDCT_US:27391005 UMLS:C0334092 UMLS:C3277418 Gastrointestinal hamartoma Hamartomatous polyps human_phenotype Gastrointestinal hamartomatous polyps HP:0004390 Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. Hamartomatous polyposis HP:0004390 Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. PMID:17768394 https://orcid.org/0009-0006-4530-3154 Gastrointestinal hamartomatous polyps https://orcid.org/0000-0002-5316-1399 true HP:0004391 A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. 2008-03-18T09:08:00Z SNOMEDCT_US:5187006 UMLS:C0033770 Prune belly human_phenotype HP:0004392 Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. Prune belly HP:0004392 A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. https://orcid.org/0000-0002-0736-9199 Prune belly true HP:0004393 2008-03-18T09:11:00Z SNOMEDCT_US:78809005 SNOMEDCT_US:87252009 UMLS:C0236048 human_phenotype HP:0004394 Multiple gastric polyps HP:0004394 A deficiency in the intake of energy and nutrients. 2008-03-18T09:12:00Z SNOMEDCT_US:248325000 SNOMEDCT_US:2492009 SNOMEDCT_US:47563007 SNOMEDCT_US:65404009 SNOMEDCT_US:70241007 UMLS:C0162429 Malnutrition human_phenotype HP:0004395 Malnutrition HP:0004395 Malnutrition A reduced desire to eat. 2008-03-18T09:12:00Z SNOMEDCT_US:64379006 UMLS:C0232462 Decreased appetite Loss of appetite Poor appetite human_phenotype No appetite HP:0004396 Poor appetite HP:0004396 Decreased appetite Poor appetite No appetite Abnormal displacement or malposition of the anus. 2008-03-18T09:13:00Z SNOMEDCT_US:5153001 UMLS:C0266231 Abnormal anus position Anus malposition human_phenotype HP:0004397 Ectopic anus HP:0004397 Abnormal displacement or malposition of the anus. https://orcid.org/0000-0002-0736-9199 Abnormal anus position https://orcid.org/0000-0001-5208-3432 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. 2008-03-18T09:14:00Z SNOMEDCT_US:13200003 UMLS:C0030920 Sore in the lining of gastrointestinal tract human_phenotype HP:0004398 Symptoms of peptic ulcer disease have limited predictive value because they are non-specific. Patients with duodenal ulcers typically feel hungry or have nocturnal abdominal pain. By contrast, patients with gastric ulcers have postprandial abdominal pain, nausea, vomiting, and weight loss. Patients with untreated peptic ulcer disease typically have relapsing symptoms because of spontaneous healing and relapse while the causal factor (eg, H pylori infection or NSAID use) persists. Peptic ulcer HP:0004398 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers. PMID:28242110 https://orcid.org/0000-0002-0736-9199 Sore in the lining of gastrointestinal tract https://orcid.org/0000-0002-6548-5200 Congenital atresia of the pylorus. 2008-03-18T09:15:00Z UMLS:C4025327 human_phenotype HP:0004399 Congenital pyloric atresia HP:0004399 Congenital atresia of the pylorus. https://orcid.org/0000-0002-0736-9199 An abnormality of the pylorus. 2008-03-18T09:15:00Z UMLS:C4025326 human_phenotype HP:0004400 Abnormality of the pylorus HP:0004400 An abnormality of the pylorus. https://orcid.org/0000-0002-0736-9199 Obstruction of the intestine due to abnormally thick meconium. 2008-03-18T09:16:00Z HP:0002610 HP:0004402 SNOMEDCT_US:206523001 SNOMEDCT_US:233662009 SNOMEDCT_US:86092005 UMLS:C0398349 UMLS:C2939175 UMLS:C3553397 Meconium ileus in neonates human_phenotype Distal intestinal obstruction syndrome Meconium ileus on ultrasonography HP:0004401 Obstruction of the intestine is known as ileus. Meconium ileus HP:0004401 Obstruction of the intestine due to abnormally thick meconium. https://orcid.org/0000-0002-0736-9199 Meconium ileus on ultrasonography https://orcid.org/0000-0002-5316-1399 true HP:0004402 2008-03-18T09:17:00Z UMLS:C4025325 human_phenotype HP:0004403 Proximal esophageal atresia HP:0004403 An abnormality of the nipple. 2008-03-18T09:18:00Z SNOMEDCT_US:700153004 UMLS:C3839073 Abnormality of the nipple human_phenotype HP:0004404 Abnormal nipple morphology HP:0004404 An abnormality of the nipple. https://orcid.org/0000-0002-0736-9199 Abnormality of the nipple 2008-03-18T09:19:00Z UMLS:C1855513 Prominent nipples human_phenotype HP:0004405 Prominent nipples HP:0004405 Prominent nipples 2008-03-18T09:20:00Z HP:0003684 UMLS:C3809715 Recurrent epistaxes Recurrent epistaxis Recurring nosebleed Spontaneous, recurrent nosebleed human_phenotype HP:0004406 Spontaneous, recurrent epistaxis HP:0004406 Recurring nosebleed https://orcid.org/0000-0001-5889-4463 Spontaneous, recurrent nosebleed https://orcid.org/0000-0001-5208-3432 2008-03-18T09:20:00Z UMLS:C1857499 human_phenotype HP:0004407 Bony paranasal bossing HP:0004407 An anomaly in the ability to perceive and distinguish scents (odors). 2008-03-18T09:21:00Z HP:0004410 UMLS:C4021655 Abnormal sense of smell Abnormality of olfaction Abnormality of the sense of smell Smell defect human_phenotype HP:0004408 Abnormality of the sense of smell HP:0004408 Abnormal sense of smell https://orcid.org/0000-0002-5316-1399 Abnormality of the sense of smell Smell defect A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). 2008-03-18T09:21:00Z SNOMEDCT_US:83156004 UMLS:C2364082 Decreased smell sensation Sense of smell impaired human_phenotype HP:0004409 Hyposmia HP:0004409 A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). https://orcid.org/0000-0002-0736-9199 true HP:0004410 Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. 2008-03-18T09:23:00Z SNOMEDCT_US:126660000 UMLS:C0549397 Crooked nasal septum Crooked septum of nose Deviated nasal septum Deviated septum of nose human_phenotype HP:0004411 Deviated nasal septum HP:0004411 Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. https://orcid.org/0000-0002-0736-9199 Crooked nasal septum https://orcid.org/0000-0001-5889-4463 Crooked septum of nose https://orcid.org/0000-0001-5889-4463 Deviated nasal septum Deviated septum of nose https://orcid.org/0000-0001-5889-4463 true HP:0004412 true HP:0004413 An abnormality of the pulmonary artery. 2008-03-18T09:28:00Z SNOMEDCT_US:128588008 SNOMEDCT_US:198914002 SNOMEDCT_US:36110001 UMLS:C0009681 Abnormality of lung artery human_phenotype HP:0004414 Abnormality of the pulmonary artery HP:0004414 An abnormality of the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Abnormality of lung artery https://orcid.org/0000-0001-5208-3432 An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2008-03-18T09:28:00Z Fyler:1622 SNOMEDCT_US:95441000 UMLS:C0238397 Narrowing of lung artery human_phenotype HP:0004415 Stenosis, or narrowing, of the branches of the pulmonary artery is a type of congenital heart disease that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life. Pulmonary artery stenosis HP:0004415 An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:30587259 https://orcid.org/0000-0002-0736-9199 Narrowing of lung artery https://orcid.org/0000-0001-5208-3432 2008-03-18T09:28:00Z Premature plaque build-up in arteries UMLS:C4021654 UMLS:C4280264 Premature atherosclerosis human_phenotype HP:0004416 Precocious atherosclerosis HP:0004416 Premature plaque build-up in arteries https://orcid.org/0000-0001-5208-3432 Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. 2008-03-18T09:29:00Z SNOMEDCT_US:63491006 UMLS:C0021775 human_phenotype HP:0004417 Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. Intermittent claudication HP:0004417 Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. PMID:27770207 Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). 2008-03-18T09:30:00Z SNOMEDCT_US:64156001 UMLS:C0040046 human_phenotype HP:0004418 Thrombophlebitis HP:0004418 Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). https://orcid.org/0000-0002-0736-9199 Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). 2008-03-18T09:31:00Z UMLS:C3550150 Recurrent phlebitis Recurrent thrombosis human_phenotype HP:0004419 Recurrent thrombophlebitis HP:0004419 Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). https://orcid.org/0000-0002-0736-9199 The formation of a blood clot inside an artery. 2008-03-18T09:32:00Z SNOMEDCT_US:65198009 UMLS:C0151942 Blood clot in artery human_phenotype HP:0004420 Arterial thrombosis HP:0004420 The formation of a blood clot inside an artery. https://orcid.org/0000-0002-0736-9199 Blood clot in artery https://orcid.org/0000-0001-6908-9849 Abnormal increase in systolic blood pressure. 2008-03-18T09:33:00Z HP:0004956 UMLS:C1840374 Elevated systolic BP human_phenotype HP:0004421 Normal systolic blood pressure is less than 120 mmHg in adults. Elevated systolic blood pressure HP:0004421 Abnormal increase in systolic blood pressure. https://orcid.org/0000-0002-0736-9199 Elevated systolic BP A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). 2008-03-18T09:35:00Z UMLS:C1854418 UMLS:C4280532 human_phenotype Decreased width of the skull HP:0004422 Biparietal narrowing HP:0004422 A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). https://orcid.org/0000-0002-0736-9199 Decreased width of the skull https://orcid.org/0000-0001-5889-4463 Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge. 2008-03-18T09:37:00Z SNOMEDCT_US:718099006 UMLS:C1868598 human_phenotype HP:0004423 Cranium bifidum tends to resolve into distinct enlarged parietal foramina over the first few years of life through the midline ossification of a central bridge of bone bisecting the defect. Cranium bifidum occultum HP:0004423 Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge. PMID:28522383 true HP:0004424 A forehead with abnormal flatness. 2008-03-18T09:41:00Z HP:0004659 UMLS:C1857485 Flat forehead Flattened forehead Frontal flattening human_phenotype HP:0004425 Flat forehead HP:0004425 A forehead with abnormal flatness. https://orcid.org/0000-0002-0736-9199 Flat forehead Flattened forehead Frontal flattening https://orcid.org/0000-0001-5889-4463 An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface 2008-03-18T09:42:00Z UMLS:C4025324 Abnormality of the cheek Abnormality of the cheeks Anomaly of the cheeks Deformity of the cheeks Malformation of the cheeks human_phenotype HP:0004426 Abnormal cheek morphology HP:0004426 Abnormality of the cheek Abnormality of the cheeks https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Anomaly of the cheeks Deformity of the cheeks https://orcid.org/0000-0001-5889-4463 Malformation of the cheeks https://orcid.org/0000-0001-5889-4463 true HP:0004427 This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. 2008-03-18T09:43:00Z SNOMEDCT_US:69288002 UMLS:C0332606 Elf-like facial appearance Elf-like facial features human_phenotype Leprechaun facies HP:0004428 Elfin facies HP:0004428 This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. https://orcid.org/0000-0002-0736-9199 Elf-like facial appearance https://orcid.org/0000-0001-5889-4463 Elf-like facial features https://orcid.org/0000-0001-5889-4463 Leprechaun facies https://orcid.org/0000-0001-5889-4463 Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. 2008-03-18T09:45:00Z HP:0005364 UMLS:C1837066 human_phenotype HP:0004429 Recurrent viral infections HP:0004429 Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. https://orcid.org/0000-0002-0736-9199 A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. 2008-03-18T09:46:00Z SNOMEDCT_US:31323000 UMLS:C0085110 Immunodeficiency, severe combined human_phenotype HP:0004430 Severe combined immunodeficiency HP:0004430 A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. https://orcid.org/0000-0002-0736-9199 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. 2008-03-18T09:51:00Z SNOMEDCT_US:24743004 UMLS:C0272242 Complement deficiency human_phenotype HP:0004431 Reduced circulating complement concentration HP:0004431 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. PMID:24161035 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. 2008-03-18T09:47:00Z HP:0008328 SNOMEDCT_US:119249001 UMLS:C0001768 Agammaglobulinaemia human_phenotype HP:0004432 Agammaglobulinemia HP:0004432 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. https://orcid.org/0000-0002-0736-9199 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. 2008-03-18T09:48:00Z SNOMEDCT_US:234554004 UMLS:C0398709 human_phenotype HP:0004433 Decreased secretory IgA concentration HP:0004433 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. PMID:2251975 https://orcid.org/0000-0002-0736-9199 Concentration of the complement component C8 in the blood circulation below the lower limit of normal. 2008-03-18T09:53:00Z UMLS:C3151082 C8 deficiency Decreased serum complement C8 human_phenotype HP:0004434 The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections. Decreased circulating complement C8 concentration HP:0004434 Concentration of the complement component C8 in the blood circulation below the lower limit of normal. PMID:8098723 true HP:0004435 true HP:0004436 Excessive growth of the bones of cranium, i.e., of the skull. 2008-03-18T09:57:00Z HP:0002698 Enlargement of skull bones Excessive growth of skull bones Hypertrophy of cranial bones Overgrowth of skull bones Thick skull bones UMLS:C1832451 UMLS:C4280528 UMLS:C4280529 UMLS:C4280530 UMLS:C4280531 Hyperostosis of cranial bones Hyperostosis of cranial vault Increased ossification of cranial bones human_phenotype HP:0004437 Cranial hyperostosis HP:0004437 Excessive growth of the bones of cranium, i.e., of the skull. https://orcid.org/0000-0002-0736-9199 Enlargement of skull bones https://orcid.org/0000-0001-5889-4463 Excessive growth of skull bones https://orcid.org/0000-0001-5889-4463 Hypertrophy of cranial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of skull bones https://orcid.org/0000-0001-5889-4463 Thick skull bones https://orcid.org/0000-0001-5889-4463 Hyperostosis of cranial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of cranial bones https://orcid.org/0000-0001-5889-4463 Bony overgrowth of the internal (endosteal) surface of the frontal bone. 2008-03-18T09:57:00Z Enlargement of the inner surface of the frontal bone Hypertrophy of the internal surface of the frontal bone Increased ossification of the internal surface of the frontal bone Overgrowth of the inside of the frontal bone Thick inner surface of the frontal bone Thick internal surface of the frontal bone SNOMEDCT_US:82054006 UMLS:C0020494 UMLS:C4280524 UMLS:C4280525 UMLS:C4280526 UMLS:C4280527 Excessive growth of inner surface of the frontal bone Hyperostosis of the internal surface of the frontal bone Overgrowth of the inner surface of the frontal bone human_phenotype HP:0004438 Hyperostosis frontalis interna HP:0004438 Bony overgrowth of the internal (endosteal) surface of the frontal bone. https://orcid.org/0000-0002-0736-9199 Enlargement of the inner surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Hypertrophy of the internal surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Increased ossification of the internal surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Overgrowth of the inside of the frontal bone https://orcid.org/0000-0001-5889-4463 Thick inner surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Thick internal surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Excessive growth of inner surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Hyperostosis of the internal surface of the frontal bone https://orcid.org/0000-0001-5889-4463 Overgrowth of the inner surface of the frontal bone https://orcid.org/0000-0001-5889-4463 A characteristic appearance resulting from defective ossification of craniofacial bones. 2008-03-18T09:58:00Z SNOMEDCT_US:28861008 UMLS:C0010273 Crouzon syndrome human_phenotype HP:0004439 Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. Craniofacial dysostosis HP:0004439 A characteristic appearance resulting from defective ossification of craniofacial bones. https://orcid.org/0000-0002-0736-9199 Crouzon syndrome https://orcid.org/0000-0001-5889-4463 Premature closure of the coronal suture of skull. 2008-03-18T09:59:00Z HP:0002675 HP:0002685 HP:0002739 HP:0004441 UMLS:C1856266 Coronal suture craniosynostosis Coronal suture synostosis Craniosynostosis of coronal suture human_phenotype HP:0004440 Coronal craniosynostosis HP:0004440 Premature closure of the coronal suture of skull. https://orcid.org/0000-0002-0736-9199 Coronal suture craniosynostosis https://orcid.org/0000-0001-5889-4463 Coronal suture synostosis https://orcid.org/0000-0001-5889-4463 true HP:0004441 A kind of craniosynostosis affecting the sagittal suture. 2008-03-18T10:01:00Z SNOMEDCT_US:109418001 UMLS:C0432123 Craniosynostosis, sagittal Craniosynostosis, sagittal suture Early closure of midline skull joint Midline skull joint closes early Sagittal suture synostosis human_phenotype HP:0004442 Sagittal craniosynostosis HP:0004442 A kind of craniosynostosis affecting the sagittal suture. https://orcid.org/0000-0002-0736-9199 Early closure of midline skull joint https://orcid.org/0000-0002-6548-5200 Midline skull joint closes early https://orcid.org/0000-0002-6548-5200 Sagittal suture synostosis https://orcid.org/0000-0001-5889-4463 A kind of craniosynostosis affecting the lambdoidal suture. 2008-03-18T10:01:00Z HP:0004486 SNOMEDCT_US:109417006 UMLS:C1833340 Lambdoid suture craniosynostosis Lambdoid suture synostosis human_phenotype HP:0004443 Lambdoidal craniosynostosis HP:0004443 A kind of craniosynostosis affecting the lambdoidal suture. https://orcid.org/0000-0002-0736-9199 Lambdoid suture synostosis https://orcid.org/0000-0001-5889-4463 The presence of erythrocytes that are sphere-shaped. 2008-03-18T10:05:00Z HP:0004816 SNOMEDCT_US:17235000 UMLS:C0553720 human_phenotype HP:0004444 Erythrocytes are normally biconcave rather than spherical. Spherocytosis HP:0004444 The presence of erythrocytes that are sphere-shaped. https://orcid.org/0000-0002-0736-9199 The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. 2008-03-18T10:05:00Z HP:0004837 SNOMEDCT_US:178935009 SNOMEDCT_US:191169008 SNOMEDCT_US:250242004 UMLS:C0013902 UMLS:C0427480 Ovalocytes Ovalocytosis human_phenotype Elliptocyte Hereditary elliptocytosis HP:0004445 Elliptocytes (ovalocytes) are abnormal erythrocytes ranging from slightly oval to elongated cigar-shaped forms. Elliptocytosis HP:0004445 The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. PMID:16304353 PMID:21250106 https://orcid.org/0000-0002-0736-9199 Ovalocytosis https://en.wikipedia.org/wiki/hereditary_elliptocytosis https://orcid.org/0000-0001-5208-3432 The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. 2008-03-18T10:05:00Z HP:0004801 UMLS:C0677598 Red cell stomatocytosis erythrocyte stomatocytes human_phenotype HP:0004446 Stomatocytosis HP:0004446 The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. PMID:16304353 https://orcid.org/0000-0002-0736-9199 The presence of abnormally shaped erythrocytes. 2008-03-18T10:06:00Z HP:0005540 SNOMEDCT_US:165479004 UMLS:C0221281 human_phenotype HP:0004447 General description for abnormally shaped erythrocytes. Poikilocytosis HP:0004447 The presence of abnormally shaped erythrocytes. https://orcid.org/0000-0002-0736-9199 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. 2008-03-18T10:09:00Z SNOMEDCT_US:197270009 SNOMEDCT_US:235884008 UMLS:C0162557 human_phenotype HP:0004448 Fulminant hepatic failure HP:0004448 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. https://orcid.org/0000-0002-0736-9199 true HP:0004449 A groove of the skin immediately in front of the ear. UMLS:C1852411 Preauricular skin furrows Preauricular skin groove Preauricular skin sulcus Skin groove in front of the ear Skin sulcus in front of the ear human_phenotype HP:0004450 Preauricular skin furrow HP:0004450 A groove of the skin immediately in front of the ear. https://orcid.org/0000-0002-0736-9199 Preauricular skin groove https://orcid.org/0000-0001-5889-4463 Preauricular skin sulcus https://orcid.org/0000-0001-5889-4463 Skin groove in front of the ear https://orcid.org/0000-0001-5889-4463 Skin sulcus in front of the ear https://orcid.org/0000-0001-5889-4463 A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). UMLS:C4025323 Postauricular acrochordon Postauricular fibroepithelial polyp Skin tag behind the ear human_phenotype HP:0004451 Postauricular skin tag HP:0004451 A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). https://orcid.org/0000-0002-0736-9199 Postauricular acrochordon https://orcid.org/0000-0001-5889-4463 Postauricular fibroepithelial polyp https://orcid.org/0000-0001-5889-4463 Skin tag behind the ear https://orcid.org/0000-0001-5889-4463 An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). HP:0001759 UMLS:C1836678 Malformed ossicles Ossicular malformation human_phenotype HP:0004452 Abnormality of the middle ear ossicles HP:0004452 An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). https://orcid.org/0000-0002-0736-9199 A condition in which the superior portion of the helix is folded over to a greater degree than normal. UMLS:C1865304 Overfolding of superior helix human_phenotype HP:0004453 Overfolding of the superior helices HP:0004453 A condition in which the superior portion of the helix is folded over to a greater degree than normal. https://orcid.org/0000-0002-0736-9199 UMLS:C1970887 human_phenotype HP:0004454 Abnormal middle ear reflexes HP:0004454 true HP:0004455 true HP:0004456 true HP:0004457 The presence of a dilated inner part of external acoustic meatus. UMLS:C2676973 Bulbous internal auditory canal Enlarged internal auditory canal human_phenotype HP:0004458 Dilatated internal auditory canal HP:0004458 The presence of a dilated inner part of external acoustic meatus. https://orcid.org/0000-0002-0736-9199 A benign bony growth projecting outward from a bone surface within the external auditory canal. SNOMEDCT_US:19560007 UMLS:C0155411 External auditory canal exostoses human_phenotype HP:0004459 Exostosis of the external auditory canal HP:0004459 A benign bony growth projecting outward from a bone surface within the external auditory canal. https://orcid.org/0000-0002-0736-9199 true HP:0004460 Pits in the earlobes at the location where ears are typically pierced for earrings. UMLS:C1969394 human_phenotype HP:0004461 Congenital earlobe sinuses HP:0004461 Pits in the earlobes at the location where ears are typically pierced for earrings. PMID:6958333 true HP:0004462 Lack of measurable response to stimulation of auditory evoked potentials. UMLS:C1836742 No auditory brainstem response human_phenotype HP:0004463 Absent brainstem auditory responses HP:0004463 Lack of measurable response to stimulation of auditory evoked potentials. https://orcid.org/0000-0002-0736-9199 Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. SNOMEDCT_US:43887004 UMLS:C0395905 Pit behind the ear Postauricular earpits Postauricular fistula Posterior auricular pit Posterior auricular sinus human_phenotype HP:0004464 Postauricular pit HP:0004464 Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. https://orcid.org/0009-0006-4530-3154 Pit behind the ear https://orcid.org/0000-0001-5889-4463 Postauricular earpits https://orcid.org/0000-0001-5889-4463 true HP:0004465 An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response. UMLS:C4025322 human_phenotype HP:0004466 Delayed brainstem auditory evoked response conduction time HP:0004466 Small indentation anterior to the insertion of the ear. HP:0000392 HP:0004460 HP:0005118 HP:0008552 HP:0008578 SNOMEDCT_US:1955003 SNOMEDCT_US:204271000 SNOMEDCT_US:204272007 UMLS:C0266610 UMLS:C0266625 UMLS:C0546969 Ear pit Pit in front of the ear Preauricular earpits Preauricular fistulas Preauricular pits Preauricular sinus human_phenotype HP:0004467 Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. Preauricular pit HP:0004467 Small indentation anterior to the insertion of the ear. PMID:19152421 https://orcid.org/0009-0006-4530-3154 Ear pit https://orcid.org/0000-0001-5208-3432 Pit in front of the ear https://orcid.org/0000-0001-5889-4463 An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). UMLS:C1863406 Abnormal tracheal cartilaginous ring human_phenotype HP:0004468 Anomalous tracheal cartilage HP:0004468 Chronic inflammation of the bronchi. SNOMEDCT_US:63480004 UMLS:C0008677 human_phenotype HP:0004469 Chronic bronchitis HP:0004469 Chronic inflammation of the bronchi. https://orcid.org/0000-0002-0736-9199 A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. UMLS:C1836600 human_phenotype HP:0004470 Atretic occipital cephalocele HP:0004470 A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues. https://orcid.org/0000-0002-0736-9199 A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. UMLS:C1970112 Absent cutis congenita of vertex Aplasia cutis congenita of vertex human_phenotype HP:0004471 Aplasia cutis congenita over the scalp vertex HP:0004471 A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. https://orcid.org/0000-0002-0736-9199 Absent cutis congenita of vertex https://orcid.org/0000-0001-5208-3432 Hyperostosis (bony overgrowth) of the mandible. Excessive growth of mandibular bone Overgrowth of mandibular bone Thick lower jaw bone Thick mandibular bone UMLS:C4025321 UMLS:C4280521 UMLS:C4280522 UMLS:C4280523 Hyperostosis of lower jaw Hyperostosis of mandibular bone Increased ossification of mandibular bone human_phenotype Increased ossification of lower jaw Increased ossification of mandible HP:0004472 This bundled term will be made obsolete in future versions of the HPO. Mandibular hyperostosis HP:0004472 Hyperostosis (bony overgrowth) of the mandible. https://orcid.org/0000-0002-0736-9199 Excessive growth of mandibular bone https://orcid.org/0000-0001-5889-4463 Overgrowth of mandibular bone https://orcid.org/0000-0001-5889-4463 Thick lower jaw bone https://orcid.org/0000-0001-5889-4463 Thick mandibular bone https://orcid.org/0000-0001-5889-4463 Hyperostosis of lower jaw https://orcid.org/0000-0001-5889-4463 Hyperostosis of mandibular bone https://orcid.org/0000-0001-5889-4463 Increased ossification of mandibular bone https://orcid.org/0000-0001-5889-4463 Increased ossification of lower jaw https://orcid.org/0000-0001-5889-4463 Increased ossification of mandible https://orcid.org/0000-0001-5889-4463 true HP:0004473 The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. HP:0004475 HP:0004483 UMLS:C1849537 Front fontanelle stays open Persistent, open anterior fontanel human_phenotype Anterior fontanelle open in adults HP:0004474 Persistent open anterior fontanelle HP:0004474 The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. https://orcid.org/0000-0002-0736-9199 Front fontanelle stays open https://orcid.org/0000-0001-5889-4463 true HP:0004475 A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. UMLS:C1863492 Absent cutis congenita over parietal area human_phenotype HP:0004476 Aplasia cutis congenita over parietal area HP:0004476 A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area. https://orcid.org/0000-0002-0736-9199 Absent cutis congenita over parietal area https://orcid.org/0000-0001-5208-3432 true HP:0004477 HP:0007330 human_phenotype HP:0004478 obsolete Ethmoidal encephalocele true HP:0004478 true HP:0004479 true HP:0004480 The progressive development of an abnormally large skull. HP:0000261 UMLS:C1859896 Macrocephaly, progressive Progressively abnormally enlarging cranium Progressively abnormally enlarging skull human_phenotype HP:0004481 Progressive macrocephaly HP:0004481 The progressive development of an abnormally large skull. https://orcid.org/0000-0002-0736-9199 Progressively abnormally enlarging cranium https://orcid.org/0000-0001-5889-4463 Progressively abnormally enlarging skull https://orcid.org/0000-0001-5889-4463 A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. HP:0000257 HP:0001364 SNOMEDCT_US:3961000119101 UMLS:C1849075 Disproportionately large head Macrocephaly, relative Relatively large head human_phenotype HP:0004482 Relative macrocephaly HP:0004482 A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. https://orcid.org/0000-0002-0736-9199 Relatively large head true HP:0004483 Asymmetry of the bones of the skull and the face. UMLS:C4025320 Uneven craniofacial structures human_phenotype Abnormality of craniofacial shape Malformation of craniofacial shape HP:0004484 Craniofacial asymmetry HP:0004484 Asymmetry of the bones of the skull and the face. https://orcid.org/0000-0002-0736-9199 Uneven craniofacial structures https://orcid.org/0000-0001-5889-4463 Abnormality of craniofacial shape https://orcid.org/0000-0001-5889-4463 Malformation of craniofacial shape https://orcid.org/0000-0001-5889-4463 Stagnation of head growth seen as flattening of the head circumference curve. Skull stopped growing UMLS:C4025319 Cranium stopped growing Head stopped growing human_phenotype HP:0004485 Cessation of head growth HP:0004485 Stagnation of head growth seen as flattening of the head circumference curve. https://orcid.org/0000-0002-0736-9199 Skull stopped growing https://orcid.org/0000-0001-5889-4463 Cranium stopped growing https://orcid.org/0000-0001-5889-4463 Head stopped growing https://orcid.org/0000-0001-5889-4463 true HP:0004486 An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. SNOMEDCT_US:711039004 UMLS:C1863395 human_phenotype HP:0004487 Acrobrachycephaly HP:0004487 An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. https://orcid.org/0000-0002-0736-9199 The presence of an abnormally large skull with onset at birth. Big head present at birth Big head present since birth Congenital large head Large head present at birth Large head present since birth UMLS:C1836599 Big cranium present at birth Big cranium present since birth Big skull present at birth Big skull present since birth Congenital large cranium Congenital large skull Congenital macrocephaly Head circumference large for gestational age Large cranium present at birth Large cranium present since birth Large skull present at birth Large skull present since birth human_phenotype HP:0004488 Macrocephaly at birth HP:0004488 The presence of an abnormally large skull with onset at birth. https://orcid.org/0000-0002-0736-9199 Big head present at birth https://orcid.org/0000-0001-5889-4463 Big head present since birth https://orcid.org/0000-0001-5889-4463 Congenital large head https://orcid.org/0000-0001-5889-4463 Large head present at birth https://orcid.org/0000-0001-5889-4463 Large head present since birth https://orcid.org/0000-0001-5889-4463 Big cranium present at birth https://orcid.org/0000-0001-5889-4463 Big cranium present since birth https://orcid.org/0000-0001-5889-4463 Big skull present at birth https://orcid.org/0000-0001-5889-4463 Big skull present since birth https://orcid.org/0000-0001-5889-4463 Congenital large cranium https://orcid.org/0000-0001-5889-4463 Congenital large skull https://orcid.org/0000-0001-5889-4463 Large cranium present at birth https://orcid.org/0000-0001-5889-4463 Large cranium present since birth https://orcid.org/0000-0001-5889-4463 Large skull present at birth https://orcid.org/0000-0001-5889-4463 Large skull present since birth https://orcid.org/0000-0001-5889-4463 true HP:0004489 Excessive growth of the calvaria. Enlargement of calvarial bones Excessive growth of calvarial bones Hypertrophy of calvarial bones Overgrowth of calvarial bones Thick calvarial bones UMLS:C1863351 UMLS:C4280519 UMLS:C4280520 Hyperostosis of calvarial bones Increased ossification of calvarial bones Overgrowth of skullcap human_phenotype HP:0004490 The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. Calvarial hyperostosis HP:0004490 Excessive growth of the calvaria. https://orcid.org/0000-0002-0736-9199 Enlargement of calvarial bones https://orcid.org/0000-0001-5889-4463 Excessive growth of calvarial bones https://orcid.org/0000-0001-5889-4463 Hypertrophy of calvarial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of calvarial bones https://orcid.org/0000-0001-5889-4463 Thick calvarial bones https://orcid.org/0000-0001-5889-4463 Hyperostosis of calvarial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of calvarial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of skullcap https://orcid.org/0000-0001-5889-4463 An enlargement of the posterior fontanelle relative to age-dependent norms. UMLS:C1855233 Large posterior fontanel human_phenotype HP:0004491 Large posterior fontanelle HP:0004491 An enlargement of the posterior fontanelle relative to age-dependent norms. https://orcid.org/0000-0002-0736-9199 An abnormally increased width of the cranial fontanelles and sutures. HP:0002646 HP:0005492 UMLS:C1849300 Widely patent fontanels and sutures human_phenotype HP:0004492 This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. Widely patent fontanelles and sutures HP:0004492 An abnormally increased width of the cranial fontanelles and sutures. https://orcid.org/0000-0002-0736-9199 Excessive growth of the craniofacial bones. Enlargement of craniofacial bones Excessive growth of craniofacial bones Hypertrophy of craniofacial bones Overgrowth of craniofacial bones Thick craniofacial bones UMLS:C1868085 UMLS:C4280516 UMLS:C4280517 UMLS:C4280518 Excessive bone growth of the skull and face Hyperostosis of craniofacial bones Increased ossification of craniofacial bones human_phenotype HP:0004493 Craniofacial hyperostosis HP:0004493 Excessive growth of the craniofacial bones. https://orcid.org/0000-0002-0736-9199 Enlargement of craniofacial bones https://orcid.org/0000-0001-5889-4463 Excessive growth of craniofacial bones https://orcid.org/0000-0001-5889-4463 Hypertrophy of craniofacial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of craniofacial bones https://orcid.org/0000-0001-5889-4463 Thick craniofacial bones https://orcid.org/0000-0001-5889-4463 Excessive bone growth of the skull and face https://orcid.org/0000-0002-6548-5200 Hyperostosis of craniofacial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of craniofacial bones https://orcid.org/0000-0001-5889-4463 true HP:0004494 HP:0000463 human_phenotype HP:0004495 obsolete Thin anteverted nares true HP:0004495 HP:0000453 human_phenotype HP:0004496 obsolete Posterior choanal atresia true HP:0004496 true HP:0004497 true HP:0004498 UMLS:C4025318 Chronic nasal inflammation due to narrow nasal airway human_phenotype HP:0004499 Chronic rhinitis due to narrow nasal airway HP:0004499 Chronic nasal inflammation due to narrow nasal airway https://orcid.org/0000-0001-5889-4463 true HP:0004500 true HP:0004501 Bilateral absence (atresia) of the posterior nasal aperture (choana). UMLS:C4025317 Bilateral blockage of the rear opening of the nasal cavity Bilateral obstruction of the rear opening of the nasal cavity human_phenotype HP:0004502 Bilateral choanal atresia HP:0004502 Bilateral absence (atresia) of the posterior nasal aperture (choana). https://orcid.org/0000-0002-0736-9199 Bilateral blockage of the rear opening of the nasal cavity https://orcid.org/0000-0001-5889-4463 Bilateral obstruction of the rear opening of the nasal cavity https://orcid.org/0000-0001-5889-4463 true HP:0004503 true HP:0004504 true HP:0004505 true HP:0004506 true HP:0004507 true HP:0004508 true HP:0004509 Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. HP:0001736 HP:0006275 UMLS:C0597167 Hyperplastic islets of langerhans Hypertrophic pancreatic islets Islet of Langerhans hyperplasia Islets of langerhans hypertrophy Pancreatic islet-cell hypertrophy human_phenotype HP:0004510 The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). Pancreatic islet-cell hyperplasia HP:0004510 Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. https://orcid.org/0000-0002-0736-9199 true HP:0004511 true HP:0004512 true HP:0004513 true HP:0004514 true HP:0004515 true HP:0004516 true HP:0004517 true HP:0004518 true HP:0004519 true HP:0004520 true HP:0004521 true HP:0004522 Increased length of the hairs of the eyebrows. UMLS:C3280131 Elongated eyebrow Increased horizontal length of eyebrow Increased transverse length of eyebrow Long eyebrows human_phenotype HP:0004523 Long eyebrows HP:0004523 Increased length of the hairs of the eyebrows. https://orcid.org/0000-0002-0736-9199 Elongated eyebrow https://orcid.org/0000-0001-5889-4463 Increased horizontal length of eyebrow https://orcid.org/0000-0001-5889-4463 Increased transverse length of eyebrow https://orcid.org/0000-0001-5889-4463 Long eyebrows Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). UMLS:C4025316 Reduced hair growth in temporal region human_phenotype HP:0004524 Temporal hypotrichosis HP:0004524 Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). https://orcid.org/0000-0002-0736-9199 Reduced hair growth in temporal region https://orcid.org/0000-0001-5208-3432 true HP:0004525 true HP:0004526 UMLS:C4025315 Large clumps of pigment irregularly distributed along hair shaft human_phenotype HP:0004527 Large clumps of pigment irregularly distributed along hair shaft HP:0004527 Large clumps of pigment irregularly distributed along hair shaft Reduced or lacking hair growth in a generalized distribution. HP:0004513 UMLS:C4021653 Generalised hypotrichosis Hypotrichosis, generalised Hypotrichosis, generalized human_phenotype HP:0004528 Generalized hypotrichosis HP:0004528 Reduced or lacking hair growth in a generalized distribution. https://orcid.org/0000-0002-0736-9199 Generalised hypotrichosis Hypotrichosis, generalised UMLS:C4025314 human_phenotype HP:0004529 Atrophic, patchy alopecia HP:0004529 true HP:0004530 true HP:0004531 Excessive, increased hair growth located in the sacral region. UMLS:C4025313 human_phenotype HP:0004532 Sacral hypertrichosis HP:0004532 Excessive, increased hair growth located in the sacral region. https://orcid.org/0000-0002-0736-9199 true HP:0004533 true HP:0004534 Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. HP:0004517 HP:0004773 UMLS:C1838123 Congenital cervical hypertrichosis Hypertrichosis, congenital anterior cervical human_phenotype HP:0004535 Anterior cervical hypertrichosis HP:0004535 Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence. PMID:20400390 https://orcid.org/0000-0002-0736-9199 true HP:0004536 true HP:0004537 true HP:0004538 true HP:0004539 A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. HP:0004547 HP:0004769 UMLS:C1855900 Congenital generalised hypertrichosis Congenital generalized hypertrichosis Congenital, generalised hypertrichosis Hypertrichosis universalis human_phenotype HP:0004540 Hypertrichosis refers to excessive, abnormal hairiness. Congenital, generalized hypertrichosis HP:0004540 A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. https://orcid.org/0000-0002-0736-9199 Congenital generalised hypertrichosis Congenital, generalised hypertrichosis true HP:0004541 true HP:0004542 true HP:0004543 HP:0000349 human_phenotype HP:0004544 obsolete Pointed frontal hairline true HP:0004544 true HP:0004545 true HP:0004546 true HP:0004547 true HP:0004548 true HP:0004549 true HP:0004550 true HP:0004551 UMLS:C3806301 Cicatricial alopecia human_phenotype Hair loss on scalp from scarring condition HP:0004552 Scarring alopecia of scalp HP:0004552 Cicatricial alopecia https://orcid.org/0000-0001-5889-4463 Hair loss on scalp from scarring condition https://orcid.org/0000-0001-5889-4463 true HP:0004553 Generalized excessive, abnormal hairiness. HP:0004543 HP:0004766 UMLS:C3277940 Generalised hypertrichosis human_phenotype HP:0004554 Generalized hypertrichosis HP:0004554 Generalized excessive, abnormal hairiness. https://orcid.org/0000-0002-0736-9199 Generalised hypertrichosis true HP:0004555 true HP:0004556 UMLS:C1969393 human_phenotype HP:0004557 Anterior vertebral fusion HP:0004557 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. HP:0005641 UMLS:C1856641 Flattened cervical vertebral bodies human_phenotype HP:0004558 Cervical platyspondyly HP:0004558 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. https://orcid.org/0000-0002-0736-9199 true HP:0004559 true HP:0004560 true HP:0004561 UMLS:C1854941 human_phenotype HP:0004562 Beaking of vertebral bodies T12-L3 HP:0004562 Increased bone density affecting the bones of the spine (vertebral column). UMLS:C4020828 UMLS:C4280254 UMLS:C4280513 UMLS:C4280514 UMLS:C4280515 Increased density of spinal bone Ivory spinal bone human_phenotype Compact spinal bone Concrete spinal bone Dense spinal bone Eburnation of spinal bone Increased spinal bone density Z-score Sclerosis of spinal bone HP:0004563 Increased spinal bone density HP:0004563 Increased bone density affecting the bones of the spine (vertebral column). https://orcid.org/0000-0002-0736-9199 Increased density of spinal bone https://orcid.org/0000-0001-5889-4463 Ivory spinal bone https://orcid.org/0000-0001-5889-4463 Compact spinal bone https://orcid.org/0000-0001-5889-4463 Concrete spinal bone https://orcid.org/0000-0001-5889-4463 Dense spinal bone https://orcid.org/0000-0001-5889-4463 Eburnation of spinal bone https://orcid.org/0000-0001-5889-4463 Sclerosis of spinal bone https://orcid.org/0000-0001-5889-4463 true HP:0004564 HP:0004564 UMLS:C1850293 platyspondyly, extreme human_phenotype HP:0004565 Severe platyspondyly HP:0004565 Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. UMLS:C1866731 Pear-shaped vertebral bodies human_phenotype HP:0004566 Pear-shaped vertebrae HP:0004566 Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. PMID:16167086 https://orcid.org/0000-0002-0736-9199 true HP:0004567 Anterior tongue-like protrusions of the vertebral bodies. HP:0003313 HP:0003315 HP:0004569 HP:0004577 HP:0004584 HP:0005122 SNOMEDCT_US:19888007 UMLS:C0264112 UMLS:C1856599 Anterior beaking of vertebrae Anterior beaking of vertebral bodies Beaked vertebral bodies Vertebral tongue-like protrusion anterior beaking human_phenotype HP:0004568 Beaking of vertebral bodies HP:0004568 Anterior tongue-like protrusions of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 true HP:0004569 Increased top to bottom height of vertebral bodies. HP:0005693 UMLS:C1864853 Tall vertebral bodies human_phenotype HP:0004570 Increased vertebral height HP:0004570 Increased top to bottom height of vertebral bodies. https://orcid.org/0000-0002-0736-9199 UMLS:C3807591 human_phenotype HP:0004571 Widening of cervical spinal canal HP:0004571 true HP:0004572 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). UMLS:C4021652 Anterior wedging of the 11th thoracic vertebra Wedge-shaped 11th thoracic vertebra human_phenotype HP:0004573 Anterior wedging of T11 HP:0004573 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). https://orcid.org/0000-0002-0736-9199 true HP:0004574 UMLS:C1847394 human_phenotype HP:0004575 Fusion of midcervical facet joints HP:0004575 Sclerosis (increased density) affecting vertebral end plates. UMLS:C1859698 Endplate sclerosis human_phenotype HP:0004576 Sclerotic vertebral endplates HP:0004576 Sclerosis (increased density) affecting vertebral end plates. https://orcid.org/0000-0002-0736-9199 true HP:0004577 true HP:0004578 true HP:0004579 An excessive concavity of the anterior surface of one or more vertebral bodies. UMLS:C2673652 human_phenotype Anterior scalloping vertebral bodies HP:0004580 One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin. Anterior scalloping of vertebral bodies HP:0004580 An excessive concavity of the anterior surface of one or more vertebral bodies. https://orcid.org/0000-0002-0736-9199 UMLS:C1866732 human_phenotype HP:0004581 Increased anterior vertebral height HP:0004581 UMLS:C4025311 human_phenotype HP:0004582 Irregularity of vertebral bodies HP:0004582 true HP:0004583 true HP:0004584 true HP:0004585 Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. HP:0002952 HP:0004561 HP:0004620 UMLS:C1856087 Biconcave 'codfish' vertebrae Biconcave vertebrae Codfish vertebrae Fish vertebrae Scalloping of vertebral bodies human_phenotype HP:0004586 This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. Biconcave vertebral bodies HP:0004586 Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. https://orcid.org/0000-0002-0736-9199 true HP:0004587 true HP:0004588 UMLS:C4025310 human_phenotype HP:0004589 Dysplasia of second lumbar vertebra HP:0004589 A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5). UMLS:C1970816 Small sacrum human_phenotype HP:0004590 Hypoplastic sacrum HP:0004590 A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5). PMID:15350034 Small sacrum https://orcid.org/0000-0001-5208-3432 UMLS:C1835444 human_phenotype HP:0004591 Disc-like vertebral bodies HP:0004591 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine. UMLS:C1862428 human_phenotype HP:0004592 Thoracic platyspondyly HP:0004592 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine. https://orcid.org/0000-0002-0736-9199 true HP:0004593 UMLS:C1839252 human_phenotype HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate HP:0004594 true HP:0004595 true HP:0004596 true HP:0004597 Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. UMLS:C4025309 Supernumerary vertebral ossification centres human_phenotype HP:0004598 Supernumerary vertebral ossification centers HP:0004598 Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. https://orcid.org/0000-0002-0736-9199 Supernumerary vertebral ossification centres UMLS:C1832983 human_phenotype HP:0004599 Absent or minimally ossified vertebral bodies HP:0004599 true HP:0004600 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. UMLS:C4025308 human_phenotype HP:0004601 Spina bifida occulta at L5 HP:0004601 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin. https://orcid.org/0000-0002-0736-9199 Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. HP:0004636 SNOMEDCT_US:388981000 SNOMEDCT_US:5601008 UMLS:C0022738 Fusion of cervical vertebrae c2-3 Klippel-Feil anomaly Klippel-Feil syndrome human_phenotype HP:0004602 Cervical C2/C3 vertebral fusion HP:0004602 Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. https://orcid.org/0000-0002-0736-9199 UMLS:C4025307 human_phenotype HP:0004603 Hyperconvex vertebral body endplates HP:0004603 true HP:0004604 A lack of bone mineralization of the vertebral bodies. UMLS:C1860191 human_phenotype HP:0004605 Absent vertebral body mineralization HP:0004605 A lack of bone mineralization of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 A lack of ossification of the vertebral bodies. HP:0008427 UMLS:C1860202 human_phenotype HP:0004606 Unossified vertebral bodies HP:0004606 A lack of ossification of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 Anterior tongue-like protrusions of the lower thoracic vertebral bodies. UMLS:C4025306 human_phenotype HP:0004607 Anterior beaking of lower thoracic vertebrae HP:0004607 Anterior tongue-like protrusions of the lower thoracic vertebral bodies. https://orcid.org/0000-0002-0736-9199 Anterior mislocalization of the dens of the axis. UMLS:C1844512 human_phenotype HP:0004608 Anteriorly placed odontoid process HP:0004608 Anterior mislocalization of the dens of the axis. https://orcid.org/0000-0002-0736-9199 UMLS:C4025305 human_phenotype HP:0004609 Patchy distortion of vertebrae HP:0004609 An abnormal narrowing of the lumbar spinal canal. SNOMEDCT_US:18347007 UMLS:C0158288 Lumbar spinal stenosis Narrow lumbar spinal canal human_phenotype HP:0004610 Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). Lumbar spinal canal stenosis HP:0004610 An abnormal narrowing of the lumbar spinal canal. PMID:3160275 https://orcid.org/0000-0002-0736-9199 UMLS:C1839822 Anteriorly concave vertebrae human_phenotype HP:0004611 Anterior concavity of thoracic vertebrae HP:0004611 true HP:0004612 true HP:0004613 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. UMLS:C4025304 human_phenotype HP:0004614 Spina bifida occulta at S1 HP:0004614 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin. https://orcid.org/0000-0002-0736-9199 true HP:0004615 A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. UMLS:C1859458 human_phenotype Cleft vertebral arches HP:0004616 Cleft vertebral arch HP:0004616 A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. https://orcid.org/0000-0002-0736-9199 Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. UMLS:C1861627 human_phenotype HP:0004617 Butterfly vertebral arch HP:0004617 Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. https://orcid.org/0000-0002-0736-9199 UMLS:C1850134 human_phenotype HP:0004618 Sandwich appearance of vertebral bodies HP:0004618 UMLS:C1834953 human_phenotype HP:0004619 Lumbar kyphoscoliosis HP:0004619 true HP:0004620 Increased size of the vertebral pedicle. UMLS:C4025303 Hyperplastic vertebral pedicles human_phenotype HP:0004621 The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch. Enlarged vertebral pedicles HP:0004621 Increased size of the vertebral pedicle. https://orcid.org/0000-0002-0736-9199 A progressive form of decreased height of the intervertebral disk. UMLS:C1837670 human_phenotype HP:0004622 Progressive intervertebral space narrowing HP:0004622 A progressive form of decreased height of the intervertebral disk. https://orcid.org/0000-0002-0736-9199 true HP:0004623 true HP:0004624 Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. UMLS:C1866675 human_phenotype HP:0004625 Note that biconvex vertebral bodies can be a normal finding in newborns. Biconvex vertebral bodies HP:0004625 Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. https://orcid.org/0000-0002-0736-9199 UMLS:C2748518 human_phenotype HP:0004626 Lumbar scoliosis HP:0004626 true HP:0004627 true HP:0004628 Reduced size of cervical vertebrae. HP:0008429 UMLS:C1851130 Small cervical vertebrae human_phenotype HP:0004629 Small cervical vertebral bodies HP:0004629 Reduced size of cervical vertebrae. https://orcid.org/0000-0002-0736-9199 Anterior tongue-like protrusions of thoracic vertebral bodies. UMLS:C4025302 human_phenotype HP:0004630 Anterior beaking of thoracic vertebrae HP:0004630 Anterior tongue-like protrusions of thoracic vertebral bodies. https://orcid.org/0000-0002-0736-9199 Inability to touch chin to chest UMLS:C1839653 UMLS:C4280512 Contracture of post-cervical muscles human_phenotype HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles HP:0004631 Inability to touch chin to chest https://orcid.org/0000-0001-5889-4463 An abnormality related to a defect of vertebral separation of cervical vertebrae during development. HP:0004612 UMLS:C1862415 Cervical spine segmentation defect human_phenotype HP:0004632 Cervical segmentation defect HP:0004632 An abnormality related to a defect of vertebral separation of cervical vertebrae during development. https://orcid.org/0000-0002-0736-9199 Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. UMLS:C1864361 Round mid-back human_phenotype HP:0004633 Lower thoracic kyphosis HP:0004633 Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. https://orcid.org/0000-0002-0736-9199 Round mid-back https://orcid.org/0000-0001-6908-9849 UMLS:C2673653 Cuboid vertebral bodies human_phenotype HP:0004634 Cuboid-shaped vertebral bodies HP:0004634 Fusion of the C5 and C6 cervical vertebrae. UMLS:C4025301 human_phenotype HP:0004635 Cervical C5/C6 vertebrae fusion HP:0004635 Fusion of the C5 and C6 cervical vertebrae. https://orcid.org/0000-0002-0736-9199 true HP:0004636 UMLS:C1859692 Limited neck movement human_phenotype HP:0004637 Decreased cervical spine mobility HP:0004637 Limited neck movement https://orcid.org/0000-0001-6908-9849 true HP:0004638 An elevation of alpha-feto protein measured in the amniotic fluid. HP:0005985 UMLS:C1839860 Elevated amniotic fluid alpha fetal protein Elevated amniotic fluid alpha foetal protein Elevated amniotic fluid alpha-1-fetoprotein Elevated amniotic fluid alpha-fetoglobulin human_phenotype HP:0004639 This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. Elevated amniotic fluid alpha-fetoprotein concentration HP:0004639 An elevation of alpha-feto protein measured in the amniotic fluid. https://orcid.org/0000-0002-0736-9199 Elevated amniotic fluid alpha fetal protein https://en.wikipedia.org/wiki/alpha-fetoprotein https://orcid.org/0000-0001-5208-3432 Elevated amniotic fluid alpha foetal protein Elevated amniotic fluid alpha-1-fetoprotein https://en.wikipedia.org/wiki/alpha-fetoprotein https://orcid.org/0000-0001-5208-3432 Elevated amniotic fluid alpha-fetoglobulin https://en.wikipedia.org/wiki/alpha-fetoprotein https://orcid.org/0000-0001-5208-3432 true HP:0004640 true HP:0004641 true HP:0004642 true HP:0004643 true HP:0004644 true HP:0004645 Underdevelopment of the nasal bone. Small nasal bone UMLS:C4021651 Decreased size of nasal bone Deficiency of nasal bone Nasal bone hypoplasia Underdevelopment of nasal bone human_phenotype Hypotrophic nasal bone HP:0004646 Hypoplasia of the nasal bone HP:0004646 Underdevelopment of the nasal bone. https://orcid.org/0000-0002-0736-9199 Small nasal bone https://orcid.org/0000-0001-5889-4463 Decreased size of nasal bone https://orcid.org/0000-0001-5889-4463 Deficiency of nasal bone https://orcid.org/0000-0001-5889-4463 Underdevelopment of nasal bone https://orcid.org/0000-0001-5889-4463 Hypotrophic nasal bone https://orcid.org/0000-0001-5889-4463 true HP:0004647 true HP:0004648 true HP:0004649 true HP:0004650 true HP:0004651 true HP:0004652 true HP:0004653 true HP:0004654 true HP:0004655 true HP:0004656 true HP:0004657 true HP:0004658 true HP:0004659 Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). Small facial muscles UMLS:C1834042 UMLS:C4280509 UMLS:C4280510 UMLS:C4280511 Decreased size of facial muscles Deficiency of facial musculature Underdevelopment of facial muscles human_phenotype Atrophy of facial musculature Hypotrophic facial musculature HP:0004660 Hypoplasia of facial musculature HP:0004660 Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Small facial muscles https://orcid.org/0000-0001-5889-4463 Decreased size of facial muscles https://orcid.org/0000-0001-5889-4463 Deficiency of facial musculature https://orcid.org/0000-0001-5889-4463 Underdevelopment of facial muscles https://orcid.org/0000-0001-5889-4463 Atrophy of facial musculature https://orcid.org/0000-0001-5889-4463 Hypotrophic facial musculature https://orcid.org/0000-0001-5889-4463 Reduced strength of the frontalis muscle (which is located on the forehead). UMLS:C1859438 Weak frontalis muscle Weakness of forehead muscle human_phenotype HP:0004661 Frontalis muscle weakness HP:0004661 Reduced strength of the frontalis muscle (which is located on the forehead). https://orcid.org/0000-0002-0736-9199 Weakness of forehead muscle https://orcid.org/0000-0001-5889-4463 true HP:0004662 true HP:0004663 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. UMLS:C1862496 human_phenotype HP:0004664 Facial midline hemangioma HP:0004664 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. https://orcid.org/0000-0002-0736-9199 true HP:0004665 true HP:0004666 true HP:0004667 true HP:0004668 true HP:0004669 true HP:0004670 true HP:0004671 true HP:0004672 A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. UMLS:C1862474 Decreased facial expression human_phenotype HP:0004673 Decreased facial expression HP:0004673 A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. https://orcid.org/0000-0002-0736-9199 Decreased facial expression true HP:0004674 true HP:0004675 UMLS:C1834993 human_phenotype HP:0004676 Prominent supraorbital arches in adult HP:0004676 true HP:0004677 true HP:0004678 UMLS:C1859116 Large ankle bones human_phenotype HP:0004679 Large tarsal bones HP:0004679 Large ankle bones https://orcid.org/0000-0001-6908-9849 true HP:0004680 Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. Foot crease UMLS:C1859223 UMLS:C4280508 Longitudinal groove on soles human_phenotype HP:0004681 Deep longitudinal plantar crease HP:0004681 Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. PMID:19125433 Foot crease https://orcid.org/0000-0001-6908-9849 true HP:0004682 true HP:0004683 Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. SNOMEDCT_US:79807003 UMLS:C0152236 human_phenotype HP:0004684 The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). Talipes valgus HP:0004684 Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. https://orcid.org/0000-0002-0736-9199 true HP:0004685 Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. HP:0010673 UMLS:C4021650 Hypoplasia of the 3rd metatarsal bone Short 3rd long bone of foot human_phenotype HP:0004686 Short third metatarsal HP:0004686 Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. https://orcid.org/0000-0002-0736-9199 Short 3rd long bone of foot https://orcid.org/0000-0001-5208-3432 true HP:0004687 UMLS:C1855240 Abnormal shape of ankle bones human_phenotype HP:0004688 Irregular tarsal bones HP:0004688 Abnormal shape of ankle bones https://orcid.org/0000-0001-6908-9849 Short fourth metatarsal bone. UMLS:C1848514 Bilateral fourth metatarsal shortening Short 4th long bone of foot Short fourth metatarsus human_phenotype Short fourth metatarsals HP:0004689 Short fourth metatarsal HP:0004689 Short fourth metatarsal bone. https://orcid.org/0000-0002-0736-9199 Short 4th long bone of foot https://orcid.org/0000-0001-5208-3432 Short fourth metatarsals https://orcid.org/0000-0002-5316-1399 An abnormal thickening of the Achilles tendon. UMLS:C0919997 Thickened Achilles tendon human_phenotype HP:0004690 Thickened Achilles tendon HP:0004690 An abnormal thickening of the Achilles tendon. https://orcid.org/0000-0002-0736-9199 Thickened Achilles tendon Syndactyly with fusion of toes two and three. HP:0001846 HP:0001856 HP:0003773 HP:0004683 HP:0004685 HP:0004697 HP:0004703 HP:0008086 HP:0008123 SNOMEDCT_US:205145001 UMLS:C0432040 2-3 syndactyly of feet 2-3 toe soft tissue syndactyly 2-3 toes syndactyly Syndactyly of second and third toes Toe syndactyly, 2-3 Webbed 2nd and 3rd toes partial or complete syndactyly 2nd-3rd toes human_phenotype HP:0004691 2-3 toe syndactyly HP:0004691 Syndactyly with fusion of toes two and three. https://orcid.org/0009-0006-4530-3154 Toe syndactyly, 2-3 https://orcid.org/0000-0002-5316-1399 Webbed 2nd and 3rd toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes four and five. HP:0005826 HP:0005861 UMLS:C1837836 Symmetric syndactyly, toes 4 and 5 Syndactyly of toes 4 and 5 Webbed 4th-5th toes human_phenotype HP:0004692 4-5 toe syndactyly HP:0004692 Syndactyly with fusion of toes four and five. https://orcid.org/0009-0006-4530-3154 Webbed 4th-5th toes https://orcid.org/0000-0001-5208-3432 true HP:0004693 true HP:0004694 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. UMLS:C1861708 human_phenotype HP:0004695 Calcaneal epiphyseal stippling HP:0004695 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. https://orcid.org/0000-0002-0736-9199 UMLS:C1832342 human_phenotype HP:0004696 Talipes cavus equinovarus HP:0004696 true HP:0004697 true HP:0004698 Decrease in mass and density of the metatarsal bones. UMLS:C1836873 human_phenotype HP:0004699 Osteoporotic metatarsal HP:0004699 Decrease in mass and density of the metatarsal bones. https://orcid.org/0000-0002-0736-9199 true HP:0004700 true HP:0004701 true HP:0004702 true HP:0004703 Short (hypoplastic) fifth metatarsal bone. HP:0004702 HP:0010671 UMLS:C4021649 Hypoplasia of the fifth metatarsal bone Short 5th long bone of foot human_phenotype HP:0004704 Short fifth metatarsal HP:0004704 Short (hypoplastic) fifth metatarsal bone. https://orcid.org/0000-0002-0736-9199 Short 5th long bone of foot https://orcid.org/0000-0001-5208-3432 true HP:0004705 true HP:0004706 true HP:0004707 true HP:0004708 true HP:0004709 true HP:0004710 true HP:0004711 An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. HP:0004730 SNOMEDCT_US:49008000 UMLS:C0238210 Abnormal rotation of the kidneys Malrotation of the kidney human_phenotype HP:0004712 The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. Renal malrotation HP:0004712 An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. https://orcid.org/0000-0002-0736-9199 Abnormal rotation of the kidneys Acute renal failure with resolution of manifestations. UMLS:C1843276 Reversible kidney failure Reversible renal failure human_phenotype HP:0004713 Reversible renal failure HP:0004713 Acute renal failure with resolution of manifestations. https://orcid.org/0000-0002-0736-9199 Reversible kidney failure https://orcid.org/0000-0001-6908-9849 Reversible renal failure true HP:0004714 true HP:0004715 true HP:0004716 An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. UMLS:C4025300 human_phenotype HP:0004717 Axial malrotation of the kidney HP:0004717 An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. https://orcid.org/0000-0002-0736-9199 true HP:0004718 An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. UMLS:C3275899 Echogenic kidneys Increased echogenicity of the renal parenchyma human_phenotype HP:0004719 Normal renal parenchyma is similar (isoechoic) or slightly darker (hypoechoic) compared with liver and includes the cortex and medulla. The thickness of the renal cortex is measured from the outer border of the medullary pyramids (yellow line) or from the arcuate arteries to the renal capsule. The medullary pyramids (white arrow) contain fluid in parallel tubules, which is anechoic (black) and appear as regularly spaced dark pools at the inner margin of the parenchyma (arrow). Because fat is echogenic, the central renal sinus appears bright. Hyperechogenic kidneys HP:0004719 An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. PMID:2259758 PMID:24235286 https://orcid.org/0000-0002-0736-9199 true HP:0004720 true HP:0004721 Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. SNOMEDCT_US:264932002 UMLS:C0445347 Thickening of the glomerular basement membrane human_phenotype HP:0004722 This finding is demonstrated on renal biopsy. Thickened glomerular basement membrane HP:0004722 Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. https://orcid.org/0000-0002-0736-9199 true HP:0004723 The presence of calcium-containing calculi (stones) in the kidneys. UMLS:C1855801 Ca kidney stone Ca nephrolithiasis Ca2+ kidney stone Ca2+ nephrolithiasis Calcium kidney stone human_phenotype HP:0004724 The overwhelming majority of renal calculi contain calcium. Calcium nephrolithiasis HP:0004724 The presence of calcium-containing calculi (stones) in the kidneys. https://orcid.org/0000-0002-0736-9199 Ca kidney stone Ca nephrolithiasis Ca2+ kidney stone Ca2+ nephrolithiasis Calcium kidney stone https://orcid.org/0000-0001-6908-9849 true HP:0004725 true HP:0004726 A defect in the ability to concentrate the urine. HP:0005568 UMLS:C1859819 Urine concentrating defect Urine concentration defect human_phenotype HP:0004727 An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. Impaired renal concentrating ability HP:0004727 A defect in the ability to concentrate the urine. https://orcid.org/0000-0002-0736-9199 true HP:0004728 Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. UMLS:C1843274 human_phenotype HP:0004729 Acute tubulointerstitial nephritis HP:0004729 Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. https://orcid.org/0000-0002-0736-9199 true HP:0004730 true HP:0004731 A reduction in the ability of the kidneys to remove uric acid from the serum. UMLS:C1969371 Uric acid fractional excretion decreased human_phenotype HP:0004732 Impaired renal uric acid clearance HP:0004732 A reduction in the ability of the kidneys to remove uric acid from the serum. https://orcid.org/0000-0002-0736-9199 true HP:0004733 Cysts of microscopic size confined to the cortex of the kidney. HP:0000814 UMLS:C1865877 Cortical microcysts Multiple renal cortical microcysts Multiple small renal cortical cysts human_phenotype HP:0004734 Renal cortical microcysts HP:0004734 Cysts of microscopic size confined to the cortex of the kidney. HPO_CONTRIBUTOR:Eurenomics_ewuehl true HP:0004735 A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. UMLS:C1835796 Crossed-fused renal ectopia Ectopic kidney with fusion human_phenotype HP:0004736 Crossed fused renal ectopia HP:0004736 A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. https://orcid.org/0000-0002-0736-9199 Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. UMLS:C1865276 human_phenotype HP:0004737 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Global glomerulosclerosis HP:0004737 Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. HPO_CONTRIBUTOR:Eurenomics_ewuehl https://orcid.org/0000-0003-2356-950X true HP:0004738 true HP:0004739 true HP:0004740 true HP:0004741 An abnormality of the renal collecting system. HP:0004731 UMLS:C1851303 Abnormal collecting system Abnormality of the renal collecting system Renal collecting system anomalies human_phenotype HP:0004742 Abnormal renal collecting system morphology HP:0004742 An abnormality of the renal collecting system. https://orcid.org/0000-0002-0736-9199 Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. SNOMEDCT_US:60926001 UMLS:C0238304 human_phenotype HP:0004743 Chronic tubulointerstitial nephritis HP:0004743 Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. https://orcid.org/0000-0002-0736-9199 true HP:0004744 true HP:0004745 Electron dense deposits at the glomerular basement membrane, SNOMEDCT_US:59479006 UMLS:C0268743 human_phenotype Dense deposit disease Membranoproliferative glomerulonephritis type II HP:0004746 Subendothelial electron-dense deposits are a characteristic feature of dense-deposit disease. Glomerular subendothelial electron-dense deposits HP:0004746 Electron dense deposits at the glomerular basement membrane, HPO_CONTRIBUTOR:Eurenomics_ewuehl PMID:20301598 PMID:30085237 true HP:0004747 true HP:0004748 A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. SNOMEDCT_US:5370000 UMLS:C0004239 human_phenotype HP:0004749 Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. Atrial flutter HP:0004749 A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. https://orcid.org/0000-0002-0736-9199 true HP:0004750 Episodes of ventricular tachycardia that have a sudden onset and ending. HP:0005141 SNOMEDCT_US:66657009 UMLS:C0030591 Episodes of ventricular tachycardia human_phenotype HP:0004751 Paroxysmal ventricular tachycardia HP:0004751 A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. UMLS:C4025299 human_phenotype HP:0004752 Congenital atrioventricular dissociation HP:0004752 A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0004753 Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. SNOMEDCT_US:426749004 SNOMEDCT_US:440028005 UMLS:C0694539 UMLS:C2586056 human_phenotype Chronic atrial fibrillation HP:0004754 The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. Permanent atrial fibrillation HP:0004754 Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. PMID:12860883 https://orcid.org/0000-0002-0736-9199 Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. SNOMEDCT_US:6456007 UMLS:C0039240 UMLS:C1698480 SVT Supraventricular tachyarrhythmia human_phenotype HP:0004755 A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. Supraventricular tachycardia HP:0004755 Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 SVT A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Fyler:7160 SNOMEDCT_US:25569003 UMLS:C0042514 human_phenotype HP:0004756 Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease. Ventricular tachycardia HP:0004756 Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. SNOMEDCT_US:282825002 UMLS:C0235480 Atrial fibrillation, paroxysmal Intermittent atrial fibrillation Paroxysmal AF human_phenotype HP:0004757 Paroxysmal atrial fibrillation HP:0004757 Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. PMID:30571060 https://orcid.org/0000-0002-0736-9199 Atrial fibrillation, paroxysmal https://orcid.org/0000-0002-5316-1399 Paroxysmal AF Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. UMLS:C4025298 Catecholaminergic polymorphic ventricular tachycardia Exercise-induced polymorphic ventricular tachycardia human_phenotype HP:0004758 Effort-induced polymorphic ventricular tachycardia HP:0004758 Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. PMID:15913575 HP:0004380 human_phenotype HP:0004759 obsolete Nodular calcific aortic valve disease true HP:0004759 HP:0001671 human_phenotype HP:0004760 obsolete Congenital septal defect true HP:0004760 UMLS:C2676505 human_phenotype HP:0004761 Post-angioplasty coronary artery restenosis HP:0004761 Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. HP:0004951 Fyler:1821 UMLS:C4082954 Heart right ventricle hypoplasia Small right heart chamber Underdeveloped right heart chamber human_phenotype HP:0004762 Hypoplasia of right ventricle HP:0004762 Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. MP:0010422 Heart right ventricle hypoplasia https://orcid.org/0000-0001-5208-3432 Small right heart chamber https://orcid.org/0000-0001-6908-9849 Underdeveloped right heart chamber https://orcid.org/0000-0001-6908-9849 An episodic form of supraventricular tachycardia with abrupt onset and termination. HP:0004765 Episodic rapid heart beat SNOMEDCT_US:67198005 UMLS:C0030590 UMLS:C4280507 Episodic supraventricular tachycardia PSVT human_phenotype HP:0004763 PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). Paroxysmal supraventricular tachycardia HP:0004763 An episodic form of supraventricular tachycardia with abrupt onset and termination. PMID:18025404 Episodic rapid heart beat https://orcid.org/0000-0001-6908-9849 PSVT Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. SNOMEDCT_US:253395003 SNOMEDCT_US:42069006 UMLS:C0264885 human_phenotype HP:0004764 Myxomatous mitral valve degeneration HP:0004764 Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. PMID:21143934 https://orcid.org/0000-0002-0736-9199 true HP:0004765 true HP:0004766 true HP:0004767 Decreased number of head hairs per unit area on the anterior region of the scalp. UMLS:C1866246 Sparse scalp hair at front of head Thin scalp hair at front of head human_phenotype HP:0004768 Sparse anterior scalp hair HP:0004768 Decreased number of head hairs per unit area on the anterior region of the scalp. https://orcid.org/0000-0002-0736-9199 Sparse scalp hair at front of head https://orcid.org/0000-0001-5889-4463 Thin scalp hair at front of head https://orcid.org/0000-0001-5889-4463 true HP:0004769 true HP:0004770 UMLS:C1849125 Premature graying of body hair Premature greying of body hair human_phenotype HP:0004771 Premature graying of body hair HP:0004771 Premature graying of body hair Premature greying of body hair true HP:0004772 true HP:0004773 true HP:0004774 true HP:0004775 true HP:0004776 true HP:0004777 true HP:0004778 Fragile, easily breakable scalp hair. HP:0004776 UMLS:C4025296 Brittle scalp hair human_phenotype HP:0004779 Brittle scalp hair HP:0004779 Fragile, easily breakable scalp hair. https://orcid.org/0000-0003-1773-4011 Brittle scalp hair Excessive, increased hair growth located in the elbow region. UMLS:C4025295 Hairy elbow Hairy elbow syndrome Hypertrichosis cubiti Pilosity of elbow human_phenotype HP:0004780 Elbow hypertrichosis HP:0004780 Excessive, increased hair growth located in the elbow region. https://orcid.org/0000-0002-0736-9199 Hairy elbow https://orcid.org/0000-0001-6908-9849 Hairy elbow syndrome https://orcid.org/0000-0001-6908-9849 Hypertrichosis cubiti https://orcid.org/0000-0001-6908-9849 Pilosity of elbow PMID:32005960 true HP:0004781 HP:0002209 human_phenotype HP:0004782 obsolete Hypotrichosis of the scalp true HP:0004782 Presence of multiple polyps in the duodenum. SNOMEDCT_US:301797007 UMLS:C0578477 Multiple duodenal polyps human_phenotype HP:0004783 Duodenal polyposis HP:0004783 Presence of multiple polyps in the duodenum. https://orcid.org/0000-0002-0736-9199 The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. UMLS:C4025294 Juvenile GI polyposis human_phenotype HP:0004784 Juvenile gastrointestinal polyposis HP:0004784 The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. PMID:25022750 https://orcid.org/0000-0002-0736-9199 Juvenile GI polyposis An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. SNOMEDCT_US:6477005 UMLS:C0266196 human_phenotype HP:0004785 Malrotation of colon HP:0004785 An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. https://orcid.org/0000-0002-0736-9199 UMLS:C4025293 human_phenotype HP:0004786 Jejunal diverticula HP:0004786 Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. SNOMEDCT_US:427044009 UMLS:C0302809 human_phenotype HP:0004787 Note that different definitions of fulminant hepatitis are used in the medical literature. Fulminant hepatitis HP:0004787 Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. PMID:18825677 https://orcid.org/0000-0002-0736-9199 Fluid retention and edema in the intestine caused by a compromised lymphatic system. UMLS:C4025292 human_phenotype HP:0004788 Intestinal lymphedema HP:0004788 Fluid retention and edema in the intestine caused by a compromised lymphatic system. https://orcid.org/0000-0002-0736-9199 An inability to digest lactose. SNOMEDCT_US:267425008 SNOMEDCT_US:700094005 UMLS:C0022951 Lactose intolerance Milk intolerance human_phenotype HP:0004789 Lactose intolerance HP:0004789 An inability to digest lactose. https://orcid.org/0000-0002-0736-9199 Lactose intolerance Milk intolerance https://orcid.org/0000-0001-6908-9849 Underdevelopment of the small intestine. UMLS:C4025291 Underdeveloped small intestine human_phenotype HP:0004790 Hypoplasia of the small intestine HP:0004790 Underdevelopment of the small intestine. https://orcid.org/0000-0002-0736-9199 Underdeveloped small intestine https://orcid.org/0000-0001-6908-9849 Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. SNOMEDCT_US:30811009 UMLS:C0151970 Esophagus ulcer Oesophagus ulcer Oesophagus ulceration human_phenotype HP:0004791 Esophageal ulceration HP:0004791 Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. https://orcid.org/0000-0002-0736-9199 Esophagus ulcer https://orcid.org/0000-0001-6908-9849 Oesophagus ulcer Oesophagus ulceration https://orcid.org/0000-0001-6908-9849 The presence of a fistula between the perineum and the rectum. UMLS:C0240880 human_phenotype HP:0004792 Rectoperineal fistula HP:0004792 The presence of a fistula between the perineum and the rectum. https://orcid.org/0000-0002-0736-9199 true HP:0004793 A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. UMLS:C1860244 Malrotation of the small intestine human_phenotype HP:0004794 Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. Malrotation of small bowel HP:0004794 A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. https://orcid.org/0000-0002-0736-9199 Polyp-like protrusions which are histologically hamartomas located in the stomach. UMLS:C1862304 human_phenotype HP:0004795 Hamartomatous stomach polyps HP:0004795 Polyp-like protrusions which are histologically hamartomas located in the stomach. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:126765001 UMLS:C0236124 GI obstruction Gastrointestinal obstruction Obstruction in digestive tract human_phenotype HP:0004796 Gastrointestinal obstruction HP:0004796 GI obstruction Gastrointestinal obstruction Obstruction in digestive tract https://orcid.org/0000-0001-5208-3432 The presence of multiple areas of atresia affecting the small intestine. UMLS:C1857476 human_phenotype HP:0004797 Multiple small bowel atresias HP:0004797 The presence of multiple areas of atresia affecting the small intestine. https://orcid.org/0000-0002-0736-9199 Recurrent infection of the gastrointestinal tract. SNOMEDCT_US:715852004 UMLS:C1854495 UMLS:C4082764 Recurrent gastrointestinal infections Recurrent infection of the GI tract Recurrent infection of the gastrointestinal tract human_phenotype Gastrointestinal infections Gastrointestinal infections, recurrent HP:0004798 Recurrent infection of the gastrointestinal tract HP:0004798 Recurrent infection of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 Recurrent gastrointestinal infections Recurrent infection of the GI tract Recurrent infection of the gastrointestinal tract Gastrointestinal infections Gastrointestinal infections, recurrent https://orcid.org/0000-0002-5316-1399 UMLS:C4025290 human_phenotype HP:0004799 Jejunoileal diverticula HP:0004799 SNOMEDCT_US:197083003 UMLS:C0341266 human_phenotype HP:0004800 Duodenal diverticula HP:0004800 true HP:0004801 A form of hemolytic anemia that occurs in repeated episodes. UMLS:C1859495 Episodic hemolysis Episodic hemolytic anaemia human_phenotype HP:0004802 Episodic hemolytic anemia HP:0004802 A form of hemolytic anemia that occurs in repeated episodes. https://orcid.org/0000-0002-0736-9199 Episodic hemolytic anaemia true HP:0004803 A form of hemolytic anemia with congenital onset. HP:0004811 HP:0004824 SNOMEDCT_US:38911009 SNOMEDCT_US:42601008 UMLS:C0002881 UMLS:C4020827 Congenital haemolytic anaemia Congenital haemolytic anemia Congenital hemolytic anaemia human_phenotype Neonatal hemolytic anaemia Neonatal hemolytic anemia HP:0004804 Congenital hemolytic anemia HP:0004804 A form of hemolytic anemia with congenital onset. https://orcid.org/0000-0002-0736-9199 Congenital haemolytic anaemia Congenital hemolytic anaemia Neonatal hemolytic anaemia true HP:0004805 true HP:0004806 true HP:0004807 A form of leukemia characterized by overproduction of an early myeloid cell. HP:0001914 HP:0004843 HP:0005516 HP:0006724 HP:0006728 SNOMEDCT_US:17788007 SNOMEDCT_US:413443009 SNOMEDCT_US:91861009 UMLS:C0023467 AML Acute myeloblastic leukaemia Acute myeloblastic leukemia Acute myelocytic leukaemia Acute myelocytic leukemia Acute myelogenous leukaemia Acute myelogenous leukemia Acute myeloid leukaemia human_phenotype HP:0004808 Acute myeloid leukemia HP:0004808 A form of leukemia characterized by overproduction of an early myeloid cell. https://orcid.org/0000-0002-0736-9199 AML Acute myeloblastic leukaemia Acute myelocytic leukaemia Acute myelogenous leukaemia Acute myeloid leukaemia Low platelet count associated with maternal platelet-specific alloantibodies. SNOMEDCT_US:240305000 UMLS:C3853779 human_phenotype HP:0004809 Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. Neonatal alloimmune thrombocytopenia HP:0004809 Low platelet count associated with maternal platelet-specific alloantibodies. https://orcid.org/0000-0002-0736-9199 A type of hypoplastic anemia with congenital onset. HP:0005545 SNOMEDCT_US:234371002 SNOMEDCT_US:52951008 SNOMEDCT_US:88854002 UMLS:C0002876 UMLS:C1260899 Congenital dyserythropoietic anaemia Congenital dyserythropoietic anemia Congenital hypoplastic anaemia human_phenotype HP:0004810 In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. Congenital hypoplastic anemia HP:0004810 A type of hypoplastic anemia with congenital onset. https://orcid.org/0000-0002-0736-9199 Congenital dyserythropoietic anaemia Congenital hypoplastic anaemia true HP:0004811 A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. B Acute Lymphoblastic Leukaemia Pre-B-cell acute lymphoblastic leukaemia Pre-B-cell acute lymphoblastic leukemia human_phenotype HP:0004812 B Acute Lymphoblastic Leukemia HP:0004812 A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood. NCIT:C8644 B Acute Lymphoblastic Leukaemia Pre-B-cell acute lymphoblastic leukaemia Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. SNOMEDCT_US:73162004 UMLS:C0398648 UMLS:C1868252 human_phenotype Post-transfusion purpura HP:0004813 Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. Post-transfusion thrombocytopenia HP:0004813 Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages. https://orcid.org/0000-0002-4381-2442 A kind of hemolytic anemia that is induced by the ingestion of fava beans. UMLS:C4021648 Fava bean-induced hemolytic anaemia Hemolytic anaemia following ingestion of fava beans Hemolytic anemia following ingestion of fava beans human_phenotype HP:0004814 Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compounds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. Fava bean-induced hemolytic anemia HP:0004814 A kind of hemolytic anemia that is induced by the ingestion of fava beans. https://orcid.org/0000-0002-0736-9199 Fava bean-induced hemolytic anaemia Hemolytic anaemia following ingestion of fava beans true HP:0004815 true HP:0004816 A form of hemolytic anemia that is triggered by ingestion of certain drugs. UMLS:C4025289 Drug-sensitive hemolytic anaemia human_phenotype HP:0004817 Drug-sensitive hemolytic anemia HP:0004817 A form of hemolytic anemia that is triggered by ingestion of certain drugs. https://orcid.org/0000-0002-0736-9199 Drug-sensitive hemolytic anaemia SNOMEDCT_US:1963002 UMLS:C0024790 Paroxysmal nocturnal haemoglobinuria human_phenotype HP:0004818 Paroxysmal nocturnal hemoglobinuria HP:0004818 Paroxysmal nocturnal haemoglobinuria https://orcid.org/0000-0001-5208-3432 A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). UMLS:C1835875 Normocytic hypoplastic anaemia human_phenotype HP:0004819 Normocytic hypoplastic anemia HP:0004819 A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). https://orcid.org/0000-0002-0736-9199 Normocytic hypoplastic anaemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. SNOMEDCT_US:110005000 SNOMEDCT_US:277601005 SNOMEDCT_US:30962008 UMLS:C0023479 Acute myelomonocytic leukaemia human_phenotype HP:0004820 Acute myelomonocytic leukemia HP:0004820 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. NCIT:C7463 Acute myelomonocytic leukaemia An excessive division of the lobes of the nucleus of a neutrophil. UMLS:C4025288 Hypermature neutrophils Hypersegmentation of neutrophil nuclei in peripheral blood human_phenotype HP:0004821 Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. Hypersegmentation of neutrophil nuclei HP:0004821 An excessive division of the lobes of the nucleus of a neutrophil. https://orcid.org/0000-0002-0736-9199 Hypersegmentation of neutrophil nuclei in peripheral blood https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-8169-9049 UMLS:C1857010 human_phenotype HP:0004822 Atypical elliptocytosis HP:0004822 A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. UMLS:C2675920 human_phenotype HP:0004823 Anisopoikilocytosis HP:0004823 A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. https://orcid.org/0000-0002-0736-9199 true HP:0004824 An abnormal increase in the binding affinity of hemoglobin for oxygen. UMLS:C4021647 Increased Hb O2 affinity Increased Hb oxygen affinity Increased haemoglobin O2 affinity Increased hemoglobin O2 affinity Increased hemoglobin oxygen affinity human_phenotype HP:0004825 Increased hemoglobin oxygen affinity HP:0004825 An abnormal increase in the binding affinity of hemoglobin for oxygen. https://orcid.org/0000-0002-0736-9199 Increased Hb O2 affinity Increased Hb oxygen affinity Increased haemoglobin O2 affinity Increased hemoglobin O2 affinity A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. UMLS:C4025287 Folate-unresponsive megaloblastic anaemia human_phenotype HP:0004826 Folate-unresponsive megaloblastic anemia HP:0004826 A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. https://orcid.org/0000-0002-0736-9199 Folate-unresponsive megaloblastic anaemia true HP:0004827 A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. ICD-O:M9982/3 SNOMEDCT_US:109998009 SNOMEDCT_US:128846006 UMLS:C1264195 Myelodysplasia with sideroblastosis Refractory anaemia with ringed sideroblasts human_phenotype HP:0004828 Refractory anemia with ringed sideroblasts HP:0004828 A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. https://orcid.org/0000-0002-0736-9199 ICD-O:M9982/3 Refractory anemia with ringed sideroblasts Refractory anaemia with ringed sideroblasts true HP:0004829 true HP:0004830 Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. UMLS:C0749398 UMLS:C4025286 human_phenotype Recurrent thromboembolic disease HP:0004831 Recurrent thromboembolism HP:0004831 Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. https://orcid.org/0000-0002-0736-9199 true HP:0004832 true HP:0004833 true HP:0004834 The presence of erythrocytes that are sphere-shaped and reduced in size. UMLS:C4025285 human_phenotype HP:0004835 Microspherocytosis HP:0004835 The presence of erythrocytes that are sphere-shaped and reduced in size. https://orcid.org/0000-0002-0736-9199 A type of acute myeloid leukemia in which abnormal promyelocytes predominate. SNOMEDCT_US:110004001 SNOMEDCT_US:28950004 UMLS:C0023487 Acute promyelocytic leukaemia human_phenotype HP:0004836 Acute promyelocytic leukemia HP:0004836 A type of acute myeloid leukemia in which abnormal promyelocytes predominate. https://orcid.org/0000-0002-0736-9199 Acute promyelocytic leukaemia true HP:0004837 true HP:0004838 A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. HP:0004805 SNOMEDCT_US:9434008 UMLS:C0520739 hereditary pyropoikilocytosis human_phenotype HP:0004839 Pyropoikilocytosis HP:0004839 A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. PMID:16304353 https://orcid.org/0000-0002-0736-9199 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. HP:0004842 SNOMEDCT_US:44666001 UMLS:C0271901 Hypochromic microcytic anaemia Hypochromic, microcytic anaemia Hypochromic, microcytic anemia human_phenotype HP:0004840 Hypochromic microcytic anemia HP:0004840 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. https://orcid.org/0000-0002-0736-9199 Hypochromic microcytic anaemia Hypochromic, microcytic anaemia Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. HP:0005514 HP:0005551 HP:0008286 SNOMEDCT_US:46981006 UMLS:C0015526 Factor XII deficiency Hageman factor deficiency human_phenotype HP:0004841 Reduced factor XII activity HP:0004841 Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. https://orcid.org/0000-0002-0736-9199 true HP:0004842 true HP:0004843 A type of hemolytic anemia in which the Coombs test is positive. HP:0003539 SNOMEDCT_US:74789008 UMLS:C0520736 Coombs-positive hemolytic anaemia Direct Coombs positive human_phenotype HP:0004844 The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. Coombs-positive hemolytic anemia HP:0004844 A type of hemolytic anemia in which the Coombs test is positive. https://orcid.org/0000-0002-0736-9199 Coombs-positive hemolytic anaemia The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. HP:0004833 SNOMEDCT_US:22331004 SNOMEDCT_US:413441006 UMLS:C0023465 AML-M5 AMoL Acute monoblastic leukaemia Acute monoblastic leukemia Acute monocytic leukaemia human_phenotype HP:0004845 Acute monocytic leukemia HP:0004845 The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. PMID:24904835 AML-M5 AMoL Acute monoblastic leukaemia Acute monocytic leukaemia Bleeding that persists longer than the normal time following a surgical procedure. UMLS:C4021646 Excessive bleeding during surgery Prolonged bleeding after surgery Protracted bleeding after surgery human_phenotype HP:0004846 Prolonged bleeding after surgery HP:0004846 Bleeding that persists longer than the normal time following a surgical procedure. https://orcid.org/0000-0002-0736-9199 Excessive bleeding during surgery Prolonged bleeding after surgery Protracted bleeding after surgery true HP:0004847 A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. SNOMEDCT_US:425688002 SNOMEDCT_US:426955004 UMLS:C1960397 Ph-positive acute lymphoblastic leukaemia Philadelphia-positive acute lymphoblastic leukaemia Philadelphia-positive acute lymphoblastic leukemia human_phenotype HP:0004848 Ph-positive acute lymphoblastic leukemia HP:0004848 A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. PMID:21472706 Ph-positive acute lymphoblastic leukaemia Philadelphia-positive acute lymphoblastic leukaemia true HP:0004849 Repeated episodes of the formation of a blot clot in a deep vein. SNOMEDCT_US:710167004 UMLS:C1735901 Recurrent deep vein blood clot Recurrent venous thrombosis human_phenotype HP:0004850 Recurrent deep vein thrombosis HP:0004850 Repeated episodes of the formation of a blot clot in a deep vein. https://orcid.org/0000-0002-0736-9199 Recurrent deep vein blood clot https://orcid.org/0000-0001-6908-9849 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. UMLS:C2749656 Folate-responsive megaloblastic anaemia human_phenotype HP:0004851 Folate-responsive megaloblastic anemia HP:0004851 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. https://orcid.org/0000-0002-0736-9199 Folate-responsive megaloblastic anaemia Decreased alkaline phosphatase measured within leukocytes. UMLS:C1850780 Low leukocyte alkaline phosphatase Reduced leukocyte ALP human_phenotype HP:0004852 Reduced leukocyte alkaline phosphatase HP:0004852 Decreased alkaline phosphatase measured within leukocytes. https://orcid.org/0000-0002-0736-9199 Reduced leukocyte ALP true HP:0004853 Reduced platelet count that occurs sporadically, i.e., it comes and goes. UMLS:C1839167 human_phenotype HP:0004854 Intermittent thrombocytopenia HP:0004854 Reduced platelet count that occurs sporadically, i.e., it comes and goes. PMID:8384898 https://orcid.org/0000-0002-0736-9199 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. SNOMEDCT_US:1563006 UMLS:C0242666 UMLS:C4025284 Protein S deficiency human_phenotype HP:0004855 Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. Reduced protein S activity HP:0004855 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. https://orcid.org/0000-0002-0736-9199 A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. SNOMEDCT_US:4984008 UMLS:C0271902 Normochromic microcytic anaemia human_phenotype HP:0004856 Normochromic microcytic anemia HP:0004856 A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. https://orcid.org/0000-0002-0736-9199 Normochromic microcytic anaemia A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. UMLS:C3854594 Hyperchromic macrocytic anaemia human_phenotype HP:0004857 Hyperchromic macrocytic anemia HP:0004857 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin. https://orcid.org/0000-0002-0736-9199 Hyperchromic macrocytic anaemia true HP:0004858 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. SNOMEDCT_US:234482009 UMLS:C0398639 human_phenotype HP:0004859 Amegakaryocytic thrombocytopenia HP:0004859 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. https://orcid.org/0000-0002-0736-9199 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. SNOMEDCT_US:12907000 UMLS:C0271972 Thiamine-responsive megaloblastic anaemia human_phenotype HP:0004860 Thiamine-responsive megaloblastic anemia HP:0004860 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. https://orcid.org/0000-0002-0736-9199 Thiamine-responsive megaloblastic anaemia UMLS:C2675059 Refractory macrocytic anaemia human_phenotype HP:0004861 Refractory macrocytic anemia HP:0004861 Refractory macrocytic anaemia true HP:0004862 UMLS:C4025283 Compensated hemolytic anaemia human_phenotype HP:0004863 Compensated hemolytic anemia HP:0004863 Compensated hemolytic anaemia Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts. SNOMEDCT_US:41841004 UMLS:C0002896 Refractory sideroblastic anaemia human_phenotype HP:0004864 Sideroblastic anemia includes a group of inherited and acquired anemias of ineffective erythropoiesis characterized by an accumulation of ring sideroblasts in the bone marrow and decreased production of mature red blood cells. Additionally, refractory anemia with ring sideroblasts is a type of myelodysplastic syndrome that is characterized by anemia and the presence of at least 15 percent ring sideroblasts in the marrow. Elevated bone marrow ring sideroblast count HP:0004864 Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts. PMID:30725758 PMID:33061728 https://orcid.org/0000-0002-0736-9199 Refractory sideroblastic anaemia true HP:0004865 Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. UMLS:C4025282 human_phenotype HP:0004866 Impaired ADP-induced platelet aggregation HP:0004866 Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. PMID:11413156 https://orcid.org/0000-0002-0736-9199 true HP:0004867 true HP:0004868 true HP:0004869 An chronic form of hemolytic anemia. HP:0004815 SNOMEDCT_US:707480001 UMLS:C1387532 Chronic hemolytic anaemia hemolytic anemia, chronic human_phenotype HP:0004870 Chronic hemolytic anemia HP:0004870 An chronic form of hemolytic anemia. https://orcid.org/0000-0002-0736-9199 Chronic hemolytic anaemia The presence of a fistula between the bowel and the perineum. SNOMEDCT_US:284077005 UMLS:C0561921 human_phenotype HP:0004871 The perineum is the diamond-shaped region of the body between the pubic arch and the anus. Perineal fistula HP:0004871 The presence of a fistula between the bowel and the perineum. https://orcid.org/0000-0002-0736-9199 An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. SNOMEDCT_US:236037000 SNOMEDCT_US:241556001 UMLS:C0267716 UMLS:C4021645 Recurrent abdominal hernia human_phenotype HP:0004872 Incisional hernia HP:0004872 An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. https://orcid.org/0000-0002-0736-9199 true HP:0004873 true HP:0004874 UMLS:C4025281 human_phenotype HP:0004875 Neonatal inspiratory stridor HP:0004875 Pneumothorax occurring neonatally without traumatic injury to the chest or lung. UMLS:C1857021 Neonatal pneumothorax human_phenotype HP:0004876 Spontaneous neonatal pneumothorax HP:0004876 Pneumothorax occurring neonatally without traumatic injury to the chest or lung. https://orcid.org/0000-0002-0736-9199 true HP:0004877 Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. UMLS:C0240017 Muscle weakness between ribs human_phenotype Dependence on diaphragmatic breathing HP:0004878 Intercostal muscle weakness HP:0004878 Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. https://orcid.org/0000-0002-0736-9199 Muscle weakness between ribs https://orcid.org/0000-0001-6908-9849 Episodic hyperventilation. SNOMEDCT_US:423427003 UMLS:C1828017 Episodic hyperventilation Intermittent overbreathing human_phenotype HP:0004879 Intermittent hyperventilation HP:0004879 Episodic hyperventilation. https://orcid.org/0000-0002-0736-9199 Intermittent overbreathing https://orcid.org/0000-0001-6908-9849 Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections. UMLS:C4025280 human_phenotype HP:0004880 Respiratory infections in early life HP:0004880 UMLS:C1844946 Episodic slow breathing Episodic under breathing human_phenotype HP:0004881 Episodic hypoventilation HP:0004881 Episodic slow breathing https://orcid.org/0000-0001-6908-9849 Episodic under breathing https://orcid.org/0000-0001-6908-9849 true HP:0004882 true HP:0004883 true HP:0004884 UMLS:C1844945 Episodic difficulty breathing respiratory distress, episodic human_phenotype HP:0004885 Episodic respiratory distress HP:0004885 Episodic difficulty breathing https://orcid.org/0000-0001-6908-9849 SNOMEDCT_US:55490007 UMLS:C0265763 human_phenotype HP:0004886 Congenital laryngeal stridor HP:0004886 A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. HP:0004883 UMLS:C4025279 Respiratory distress necessitating mechanical ventilation Respiratory distress requiring endotracheal intubation Respiratory distress requiring mechanical ventilation human_phenotype HP:0004887 Respiratory failure requiring assisted ventilation HP:0004887 A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. PMID:18710593 PMID:28620428 https://orcid.org/0000-0002-7440-8864 true HP:0004888 UMLS:C3807025 human_phenotype HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889 An abnormally elevated blood pressure in the circulation of the pulmonary artery. HP:0004958 UMLS:C3805917 Elevated lung artery pressure increased pulmonary artery pressure human_phenotype HP:0004890 Elevated pulmonary artery pressure HP:0004890 An abnormally elevated blood pressure in the circulation of the pulmonary artery. https://orcid.org/0000-0002-0736-9199 increased pulmonary artery pressure https://orcid.org/0000-0001-5208-3432 Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. UMLS:C3806285 human_phenotype HP:0004891 Recurrent infections due to aspiration HP:0004891 true HP:0004892 true HP:0004893 UMLS:C3806280 human_phenotype HP:0004894 Laryngotracheal stenosis HP:0004894 true HP:0004895 true HP:0004896 A form of lactic acidemia that occurs in relation to stress or infection. UMLS:C4025278 human_phenotype Metabolic crises during febrile infections HP:0004897 Stress/infection-induced lactic acidosis HP:0004897 A form of lactic acidemia that occurs in relation to stress or infection. https://orcid.org/0000-0002-0736-9199 A continuous form of lactic acidemia. UMLS:C3554538 human_phenotype HP:0004898 Persistent lactic acidosis HP:0004898 A continuous form of lactic acidemia. https://orcid.org/0000-0002-0736-9199 true HP:0004899 A severe form of lactic acidemia. UMLS:C1839436 human_phenotype HP:0004900 Severe lactic acidosis HP:0004900 A severe form of lactic acidemia. https://orcid.org/0000-0002-0736-9199 A form of lactic acidemia that occurs following exercise or exertion. UMLS:C4025277 Exercise-induced lactic acidosis human_phenotype HP:0004901 Exercise-induced lactic acidemia HP:0004901 A form of lactic acidemia that occurs following exercise or exertion. PMID:15308499 https://orcid.org/0000-0002-0736-9199 Exercise-induced lactic acidosis https://orcid.org/0000-0001-6908-9849 A form of lactic acidemia with congenital onset. UMLS:C4025276 human_phenotype HP:0004902 Congenital lactic acidosis HP:0004902 A form of lactic acidemia with congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0004903 The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells. SNOMEDCT_US:609561005 UMLS:C0342276 Maturity onset diabetes of the young human_phenotype MODY HP:0004904 Maturity-onset diabetes of the young HP:0004904 The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells. https://orcid.org/0000-0002-0736-9199 MODY https://orcid.org/0000-0002-5316-1399 Concentration of vitamin A below the lower limit of normal in the blood circulation. SNOMEDCT_US:72000004 UMLS:C0042842 Low levels of vitamin A Vitamin A deficiency human_phenotype HP:0004905 Reduced circulating vitamin A concentration HP:0004905 Vitamin A deficiency SNOMEDCT_US:427784006 UMLS:C1850544 human_phenotype HP:0004906 Hypernatremic dehydration HP:0004906 true HP:0004907 true HP:0004908 UMLS:C0740896 human_phenotype HP:0004909 Hypokalemic hypochloremic metabolic alkalosis HP:0004909 UMLS:C1858626 HCO3-wasting renal tubular acidosis Renal bicarbonate wasting human_phenotype HP:0004910 Bicarbonate-wasting renal tubular acidosis HP:0004910 HCO3-wasting renal tubular acidosis Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. HP:0005963 UMLS:C1859516 Recurrent episodes of acidosis human_phenotype HP:0004911 Episodic metabolic acidosis HP:0004911 Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:66266003 UMLS:C1704375 human_phenotype HP:0004912 Hypophosphatemic rickets HP:0004912 An intermittent (discontinuous) form of lactic acidemia. UMLS:C1844917 human_phenotype HP:0004913 Intermittent lactic acidemia HP:0004913 An intermittent (discontinuous) form of lactic acidemia. https://orcid.org/0000-0002-0736-9199 Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. HP:0004917 UMLS:C4021644 Episodic infantile hypoglycemia Recurrent low blood sugar in infant human_phenotype HP:0004914 Recurrent infantile hypoglycemia HP:0004914 Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. https://orcid.org/0000-0002-0736-9199 Recurrent low blood sugar in infant https://orcid.org/0000-0001-6908-9849 An impairment of galactose metabolism. UMLS:C4021643 Impaired galactose metabolism human_phenotype HP:0004915 Impairment of galactose metabolism HP:0004915 An impairment of galactose metabolism. https://orcid.org/0000-0002-0736-9199 Impaired galactose metabolism https://orcid.org/0000-0002-5316-1399 UMLS:C4025275 Generalised distal tubular acidosis human_phenotype HP:0004916 Generalized distal tubular acidosis HP:0004916 Generalised distal tubular acidosis true HP:0004917 A form of metabolic acidosis with increased serum chloride levels. UMLS:C1969073 Non-gap acidosis human_phenotype HP:0004918 Hyperchloremic metabolic acidosis HP:0004918 A form of metabolic acidosis with increased serum chloride levels. PMID:31418093 SNOMEDCT_US:190745006 SNOMEDCT_US:190749000 UMLS:C0016952 human_phenotype HP:0004919 Galactose intolerance HP:0004919 UMLS:C1849926 human_phenotype HP:0004920 Phenylpyruvic acidemia HP:0004920 Any deviation from the normal concentration of magnesium in the blood circulation. HP:0008274 UMLS:C4020826 UMLS:C4025274 Abnormal Mg concentration Abnormal magnesium concentration Abnormal magnesium(2+) level Abnormality of magnesium homeostasis human_phenotype Abnormal magnesium metabolism HP:0004921 Abnormal circulating magnesium concentration HP:0004921 Abnormal Mg concentration UMLS:C4025273 human_phenotype HP:0004922 Atypical hyperphenylalaninemia HP:0004922 The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal. SNOMEDCT_US:68528007 UMLS:C0751435 Elevated phenylalanine concentration Elevated phenylalanine level Elevated phenylalanine level in blood Hyperphenylalaninemia Increased phenylalanine concentration Increased phenylalanine level Increased phenylalanine level in blood human_phenotype HP:0004923 Hyperphenylalaninemia HP:0004923 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. UMLS:C1847425 Abnormal glucose oral tolerance test human_phenotype HP:0004924 Abnormal oral glucose tolerance HP:0004924 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. https://orcid.org/0000-0002-0736-9199 A chronic form of lactic acidemia. HP:0004899 UMLS:C1839437 human_phenotype HP:0004925 Chronic lactic acidosis HP:0004925 A chronic form of lactic acidemia. https://orcid.org/0000-0002-0736-9199 UMLS:C1868528 human_phenotype HP:0004926 Orthostatic hypotension due to autonomic dysfunction HP:0004926 An abnormal widening of the diameter of the pulmonary artery. SNOMEDCT_US:251047005 UMLS:C0428851 human_phenotype HP:0004927 Pulmonary artery dilatation HP:0004927 An abnormal widening of the diameter of the pulmonary artery. https://orcid.org/0000-0002-0736-9199 HP:0004950 human_phenotype HP:0004928 obsolete Peripheral arterial stenosis true HP:0004928 HP:0001677 human_phenotype HP:0004929 obsolete Coronary atherosclerosis true HP:0004929 2008-03-26T04:07:00Z UMLS:C4025271 Abnormality of the lung blood vessels human_phenotype HP:0004930 Abnormality of the pulmonary vasculature HP:0004930 Abnormality of the lung blood vessels https://orcid.org/0000-0001-5208-3432 Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. Hardened artery wall in small cerebral arteries UMLS:C4025270 UMLS:C4280505 human_phenotype HP:0004931 Arteriosclerosis of small cerebral arteries HP:0004931 Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. https://orcid.org/0000-0002-0736-9199 Hardened artery wall in small cerebral arteries https://orcid.org/0000-0001-5208-3432 true HP:0004932 A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. UMLS:C1836653 Type A aortic dissection human_phenotype HP:0004933 According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch. Ascending aortic dissection HP:0004933 A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. https://orcid.org/0000-0002-0736-9199 Abnormal calcification of the vasculature. SNOMEDCT_US:237897009 UMLS:C0342649 human_phenotype HP:0004934 Vascular calcification HP:0004934 Abnormal calcification of the vasculature. https://orcid.org/0000-0002-0736-9199 A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. SNOMEDCT_US:10930001 SNOMEDCT_US:204443008 UMLS:C0265908 Atresia of the pulmonary artery Pulmonary atresia human_phenotype HP:0004935 Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Pulmonary artery atresia HP:0004935 A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. SNOMEDCT_US:111293003 UMLS:C0042487 Blood clot in vein human_phenotype HP:0004936 Venous thrombosis HP:0004936 Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. https://orcid.org/0000-0002-0736-9199 Blood clot in vein https://orcid.org/0000-0001-6908-9849 An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. SNOMEDCT_US:194892009 UMLS:C0155676 human_phenotype HP:0004937 Pulmonary artery aneurysm HP:0004937 An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Excessive bending, twisting, and winding of a cerebral artery. UMLS:C1836791 Twisted cerebral arteries human_phenotype HP:0004938 Tortuous cerebral arteries HP:0004938 Excessive bending, twisting, and winding of a cerebral artery. https://orcid.org/0000-0002-0736-9199 Twisted cerebral arteries https://orcid.org/0000-0001-6908-9849 true HP:0004939 Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. HP:0004967 UMLS:C4025269 Generalised arterial calcification human_phenotype HP:0004940 Generalized arterial calcification HP:0004940 Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. https://orcid.org/0000-0002-0736-9199 Generalised arterial calcification Increased pressure in the pre-hepatic portal vein. UMLS:C4025268 human_phenotype HP:0004941 Hypertension in the portal venous tree proper. previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal)) Extrahepatic portal hypertension HP:0004941 Increased pressure in the pre-hepatic portal vein. https://orcid.org/0000-0002-0736-9199 Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. HP:0001724 Aortic dilatation Enlarged aorta Fyler:2301 Fyler:2708 SNOMEDCT_US:67362008 UMLS:C0003486 Bulge in wall of large artery that carries blood away from heart human_phenotype HP:0004942 Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangeably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym. Aortic aneurysm HP:0004942 Enlarged aorta Bulge in wall of large artery that carries blood away from heart https://orcid.org/0000-0002-6548-5200 Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Accelerated plaque build-up in arteries UMLS:C1849618 UMLS:C4280504 human_phenotype HP:0004943 Accelerated atherosclerosis HP:0004943 Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. PMID:29040156 Accelerated plaque build-up in arteries https://orcid.org/0000-0001-5208-3432 The presence of a localized dilatation or ballooning of a cerebral artery. HP:0002618 HP:0006816 Brain aneurysm Intracranial aneurysm SNOMEDCT_US:128608001 UMLS:C0751003 UMLS:C1290398 Cerebral aneurysm Cerebral artery aneurysm human_phenotype HP:0004944 Aneurysm is considered a severe form of dilatation. Dilatation of the cerebral artery HP:0004944 The presence of a localized dilatation or ballooning of a cerebral artery. https://orcid.org/0000-0002-0736-9199 Brain aneurysm https://orcid.org/0000-0001-6908-9849 A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. UMLS:C4025267 human_phenotype HP:0004945 Extracranial internal carotid artery dissection HP:0004945 A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall. https://orcid.org/0000-0002-0736-9199 true HP:0004946 An abnormal connection between an artery and vein. HP:0004946 SNOMEDCT_US:128617001 SNOMEDCT_US:439470001 UMLS:C0003855 Arteriovenous fistulas human_phenotype HP:0004947 Arteriovenous fistula HP:0004947 An abnormal connection between an artery and vein. https://www.mayoclinic.org/diseases-conditions/arteriovenous-fistula/symptoms-causes/syc-20369567 Abnormal twisting of arteries or veins. UMLS:C2673776 Twisted blood vessels human_phenotype HP:0004948 Vascular tortuosity HP:0004948 Abnormal twisting of arteries or veins. PMID:22433458 Twisted blood vessels https://orcid.org/0000-0001-6908-9849 true HP:0004949 Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. HP:0004928 HP:0004973 HP:0005296 HP:0005299 HP:0005309 HP:0005315 HP:0005794 SNOMEDCT_US:399957001 SNOMEDCT_US:400047006 UMLS:C0085096 UMLS:C1704436 Peripheral artery disease human_phenotype Arterial disease of legs Occlusive arterial disease Occlusive vascular disease Peripheral artery occlusive disease Peripheral vascular disease HP:0004950 The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease. Peripheral arterial stenosis HP:0004950 Peripheral artery disease https://orcid.org/0000-0001-6908-9849 Peripheral vascular disease https://orcid.org/0000-0002-0736-9199 true HP:0004951 A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. SNOMEDCT_US:111289009 UMLS:C0155675 human_phenotype HP:0004952 Pulmonary arteriovenous fistulas HP:0004952 A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed. PMID:27122941 HP:0005112 human_phenotype HP:0004953 obsolete Dilatation of abdominal aorta true HP:0004953 HP:0004959 human_phenotype HP:0004954 obsolete Dilatation of the descending aorta true HP:0004954 Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. UMLS:C1836651 UMLS:C3279191 Generalised arterial tortuosity Generalised twisted arteries Generalized twisted arteries human_phenotype Arterial tortuosity, general Arterial tortuosity, generalised Arterial tortuosity, generalized HP:0004955 Generalized arterial tortuosity HP:0004955 Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. https://orcid.org/0000-0002-0736-9199 Generalised arterial tortuosity Generalised twisted arteries Generalized twisted arteries https://orcid.org/0000-0001-6908-9849 Arterial tortuosity, general https://orcid.org/0000-0002-5316-1399 Arterial tortuosity, generalised Arterial tortuosity, generalized https://orcid.org/0000-0002-5316-1399 true HP:0004956 true HP:0004957 true HP:0004958 An abnormal localized widening (dilatation) of the descending thoracic aorta. 2008-03-25T06:32:00Z HP:0004954 Dilatation of the descending thoracic aorta Fyler:2754 UMLS:C4025266 human_phenotype HP:0004959 Descending thoracic aorta aneurysm HP:0004959 A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. SNOMEDCT_US:86252004 UMLS:C0265905 Absent lung artery Missing pulmonary artery human_phenotype HP:0004960 This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. Absent pulmonary artery HP:0004960 A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. PMID:17192541 https://orcid.org/0000-0002-0736-9199 Absent lung artery https://orcid.org/0000-0001-5208-3432 Missing pulmonary artery https://orcid.org/0000-0001-6908-9849 An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. UMLS:C1856123 human_phenotype HP:0004961 Pulmonary artery sling HP:0004961 An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. HPO_CONTRIBUTOR:DDD_dbrown PMID:16549603 PMID:18458183 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. UMLS:C1969292 human_phenotype HP:0004962 Thoracic aorta calcification HP:0004962 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. https://orcid.org/0000-0002-0736-9199 Calcification, that is, pathological deposition of calcium salts in the aorta. UMLS:C1096249 human_phenotype HP:0004963 Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. Calcification of the aorta HP:0004963 Calcification, that is, pathological deposition of calcium salts in the aorta. https://orcid.org/0000-0002-0736-9199 Increase in mass of the tunica media of the arteries in the pulmonary circulation. HP:0004939 UMLS:C1504382 Hypertrophy of the pulmonary artery wall human_phenotype HP:0004964 Pulmonary arterial medial hypertrophy HP:0004964 Increase in mass of the tunica media of the arteries in the pulmonary circulation. https://orcid.org/0000-0002-0736-9199 true HP:0004965 Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. UMLS:C4025265 human_phenotype HP:0004966 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 Medial calcification of large arteries HP:0004966 Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. https://orcid.org/0000-0002-0736-9199 true HP:0004967 Recurrent bleeding into the parenchyma of the brain. UMLS:C4025264 Recurrent cerebral haemorrhage Recurrent hemorrhagic stroke human_phenotype HP:0004968 Recurrent cerebral hemorrhage HP:0004968 Recurrent bleeding into the parenchyma of the brain. HPO_CONTRIBUTOR:DDD_dbrown Recurrent cerebral haemorrhage Recurrent hemorrhagic stroke https://orcid.org/0000-0001-6908-9849 Stenosis of a peripheral branch of the pulmonary artery. HP:0004957 SNOMEDCT_US:253631001 UMLS:C0345030 Narrowing of peripheral lung artery Peripheral pulmonic stenosis peripheral pulmonary stenosis human_phenotype Occlusion of small pulmonary arteries HP:0004969 Peripheral pulmonary artery stenosis HP:0004969 Stenosis of a peripheral branch of the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Narrowing of peripheral lung artery https://orcid.org/0000-0001-5208-3432 An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. HP:0005111 HP:0005128 Ascending aorta dilation Fyler:2310 Fyler:2701 SNOMEDCT_US:253645007 UMLS:C0345049 Aneurysm of the ascending tubular aorta Ascending aortic aneurysm Ascending aortic dilation Bulging of wall of large artery located above heart Dilatation of ascending aorta human_phenotype HP:0004970 Aneurysm is considered a severe form of dilatation. Ascending tubular aorta aneurysm HP:0004970 Bulging of wall of large artery located above heart https://orcid.org/0000-0002-6548-5200 Underdevelopment of the pulmonary artery. Fyler:2966 SNOMEDCT_US:54682008 UMLS:C0265910 Underdeveloped lung artery Underdeveloped pulmonary artery human_phenotype HP:0004971 Pulmonary artery hypoplasia HP:0004971 Underdevelopment of the pulmonary artery. https://orcid.org/0000-0002-0736-9199 Underdeveloped lung artery https://orcid.org/0000-0001-5208-3432 Underdeveloped pulmonary artery https://orcid.org/0000-0001-6908-9849 An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. UMLS:C1840376 human_phenotype HP:0004972 Elevated mean arterial pressure HP:0004972 An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. PMID:18451345 true HP:0004973 Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. UMLS:C4025263 human_phenotype HP:0004974 Coarctation of abdominal aorta HP:0004974 Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. https://orcid.org/0000-0002-0736-9199 Flaring of distal femur. HP:0006422 UMLS:C1855895 Erlenmeyer flask deformity of distal femur Erlenmeyer flask femora Erlenmeyer flask shaped thighbone human_phenotype HP:0004975 Erlenmeyer flask deformity of the femurs HP:0004975 Flaring of distal femur. https://orcid.org/0000-0002-0736-9199 Erlenmeyer flask shaped thighbone https://orcid.org/0000-0001-6908-9849 HP:0006469 SNOMEDCT_US:58320001 UMLS:C0159970 Dislocations of the knees Knee dislocations human_phenotype HP:0004976 Knee dislocation HP:0004976 Missing radius bone on both sides associated with congenital failure of development. HP:0005870 UMLS:C1848840 Bilateral absence of radius human_phenotype HP:0004977 Bilateral radial aplasia HP:0004977 Missing radius bone on both sides associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 true HP:0004978 Abnormally increased density of metaphyseal bone. UMLS:C3552526 Increased bone density in wide portion of long bone Sclerotic metaphyses human_phenotype HP:0004979 Metaphyseal sclerosis HP:0004979 Abnormally increased density of metaphyseal bone. https://orcid.org/0000-0002-0736-9199 Increased bone density in wide portion of long bone https://orcid.org/0000-0001-5208-3432 Reduction in density of metaphyseal bony tissue. UMLS:C1832146 Rarefaction of the metaphyses human_phenotype HP:0004980 Metaphyseal rarefaction HP:0004980 Reduction in density of metaphyseal bony tissue. https://orcid.org/0000-0002-0736-9199 UMLS:C4025262 human_phenotype HP:0004981 Prominent styloid process of ulna HP:0004981 true HP:0004982 true HP:0004983 true HP:0004984 true HP:0004985 HP:0006381 human_phenotype HP:0004986 obsolete Rudimentary to absent fibulae true HP:0004986 Shortening of the middle parts of the leg in relation to the upper and terminal segments. UMLS:C1969178 Mesomelia of the lower limbs Mesomelic lower limb shortening human_phenotype HP:0004987 Mesomelic leg shortening HP:0004987 Shortening of the middle parts of the leg in relation to the upper and terminal segments. https://orcid.org/0009-0006-4530-3154 true HP:0004988 true HP:0004989 UMLS:C1858039 human_phenotype HP:0004990 Epiphyseal streaking HP:0004990 Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). UMLS:C1969532 human_phenotype HP:0004991 This term implies that the ulna and radius are not substantially shortened. Rhizomelic arm shortening HP:0004991 Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). https://orcid.org/0000-0002-0736-9199 true HP:0004992 Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. UMLS:C2675547 Slender long bones with narrow shaft human_phenotype HP:0004993 Slender long bones with narrow diaphyses HP:0004993 Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. https://orcid.org/0000-0002-0736-9199 Slender long bones with narrow shaft https://orcid.org/0000-0001-5208-3432 true HP:0004994 true HP:0004995 true HP:0004996 UMLS:C1857192 human_phenotype HP:0004997 Multicentric ossification of proximal humeral epiphyses HP:0004997 true HP:0004998 true HP:0004999 true HP:0005000 Patellar dislocation occurring repeated times. SNOMEDCT_US:202246002 UMLS:C0409412 Recurrent dislocation of patellas human_phenotype HP:0005001 Recurrent patellar dislocation HP:0005001 Patellar dislocation occurring repeated times. https://orcid.org/0000-0002-0736-9199 true HP:0005002 Absence or underdevelopment of the proximal epiphysis of the femur. UMLS:C4025261 Absent/small end part of innermost thighbone Absent/underdeveloped end part of innermost thighbone human_phenotype HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis HP:0005003 Absence or underdevelopment of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Absent/small end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 An abnormally flat form of the proximal epiphysis of the radius. UMLS:C1849065 human_phenotype HP:0005004 Flattened proximal radial epiphyses HP:0005004 An abnormally flat form of the proximal epiphysis of the radius. https://orcid.org/0000-0002-0736-9199 Congenital onset bending or abnormal curvature of the femur that normalizes with age. UMLS:C1833754 Bowing of thighbone at birth, straightening with time human_phenotype HP:0005005 This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. Femoral bowing present at birth, straightening with time HP:0005005 Congenital onset bending or abnormal curvature of the femur that normalizes with age. https://orcid.org/0000-0002-0736-9199 Bowing of thighbone at birth, straightening with time https://orcid.org/0000-0001-5208-3432 true HP:0005006 true HP:0005007 UMLS:C4025260 Large joint dislocations human_phenotype HP:0005008 Large joint dislocations HP:0005008 Large joint dislocations The humerus is shortened and displays flaring (widening) of the metaphyses. UMLS:C4025259 Dumbbell-shaped long bone in upper arm human_phenotype HP:0005009 Dumbbell-shaped humerus HP:0005009 The humerus is shortened and displays flaring (widening) of the metaphyses. https://orcid.org/0000-0002-0736-9199 Dumbbell-shaped long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C1864975 human_phenotype HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures HP:0005010 Shortening of the middle parts of the arm in relation to the upper and terminal segments. HP:0005024 HP:0006455 UMLS:C1862087 Mesomelia of the upper limbs Upper limb brachymesomelia human_phenotype HP:0005011 Mesomelic arm shortening HP:0005011 Shortening of the middle parts of the arm in relation to the upper and terminal segments. https://orcid.org/0009-0006-4530-3154 true HP:0005012 Abnormally developed (dysplastic) distal epiphysis of the radius. UMLS:C1862131 human_phenotype HP:0005013 Dysplastic distal radial epiphyses HP:0005013 Abnormally developed (dysplastic) distal epiphysis of the radius. https://orcid.org/0000-0002-0736-9199 true HP:0005014 true HP:0005015 true HP:0005016 UMLS:C4025258 human_phenotype HP:0005017 Polyarticular chondrocalcinosis HP:0005017 true HP:0005018 Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. UMLS:C1835473 Diaphyseal widening Thickening of shaft or central part of long bones Undertubulated long bones Undertubulation of diaphyses human_phenotype HP:0005019 Diaphyseal undertubulation HP:0005019 Thickening of shaft or central part of long bones https://orcid.org/0000-0002-6548-5200 true HP:0005020 UMLS:C3278429 Dislocated elbows on both sides human_phenotype HP:0005021 Bilateral elbow dislocations HP:0005021 Dislocated elbows on both sides https://orcid.org/0000-0001-5208-3432 true HP:0005022 true HP:0005023 true HP:0005024 Underdevelopment of the distal portion of the humerus. UMLS:C1968607 human_phenotype HP:0005025 Hypoplastic distal humeri HP:0005025 Underdevelopment of the distal portion of the humerus. https://orcid.org/0000-0002-0736-9199 UMLS:C1866239 human_phenotype HP:0005026 Mesomelic/rhizomelic limb shortening HP:0005026 true HP:0005027 UMLS:C1836187 Wide innermost wide portion of shankbone bone Wide innermost wide portion of shinbone bone human_phenotype HP:0005028 Widened proximal tibial metaphyses HP:0005028 Wide innermost wide portion of shankbone bone https://orcid.org/0000-0001-5208-3432 Wide innermost wide portion of shinbone bone https://orcid.org/0000-0001-5208-3432 true HP:0005029 true HP:0005030 true HP:0005031 true HP:0005032 Underdevelopment of the distal portion of the ulna. HP:0006474 UMLS:C1833145 Distal shortening of ulna Hypoplastic distal ulna human_phenotype HP:0005033 Distal ulnar hypoplasia HP:0005033 Underdevelopment of the distal portion of the ulna. https://orcid.org/0000-0002-0736-9199 true HP:0005034 Developmental hypoplasia (shortening) of all phalanges of the foot. UMLS:C4025257 Short toe bones human_phenotype HP:0005035 Shortening of all phalanges of the toes HP:0005035 Developmental hypoplasia (shortening) of all phalanges of the foot. https://orcid.org/0000-0002-0736-9199 Short toe bones https://orcid.org/0000-0001-5208-3432 Underdevelopment of the ulna on only one side. UMLS:C1837832 human_phenotype HP:0005036 Unilateral ulnar hypoplasia HP:0005036 Underdevelopment of the ulna on only one side. https://orcid.org/0000-0002-0736-9199 An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. UMLS:C2676443 human_phenotype HP:0005037 Proximal radio-ulnar synostosis HP:0005037 An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. https://orcid.org/0000-0002-0736-9199 true HP:0005038 Multiple exostoses originating in long bones. UMLS:C1835583 Multiple exostoses of long tubular bones human_phenotype HP:0005039 Multiple long-bone exostoses HP:0005039 Multiple exostoses originating in long bones. https://orcid.org/0000-0002-0736-9199 true HP:0005040 Irregular surface of the normally relatively smooth capital femoral epiphysis. HP:0008806 UMLS:C4020825 Irregular end part of innermost thighbone Irregular proximal femoral epiphyses human_phenotype Irregular capital femoral epiphyses HP:0005041 Irregular capital femoral epiphysis HP:0005041 Irregular surface of the normally relatively smooth capital femoral epiphysis. https://orcid.org/0000-0002-0736-9199 Irregular end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 UMLS:C1866700 human_phenotype HP:0005042 Irregular, rachitic-like metaphyses HP:0005042 Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). UMLS:C1865128 Irregular proximal humeral metaphyses human_phenotype HP:0005043 Proximal humeral metaphyseal irregularity HP:0005043 Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). https://orcid.org/0000-0002-0736-9199 true HP:0005044 An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C1833739 human_phenotype HP:0005045 Diaphyseal cortical sclerosis HP:0005045 An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 true HP:0005046 true HP:0005047 UMLS:C1836193 Fusion of wrist bones human_phenotype HP:0005048 Synostosis of carpal bones HP:0005048 Fusion of wrist bones https://orcid.org/0000-0001-5208-3432 true HP:0005049 A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. UMLS:C1968610 Anterior/lateral radial head dislocation human_phenotype HP:0005050 Anterolateral radial head dislocation HP:0005050 A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. https://orcid.org/0000-0002-0736-9199 true HP:0005051 true HP:0005052 true HP:0005053 Bony outgrowths that extend laterally from the margin of the metaphysis. HP:0005088 UMLS:C1832988 human_phenotype HP:0005054 Metaphyseal spurs HP:0005054 Bony outgrowths that extend laterally from the margin of the metaphysis. https://orcid.org/0000-0002-0736-9199 true HP:0005056 true HP:0005057 true HP:0005058 UMLS:C4025256 Joint pain/Joint inflammation human_phenotype HP:0005059 Arthralgia/arthritis HP:0005059 Joint pain/Joint inflammation UMLS:C1968605 human_phenotype HP:0005060 Limited elbow flexion/extension HP:0005060 true HP:0005061 true HP:0005062 UMLS:C1867494 Fragmented, irregular end part of bone human_phenotype HP:0005063 Fragmented, irregular epiphyses HP:0005063 Fragmented, irregular end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0005064 true HP:0005065 UMLS:C4025255 Cone-shaped end part of long bone fused within their wide portion of wide bone human_phenotype HP:0005066 Cone-shaped epiphyses fused within their metaphyses HP:0005066 Cone-shaped end part of long bone fused within their wide portion of wide bone https://orcid.org/0000-0001-5208-3432 Overgrowth of the proximal part of the fibula. UMLS:C2673395 Overgrowth of innermost part of calf bone human_phenotype HP:0005067 Proximal fibular overgrowth HP:0005067 Overgrowth of the proximal part of the fibula. https://orcid.org/0000-0002-0736-9199 Overgrowth of innermost part of calf bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025254 human_phenotype HP:0005068 Absent styloid process of ulna HP:0005068 UMLS:C2673654 human_phenotype HP:0005069 Rhizo-meso-acromelic limb shortening HP:0005069 A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. UMLS:C1865570 human_phenotype HP:0005070 Proximal radial head dislocation HP:0005070 A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction. https://orcid.org/0000-0002-0736-9199 true HP:0005071 The ability of the wrist joints to move beyond their normal range of motion. UMLS:C1850853 Hyperextensibility at wrists Increased laxity of wrists Increased wrist mobility human_phenotype HP:0005072 Wrist hypermobility HP:0005072 The ability of the wrist joints to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 Increased wrist mobility https://orcid.org/0000-0001-5208-3432 true HP:0005073 true HP:0005074 true HP:0005075 true HP:0005076 true HP:0005077 true HP:0005078 true HP:0005079 true HP:0005080 true HP:0005081 true HP:0005082 true HP:0005083 A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. UMLS:C2674451 Anterior dislocation of radial head human_phenotype HP:0005084 Anterior radial head dislocation HP:0005084 A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. https://orcid.org/0000-0002-0736-9199 A limited ability of the knee joint to perform extension and flexion. UMLS:C1968606 human_phenotype HP:0005085 Limited knee flexion/extension HP:0005085 A limited ability of the knee joint to perform extension and flexion. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:239873007 UMLS:C0409959 human_phenotype HP:0005086 Knee osteoarthritis HP:0005086 true HP:0005087 true HP:0005088 An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. HP:0006360 UMLS:C1857139 human_phenotype HP:0005089 Abnormal metaphyseal trabeculation HP:0005089 An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. https://orcid.org/0000-0002-0736-9199 A lateral bending or abnormal curvature of the femur. HP:0005022 UMLS:C1866737 human_phenotype HP:0005090 Lateral femoral bowing HP:0005090 A lateral bending or abnormal curvature of the femur. https://orcid.org/0000-0002-0736-9199 true HP:0005091 The presence of streaks (bands) of abnormally increased density of metaphyseal bone. UMLS:C4025253 Streak increase in bone density in wide portion of wide bone human_phenotype HP:0005092 Streaky metaphyseal sclerosis HP:0005092 The presence of streaks (bands) of abnormally increased density of metaphyseal bone. https://orcid.org/0000-0002-0736-9199 Streak increase in bone density in wide portion of wide bone https://orcid.org/0000-0001-5208-3432 Absence of the proximal radial epiphysis. UMLS:C1855301 human_phenotype HP:0005093 Absent proximal radial epiphyses HP:0005093 Absence of the proximal radial epiphysis. https://orcid.org/0000-0002-0736-9199 true HP:0005094 true HP:0005095 A bending or abnormal curvature of the distal portion of the femur. UMLS:C1860107 human_phenotype HP:0005096 Distal femoral bowing HP:0005096 A bending or abnormal curvature of the distal portion of the femur. https://orcid.org/0000-0002-0736-9199 true HP:0005097 true HP:0005098 HP:0001789 Severe hydrops human_phenotype HP:0005099 obsolete Severe hydrops fetalis true HP:0005099 UMLS:C1851833 Premature birth following premature rupture of foetal membranes human_phenotype HP:0005100 Premature birth following premature rupture of fetal membranes HP:0005100 Premature birth following premature rupture of foetal membranes A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). 2008-03-25T05:03:00Z HP:0008522 HP:0008584 HP:0008597 SNOMEDCT_US:232326009 SNOMEDCT_US:48758008 UMLS:C0018780 Hearing loss, high-frequency High frequency hearing loss High-frequency deafness Progressive high frequency hearing loss Progressive high-frequency hearing loss human_phenotype HP:0005101 High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. High-frequency hearing impairment HP:0005101 A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). https://orcid.org/0000-0002-0736-9199 Hearing loss, high-frequency High frequency hearing loss Progressive high frequency hearing loss Deterioration or loss of the tissues of the cochlea. 2008-03-25T05:06:00Z HP:0008156 UMLS:C1849095 Progressive cochlear degeneration human_phenotype HP:0005102 Cochlear degeneration HP:0005102 Deterioration or loss of the tissues of the cochlea. https://orcid.org/0000-0002-0736-9199 Ossification affecting the external ear cartilage. 2008-03-25T05:09:00Z HP:0008549 UMLS:C1408806 Cartilaginous ossification of pinnae Ossification of pinnae Petrified ear human_phenotype Ear cartilage calcification HP:0005103 Calcification of the auricular cartilage HP:0005103 Ossification affecting the external ear cartilage. PMID:15523361 PMID:23259082 https://orcid.org/0000-0002-0736-9199 Underdevelopment of the nasal septum. 2008-03-25T05:15:00Z UMLS:C1861328 Decreased size of nasal septum Decreased size of septum of nose Hypoplasia of septum of nose Small nasal septum Small septum of nose human_phenotype HP:0005104 Hypoplastic nasal septum HP:0005104 Underdevelopment of the nasal septum. https://orcid.org/0000-0002-0736-9199 Decreased size of nasal septum https://orcid.org/0000-0001-5889-4463 Decreased size of septum of nose https://orcid.org/0000-0001-5889-4463 Hypoplasia of septum of nose https://orcid.org/0000-0001-5889-4463 Small nasal septum https://orcid.org/0000-0001-5889-4463 Small septum of nose https://orcid.org/0000-0001-5889-4463 2008-03-25T05:21:00Z Fyler:4870 UMLS:C4025252 Abnormal nose morphology Abnormal of morphology of nose Abnormal of nasal shape Abnormal of shape of nose human_phenotype HP:0005105 This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. Abnormal nasal morphology HP:0005105 Abnormal nose morphology https://orcid.org/0000-0001-5208-3432 Abnormal of morphology of nose https://orcid.org/0000-0001-5889-4463 Abnormal of nasal shape https://orcid.org/0000-0001-5889-4463 Abnormal of shape of nose https://orcid.org/0000-0001-5889-4463 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. 2008-03-25T06:01:00Z UMLS:C4025251 human_phenotype HP:0005106 Abnormality of the vertebral endplates HP:0005106 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. https://orcid.org/0000-0002-0736-9199 An abnormality of the sacral bone. 2008-03-25T06:03:00Z UMLS:C4025250 Abnormality of the sacrum human_phenotype HP:0005107 The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5. Abnormal sacrum morphology HP:0005107 An abnormality of the sacral bone. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the intervertebral disk. 2008-03-25T06:05:00Z UMLS:C4025249 Abnormality of the intervertebral disc Abnormality of the intervertebral disk human_phenotype HP:0005108 Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. Abnormal intervertebral disk morphology HP:0005108 Any structural abnormality of the intervertebral disk. https://orcid.org/0000-0002-0736-9199 Abnormality of the intervertebral disc An abnormality of the Achilles tendon. 2008-03-25T06:21:00Z UMLS:C4021642 Abnormality of the Achilles tendon Abnormality of the calcaneal tendon human_phenotype HP:0005109 Abnormal Achilles tendon morphology HP:0005109 An abnormality of the Achilles tendon. https://orcid.org/0000-0002-0736-9199 Abnormality of the Achilles tendon An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. 2008-03-25T06:29:00Z HP:0001715 HP:0005179 SNOMEDCT_US:49436004 UMLS:C0004238 Quivering upper heart chambers resulting in irregular heartbeat human_phenotype HP:0005110 The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. Atrial fibrillation HP:0005110 An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. https://orcid.org/0000-0002-0736-9199 Quivering upper heart chambers resulting in irregular heartbeat https://orcid.org/0000-0002-6548-5200 HP:0004970 human_phenotype HP:0005111 obsolete Dilatation of the ascending aorta true HP:0005111 An abnormal localized widening (dilatation) of the abdominal aorta. 2008-03-25T06:33:00Z HP:0004953 Dilatation of the abdominal aorta UMLS:C4025248 human_phenotype HP:0005112 Abdominal aortic aneurysm HP:0005112 An abnormal localized widening (dilatation) of the aortic arch. 2008-03-25T06:34:00Z HP:0004965 Aortic arch dilatation Dilatation of the aortic arch Fyler:2706 UMLS:C1851119 human_phenotype HP:0005113 Aortic arch aneurysm HP:0005113 HP:0011004 human_phenotype HP:0005114 obsolete Abnormalities of the peripheral arteries true HP:0005114 A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. 2008-03-25T06:37:00Z SNOMEDCT_US:72654001 UMLS:C0428974 Supraventricular arrhythmias human_phenotype HP:0005115 Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. Supraventricular arrhythmia HP:0005115 A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. https://orcid.org/0000-0002-0736-9199 Supraventricular arrhythmias https://orcid.org/0000-0002-5316-1399 Abnormal tortuous (i.e., twisted) form of arteries. 2008-03-25T06:39:00Z UMLS:C3279191 human_phenotype HP:0005116 Arterial tortuosity HP:0005116 Abnormal tortuous (i.e., twisted) form of arteries. https://orcid.org/0000-0002-0736-9199 Abnormal increase in diastolic blood pressure. 2008-03-25T06:43:00Z UMLS:C1840375 Elevated diastolic BP human_phenotype HP:0005117 Normal diastolic blood pressure is less than 80 mmHg. Elevated diastolic blood pressure HP:0005117 Abnormal increase in diastolic blood pressure. https://orcid.org/0000-0002-0736-9199 Elevated diastolic BP true HP:0005118 true HP:0005119 Any structural abnormality of a cardiac atrium. 2008-03-26T04:12:00Z UMLS:C4025246 Abnormality of cardiac atrium morphology Abnormality of heart atrium human_phenotype HP:0005120 Abnormal cardiac atrium morphology HP:0005120 Any structural abnormality of a cardiac atrium. https://orcid.org/0000-0002-0736-9199 Abnormality of heart atrium https://orcid.org/0000-0001-5208-3432 An excessive concavity of the posterior surface of one or more vertebral bodies. HP:0004572 HP:0004579 UMLS:C1850196 Posterior vertebral body scalloping human_phenotype HP:0005121 The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors. Posterior scalloping of vertebral bodies HP:0005121 An excessive concavity of the posterior surface of one or more vertebral bodies. https://orcid.org/0000-0002-0736-9199 true HP:0005122 true HP:0005123 true HP:0005124 true HP:0005125 true HP:0005126 true HP:0005127 true HP:0005128 UMLS:C1855901 human_phenotype HP:0005129 Congenital hypertrophy of left ventricle HP:0005129 HP:0001723 human_phenotype HP:0005130 obsolete Restrictive heart failure true HP:0005130 true HP:0005131 Compression of the heart caused by rigid, thickened, or fused pericardial membranes. UMLS:C0240709 human_phenotype HP:0005132 Pericardial constriction HP:0005132 Compression of the heart caused by rigid, thickened, or fused pericardial membranes. PMID:14966039 Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. Fyler:1827 Fyler:2333 SNOMEDCT_US:253522006 UMLS:C0344893 Dilated heart right ventricle human_phenotype HP:0005133 Ventricular dilatation is to be distinguished from ventricular aneurysm, which refers to a diastolic as well as systolic outpouching of the ventricle containing endocardium, epicardium, and thin-wall non-contractile scarred myocardium, which mainly develop in the setting of a full-thickness infarct, replaced by fibrous tissue because of myocardial infarction. Right ventricular dilatation HP:0005133 Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1. PMID:17715105 PMID:24075286 PMID:37443588 https://orcid.org/0000-0002-0736-9199 Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. HP:0005131 SNOMEDCT_US:6996004 UMLS:C0265831 Absent pulmonary valve human_phenotype HP:0005134 The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. Absence of the pulmonary valve HP:0005134 Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. HPO_CONTRIBUTOR:DDD_dbrown An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. UMLS:C4025245 EKG: T-wave abnormalities T-wave abnormalities human_phenotype HP:0005135 Abnormal T-wave HP:0005135 An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. https://orcid.org/0000-0002-0736-9199 Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. UMLS:C1835130 Premature calcification of mitral annulus human_phenotype HP:0005136 MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual. Mitral annular calcification HP:0005136 Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. PMID:23587525 https://orcid.org/0000-0002-0736-9199 true HP:0005137 true HP:0005138 true HP:0005139 true HP:0005140 HP:0004751 human_phenotype HP:0005141 obsolete Episodes of ventricular tachycardia true HP:0005141 true HP:0005142 The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. SNOMEDCT_US:253634009 UMLS:C0345037 human_phenotype HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta HP:0005143 The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. HPO_CONTRIBUTOR:DDD_dbrown The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. UMLS:C1845019 Thickened interventricular septum human_phenotype HP:0005144 Ventricular septal hypertrophy HP:0005144 The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. PMID:21349577 http://www.heart.org/HEARTORG/Conditions/More/Cardiomyopathy/Hypertrophic-Cardiomyopathy_UCM_444317_Article.jsp#.WmePRJM-dL4 Abnormal narrowing of the coronary artery. SNOMEDCT_US:233970002 UMLS:C0242231 Narrowing of coronary artery human_phenotype HP:0005145 Coronary artery stenosis HP:0005145 Narrowing of coronary artery https://orcid.org/0000-0001-5208-3432 Abnormal calcification of a cardiac valve. UMLS:C1856483 Calcifications of the cardiac valves human_phenotype HP:0005146 Cardiac valve calcification HP:0005146 Abnormal calcification of a cardiac valve. https://orcid.org/0000-0002-0736-9199 UMLS:C1969410 human_phenotype HP:0005147 Bidirectional ventricular ectopy HP:0005147 Any defect in the valve connecting the heart and the pulmonary artery. UMLS:C1860165 human_phenotype HP:0005148 Pulmonary valve defects HP:0005148 true HP:0005149 An impairment of the electrical continuity between the atria and ventricles. UMLS:C4025244 human_phenotype HP:0005150 Abnormal atrioventricular conduction HP:0005150 An impairment of the electrical continuity between the atria and ventricles. PMID:15372490 Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. SNOMEDCT_US:13867009 UMLS:C0265878 Proximal aortic coarctation human_phenotype HP:0005151 Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. Preductal coarctation of the aorta HP:0005151 Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. HPO_CONTRIBUTOR:DDD_dbrown A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. UMLS:C1708371 Arachnocytosis of the myocardium Foamy myocardial transformation Focal lipid cardiomyopathy Infantile cardiomyopathy with histiocytoid changes Infantile xanthomatous cardiomyopathy Isolated cardiac lipidosis Myocardial or conduction system hamartoma Oncocytic cardiomyopathy human_phenotype HP:0005152 This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years. Histiocytoid cardiomyopathy HP:0005152 A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. PMID:21585276 PMID:28050600 true HP:0005153 true HP:0005154 A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). SNOMEDCT_US:81898007 UMLS:C0232216 Idioventricular escape rhythm human_phenotype HP:0005155 Ventricular escape rhythm HP:0005155 Underdeveloped, small left heart atrium Fyler:3040 UMLS:C1970625 Left atrium hypoplasia Underdeveloped left heart atrium human_phenotype HP:0005156 Hypoplastic left atrium HP:0005156 Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. HP:0001672 UMLS:C0238044 Symmetric, concentric, hypertrophic cardiomyopathy human_phenotype HP:0005157 Concentric hypertrophic cardiomyopathy HP:0005157 Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. https://orcid.org/0000-0002-0736-9199 true HP:0005158 true HP:0005159 Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. HP:0005153 HP:0005175 Fyler:0900 Fyler:900 SNOMEDCT_US:111323005 SNOMEDCT_US:39905002 UMLS:C0036400 TAPVC TAPVD TAPVR Total anomalous pulmonary venous connection Total anomalous pulmonary venous drainage human_phenotype HP:0005160 Pulmonary veins drain through abnormal connections to the right atrium. Total anomalous pulmonary venous return HP:0005160 Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. https://orcid.org/0000-0002-0736-9199 TAPVC TAPVD TAPVR true HP:0005161 Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. HP:0005154 SNOMEDCT_US:275514001 SNOMEDCT_US:85232009 UMLS:C0023212 UMLS:C0553982 Impaired left ventricular function Left ventricular dysfunction Left ventricular failure Left ventricular impairment Left-sided heart failure human_phenotype HP:0005162 Abnormal left ventricular function HP:0005162 Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. PMID:10956313 http://www.heart.org/HEARTORG/Conditions/HeartFailure/AboutHeartFailure/Types-of-Heart-Failure_UCM_306323_Article.jsp#.WmeKyJM-dL4 true HP:0005163 A congenital malformation of the pulmonary valve characterized by leaflet deformation. UMLS:C1866206 Dysplasia of pulmonary valve Pulmonary valve dysplasia human_phenotype HP:0005164 Dysplastic pulmonary valve HP:0005164 A congenital malformation of the pulmonary valve characterized by leaflet deformation. PMID:7704986 Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. SNOMEDCT_US:49578007 UMLS:C0520878 Electrocardiographic short PR interval Short P-R interval Shortened PR interval on EKG human_phenotype HP:0005165 Shortened PR interval HP:0005165 Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. https://orcid.org/0000-0002-0736-9199 true HP:0005166 true HP:0005167 An abnormal increase in magnitude of the pressure in the right atrium. UMLS:C1867421 human_phenotype HP:0005168 Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization. Elevated right atrial pressure HP:0005168 An abnormal increase in magnitude of the pressure in the right atrium. PMID:25211049 true HP:0005169 A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. UMLS:C1861987 human_phenotype HP:0005170 Complete heart block with broad QRS complexes HP:0005170 true HP:0005171 Conduction block in the posterior division of the left bundle branch of the bundle of His. SNOMEDCT_US:62026008 UMLS:C0264913 Left posterior hemiblock human_phenotype HP:0005172 Left posterior fascicular block HP:0005172 Conduction block in the posterior division of the left bundle branch of the bundle of His. https://orcid.org/0000-0002-0736-9199 HP:0004380 human_phenotype HP:0005173 obsolete Calcific aortic valve stenosis true HP:0005173 Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. UMLS:C1848978 human_phenotype HP:0005174 An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. Membranous subvalvular aortic stenosis HP:0005174 Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency. PMID:5817839 https://orcid.org/0000-0002-0736-9199 true HP:0005175 A congenital malformation of the aortic valve characterized by leaflet deformation. UMLS:C1866207 human_phenotype HP:0005176 Dysplastic aortic valve HP:0005176 A congenital malformation of the aortic valve characterized by leaflet deformation. PMID:21349746 Arteriosclerosis occurring at an age that is younger than usual. Premature hardening of arteries UMLS:C1848486 UMLS:C4280503 human_phenotype HP:0005177 Premature arteriosclerosis HP:0005177 Arteriosclerosis occurring at an age that is younger than usual. https://orcid.org/0000-0002-0736-9199 Premature hardening of arteries https://orcid.org/0000-0001-5208-3432 A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex. UMLS:C1841661 human_phenotype HP:0005178 Complete heart block with narrow QRS complexes HP:0005178 true HP:0005179 Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. HP:0004753 Fyler:1161 SNOMEDCT_US:111287006 UMLS:C0040961 Tricuspid insufficiency Tricuspid valve regurgitation human_phenotype HP:0005180 This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). Tricuspid regurgitation HP:0005180 Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. https://orcid.org/0000-0002-0736-9199 Tricuspid valve regurgitation https://orcid.org/0000-0001-5208-3432 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. UMLS:C1867743 Premature coronary artery disease human_phenotype HP:0005181 Premature coronary artery atherosclerosis HP:0005181 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. PMID:28070240 Premature coronary artery disease The presence of a bicuspid pulmonary valve. Fyler:1601 SNOMEDCT_US:253599005 UMLS:C0344987 human_phenotype HP:0005182 The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. Bicuspid pulmonary valve HP:0005182 The presence of a bicuspid pulmonary valve. https://orcid.org/0000-0002-0736-9199 An abnormal dilatation of lymph vessels in the pericardium. UMLS:C1856140 human_phenotype HP:0005183 Pericardial lymphangiectasia HP:0005183 An abnormal dilatation of lymph vessels in the pericardium. PMID:18391124 A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. UMLS:C1560305 human_phenotype HP:0005184 Prolonged QTc interval HP:0005184 A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. PMID:24097136 A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. UMLS:C1847397 human_phenotype HP:0005185 Global systolic dysfunction HP:0005185 A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly. PMID:24173273 PMID:7713107 Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. SNOMEDCT_US:240206002 UMLS:C0410574 Synovial hyperplasia Synovial hypertrophy human_phenotype HP:0005186 Synovial hyperplasia is a frequent clinical finding in patients with joint injury and other joint disorders. Synovial lining hyperplasia HP:0005186 Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically. PMID:27412524 PMID:30618151 UMLS:C4025243 human_phenotype HP:0005187 Progressive joint destruction HP:0005187 true HP:0005188 true HP:0005189 UMLS:C4025242 human_phenotype HP:0005190 Proximal finger joint hyperextensibility HP:0005190 SNOMEDCT_US:59068006 UMLS:C0265669 Dislocated knee since birth human_phenotype HP:0005191 Congenital knee dislocation HP:0005191 Dislocated knee since birth https://orcid.org/0000-0001-5208-3432 true HP:0005192 UMLS:C4025241 human_phenotype HP:0005193 Restricted large joint movement HP:0005193 Abnormally flat shape of the heads of the metatarsal bones. UMLS:C4025240 Flattened head of long bone of foot human_phenotype HP:0005194 The metatarsal heads articulate with the proximal phalanges of the toes. Flattened metatarsal heads HP:0005194 Abnormally flat shape of the heads of the metatarsal bones. https://orcid.org/0000-0002-0736-9199 Flattened head of long bone of foot https://orcid.org/0000-0001-5208-3432 UMLS:C4025239 human_phenotype HP:0005195 Polyarticular arthropathy HP:0005195 true HP:0005196 A sensation of stiffness in the joints that occurs following waking up in the morning. UMLS:C4025238 Generalised morning stiffness human_phenotype HP:0005197 Generalized morning stiffness HP:0005197 A sensation of stiffness in the joints that occurs following waking up in the morning. https://orcid.org/0000-0002-0736-9199 Generalised morning stiffness Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. UMLS:C4025237 Stiff hinge joints human_phenotype HP:0005198 Stiff interphalangeal joints HP:0005198 Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. https://orcid.org/0000-0002-0736-9199 Stiff hinge joints https://orcid.org/0000-0001-5208-3432 Absence of the abdominal musculature. UMLS:C3149223 Absent abdominal musculature human_phenotype HP:0005199 Aplasia of the abdominal wall musculature HP:0005199 Absence of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:49120005 UMLS:C0035357 human_phenotype HP:0005200 Retroperitoneal fibrosis HP:0005200 UMLS:C4025236 human_phenotype HP:0005201 Anomalous splenoportal venous system HP:0005201 A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. UMLS:C0850666 human_phenotype HP:0005202 The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts. Helicobacter pylori infection HP:0005202 A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. PMID:23652324 The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. HP:0005251 SNOMEDCT_US:19995004 UMLS:C0238115 Spontaneous esophageal rupture human_phenotype Boerhaave syndrome HP:0005203 Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. Spontaneous esophageal perforation HP:0005203 The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. https://orcid.org/0000-0002-0736-9199 true HP:0005204 true HP:0005205 Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. SNOMEDCT_US:111374002 UMLS:C0030299 human_phenotype HP:0005206 Pancreatic pseudocyst HP:0005206 Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. https://orcid.org/0000-0002-0736-9199 Hypertrophy of the stomach. Increased stomach size UMLS:C1834341 UMLS:C4280502 human_phenotype HP:0005207 Gastric hypertrophy HP:0005207 Hypertrophy of the stomach. https://orcid.org/0000-0002-0736-9199 Increased stomach size https://orcid.org/0000-0001-5208-3432 Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. SNOMEDCT_US:15699003 UMLS:C0267557 Secretory diarrhoea human_phenotype HP:0005208 Secretory diarrhea HP:0005208 Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. https://orcid.org/0000-0002-0736-9199 Secretory diarrhoea The presence of cyst of the intrahepatic bile duct. SNOMEDCT_US:235925007 UMLS:C0400991 human_phenotype HP:0005209 Intrahepatic bile duct cysts HP:0005209 The presence of cyst of the intrahepatic bile duct. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the colon. UMLS:C1392839 Hypoplasia of the colon Underdeveloped colon human_phenotype HP:0005210 Hypoplastic colon HP:0005210 Underdevelopment of the colon. https://orcid.org/0000-0002-0736-9199 Underdeveloped colon https://orcid.org/0000-0001-5208-3432 UMLS:C1849706 human_phenotype HP:0005211 Midgut malrotation HP:0005211 Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. UMLS:C1844632 human_phenotype HP:0005212 Anal mucosal leukoplakia HP:0005212 Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. PMID:13316552 https://orcid.org/0000-0002-0736-9199 The presence of abnormal calcium deposition lesions in the pancreas. UMLS:C1842406 Pancreatic calcifications human_phenotype HP:0005213 Pancreatic calcification HP:0005213 The presence of abnormal calcium deposition lesions in the pancreas. https://orcid.org/0000-0002-0736-9199 Pancreatic calcifications Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. HP:0005239 SNOMEDCT_US:81060008 UMLS:C0021843 Bowel obstruction Intestinal blockage Intestinal obstruction human_phenotype HP:0005214 Intestinal obstruction HP:0005214 Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. https://orcid.org/0000-0002-0736-9199 Bowel obstruction https://orcid.org/0000-0001-5208-3432 Intestinal blockage https://orcid.org/0000-0001-5208-3432 Intestinal obstruction Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. UMLS:C4025235 human_phenotype HP:0005215 Frequent Giardia lamblia infestation HP:0005215 Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. https://orcid.org/0000-0002-0736-9199 An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. SNOMEDCT_US:162020001 UMLS:C0239043 Chewing difficulties Chewing difficulty Difficulty chewing human_phenotype HP:0005216 Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia. Impaired mastication HP:0005216 An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. PMID:23713640 Chewing difficulties Chewing difficulty Difficulty chewing A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen. UMLS:C4025234 human_phenotype HP:0005217 Abdominal organ duplication HP:0005217 The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. Perianal fistula UMLS:C1835798 human_phenotype HP:0005218 Anoperineal fistula HP:0005218 The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. https://orcid.org/0000-0002-0736-9199 Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. UMLS:C4021641 Intrinsic factor absent from gastric juice human_phenotype HP:0005219 This feature can be ascertained by immunoassay of gastric juices. Absence of intrinsic factor HP:0005219 Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. https://orcid.org/0000-0002-0736-9199 UMLS:C4025233 human_phenotype HP:0005220 Multiple intestinal neurofibromatosis HP:0005220 true HP:0005221 The presence of multiple diverticula of the intestine. UMLS:C1394691 UMLS:C1395674 human_phenotype Bowel diverticula HP:0005222 Bowel diverticulosis HP:0005222 The presence of multiple diverticula of the intestine. https://orcid.org/0000-0002-0736-9199 UMLS:C1850328 human_phenotype HP:0005223 Duplicated colon HP:0005223 A collection of pus in the area of the rectum. HP:0002567 SNOMEDCT_US:197166005 SNOMEDCT_US:91669008 UMLS:C0149770 UMLS:C0267566 Perirectal abscess human_phenotype HP:0005224 Rectal abscess HP:0005224 A collection of pus in the area of the rectum. https://orcid.org/0000-0002-0736-9199 Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. UMLS:C1142262 Intestinal oedema human_phenotype HP:0005225 This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. Intestinal edema HP:0005225 Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. https://orcid.org/0000-0002-0736-9199 Intestinal oedema true HP:0005226 Presence of multiple adenomatous polyps in the colon. HP:0005226 MEDDRA:10056981 UMLS:C1868071 Multiple adenomatous colon polyps Multiple colonic adenomatous polyps human_phenotype HP:0005227 Adenomatous colonic polyposis HP:0005227 Presence of multiple adenomatous polyps in the colon. https://orcid.org/0000-0002-0736-9199 MEDDRA:10056981 Adenomatous polyposis coli true HP:0005228 UMLS:C4025232 human_phenotype HP:0005229 Jejunoileal ulceration HP:0005229 Obstruction affecting the biliary tree. SNOMEDCT_US:235918000 UMLS:C0400979 human_phenotype HP:0005230 Biliary tract obstruction HP:0005230 Obstruction affecting the biliary tree. https://orcid.org/0000-0002-0736-9199 A chronic form of gastritis. SNOMEDCT_US:8493009 UMLS:C0085695 human_phenotype HP:0005231 Chronic gastritis HP:0005231 A chronic form of gastritis. https://orcid.org/0000-0002-0736-9199 The presence of developmental dysplasia of the pancreas. UMLS:C4019084 human_phenotype HP:0005232 Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. Pancreatic dysplasia HP:0005232 The presence of developmental dysplasia of the pancreas. https://orcid.org/0000-0002-0736-9199 The presence of a hypoplastic gallbladder. SNOMEDCT_US:93259002 UMLS:C0345282 Hypoplastic gallbladder human_phenotype HP:0005233 Hypoplasia of the gallbladder HP:0005233 The presence of a hypoplastic gallbladder. https://orcid.org/0000-0002-0736-9199 UMLS:C0859974 human_phenotype HP:0005234 Neonatal intestinal obstruction HP:0005234 A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. HP:0011101 SNOMEDCT_US:204702007 SNOMEDCT_US:360491009 UMLS:C0266175 human_phenotype HP:0005235 Jejunal atresia HP:0005235 A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. https://orcid.org/0000-0002-0736-9199 A form of chronic pancreatitis that is characterized by calcification. UMLS:C4025231 human_phenotype HP:0005236 Chronic calcifying pancreatitis HP:0005236 A form of chronic pancreatitis that is characterized by calcification. https://orcid.org/0000-0002-0736-9199 The presence of degenerative changes of the liver. UMLS:C4025230 human_phenotype HP:0005237 Degenerative liver disease HP:0005237 The presence of degenerative changes of the liver. https://orcid.org/0000-0002-0736-9199 UMLS:C4025229 human_phenotype HP:0005238 Discrete intestinal polyps HP:0005238 true HP:0005239 SNOMEDCT_US:405247003 UMLS:C0239296 human_phenotype HP:0005240 Esophageal obstruction HP:0005240 A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. SNOMEDCT_US:204745000 UMLS:C0345240 human_phenotype HP:0005241 Total intestinal aganglionosis HP:0005241 A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel. PMID:596929 https://orcid.org/0000-0002-0736-9199 Atresia in the extrahepatic bile duct. HP:0006553 SNOMEDCT_US:77480004 SNOMEDCT_US:82821008 UMLS:C0005411 Biliary atresia, extrahepatic human_phenotype HP:0005242 Extrahepatic biliary duct atresia HP:0005242 Atresia in the extrahepatic bile duct. https://orcid.org/0000-0002-0736-9199 Failure to form of portions of the abdominal musculature. UMLS:C4025228 human_phenotype HP:0005243 Partial abdominal muscle agenesis HP:0005243 Failure to form of portions of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 UMLS:C3152231 Death of digestive organ tissue due to poor blood supply GI infarctions human_phenotype HP:0005244 Gastrointestinal infarctions HP:0005244 Death of digestive organ tissue due to poor blood supply https://orcid.org/0000-0002-6548-5200 GI infarctions Developmental hypoplasia of the intestine. UMLS:C4021640 Hypoplastic intestines Underdeveloped instestine human_phenotype HP:0005245 Intestinal hypoplasia HP:0005245 Developmental hypoplasia of the intestine. https://orcid.org/0000-0002-0736-9199 Underdeveloped instestine https://orcid.org/0000-0001-5208-3432 A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. SNOMEDCT_US:413219009 SNOMEDCT_US:60002000 UMLS:C0017155 human_phenotype Menetrier disease HP:0005246 Giant hypertrophic gastritis HP:0005246 A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the abdominal musculature. UMLS:C3279407 Abdominal muscular hypoplasia human_phenotype HP:0005247 Hypoplasia of the abdominal wall musculature HP:0005247 Underdevelopment of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 Atresia in the intrahepatic bile duct. UMLS:C1855284 Bile duct paucity Intrahepatic atresia of biliary duct human_phenotype HP:0005248 Intrahepatic biliary atresia HP:0005248 Atresia in the intrahepatic bile duct. https://orcid.org/0000-0002-0736-9199 Bile duct paucity PMID:6981794 https://orcid.org/0000-0001-5208-3432 UMLS:C3639956 human_phenotype HP:0005249 Functional intestinal obstruction HP:0005249 UMLS:C4025227 human_phenotype HP:0005250 High intestinal obstruction HP:0005250 true HP:0005251 true HP:0005252 UMLS:C1848760 Increased anterioposterior diameter of chest human_phenotype HP:0005253 Increased anterioposterior diameter of thorax HP:0005253 UMLS:C1845576 Small chest on one side Underdeveloped chest on one side human_phenotype HP:0005254 Unilateral chest hypoplasia HP:0005254 Small chest on one side https://orcid.org/0000-0001-5208-3432 Underdeveloped chest on one side https://orcid.org/0000-0001-5208-3432 Aplasia (congenital absence) of the pectoralis minor. UMLS:C1868158 Pectoralis minor aplasia human_phenotype HP:0005255 Absence of pectoralis minor muscle HP:0005255 Aplasia (congenital absence) of the pectoralis minor. https://orcid.org/0000-0002-0736-9199 Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. UMLS:C4021639 Unilateral aplasia of pectoralis major muscle human_phenotype HP:0005256 Unilateral absence of pectoralis major muscle HP:0005256 Aplasia (congenital absence) of the pectoralis minor on only one side of the chest. https://orcid.org/0000-0002-0736-9199 HP:0001590 UMLS:C1837482 Small chest Small thorax human_phenotype HP:0005257 Thoracic hypoplasia HP:0005257 Small chest Small thorax UMLS:C4025226 Small/absent pec muscle Underdeveloped/absent pec muscle human_phenotype HP:0005258 Pectoral muscle hypoplasia/aplasia HP:0005258 Small/absent pec muscle https://orcid.org/0000-0001-5208-3432 Underdeveloped/absent pec muscle https://orcid.org/0000-0001-5208-3432 Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest. UMLS:C1861517 human_phenotype HP:0005259 This feature is characteristic of cleidocranial dysplasia. See Figure 2 of PMID:23289840 Abnormal facility in opposing the shoulders HP:0005259 Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest. PMID:23289840 true HP:0005260 Hemorrhage occurring within a joint. 2008-03-26T04:27:00Z HP:0001391 HP:0005196 SNOMEDCT_US:81808003 UMLS:C0018924 Bleeding within a joint Hemarthroses Hemarthrosis Joint hemorrhage Spontaneous joint haemorrhage Spontaneous joint hemorrhage human_phenotype HP:0005261 Joint hemorrhage HP:0005261 Hemorrhage occurring within a joint. HPO_CONTRIBUTOR:gcarletti Bleeding within a joint https://orcid.org/0000-0001-5208-3432 Hemarthrosis Spontaneous joint haemorrhage Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products. 2008-03-26T04:27:00Z UMLS:C4025225 human_phenotype HP:0005262 Abnormal synovial membrane morphology HP:0005262 Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products. PMID:27412524 The presence of inflammation of the gastric mucous membrane. 2008-03-26T04:32:00Z MEDDRA:10017853 SNOMEDCT_US:4556007 UMLS:C0017152 Stomach inflammation human_phenotype HP:0005263 Gastritis HP:0005263 The presence of inflammation of the gastric mucous membrane. https://orcid.org/0000-0002-0736-9199 MEDDRA:10017853 Gastritis Stomach inflammation https://orcid.org/0000-0001-5208-3432 An abnormality of the gallbladder. 2008-03-26T04:40:00Z SNOMEDCT_US:253803008 SNOMEDCT_US:49714001 UMLS:C0266249 Abnormality of the gallbladder Anomaly of the gallbladder human_phenotype HP:0005264 Abnormality of the gallbladder HP:0005264 An abnormality of the gallbladder. https://orcid.org/0000-0002-0736-9199 Abnormality of the gallbladder An abnormality of the jejunum, i.e., of the middle section of the small intestine. 2008-03-26T04:44:00Z UMLS:C4025224 Abnormality of the jejunum human_phenotype HP:0005265 Abnormal jejunum morphology HP:0005265 An abnormality of the jejunum, i.e., of the middle section of the small intestine. https://orcid.org/0000-0002-0736-9199 A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. 2008-03-26T04:46:00Z SNOMEDCT_US:254588001 UMLS:C0021846 Intestinal polyps human_phenotype HP:0005266 Intestinal polyp HP:0005266 A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. https://orcid.org/0000-0002-0736-9199 UMLS:C1851808 human_phenotype HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility HP:0005267 A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. SNOMEDCT_US:17369002 UMLS:C0000786 Early fetal demise Early foetal demise Spontaneous abortion human_phenotype HP:0005268 The age at which fetal demise is legally classified asa a miscarriage varies between countries with the US being 20 gestational weeks and the UK being 24 gestational weeks. The HPO chooses the average of these age ranges. Miscarriage HP:0005268 A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. https://orcid.org/0000-0002-0736-9199 Early foetal demise true HP:0005269 true HP:0005270 true HP:0005271 Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). UMLS:C1866487 Deep laugh lines Deep nasolabial crease Deep nasolabial fold Deep nasolabial groove Deep smile lines Nasolabial crease, prominent Prominent laugh lines Prominent nasolabial groove Prominent smile lines human_phenotype HP:0005272 Prominent nasolabial fold HP:0005272 Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). PMID:19125428 Deep laugh lines https://orcid.org/0000-0001-5889-4463 Deep nasolabial crease https://orcid.org/0000-0001-5889-4463 Deep nasolabial fold https://orcid.org/0000-0001-5889-4463 Deep nasolabial groove https://orcid.org/0000-0001-5889-4463 Deep smile lines https://orcid.org/0000-0001-5889-4463 Prominent laugh lines https://orcid.org/0000-0001-5889-4463 Prominent nasolabial groove https://orcid.org/0000-0001-5889-4463 Prominent smile lines https://orcid.org/0000-0001-5889-4463 Lack of the cartilage of the nasal septum. UMLS:C4021638 UMLS:C4280501 Absent nasal septal cartilage Absent nasal septum Ageneis of nasal septal cartilage Failure of development of nasal septal cartilage human_phenotype HP:0005273 Absent nasal septal cartilage HP:0005273 Lack of the cartilage of the nasal septum. https://orcid.org/0000-0002-0736-9199 Absent nasal septal cartilage Absent nasal septum Ageneis of nasal septal cartilage https://orcid.org/0000-0001-5889-4463 Failure of development of nasal septal cartilage https://orcid.org/0000-0001-5889-4463 UMLS:C1856118 UMLS:C4280498 UMLS:C4280499 UMLS:C4280500 Large nasal tip Large tip of nose Prominent nasal tip Prominent tip of nose Pronounced nasal tip Pronounced tip of nose Bulbous tip of nose human_phenotype Hyperplasia of nasal tip Hyperplasia of tip of nose Hypertrophy of nasal tip Hypertrophy of tip of nose HP:0005274 Prominent nasal tip HP:0005274 Large nasal tip https://orcid.org/0000-0001-5889-4463 Large tip of nose https://orcid.org/0000-0001-5889-4463 Prominent nasal tip Prominent tip of nose https://orcid.org/0000-0001-5889-4463 Pronounced nasal tip https://orcid.org/0000-0001-5889-4463 Pronounced tip of nose https://orcid.org/0000-0001-5889-4463 Bulbous tip of nose https://orcid.org/0000-0001-5889-4463 Hyperplasia of nasal tip https://orcid.org/0000-0001-5889-4463 Hyperplasia of tip of nose https://orcid.org/0000-0001-5889-4463 Hypertrophy of nasal tip https://orcid.org/0000-0001-5889-4463 Hypertrophy of tip of nose https://orcid.org/0000-0001-5889-4463 UMLS:C1855616 Cartilaginous nasal ossification human_phenotype HP:0005275 Cartilaginous ossification of nose HP:0005275 Cartilaginous nasal ossification https://orcid.org/0000-0001-5889-4463 true HP:0005276 true HP:0005277 UMLS:C1844731 UMLS:C4280496 UMLS:C4280497 Decreased size of nasal tip Decreased size of tip of nose Hypoplasia of tip of nose Small nasal tip Small tip of nose Underdevelopment of nasal tip Underdevelopment of tip of nose Aplasia of nasal tip human_phenotype Deficient nasal tip Hypotrophic nasal tip Hypotrophic tip of nose HP:0005278 Hypoplastic nasal tip HP:0005278 Decreased size of nasal tip https://orcid.org/0000-0001-5889-4463 Decreased size of tip of nose https://orcid.org/0000-0001-5889-4463 Hypoplasia of tip of nose https://orcid.org/0000-0001-5889-4463 Small nasal tip https://orcid.org/0000-0001-5889-4463 Small tip of nose https://orcid.org/0000-0001-5889-4463 Underdevelopment of nasal tip https://orcid.org/0000-0001-5889-4463 Underdevelopment of tip of nose https://orcid.org/0000-0001-5889-4463 Aplasia of nasal tip https://orcid.org/0000-0001-5889-4463 Deficient nasal tip https://orcid.org/0000-0001-5889-4463 Hypotrophic nasal tip https://orcid.org/0000-0001-5889-4463 Hypotrophic tip of nose https://orcid.org/0000-0001-5889-4463 true HP:0005279 Posterior positioning of the nasal root in relation to the overall facial profile for age. HP:0000425 HP:0000428 HP:0000439 HP:0000459 HP:0004413 HP:0004505 HP:0004506 HP:0004666 HP:0005119 HP:0005284 UMLS:C1836542 UMLS:C3550546 UMLS:C4280495 Depressed bridge of nose Depressed nasal bridge Depressed nasal root Flat bridge of nose Flat nasal bridge Flat nasal root Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root Retruded bridge of nose Retruded nasal bridge human_phenotype Concave bridge of nose Concave nasal bridge Depressed nasal root/bridge HP:0005280 The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. Depressed nasal bridge HP:0005280 Posterior positioning of the nasal root in relation to the overall facial profile for age. PMID:19152422 Depressed bridge of nose https://orcid.org/0000-0001-5889-4463 Depressed nasal bridge Flat bridge of nose https://orcid.org/0000-0001-5889-4463 Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root https://orcid.org/0000-0002-5316-1399 Retruded bridge of nose https://orcid.org/0000-0001-5889-4463 Retruded nasal bridge https://orcid.org/0000-0001-5889-4463 Concave bridge of nose https://orcid.org/0000-0001-5889-4463 Concave nasal bridge https://orcid.org/0000-0001-5889-4463 Depressed nasal root/bridge https://orcid.org/0000-0002-5316-1399 UMLS:C1865597 UMLS:C4280494 Decreased size of bridge of nose Decreased size of nasal bridge Hypoplastic bridge of nose Small bridge of nose Small nasal bridge human_phenotype Hypotrophic bridge of nose Hypotrophic nasal bridge HP:0005281 Hypoplastic nasal bridge HP:0005281 Decreased size of bridge of nose https://orcid.org/0000-0001-5889-4463 Decreased size of nasal bridge https://orcid.org/0000-0001-5889-4463 Hypoplastic bridge of nose https://orcid.org/0000-0001-5889-4463 Small bridge of nose https://orcid.org/0000-0001-5889-4463 Small nasal bridge https://orcid.org/0000-0001-5889-4463 Hypotrophic bridge of nose https://orcid.org/0000-0001-5889-4463 Hypotrophic nasal bridge https://orcid.org/0000-0001-5889-4463 true HP:0005282 true HP:0005283 true HP:0005284 UMLS:C1837888 Absent bridge of nose Absent nasal bridge Agenesis of bridge of nose Agenesis of nasal bridge Missing bridge of nose Missing nasal bridge human_phenotype HP:0005285 Absent nasal bridge HP:0005285 Absent bridge of nose https://orcid.org/0000-0001-5889-4463 Absent nasal bridge Agenesis of bridge of nose https://orcid.org/0000-0001-5889-4463 Agenesis of nasal bridge https://orcid.org/0000-0001-5889-4463 Missing bridge of nose https://orcid.org/0000-0001-5889-4463 Missing nasal bridge https://orcid.org/0000-0001-5889-4463 true HP:0005286 true HP:0005287 Abnormality of the nostril. 2008-03-26T06:04:00Z UMLS:C4021637 Abnormal naris morphology Abnormality of the nares Abnormality of the nostrils Anomaly of the nares Deformity of the nares Deformity of the nostrils Malformation of the nares Malformation of the nostrils human_phenotype HP:0005288 Abnormal nostril morphology HP:0005288 Abnormality of the nostril. https://orcid.org/0000-0002-0736-9199 Abnormality of the nostrils Anomaly of the nares https://orcid.org/0000-0001-5889-4463 Deformity of the nares https://orcid.org/0000-0001-5889-4463 Deformity of the nostrils https://orcid.org/0000-0001-5889-4463 Malformation of the nares https://orcid.org/0000-0001-5889-4463 Malformation of the nostrils https://orcid.org/0000-0001-5889-4463 2008-03-26T06:07:00Z UMLS:C4025223 Abnormality of the nasolabial region Anomaly of the nasolabial region Deformity of the nasolabial region Malformation of the nasolabial region human_phenotype HP:0005289 Abnormal nasolabial region morphology HP:0005289 Anomaly of the nasolabial region https://orcid.org/0000-0001-5889-4463 Deformity of the nasolabial region https://orcid.org/0000-0001-5889-4463 Malformation of the nasolabial region https://orcid.org/0000-0001-5889-4463 UMLS:C1855736 UMLS:C4280491 UMLS:C4280492 UMLS:C4280493 Decreased size of internal carotid artery Small internal carotid artery Aplasia of internal carotid artery human_phenotype Deficiency of internal carotid artery Hypotrophic internal carotid artery HP:0005290 Internal carotid artery hypoplasia HP:0005290 Decreased size of internal carotid artery https://orcid.org/0000-0001-5889-4463 Small internal carotid artery https://orcid.org/0000-0001-5889-4463 Aplasia of internal carotid artery https://orcid.org/0000-0001-5889-4463 Deficiency of internal carotid artery https://orcid.org/0000-0001-5889-4463 Hypotrophic internal carotid artery https://orcid.org/0000-0001-5889-4463 UMLS:C4025222 human_phenotype HP:0005291 Inflammatory arteriopathy HP:0005291 UMLS:C1968633 human_phenotype HP:0005292 Intimal thickening in the coronary arteries HP:0005292 SNOMEDCT_US:20696009 UMLS:C0042485 Poorly functioning veins human_phenotype HP:0005293 Venous insufficiency HP:0005293 Poorly functioning veins https://orcid.org/0000-0002-6548-5200 A separation (dissection) of the layers of an artery. SNOMEDCT_US:233992003 SNOMEDCT_US:26845001 SNOMEDCT_US:710864009 SNOMEDCT_US:9406001 UMLS:C0002949 human_phenotype HP:0005294 Arterial dissection HP:0005294 A separation (dissection) of the layers of an artery. https://orcid.org/0000-0002-0736-9199 Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. SNOMEDCT_US:70602002 UMLS:C0345088 human_phenotype HP:0005295 Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. Pseudocoarctation of the aorta HP:0005295 Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum. PMID:17593995 PMID:18651460 https://orcid.org/0000-0002-0736-9199 HP:0004950 human_phenotype HP:0005296 obsolete Occlusive vascular disease true HP:0005296 Peripheral arterial stenosis with onset before the age of 50 years. UMLS:C1867457 human_phenotype HP:0005297 Premature occlusive vascular stenosis HP:0005297 HP:0006695 human_phenotype HP:0005298 obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia true HP:0005298 HP:0004950 human_phenotype HP:0005299 obsolete Premature peripheral vascular disease true HP:0005299 UMLS:C4025219 human_phenotype HP:0005300 Nodular inflammatory vasculitis HP:0005300 A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. SNOMEDCT_US:77978002 UMLS:C0265931 PLSVC human_phenotype HP:0005301 Persistent left superior vena cava HP:0005301 A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. PMID:18847480 PLSVC Abnormal tortuous (i.e., twisted) form of the carotid arteries. SNOMEDCT_US:401051003 UMLS:C1303076 Tortuous carotid arteries human_phenotype HP:0005302 Carotid artery tortuosity HP:0005302 Abnormal tortuous (i.e., twisted) form of the carotid arteries. https://orcid.org/0000-0002-0736-9199 Calcification, that is, pathological deposition of calcium salts in the arch of aorta. UMLS:C1969291 human_phenotype HP:0005303 Aortic arch calcification HP:0005303 Calcification, that is, pathological deposition of calcium salts in the arch of aorta. https://orcid.org/0000-0002-0736-9199 UMLS:C1970501 Underdeveloped lung veins human_phenotype HP:0005304 Hypoplastic pulmonary veins HP:0005304 Underdeveloped lung veins https://orcid.org/0000-0001-5208-3432 Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. SNOMEDCT_US:95455008 UMLS:C0151945 Blood clot in cerebral vein Cerebral thrombosis Cerebral vein thrombosis human_phenotype HP:0005305 Cerebral venous thrombosis HP:0005305 Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. https://orcid.org/0000-0002-0736-9199 Blood clot in cerebral vein https://orcid.org/0000-0001-6908-9849 The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. SNOMEDCT_US:195382003 SNOMEDCT_US:254206003 SNOMEDCT_US:402867006 SNOMEDCT_US:56975005 SNOMEDCT_US:83343001 UMLS:C0206733 Capillary hemangiomata Strawberry birthmark human_phenotype HP:0005306 Capillary hemangioma HP:0005306 The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. https://orcid.org/0000-0002-0736-9199 Capillary hemangiomata Strawberry birthmark https://orcid.org/0000-0002-6548-5200 UMLS:C1850438 human_phenotype HP:0005307 Postural hypotension with compensatory tachycardia HP:0005307 UMLS:C1867424 human_phenotype HP:0005308 Pulmonary artery vasoconstriction HP:0005308 HP:0004950 human_phenotype HP:0005309 obsolete Peripheral vascular insufficiency true HP:0005309 A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. UMLS:C4025218 human_phenotype HP:0005310 Large vessel vasculitis HP:0005310 A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. PMID:16088500 https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by the lack of formation of the pulmonary blood vessels. UMLS:C1970630 Absent lung vessels human_phenotype HP:0005311 Agenesis of pulmonary vessels HP:0005311 Absent lung vessels https://orcid.org/0000-0001-5208-3432 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. UMLS:C4025217 human_phenotype HP:0005312 Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. Pulmonary aterial intimal fibrosis HP:0005312 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. https://orcid.org/0000-0002-0736-9199 An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. SNOMEDCT_US:31653004 SNOMEDCT_US:359553002 UMLS:C0016052 human_phenotype HP:0005313 Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus. Arterial fibromuscular dysplasia HP:0005313 An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. PMID:27939641 UMLS:C1847886 human_phenotype HP:0005314 Anomalous branches of internal carotid artery HP:0005314 HP:0004950 human_phenotype HP:0005315 obsolete Peripheral artery occlusive disease true HP:0005315 UMLS:C1848877 human_phenotype HP:0005316 Peripheral pulmonary vessel aplasia HP:0005316 Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. UMLS:C1867423 human_phenotype HP:0005317 Increased pulmonary vascular resistance HP:0005317 Inflammation of the blood vessels within the brain. SNOMEDCT_US:427020007 UMLS:C0238051 human_phenotype HP:0005318 Cerebral vasculitis HP:0005318 Inflammation of the blood vessels within the brain. https://orcid.org/0000-0002-0736-9199 true HP:0005319 UMLS:C3277426 Lack of facial fat below the skin human_phenotype HP:0005320 Lack of facial subcutaneous fat HP:0005320 Lack of facial fat below the skin https://orcid.org/0000-0001-5889-4463 A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. SNOMEDCT_US:82203000 UMLS:C0242387 Treacher Collins syndrome human_phenotype HP:0005321 Mandibulofacial dysostosis HP:0005321 A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. https://orcid.org/0000-0002-0736-9199 Treacher Collins syndrome https://orcid.org/0000-0001-5889-4463 UMLS:C4025216 UMLS:C4280489 UMLS:C4280490 Prominent nasal septum Prominent septum of nose Low hanging nasal septum Low hanging septum of nose Visible nasal septum Visible septum of nose human_phenotype HP:0005322 Prominent nasal septum HP:0005322 Prominent nasal septum Prominent septum of nose https://orcid.org/0000-0001-5889-4463 Low hanging nasal septum https://orcid.org/0000-0001-5889-4463 Low hanging septum of nose https://orcid.org/0000-0001-5889-4463 Visible nasal septum https://orcid.org/0000-0001-5889-4463 Visible septum of nose https://orcid.org/0000-0001-5889-4463 Unilateral overgrowth of facial tissues, including muscles, bones and skin. SNOMEDCT_US:10394003 SNOMEDCT_US:697962004 UMLS:C0016719 UMLS:C1399354 Enlargement of half of face Facial hemihypertophy Hemifacial enlargement Hypertrophy of half of face Increase in size of half of face Overgrowth of half of face human_phenotype Facial hemihyperplasia Friedreich's disease HP:0005323 Hemifacial hypertrophy HP:0005323 Unilateral overgrowth of facial tissues, including muscles, bones and skin. https://orcid.org/0000-0002-0736-9199 Enlargement of half of face https://orcid.org/0000-0001-5889-4463 Facial hemihypertophy https://orcid.org/0000-0001-5889-4463 Hemifacial enlargement https://orcid.org/0000-0001-5889-4463 Hypertrophy of half of face https://orcid.org/0000-0001-5889-4463 Increase in size of half of face https://orcid.org/0000-0001-5889-4463 Overgrowth of half of face https://orcid.org/0000-0001-5889-4463 Facial hemihyperplasia https://orcid.org/0000-0001-5889-4463 Friedreich's disease https://orcid.org/0000-0001-5889-4463 An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. UMLS:C4025215 Disturbance of facial expression human_phenotype HP:0005324 Disturbance of facial expression HP:0005324 An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. https://orcid.org/0000-0003-2958-5076 Disturbance of facial expression A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. UMLS:C1857455 Unusual hairline with hair growth on temples extending to lateral eyebrow human_phenotype HP:0005325 Extension of hair growth on temples to lateral eyebrow HP:0005325 A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the philtrum. HP:0005331 UMLS:C1856886 Small philtrum human_phenotype HP:0005326 Hypoplastic philtrum HP:0005326 Underdevelopment of the philtrum. https://orcid.org/0000-0002-0736-9199 Small philtrum https://orcid.org/0000-0001-5889-4463 UMLS:C1852476 Loss of facial expression human_phenotype HP:0005327 Loss of facial expression HP:0005327 Loss of facial expression A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. HP:0000335 HP:0005333 UMLS:C1857710 Aged facial appearance Premature aged appearance Prematurely aged face Prematurely aged facial appearance Wizened face human_phenotype HP:0005328 Progeroid facial appearance HP:0005328 A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. https://orcid.org/0000-0002-0736-9199 Premature aged appearance https://orcid.org/0000-0002-6548-5200 UMLS:C1855353 Fixed facial expression Unchanging facial expression human_phenotype HP:0005329 Fixed facial expression HP:0005329 Fixed facial expression Unchanging facial expression https://orcid.org/0000-0001-5889-4463 true HP:0005330 true HP:0005331 Recurrent partial dislocations of the mandible. UMLS:C1857011 human_phenotype HP:0005332 Recurrent mandibular subluxations HP:0005332 Recurrent partial dislocations of the mandible. https://orcid.org/0000-0002-0736-9199 true HP:0005333 true HP:0005334 UMLS:C4025214 Sleepy facial expression Somnolent facial expression human_phenotype HP:0005335 Sleepy facial expression HP:0005335 Sleepy facial expression Somnolent facial expression https://orcid.org/0000-0001-5889-4463 UMLS:C1969673 Darkening of the forehead human_phenotype HP:0005336 Forehead hyperpigmentation HP:0005336 Darkening of the forehead https://orcid.org/0000-0001-5889-4463 true HP:0005337 Decreased density/number and/or decreased diameter of lateral eyebrow hairs. HP:0004521 HP:0009923 UMLS:C1857206 Lateral hypoplasia of eyebrows Lateral thinning of eyebrows Laterally sparse eyebrow Laterally sparse eyebrows Limited hair on end of eyebrow human_phenotype Sparse lateral eyebrows HP:0005338 Abnormal sparseness of the eyebrows laterally. Sparse lateral eyebrow HP:0005338 Decreased density/number and/or decreased diameter of lateral eyebrow hairs. https://orcid.org/0000-0002-0736-9199 Laterally sparse eyebrows https://orcid.org/0000-0002-5316-1399 Limited hair on end of eyebrow https://orcid.org/0000-0002-6548-5200 Sparse lateral eyebrows https://orcid.org/0000-0002-5316-1399 An abnormality of the complement system. 2008-03-26T07:58:00Z HP:0025541 UMLS:C4025213 human_phenotype HP:0005339 The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. Abnormality of complement system HP:0005339 An abnormality of the complement system. PMID:19388161 https://orcid.org/0000-0002-0736-9199 UMLS:C1836904 human_phenotype HP:0005340 Spastic/hyperactive bladder HP:0005340 Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. UMLS:C4025212 human_phenotype HP:0005341 Autonomic bladder dysfunction HP:0005341 Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0005342 Underdevelopment of the urinary bladder. HP:0005342 UMLS:C1855335 Hypoplastic bladder Underdeveloped bladder human_phenotype HP:0005343 Hypoplasia of the bladder HP:0005343 Underdevelopment of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Underdeveloped bladder https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. 2008-03-26T06:37:00Z UMLS:C4025211 Abnormality of the carotid arteries human_phenotype HP:0005344 Abnormal carotid artery morphology HP:0005344 An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. 2008-03-26T06:40:00Z HP:0030971 UMLS:C4025210 human_phenotype Abnormality of the vena cava HP:0005345 Abnormal vena cava morphology HP:0005345 2008-03-26T06:44:00Z UMLS:C4025209 Abnormal facial expression human_phenotype HP:0005346 Abnormal facial expression HP:0005346 Abnormal facial expression Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. UMLS:C1863363 human_phenotype HP:0005347 Tracheal cartilaginous sleeve HP:0005347 Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes. PMID:25375853 Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. SNOMEDCT_US:58596002 UMLS:C0677600 human_phenotype HP:0005348 Inspiratory stridor HP:0005348 Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. https://orcid.org/0000-0002-0736-9199 Hypoplasia of the epiglottis. HP:0008746 UMLS:C1396772 Hypoplastic epiglottis human_phenotype HP:0005349 Hypoplasia of the epiglottis HP:0005349 Hypoplasia of the epiglottis. https://orcid.org/0000-0002-0736-9199 true HP:0005350 true HP:0005351 A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. UMLS:C4025208 Severe T-cell immunodeficiency human_phenotype HP:0005352 Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS). Severe T-cell immunodeficiency HP:0005352 A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. PMID:18755723 Severe T-cell immunodeficiency Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. UMLS:C4025207 Susceptibility to herpesvirus human_phenotype HP:0005353 Recurrent herpes HP:0005353 Susceptibility to herpesvirus HP:0011840 human_phenotype HP:0005354 obsolete Absent cellular immunity true HP:0005354 true HP:0005355 Concentration of the complement component factor I in the blood circulation below the lower limit of normal. UMLS:C1970257 Decreased serum complement factor I human_phenotype HP:0005356 Decreased circulating complement factor I concentration HP:0005356 Concentration of the complement component factor I in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. UMLS:C1859624 human_phenotype HP:0005357 Defective B cell differentiation HP:0005357 Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. GO:0030183 true HP:0005358 Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. SNOMEDCT_US:702623002 SNOMEDCT_US:91918005 UMLS:C0685894 Absent thymus Athymia human_phenotype Absent thymic shadow Lack of thymic shadow HP:0005359 Aplasia of the thymus HP:0005359 Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. https://orcid.org/0000-0002-0736-9199 Absent thymus https://orcid.org/0000-0001-5208-3432 Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. UMLS:C1855205 human_phenotype HP:0005360 Susceptibility to chickenpox HP:0005360 true HP:0005361 true HP:0005362 A general term referring to a defect in immunity resulting from impaired antibody production. UMLS:C4025206 human_phenotype HP:0005363 If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency. Humoral immunodeficiency HP:0005363 HP:0004429 human_phenotype HP:0005364 obsolete Severe viral infections true HP:0005364 HP:0010976 human_phenotype HP:0005365 obsolete Severe B lymphocytopenia true HP:0005365 Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. UMLS:C2169794 human_phenotype HP:0005366 Recurrent streptococcus pneumoniae infections HP:0005366 Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. https://orcid.org/0000-0002-0736-9199 true HP:0005367 An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. UMLS:C3150510 Defective humoral immunity human_phenotype HP:0005368 Abnormality of humoral immunity HP:0005368 An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. https://orcid.org/0000-0002-0736-9199 Concentration of the complement component factor H in the blood circulation below the lower limit of normal. UMLS:C1969222 Decreased serum complement factor H human_phenotype HP:0005369 Decreased circulating complement factor H concentration HP:0005369 Concentration of the complement component factor H in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview true HP:0005370 true HP:0005371 An abnormality of the physiological functioning of B cells. HP:0005398 UMLS:C1849242 Abnormality of B cell physiology Reduced B cell function human_phenotype HP:0005372 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. Abnormal B cell physiology HP:0005372 An abnormality of the physiological functioning of B cells. https://orcid.org/0000-0002-0736-9199 Abnormality of B cell physiology Reduced B cell function true HP:0005373 An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. HP:0005375 UMLS:C1855204 human_phenotype HP:0005374 Cellular immunodeficiency HP:0005374 An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. http://www.dictionary.com/browse/cellular-immunodeficiency HP:0005374 human_phenotype HP:0005375 obsolete Partial cellular immunodeficiency true HP:0005375 Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of Haemophilus influenzae infection. UMLS:C4025204 Chronic Haemophilus influenzae infection Persistent Haemophilus influenzae infection Recurrent H. influenzae infections Recurrent Haemophilus influenzae infection Recurrent Haemophilus influenzae infections human_phenotype HP:0005376 Recurrent Haemophilus influenzae infection HP:0005376 true HP:0005377 true HP:0005378 HP:0005403 human_phenotype HP:0005379 obsolete Severe T lymphocytopenia true HP:0005379 true HP:0005380 Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. HP:0005414 UMLS:C1970263 Chronic menigococcal infection Increased susceptibility to neisseria meningitidis infections Persistent Neisseria meningitidis infection Recurrent meningococcal disease Recurrent meningococcal infection human_phenotype HP:0005381 Recurrent Neisseria meningitidis infection HP:0005381 Increased susceptibility to neisseria meningitidis infections true HP:0005382 true HP:0005383 A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of UMLS:C1846551 human_phenotype HP:0005384 Defective B cell activation HP:0005384 A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of ISBN:0781735149 http://www.wikidata.org/entity/Q1951035 true HP:0005385 Increased susceptibility to protozoan infections as manifested by recurrent episodes of protozoan infection. UMLS:C4025202 human_phenotype HP:0005386 Recurrent protozoan infections HP:0005386 Increased susceptibility to protozoan infections as manifested by recurrent episodes of protozoan infection. https://orcid.org/0000-0002-0736-9199 A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. UMLS:C0494261 human_phenotype HP:0005387 Combined immunodeficiency HP:0005387 A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. PMID:23321211 true HP:0005388 An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. UMLS:C1969220 human_phenotype HP:0005389 Depletion of components of the alternative complement pathway HP:0005389 An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. https://en.wikipedia.org/wiki/Alternative_complement_pathway Increased susceptibility to opportunistic infections as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. HP:0005426 UMLS:C1832324 Frequent opportunistic infections human_phenotype HP:0005390 Recurrent opportunistic infections HP:0005390 Increased susceptibility to opportunistic infections as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. https://orcid.org/0000-0002-0736-9199 true HP:0005391 true HP:0005392 true HP:0005393 true HP:0005394 true HP:0005395 Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e. UMLS:C1852539 human_phenotype HP:0005396 Susceptibility to coronavirus 229e HP:0005396 HP:0011840 human_phenotype HP:0005397 obsolete Exaggerated cellular immune processes true HP:0005397 true HP:0005398 true HP:0005399 An abnormal reduction of the cell motility of neutrophils. UMLS:C4025201 human_phenotype HP:0005400 Reduction of neutrophil motility HP:0005400 An abnormal reduction of the cell motility of neutrophils. https://orcid.org/0000-0002-0736-9199 Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. UMLS:C1860128 Chronic candidiasis Frequent candida infections Persistent Candida infection Recurrent candida infections Recurrent candidiasis human_phenotype HP:0005401 Recurrent Candida infection HP:0005401 HP:0011840 human_phenotype HP:0005402 obsolete Primary T-lymphocyte immune abnormalities true HP:0005402 Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. HP:0005412 HP:0045071 HP:0045072 HP:0045080 UMLS:C2931322 Decrease in T cell count Decreased absolute count of circulating T cells Low T cell count T cell lymphopenia T lymphocytopenia human_phenotype Decreased CD3+ T cell proportion HP:0005403 Decreased total T cell count HP:0005403 Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. https://orcid.org/0000-0002-0736-9199 Decrease in T cell count https://orcid.org/0000-0002-5316-1399 Low T cell count The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group. UMLS:C1858972 B cell lymphocytosis Increase in B cell count Increase in B cell number Increased number of B cells human_phenotype HP:0005404 Increased total B cell count HP:0005404 The absolute number of B cells in the blood, per microlitre is above the upper limit of normal of the reference range for the appropriate sex and age-group. PMID:32569607 https://orcid.org/0000-0002-0736-9199 true HP:0005405 Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. HP:0000983 UMLS:C1835686 Recurrent bacterial skin infections Recurrent cutaneous pyogenic infections Recurrent episodes of impetigo Recurrent episodes of infectious dermatitis Recurrent pyogenic skin infections human_phenotype HP:0005406 Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. Recurrent bacterial skin infections HP:0005406 Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. https://orcid.org/0000-0002-0736-9199 Recurrent bacterial skin infections HP:0032218 human_phenotype HP:0005407 obsolete Decreased proportion of CD4-positive helper T cells true HP:0005407 true HP:0005408 HP:0011840 human_phenotype HP:0005409 obsolete Markedly reduced T cell function true HP:0005409 true HP:0005410 Persistent overgrowth of Candida albicans in the gastrointestinal tract. UMLS:C4020823 UMLS:C4025199 human_phenotype Candida overgrowth syndrome HP:0005411 Chronic intestinal candidiasis HP:0005411 Persistent overgrowth of Candida albicans in the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 true HP:0005412 The concentration of alpha-globulin in the blood circulation is above the upper limit of normal. SNOMEDCT_US:124022007 UMLS:C1167806 human_phenotype HP:0005413 Elevated circulating alpha-globulin concentration HP:0005413 true HP:0005414 Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. HP:0005481 UMLS:C1839305 Decreased proportion of CD8+ T cells Decreased proportion of CD8-positive T cells Decreased proportion of CD8-positive, alpha-beta T cells human_phenotype HP:0005415 Decreased total CD8+ T cell proportion HP:0005415 Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. https://orcid.org/0000-0002-0736-9199 Concentration of the complement component factor B in the blood circulation below the lower limit of normal. UMLS:C4021636 Decreased serum complement factor B Decreased serum factor b human_phenotype HP:0005416 Decreased circulating complement factor B concentration HP:0005416 Concentration of the complement component factor B in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview true HP:0005417 true HP:0005418 Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. HP:0005370 HP:0005436 UMLS:C1846550 Decreased T lymphocyte activation Decreased T-cell activation Decreased T-lymphocyte activation Defective T cell activation Profound depletion of T4+ lymphocytes human_phenotype HP:0005419 Decreased T cell activation HP:0005419 Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. ISBN:0781735149 Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. HP:0005395 UMLS:C4025198 human_phenotype HP:0005420 Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. Recurrent gram-negative bacterial infections HP:0005420 Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. https://orcid.org/0000-0002-0736-9199 Concentration of the complement component C3 in the blood circulation below the lower limit of normal. HP:0005408 UMLS:C1837512 Decreased serum C3 Decreased serum complement C3 Decreased serum complement C3 level human_phenotype HP:0005421 Decreased circulating complement C3 concentration HP:0005421 Concentration of the complement component C3 in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview Lack of detectible CD8-positive T cells UMLS:C4025197 Absence of CD8-positive T cells human_phenotype HP:0005422 Absence of CD8+ T cells HP:0005422 An abnormality of the functioning of any aspect of the alternative complement pathway. UMLS:C1839458 human_phenotype HP:0005423 Dysfunctional alternative complement pathway HP:0005423 Inability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells. UMLS:C1863246 human_phenotype HP:0005424 Absent specific antibody response HP:0005424 Inability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells. PMID:17100769 An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. UMLS:C1846546 Chronic sinopulmonary infection Recurrent sinus and lung infections human_phenotype HP:0005425 Recurrent sinopulmonary infections HP:0005425 An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. https://orcid.org/0000-0002-0736-9199 Recurrent sinus and lung infections https://orcid.org/0000-0002-6548-5200 true HP:0005426 true HP:0005427 UMLS:C1833487 human_phenotype HP:0005428 Severe recurrent varicella HP:0005428 Increased susceptibility to systemic pyogenic infections as manifested by recurrent episodes of systemic pyogenic infections. UMLS:C4025196 human_phenotype HP:0005429 Recurrent systemic pyogenic infections HP:0005429 Increased susceptibility to systemic pyogenic infections as manifested by recurrent episodes of systemic pyogenic infections. https://orcid.org/0000-0001-7941-2961 Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). HP:0005377 HP:0005378 UMLS:C3151083 Episodes of neisserial infection Recurrent neisseria infections human_phenotype HP:0005430 Recurrent Neisserial infections HP:0005430 Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). https://orcid.org/0000-0002-0736-9199 true HP:0005431 At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient hypogammaglobulinemia of infancy. SNOMEDCT_US:88714009 UMLS:C0272238 UMLS:C4020822 human_phenotype Newborn gammaglobulin deficiency HP:0005432 Transient hypogammaglobulinemia of infancy HP:0005432 At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient hypogammaglobulinemia of infancy. https://orcid.org/0000-0002-0736-9199 true HP:0005433 true HP:0005434 HP:0011840 human_phenotype HP:0005435 obsolete Impaired T cell function true HP:0005435 true HP:0005436 Recurrent infections at an early age with improvement in later childhood. UMLS:C1844909 human_phenotype HP:0005437 Recurrent infections in infancy and early childhood HP:0005437 Recurrent infections at an early age with improvement in later childhood. https://orcid.org/0000-0002-0736-9199 true HP:0005438 Hypoplasia of the maxillozygomatic complex. UMLS:C1848908 UMLS:C4280488 Decreased size of zygomaticomaxillary bone complex Deficiency of zygomaticomaxillary bone complex Hypoplasia of malar bone complex Hypoplasia of zygomaticomaxillary complex Underdevelopment of zygomaticomaxillary bone complex human_phenotype Decreased projection of zygomaticomaxillary bone complex HP:0005439 Maxillozygomatic hypoplasia HP:0005439 Hypoplasia of the maxillozygomatic complex. https://orcid.org/0000-0002-0736-9199 Decreased size of zygomaticomaxillary bone complex https://orcid.org/0000-0001-5889-4463 Deficiency of zygomaticomaxillary bone complex https://orcid.org/0000-0001-5889-4463 Hypoplasia of malar bone complex https://orcid.org/0000-0001-5889-4463 Hypoplasia of zygomaticomaxillary complex https://orcid.org/0000-0001-5889-4463 Underdevelopment of zygomaticomaxillary bone complex https://orcid.org/0000-0001-5889-4463 Decreased projection of zygomaticomaxillary bone complex https://orcid.org/0000-0001-5889-4463 true HP:0005440 An increased density in the cranial sutures following obliteration. UMLS:C4025195 human_phenotype HP:0005441 Sclerotic cranial sutures HP:0005441 An increased density in the cranial sutures following obliteration. https://orcid.org/0000-0002-0736-9199 The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. UMLS:C1856778 human_phenotype HP:0005442 Widely patent coronal suture HP:0005442 The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. https://orcid.org/0000-0002-0736-9199 true HP:0005443 true HP:0005444 Abnormal increased size of the posterior cranial fossa. UMLS:C1855889 Widened posterior fossa human_phenotype HP:0005445 Enlarged posterior fossa HP:0005445 Abnormal increased size of the posterior cranial fossa. PMID:28295149 Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. SNOMEDCT_US:709997007 UMLS:C4038738 High mandibular plane angle Steep mandibular plane angle human_phenotype HP:0005446 See PMID:17213440 Figure 1G for an example of an obtuse mandibular angle. Obtuse angle of mandible HP:0005446 Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. https://orcid.org/0000-0002-0736-9199 High mandibular plane angle https://orcid.org/0000-0001-5889-4463 Steep mandibular plane angle https://orcid.org/0000-0001-5889-4463 true HP:0005447 true HP:0005448 UMLS:C1866959 human_phenotype HP:0005449 Bridged sella turcica HP:0005449 An increase in bone density affecting the calvaria (roof of the skull). UMLS:C1855657 human_phenotype HP:0005450 Calvarial osteosclerosis HP:0005450 An increase in bone density affecting the calvaria (roof of the skull). https://orcid.org/0000-0002-0736-9199 UMLS:C1835442 human_phenotype HP:0005451 Decreased cranial base ossification HP:0005451 true HP:0005452 Aplasia or hypoplasia of the paranasal sinuses. UMLS:C1856639 human_phenotype HP:0005453 Absent/hypoplastic paranasal sinuses HP:0005453 Aplasia or hypoplasia of the paranasal sinuses. https://orcid.org/0000-0002-0736-9199 true HP:0005454 true HP:0005455 Lack (aplasia) of the ethmoidal sinus. UMLS:C4025194 Agenesis of ethmoid sinuses Failure of development of ethmoid sinuses Missing ethmoid sinuses human_phenotype HP:0005456 Absent ethmoidal sinuses HP:0005456 Lack (aplasia) of the ethmoidal sinus. https://orcid.org/0000-0002-0736-9199 Agenesis of ethmoid sinuses https://orcid.org/0000-0001-5889-4463 Failure of development of ethmoid sinuses https://orcid.org/0000-0001-5889-4463 Missing ethmoid sinuses https://orcid.org/0000-0001-5889-4463 true HP:0005457 Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. Early closure of the cranial sutures Premature closure of the cranial sutures SNOMEDCT_US:1667003 SNOMEDCT_US:57219006 UMLS:C0010278 UMLS:C0277827 UMLS:C4072853 Early closure of the fontanelles Obliterated fontanelles Premature fontanel closure Early closure of the bregma sutures Premature closure of the bregma sutures human_phenotype HP:0005458 Premature closure of fontanelles HP:0005458 Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-2972-5481 Early closure of the cranial sutures https://orcid.org/0000-0001-5889-4463 Premature closure of the cranial sutures https://orcid.org/0000-0001-5889-4463 Early closure of the fontanelles https://orcid.org/0000-0001-5889-4463 Early closure of the bregma sutures https://orcid.org/0000-0001-5889-4463 Premature closure of the bregma sutures https://orcid.org/0000-0001-5889-4463 true HP:0005459 true HP:0005460 UMLS:C1867114 human_phenotype HP:0005461 Craniofacial disproportion HP:0005461 The presence of calcium deposition in the falx cerebri. UMLS:C1397139 human_phenotype HP:0005462 Calcification of falx cerebri HP:0005462 The presence of calcium deposition in the falx cerebri. https://orcid.org/0000-0002-0736-9199 UMLS:C1863311 human_phenotype HP:0005463 Elongated sella turcica HP:0005463 Abnormally increased density of craniofacial bone tissue. UMLS:C1845805 UMLS:C4025193 human_phenotype Cranial sclerosis HP:0005464 Craniofacial osteosclerosis HP:0005464 Abnormally increased density of craniofacial bone tissue. https://orcid.org/0000-0002-0736-9199 Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. HP:0008508 Enlargement of facial bones Enlargement of facial skeleton Hypertrophy of facial bones Hypertrophy of facial skeleton UMLS:C1857501 UMLS:C4280485 UMLS:C4280486 UMLS:C4280487 Enlargement of the facial bones Excessive growth of facial bones Excessive growth of facial skeleton Hyperostosis of facial bones Hyperostosis of facial skeleton Hypertrophy of the facial bones Increase in size of the facial bones Overgrowth of facial bones Overgrowth of facial skeleton Overgrowth of the facial bones human_phenotype Increased ossification of facial bones Increased ossification of facial skeleton HP:0005465 Facial hyperostosis HP:0005465 Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. https://orcid.org/0000-0002-0736-9199 Enlargement of facial bones https://orcid.org/0000-0001-5889-4463 Enlargement of facial skeleton https://orcid.org/0000-0001-5889-4463 Hypertrophy of facial bones https://orcid.org/0000-0001-5889-4463 Hypertrophy of facial skeleton https://orcid.org/0000-0001-5889-4463 Enlargement of the facial bones https://orcid.org/0000-0001-5889-4463 Excessive growth of facial bones https://orcid.org/0000-0001-5889-4463 Excessive growth of facial skeleton https://orcid.org/0000-0001-5889-4463 Hyperostosis of facial bones https://orcid.org/0000-0001-5889-4463 Hyperostosis of facial skeleton https://orcid.org/0000-0001-5889-4463 Hypertrophy of the facial bones https://orcid.org/0000-0001-5889-4463 Increase in size of the facial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of facial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of facial skeleton https://orcid.org/0000-0001-5889-4463 Overgrowth of the facial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of facial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of facial skeleton https://orcid.org/0000-0001-5889-4463 Underdevelopment of the frontal bone. HP:0005493 UMLS:C1845147 UMLS:C4280483 UMLS:C4280484 Decreased size of bone of forehead Hypoplastic frontal bones Small bone of forehead Underdevelopment of bone of forehead human_phenotype Hypotrophic frontal bone Hypotrophic frontal bones Thin bone of forehead HP:0005466 Hypoplasia of the frontal bone HP:0005466 Underdevelopment of the frontal bone. https://orcid.org/0000-0002-0736-9199 Decreased size of bone of forehead https://orcid.org/0000-0001-5889-4463 Small bone of forehead https://orcid.org/0000-0001-5889-4463 Underdevelopment of bone of forehead https://orcid.org/0000-0001-5889-4463 Hypotrophic frontal bone https://orcid.org/0000-0001-5889-4463 Hypotrophic frontal bones https://orcid.org/0000-0001-5889-4463 Thin bone of forehead https://orcid.org/0000-0001-5889-4463 true HP:0005467 true HP:0005468 Reduced convexity of the occiput (posterior part of skull). HP:0000247 HP:0000249 Flat back of skull Flat back of the head Flat back of the skull Flat posterior head UMLS:C1837402 UMLS:C4280482 Flat posterior cranium Posterior flattening of the skull human_phenotype HP:0005469 Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. Flat occiput HP:0005469 Reduced convexity of the occiput (posterior part of skull). PMID:19125436 Flat back of skull https://orcid.org/0000-0002-6548-5200 Flat back of the head https://orcid.org/0000-0001-5889-4463 Flat back of the skull https://orcid.org/0000-0001-5889-4463 Flat posterior head https://orcid.org/0000-0001-5889-4463 Flat posterior cranium https://orcid.org/0000-0001-5889-4463 true HP:0005470 true HP:0005471 UMLS:C4025192 human_phenotype HP:0005472 Orbital craniosynostosis HP:0005472 Bony fusion of malleus, incus, and stapes. UMLS:C1862068 Fused ossicles human_phenotype HP:0005473 Fusion of middle ear ossicles HP:0005473 Bony fusion of malleus, incus, and stapes. https://orcid.org/0000-0002-0736-9199 Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). HP:0002701 HP:0002702 HP:0005454 HP:0005471 UMLS:C1833762 Poorly ossified calvaria Poorly ossified calvarium Soft calvaria Soft skullcap Undermineralized calvarium human_phenotype Skull soft on palpation HP:0005474 A hypomineralised skull castes little or no acoustic shadow on prenatal ultrasound. This makes visualization of the intracranial anatomy clearer than normal. In conditions associated with profound hypomineralisation, the skull shape can be distorted by pressure from the ultrasound transducer later in pregnancy. Decreased calvarial ossification HP:0005474 Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). PMID:31173381 https://orcid.org/0000-0001-8612-1062 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-2972-5481 Soft skullcap https://orcid.org/0000-0001-5889-4463 true HP:0005475 The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. UMLS:C1856779 human_phenotype HP:0005476 Widely patent sagittal suture HP:0005476 The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. https://orcid.org/0000-0002-0736-9199 Progressively increasing bone density of the skull base without significant changes in bony contour. UMLS:C1835470 human_phenotype HP:0005477 Progressive sclerosis of skull base HP:0005477 Progressively increasing bone density of the skull base without significant changes in bony contour. https://orcid.org/0000-0002-0736-9199 UMLS:C1969404 UMLS:C4280265 UMLS:C4280479 UMLS:C4280480 UMLS:C4280481 Large frontal sinus human_phenotype Hyperplasia of frontal sinus Hypertrophy of frontal sinus Increased size of frontal sinus Increased volume of frontal sinus HP:0005478 Prominent frontal sinuses HP:0005478 Large frontal sinus https://orcid.org/0000-0001-5889-4463 Hyperplasia of frontal sinus https://orcid.org/0000-0001-5889-4463 Hypertrophy of frontal sinus https://orcid.org/0000-0001-5889-4463 Increased size of frontal sinus https://orcid.org/0000-0001-5889-4463 Increased volume of frontal sinus https://orcid.org/0000-0001-5889-4463 An abnormally decreased level of immunoglobulin E (IgE) in blood. 2008-03-26T08:03:00Z HP:0002854 UMLS:C0860904 Decreased IgE Decreased circulating IgE IgE deficiency human_phenotype HP:0005479 Decreased circulating IgE concentration HP:0005479 An abnormally decreased level of immunoglobulin E (IgE) in blood. https://orcid.org/0000-0002-0736-9199 true HP:0005480 true HP:0005481 A deviation in any aspect of the alternative complement pathway. 2008-03-26T08:12:00Z UMLS:C4025191 human_phenotype HP:0005482 The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. Abnormality of the alternative complement pathway HP:0005482 The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin. PMID:16424154 An abnormality of the epiglottis. 2008-03-26T08:25:00Z UMLS:C4025190 Abnormality of the epiglottis human_phenotype HP:0005483 Abnormal epiglottis morphology HP:0005483 An abnormality of the epiglottis. https://orcid.org/0000-0002-0736-9199 Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. HP:0000241 HP:0000259 HP:0005499 Development of small head that was not present at birth UMLS:C1847514 Acquired microcephaly Deceleration of head growth Microcephaly, acquired Microcephaly, postnatal Postnatal deceleration of head circumference Postnatal microcephaly human_phenotype HP:0005484 Secondary microcephaly HP:0005484 Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. https://orcid.org/0000-0002-0736-9199 Development of small head that was not present at birth https://orcid.org/0000-0001-5889-4463 Acquired microcephaly https://orcid.org/0000-0001-5889-4463 true HP:0005485 A fontanelle that is small for age. Little cranial sutures Small cranial sutures SNOMEDCT_US:276710001 UMLS:C0456133 UMLS:C4072854 UMLS:C4072855 Little fontanelle Microfontanelle Small soft spot Small bregma sutures human_phenotype HP:0005486 Small fontanelle HP:0005486 A fontanelle that is small for age. PMID:12825844 https://orcid.org/0000-0002-0736-9199 Little cranial sutures https://orcid.org/0000-0001-5889-4463 Small cranial sutures https://orcid.org/0000-0001-5889-4463 Little fontanelle https://orcid.org/0000-0001-5889-4463 Microfontanelle https://orcid.org/0000-0001-5889-4463 Small soft spot https://orcid.org/0000-0001-5889-4463 Small bregma sutures https://orcid.org/0000-0001-5889-4463 Vertical bony ridge positioned in the midline of the forehead. HP:0005488 HP:0005751 UMLS:C1857949 Prominent frontal ridge Prominent metopic suture Ridging of metopic suture Prominent frontal suture Ridging of frontal suture human_phenotype HP:0005487 The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. Prominent metopic ridge HP:0005487 Vertical bony ridge positioned in the midline of the forehead. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Prominent frontal ridge https://orcid.org/0000-0001-5889-4463 Prominent metopic suture https://orcid.org/0000-0001-5889-4463 Prominent frontal suture https://orcid.org/0000-0001-5889-4463 Ridging of frontal suture https://orcid.org/0000-0001-5889-4463 true HP:0005488 true HP:0005489 The postnatal development of an abnormally large skull (macrocephaly). UMLS:C1854417 Macrocephaly, postnatal human_phenotype HP:0005490 Postnatal macrocephaly HP:0005490 The postnatal development of an abnormally large skull (macrocephaly). https://orcid.org/0000-0002-0736-9199 true HP:0005491 true HP:0005492 true HP:0005493 UMLS:C1839126 human_phenotype HP:0005494 Premature posterior fontanelle closure HP:0005494 The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. UMLS:C4025189 human_phenotype HP:0005495 This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. Metopic suture patent to nasal root HP:0005495 The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. PMID:11711818 https://orcid.org/0000-0002-0736-9199 true HP:0005496 true HP:0005497 UMLS:C1855690 human_phenotype HP:0005498 Midline skin dimples over anterior/posterior fontanelles HP:0005498 true HP:0005499 true HP:0005500 true HP:0005501 UMLS:C1849478 Increased erythrocyte osmotic fragility Increased red cell fragility human_phenotype HP:0005502 Increased red cell osmotic fragility HP:0005502 true HP:0005503 true HP:0005504 SNOMEDCT_US:128845005 UMLS:C0002893 Refractory anaemia human_phenotype HP:0005505 Refractory anemia HP:0005505 Refractory anaemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. HP:0005544 DOID:8552 SNOMEDCT_US:63364005 SNOMEDCT_US:92818009 UMLS:C0023473 Chronic myelocytic leukaemia Chronic myelocytic leukemia Chronic myelogenous leukaemia Chronic myeloid leukaemia Chronic myeloid leukemia human_phenotype HP:0005506 Chronic myelogenous leukemia HP:0005506 A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. https://orcid.org/0000-0002-0736-9199 DOID:8552 chronic myeloid leukemia Chronic myelocytic leukaemia Chronic myelogenous leukaemia Chronic myeloid leukaemia Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. UMLS:C3539063 Haemoglobin Barts Hb Barts human_phenotype HP:0005507 Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. Hemoglobin Barts HP:0005507 Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. https://orcid.org/0000-0002-0736-9199 Haemoglobin Barts Hb Barts Presence of a monoclonal immunoglobulin M protein in the serum. SNOMEDCT_US:190817009 SNOMEDCT_US:190818004 SNOMEDCT_US:35562000 UMLS:C0024419 human_phenotype Waldenstrom macroglobulinemia HP:0005508 This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. Monoclonal elevation of circulating IgM concentration HP:0005508 Presence of a monoclonal immunoglobulin M protein in the serum. PMID:25815903 https://orcid.org/0000-0002-0736-9199 true HP:0005509 A transient reduction in the number of erythroblasts in the circulation. UMLS:C4082199 Transient decrease in blood erythrocyte number human_phenotype HP:0005510 An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. Transient erythroblastopenia HP:0005510 A transient reduction in the number of erythroblasts in the circulation. https://orcid.org/0000-0002-0736-9199 Transient decrease in blood erythrocyte number https://orcid.org/0000-0001-5208-3432 Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. UMLS:C0700299 Heinz body anaemia human_phenotype HP:0005511 Heinz body anemia HP:0005511 Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. https://orcid.org/0000-0002-0736-9199 Heinz body anaemia HP:0003203 human_phenotype HP:0005512 obsolete Impaired neutrophil killing of staphylococci true HP:0005512 Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. UMLS:C4025187 human_phenotype HP:0005513 Increased megakaryocyte count HP:0005513 Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. https://orcid.org/0000-0002-0736-9199 true HP:0005514 true HP:0005515 true HP:0005516 A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. UMLS:C4025186 human_phenotype HP:0005517 T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). T-cell lymphoma/leukemia HP:0005517 A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas. https://orcid.org/0000-0002-0736-9199 Larger than normal size of erythrocytes. HP:0005536 UMLS:C0855791 Erythrocyte macrocytosis Increased MCV human_phenotype HP:0005518 Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. Increased mean corpuscular volume HP:0005518 Larger than normal size of erythrocytes. https://orcid.org/0000-0002-0736-9199 Increased MCV true HP:0005519 A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. UMLS:C1862184 Chronic consumption coagulopathy Compensated disseminated intravascular coagulation human_phenotype HP:0005520 Chronic disseminated intravascular coagulation HP:0005520 A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced. https://orcid.org/0000-0002-0736-9199 Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. SNOMEDCT_US:67406007 UMLS:C0012739 human_phenotype HP:0005521 DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. Disseminated intravascular coagulation HP:0005521 Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. PMID:10451465 PMID:11816725 https://orcid.org/0000-0002-0736-9199 A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. SNOMEDCT_US:191260004 SNOMEDCT_US:25443007 UMLS:C0272027 Pyridoxine-responsive sideroblastic anaemia human_phenotype HP:0005522 Pyridoxine-responsive sideroblastic anemia HP:0005522 A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. https://orcid.org/0000-0002-0736-9199 Pyridoxine-responsive sideroblastic anaemia SNOMEDCT_US:277466009 SNOMEDCT_US:414629003 SNOMEDCT_US:77121009 SNOMEDCT_US:84631004 UMLS:C0024314 human_phenotype Lymphoproliferative disorders HP:0005523 Lymphoproliferative disorder HP:0005523 Lymphoproliferative disorders https://orcid.org/0000-0002-5316-1399 UMLS:C4025185 human_phenotype HP:0005524 Macrocytic hemolytic disease HP:0005524 UMLS:C4025184 human_phenotype HP:0005525 Spontaneous hemolytic crises HP:0005525 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. SNOMEDCT_US:188725004 SNOMEDCT_US:32280000 UMLS:C0023448 Lymphoid leukaemia human_phenotype HP:0005526 Lymphoid leukemia HP:0005526 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. NCIT:C7539 Lymphoid leukaemia Amount or activity of kininogen is below the lower limit of normal. Kininogen functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. HP:0004867 HP:0005500 HP:0005530 HP:0005538 SNOMEDCT_US:27312002 UMLS:C0272340 Fitzgerald factor deficiency Kininogen deficiency Williams factor deficiency Williams-Fitzgerald-Flaujeac factor deficiency human_phenotype HP:0005527 Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. Reduced kininogen activity HP:0005527 Amount or activity of kininogen is below the lower limit of normal. Kininogen functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-7744-1790 A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. HP:0005529 HP:0100549 UMLS:C1855710 Bone marrow failure Bone marrow hypoplasia Hypoplastic bone marrow Myeloid hypoplasia human_phenotype HP:0005528 Bone marrow hypocellularity HP:0005528 A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-7744-1790 Bone marrow failure true HP:0005529 true HP:0005530 A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. SNOMEDCT_US:128818009 SNOMEDCT_US:278453007 UMLS:C0023464 Acute biphenotypic leukaemia Biphenotypic acute leukaemia Myeloid/lymphoid leukaemia Myeloid/lymphoid leukemia human_phenotype HP:0005531 Biphenotypic acute leukemia HP:0005531 A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias. PMID:9107085 https://orcid.org/0000-0002-0736-9199 Acute biphenotypic leukaemia Biphenotypic acute leukaemia Myeloid/lymphoid leukaemia UMLS:C4025183 Macrocytic dyserythropoietic anaemia human_phenotype HP:0005532 Macrocytic dyserythropoietic anemia HP:0005532 Macrocytic dyserythropoietic anaemia true HP:0005533 A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. SNOMEDCT_US:450934005 UMLS:C1834582 TMD Transient leukaemia of Down syndrome Transient leukemia of Down syndrome Transient myeloproliferative disorder human_phenotype HP:0005534 Transient myeloproliferative syndrome HP:0005534 A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts. PMID:22966823 TMD Transient leukaemia of Down syndrome A form of hemolytic anemia that can be triggered by exertion. UMLS:C4025182 human_phenotype HP:0005535 Exercise-induced hemolysis HP:0005535 A form of hemolytic anemia that can be triggered by exertion. https://orcid.org/0000-0002-0736-9199 true HP:0005536 Average platelet volume below the lower limit of the normal reference interval. HP:0001938 UMLS:C1096368 UMLS:C1833182 Small platelet size Small platelets Small platelets size human_phenotype HP:0005537 Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). Decreased mean platelet volume HP:0005537 Average platelet volume below the lower limit of the normal reference interval. https://orcid.org/0000-0002-7744-1790 Small platelet size Small platelets Small platelets size true HP:0005538 A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. UMLS:C4025181 human_phenotype HP:0005539 T cell chronic lymphocytic lymphoma/leukemia HP:0005539 A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent. ISBN:9780721600406 HP:0004447 human_phenotype HP:0005540 obsolete Red blood cell keratocytosis true HP:0005540 Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence. SNOMEDCT_US:89655007 UMLS:C1853118 human_phenotype HP:0005541 Congenital agranulocytosis HP:0005541 Persistent absence of detectable circulating granulocytes in the blood with no detected secondary cause. Usually a value of less than 50 granulocytes per microliter is considered to be an absence. https://orcid.org/0000-0002-0736-9199 An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. HP:0003229 UMLS:C0151563 Prolonged clotting time human_phenotype HP:0005542 Prolonged whole-blood clotting time HP:0005542 An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. https://orcid.org/0000-0002-0736-9199 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. SNOMEDCT_US:76407009 UMLS:C0398625 Protein C deficiency human_phenotype HP:0005543 Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. Reduced protein C activity HP:0005543 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. https://orcid.org/0000-0002-0736-9199 true HP:0005544 true HP:0005545 UMLS:C1858628 human_phenotype HP:0005546 Increased red cell osmotic resistance HP:0005546 Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. SNOMEDCT_US:414794006 SNOMEDCT_US:425333006 UMLS:C0027022 human_phenotype HP:0005547 There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. Myeloproliferative disorder HP:0005547 Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. https://orcid.org/0000-0002-0736-9199 A reduced count of megakaryocytes. UMLS:C1858312 Megakaryocytes decreased im bone marrow human_phenotype HP:0005548 Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. Megakaryocytopenia HP:0005548 A reduced count of megakaryocytes. https://orcid.org/0000-0002-0736-9199 HP:0001875 human_phenotype HP:0005549 This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset. obsolete Congenital neutropenia true HP:0005549 A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. HP:0006734 HP:0006760 SNOMEDCT_US:277473004 SNOMEDCT_US:51092000 SNOMEDCT_US:92814006 UMLS:C0023434 Chronic lymphatic leukaemia Chronic lymphocytic leukaemia Chronic lymphocytic leukemia human_phenotype HP:0005550 Chronic lymphatic leukemia HP:0005550 A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. https://orcid.org/0000-0002-0736-9199 Chronic lymphatic leukaemia Chronic lymphocytic leukaemia true HP:0005551 true HP:0005552 true HP:0005553 true HP:0005554 true HP:0005555 The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture". 2008-03-27T10:04:00Z UMLS:C4025180 human_phenotype HP:0005556 Abnormality of the metopic suture HP:0005556 The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture". https://orcid.org/0000-0002-0736-9199 An abnormality of the zygomatic arch, also known as the cheek bone. 2008-03-27T10:20:00Z UMLS:C4025179 Abnormality of the malar arch Abnormality of the zygomatic arch Anomaly of the malar arch Anomaly of the zygomatic arch Deformity of the malar arch Deformity of the zygomatic arch Malformation of the malar arch Malformation of the zygomatic arch human_phenotype HP:0005557 The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. Abnormal zygomatic arch morphology HP:0005557 An abnormality of the zygomatic arch, also known as the cheek bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the malar arch https://orcid.org/0000-0001-5889-4463 Anomaly of the malar arch https://orcid.org/0000-0001-5889-4463 Anomaly of the zygomatic arch https://orcid.org/0000-0001-5889-4463 Deformity of the malar arch https://orcid.org/0000-0001-5889-4463 Deformity of the zygomatic arch https://orcid.org/0000-0001-5889-4463 Malformation of the malar arch https://orcid.org/0000-0001-5889-4463 Malformation of the zygomatic arch https://orcid.org/0000-0001-5889-4463 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. 2008-03-27T10:32:00Z Chronic blood cancer SNOMEDCT_US:128933000 SNOMEDCT_US:92812005 UMLS:C1279296 UMLS:C4280478 Chronic leukaemia human_phenotype HP:0005558 Chronic leukemia HP:0005558 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. NCIT:C3483 Chronic blood cancer https://orcid.org/0000-0001-5208-3432 Chronic leukaemia The activity or concentration of a component of the kinin-kallikrein system is outside the limits of normal. 2008-03-27T10:34:00Z UMLS:C4025178 human_phenotype HP:0005559 The kinin-kallikrein system (KKS) is a peptide cascade involved in several physiological processes such as inflammation, coagulation, pain, blood pressure control, and vascular permeability. In the KKS, kinins originate from kininogens through the action of tissue and plasma kallikreins. Some impacts of kinins are induced via activation of B1 and/or B2 receptors and downstream signaling such as nitric oxide. Abnormal kinin-kallikrein system component activity HP:0005559 The activity or concentration of a component of the kinin-kallikrein system is outside the limits of normal. PMID:38381277 Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. 2008-03-27T10:44:00Z UMLS:C4025177 Imbalanced Hb synthesis Imbalanced haemoglobin synthesis human_phenotype HP:0005560 While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. Imbalanced hemoglobin synthesis HP:0005560 Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia. https://orcid.org/0000-0002-0736-9199 Imbalanced Hb synthesis Imbalanced haemoglobin synthesis An anomaly of the form or number of cells in the bone marrow. 2008-03-27T10:46:00Z SNOMEDCT_US:127035006 UMLS:C0005956 UMLS:C4021634 Abnormality of bone marrow cell morphology Anomaly of the bone marrow cells human_phenotype Bone marrow disease HP:0005561 Abnormal bone marrow cell morphology HP:0005561 An anomaly of the form or number of cells in the bone marrow. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-7744-1790 Bone marrow disease The presence of many cysts in the kidney. SNOMEDCT_US:253883006 UMLS:C0431718 Multiple kidney cysts human_phenotype HP:0005562 Multiple renal cysts HP:0005562 The presence of many cysts in the kidney. HPO_CONTRIBUTOR:Eurenomics_ewuehl Multiple kidney cysts https://orcid.org/0000-0001-5208-3432 A reduction in the count of nephrons per kidney. UMLS:C1841994 UMLS:C2673888 Oligonephronia human_phenotype Decreased numbers of glomeruli HP:0005563 Decreased numbers of nephrons HP:0005563 A reduction in the count of nephrons per kidney. HPO_CONTRIBUTOR:Eurenomics_ewuehl A lack of differentiation between renal cortex and medulla on diagnostic imaging. HP:0005581 UMLS:C1849765 Absent renal corticomedullary differentiation Loss of corticomedullary differentiation human_phenotype HP:0005564 Absence of renal corticomedullary differentiation HP:0005564 A lack of differentiation between renal cortex and medulla on diagnostic imaging. https://orcid.org/0000-0002-0736-9199 Reduced differentiation between renal cortex and medulla on diagnostic imaging. HP:0005573 UMLS:C3807131 Loss of definition of corticomedullary differentiation human_phenotype HP:0005565 Reduced renal corticomedullary differentiation HP:0005565 Reduced differentiation between renal cortex and medulla on diagnostic imaging. https://orcid.org/0000-0002-0736-9199 true HP:0005566 High urine magnesium in the presence of hypomagnesemia. UMLS:C1835171 human_phenotype HP:0005567 Renal magnesium wasting HP:0005567 High urine magnesium in the presence of hypomagnesemia. HPO_CONTRIBUTOR:Eurenomics_ewuehl true HP:0005568 true HP:0005569 true HP:0005570 UMLS:C1968910 Increased percent tubular reabsorption of phosphorus human_phenotype HP:0005571 Increased renal tubular phosphate reabsorption HP:0005571 UMLS:C1968899 human_phenotype HP:0005572 Decreased renal tubular phosphate excretion HP:0005572 true HP:0005573 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. UMLS:C4025176 human_phenotype HP:0005574 Non-acidotic proximal tubulopathy HP:0005574 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. https://orcid.org/0000-0002-0736-9199 A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. SNOMEDCT_US:111407006 UMLS:C0019061 Hemolytic uremic syndrome human_phenotype HP:0005575 Hemolytic-uremic syndrome HP:0005575 A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. PMID:19846853 PMID:28416508 A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. HP:0000129 HP:0004714 HP:0008171 UMLS:C1969372 Tubulointerstitial renal fibrosis human_phenotype Tubulointerstitial scarring HP:0005576 This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086) Tubulointerstitial fibrosis HP:0005576 A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. PMID:19144691 PMID:22449945 https://orcid.org/0000-0002-0736-9199 true HP:0005577 true HP:0005578 Any impairment of reabsorption of chloride by the kidney. UMLS:C1846349 Impaired reabsorption of Cl Impaired reabsorption of Cl- human_phenotype HP:0005579 Impaired renal tubular reabsorption of chloride HP:0005579 Any impairment of reabsorption of chloride by the kidney. PMID:25820368 Impaired reabsorption of Cl https://orcid.org/0000-0001-7941-2961 Impaired reabsorption of Cl- https://orcid.org/0000-0001-7941-2961 A duplication of the renal pelvis. UMLS:C1839269 human_phenotype HP:0005580 Duplication of renal pelvis HP:0005580 A duplication of the renal pelvis. https://orcid.org/0000-0002-0736-9199 true HP:0005581 true HP:0005582 DIsruption and breaking up of the basement membrane of the tubules of the kidney. HP:0005577 UMLS:C1968618 Disintegration of the tubular basement membrane human_phenotype HP:0005583 Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. Tubular basement membrane disintegration HP:0005583 DIsruption and breaking up of the basement membrane of the tubules of the kidney. https://orcid.org/0000-0002-0736-9199 A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. HP:0006720 NCIT:C2916 SNOMEDCT_US:41607009 SNOMEDCT_US:702391001 UMLS:C0007134 Cancer starting in small tubes in kidneys Hypernephroma Renal carcinoma human_phenotype HP:0005584 Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. Renal cell carcinoma HP:0005584 A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. https://orcid.org/0000-0002-0736-9199 Cancer starting in small tubes in kidneys https://orcid.org/0000-0002-6548-5200 UMLS:C3806179 Patchy hyperpigmentation Spotty increased pigmentation human_phenotype HP:0005585 Spotty hyperpigmentation HP:0005585 Spotty increased pigmentation https://orcid.org/0000-0001-5208-3432 UMLS:C3805877 Hyperpigmentation of exposed areas Increased pigmentation in sun-exposed areas human_phenotype HP:0005586 Hyperpigmentation in sun-exposed areas HP:0005586 Increased pigmentation in sun-exposed areas https://orcid.org/0000-0001-5208-3432 HP:0001000 human_phenotype HP:0005587 obsolete Profuse pigmented skin lesions true HP:0005587 A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. UMLS:C4021633 Palmoplantar keratoderma, patchy Patchy palmoplantar keratoderma human_phenotype HP:0005588 Patchy palmoplantar keratoderma may develop at sites of recurrent friction. Patchy palmoplantar hyperkeratosis HP:0005588 A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. https://orcid.org/0000-0002-0736-9199 true HP:0005589 UMLS:C3806178 Patchy depigmentation Patchy hypopigmentation Spotty decreased pigmentation human_phenotype HP:0005590 Spotty hypopigmentation HP:0005590 Patchy hypopigmentation Spotty decreased pigmentation https://orcid.org/0000-0001-5208-3432 true HP:0005591 The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. HP:0003342 UMLS:C3806221 Macromelanosomes human_phenotype HP:0005592 Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. Giant melanosomes in melanocytes HP:0005592 The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. https://orcid.org/0000-0002-0736-9199 UMLS:C3806616 human_phenotype HP:0005593 Macular hypopigmented whorls, streaks, and patches HP:0005593 true HP:0005594 UMLS:C1969913 Generalised hyperkeratosis Hyperkeratosis, generalised Hyperkeratosis, generalized human_phenotype HP:0005595 Generalized hyperkeratosis HP:0005595 Generalised hyperkeratosis Hyperkeratosis, generalised true HP:0005596 Loss of all scalp hair with congenital onset. UMLS:C4025175 human_phenotype HP:0005597 Congenital alopecia totalis HP:0005597 Loss of all scalp hair with congenital onset. https://orcid.org/0000-0002-0736-9199 Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. UMLS:C4021632 Butterfly facial telangiectasia human_phenotype HP:0005598 Facial telangiectasia in butterfly midface distribution HP:0005598 Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. https://orcid.org/0000-0002-0736-9199 UMLS:C3278401 Hair hypopigmentation Loss of hair color Loss of hair colour human_phenotype HP:0005599 Hypopigmentation of hair HP:0005599 Loss of hair color https://orcid.org/0000-0002-6548-5200 Loss of hair colour The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. HP:0005604 SNOMEDCT_US:10291008 SNOMEDCT_US:254815002 UMLS:C1842036 Giant pigmented hairy nevus Giant pigmented mole Giant pigmented nevus human_phenotype HP:0005600 Between 4% and 6% of these lesions will develop into a malignant melanoma. Congenital giant melanocytic nevus HP:0005600 The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. PMID:21139903 https://orcid.org/0000-0002-0736-9199 Giant pigmented mole https://orcid.org/0000-0001-6908-9849 true HP:0005601 UMLS:C3806428 human_phenotype HP:0005602 Progressive vitiligo HP:0005602 UMLS:C3806415 human_phenotype HP:0005603 Numerous congenital melanocytic nevi HP:0005603 true HP:0005604 Large hypermelanotic macules with jagged borders. UMLS:C4025174 human_phenotype HP:0005605 This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. Large cafe-au-lait macules with irregular margins HP:0005605 Large hypermelanotic macules with jagged borders. https://orcid.org/0000-0002-0736-9199 UMLS:C3805692 human_phenotype HP:0005606 Hyperpigmented nevi and streak HP:0005606 2008-03-28T09:03:00Z HP:0005940 Fyler:4232 UMLS:C4021631 Tracheobronchial anomalies human_phenotype HP:0005607 Abnormal tracheobronchial morphology HP:0005607 The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. UMLS:C1846422 Bilobed gallbladder Double gallbladder Gallbladder duplication Gallbladder septated human_phenotype HP:0005608 During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. Bilobate gallbladder HP:0005608 The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. PMID:14571173 PMID:16553121 PMID:21170223 https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:51047007 UMLS:C0232769 Gallbladder dysfunction human_phenotype HP:0005609 Gallbladder dysfunction HP:0005609 Gallbladder dysfunction true HP:0005610 true HP:0005611 UMLS:C4025173 human_phenotype HP:0005612 Arthrogryposis-like hand anomaly HP:0005612 Absence or underdevelopment of the femur. HP:0006396 HP:0006425 UMLS:C1851310 Absent/small thighbone Absent/underdeveloped thighbone Hypoplastic to absent femora Hypoplastic/aplastic femora human_phenotype HP:0005613 Aplasia/hypoplasia of the femur HP:0005613 Absence or underdevelopment of the femur. https://orcid.org/0000-0002-0736-9199 Absent/small thighbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thighbone https://orcid.org/0000-0001-5208-3432 true HP:0005614 true HP:0005615 An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. HP:0002649 HP:0005854 SNOMEDCT_US:123982003 UMLS:C0545053 Advanced bone age Early bone maturation Premature epiphyseal closure Premature epiphyseal ossification Premature fusion of the epiphyseal growth plate human_phenotype HP:0005616 Accelerated skeletal maturation HP:0005616 An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. https://orcid.org/0000-0002-0736-9199 Advanced bone age Early bone maturation UMLS:C4021830 human_phenotype HP:0005617 Bilateral camptodactyly HP:0005617 true HP:0005618 Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. HP:0003439 UMLS:C1855418 Thoracolumbar gibbus Thoracolumbar gibbus deformity human_phenotype HP:0005619 Thoracolumbar kyphosis HP:0005619 Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. https://orcid.org/0000-0002-0736-9199 The ability of the interphalangeal joints to move beyond their normal range of motion. UMLS:C4025172 Increased mobility of hinge joints human_phenotype HP:0005620 Hypermobility of interphalangeal joints HP:0005620 The ability of the interphalangeal joints to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 Increased mobility of hinge joints https://orcid.org/0000-0001-5208-3432 An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side. UMLS:C4025171 Trapezoidal shaped vertebral bodies Trapezoidal vertebral bodies human_phenotype HP:0005621 See Figure 1d in PMID:33247084. Trapezoidal vertebral body HP:0005621 An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side. PMID:33247084 Trapezoidal shaped vertebral bodies Trapezoidal vertebral bodies Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. UMLS:C4021630 Broad long bones Wide long bones Widened long bones human_phenotype HP:0005622 Broad long bones HP:0005622 Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. https://orcid.org/0000-0002-0736-9199 Broad long bones Wide long bones Widened long bones Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. UMLS:C4021629 Absent bone maturation of skullcap Absent ossification of skull vault Acalvaria human_phenotype HP:0005623 Absent ossification of the calvaria (vault of the skull). Absent ossification of calvaria HP:0005623 Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones. https://orcid.org/0000-0002-0736-9199 Absent bone maturation of skullcap https://orcid.org/0000-0001-5889-4463 true HP:0005624 Osteoporosis affecting predominantly the vertebrae. UMLS:C4025170 human_phenotype HP:0005625 Osteoporosis of vertebrae HP:0005625 Osteoporosis affecting predominantly the vertebrae. https://orcid.org/0000-0002-0736-9199 Bony fusion of the posterior part of the L5 vertebral body with the sacrum. UMLS:C4025169 human_phenotype HP:0005626 Posterior fusion of lumbosacral vertebrae HP:0005626 Bony fusion of the posterior part of the L5 vertebral body with the sacrum. PMID:5443339 This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. UMLS:C0220664 Brachydactyly type D human_phenotype HP:0005627 Type D brachydactyly HP:0005627 This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. https://orcid.org/0000-0002-0736-9199 true HP:0005628 true HP:0005629 true HP:0005630 true HP:0005631 UMLS:C1408532 Absent forearm human_phenotype Absent forearms HP:0005632 Absent forearm HP:0005632 Absent forearm Absent forearms https://orcid.org/0000-0002-5316-1399 true HP:0005633 true HP:0005634 true HP:0005635 true HP:0005636 true HP:0005637 UMLS:C4025168 human_phenotype HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005638 The ability of the joints of the hand to move beyond their normal range of motion. UMLS:C1856877 human_phenotype HP:0005639 Hyperextensible hand joints HP:0005639 The ability of the joints of the hand to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 UMLS:C4025167 human_phenotype HP:0005640 Abnormal vertebral segmentation and fusion HP:0005640 true HP:0005641 true HP:0005642 Underdevelopment (hypoplasia) of the third toe. UMLS:C4021628 Brachydactyly of third toes Short 3rd toe Short third toe human_phenotype HP:0005643 Short 3rd toe HP:0005643 Underdevelopment (hypoplasia) of the third toe. https://orcid.org/0000-0002-0736-9199 Short 3rd toe Short third toe true HP:0005644 The presence of abnormal calcium deposition of the intervertebral disk. SNOMEDCT_US:240211000 UMLS:C0410607 Intervertebral disc calcification Multiple intervertebral disc calcifications Multiple intervertebral disk calcifications human_phenotype HP:0005645 Intervertebral disk calcification HP:0005645 The presence of abnormal calcium deposition of the intervertebral disk. https://orcid.org/0000-0002-0736-9199 Intervertebral disc calcification Multiple intervertebral disc calcifications true HP:0005646 true HP:0005647 Underdevelopment of the ulna on both sides. UMLS:C4025166 human_phenotype HP:0005648 May be a symmetric finding. Bilateral ulnar hypoplasia HP:0005648 Underdevelopment of the ulna on both sides. https://orcid.org/0000-0002-0736-9199 true HP:0005649 A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. HP:0010692 UMLS:C4025165 Cutaneous syndactyly between fingers 2 and 5 Webbed 2nd-5th fingers human_phenotype HP:0005650 2-5 finger cutaneous syndactyly HP:0005650 A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0000-0002-0736-9199 true HP:0005651 Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. UMLS:C4025164 human_phenotype HP:0005652 Cortical sclerosis HP:0005652 Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. https://orcid.org/0000-0002-0736-9199 Moderate osteoporosis. UMLS:C4025163 Moderate generalised osteoporosis human_phenotype HP:0005653 Moderate generalized osteoporosis HP:0005653 Moderate osteoporosis. https://orcid.org/0000-0002-0736-9199 Moderate generalised osteoporosis true HP:0005654 Multiple exostoses originating in the fingers and toes. UMLS:C4025162 human_phenotype HP:0005655 This feature is characteristic of metachondromatosis (MIM:156250). Multiple digital exostoses HP:0005655 Multiple exostoses originating in the fingers and toes. https://orcid.org/0000-0002-0736-9199 A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. UMLS:C4025161 human_phenotype HP:0005656 Positional foot deformity HP:0005656 A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. https://orcid.org/0000-0002-0736-9199 true HP:0005657 true HP:0005658 UMLS:C4015465 human_phenotype HP:0005659 Thoracic kyphoscoliosis HP:0005659 true HP:0005660 Osteomyelitis caused by infection with the bacteria, salmonella. SNOMEDCT_US:6803002 UMLS:C0152491 Salmonella bone infection human_phenotype HP:0005661 Salmonella osteomyelitis HP:0005661 Osteomyelitis caused by infection with the bacteria, salmonella. PMID:26668420 Salmonella bone infection true HP:0005662 true HP:0005663 true HP:0005664 Extreme thickening of the cortex of long bones. UMLS:C4025160 human_phenotype HP:0005665 Massively thickened long bone cortices HP:0005665 Extreme thickening of the cortex of long bones. https://orcid.org/0000-0002-0736-9199 true HP:0005666 Separation of the odontoid process from the body of the axis. SNOMEDCT_US:445242006 UMLS:C2919848 human_phenotype HP:0005667 With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits. Os odontoideum HP:0005667 Separation of the odontoid process from the body of the axis. PMID:21543665 PMID:22224150 https://orcid.org/0000-0002-0736-9199 true HP:0005668 true HP:0005669 true HP:0005670 Deposition of calcium salts on both sides of the cerebrum. UMLS:C4025159 Bilateral intracranial calcifications human_phenotype HP:0005671 Bilateral intracerebral calcifications HP:0005671 Deposition of calcium salts on both sides of the cerebrum. https://orcid.org/0000-0002-0736-9199 true HP:0005672 true HP:0005673 true HP:0005674 true HP:0005675 UMLS:C4025158 human_phenotype HP:0005676 Rudimentary postaxial polydactyly of hands HP:0005676 true HP:0005677 UMLS:C4025157 human_phenotype HP:0005678 Anterior atlanto-occipital dislocation HP:0005678 An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. SNOMEDCT_US:203045001 SNOMEDCT_US:203047009 SNOMEDCT_US:274142002 SNOMEDCT_US:410813000 UMLS:C0013312 human_phenotype HP:0005679 A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. Dupuytren contracture HP:0005679 An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. https://orcid.org/0000-0002-0736-9199 A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. UMLS:C4025156 human_phenotype HP:0005680 Tongue-like lumbar vertebral deformities HP:0005680 A tongue-like protusion from the anterior aspect of lumbar vertebral bodies. PMID:25349664 SNOMEDCT_US:410795001 UMLS:C3714757 Juvenile RA Juvenile idiopathic arthritis Rheumatoid arthritis, juvenile human_phenotype HP:0005681 Juvenile rheumatoid arthritis HP:0005681 Juvenile RA Juvenile idiopathic arthritis https://en.wikipedia.org/wiki/subtalar_joint https://orcid.org/0000-0001-5208-3432 Fusion of foot joint UMLS:C4025155 UMLS:C4255214 Fusion of the subtalar joint human_phenotype HP:0005682 Talocalcaneal synostosis HP:0005682 Fusion of foot joint https://en.wikipedia.org/wiki/subtalar_joint https://orcid.org/0000-0001-5208-3432 Fusion of the subtalar joint https://en.wikipedia.org/wiki/subtalar_joint https://orcid.org/0000-0001-5208-3432 true HP:0005683 An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. SNOMEDCT_US:24269006 UMLS:C0265213 human_phenotype HP:0005684 Distal arthrogryposis HP:0005684 An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. PMID:8923935 https://orcid.org/0000-0002-0736-9199 true HP:0005685 Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C1855845 Patchy increase of bone mineral density Uneven increase in bone density human_phenotype HP:0005686 Patchy osteosclerosis HP:0005686 Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Patchy increase of bone mineral density https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density https://orcid.org/0000-0001-5208-3432 UMLS:C4025154 Deformed head of long bone in upper arm human_phenotype HP:0005687 Deformed humeral heads HP:0005687 Deformed head of long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025153 human_phenotype HP:0005688 Dysplastic distal thumb phalanges with a central hole HP:0005688 UMLS:C4025152 human_phenotype HP:0005689 Dermatoglyphic ridges abnormal HP:0005689 true HP:0005690 true HP:0005691 HP:0001382 human_phenotype HP:0005692 obsolete Joint hyperflexibility true HP:0005692 true HP:0005693 Partial fusion of innermost row of wrist bones UMLS:C3152021 human_phenotype HP:0005694 Partial fusion of proximal row of carpal bones HP:0005694 Partial fusion of innermost row of wrist bones https://orcid.org/0000-0001-5208-3432 true HP:0005695 Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. SNOMEDCT_US:715704001 UMLS:C3887487 human_phenotype HP:0005696 Postaxial polydactyly type A HP:0005696 Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. https://orcid.org/0000-0002-0736-9199 true HP:0005697 true HP:0005698 true HP:0005699 UMLS:C4025151 human_phenotype HP:0005700 Increased bone density with cystic changes HP:0005700 SNOMEDCT_US:268274005 UMLS:C0014084 human_phenotype HP:0005701 Multiple enchondromatosis HP:0005701 true HP:0005702 true HP:0005703 true HP:0005704 true HP:0005705 true HP:0005706 A bilateral form of triphalangeal thumb. UMLS:C4021627 Bilateral digitalized thumb human_phenotype HP:0005707 Bilateral triphalangeal thumbs HP:0005707 A bilateral form of triphalangeal thumb. https://orcid.org/0000-0002-0736-9199 true HP:0005708 SNOMEDCT_US:205145001 UMLS:C0432040 Complete cutaneous syndactyly of second and third toes Cutaneous 2,3 toe syndactyly Cutaneous syndactyly of second and third toes Webbed skin of 2nd-3rd toes human_phenotype HP:0005709 2-3 toe cutaneous syndactyly HP:0005709 Webbed skin of 2nd-3rd toes https://orcid.org/0000-0001-5208-3432 true HP:0005710 true HP:0005711 true HP:0005712 true HP:0005713 true HP:0005714 UMLS:C4025150 Flattened end part of knee bone human_phenotype HP:0005715 Flattened knee epiphyses HP:0005715 Flattened end part of knee bone https://orcid.org/0000-0001-5208-3432 HP:0008898 UMLS:C4021626 Lethal dwarfism identifiable at birth human_phenotype HP:0005716 Lethal skeletal dysplasia HP:0005716 Lethal dwarfism identifiable at birth true HP:0005717 true HP:0005718 true HP:0005719 Abnormal reduction in length of all metacarpal bones. UMLS:C4025149 human_phenotype HP:0005720 Shortening of all metacarpals HP:0005720 Abnormal reduction in length of all metacarpal bones. https://orcid.org/0000-0002-0736-9199 true HP:0005721 The ability of the thumb joints to move beyond their normal range of motion. UMLS:C4025148 Double jointed thumb human_phenotype HP:0005722 Hyperextensible thumb HP:0005722 The ability of the thumb joints to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 Double jointed thumb https://orcid.org/0000-0001-6908-9849 UMLS:C4025147 human_phenotype HP:0005723 Shoe-shaped sella turcica HP:0005723 true HP:0005724 A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. UMLS:C2931238 human_phenotype HP:0005725 Nonopposable triphalangeal thumb HP:0005725 A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand. https://orcid.org/0000-0002-0736-9199 UMLS:C4025146 Short thumbs with bulbous tips human_phenotype HP:0005726 Thumbs hypoplastic with bulbous tips HP:0005726 Short thumbs with bulbous tips https://orcid.org/0000-0001-5208-3432 true HP:0005727 true HP:0005728 true HP:0005729 true HP:0005730 An abnormal irregularity of cortical bone. UMLS:C4025145 human_phenotype HP:0005731 Cortical irregularity HP:0005731 An abnormal irregularity of cortical bone. https://orcid.org/0000-0002-0736-9199 true HP:0005732 An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). HP:0004597 UMLS:C4021625 Spinal stenosis due to short pedicles human_phenotype HP:0005733 The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. Spinal stenosis with reduced interpedicular distance HP:0005733 An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). https://orcid.org/0000-0002-0736-9199 true HP:0005734 true HP:0005735 Underdevelopment (reduced size) of the tibia. HP:0002993 HP:0006436 HP:0006445 UMLS:C1850259 UMLS:C1855277 Hypoplasia of the tibia Hypoplastic tibia Short shinbone Short skankbone Short tibiae Shortening of the shankbone Shortening of the shinbone Shortening of the tibia human_phenotype HP:0005736 Short tibia HP:0005736 Underdevelopment (reduced size) of the tibia. https://orcid.org/0000-0002-0736-9199 Short shinbone https://orcid.org/0000-0001-5208-3432 Short skankbone https://orcid.org/0000-0001-5208-3432 true HP:0005737 true HP:0005738 Partial dislocation of the head of the radius in the posterior direction. UMLS:C3149878 human_phenotype HP:0005739 Posterior subluxation of radial head HP:0005739 Partial dislocation of the head of the radius in the posterior direction. https://orcid.org/0000-0002-0736-9199 true HP:0005740 true HP:0005741 true HP:0005742 Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. HP:0003280 HP:0006448 HP:0010887 ICD-10:M91.1 SNOMEDCT_US:111255008 SNOMEDCT_US:240241003 UMLS:C0023234 Osteochondrosis of the femoral head Osteonecrosis of the femoral head Perthes-like femoral head changes human_phenotype Coxa plana Legg-Calve-Perthes syndrome Legg-Perthes disease Morbus Legg-Calve-Perthes HP:0005743 In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. Avascular necrosis of the capital femoral epiphysis HP:0005743 Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. PMID:29481348 PMID:30020602 https://orcid.org/0000-0002-0736-9199 HP:0040160 human_phenotype HP:0005744 obsolete Generalized osteoporosis with pathologic fractures true HP:0005744 UMLS:C4025144 human_phenotype HP:0005745 Congenital foot contractures HP:0005745 An increase in bone density affecting the basicranium (base of the skull). UMLS:C4021624 Osteosclerosis of the skull base human_phenotype HP:0005746 Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. Osteosclerosis of the base of the skull HP:0005746 An increase in bone density affecting the basicranium (base of the skull). https://orcid.org/0000-0002-0736-9199 UMLS:C4025143 human_phenotype HP:0005747 Easily subluxated first metacarpophalangeal joints HP:0005747 true HP:0005748 true HP:0005749 A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. UMLS:C1859523 Contractures of the joints of the lower limbs Contractures, lower limbs human_phenotype HP:0005750 Lower-limb joint contracture HP:0005750 true HP:0005751 UMLS:C4025142 human_phenotype HP:0005752 Flattened moderately deformed vertebrae HP:0005752 true HP:0005753 true HP:0005754 true HP:0005755 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. UMLS:C4021623 Epiphyseal stippling in neonates Speckled calcifications in bone end parts in neonates human_phenotype HP:0005756 Neonatal epiphyseal stippling HP:0005756 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in bone end parts in neonates https://orcid.org/0000-0001-5208-3432 true HP:0005757 Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. SNOMEDCT_US:86587003 UMLS:C0032209 human_phenotype HP:0005758 Basilar impression HP:0005758 Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. PMID:10084535 https://orcid.org/0000-0002-0736-9199 An abnormally small and flat configuration of the posterior cranial fossa. UMLS:C4025141 Small and flat posterior fossa of skull Small and flat posterior skull bones human_phenotype HP:0005759 Small flat posterior fossa HP:0005759 An abnormally small and flat configuration of the posterior cranial fossa. https://orcid.org/0000-0002-0736-9199 Small and flat posterior fossa of skull https://orcid.org/0000-0001-5889-4463 Small and flat posterior skull bones https://orcid.org/0000-0001-5889-4463 true HP:0005760 true HP:0005761 true HP:0005762 true HP:0005763 SNOMEDCT_US:416956002 SNOMEDCT_US:417373000 UMLS:C0162323 human_phenotype HP:0005764 Polyarticular arthritis HP:0005764 SNOMEDCT_US:95478002 UMLS:C0521556 human_phenotype HP:0005765 Sacral meningocele HP:0005765 UMLS:C3806516 Disproportionate shortening of the shankbone Disproportionate shortening of the shinbone Marked shortening of tibia human_phenotype HP:0005766 Disproportionate shortening of the tibia HP:0005766 Disproportionate shortening of the shankbone https://orcid.org/0000-0001-5208-3432 Disproportionate shortening of the shinbone https://orcid.org/0000-0001-5208-3432 UMLS:C4025140 human_phenotype HP:0005767 1-2 toe complete cutaneous syndactyly HP:0005767 A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. UMLS:C4021622 Soft tissue syndactyly of toes 2, 3, and 4 Webbed 2nd, 3rd and 4th toes Webbed second, third and fourth toes human_phenotype HP:0005768 2-4 toe cutaneous syndactyly HP:0005768 A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. https://orcid.org/0000-0002-0736-9199 Webbed 2nd, 3rd and 4th toes https://orcid.org/0000-0001-5208-3432 Webbed second, third and fourth toes https://orcid.org/0000-0001-5208-3432 Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). Curvature of outermost bone of little finger Curvature of outermost bone of pinkie finger Curvature of outermost bone of pinky finger UMLS:C4025139 UMLS:C4280477 human_phenotype HP:0005769 Fifth finger distal phalanx clinodactyly HP:0005769 Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). https://orcid.org/0000-0002-0736-9199 Curvature of outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Curvature of outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Curvature of outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0005770 true HP:0005771 Absence or underdevelopment of the tibia. UMLS:C1969181 Absent/hypoplastic tibia Absent/small shankbone Absent/small shinbone Absent/underdeveloped shankbone Absent/underdeveloped shinbone Aplastic/hypoplastic tibia human_phenotype HP:0005772 Aplasia/Hypoplasia of the tibia HP:0005772 Absence or underdevelopment of the tibia. https://orcid.org/0000-0002-0736-9199 Absent/small shankbone https://orcid.org/0000-0001-5208-3432 Absent/small shinbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped shankbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped shinbone https://orcid.org/0000-0001-5208-3432 Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. UMLS:C1855299 Hypoplasia of both radius and ulna Short forearm human_phenotype HP:0005773 Short forearm HP:0005773 Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. https://orcid.org/0000-0002-0736-9199 Short forearm true HP:0005774 UMLS:C4025138 human_phenotype HP:0005775 Multiple skeletal anomalies HP:0005775 UMLS:C4025137 human_phenotype HP:0005776 Carpal bone malsegmentation HP:0005776 true HP:0005777 true HP:0005778 true HP:0005779 Absence of the distal interphalangeal flexion creases of the fourth finger. UMLS:C4021621 No fourth finger distal interphalangeal crease human_phenotype HP:0005780 Absent fourth finger distal interphalangeal crease HP:0005780 Absence of the distal interphalangeal flexion creases of the fourth finger. https://orcid.org/0000-0002-0736-9199 UMLS:C1859698 human_phenotype HP:0005781 Contractures of the large joints HP:0005781 true HP:0005782 true HP:0005783 true HP:0005784 true HP:0005785 true HP:0005786 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine. HP:0004588 UMLS:C4025136 human_phenotype HP:0005787 Lumbar platyspondyly HP:0005787 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine. https://orcid.org/0000-0002-0736-9199 HP:0002318 human_phenotype HP:0005788 obsolete Abnormal cervical myelogram true HP:0005788 An abnormal increase of bone mineral density with generalized involvement of the skeleton. HP:0005805 Increased bone density in skeletal bones UMLS:C1843331 UMLS:C4280476 Diffuse, symmetrical osteosclerosis Generalised osteosclerosis Osteosclerosis, diffuse symmetrical human_phenotype HP:0005789 Generalized osteosclerosis HP:0005789 An abnormal increase of bone mineral density with generalized involvement of the skeleton. https://orcid.org/0000-0002-0736-9199 Increased bone density in skeletal bones https://orcid.org/0000-0001-5208-3432 Generalised osteosclerosis UMLS:C4025134 UMLS:C4280474 UMLS:C4280475 Bilateral hypoplasia of condylar process of mandible Bilateral hypoplasia of mandibular condylar head Bilateral hypoplasia of mandibular condylar neck Decreased height of condylar process of mandible Decreased length of condylar process of mandible Short condylar process of mandible Short condylar head of mandible Short condylar neck of mandible human_phenotype HP:0005790 Short mandibular condyles HP:0005790 Bilateral hypoplasia of condylar process of mandible https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Bilateral hypoplasia of mandibular condylar head https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Bilateral hypoplasia of mandibular condylar neck https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Decreased height of condylar process of mandible https://orcid.org/0000-0001-5889-4463 Decreased length of condylar process of mandible https://orcid.org/0000-0001-5889-4463 Short condylar process of mandible https://orcid.org/0000-0001-5889-4463 Short condylar head of mandible https://orcid.org/0000-0001-5889-4463 Short condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Abnormal thickening of the cortex of the diaphyseal region of long bones. UMLS:C4025133 human_phenotype HP:0005791 Cortical thickening of long bone diaphyses HP:0005791 Abnormal thickening of the cortex of the diaphyseal region of long bones. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the humerus. HP:0002989 HP:0003014 HP:0003064 HP:0006419 HP:0006464 HP:0006468 UMLS:C1832117 Humeral hypoplasia Humeral shortening Hypoplastic humerus Short humeri Short humerus Short long bone of upper arm Short upper arms human_phenotype HP:0005792 Short humerus HP:0005792 Underdevelopment of the humerus. https://orcid.org/0000-0002-0736-9199 Short humerus Short long bone of upper arm https://orcid.org/0000-0001-6908-9849 Short upper arms Abnormally short distal phalanx of toe of all toes. UMLS:C4025132 Shortening of all outermost bone of the toes human_phenotype HP:0005793 Shortening of all distal phalanges of the toes HP:0005793 Abnormally short distal phalanx of toe of all toes. https://orcid.org/0000-0002-0736-9199 Shortening of all outermost bone of the toes https://orcid.org/0000-0001-5208-3432 HP:0004950 human_phenotype HP:0005794 obsolete Arterial disease of legs true HP:0005794 true HP:0005795 true HP:0005796 true HP:0005797 A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. UMLS:C1867398 human_phenotype HP:0005798 Posterior radial head dislocation HP:0005798 A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction. https://orcid.org/0000-0002-0736-9199 true HP:0005799 true HP:0005800 true HP:0005801 UMLS:C4025130 human_phenotype HP:0005802 Coalescence of tarsal bones HP:0005802 true HP:0005803 true HP:0005804 true HP:0005805 true HP:0005806 HP:0009881 human_phenotype HP:0005807 obsolete Absent distal finger phalanx true HP:0005807 true HP:0005808 true HP:0005809 true HP:0005810 true HP:0005811 true HP:0005812 true HP:0005813 true HP:0005814 The presence of more than 12 rib pairs. HP:0000901 SNOMEDCT_US:205460009 UMLS:C0345397 Extra ribs human_phenotype HP:0005815 Supernumerary ribs HP:0005815 The presence of more than 12 rib pairs. https://orcid.org/0000-0002-0736-9199 Extra ribs true HP:0005816 Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). UMLS:C4021824 human_phenotype HP:0005817 Postaxial polysyndactyly of foot HP:0005817 Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). https://orcid.org/0000-0002-0736-9199 true HP:0005818 Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. HP:0001208 HP:0006068 HP:0006081 HP:0010240 UMLS:C1846950 Brachymesophalangy Disproportionately short middle phalanges Hypoplasia of the middle phalanges of the hand Hypoplastic middle phalanges Hypoplastic middle phalanx Midphalangeal hypoplasia Short middle bone of finger Short middle phalanges Shortened middle finger bones human_phenotype HP:0005819 Short middle phalanx of finger HP:0005819 Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. https://orcid.org/0000-0002-0736-9199 Short middle bone of finger https://orcid.org/0000-0001-5208-3432 UMLS:C4025129 human_phenotype HP:0005820 Superior rib anomalies HP:0005820 true HP:0005821 true HP:0005822 true HP:0005823 Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). Curvature of 2nd toe UMLS:C4021620 UMLS:C4280473 Clinodactyly of second toes human_phenotype HP:0005824 Clinodactyly of the 2nd toe HP:0005824 Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). https://orcid.org/0000-0002-0736-9199 Curvature of 2nd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4025128 human_phenotype HP:0005825 Mixed sclerosis of humeral metaphyses HP:0005825 true HP:0005826 true HP:0005827 UMLS:C3805920 human_phenotype HP:0005828 Transient pulmonary infiltrates HP:0005828 UMLS:C3149879 human_phenotype HP:0005829 Maldevelopment of radioulnar joint HP:0005829 One or more bent (flexed) toe joints that cannot be straightened actively or passively. HP:0001860 HP:0008128 HP:0008367 HP:0200027 UMLS:C1406835 Contractures involving the toes Contractures of the toes Toe contractures human_phenotype HP:0005830 Flexion contracture of toe HP:0005830 One or more bent (flexed) toe joints that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 UMLS:C1862112 human_phenotype HP:0005831 Type B brachydactyly HP:0005831 A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. HP:0005840 UMLS:C1859444 human_phenotype HP:0005832 Dysharmonic delayed bone age HP:0005832 A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. https://orcid.org/0000-0002-0736-9199 HP:0001386 human_phenotype HP:0005833 obsolete Joint swelling onset late infancy true HP:0005833 HP:0009658 human_phenotype HP:0005834 obsolete Thumbs hypo/aplastic true HP:0005834 true HP:0005835 true HP:0005836 HP:0001373 human_phenotype HP:0005837 obsolete Joint dislocations in young adult true HP:0005837 true HP:0005838 true HP:0005839 true HP:0005840 UMLS:C1859135 human_phenotype HP:0005841 Calcific stippling of infantile cartilaginous skeleton HP:0005841 true HP:0005842 true HP:0005843 An abnormally round shape of the middle phalanx of the finger. UMLS:C4025126 Rounded middle bone of finger human_phenotype HP:0005844 Rounded middle phalanx of finger HP:0005844 An abnormally round shape of the middle phalanx of the finger. https://orcid.org/0000-0002-0736-9199 Rounded middle bone of finger https://orcid.org/0000-0001-5208-3432 true HP:0005845 true HP:0005846 true HP:0005847 HP:0009611 human_phenotype HP:0005848 obsolete Bifid thumb distal phalanx true HP:0005848 Generalized deposition of calcium salts within the cerebrum. UMLS:C4025125 human_phenotype HP:0005849 Diffuse cerebral calcification HP:0005849 Generalized deposition of calcium salts within the cerebrum. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:205083002 SNOMEDCT_US:31668003 UMLS:C0152237 human_phenotype HP:0005850 Congenital talipes calcaneovalgus HP:0005850 true HP:0005851 UMLS:C4025124 human_phenotype HP:0005852 Limited elbow extension and supination HP:0005852 UMLS:C4025123 human_phenotype HP:0005853 Congenital foot contraction deformities HP:0005853 true HP:0005854 The presence of bone fractures in the prenatal period that are diagnosed at birth or before. HP:0002811 HP:0005761 UMLS:C1853171 Congenital bone fractures Multiple fractures present at birth Multiple fractures, present at birth Numerous multiple fractures present at birth Numerous multiple fractures that are present at birth human_phenotype HP:0005855 Multiple prenatal fractures HP:0005855 The presence of bone fractures in the prenatal period that are diagnosed at birth or before. https://orcid.org/0000-0002-0736-9199 Multiple fractures present at birth Multiple fractures, present at birth Numerous multiple fractures present at birth Numerous multiple fractures that are present at birth A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. UMLS:C4021619 Ulnar dislocation of radial heads human_phenotype HP:0005856 Ulnar radial head dislocation HP:0005856 A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:32232003 UMLS:C0266501 human_phenotype HP:0005857 Cervical spina bifida HP:0005857 true HP:0005858 true HP:0005859 true HP:0005860 true HP:0005861 true HP:0005862 In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. HP:0006115 UMLS:C1862102 human_phenotype HP:0005863 Type E brachydactyly HP:0005863 In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. https://orcid.org/0000-0002-0736-9199 A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). SNOMEDCT_US:31511007 SNOMEDCT_US:410818009 UMLS:C0033785 Pseudoarthroses human_phenotype HP:0005864 Pseudoarthrosis HP:0005864 A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint"). https://orcid.org/0000-0002-0736-9199 true HP:0005865 A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. UMLS:C4025122 human_phenotype HP:0005866 Opposable triphalangeal thumb HP:0005866 A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. https://orcid.org/0000-0002-0736-9199 UMLS:C1859768 Fused 4th-5th long bones of hand Fused 4th-5th metacarpals Fused fourth and fifth metacarpals Ring finger and little finger metacarpal synostosis Synostosis of the fourth and fifth metacarpal bones human_phenotype HP:0005867 4-5 metacarpal synostosis HP:0005867 Fused 4th-5th long bones of hand https://orcid.org/0000-0001-5208-3432 An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. UMLS:C4025121 human_phenotype HP:0005868 Metaphyseal enchondromatosis HP:0005868 An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. PMID:20661403 https://orcid.org/0000-0002-0736-9199 true HP:0005869 true HP:0005870 An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. HP:0006377 SNOMEDCT_US:28681006 UMLS:C0265290 human_phenotype HP:0005871 The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. Metaphyseal chondrodysplasia HP:0005871 An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. PMID:335375 https://orcid.org/0000-0002-0736-9199 Disproportionately short middle and distal phalanges compared to the hand/foot. HP:0005777 HP:0006093 UMLS:C1847408 Progressive brachydactyly of middle and distal phalanges Short middle and distal phalanges of digits ii through v human_phenotype HP:0005872 Brachytelomesophalangy HP:0005872 Disproportionately short middle and distal phalanges compared to the hand/foot. https://orcid.org/0000-0002-0736-9199 Combined syndactyly and polydactyly of the great toe. UMLS:C4021618 Polysyndactyly of big toe Polysyndactyly of great toe human_phenotype HP:0005873 Polysyndactyly of hallux HP:0005873 Combined syndactyly and polydactyly of the great toe. https://orcid.org/0000-0002-0736-9199 Polysyndactyly of big toe https://orcid.org/0000-0001-5208-3432 true HP:0005874 UMLS:C4025120 human_phenotype HP:0005875 Increased dermatoglyphic whorls HP:0005875 Progressively worsening joint contractures. UMLS:C3279322 Joint contractures, progressive human_phenotype HP:0005876 Progressive flexion contractures HP:0005876 Progressively worsening joint contractures. https://orcid.org/0000-0002-0736-9199 UMLS:C4025119 human_phenotype HP:0005877 Multiple small vertebral fractures HP:0005877 UMLS:C4025118 human_phenotype HP:0005878 Enlarged sagittal diameter of the cervical canal HP:0005878 Multiple bent (flexed) finger joints that cannot be straightened actively or passively. UMLS:C1393871 Congenital finger contractures human_phenotype HP:0005879 Congenital finger flexion contractures HP:0005879 Multiple bent (flexed) finger joints that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. HP:0100325 UMLS:C4025117 Fused long bone of hand with innermost finger bone human_phenotype HP:0005880 Metacarpophalangeal synostosis HP:0005880 Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. https://orcid.org/0000-0002-0736-9199 Fused long bone of hand with innermost finger bone https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:240220009 UMLS:C0410648 human_phenotype HP:0005881 Spinal instability HP:0005881 UMLS:C4025116 human_phenotype HP:0005882 Dermatoglyphic variants HP:0005882 true HP:0005883 true HP:0005884 A lack of bone mineralization of one or more body of cervical vertebra. UMLS:C4025115 human_phenotype HP:0005885 Absent ossification of cervical vertebral bodies HP:0005885 A lack of bone mineralization of one or more body of cervical vertebra. https://orcid.org/0000-0002-0736-9199 Absence of a digit or of one or more phalanges of a finger. UMLS:C4025114 human_phenotype HP:0005886 Aphalangy of the hands HP:0005886 Absence of a digit or of one or more phalanges of a finger. https://orcid.org/0000-0002-0736-9199 true HP:0005887 true HP:0005888 true HP:0005889 Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. Enlargement of the inner surface of the skull bones Hypertrophy of the internal surface of the cranial bones Increased ossification of the internal surface of the cranial bones Overgrowth of the inside of the skull Thick inner surface of the skull bones Thick internal surface of the cranial bones UMLS:C1840404 UMLS:C4280468 UMLS:C4280469 UMLS:C4280470 UMLS:C4280471 UMLS:C4280472 Excessive growth of inner surface of the skull bones Hyperostosis of the internal surface of the cranial bone Hyperostosis of the internal surface of the cranial bones Overgrowth of the inner surface of the skull bones human_phenotype HP:0005890 Hyperostosis cranialis interna HP:0005890 Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. https://orcid.org/0000-0002-0736-9199 Enlargement of the inner surface of the skull bones https://orcid.org/0000-0001-5889-4463 Hypertrophy of the internal surface of the cranial bones https://orcid.org/0000-0001-5889-4463 Increased ossification of the internal surface of the cranial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of the inside of the skull https://orcid.org/0000-0001-5889-4463 Thick inner surface of the skull bones https://orcid.org/0000-0001-5889-4463 Thick internal surface of the cranial bones https://orcid.org/0000-0001-5889-4463 Excessive growth of inner surface of the skull bones https://orcid.org/0000-0001-5889-4463 Hyperostosis of the internal surface of the cranial bone https://orcid.org/0000-0001-5889-4463 Hyperostosis of the internal surface of the cranial bones https://orcid.org/0000-0001-5889-4463 Overgrowth of the inner surface of the skull bones https://orcid.org/0000-0001-5889-4463 Progressive bending or abnormal curvature of the forearm skeleton. UMLS:C3152020 Progressive forearm curvature human_phenotype HP:0005891 Progressive forearm bowing HP:0005891 Progressive bending or abnormal curvature of the forearm skeleton. https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula. UMLS:C4025113 Fusion of innermost shinbone and calf bone Proximal tibiofibular synostosis human_phenotype HP:0005892 Proximal tibial and fibular fusion HP:0005892 A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula. PMID:1872166 Fusion of innermost shinbone and calf bone https://orcid.org/0000-0001-5208-3432 true HP:0005893 Duplication of the metacarpal I bones. UMLS:C4025112 Double 1st long bones of hand human_phenotype HP:0005894 Double first metacarpals HP:0005894 Duplication of the metacarpal I bones. https://orcid.org/0000-0002-0736-9199 Double 1st long bones of hand https://orcid.org/0000-0001-5208-3432 UMLS:C4025111 human_phenotype HP:0005895 Radial deviation of thumb terminal phalanx HP:0005895 true HP:0005896 Severe degree of osteoporosis. HP:0005838 UMLS:C1859443 Severe generalised osteoporosis Severe, generalised osteoporosis Severe, generalized osteoporosis human_phenotype HP:0005897 Severe generalized osteoporosis HP:0005897 Severe degree of osteoporosis. https://orcid.org/0000-0002-0736-9199 Severe generalised osteoporosis Severe, generalised osteoporosis true HP:0005898 HP:0100255 human_phenotype HP:0005899 obsolete Metaphyseal dysostosis true HP:0005899 Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). UMLS:C3276324 Fifth metacarpal notched on ulnar side human_phenotype HP:0005900 Fifth metacarpal with ulnar notch HP:0005900 Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). https://orcid.org/0000-0002-0736-9199 HP:0002754 human_phenotype HP:0005901 obsolete Chronic recurrent multifocal osteomyelitis true HP:0005901 true HP:0005902 true HP:0005903 true HP:0005904 The presence of an abnormal curvature of the cervical vertebral column. UMLS:C3151523 Abnormal neck curve human_phenotype HP:0005905 Abnormal cervical curvature HP:0005905 The presence of an abnormal curvature of the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 Abnormal neck curve https://orcid.org/0000-0001-6908-9849 An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. UMLS:C4021617 Mastoid processes poorly pneumatized human_phenotype HP:0005906 Delayed pneumatization of the mastoid process HP:0005906 An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 true HP:0005907 true HP:0005908 true HP:0005909 Rhomboid or triangular shaped 5th (little) finger middle phalanx. UMLS:C4021616 Rhomboid or triangular shaped fifth finger middle phalanx human_phenotype HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx HP:0005910 Rhomboid or triangular shaped 5th (little) finger middle phalanx. https://orcid.org/0000-0002-0736-9199 true HP:0005911 Atresia of the biliary tree. 2008-03-27T02:07:00Z SNOMEDCT_US:77480004 SNOMEDCT_US:82821008 UMLS:C0005411 Atresia of bile ducts Biliary duct atresia human_phenotype HP:0005912 Biliary atresia HP:0005912 Atresia of the biliary tree. https://orcid.org/0000-0002-0736-9199 2008-03-27T02:13:00Z UMLS:C4025110 Abnormality of end part of long bone of hand Abnormality of metacarpal epiphyses human_phenotype HP:0005913 Abnormal metacarpal epiphysis morphology HP:0005913 Abnormality of end part of long bone of hand https://orcid.org/0000-0001-5208-3432 Aplasia or Hypoplasia affecting the metacarpal bones. 2008-03-27T02:14:00Z HP:0006007 UMLS:C1836192 Absent or hypoplastic metacarpals Absent/small long bones of hand Absent/underdeveloped long bones of hand Aplastic/hypoplastic metacarpals Hypoplastic metacarpals Hypoplastic/absent metacarpal bones Hypoplastic/absent metacarpals Metacarpal aplasia/hypoplasia human_phenotype HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones HP:0005914 Aplasia or Hypoplasia affecting the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Absent/small long bones of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped long bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0005915 Any abnormal shape or structure of the metacarpal bones. 2008-03-27T02:17:00Z HP:0001163 HP:0010556 UMLS:C4021615 Abnormal shape of long bones of hand Abnormal shape of metacarpal bones human_phenotype HP:0005916 Abnormal metacarpal morphology HP:0005916 Any abnormal shape or structure of the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Abnormal shape of long bones of hand https://orcid.org/0000-0001-5208-3432 The presence of more than the normal number of metacarpal bones. 2008-03-27T02:18:00Z SNOMEDCT_US:91846008 UMLS:C0545617 Extra long bones of hand human_phenotype HP:0005917 Supernumerary metacarpal bones HP:0005917 The presence of more than the normal number of metacarpal bones. https://orcid.org/0000-0002-0736-9199 Extra long bones of hand https://orcid.org/0000-0001-5208-3432 Abnormalities affecting the phalanx of finger. 2008-03-27T02:19:00Z HP:0005786 HP:0006259 UMLS:C4021614 Abnormal form of phalanges of the hand Abnormality of phalanx of finger Abnormality of the finger bones Abnormality of the phalanges Abnormality of the phalanges of the hand human_phenotype HP:0005918 This category is a supercategory for abnormalties affect phalanges of the hand. Abnormal finger phalanx morphology HP:0005918 Abnormalities affecting the phalanx of finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the finger bones https://orcid.org/0000-0001-5208-3432 true HP:0005919 Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). 2008-03-27T02:21:00Z HP:0009151 UMLS:C4021613 human_phenotype HP:0005920 Abnormal epiphysis morphology of the phalanges of the hand HP:0005920 Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). https://orcid.org/0000-0002-0736-9199 HP:0010660 human_phenotype HP:0005921 obsolete Abnormal ossification of hand bones true HP:0005921 Any structural anomaly of the hand. 2008-03-27T02:25:00Z HP:0003098 UMLS:C4025109 Abnormal shape of hand human_phenotype HP:0005922 This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. Abnormal hand morphology HP:0005922 Any structural anomaly of the hand. https://orcid.org/0000-0002-0736-9199 Abnormal shape of hand https://orcid.org/0000-0001-5208-3432 2008-03-27T02:27:00Z UMLS:C4025108 Abnormalities of the metaphyses of the hand Abnormality of the wide portion of the hand bone human_phenotype HP:0005923 Abnormal hand metaphysis morphology HP:0005923 Abnormality of the wide portion of the hand bone https://orcid.org/0000-0001-5208-3432 Any abnormality of the epiphyses of the phalanges or metacarpal bones. 2008-03-27T02:28:00Z UMLS:C4025107 Abnormality of the end part of the hand bone Abnormality of the end part of the hand bones Abnormality of the epiphyses of the fingers Abnormality of the epiphyses of the hand Abnormality of the epiphyses of the phalanges of the hand human_phenotype HP:0005924 Abnormal hand epiphysis morphology HP:0005924 Any abnormality of the epiphyses of the phalanges or metacarpal bones. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the hand bone https://orcid.org/0000-0001-5208-3432 2008-03-27T02:28:00Z UMLS:C4025106 Abnormalities of shaft of long bone of the hand Abnormalities of the diaphyses of the hand human_phenotype HP:0005925 Abnormal hand diaphysis morphology HP:0005925 Abnormalities of shaft of long bone of the hand https://orcid.org/0000-0001-5208-3432 An anomaly of the outer shell (cortex) of a hand bone. 2008-03-27T02:29:00Z UMLS:C4025105 Abnormality of hand cortical bone Abnormality of the cortex of hand bones human_phenotype HP:0005926 Abnormal hand cortical bone morphology HP:0005926 Absence (due to failure to form) or underdevelopment of the bones of the hand. 2008-03-27T02:29:00Z UMLS:C4021612 Absent/small hand bones Absent/underdeveloped hand bones Hypoplasia/absence of hand bones human_phenotype HP:0005927 Aplasia/hypoplasia involving bones of the hand HP:0005927 Absence (due to failure to form) or underdevelopment of the bones of the hand. https://orcid.org/0000-0002-0736-9199 Absent/small hand bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped hand bones https://orcid.org/0000-0001-5208-3432 2008-03-27T02:34:00Z UMLS:C4025104 Bone fusion involving the calf bones human_phenotype HP:0005928 Synostosis involving the fibula HP:0005928 Bone fusion involving the calf bones https://orcid.org/0000-0001-5208-3432 2008-03-27T02:34:00Z UMLS:C4025103 Bone fusion involving the shinbone human_phenotype HP:0005929 Synostosis involving the tibia HP:0005929 Bone fusion involving the shinbone https://orcid.org/0000-0001-5208-3432 An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. 2008-03-27T03:00:00Z HP:0000936 UMLS:C4021611 Abnormal shape of end part of bone Abnormality of epiphysis morphology Abnormality of the epiphyses Anomaly of the epiphyses Epiphyseal abnormality human_phenotype HP:0005930 Abnormal epiphysis morphology HP:0005930 An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. https://orcid.org/0000-0002-0736-9199 Abnormal shape of end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0005931 An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. 2008-03-27T03:21:00Z UMLS:C4025102 human_phenotype HP:0005932 On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. Progressive corticomedullary differentiation (CMD) can be visualized as an echogenic cortex and a hypoechoic medulla. This CMD should be visible during the midtrimester sonographic evaluation. Abnormal renal corticomedullary differentiation HP:0005932 An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. PMID:22528889 https://orcid.org/0000-0002-0736-9199 true HP:0005933 UMLS:C4025101 human_phenotype HP:0005934 Imperfect vocal cord adduction HP:0005934 true HP:0005935 true HP:0005936 true HP:0005937 Abnormal arrangement of the structures of the motile cilium. UMLS:C4025100 human_phenotype HP:0005938 Abnormal respiratory motile cilium morphology HP:0005938 Abnormal arrangement of the structures of the motile cilium. MP:0011050 https://orcid.org/0000-0002-0736-9199 UMLS:C4025099 human_phenotype HP:0005939 Multiple bilateral pneumothoraces HP:0005939 true HP:0005940 UMLS:C4025098 human_phenotype HP:0005941 Intermittent hyperpnea at rest HP:0005941 Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. SNOMEDCT_US:8549006 UMLS:C0238378 Filling of the alveoli with alveolar macrophages human_phenotype Filling of the alveoli with desquamated epithelial cells Intra-alveolar accumulation of macrophages HP:0005942 The name originated from the belief that the dominant histologic feature was desquamation of epithelial cells. However, this is now recognized to be intra-alveolar macrophage accumulation rather than desquamation of epithelial cells as originally thought by Liebow and Carrington. In adults the condition is almost invariable associated with cigarette smoke. However, rare cases occur in nonsmokers, some of whom have had exposure to environmental inhalation exposures including passive exposure to cigarette smoke. In children genetically caused surfactant dysfunction syndromes may have the histological pattern of DIP. Desquamative interstitial pneumonitis HP:0005942 Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. PMID:14338290 PMID:16728712 PMID:16738196 PMID:23728865 PMID:25657025 https://orcid.org/0000-0002-7371-8158 SNOMEDCT_US:87317003 UMLS:C0162297 Breathing cessation human_phenotype HP:0005943 Respiratory arrest HP:0005943 Breathing cessation https://orcid.org/0000-0001-5208-3432 Bilateral lack of development of the lungs. HP:0006550 Fyler:4206 UMLS:C4021610 Absent lungs Bilateral pulmonary agenesis human_phenotype HP:0005944 Bilateral lung agenesis HP:0005944 Bilateral lack of development of the lungs. https://orcid.org/0000-0002-0736-9199 Absent lungs Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. SNOMEDCT_US:61169001 UMLS:C0264306 human_phenotype HP:0005945 Laryngeal obstruction HP:0005945 Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress. https://orcid.org/0000-0002-0736-9199 UMLS:C4025097 human_phenotype HP:0005946 Ventilator dependence with inability to wean HP:0005946 Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. UMLS:C3806286 Decreased sensitivity to hypoxaemia Decreased sensitivity to hypoxemia human_phenotype HP:0005947 Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). Decreased sensitivity to hypoxemia HP:0005947 Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. https://orcid.org/0000-0002-0736-9199 Decreased sensitivity to hypoxaemia https://orcid.org/0000-0001-6908-9849 Decreased sensitivity to hypoxemia The presence of multiple lung cysts. UMLS:C1384901 Cystic lung disease Multiple lung cysts human_phenotype HP:0005948 Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH. Multiple pulmonary cysts HP:0005948 The presence of multiple lung cysts. PMID:20028879 Recurrent episodes of apnea occurring during infancy. UMLS:C3807980 human_phenotype HP:0005949 Apneic episodes in infancy HP:0005949 Recurrent episodes of apnea occurring during infancy. https://orcid.org/0000-0002-0736-9199 A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. SNOMEDCT_US:297159008 UMLS:C0281890 Laryngeal webs Partial laryngeal atresia Glottic web human_phenotype HP:0005950 Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). Laryngeal web HP:0005950 A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. https://orcid.org/0000-0002-0736-9199 Laryngeal webs https://orcid.org/0000-0002-5316-1399 UMLS:C4025096 human_phenotype HP:0005951 Progressive inspiratory stridor HP:0005951 HP:0002795 human_phenotype HP:0005952 obsolete Decreased pulmonary function true HP:0005952 true HP:0005953 SNOMEDCT_US:233949008 UMLS:C0340548 Pulmonary hemangiomas human_phenotype HP:0005954 Pulmonary capillary hemangiomatosis HP:0005954 true HP:0005955 Abnormal shortening of the larynx in the anteroposterior (front to back) axis. UMLS:C3805994 human_phenotype HP:0005956 Anteroposteriorly shortened larynx HP:0005956 Abnormal shortening of the larynx in the anteroposterior (front to back) axis. https://orcid.org/0000-0002-0736-9199 UMLS:C3808046 human_phenotype HP:0005957 Breathing dysregulation HP:0005957 true HP:0005958 An impairment of gluconeogenesis. UMLS:C3279336 Gluconeogenesis impaired human_phenotype HP:0005959 Impaired gluconeogenesis HP:0005959 An impairment of gluconeogenesis. HPO_CONTRIBUTOR:gcarletti true HP:0005960 The concentration of arginine in the blood circulation is below the lower limit of normal. UMLS:C1859735 UMLS:C4025095 Decreased arginine concentration Decreased arginine level Decreased arginine level in blood Hypoargininemia Low blood arginine levels Reduced arginine concentration Reduced arginine level Reduced arginine level in blood human_phenotype Arginine deficiency HP:0005961 Hypoargininemia HP:0005961 Low blood arginine levels https://orcid.org/0000-0001-5208-3432 true HP:0005962 true HP:0005963 Episodes of reduced body temperature. HP:0005970 UMLS:C1837639 Intermittent abnormally low body temperature Intermittent hypothermia human_phenotype HP:0005964 Intermittent hypothermia HP:0005964 Episodes of reduced body temperature. https://orcid.org/0000-0002-0736-9199 Intermittent abnormally low body temperature https://orcid.org/0000-0001-6908-9849 Intermittent hypothermia true HP:0005965 true HP:0005966 UMLS:C1840372 human_phenotype HP:0005967 Mixed respiratory and metabolic acidosis HP:0005967 Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. UMLS:C1820737 UMLS:C3279038 Temperature instability human_phenotype Body temperature instability HP:0005968 Temperature instability HP:0005968 Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. https://orcid.org/0000-0002-0736-9199 Temperature instability Body temperature instability https://orcid.org/0000-0002-5316-1399 true HP:0005969 true HP:0005970 true HP:0005971 Acidosis because of respiratory retention of carbon dioxide. SNOMEDCT_US:12326000 UMLS:C0001127 human_phenotype HP:0005972 Respiratory acidosis HP:0005972 Acidosis because of respiratory retention of carbon dioxide. https://orcid.org/0000-0002-0736-9199 Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. SNOMEDCT_US:20052008 UMLS:C0016751 Fructose malabsorption human_phenotype HP:0005973 Fructose intolerance HP:0005973 Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. PMID:24357350 Intermittent episodes of ketoacidosis. HP:0005981 HP:0005983 UMLS:C1859860 Ketoacidosis, episodic human_phenotype HP:0005974 Episodic ketoacidosis HP:0005974 Intermittent episodes of ketoacidosis. https://orcid.org/0000-0002-0736-9199 true HP:0005975 UMLS:C1865880 human_phenotype HP:0005976 Hyperkalemic metabolic acidosis HP:0005976 UMLS:C0740895 human_phenotype HP:0005977 Hypochloremic metabolic alkalosis HP:0005977 A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. HP:0005965 HP:0100652 SNOMEDCT_US:44054006 UMLS:C0011860 Diabetes mellitus Type II Diabetes mellitus, noninsulin-dependent NIDDM NIDDM diabetes mellitus Non-insulin dependent diabetes Noninsulin dependent diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes human_phenotype Diabetes mellitus type 2 Noninsulin-dependent diabetes mellitus HP:0005978 Persons with type II diabetes mellitus rarely develop ketoacidosis. Type II diabetes mellitus HP:0005978 A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. https://orcid.org/0000-0002-0736-9199 NIDDM https://orcid.org/0000-0002-5316-1399 Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. HP:0005971 UMLS:C1854704 Starvation ketoacidosis human_phenotype HP:0005979 Metabolic ketoacidosis HP:0005979 true HP:0005980 true HP:0005981 A reduction in phenylalanine 4-monooxygenase level. SNOMEDCT_US:7573000 UMLS:C0751434 UMLS:C4025094 human_phenotype Phenylalanine hydroxylase deficiency HP:0005982 Reduced phenylalanine hydroxylase level HP:0005982 A reduction in phenylalanine 4-monooxygenase level. https://orcid.org/0000-0002-0736-9199 true HP:0005983 HP:0011432 human_phenotype HP:0005984 obsolete Elevated maternal serum alpha-fetoprotein true HP:0005984 true HP:0005985 Limited neck mobility SNOMEDCT_US:161882006 SNOMEDCT_US:405947006 UMLS:C0151315 UMLS:C1320474 UMLS:C1847392 Limitation of neck motion Restricted neck movement human_phenotype HP:0005986 Limitation of neck motion HP:0005986 Limited neck mobility https://orcid.org/0000-0001-5889-4463 Limitation of neck motion Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. SNOMEDCT_US:237570007 UMLS:C0342208 Multinodular goitre human_phenotype HP:0005987 Multinodular goiter HP:0005987 Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. https://orcid.org/0000-0002-0538-4547 Multinodular goitre A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. SNOMEDCT_US:268240006 UMLS:C0079352 Torticollis, congenital human_phenotype HP:0005988 Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. Congenital muscular torticollis HP:0005988 A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. https://orcid.org/0000-0002-0736-9199 Excess skin around the neck, often lying in horizontal folds. HP:0005993 HP:0005996 UMLS:C1840319 Excess neck skin Excess skin over the neck Excessive nuchal skin Redundant neck skin Redundant nuchal skin Redundant skin folds of neck Redundant skin over the neck human_phenotype HP:0005989 With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. Redundant neck skin HP:0005989 Excess skin around the neck, often lying in horizontal folds. PMID:19125436 Excess neck skin https://orcid.org/0000-0001-5889-4463 Excess skin over the neck https://orcid.org/0000-0001-5889-4463 Redundant neck skin Redundant skin folds of neck Redundant skin over the neck Developmental hypoplasia of the thyroid gland. SNOMEDCT_US:367524008 UMLS:C0151516 Hypoplastic thyroid Small thyroid gland human_phenotype HP:0005990 Thyroid hypoplasia HP:0005990 Developmental hypoplasia of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Small thyroid gland Reduced ability to lower the chin towards the chest by bending the neck. UMLS:C1864449 Limited cervical flexion Limited neck flexibility human_phenotype HP:0005991 Limited neck flexion HP:0005991 Limited cervical flexion https://orcid.org/0000-0001-5889-4463 Limited neck flexibility https://orcid.org/0000-0001-5889-4463 true HP:0005992 true HP:0005993 Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. SNOMEDCT_US:419153005 UMLS:C0018023 Nodular goitre human_phenotype HP:0005994 Nodular goiter HP:0005994 Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. https://orcid.org/0000-0002-0736-9199 Nodular goitre Reduced amount of adipose tissue in the region of the neck. UMLS:C1837763 Loss of adipose tissue around the neck Loss of fat around neck human_phenotype HP:0005995 Decreased adipose tissue around neck HP:0005995 Reduced amount of adipose tissue in the region of the neck. https://orcid.org/0000-0002-0736-9199 Loss of fat around neck https://orcid.org/0000-0001-6908-9849 true HP:0005996 UMLS:C1867006 Neck joint contracture Restricted neck mobility due to contractures Restricted neck movement due to contractures human_phenotype HP:0005997 Neck joint contracture HP:0005997 Restricted neck mobility due to contractures https://orcid.org/0000-0001-5889-4463 Restricted neck movement due to contractures true HP:0005998 A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. SNOMEDCT_US:204974003 SNOMEDCT_US:49534003 UMLS:C0266320 human_phenotype HP:0005999 Ureteral atresia HP:0005999 A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. https://orcid.org/0000-0002-0736-9199 Obstruction of the flow of urine through the ureter. Fyler:4492 SNOMEDCT_US:20018005 UMLS:C0041956 human_phenotype HP:0006000 Ureteral obstruction HP:0006000 Obstruction of the flow of urine through the ureter. https://orcid.org/0000-0002-0736-9199 true HP:0006001 true HP:0006002 true HP:0006003 true HP:0006004 true HP:0006005 UMLS:C1843228 Degeneration of small hand muscles human_phenotype HP:0006006 Hypotrophy of the small hand muscles HP:0006006 Degeneration of small hand muscles https://orcid.org/0000-0001-5208-3432 true HP:0006007 Short digits on one side UMLS:C1868164 UMLS:C4280467 human_phenotype HP:0006008 Unilateral brachydactyly HP:0006008 Short digits on one side https://orcid.org/0000-0001-5208-3432 Increased side-to-side width of one or more phalanges of the fingers or toes. HP:0006030 HP:0006249 UMLS:C1855185 Broad phalanges Wide digital bones Wide phalanges Widened phalanges human_phenotype HP:0006009 Broad phalanx HP:0006009 Increased side-to-side width of one or more phalanges of the fingers or toes. https://orcid.org/0000-0002-0736-9199 Wide digital bones https://orcid.org/0000-0001-5208-3432 true HP:0006010 Severely shortened metacarpal with a cuboidal appearance. UMLS:C4025093 Short, cube shaped long bone of hand human_phenotype HP:0006011 The metacarpals are normally tubular in appearance. Cuboidal metacarpal HP:0006011 Severely shortened metacarpal with a cuboidal appearance. https://orcid.org/0000-0002-0736-9199 Short, cube shaped long bone of hand https://orcid.org/0000-0001-5208-3432 UMLS:C1850159 Broad shaft of long bone of hand human_phenotype HP:0006012 Widened metacarpal shaft HP:0006012 Broad shaft of long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0006013 UMLS:C1860111 Abnormally shaped wrist bones human_phenotype HP:0006014 Abnormally shaped carpal bones HP:0006014 Abnormally shaped wrist bones https://orcid.org/0000-0001-5208-3432 true HP:0006015 Delay in the process of formation and maturation of the epiphysis of one or more phalanx. UMLS:C4021609 Delayed phalangeal epiphyseal bone maturation human_phenotype Delayed bone maturation of end part of digital bone HP:0006016 Delayed phalangeal epiphyseal ossification HP:0006016 Delay in the process of formation and maturation of the epiphysis of one or more phalanx. https://orcid.org/0000-0002-0736-9199 Delayed bone maturation of end part of digital bone https://orcid.org/0000-0001-5208-3432 true HP:0006017 true HP:0006018 UMLS:C1861396 Decreased space in hinge joint human_phenotype HP:0006019 Reduced proximal interphalangeal joint space HP:0006019 Decreased space in hinge joint https://orcid.org/0000-0001-5208-3432 true HP:0006020 true HP:0006021 true HP:0006022 true HP:0006023 true HP:0006024 true HP:0006025 UMLS:C1850632 Rounded end part of bone human_phenotype HP:0006026 Rounded epiphyses HP:0006026 Rounded end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0006027 Metaphyseal cupping affecting the metacarpal bones. HP:0006131 UMLS:C1855171 Cupping of wide portion of long bone of hand Metacarpal/metaphyseal cupping human_phenotype HP:0006028 Metaphyseal cupping of metacarpals HP:0006028 Metaphyseal cupping affecting the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Cupping of wide portion of long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0006029 true HP:0006030 true HP:0006031 true HP:0006032 true HP:0006033 true HP:0006034 UMLS:C1857005 Cone-shaped end part of digital bones 2 to 5 human_phenotype HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5 HP:0006035 Cone-shaped end part of digital bones 2 to 5 https://orcid.org/0000-0001-5208-3432 true HP:0006036 true HP:0006037 true HP:0006038 true HP:0006039 UMLS:C1861531 Long 2nd long bone of hand human_phenotype HP:0006040 Long second metacarpal HP:0006040 Long 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0006041 Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. UMLS:C1861373 Y-shaped long bone of hand human_phenotype HP:0006042 Y-shaped metacarpals HP:0006042 Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. https://orcid.org/0000-0002-0736-9199 Y-shaped long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0006043 true HP:0006044 UMLS:C1849740 Short pointed digital bones human_phenotype HP:0006045 Short pointed phalanges HP:0006045 Short pointed digital bones https://orcid.org/0000-0001-5208-3432 true HP:0006046 true HP:0006047 Abnormal increase in width of the distal region of the metacarpal bones. UMLS:C1865254 Wide outermost end of long bone human_phenotype HP:0006048 Distal widening of metacarpals HP:0006048 Abnormal increase in width of the distal region of the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Wide outermost end of long bone https://orcid.org/0000-0001-5208-3432 true HP:0006049 true HP:0006050 UMLS:C1834347 human_phenotype HP:0006051 Metacarpal periosteal thickening HP:0006051 true HP:0006052 true HP:0006053 true HP:0006054 UMLS:C1833881 human_phenotype HP:0006055 Ulnar deviated club hands HP:0006055 true HP:0006056 true HP:0006057 true HP:0006058 A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. UMLS:C1855239 Cone-shaped end part of long bone human_phenotype Metacarpal cone-shaped epiphyses HP:0006059 Cone-shaped metacarpal epiphyses HP:0006059 A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of long bone https://orcid.org/0000-0001-5208-3432 UMLS:C1862420 Tombstone-shaped innermost digital bones human_phenotype HP:0006060 Tombstone-shaped proximal phalanges HP:0006060 Tombstone-shaped innermost digital bones https://orcid.org/0000-0001-5208-3432 true HP:0006061 true HP:0006062 true HP:0006063 UMLS:C1840089 Limited movement of hinge joints human_phenotype HP:0006064 Limited interphalangeal movement HP:0006064 Limited movement of hinge joints https://orcid.org/0000-0001-5208-3432 true HP:0006065 true HP:0006066 A delay in the process of formation and maturation of the epiphysis of one or more long bones. UMLS:C1835573 Multiple carpal ossification centres human_phenotype HP:0006067 Multiple carpal ossification centers HP:0006067 A delay in the process of formation and maturation of the epiphysis of one or more long bones. https://orcid.org/0000-0002-0736-9199 Multiple carpal ossification centres true HP:0006068 HP:0001216 human_phenotype HP:0006069 obsolete Severe carpal ossification delay true HP:0006069 A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. HP:0005674 UMLS:C2677209 Metacarpal/phalangeal joint contractures human_phenotype HP:0006070 In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be reserved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. Metacarpophalangeal joint contracture HP:0006070 A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. https://orcid.org/0000-0002-0736-9199 true HP:0006071 true HP:0006072 true HP:0006073 true HP:0006074 true HP:0006075 true HP:0006076 Absence of the proximal interphalangeal flexion creases of the fingers. UMLS:C1850048 human_phenotype HP:0006077 Absent proximal finger flexion creases HP:0006077 Absence of the proximal interphalangeal flexion creases of the fingers. https://orcid.org/0000-0002-0736-9199 true HP:0006078 true HP:0006079 true HP:0006080 true HP:0006081 true HP:0006082 true HP:0006083 true HP:0006084 true HP:0006085 UMLS:C1850160 human_phenotype HP:0006086 Thin metacarpal cortices HP:0006086 true HP:0006087 UMLS:C1861357 human_phenotype HP:0006088 1-5 finger complete cutaneous syndactyly HP:0006088 UMLS:C1856953 Excessive sweating of hands human_phenotype HP:0006089 Palmar hyperhidrosis HP:0006089 Excessive sweating of hands https://orcid.org/0000-0001-5208-3432 true HP:0006090 true HP:0006091 Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). UMLS:C1856742 Incorrect alignment of wrist bone human_phenotype HP:0006092 Malaligned carpal bone HP:0006092 Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). https://orcid.org/0009-0006-4530-3154 Incorrect alignment of wrist bone https://orcid.org/0000-0001-5208-3432 true HP:0006093 SNOMEDCT_US:298193009 UMLS:C0574974 Increased mobility in finger joint human_phenotype HP:0006094 Finger joint hypermobility HP:0006094 Increased mobility in finger joint https://orcid.org/0000-0001-5208-3432 UMLS:C1835101 Wide tips of outermost digital bone human_phenotype HP:0006095 Wide tufts of distal phalanges HP:0006095 Wide tips of outermost digital bone https://orcid.org/0000-0001-5208-3432 true HP:0006096 Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. HP:0006133 UMLS:C1856889 Partial or complete syndactyly 3rd-4th fingers Webbed 3rd-4th finger Webbed 3rd-4th fingers human_phenotype HP:0006097 3-4 finger osseus syndactyly HP:0006097 Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. https://orcid.org/0009-0006-4530-3154 Webbed 3rd-4th fingers https://orcid.org/0000-0001-5208-3432 true HP:0006098 Increased mobility of one ore more metacarpophalangeal joint. UMLS:C4025092 human_phenotype HP:0006099 Metacarpophalangeal joint hyperextensibility HP:0006099 Increased mobility of one ore more metacarpophalangeal joint. https://orcid.org/0000-0002-0736-9199 true HP:0006100 Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". HP:0006057 SNOMEDCT_US:249769001 SNOMEDCT_US:268251006 SNOMEDCT_US:34048007 UMLS:C0221352 Partial syndactyly human_phenotype HP:0006101 Finger syndactyly HP:0006101 Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". https://orcid.org/0000-0002-0736-9199 true HP:0006102 true HP:0006103 true HP:0006104 true HP:0006105 UMLS:C1847191 human_phenotype HP:0006106 Absent trapezoid bone HP:0006106 Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. HP:0006246 UMLS:C1861248 Finger pad telangiectases Small dilated blood vessels in fingerpads human_phenotype HP:0006107 Fingerpad telangiectases HP:0006107 Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. https://orcid.org/0000-0002-0736-9199 Small dilated blood vessels in fingerpads https://orcid.org/0000-0001-5208-3432 Metacarpal that becomes thinner toward the distal end. UMLS:C4025091 Tapered long bones of hand human_phenotype HP:0006108 Tapered metacarpals HP:0006108 Metacarpal that becomes thinner toward the distal end. https://orcid.org/0000-0002-0736-9199 Tapered long bones of hand https://orcid.org/0000-0001-5208-3432 Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). HP:0006031 UMLS:C1862479 UMLS:C4020821 Absent interphalangeal creases human_phenotype Aplasia of the interphalangeal creases HP:0006109 Absent phalangeal crease HP:0006109 Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). https://orcid.org/0000-0002-0736-9199 Short, hypoplastic middle phalanx of finger, affecting all fingers. UMLS:C1856912 human_phenotype HP:0006110 Shortening of all middle phalanges of the fingers HP:0006110 Short, hypoplastic middle phalanx of finger, affecting all fingers. https://orcid.org/0000-0002-0736-9199 true HP:0006111 UMLS:C1969287 human_phenotype HP:0006112 Expanded phalanges with widened medullary cavities HP:0006112 true HP:0006113 The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). UMLS:C1861872 Multiple palm lines human_phenotype HP:0006114 Multiple palmar creases HP:0006114 The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). https://orcid.org/0000-0002-0736-9199 Multiple palm lines https://orcid.org/0000-0001-5208-3432 true HP:0006115 true HP:0006116 true HP:0006117 Hypoplasia of all of the distal phalanx of finger. HP:0005658 UMLS:C4021608 Shortening of all outermost bones of the fingers human_phenotype Brachytelephalangy HP:0006118 Shortening of all distal phalanges of the fingers HP:0006118 Hypoplasia of all of the distal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Shortening of all outermost bones of the fingers https://orcid.org/0000-0001-5208-3432 Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. UMLS:C1854749 Pointed innermost long bone of hand Pointed proximal metacarpals human_phenotype HP:0006119 Proximal tapering of metacarpals HP:0006119 Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. https://orcid.org/0009-0006-4530-3154 Pointed innermost long bone of hand https://orcid.org/0000-0001-5208-3432 Pointed proximal metacarpals https://orcid.org/0009-0006-4530-3154 true HP:0006120 A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. HP:0001226 HP:0001862 HP:0005040 UMLS:C1860099 human_phenotype HP:0006121 Acral ulceration HP:0006121 A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. PMID:20862203 true HP:0006122 true HP:0006123 true HP:0006124 true HP:0006125 true HP:0006126 Increased length of the proximal phalanx of finger. UMLS:C4025090 Long innermost finger bone human_phenotype HP:0006127 Long proximal phalanx of finger HP:0006127 Increased length of the proximal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Long innermost finger bone https://orcid.org/0000-0001-5208-3432 true HP:0006128 Rounding and broadening of the tufts of the distal phalanges. UMLS:C1844822 Drumstick shaped digital bones human_phenotype HP:0006129 This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). Drumstick terminal phalanges HP:0006129 Rounding and broadening of the tufts of the distal phalanges. https://orcid.org/0000-0002-0736-9199 Drumstick shaped digital bones https://orcid.org/0000-0001-5208-3432 true HP:0006130 true HP:0006131 true HP:0006132 true HP:0006133 Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). UMLS:C1865035 Enlarged end part of long bone of hand human_phenotype HP:0006134 Enlarged metacarpal epiphyses HP:0006134 Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges). https://orcid.org/0000-0002-0736-9199 Enlarged end part of long bone of hand https://orcid.org/0000-0001-5208-3432 UMLS:C1862133 Decreased finger mobility Decreased finger movement human_phenotype HP:0006135 Decreased finger mobility HP:0006135 Decreased finger mobility Decreased finger movement https://orcid.org/0000-0001-5208-3432 UMLS:C1855003 human_phenotype HP:0006136 Bilateral postaxial polydactyly HP:0006136 true HP:0006137 true HP:0006138 true HP:0006139 Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. UMLS:C1855620 Premature fusion of end part of digital bone human_phenotype HP:0006140 Premature fusion of phalangeal epiphyses HP:0006140 Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. https://orcid.org/0000-0002-0736-9199 Premature fusion of end part of digital bone https://orcid.org/0000-0001-5208-3432 true HP:0006141 true HP:0006142 Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger). UMLS:C1859481 Abnormal finger flexion creases human_phenotype HP:0006143 Abnormal finger flexion crease HP:0006143 Abnormal finger flexion creases Congenital hypoplasia of proximal phalanx of finger or all fingers. HP:0006021 UMLS:C4025089 Shortening of all innermost bones of the fingers human_phenotype HP:0006144 Shortening of all proximal phalanges of the fingers HP:0006144 Congenital hypoplasia of proximal phalanx of finger or all fingers. https://orcid.org/0000-0002-0736-9199 Shortening of all innermost bones of the fingers https://orcid.org/0000-0001-5208-3432 A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. UMLS:C1848597 Y-shaped central long bones of hand human_phenotype HP:0006145 Central Y-shaped metacarpal HP:0006145 A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. https://orcid.org/0000-0002-0736-9199 Y-shaped central long bones of hand https://orcid.org/0000-0001-5208-3432 Increased side-to-side width of the metacarpal epiphyses. UMLS:C4025088 Broad end part of long bone of hand human_phenotype HP:0006146 Broad metacarpal epiphyses HP:0006146 Increased side-to-side width of the metacarpal epiphyses. https://orcid.org/0000-0002-0736-9199 Broad end part of long bone of hand https://orcid.org/0000-0001-5208-3432 UMLS:C1861310 human_phenotype HP:0006147 Progressive fusion 2nd-5th proximal interphalangeal joints HP:0006147 true HP:0006148 UMLS:C1850855 human_phenotype HP:0006149 Increased laxity of fingers HP:0006149 A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. UMLS:C1849152 human_phenotype HP:0006150 Swan neck-like deformities of the fingers HP:0006150 A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. https://orcid.org/0000-0002-0736-9199 true HP:0006151 The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. HP:0006005 HP:0009857 HP:0009873 UMLS:C4021607 Fused innermost hinge joints Proximal interphalangeal joint synostoses Proximal symphalangism of hands human_phenotype HP:0006152 Proximal finger symphalangism HP:0006152 The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. https://orcid.org/0009-0006-4530-3154 Fused innermost hinge joints https://orcid.org/0000-0001-5208-3432 HP:0006257 human_phenotype HP:0006153 obsolete Disharmonious carpal bone true HP:0006153 true HP:0006154 Increased length of multiple or a single phalanx of finger. UMLS:C4025087 Long finger bone human_phenotype HP:0006155 Long phalanx of finger HP:0006155 Increased length of multiple or a single phalanx of finger. https://orcid.org/0000-0002-0736-9199 Long finger bone https://orcid.org/0000-0001-5208-3432 Bending or curvature of a thumb towards the ulnar side (towards the ring finger). Curved thumb deviated towards palm SNOMEDCT_US:299137000 UMLS:C0575904 UMLS:C4280465 Ulnar deviation of the 1st finger human_phenotype HP:0006156 Ulnar deviation of thumb HP:0006156 Bending or curvature of a thumb towards the ulnar side (towards the ring finger). PMID:10955488 https://orcid.org/0000-0002-0736-9199 Curved thumb deviated towards palm https://orcid.org/0000-0001-5208-3432 Prominent life line UMLS:C1865131 UMLS:C4280464 human_phenotype HP:0006157 Prominent palmar flexion creases HP:0006157 Prominent life line https://orcid.org/0000-0001-5208-3432 HP:0001187 human_phenotype HP:0006158 obsolete Finger joint hyperextensibility true HP:0006158 The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. HP:0001496 HP:0004056 UMLS:C4021606 Interdigital finger polydactyly human_phenotype Central hand polydactyly HP:0006159 Mesoaxial hand polydactyly HP:0006159 The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. https://orcid.org/0000-0002-0736-9199 Irregular morphology of one or more metacarpal bones. UMLS:C4025086 Irregular long bones of hand human_phenotype HP:0006160 Irregular metacarpals HP:0006160 Irregular morphology of one or more metacarpal bones. https://orcid.org/0000-0002-0736-9199 Irregular long bones of hand https://orcid.org/0000-0001-5208-3432 UMLS:C1856471 Short long bone of hand with rounded innermost ends human_phenotype HP:0006161 Short metacarpals with rounded proximal ends HP:0006161 Short long bone of hand with rounded innermost ends https://orcid.org/0000-0001-5208-3432 UMLS:C1854913 Soft tissue swelling of hinge joints human_phenotype HP:0006162 Soft tissue swelling of interphalangeal joints HP:0006162 Soft tissue swelling of hinge joints https://orcid.org/0000-0001-5208-3432 UMLS:C1859700 human_phenotype HP:0006163 Enlarged metacarpophalangeal joints HP:0006163 true HP:0006164 UMLS:C1862157 Proportionate shortening of all digits human_phenotype HP:0006165 Proportionate shortening of all digits HP:0006165 Proportionate shortening of all digits UMLS:C1859369 Cylindrical shaped long bones of hand human_phenotype HP:0006166 Tubular metacarpal bones HP:0006166 Cylindrical shaped long bones of hand https://orcid.org/0000-0001-5208-3432 UMLS:C4025085 Prominent innermost hinge joints human_phenotype HP:0006167 Prominent proximal interphalangeal joints HP:0006167 Prominent innermost hinge joints https://orcid.org/0000-0001-5208-3432 true HP:0006168 UMLS:C1833882 Decreased mobility 3rd-5th fingers human_phenotype HP:0006169 Decreased mobility 3rd-5th fingers HP:0006169 Decreased mobility 3rd-5th fingers A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. UMLS:C1862097 Chess-pawn shaped outermost bone human_phenotype HP:0006170 Chess-pawn distal phalanges HP:0006170 A morphological abnormality of distal phalanges such that they have the appearance of chess pawns. https://orcid.org/0000-0002-0736-9199 Chess-pawn shaped outermost bone https://orcid.org/0000-0001-5208-3432 true HP:0006171 UMLS:C1834961 Flattened, squared-off end part of tubular bones human_phenotype HP:0006172 Flattened, squared-off epiphyses of tubular bones HP:0006172 Flattened, squared-off end part of tubular bones https://orcid.org/0000-0001-5208-3432 true HP:0006173 Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. UMLS:C1840419 human_phenotype HP:0006174 Metacarpal diaphyseal endosteal sclerosis HP:0006174 Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. https://orcid.org/0000-0002-0736-9199 Thickening of connective tissue of innermost finger bone UMLS:C1834348 UMLS:C4280463 human_phenotype HP:0006175 Proximal phalangeal periosteal thickening HP:0006175 Thickening of connective tissue of innermost finger bone https://orcid.org/0000-0001-5208-3432 UMLS:C1839285 Two carpal ossification centres present at birth human_phenotype HP:0006176 Two carpal ossification centers present at birth HP:0006176 Two carpal ossification centres present at birth true HP:0006177 true HP:0006178 HP:0010221 UMLS:C1862693 Extra bone on end of second long bone of hand Pseudoepiphysis of the 2nd metacarpal human_phenotype HP:0006179 Pseudoepiphyses of second metacarpal HP:0006179 Extra bone on end of second long bone of hand https://orcid.org/0000-0001-5208-3432 Crowded wrist bones UMLS:C1863317 human_phenotype HP:0006180 Crowded carpal bones HP:0006180 Crowded wrist bones https://orcid.org/0000-0001-5208-3432 true HP:0006181 true HP:0006182 true HP:0006183 Poorly defined or shallow palmar creases. HP:0006178 UMLS:C1857483 Hypoplastic palmar creases Poorly formed palmar creases Shallow palm line Shallow palmar creases human_phenotype HP:0006184 Decreased palmar creases HP:0006184 Poorly defined or shallow palmar creases. PMID:19125433 Shallow palm line https://orcid.org/0000-0001-5208-3432 Shallow palmar creases https://orcid.org/0000-0002-5316-1399 UMLS:C1861350 Enlarged innermost hinge joint human_phenotype HP:0006185 Enlarged proximal interphalangeal joints HP:0006185 Enlarged innermost hinge joint https://orcid.org/0000-0001-5208-3432 true HP:0006186 HP:0009700 human_phenotype HP:0006187 obsolete Fusion of midphalangeal joints true HP:0006187 true HP:0006188 UMLS:C1866000 human_phenotype HP:0006189 Prominent interdigital folds HP:0006189 UMLS:C1861316 human_phenotype HP:0006190 Radially deviated wrists HP:0006190 Excessively deep creases of the palm. UMLS:C1857539 Deep palm line Deep palmar creases human_phenotype HP:0006191 Deep palmar crease HP:0006191 Excessively deep creases of the palm. PMID:19125433 Deep palm line https://orcid.org/0000-0001-5208-3432 Phalanges of the fingers becoming thinner toward the distal end. UMLS:C4025084 Tapered finger bone human_phenotype HP:0006192 Tapered phalanx of finger HP:0006192 Phalanges of the fingers becoming thinner toward the distal end. https://orcid.org/0000-0002-0736-9199 Tapered finger bone https://orcid.org/0000-0001-5208-3432 The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. UMLS:C4025083 Thimble-shaped middle bones of hand human_phenotype HP:0006193 Thimble-shaped middle phalanges of hand HP:0006193 The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. https://orcid.org/0000-0002-0736-9199 Thimble-shaped middle bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0006194 true HP:0006195 true HP:0006196 true HP:0006197 true HP:0006198 true HP:0006199 UMLS:C1862421 Widened outermost bone of limb human_phenotype HP:0006200 Widened distal phalanges HP:0006200 Widened outermost bone of limb https://orcid.org/0000-0001-5208-3432 UMLS:C1851811 Increased mobility of outermost hinge joint human_phenotype HP:0006201 Hypermobility of distal interphalangeal joints HP:0006201 Increased mobility of outermost hinge joint https://orcid.org/0000-0001-5208-3432 UMLS:C4025082 human_phenotype HP:0006202 Osteolysis of scaphoids HP:0006202 UMLS:C1836772 Decreased range of movement range in hinge joints human_phenotype HP:0006203 Decreased movement range in interphalangeal joints HP:0006203 Decreased range of movement range in hinge joints https://orcid.org/0000-0001-5208-3432 true HP:0006204 Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. UMLS:C4025081 Irregular finger bones human_phenotype HP:0006205 Irregular phalanges HP:0006205 Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance. https://orcid.org/0000-0002-0736-9199 Irregular finger bones https://orcid.org/0000-0001-6908-9849 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. UMLS:C4025080 human_phenotype HP:0006206 This anomaly is characteristic for brachydactyly type C. Hypersegmentation of proximal phalanx of second finger HP:0006206 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 UMLS:C1844519 human_phenotype HP:0006207 Partial fusion of carpals HP:0006207 Metaphyseal cupping affecting the proximal phalanges. UMLS:C1834980 human_phenotype HP:0006208 Metaphyseal cupping of proximal phalanges HP:0006208 Metaphyseal cupping affecting the proximal phalanges. https://orcid.org/0000-0002-0736-9199 UMLS:C1867928 Partial-complete absence of 5th digital bone human_phenotype HP:0006209 Partial-complete absence of 5th phalanges HP:0006209 Partial-complete absence of 5th digital bone https://orcid.org/0000-0001-5208-3432 UMLS:C1867927 human_phenotype HP:0006210 Postaxial oligodactyly HP:0006210 true HP:0006211 true HP:0006212 Thin proximal phalanges with broad epiphyses UMLS:C1862156 UMLS:C4025079 Thin innermost bone with broad end part of the hand bone human_phenotype HP:0006213 removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal)) Thin proximal phalanges with broad epiphyses of the hand HP:0006213 Thin innermost bone with broad end part of the hand bone https://orcid.org/0000-0001-5208-3432 true HP:0006214 true HP:0006215 Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. HP:0006245 UMLS:C1850336 Fifth finger single interphalangeal crease human_phenotype HP:0006216 Single interphalangeal crease of fifth finger HP:0006216 Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. https://orcid.org/0000-0002-0736-9199 UMLS:C1857288 Limited mobility of innermost hinge joint human_phenotype HP:0006217 Limited mobility of proximal interphalangeal joint HP:0006217 Limited mobility of innermost hinge joint https://orcid.org/0000-0001-5208-3432 true HP:0006218 true HP:0006219 true HP:0006220 true HP:0006221 true HP:0006222 true HP:0006223 A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). UMLS:C4025078 human_phenotype HP:0006224 Tapering pointed ends of distal finger phalanges HP:0006224 A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). PMID:10662807 https://orcid.org/0000-0002-0736-9199 true HP:0006225 SNOMEDCT_US:37895003 UMLS:C0409956 human_phenotype HP:0006226 Osteoarthritis of the first carpometacarpal joint HP:0006226 true HP:0006227 UMLS:C1860179 human_phenotype HP:0006228 Valgus hand deformity HP:0006228 true HP:0006229 UMLS:C3805861 human_phenotype HP:0006230 Unilateral oligodactyly HP:0006230 true HP:0006231 UMLS:C1969288 human_phenotype HP:0006232 Expanded metacarpals with widened medullary cavities HP:0006232 SNOMEDCT_US:239869009 UMLS:C0409957 human_phenotype HP:0006233 Osteoarthritis of the distal interphalangeal joint HP:0006233 An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. 2008-04-17T02:39:00Z HP:0001858 UMLS:C1833735 Tarsal bone osteolysis Tarsal osteolysis human_phenotype HP:0006234 Osteolysis involving tarsal bones HP:0006234 An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. https://orcid.org/0009-0006-4530-3154 true HP:0006235 Decreased width of the metacarpal bones (that is, reduced diameter). UMLS:C4025077 Slender long bones of hand human_phenotype HP:0006236 Slender metacarpals HP:0006236 Decreased width of the metacarpal bones (that is, reduced diameter). https://orcid.org/0000-0002-0736-9199 Slender long bones of hand https://orcid.org/0000-0001-5208-3432 UMLS:C1859115 Prominent hinge joints human_phenotype HP:0006237 Prominent interphalangeal joints HP:0006237 Prominent hinge joints https://orcid.org/0000-0001-5208-3432 true HP:0006238 Abnormal shortening of all middle phalanges of toes. UMLS:C4021605 Brachymesophalangy of feet Shortening of all the middle bones of the toes human_phenotype HP:0006239 Shortening of all middle phalanges of the toes HP:0006239 Abnormal shortening of all middle phalanges of toes. https://orcid.org/0000-0002-0736-9199 Shortening of all the middle bones of the toes https://orcid.org/0000-0001-5208-3432 true HP:0006240 true HP:0006241 true HP:0006242 UMLS:C2673396 human_phenotype HP:0006243 Phalangeal dislocation HP:0006243 true HP:0006244 true HP:0006245 true HP:0006246 UMLS:C1859701 Enlarged hinge joints human_phenotype HP:0006247 Enlarged interphalangeal joints HP:0006247 Enlarged hinge joints https://orcid.org/0000-0001-5208-3432 An abnormal limitation of the mobility of the wrist. UMLS:C1840088 Limited movement of the wrist Limited wrist movement human_phenotype HP:0006248 Limited wrist movement HP:0006248 An abnormal limitation of the mobility of the wrist. https://orcid.org/0000-0002-0736-9199 Limited movement of the wrist Limited wrist movement true HP:0006249 true HP:0006250 UMLS:C1862481 human_phenotype HP:0006251 Limited wrist extension HP:0006251 UMLS:C1850158 human_phenotype HP:0006252 Interphalangeal joint erosions HP:0006252 UMLS:C1860841 Swelling of innermost hinge joints human_phenotype HP:0006253 Swelling of proximal interphalangeal joints HP:0006253 Swelling of innermost hinge joints https://orcid.org/0000-0001-5208-3432 The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. 2008-03-28T09:17:00Z UMLS:C0235971 UMLS:C0476489 Elevated alpha-fetoprotein concentration Elevated alpha-fetoprotein level Elevated alpha-fetoprotein level in blood Elevated circulating alpha-fetoprotein concentration Increased alpha-fetoprotein concentration Increased alpha-fetoprotein level Increased alpha-fetoprotein level in blood Increased levels of alpha fetoprotein Increased serum alpha-fetoprotein Serum alpha-fetoprotein increased human_phenotype Alpha fetoprotein abnormal HP:0006254 An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. Elevated circulating alpha-fetoprotein concentration HP:0006254 true HP:0006255 2008-03-28T10:14:00Z UMLS:C4025076 Abnormality of hand joint mobility human_phenotype HP:0006256 Abnormality of hand joint mobility HP:0006256 Abnormality of hand joint mobility 2008-03-28T02:29:00Z HP:0006153 UMLS:C4025075 Abnormal wrist bone maturation human_phenotype HP:0006257 Abnormality of carpal bone ossification HP:0006257 Abnormal wrist bone maturation https://orcid.org/0000-0001-5208-3432 true HP:0006258 true HP:0006259 true HP:0006260 2008-03-28T02:55:00Z HP:0004266 UMLS:C4021604 Abnormality of phalangeal joints of the hand Abnormality of the small joints of the hand human_phenotype HP:0006261 Abnormal phalangeal joint morphology of the hand HP:0006261 Abnormality of the small joints of the hand A small/hypoplastic or absent/aplastic 5th finger. 2008-03-28T02:59:00Z UMLS:C4025074 Absent/small little finger Absent/small pinkie finger Absent/small pinky finger Absent/underdeveloped little finger Absent/underdeveloped pinkie finger Absent/underdeveloped pinky finger human_phenotype HP:0006262 Aplasia/Hypoplasia of the 5th finger HP:0006262 A small/hypoplastic or absent/aplastic 5th finger. https://orcid.org/0009-0006-4530-3154 Absent/small little finger https://orcid.org/0000-0001-5208-3432 Absent/small pinkie finger https://orcid.org/0000-0001-5208-3432 Absent/small pinky finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped little finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pinkie finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pinky finger https://orcid.org/0000-0001-5208-3432 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. 2008-03-28T03:04:00Z UMLS:C4025073 Abnormality of the end part of the index finger bone human_phenotype HP:0006263 Abnormality of the epiphyses of the 2nd finger HP:0006263 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the index finger bone https://orcid.org/0000-0001-5208-3432 A small/hypoplastic or absent/aplastic 2nd finger. 2008-03-28T03:06:00Z UMLS:C4025072 Absent/small index finger Absent/underdeveloped index finger human_phenotype HP:0006264 Aplasia/Hypoplasia of the 2nd finger HP:0006264 A small/hypoplastic or absent/aplastic 2nd finger. https://orcid.org/0000-0002-0736-9199 Absent/small index finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped index finger https://orcid.org/0000-0001-5208-3432 Small/hypoplastic or absent/aplastic fingers. 2008-03-28T03:09:00Z UMLS:C4025071 Absent/small fingers Absent/underdeveloped fingers human_phenotype HP:0006265 Aplasia/Hypoplasia of fingers HP:0006265 Small/hypoplastic or absent/aplastic fingers. https://orcid.org/0000-0002-0736-9199 Absent/small fingers https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped fingers https://orcid.org/0000-0001-5208-3432 Reduced size of the placenta. SNOMEDCT_US:289264006 UMLS:C0566694 Small placenta human_phenotype HP:0006266 Small placenta HP:0006266 Reduced size of the placenta. https://orcid.org/0000-0002-0736-9199 Small placenta Increased size of the placenta. SNOMEDCT_US:289263000 UMLS:C0566693 Large placenta Placental enlargement human_phenotype HP:0006267 Large placenta HP:0006267 Increased size of the placenta. https://orcid.org/0000-0002-0736-9199 Large placenta Intermittently increased size of the spleen. UMLS:C1835882 human_phenotype HP:0006268 Fluctuating splenomegaly HP:0006268 Intermittently increased size of the spleen. https://orcid.org/0000-0002-0736-9199 true HP:0006269 Underdevelopment of the spleen. UMLS:C1970617 Underdeveloped spleen human_phenotype HP:0006270 Hypoplastic spleen HP:0006270 Underdevelopment of the spleen. https://orcid.org/0000-0002-0736-9199 Underdeveloped spleen https://orcid.org/0000-0001-6908-9849 true HP:0006271 true HP:0006272 The presence of lymphangiectasis in the pancreas. UMLS:C1856162 human_phenotype HP:0006273 Pancreatic lymphangiectasis HP:0006273 The presence of lymphangiectasis in the pancreas. https://orcid.org/0000-0002-0736-9199 Reduced number of beta cells in the pancreatic islets of Langerhans. UMLS:C1856904 human_phenotype HP:0006274 The beta cells are responsible for producing insulin and amylin. Reduced pancreatic beta cells HP:0006274 Reduced number of beta cells in the pancreatic islets of Langerhans. https://orcid.org/0000-0002-0736-9199 true HP:0006275 UMLS:C1857945 human_phenotype HP:0006276 Hyperechogenic pancreas HP:0006276 Hyperplasia of the pancreas. UMLS:C1851733 human_phenotype HP:0006277 Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. Pancreatic hyperplasia HP:0006277 Hyperplasia of the pancreas. https://orcid.org/0000-0002-0736-9199 The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. SNOMEDCT_US:264304000 UMLS:C0994638 Abnormal pancreas location human_phenotype HP:0006278 Ectopic pancreatic tissue HP:0006278 The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut. https://orcid.org/0000-0002-0736-9199 Abnormal pancreas location https://orcid.org/0000-0001-5208-3432 UMLS:C1969875 human_phenotype HP:0006279 Beta-cell dysfunction HP:0006279 A chronic form of pancreatitis. SNOMEDCT_US:233870001 SNOMEDCT_US:234689009 SNOMEDCT_US:235494005 UMLS:C0149521 Chronic pancreas inflammation human_phenotype HP:0006280 Chronic pancreatitis HP:0006280 A chronic form of pancreatitis. https://orcid.org/0000-0002-0736-9199 Chronic pancreas inflammation https://orcid.org/0000-0001-5208-3432 true HP:0006281 A generalized form of developmental hypoplasia of the dental enamel. UMLS:C4025070 UMLS:C4280462 Generalised hypoplasia of dental enamel Generalised hypoplasia of tooth enamel Generalized hypoplasia of tooth enamel human_phenotype Generalised dysplasia of tooth enamel Generalized dysplasia of tooth enamel HP:0006282 Generalized hypoplasia of dental enamel HP:0006282 A generalized form of developmental hypoplasia of the dental enamel. https://orcid.org/0000-0002-9338-3017 Generalised hypoplasia of dental enamel Generalised hypoplasia of tooth enamel Generalized hypoplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 Generalised dysplasia of tooth enamel Generalized dysplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 The presence of multiple embedded tooth germs which have failed to erupt. UMLS:C4025069 Failure of eruption of multiple teeth Multiple non-erupting teeth Multiple unerupted teeth human_phenotype HP:0006283 Multiple unerupted teeth HP:0006283 The presence of multiple embedded tooth germs which have failed to erupt. https://orcid.org/0000-0002-9338-3017 Failure of eruption of multiple teeth https://orcid.org/0000-0001-5889-4463 Multiple non-erupting teeth https://orcid.org/0000-0001-5889-4463 Multiple unerupted teeth true HP:0006284 A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. HP:0006359 SNOMEDCT_US:109487003 UMLS:C3665628 UMLS:C4280253 UMLS:C4280460 UMLS:C4280461 Decreased enamel mineralisation Hypomineralization of enamel Mottled tooth enamel Poorly mineralized tooth enamel Increased porosity of tooth enamel human_phenotype Fluorosis of tooth enamel White spot lesions of tooth enamel HP:0006285 Enamel hypomineralization can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. It may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypomineralization is a qualitative defect of enamel, in which the enamel can be rough and softer. Affected teeth may be sensitive. Enamel hypomineralization can be part of molar incisor hypomineralization (hypomineralisation of systemic origin of one to four permanent first molars, frequently associated with affected incisors) and of hypomineralized second primary molars (or deciduous molar hypomineralisation, which indicates idiopathic hypomineralization of one to four second deciduous molars). Enamel hypomineralization HP:0006285 A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. PMID:31468724 https://orcid.org/0000-0002-0736-9199 Mottled tooth enamel https://orcid.org/0000-0001-5889-4463 Poorly mineralized tooth enamel https://orcid.org/0000-0001-5889-4463 Increased porosity of tooth enamel https://orcid.org/0000-0001-5889-4463 Fluorosis of tooth enamel https://orcid.org/0000-0001-5889-4463 White spot lesions of tooth enamel https://orcid.org/0000-0001-5889-4463 UMLS:C1863008 Yellow-brown discoloration of the teeth Yellow-brown discolored teeth Yellow-brown discoloured teeth Yellow-brown tooth shade human_phenotype HP:0006286 Yellow-brown discoloration of the teeth HP:0006286 Yellow-brown discoloration of the teeth Yellow-brown discolored teeth https://orcid.org/0000-0001-5889-4463 Yellow-brown discoloured teeth Yellow-brown tooth shade https://orcid.org/0000-0001-5889-4463 true HP:0006287 Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. HP:0006317 SNOMEDCT_US:16000003 UMLS:C0266054 Advanced dental eruption Advanced tooth eruption Early dental eruption Early eruption of teeth Eruption, advanced Premature dental eruption Premature eruption of teeth Premature tooth eruption human_phenotype HP:0006288 There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. Advanced eruption of teeth HP:0006288 Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. PMID:19125428 https://orcid.org/0000-0002-9338-3017 Advanced dental eruption https://orcid.org/0000-0001-5889-4463 Early dental eruption https://orcid.org/0000-0001-5889-4463 Early eruption of teeth https://orcid.org/0000-0001-5889-4463 Premature dental eruption https://orcid.org/0000-0001-5889-4463 Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. HP:0006320 UMLS:C1855000 UMLS:C4020819 Absent central incisor Failure of development of central incisor human_phenotype Absent central incisors Missing central incisors HP:0006289 Agenesis of central incisor HP:0006289 Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. https://orcid.org/0000-0002-9338-3017 Absent central incisor Failure of development of central incisor https://orcid.org/0000-0001-5889-4463 Absent central incisors Missing central incisors The presence of discolored lateral incisors. Abnormality of color of front teeth Abnormality of color of lateral incisor Abnormality of colour of front teeth Abnormality of colour of lateral incisor Abnormality of shade of lateral incisor Discolored front teeth Discoloured front teeth UMLS:C1866510 UMLS:C4280459 Discoloured lateral incisors human_phenotype HP:0006290 Discolored lateral incisors HP:0006290 The presence of discolored lateral incisors. https://orcid.org/0000-0002-9338-3017 Abnormality of color of front teeth https://orcid.org/0000-0001-5889-4463 Abnormality of color of lateral incisor https://orcid.org/0000-0001-5889-4463 Abnormality of colour of front teeth Abnormality of colour of lateral incisor Abnormality of shade of lateral incisor https://orcid.org/0000-0001-5889-4463 Discolored front teeth https://orcid.org/0000-0001-5889-4463 Discoloured front teeth Discoloured lateral incisors UMLS:C1863009 Severe delay of eruption of adult teeth Severe delay of eruption of permanent teeth Very late eruption of adult teeth Very late eruption of permanent teeth human_phenotype HP:0006291 Marked delay in eruption of permanent teeth HP:0006291 Severe delay of eruption of adult teeth https://orcid.org/0000-0001-5889-4463 Severe delay of eruption of permanent teeth https://orcid.org/0000-0001-5889-4463 Very late eruption of adult teeth https://orcid.org/0000-0001-5889-4463 Very late eruption of permanent teeth https://orcid.org/0000-0001-5889-4463 An abnormality of tooth eruption. SNOMEDCT_US:1086101000119107 SNOMEDCT_US:234949000 UMLS:C0012767 UMLS:C1859363 UMLS:C3874458 Abnormal dental eruption Abnormality of tooth eruption Anomaly of dental eruption Anomaly of tooth eruption Disorder of dental eruption Disorder of tooth eruption human_phenotype Disturbance of dental eruption Disturbance of tooth eruption HP:0006292 The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. Abnormality of dental eruption HP:0006292 An abnormality of tooth eruption. https://orcid.org/0000-0002-9338-3017 Abnormality of tooth eruption https://orcid.org/0000-0001-5889-4463 Anomaly of dental eruption https://orcid.org/0000-0001-5889-4463 Anomaly of tooth eruption https://orcid.org/0000-0001-5889-4463 Disorder of dental eruption https://orcid.org/0000-0001-5889-4463 Disorder of tooth eruption https://orcid.org/0000-0001-5889-4463 Disturbance of dental eruption https://orcid.org/0000-0001-5889-4463 Disturbance of tooth eruption https://orcid.org/0000-0001-5889-4463 Agenesis of upper secondary incisor or of upper central primary incisor. UMLS:C4025068 UMLS:C4280458 Failure of development of maxillary central incisor human_phenotype Absence of maxillary central incisor Missing maxillary central incisor Missing upper central incisor HP:0006293 Agenesis of maxillary central incisor HP:0006293 Agenesis of upper secondary incisor or of upper central primary incisor. https://orcid.org/0000-0002-9338-3017 Failure of development of maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of maxillary central incisor https://orcid.org/0000-0001-5889-4463 Missing maxillary central incisor https://orcid.org/0000-0001-5889-4463 Missing upper central incisor https://orcid.org/0000-0001-5889-4463 true HP:0006294 true HP:0006295 true HP:0006296 Developmental hypoplasia of the dental enamel. HP:0000671 HP:0001565 HP:0003770 Defective enamel matrix Thin dental enamel Thin tooth enamel SNOMEDCT_US:26597004 SNOMEDCT_US:699382004 SNOMEDCT_US:699421005 UMLS:C0011351 UMLS:C1851854 UMLS:C4280456 UMLS:C4280457 Dental enamel hypoplasia Enamel hypotrophy Enamel, underdeveloped Hypoplasia of dental enamel Hypoplasia of tooth enamel Underdeveloped teeth enamel human_phenotype Dysplasia of tooth enamel Enamel dysplasia HP:0006297 Enamel hypoplasia can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Enamel hypoplasia may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. Enamel hypoplasia regroups different clinical aspects: localized hypoplasia, generalized hypoplasia, enamel pits, enamel striae, and grooves defects. The term should be used to describe a quantitative defect of enamel. Enamel hypotrophy cannot be used as hypotrophy indicates loss of cells, whereas enamel is an acellular structure and thus not a tissue. Enamel hypoplasia HP:0006297 Developmental hypoplasia of the dental enamel. PMID:18499550 PMID:31468724 https://orcid.org/0000-0002-9338-3017 Defective enamel matrix https://orcid.org/0000-0001-5889-4463 Thin dental enamel Thin tooth enamel https://orcid.org/0000-0001-5889-4463 Hypoplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 Underdeveloped teeth enamel https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Dysplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 Prolonged bleeding post dental extraction sufficient to require medical intervention. UMLS:C1969572 Prolonged bleeding after dental extraction human_phenotype HP:0006298 Prolonged bleeding after dental extraction HP:0006298 Prolonged bleeding post dental extraction sufficient to require medical intervention. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-7744-1790 Prolonged bleeding after dental extraction true HP:0006299 true HP:0006300 true HP:0006301 Dagger-shaped calcifications in the dental pulp. UMLS:C4025067 Dagger shaped pulp denticles Dagger shaped pulp stones human_phenotype HP:0006302 Dagger-shaped pulp calcifications HP:0006302 Dagger-shaped calcifications in the dental pulp. https://orcid.org/0000-0002-9338-3017 Dagger shaped pulp denticles https://orcid.org/0000-0001-5889-4463 Dagger shaped pulp stones https://orcid.org/0000-0001-5889-4463 true HP:0006303 SNOMEDCT_US:196409003 UMLS:C0399545 Anterior diastema of teeth Gap between front teeth Widely spaced front teeth Diastema between front teeth Diastema between incisors human_phenotype HP:0006304 Widely-spaced incisors HP:0006304 Anterior diastema of teeth https://orcid.org/0000-0001-5889-4463 Gap between front teeth https://orcid.org/0000-0001-5889-4463 Widely spaced front teeth https://orcid.org/0000-0001-5889-4463 Diastema between front teeth https://orcid.org/0000-0001-5889-4463 Diastema between incisors https://orcid.org/0000-0001-5889-4463 true HP:0006305 true HP:0006306 true HP:0006307 UMLS:C1855642 UMLS:C4280454 UMLS:C4280455 Atrophy of alveolar margins Atrophy of alveolar processes of jaw Resorption of alveolar margins Resorption of alveolar processes of jaw Resorption of alveolar ridges Shrinking of alveolar ridges Shrinking of gum ridges human_phenotype Alveolar bone loss Flattening of alveolar margin Flattening of alveolar processes of jaw Flattening of alveolar ridges Flattening of gum ridges HP:0006308 Atrophy of alveolar ridges HP:0006308 Atrophy of alveolar margins https://orcid.org/0000-0001-5889-4463 Atrophy of alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 Resorption of alveolar margins https://orcid.org/0000-0001-5889-4463 Resorption of alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 Resorption of alveolar ridges https://orcid.org/0000-0001-5889-4463 Shrinking of alveolar ridges https://orcid.org/0000-0001-5889-4463 Shrinking of gum ridges https://orcid.org/0000-0001-5889-4463 Flattening of alveolar margin https://orcid.org/0000-0001-5889-4463 Flattening of alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 Flattening of alveolar ridges https://orcid.org/0000-0001-5889-4463 Flattening of gum ridges https://orcid.org/0000-0001-5889-4463 true HP:0006309 true HP:0006310 A generalized form of microdontia. Decreased size of all teeth Hypotrophy of all teeth Tooth mass insufficiency UMLS:C4025065 Decreased tooth mass Decreased width of all teeth Generalised microdontia human_phenotype HP:0006311 Generalized microdontia HP:0006311 A generalized form of microdontia. https://orcid.org/0000-0002-9338-3017 Decreased size of all teeth https://orcid.org/0000-0001-5889-4463 Hypotrophy of all teeth https://orcid.org/0000-0001-5889-4463 Tooth mass insufficiency https://orcid.org/0000-0001-5889-4463 Decreased tooth mass https://orcid.org/0000-0001-5889-4463 Decreased width of all teeth https://orcid.org/0000-0001-5889-4463 Generalised microdontia true HP:0006312 Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. UMLS:C4021603 Generalised spacing of primary teeth Generalized spacing of primary teeth Wide gaps between baby teeth Wide gaps between primary teeth Widely spaced baby teeth Widely spaced deciduous teeth Widely spaced milk teeth human_phenotype HP:0006313 Widely spaced primary teeth HP:0006313 Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. https://orcid.org/0000-0002-9338-3017 Generalised spacing of primary teeth Generalized spacing of primary teeth https://orcid.org/0000-0001-5889-4463 Wide gaps between baby teeth https://orcid.org/0000-0001-5889-4463 Wide gaps between primary teeth https://orcid.org/0000-0001-5889-4463 Widely spaced baby teeth https://orcid.org/0000-0001-5889-4463 Widely spaced milk teeth https://orcid.org/0000-0001-5889-4463 true HP:0006314 A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. HP:0001568 HP:0001573 HP:0006356 SNOMEDCT_US:707609006 UMLS:C1840235 Only one upper front tooth Single central incisor Single central upper incisor Single maxillary central incisor Single median incisor Single median maxillary incisor Single midline maxillary incisor Single midline upper front tooth Solitary median maxillary central incisor Solitary midline maxillary central incisor Solitary median maxillary central incisor syndrome human_phenotype HP:0006315 The tooth differs from a normal central incisor in the symmetric formation of the crown. The tooth is present in both deciduous and permanent dentition. Solitary/single median maxillary central incisor syndrome indicates the presence of a single median maxillary central incisor together with other midline defects of development. A single maxillary central incisor not positioned in the midline indicates agenesis of the contralateral central incisor and can be differentiated furthermore by the morphology of the crown. A diagnosis of a solitary median maxillary central incisor typically requires X-ray examinations. Solitary median maxillary central incisor HP:0006315 A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. PMID:19125428 Only one upper front tooth https://orcid.org/0000-0002-6548-5200 Single midline maxillary incisor https://orcid.org/0000-0001-5889-4463 Single midline upper front tooth https://orcid.org/0000-0001-5889-4463 Solitary median maxillary central incisor https://orcid.org/0000-0001-5889-4463 Solitary midline maxillary central incisor https://orcid.org/0000-0001-5889-4463 Solitary median maxillary central incisor syndrome https://orcid.org/0000-0001-5889-4463 Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. HP:0009081 UMLS:C1845878 Irregular dental spacing Irregularly spaced teeth Variability of dental spacing Variability of spacing between teeth human_phenotype HP:0006316 Irregularly spaced teeth HP:0006316 Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. https://orcid.org/0000-0002-9338-3017 Irregular dental spacing https://orcid.org/0000-0001-5889-4463 Irregularly spaced teeth Variability of dental spacing https://orcid.org/0000-0001-5889-4463 Variability of spacing between teeth https://orcid.org/0000-0001-5889-4463 true HP:0006317 true HP:0006318 true HP:0006319 true HP:0006320 UMLS:C1848904 Failure of eruption of multiple adult teeth Failure of eruption of multiple permanent teeth Multiple non-erupting adult teeth Multiple non-erupting permanent teeth Multiple unerupted adult teeth Multiple unerupted permanent teeth human_phenotype HP:0006321 Multiple non-erupting secondary teeth HP:0006321 Failure of eruption of multiple adult teeth https://orcid.org/0000-0001-5889-4463 Failure of eruption of multiple permanent teeth https://orcid.org/0000-0001-5889-4463 Multiple non-erupting adult teeth https://orcid.org/0000-0001-5889-4463 Multiple non-erupting permanent teeth https://orcid.org/0000-0001-5889-4463 Multiple unerupted adult teeth https://orcid.org/0000-0001-5889-4463 Multiple unerupted permanent teeth https://orcid.org/0000-0001-5889-4463 true HP:0006322 Loss of the primary (also known as deciduous) teeth before the usual age. HP:0006319 HP:0006351 SNOMEDCT_US:122483006 SNOMEDCT_US:39034005 UMLS:C0266052 Early loss of baby teeth Early loss of deciduous teeth Early loss of primary teeth Premature deciduous tooth loss Premature loss of baby teeth Premature loss of deciduous teeth Premature exfoliation of deciduous teeth Premature exfoliation of primary teeth human_phenotype HP:0006323 The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. Premature loss of primary teeth HP:0006323 Loss of the primary (also known as deciduous) teeth before the usual age. https://orcid.org/0009-0006-4530-3154 Early loss of baby teeth https://orcid.org/0000-0001-5889-4463 Early loss of deciduous teeth https://orcid.org/0000-0001-5889-4463 Early loss of primary teeth https://orcid.org/0000-0001-5889-4463 Premature loss of baby teeth https://orcid.org/0000-0001-5889-4463 Premature exfoliation of deciduous teeth https://orcid.org/0000-0001-5889-4463 Premature exfoliation of primary teeth https://orcid.org/0000-0001-5889-4463 true HP:0006324 true HP:0006325 UMLS:C4025064 Failure of dental eruption due to mucopolysaccharidoses Failure of tooth eruption due to mucopolysaccharidoses Impacted teeth due to mucopolysaccharidoses Unerupted dentition due to mucopolysaccharidoses Unerupted teeth due to mucopolysaccharidoses human_phenotype HP:0006326 Buried teeth encased in mucopolysaccharide HP:0006326 Failure of dental eruption due to mucopolysaccharidoses https://orcid.org/0000-0001-5889-4463 Failure of tooth eruption due to mucopolysaccharidoses https://orcid.org/0000-0001-5889-4463 Impacted teeth due to mucopolysaccharidoses https://orcid.org/0000-0001-5889-4463 Unerupted dentition due to mucopolysaccharidoses https://orcid.org/0000-0001-5889-4463 Unerupted teeth due to mucopolysaccharidoses https://orcid.org/0000-0001-5889-4463 true HP:0006327 true HP:0006328 Underdevelopment of the alveolar process (also known as alveolar bone). HP:0006312 SNOMEDCT_US:708494003 UMLS:C1848905 UMLS:C3872671 UMLS:C4280451 UMLS:C4280452 UMLS:C4280453 Decreased size of alveolar process of jaw Decreased size of alveolar ridge Hypoplasia of alveolar ridge Hypoplastic alveolar bone Small alveolar process of jaw Small alveolar ridge Underdevelopment of alveolar process of jaw Underdevelopment of alveolar ridge human_phenotype Deficiency of alveolar process of jaw Deficiency of alveolar ridge Hypotrophic alveolar process of jaw Hypotrophic alveolar ridge HP:0006329 The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. Alveolar process hypoplasia HP:0006329 Underdevelopment of the alveolar process (also known as alveolar bone). https://orcid.org/0000-0002-0736-9199 Decreased size of alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Decreased size of alveolar ridge https://orcid.org/0000-0001-5889-4463 Small alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Small alveolar ridge https://orcid.org/0000-0001-5889-4463 Underdevelopment of alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Underdevelopment of alveolar ridge https://orcid.org/0000-0001-5889-4463 Deficiency of alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Deficiency of alveolar ridge https://orcid.org/0000-0001-5889-4463 Hypotrophic alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Hypotrophic alveolar ridge https://orcid.org/0000-0001-5889-4463 UMLS:C4025063 Rotated upper central incisors Rotated upper front teeth Turned upper front teeth Twisted upper front teeth human_phenotype HP:0006330 Rotated maxillary central incisors HP:0006330 Rotated upper central incisors https://orcid.org/0000-0001-5889-4463 Rotated upper front teeth https://orcid.org/0000-0001-5889-4463 Turned upper front teeth https://orcid.org/0000-0001-5889-4463 Twisted upper front teeth https://orcid.org/0000-0001-5889-4463 true HP:0006331 The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. UMLS:C4025062 Extra upper front tooth human_phenotype HP:0006332 Supernumerary maxillary incisor HP:0006332 The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. https://orcid.org/0000-0002-9338-3017 Extra upper front tooth https://orcid.org/0000-0001-5889-4463 A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. UMLS:C4021602 Crowded upper front teeth Crowded upper incisors Overlapped maxillary incisors Overlapped upper front teeth human_phenotype HP:0006333 Crowded maxillary incisors HP:0006333 A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor. https://orcid.org/0000-0002-9338-3017 Crowded upper front teeth https://orcid.org/0000-0001-5889-4463 Crowded upper incisors Overlapped maxillary incisors https://orcid.org/0000-0001-5889-4463 Overlapped upper front teeth https://orcid.org/0000-0001-5889-4463 HP:0006347 human_phenotype HP:0006334 obsolete Hypoplasia of the primary teeth true HP:0006334 Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. HP:0003772 HP:0006299 HP:0006305 HP:0006341 HP:0006354 SNOMEDCT_US:57650002 UMLS:C0266050 Deciduous teeth retention Delayed loss of baby teeth Delayed loss of deciduous teeth Delayed loss of primary teeth Failure to exfoliate deciduous teeth Failure to exfoliate primary teeth Failure to lose baby teeth Persistence of deciduous teeth Persistent deciduous dentition Persistent primary dentition Persistent primary teeth Retained baby teeth Retained deciduous teeth Retained primary teeth human_phenotype HP:0006335 The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. Persistence of primary teeth HP:0006335 Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. https://orcid.org/0000-0002-9338-3017 Delayed loss of baby teeth https://orcid.org/0000-0001-5889-4463 Delayed loss of deciduous teeth https://orcid.org/0000-0001-5889-4463 Failure to exfoliate deciduous teeth https://orcid.org/0000-0001-5889-4463 Failure to exfoliate primary teeth https://orcid.org/0000-0001-5889-4463 Failure to lose baby teeth https://orcid.org/0000-0001-5889-4463 Persistent deciduous dentition https://orcid.org/0000-0001-5889-4463 Retained baby teeth https://orcid.org/0000-0001-5889-4463 Retained primary teeth https://orcid.org/0000-0001-5889-4463 Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. Underdeveloped tooth roots UMLS:C2678330 Decreased length of dental roots Decreased length of tooth roots Dental root hypoplasia Dental root hypotrophy Rhizomicry Root dwarfism Short dental roots Short tooth roots Underdeveloped dental roots human_phenotype HP:0006336 Short dental root HP:0006336 Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. PMID:31468724 https://orcid.org/0000-0002-0736-9199 Underdeveloped tooth roots https://orcid.org/0000-0001-5889-4463 Decreased length of dental roots https://orcid.org/0000-0001-5889-4463 Decreased length of tooth roots https://orcid.org/0000-0001-5889-4463 Short dental roots Short tooth roots https://orcid.org/0000-0001-5889-4463 Underdeveloped dental roots Premature tooth eruption of the permanent dentition. UMLS:C4021601 Early eruption of adult teeth Early eruption of permanent teeth Precocious eruption of secondary dentition Precocious eruption of secondary teeth Premature eruption of adult teeth human_phenotype HP:0006337 Premature eruption of permanent teeth HP:0006337 Premature tooth eruption of the permanent dentition. https://orcid.org/0000-0002-9338-3017 Early eruption of adult teeth https://orcid.org/0000-0001-5889-4463 Early eruption of permanent teeth https://orcid.org/0000-0001-5889-4463 Premature eruption of adult teeth https://orcid.org/0000-0001-5889-4463 An abnormality of the morphology of secondary premolar tooth. UMLS:C4025061 Malformation of lower premolar Malformation of mandibular bicuspid human_phenotype HP:0006338 Malformation of mandibular premolar HP:0006338 An abnormality of the morphology of secondary premolar tooth. https://orcid.org/0000-0002-9338-3017 Malformation of lower premolar https://orcid.org/0000-0001-5889-4463 Malformation of mandibular bicuspid https://orcid.org/0000-0001-5889-4463 An abnormal conical morphology of the primary or permanent mandibular incisors. UMLS:C4020818 UMLS:C4280449 UMLS:C4280450 Cone shaped lower front tooth Conoid mandibular incisor Lower front shark tooth human_phenotype Peg shaped lower front tooth Peg shaped mandibular incisor Pointed mandibular incisor Pointed mandibular incisors HP:0006339 Conical mandibular incisor HP:0006339 An abnormal conical morphology of the primary or permanent mandibular incisors. https://orcid.org/0000-0002-9338-3017 Cone shaped lower front tooth https://orcid.org/0000-0001-5889-4463 Conoid mandibular incisor https://orcid.org/0000-0001-5889-4463 Lower front shark tooth https://orcid.org/0000-0001-5889-4463 Peg shaped lower front tooth https://orcid.org/0000-0001-5889-4463 Peg shaped mandibular incisor https://orcid.org/0000-0001-5889-4463 Pointed mandibular incisor https://orcid.org/0000-0001-5889-4463 true HP:0006340 true HP:0006341 A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter Peg laterals UMLS:C4025060 Peg shaped upper lateral incisors human_phenotype Cone shaped upper lateral incisors Conical maxillary lateral incisors Conoid upper lateral incisors Pointed upper lateral incisors HP:0006342 A peg shape appearance of a tooth occurs in lateral incisors only. A peg-shaped tooth is a microdont tooth and may occur isolated or associated with other dental anomalies, such as hypodontia and oligodontia; this should be assessed and coded separately. Peg-shaped maxillary lateral incisors HP:0006342 A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter PMID:31468724 https://orcid.org/0000-0002-9338-3017 Peg laterals https://orcid.org/0000-0001-5889-4463 Peg shaped upper lateral incisors https://orcid.org/0000-0001-5889-4463 Cone shaped upper lateral incisors https://orcid.org/0000-0001-5889-4463 Conical maxillary lateral incisors https://orcid.org/0000-0001-5889-4463 Conoid upper lateral incisors https://orcid.org/0000-0001-5889-4463 Pointed upper lateral incisors https://orcid.org/0000-0001-5889-4463 true HP:0006343 An abnormality of morphology of primary molar. UMLS:C4025059 Abnormality of deciduous molar morphology Abnormality of primary molar morphology Abnormality of shape of baby molar Abnormality of shape of primary molar human_phenotype HP:0006344 Abnormal primary molar morphology HP:0006344 An abnormality of morphology of primary molar. https://orcid.org/0000-0002-9338-3017 Abnormality of deciduous molar morphology https://orcid.org/0000-0001-5889-4463 Abnormality of shape of baby molar https://orcid.org/0000-0001-5889-4463 Abnormality of shape of primary molar https://orcid.org/0000-0001-5889-4463 true HP:0006345 An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. UMLS:C4025058 Screwdriver shaped front teeth Screwdriver-shaped incisors human_phenotype HP:0006346 Screwdriver-shaped incisors HP:0006346 An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. https://orcid.org/0000-0002-9338-3017 Screwdriver shaped front teeth https://orcid.org/0000-0001-5889-4463 Screwdriver-shaped incisors Decreased size of the primary teeth. HP:0006318 HP:0006334 Decreased size of primary tooth UMLS:C1855694 UMLS:C1856203 Decreased width of baby teeth Decreased width of deciduous teeth Decreased width of milk teeth Decreased width of primary tooth Microdontia of deciduous teeth Small deciduous teeth Underdevelopment of primary teeth human_phenotype HP:0006347 Microdontia of primary teeth HP:0006347 Decreased size of the primary teeth. https://orcid.org/0000-0002-9338-3017 Decreased size of primary tooth https://orcid.org/0000-0001-5889-4463 Decreased width of baby teeth https://orcid.org/0000-0001-5889-4463 Decreased width of deciduous teeth https://orcid.org/0000-0001-5889-4463 Decreased width of milk teeth https://orcid.org/0000-0001-5889-4463 Decreased width of primary tooth https://orcid.org/0000-0001-5889-4463 Microdontia of deciduous teeth https://orcid.org/0000-0001-5889-4463 true HP:0006348 A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. HP:0000681 HP:0006287 HP:0008498 SNOMEDCT_US:109444001 SNOMEDCT_US:234948008 UMLS:C0457756 UMLS:C1290511 Absence of adult teeth Absence of permanent teeth Absence of secondary dentition Absent permanent teeth Agenesis of permanent dentition Agenesis of secondary dentition Failure of development of permanent teeth Failure of development of secondary teeth Missing permanent teeth No permanent dentition human_phenotype HP:0006349 Agenesis of permanent teeth HP:0006349 A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. https://orcid.org/0000-0002-0736-9199 Absence of adult teeth https://orcid.org/0000-0001-5889-4463 Absence of permanent teeth Absence of secondary dentition https://orcid.org/0000-0001-5889-4463 Agenesis of permanent dentition https://orcid.org/0000-0001-5889-4463 Agenesis of secondary dentition https://orcid.org/0000-0001-5889-4463 Failure of development of permanent teeth https://orcid.org/0000-0001-5889-4463 Failure of development of secondary teeth https://orcid.org/0000-0001-5889-4463 Missing permanent teeth Mineralized substance filling the entire dental pulp space. UMLS:C4020817 UMLS:C4025057 UMLS:C4280448 Obliteration of the pulp chamber Pulp canal obliteration Reduced size of pulp chamber of tooth Small pulp chamber of tooth Narrowing of pulp chamber of tooth human_phenotype Crescent/chevron-shaped pulp chambers HP:0006350 The diagnosis pulp obliteration can be established using radiological studies. Gradual obliteration of the pulp is a physiologic process that occurs with aging. On radiographs the contours of the pulp disappear in part or totally, but histologically pulpal tissue remains present. Pulp obliteration HP:0006350 Mineralized substance filling the entire dental pulp space. PMID:162890 PMID:31468724 Pulp canal obliteration https://orcid.org/0000-0001-5889-4463 Reduced size of pulp chamber of tooth https://orcid.org/0000-0001-5889-4463 Small pulp chamber of tooth https://orcid.org/0000-0001-5889-4463 Narrowing of pulp chamber of tooth https://orcid.org/0000-0001-5889-4463 true HP:0006351 Lack of tooth eruption of the secondary dentition. HP:0006309 Unerupted adult dentition Unerupted adult teeth Unerupted permanent dentition Unerupted permanent teeth UMLS:C4025056 UMLS:C4280447 Failure of eruption of adult teeth human_phenotype HP:0006352 Failure of eruption of permanent teeth HP:0006352 Lack of tooth eruption of the secondary dentition. https://orcid.org/0000-0002-9338-3017 Unerupted adult dentition https://orcid.org/0000-0001-5889-4463 Unerupted adult teeth https://orcid.org/0000-0001-5889-4463 Unerupted permanent dentition https://orcid.org/0000-0001-5889-4463 Unerupted permanent teeth https://orcid.org/0000-0001-5889-4463 Failure of eruption of adult teeth https://orcid.org/0000-0001-5889-4463 Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. Underdevelopment of tooth bud Underdevelopment of tooth germ UMLS:C4025055 Decreased size of tooth bud Decreased size of tooth germ Hypotrophic tooth germ Small tooth bud Small tooth germ human_phenotype Hypoplastic tooth buds HP:0006353 Hypoplasia of the tooth germ HP:0006353 Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. https://orcid.org/0000-0002-9338-3017 Underdevelopment of tooth bud https://orcid.org/0000-0001-5889-4463 Underdevelopment of tooth germ https://orcid.org/0000-0001-5889-4463 Decreased size of tooth bud https://orcid.org/0000-0001-5889-4463 Decreased size of tooth germ https://orcid.org/0000-0001-5889-4463 Hypotrophic tooth germ https://orcid.org/0000-0001-5889-4463 Small tooth bud https://orcid.org/0000-0001-5889-4463 Small tooth germ https://orcid.org/0000-0001-5889-4463 true HP:0006354 Agenesis of lower secondary incisor or lower primary incisor. UMLS:C1840225 UMLS:C4025054 Failure of development of mandibular central incisor human_phenotype Absence of lower central incisor Absence of mandibular central incisor Missing lower central incisor Missing mandibular central incisor HP:0006355 Agenesis of mandibular central incisor HP:0006355 Agenesis of lower secondary incisor or lower primary incisor. https://orcid.org/0000-0002-9338-3017 Failure of development of mandibular central incisor https://orcid.org/0000-0001-5889-4463 Absence of lower central incisor https://orcid.org/0000-0001-5889-4463 Absence of mandibular central incisor https://orcid.org/0000-0001-5889-4463 Missing lower central incisor https://orcid.org/0000-0001-5889-4463 Missing mandibular central incisor https://orcid.org/0000-0001-5889-4463 true HP:0006356 Premature loss of the permanent teeth. UMLS:C1969738 Early loss of adult teeth Early loss of permanent teeth Early loss of secondary dentition Premature loss of adult teeth Premature loss of secondary teeth human_phenotype HP:0006357 Premature loss of permanent teeth HP:0006357 Premature loss of the permanent teeth. https://orcid.org/0000-0002-9338-3017 Early loss of adult teeth https://orcid.org/0000-0001-5889-4463 Early loss of permanent teeth https://orcid.org/0000-0001-5889-4463 Early loss of secondary dentition https://orcid.org/0000-0001-5889-4463 Premature loss of adult teeth https://orcid.org/0000-0001-5889-4463 A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. UMLS:C1833168 Shovel tooth Shovel-shaped upper front teeth human_phenotype HP:0006358 Shovel-shaped maxillary central incisors HP:0006358 A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces. PMID:2212205 PMID:31468724 Shovel-shaped upper front teeth https://orcid.org/0000-0001-5889-4463 true HP:0006359 true HP:0006360 UMLS:C1850658 Irregular thighbone end part human_phenotype HP:0006361 Irregular femoral epiphysis HP:0006361 Irregular thighbone end part https://orcid.org/0000-0001-5208-3432 UMLS:C1854948 human_phenotype HP:0006362 Varus deformity of humeral neck HP:0006362 true HP:0006363 true HP:0006364 true HP:0006365 UMLS:C1859524 human_phenotype HP:0006366 Adductor longus contractures HP:0006366 An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. UMLS:C1970497 Crumpled long bones human_phenotype HP:0006367 Crumpled long bones HP:0006367 An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. https://orcid.org/0000-0002-0736-9199 Crumpled long bones UMLS:C1849327 human_phenotype HP:0006368 Forearm reduction defects HP:0006368 An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. HP:0006458 UMLS:C1836870 Irregular patellar contour Irregular patellar margins human_phenotype HP:0006369 Irregular patellae HP:0006369 An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour. https://orcid.org/0000-0002-0736-9199 The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. UMLS:C4021600 Distal ulnar epiphyseal calcifications human_phenotype HP:0006370 Distal ulnar epiphyseal stippling HP:0006370 The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna. https://orcid.org/0000-0002-0736-9199 Increased width of the diaphysis of long bones. UMLS:C4025053 Broad shaft of long bone Wide shaft of long bone human_phenotype HP:0006371 Broad long bone diaphyses HP:0006371 Increased width of the diaphysis of long bones. https://orcid.org/0000-0002-0736-9199 Broad shaft of long bone https://orcid.org/0000-0001-5208-3432 Wide shaft of long bone https://orcid.org/0000-0001-5208-3432 true HP:0006372 true HP:0006373 true HP:0006374 The femur is shortened and displays flaring (widening) of the metaphyses. UMLS:C4025052 Dumbbell-shaped thighbone human_phenotype HP:0006375 Dumbbell-shaped femur HP:0006375 The femur is shortened and displays flaring (widening) of the metaphyses. https://orcid.org/0000-0002-0736-9199 Dumbbell-shaped thighbone https://orcid.org/0000-0001-5208-3432 UMLS:C1856922 human_phenotype HP:0006376 Limited elbow flexion HP:0006376 true HP:0006377 UMLS:C4025051 human_phenotype HP:0006378 Osteolysis of patellae HP:0006378 UMLS:C1856029 Proximal tibial hypopolasia human_phenotype HP:0006379 Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' Proximal tibial hypoplasia HP:0006379 A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. HP:0002978 Inability to straighten knee SNOMEDCT_US:202289003 UMLS:C0409355 Flexion contracture of knees Flexion contractures at both knees Flexion contractures of knees Flexion deformity of the knee Knee flexion contractures Knee flexion deformity human_phenotype HP:0006380 Knee flexion contracture HP:0006380 A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. PMID:31282072 https://orcid.org/0000-0002-0736-9199 Inability to straighten knee https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Flexion contractures at both knees https://orcid.org/0000-0002-5316-1399 Absent or nearly absent fibula. (Does not include aplastic) HP:0004986 UMLS:C1844706 Rudimentary to absent fibulae Small to absent calf bone Small to absent fibula human_phenotype HP:0006381 Rudimentary fibula HP:0006381 Small to absent calf bone https://orcid.org/0000-0001-5208-3432 true HP:0006382 Progressive bending or abnormal curvature of a long bone. UMLS:C1857137 human_phenotype HP:0006383 Progressive bowing of long bones HP:0006383 Progressive bending or abnormal curvature of a long bone. https://orcid.org/0000-0002-0736-9199 An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. HP:0006447 UMLS:C1857505 Club-shaped distal femora Club-shaped outermost end of thighbone human_phenotype HP:0006384 previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal)) Club-shaped distal femur HP:0006384 An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. https://orcid.org/0000-0002-0736-9199 Club-shaped outermost end of thighbone https://orcid.org/0000-0001-5208-3432 Shortening of the legs related to developmental hypoplasia of the bones of the leg. HP:0003054 SNOMEDCT_US:249786007 UMLS:C0426901 Short legs Short lower limbs human_phenotype HP:0006385 Short lower limbs HP:0006385 Shortening of the legs related to developmental hypoplasia of the bones of the leg. https://orcid.org/0000-0002-0736-9199 Short legs Short lower limbs Underdevelopment of the distal epiphysis of the radius. UMLS:C1969286 human_phenotype HP:0006386 Hypoplastic distal radial epiphyses HP:0006386 Underdevelopment of the distal epiphysis of the radius. https://orcid.org/0000-0002-0736-9199 Increased width of the distal part of the shaft (metaphysis) of the femur. UMLS:C1849309 Broad outermost wide portion of thighbone Wide distal metaphysis of femur human_phenotype HP:0006387 Wide distal femoral metaphysis HP:0006387 Increased width of the distal part of the shaft (metaphysis) of the femur. https://orcid.org/0000-0002-0736-9199 Broad outermost wide portion of thighbone https://orcid.org/0000-0001-5208-3432 true HP:0006388 Reduced ability to flex (bend) the knee joint. UMLS:C1839512 human_phenotype HP:0006389 Limited knee flexion HP:0006389 An abnormal anterior bending or curvature of the tibia. UMLS:C1861937 Anterior bowing of tibia Saber shin Saber tibia Sabre shin human_phenotype HP:0006390 Anterior tibial bowing HP:0006390 An abnormal anterior bending or curvature of the tibia. PMID:37026038 https://orcid.org/0000-0002-0736-9199 Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. UMLS:C1848769 human_phenotype HP:0006391 Overtubulated long bones HP:0006391 Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. https://orcid.org/0000-0002-0736-9199 An abnormal increase in the bone density of the long bones. UMLS:C1849307 Increased density of long bones human_phenotype HP:0006392 Increased density of long bones HP:0006392 An abnormal increase in the bone density of the long bones. https://orcid.org/0000-0002-0736-9199 Increased density of long bones true HP:0006393 A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). UMLS:C1861331 Limited pronation/supination of forearm human_phenotype HP:0006394 Limited pronation/supination of forearm HP:0006394 A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). https://orcid.org/0000-0002-0736-9199 Limited pronation/supination of forearm true HP:0006395 true HP:0006396 UMLS:C1860156 human_phenotype HP:0006397 Lateral displacement of patellae HP:0006397 An abnormal flattening of the distal epiphysis of femur. UMLS:C4021599 Flat end part of outermost thighbone Flattened distal femoral epiphyses human_phenotype HP:0006398 Flat distal femoral epiphysis HP:0006398 An abnormal flattening of the distal epiphysis of femur. https://orcid.org/0009-0006-4530-3154 Flat end part of outermost thighbone https://orcid.org/0000-0001-5208-3432 true HP:0006399 UMLS:C1859462 Absent knee end part human_phenotype HP:0006400 Absent knee epiphyses HP:0006400 Absent knee end part https://orcid.org/0000-0001-5208-3432 true HP:0006401 UMLS:C1840307 Short outer part of limbs human_phenotype HP:0006402 Distal shortening of limbs HP:0006402 Short outer part of limbs https://orcid.org/0000-0001-5208-3432 true HP:0006403 true HP:0006404 true HP:0006405 An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. UMLS:C1968611 Club-shaped innermost end of thighbone human_phenotype HP:0006406 previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal)) Club-shaped proximal femur HP:0006406 An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. https://orcid.org/0000-0002-0736-9199 Club-shaped innermost end of thighbone https://orcid.org/0000-0001-5208-3432 Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. UMLS:C4025050 Irregular outermost thighbone end part human_phenotype HP:0006407 Irregular distal femoral epiphysis HP:0006407 Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. https://orcid.org/0000-0002-0736-9199 Irregular outermost thighbone end part https://orcid.org/0000-0001-5208-3432 UMLS:C4025049 Tapering of outermost end of thighbone human_phenotype HP:0006408 Distal tapering femur HP:0006408 Tapering of outermost end of thighbone https://orcid.org/0000-0001-5208-3432 Progressive bending or abnormal curvature of the leg. UMLS:C1855191 human_phenotype HP:0006409 Progressive leg bowing HP:0006409 Progressive bending or abnormal curvature of the leg. https://orcid.org/0000-0002-0736-9199 true HP:0006410 true HP:0006411 true HP:0006412 UMLS:C2678328 Broad wide portion of shankbone Broad wide portion of shinbone human_phenotype HP:0006413 Broad tibial metaphyses HP:0006413 Broad wide portion of shankbone https://orcid.org/0000-0001-5208-3432 Broad wide portion of shinbone https://orcid.org/0000-0001-5208-3432 A bending or abnormal curvature of the distal portion of the tibia. UMLS:C4021598 Bowing of the distal tibia Tibial bowing at ankle human_phenotype HP:0006414 Distal tibial bowing HP:0006414 A bending or abnormal curvature of the distal portion of the tibia. https://orcid.org/0000-0002-0736-9199 Increased density of the compact bone of long bone. UMLS:C1849276 human_phenotype HP:0006415 Note that compact bone and cortical bone are synonymous. Cortically dense long tubular bones HP:0006415 Increased density of the compact bone of long bone. https://orcid.org/0000-0002-0736-9199 true HP:0006416 UMLS:C1864854 Broad femoral metaphyses Broad femoral metaphysis Broad wide portion of thigh bone human_phenotype HP:0006417 Wide femoral metaphysis HP:0006417 Broad femoral metaphyses Broad wide portion of thigh bone https://orcid.org/0000-0001-5208-3432 true HP:0006418 true HP:0006419 HP:0006433 human_phenotype HP:0006420 obsolete Asymmetric radial dysplasia true HP:0006420 true HP:0006421 true HP:0006422 UMLS:C1846160 human_phenotype HP:0006423 Peg-like central prominence of distal tibial metaphyses HP:0006423 Increased length of the radius. UMLS:C4025048 human_phenotype HP:0006424 Elongated radius HP:0006424 Increased length of the radius. https://orcid.org/0000-0002-0736-9199 true HP:0006425 UMLS:C1968943 human_phenotype HP:0006426 Rudimentary to absent tibiae HP:0006426 true HP:0006427 true HP:0006428 An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). HP:0003369 HP:0003372 HP:0008781 HP:0008782 HP:0008836 UMLS:C1849016 Broadening of femoral neck Wide femoral neck Wide neck of thigh bone Widened femoral necks human_phenotype HP:0006429 Broad femoral neck HP:0006429 An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). https://orcid.org/0000-0002-0736-9199 Wide neck of thigh bone https://orcid.org/0000-0001-5208-3432 true HP:0006430 An anomaly of the metaphysis of the proximal femur (close to the hip). UMLS:C4025047 Abnormal wide portion of innermost thighbone Proximal femoral metaphyseal abnormality human_phenotype HP:0006431 Abnormal proximal femoral metaphysis morphology HP:0006431 An anomaly of the metaphysis of the proximal femur (close to the hip). https://orcid.org/0000-0002-0736-9199 Abnormal wide portion of innermost thighbone https://orcid.org/0000-0001-5208-3432 UMLS:C1843983 human_phenotype HP:0006432 Trapezoidal distal femoral condyles HP:0006432 Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. HP:0004059 HP:0006420 HP:0410049 UMLS:C4025046 Abnormal radial ray morphology Deformity of radial ray Dysplastic radii Radial club hand Radial dysplasia Radial longitudinal deficiency Radial ray anomaly Radial ray deformity human_phenotype HP:0006433 Bayne et al. classified radial ray deficiency into four types based on the radiographic severity of the radial ray deficiency: Type I, short distal radius (radius is slightly shorter than ulna, distal growth plate is present); Type II, hypoplastic radius (radius is smaller/thinner than ulna, no growth plate is present); Type III, partial absence of the radius (only a small proximal radial segment is present); and Type IV, total absence (radius is completely absent, ulna may be curved). Radial ray deficiency HP:0006433 Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia. PMID:28603568 PMID:29257019 PMID:3559066 Dysplastic radii https://orcid.org/0000-0001-6908-9849 Radial longitudinal deficiency https://orcid.org/0000-0001-5208-3432 Proximal radial shortening owing to a congenital defect of development. HP:0006365 UMLS:C1859477 Proximal radial shortening human_phenotype HP:0006434 Hypoplasia of proximal radius HP:0006434 Proximal radial shortening owing to a congenital defect of development. https://orcid.org/0000-0002-0736-9199 true HP:0006435 HP:0005736 human_phenotype HP:0006436 obsolete Shortening of the tibia true HP:0006436 UMLS:C1834392 human_phenotype HP:0006437 Disproportionate prominence of the femoral medial condyle HP:0006437 An abnormal enlargement of the distal epiphysis of the femur. UMLS:C1843105 Enlargement of the outermost thighbone end part Large distal femoral epiphyses human_phenotype HP:0006438 Enlargement of the distal femoral epiphysis HP:0006438 An abnormal enlargement of the distal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Enlargement of the outermost thighbone end part https://orcid.org/0000-0001-5208-3432 A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate. HP:0003972 UMLS:C2673394 Dislocated radioulnar joints human_phenotype HP:0006439 This term refers to any kind of radioulnar joint dislocation (proximal, distal, both, or unknown). Radioulnar dislocation HP:0006439 UMLS:C1844516 Increased density of shaft of long bone human_phenotype HP:0006440 Increased density of long bone diaphyses HP:0006440 Increased density of shaft of long bone https://orcid.org/0000-0001-5208-3432 UMLS:C1833878 human_phenotype HP:0006441 Lateral humeral condyle aplasia HP:0006441 Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. UMLS:C1859478 Small innermost upper end of calf bone Underdeveloped innermost upper end of calf bone human_phenotype HP:0006442 Hypoplasia of proximal fibula HP:0006442 Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. PMID:880750 Small innermost upper end of calf bone https://orcid.org/0000-0001-5208-3432 Underdeveloped innermost upper end of calf bone https://orcid.org/0000-0001-5208-3432 Absence of the patella. HP:0003046 HP:0006475 UMLS:C1868578 Absent kneecap Absent patella Absent patellae Absent patellas Aplastic patellae human_phenotype HP:0006443 Patellar aplasia HP:0006443 Absence of the patella. https://orcid.org/0000-0002-0736-9199 Absent kneecap https://orcid.org/0000-0001-6908-9849 true HP:0006444 true HP:0006445 UMLS:C1849580 human_phenotype HP:0006446 Dysplastic patella HP:0006446 true HP:0006447 true HP:0006448 UMLS:C1850145 human_phenotype HP:0006449 Distal radial epiphyseal osteolysis HP:0006449 UMLS:C1857193 human_phenotype HP:0006450 Multicentric ossification of proximal femoral epiphyses HP:0006450 true HP:0006451 true HP:0006452 A developmental anomaly with lateral displacement of the femoral head. UMLS:C1855758 Laterally displaced femoral heads human_phenotype HP:0006453 Lateral displacement of the femoral head HP:0006453 A developmental anomaly with lateral displacement of the femoral head. https://orcid.org/0000-0002-0736-9199 Formation of bone in the patella later than normal. UMLS:C4021597 UMLS:C4280446 Delayed patellae ossification human_phenotype Delayed bone maturation of the knee cap HP:0006454 The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (PMID:6729496). Delayed patellar ossification HP:0006454 Formation of bone in the patella later than normal. PMID:6729496 https://orcid.org/0000-0002-0736-9199 Delayed bone maturation of the knee cap https://orcid.org/0000-0001-5208-3432 true HP:0006455 Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. UMLS:C4025045 Irregular innermost shankbone end part Irregular innermost shinbone end part human_phenotype HP:0006456 Irregular proximal tibial epiphyses HP:0006456 Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. https://orcid.org/0000-0002-0736-9199 Irregular innermost shankbone end part https://orcid.org/0000-0001-5208-3432 Irregular innermost shinbone end part https://orcid.org/0000-0001-5208-3432 true HP:0006457 true HP:0006458 Partial dislocation of the ulna in the dorsal direction. UMLS:C1851988 human_phenotype HP:0006459 Dorsal subluxation of ulna HP:0006459 Partial dislocation of the ulna in the dorsal direction. https://orcid.org/0000-0002-0736-9199 The ankle joint can move, passively and/or actively, beyond normal limits along its physiological axes. UMLS:C1850854 Increased laxity of ankles human_phenotype HP:0006460 Ankle hypermobility HP:0006460 Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. HP:0003000 UMLS:C0149887 Slipped capital femoral epiphyses Slipped capital femoral epiphysis Slipped end part of innermost thighbone human_phenotype HP:0006461 Proximal femoral epiphysiolysis HP:0006461 Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. https://orcid.org/0000-0002-0736-9199 Slipped end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 A generalized decrease in bone mineral density. UMLS:C1833326 Generalised bone demineralization human_phenotype HP:0006462 The terms Osteopenia or Osteoporosis should be preferred to this term, which may be obsoleted in the future. Generalized bone demineralization HP:0006462 A generalized decrease in bone mineral density. https://orcid.org/0000-0002-0736-9199 Generalised bone demineralization UMLS:C1833323 human_phenotype HP:0006463 Rickets of the lower limbs HP:0006463 true HP:0006464 Thickening of the periosteum of long bone. UMLS:C1834345 human_phenotype HP:0006465 Periosteal thickening of long tubular bones HP:0006465 Thickening of the periosteum of long bone. https://orcid.org/0000-0002-0736-9199 HP:0004985 HP:0006403 UMLS:C1837407 human_phenotype HP:0006466 Ankle flexion contracture HP:0006466 A limitation of the range of movement of the shoulder joint. UMLS:C1851313 Limited shoulder movement human_phenotype HP:0006467 Limited shoulder movement HP:0006467 A limitation of the range of movement of the shoulder joint. https://orcid.org/0000-0002-0736-9199 Limited shoulder movement true HP:0006468 true HP:0006469 Decreased width of the diaphysis of long bones. UMLS:C1859449 Thin diaphyses of long bones Thin shaft of long bone human_phenotype HP:0006470 Thin long bone diaphyses HP:0006470 Decreased width of the diaphysis of long bones. https://orcid.org/0000-0002-0736-9199 Thin shaft of long bone https://orcid.org/0000-0001-5208-3432 UMLS:C4025044 human_phenotype HP:0006471 Fixed elbow flexion HP:0006471 true HP:0006472 An abnormal anterior curvature of a long bone. UMLS:C1850644 human_phenotype HP:0006473 Anterior bowing of long bones HP:0006473 An abnormal anterior curvature of a long bone. https://orcid.org/0000-0002-0736-9199 true HP:0006474 true HP:0006475 An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. 2008-03-28T04:41:00Z HP:0100567 UMLS:C4025043 human_phenotype HP:0006476 Abnormality of the pancreatic islet cells HP:0006476 An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. https://orcid.org/0000-0002-0736-9199 Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. 2008-03-28T04:44:00Z Abnormality of the alveolar ridges SNOMEDCT_US:235013007 UMLS:C0341007 UMLS:C4280445 Abnormality of alveolar margin Abnormality of dentoalveolar ridges Abnormality of gum ridge Defect in alveolar ridge human_phenotype Abnormality of alveolar processes of jaw HP:0006477 Abnormal alveolar ridge morphology HP:0006477 Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. https://orcid.org/0000-0002-0736-9199 Abnormality of alveolar margin https://orcid.org/0000-0001-5889-4463 Abnormality of dentoalveolar ridges https://orcid.org/0000-0001-5889-4463 Abnormality of gum ridge https://orcid.org/0000-0001-5889-4463 Abnormality of alveolar processes of jaw https://orcid.org/0000-0001-5889-4463 true HP:0006478 An abnormality of the dental pulp. 2008-03-28T04:46:00Z UMLS:C4025042 Abnormality of the dental pulp Abnormality of tooth pulp human_phenotype Endodontic abnormality HP:0006479 Abnormal dental pulp morphology HP:0006479 An abnormality of the dental pulp. https://orcid.org/0000-0002-9338-3017 Abnormality of tooth pulp https://orcid.org/0000-0001-5889-4463 Endodontic abnormality https://orcid.org/0000-0001-5889-4463 Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. 2008-03-28T05:03:00Z HP:0000701 HP:0001564 HP:0006343 SNOMEDCT_US:234974002 SNOMEDCT_US:42756003 UMLS:C0232513 UMLS:C0399385 Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss Premature exfoliation of teeth human_phenotype HP:0006480 Premature loss of teeth HP:0006480 Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Early tooth loss Loss of teeth Premature teeth loss Premature tooth loss Premature exfoliation of teeth https://orcid.org/0000-0001-5889-4463 Any abnormality of the primary tooth. 2008-03-28T05:40:00Z UMLS:C4021596 Abnormality of baby teeth Abnormality of deciduous teeth Abnormality of milk teeth Abnormality of primary teeth human_phenotype HP:0006481 Primary teeth are also called temporary teeth or deciduous teeth. Abnormal primary tooth morphology HP:0006481 Any abnormality of the primary tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of baby teeth https://orcid.org/0000-0001-5889-4463 Abnormality of milk teeth https://orcid.org/0000-0001-5889-4463 An abnormality of the morphology of the tooth. 2008-03-28T05:41:00Z HP:0000697 SNOMEDCT_US:422775003 UMLS:C0040427 UMLS:C0262444 Abnormality of dental morphology Abnormality of dental shape Abnormality of shape of tooth Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformation of teeth Malformed teeth Misshapen teeth Misshapened teeth human_phenotype HP:0006482 Abnormal dental morphology HP:0006482 An abnormality of the morphology of the tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of dental shape https://orcid.org/0000-0001-5889-4463 Abnormality of shape of tooth https://orcid.org/0000-0001-5889-4463 Abnormally shaped teeth Deformity of teeth https://orcid.org/0000-0001-5889-4463 Dental deformity https://orcid.org/0000-0001-5889-4463 Dental malformations https://orcid.org/0000-0001-5889-4463 Malformation of teeth https://orcid.org/0000-0001-5889-4463 Malformed teeth Misshapen teeth Misshapened teeth The presence of an altered number of of teeth. 2008-03-28T05:44:00Z SNOMEDCT_US:335443002 UMLS:C1290508 Abnormal complement of teeth Abnormal number of teeth Abnormal tooth count human_phenotype HP:0006483 Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. Abnormal number of teeth HP:0006483 The presence of an altered number of of teeth. https://orcid.org/0000-0002-9338-3017 Abnormal complement of teeth https://orcid.org/0000-0001-5889-4463 Abnormal number of teeth Abnormal tooth count https://orcid.org/0000-0001-5889-4463 true HP:0006484 Agenesis of incisor. 2008-03-28T05:49:00Z UMLS:C4020815 UMLS:C4020816 UMLS:C4083290 Failure of development of incisor human_phenotype Absence of front tooth Absence of incisors Missing front tooth Missing incisors HP:0006485 Failure of one or more incisors to develop. Agenesis of incisor HP:0006485 Agenesis of incisor. https://orcid.org/0000-0002-0736-9199 Failure of development of incisor https://orcid.org/0000-0001-5889-4463 Absence of front tooth https://orcid.org/0000-0001-5889-4463 Absence of incisors Missing front tooth https://orcid.org/0000-0001-5889-4463 Missing incisors An abnormality of the dental root. 2008-03-28T05:52:00Z UMLS:C4025041 Abnormality of the dental root Abnormality of tooth root Dental root anomaly human_phenotype HP:0006486 Abnormal dental root morphology HP:0006486 An abnormality of the dental root. https://orcid.org/0000-0002-9338-3017 Abnormality of the dental root Abnormality of tooth root https://orcid.org/0000-0001-5889-4463 A bending or abnormal curvature of a long bone. 2008-03-28T05:56:00Z HP:0002976 HP:0005087 HP:0005908 HP:0006404 HP:0006451 HP:0006452 UMLS:C1855340 Bowed long bones Bowing of long bones Bowing of the long bones Camptomelia Diaphyseal bowing Diaphyseal bowing of long bones human_phenotype HP:0006487 Curvatures of a long bone such as femur, tibia, or fibula. Bowing of the long bones HP:0006487 A bending or abnormal curvature of a long bone. https://orcid.org/0000-0002-0736-9199 Bowed long bones Bowing of long bones Bowing of the long bones A bending or abnormal curvature affecting a long bone of the arm. 2008-03-28T05:57:00Z UMLS:C0426863 Bending of the arm Bowing of the arm human_phenotype HP:0006488 Bowing of the arm HP:0006488 A bending or abnormal curvature affecting a long bone of the arm. https://orcid.org/0000-0002-0736-9199 Bending of the arm https://orcid.org/0000-0001-5208-3432 Bowing of the arm An anomaly of the femoral metaphysis. 2008-03-28T06:02:00Z Abnormality of the wide portion of the femoral bone UMLS:C4025040 UMLS:C4280444 Abnormality of the femoral metaphysis human_phenotype HP:0006489 Abnormal femoral metaphysis morphology HP:0006489 An anomaly of the femoral metaphysis. https://orcid.org/0000-0002-0736-9199 Abnormality of the wide portion of the femoral bone https://orcid.org/0000-0001-5208-3432 2008-03-28T06:02:00Z UMLS:C4025039 Abnormality of lower-limb metaphyses Abnormality of the wide portion of the lower-limb bone human_phenotype HP:0006490 Abnormal lower-limb metaphysis morphology HP:0006490 Abnormality of the wide portion of the lower-limb bone https://orcid.org/0000-0001-5208-3432 2008-03-28T06:03:00Z Abnormality of the wide portion of shankbone Abnormality of the wide portion of shinbone UMLS:C4025038 Abnormality of the tibial metaphysis human_phenotype HP:0006491 Abnormal tibial metaphysis morphology HP:0006491 Abnormality of the wide portion of shankbone https://orcid.org/0000-0001-5208-3432 Abnormality of the wide portion of shinbone https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the fibula. 2008-03-28T06:03:00Z HP:0005672 HP:0006421 UMLS:C1856732 Absent/small calf bone Absent/underdeveloped calf bone Fibular aplasia/hypoplasia Hypoplastic/aplastic fibulae human_phenotype HP:0006492 Aplasia/Hypoplasia of the fibula HP:0006492 Absence or underdevelopment of the fibula. https://orcid.org/0000-0002-0736-9199 Absent/small calf bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped calf bone https://orcid.org/0000-0001-5208-3432 Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. 2008-03-28T06:04:00Z UMLS:C4025037 Absent/small lower limb bones Absent/underdeveloped lower limb bones human_phenotype HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs HP:0006493 Absence (due to failure to form) or underdevelopment of the bones of the lower limbs. https://orcid.org/0000-0002-0736-9199 Absent/small lower limb bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped lower limb bones https://orcid.org/0000-0001-5208-3432 2008-03-28T06:08:00Z UMLS:C4025036 Absent/small foot bones Absent/underdeveloped foot bones human_phenotype HP:0006494 Aplasia/Hypoplasia involving bones of the feet HP:0006494 Absent/small foot bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped foot bones https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the ulna. 2008-03-28T06:15:00Z HP:0005097 HP:0006372 HP:0006410 UMLS:C1865571 Absence/underdevelopment of inner forearm bone Absent-hypoplastic ulnae Absent/small ulna Hypoplasia or unilateral/bilateral absence of ulna Ulnar hypoplasia/aplasia human_phenotype HP:0006495 Aplasia/Hypoplasia of the ulna HP:0006495 Absence or underdevelopment of the ulna. https://orcid.org/0000-0002-0736-9199 Absence/underdevelopment of inner forearm bone https://orcid.org/0000-0002-6548-5200 Absent/small ulna https://orcid.org/0000-0001-5208-3432 Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. 2008-03-28T06:16:00Z UMLS:C4025035 Absent/small bones of the upper limbs Absent/underdeveloped bones of the upper limbs human_phenotype HP:0006496 Aplasia/hypoplasia involving bones of the upper limbs HP:0006496 Absence (due to failure to form) or underdevelopment of the bones of the upper limbs. https://orcid.org/0000-0002-0736-9199 Absent/small bones of the upper limbs https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped bones of the upper limbs https://orcid.org/0000-0001-5208-3432 true HP:0006497 Absence or underdevelopment of the patella. 2008-03-28T06:25:00Z HP:0005006 HP:0005027 HP:0005702 HP:0005729 HP:0006374 UMLS:C1868577 Absent or hypoplastic patellae Absent/hypoplastic patella Absent/small kneecap Absent/underdeveloped kneecap Aplastic or hypoplastic patellae Hypoplastic or absent patella Patellar aplasia/hypoplasia Small to absent patellae human_phenotype HP:0006498 Aplasia/Hypoplasia of the patella HP:0006498 Absence or underdevelopment of the patella. https://orcid.org/0000-0002-0736-9199 Absent/small kneecap https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped kneecap https://orcid.org/0000-0001-5208-3432 An anomaly of a growth plate of a femur. 2008-03-28T06:28:00Z HP:0006412 HP:0008811 UMLS:C4025034 Abnormality of femoral epiphysis Abnormality of thighbone end part human_phenotype HP:0006499 Abnormal femoral epiphysis morphology HP:0006499 An anomaly of a growth plate of a femur. https://orcid.org/0000-0002-0736-9199 Abnormality of thighbone end part https://orcid.org/0000-0001-5208-3432 An anomaly of one or more epiphyses of one or both legs. 2008-03-28T06:31:00Z UMLS:C4021595 Abnormal shape of end part of lower limb end bone Abnormality involving the epiphyses of the lower limbs Abnormality of lower limb epiphysis morphology human_phenotype HP:0006500 Abnormal lower limb epiphysis morphology HP:0006500 Abnormal shape of end part of lower limb end bone https://orcid.org/0000-0001-5208-3432 A small/hypoplastic or absent/aplastic radius. 2008-03-28T06:32:00Z HP:0005718 UMLS:C2749463 Absence or underdevelopment of the radius bone of the arm Absent/small radius Absent/underdeveloped radius Radial aplasia/hypoplasia human_phenotype HP:0006501 Aplasia/Hypoplasia of the radius HP:0006501 A small/hypoplastic or absent/aplastic radius. https://orcid.org/0000-0002-0736-9199 Absent/small radius https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped radius https://orcid.org/0000-0001-6908-9849 Absence or underdevelopment of the carpal bones. 2008-03-28T06:35:00Z UMLS:C4025033 Absent/small wrist bones Absent/underdeveloped wrist bones human_phenotype HP:0006502 Aplasia/Hypoplasia involving the carpal bones HP:0006502 Absence or underdevelopment of the carpal bones. https://orcid.org/0000-0002-0736-9199 Absent/small wrist bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped wrist bones https://orcid.org/0000-0001-5208-3432 Absence (due to failure to form) or underdevelopment of one or more forearm bones. 2008-03-28T06:45:00Z UMLS:C4025032 Absent/small forearm bones Absent/underdeveloped forearm bones human_phenotype HP:0006503 Aplasia/hypoplasia involving forearm bones HP:0006503 Absence (due to failure to form) or underdevelopment of one or more forearm bones. https://orcid.org/0000-0002-0736-9199 Absent/small forearm bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped forearm bones https://orcid.org/0000-0001-5208-3432 HP:0000940 2008-03-28T06:47:00Z Abnormality of shaft of long bone of the limbs human_phenotype HP:0006504 obsolete Anomaly of the limb diaphyses morphology true HP:0006504 Abnormality of shaft of long bone of the limbs https://orcid.org/0000-0001-5208-3432 An anomaly of one or more epiphyses of a limb. 2008-03-28T06:48:00Z UMLS:C4021593 Abnormal shape of end part of limb bones Abnormality involving the epiphyses of the limbs Abnormality of limb epiphysis morphology human_phenotype HP:0006505 An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. Abnormal limb epiphysis morphology HP:0006505 Abnormal shape of end part of limb bones https://orcid.org/0000-0001-5208-3432 true HP:0006506 Absence (due to failure to form) or underdevelopment of the humerus. 2008-03-29T09:15:00Z UMLS:C4025031 Absent/small long bone in upper arm Absent/underdeveloped long bone in upper arm human_phenotype HP:0006507 Aplasia/hypoplasia of the humerus HP:0006507 Absence (due to failure to form) or underdevelopment of the humerus. https://orcid.org/0000-0002-0736-9199 Absent/small long bone in upper arm https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped long bone in upper arm https://orcid.org/0000-0001-5208-3432 2008-03-29T09:19:00Z UMLS:C4025030 Abnormality of end part of shinbone human_phenotype HP:0006508 Abnormality of tibial epiphyses HP:0006508 Abnormality of end part of shinbone https://orcid.org/0000-0001-5208-3432 Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). SNOMEDCT_US:14011008 UMLS:C0340213 Tracheal diverticulosis Tracheal diverticulum Tracheocele human_phenotype Paratracheal air cyst HP:0006509 Diverticulosis of trachea HP:0006509 Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical). PMID:18544671 PMID:27867581 Tracheal diverticulum http://radiopaedia.org/articles/tracheal-diverticulum https://orcid.org/0000-0001-5208-3432 An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. HP:0006541 SNOMEDCT_US:13645005 UMLS:C0024117 COPD Chronic obstructive pulmonary disease human_phenotype HP:0006510 COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases. Chronic pulmonary obstruction HP:0006510 An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. PMID:25943942 COPD An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. SNOMEDCT_US:406444002 SNOMEDCT_US:41432000 SNOMEDCT_US:53787002 UMLS:C0023066 Laryngeal stidor human_phenotype HP:0006511 The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. Laryngeal stridor HP:0006511 An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. https://orcid.org/0000-0002-0736-9199 true HP:0006512 true HP:0006513 UMLS:C4025028 human_phenotype HP:0006514 Intraalveolar nodular calcifications HP:0006514 SNOMEDCT_US:64667001 UMLS:C0206061 human_phenotype HP:0006515 Interstitial pneumonitis HP:0006515 Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). SNOMEDCT_US:37471005 UMLS:C0002390 human_phenotype HP:0006516 Hypersensitivity pneumonitis may also be called many different names, based on the provoking antigen. Hypersensitivity pneumonitis HP:0006516 Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). PMID:15316440 PMID:16635083 PMID:18051218 https://orcid.org/0000-0003-0113-912X Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. HP:0032982 SNOMEDCT_US:10501004 UMLS:C0034050 Alveolar proteinosis Detection of PAS-positive extracellular material in broncho-alveolar lavage Pulmonary alveolar proteinosis human_phenotype HP:0006517 The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perform. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). Intraalveolar phospholipid accumulation HP:0006517 Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. PMID:21900000 PMID:22891182 https://orcid.org/0000-0002-0736-9199 Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. Fyler:3002 SNOMEDCT_US:89420002 UMLS:C0034091 UMLS:C4280802 Pulmonary venous stenosis human_phenotype Pulmonary venoocclusive disease HP:0006518 This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterized by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary edema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnea, fatigue and cough. Pulmonary venous occlusion HP:0006518 Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. PMID:20456932 PMID:27009171 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-4546-6667 Adenocarcinoma of the Bronchus. HP:0006757 SNOMEDCT_US:112677002 SNOMEDCT_US:36310008 SNOMEDCT_US:373627005 UMLS:C0007120 human_phenotype HP:0006519 Alveolar cell carcinoma HP:0006519 Adenocarcinoma of the Bronchus. https://orcid.org/0000-0002-0736-9199 UMLS:C1849570 human_phenotype HP:0006520 Progressive pulmonary function impairment HP:0006520 Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. HP:0006526 HP:0006551 UMLS:C1855480 Pulmonary lymphangiectasis human_phenotype HP:0006521 Pulmonary lymphangiectasia HP:0006521 Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. https://orcid.org/0000-0002-0736-9199 UMLS:C4025027 Repeated pneumothorax human_phenotype HP:0006522 Repeated pneumothoraces HP:0006522 Repeated pneumothorax https://orcid.org/0000-0001-6908-9849 true HP:0006523 UMLS:C3806786 human_phenotype HP:0006524 Tracheobronchial leiomyomatosis HP:0006524 HP:0002101 human_phenotype HP:0006525 obsolete Lung segmentation defects true HP:0006525 true HP:0006526 Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. SNOMEDCT_US:44274007 UMLS:C0264511 Lymphocytic interstitial pneumonitis Lymphoid interstitial pneumonia Lymphoid interstitial pneumonitis human_phenotype HP:0006527 Lymphocytic interstitial pneumonitis is assumed to be a pathological immunologic response to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. Associated clinical manifestations often include fever, cough, and shortness of breath. Lymphocytic interstitial pneumonia HP:0006527 Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. PMID:32040879 https://orcid.org/0000-0002-0736-9199 According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. SNOMEDCT_US:413839001 UMLS:C0746102 Chronic lung disease human_phenotype HP:0006528 Chronic lung disease HP:0006528 According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. HPO_CONTRIBUTOR:IMM_tkuijpers Chronic lung disease An abnormality of the pulmonary lymphatic chain. UMLS:C4025026 human_phenotype HP:0006529 Abnormal pulmonary lymphatics HP:0006529 An abnormality of the pulmonary lymphatic chain. https://orcid.org/0000-0002-0736-9199 Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. HP:0006513 HP:0006547 SNOMEDCT_US:233703007 UMLS:C0206062 Abnormal lung parenchyma morphology Abnormality in area between air sacs in lung Interstitial lung disease Interstitial pulmonary disease human_phenotype HP:0006530 Abnormal pulmonary interstitial morphology HP:0006530 Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. https://orcid.org/0000-0002-0736-9199 Abnormality in area between air sacs in lung https://orcid.org/0000-0002-6548-5200 UMLS:C1856139 human_phenotype HP:0006531 Pleural lymphangiectasia HP:0006531 An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. HP:0002095 HP:0002096 SNOMEDCT_US:128601007 SNOMEDCT_US:699014000 UMLS:C0694550 UMLS:C0748140 UMLS:C0876973 UMLS:C1859117 Multiple pulmonary infections Pneumonia, recurrent Pneumonia, recurrent episodes Pulmonary infection Pulmonary infections Recurrent pneumonia Recurrent pulmonary infections pulmonary infections, recurrent human_phenotype HP:0006532 Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. Recurrent pneumonia HP:0006532 An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. PMID:15750465 https://orcid.org/0000-0002-0736-9199 Pneumonia, recurrent https://orcid.org/0000-0002-5316-1399 Recurrent pneumonia pulmonary infections, recurrent https://orcid.org/0000-0002-5316-1399 UMLS:C4025025 human_phenotype HP:0006533 Bronchodysplasia HP:0006533 true HP:0006534 A recurrent hemorrhage occurring within the lung. UMLS:C3805919 Recurrent bleeding into lungs Recurrent intrapulmonary haemorrhage Recurrent pulmonary haemorrhage Recurrent pulmonary hemorrhage human_phenotype HP:0006535 Recurrent intrapulmonary hemorrhage HP:0006535 A recurrent hemorrhage occurring within the lung. HPO_CONTRIBUTOR:gcarletti Recurrent bleeding into lungs https://orcid.org/0000-0001-5208-3432 Recurrent intrapulmonary haemorrhage Recurrent pulmonary haemorrhage Recurrent pulmonary hemorrhage https://orcid.org/0000-0001-6908-9849 Obstruction of conducting airways of the lung. HP:0006512 UMLS:C0600260 Obstructive lung disease Pulmonary obstruction human_phenotype HP:0006536 Airway obstruction HP:0006536 Obstruction of conducting airways of the lung. https://orcid.org/0000-0002-0736-9199 Obstructive lung disease true HP:0006537 An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. Recurrent infections in bronchi and lungs UMLS:C2169795 Recurrent bronchopneumonia human_phenotype HP:0006538 Recurrent bronchopulmonary infections HP:0006538 An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. https://orcid.org/0000-0002-0736-9199 Recurrent infections in bronchi and lungs https://orcid.org/0000-0001-5208-3432 UMLS:C4025024 Underdevelopment of the bronical cartilage human_phenotype HP:0006539 Bronchial cartilage hypoplasia HP:0006539 Underdevelopment of the bronical cartilage https://orcid.org/0000-0001-5208-3432 true HP:0006540 HP:0006510 human_phenotype HP:0006541 obsolete Chronic obstructive airway disease from birth true HP:0006541 true HP:0006542 SNOMEDCT_US:410430005 UMLS:C0600228 human_phenotype HP:0006543 Cardiorespiratory arrest HP:0006543 A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. HP:0010962 UMLS:C4020814 UMLS:C4025023 Extralobar sequestration Extrapulmonary sequestrum human_phenotype Diaphragmatic sequestrum HP:0006544 Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. Extrapulmonary sequestra nearly all appear on the left side. Extrapulmonary lobar sequestration HP:0006544 A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree. PMID:20610189 https://orcid.org/0000-0002-0736-9199 true HP:0006545 true HP:0006546 true HP:0006547 Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. HP:0002114 HP:0006537 Fyler:2210 UMLS:C1857690 Pulmonary AV malformation human_phenotype HP:0006548 Pulmonary arteriovenous malformation HP:0006548 Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. PMID:30386957 PMID:788535 UMLS:C4021592 Primary pulmonary dysgenesis, unilateral human_phenotype HP:0006549 Unilateral primary pulmonary dysgenesis HP:0006549 true HP:0006550 true HP:0006551 UMLS:C1397290 human_phenotype HP:0006552 Fibrocystic lung disease HP:0006552 true HP:0006553 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. HP:0006556 SNOMEDCT_US:197270009 SNOMEDCT_US:235884008 UMLS:C0162557 Acute liver failure human_phenotype HP:0006554 Acute hepatic failure HP:0006554 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. https://orcid.org/0000-0002-0736-9199 Acute liver failure A diffuse form of hepatic steatosis. UMLS:C1849686 Hepatic steatosis, diffuse human_phenotype HP:0006555 Diffuse hepatic steatosis HP:0006555 A diffuse form of hepatic steatosis. https://orcid.org/0000-0002-0736-9199 true HP:0006556 SNOMEDCT_US:72925005 UMLS:C0158683 human_phenotype HP:0006557 Polycystic liver disease HP:0006557 Decreased activity of complex III of the mitochondrion in the liver. UMLS:C4025022 human_phenotype HP:0006558 Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. Decreased mitochondrial complex III activity in liver tissue HP:0006558 Decreased activity of complex III of the mitochondrion in the liver. https://orcid.org/0000-0002-0736-9199 The presence of abnormal calcium deposition in the liver. UMLS:C1696466 Liver calcifications human_phenotype HP:0006559 Hepatic calcification HP:0006559 The presence of abnormal calcium deposition in the liver. https://orcid.org/0000-0002-0736-9199 Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. UMLS:C3672440 UMLS:C3686778 Bile duct hyperplasia human_phenotype HP:0006560 Biliary hyperplasia HP:0006560 Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. https://orcid.org/0000-0002-0736-9199 UMLS:C1837257 human_phenotype HP:0006561 Lipid accumulation in hepatocytes HP:0006561 Inflammation of the liver due to infection with a virus. SNOMEDCT_US:3738000 UMLS:C0042721 human_phenotype HP:0006562 Viral hepatitis HP:0006562 Inflammation of the liver due to infection with a virus. https://orcid.org/0000-0002-0736-9199 UMLS:C1857519 human_phenotype HP:0006563 Malformation of the hepatic ductal plate HP:0006563 Intermittently increased size of the liver. UMLS:C1835881 human_phenotype HP:0006564 Fluctuating hepatomegaly HP:0006564 Intermittently increased size of the liver. https://orcid.org/0000-0002-0736-9199 An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. UMLS:C4025021 human_phenotype HP:0006565 Lipid droplets, rich in triglycerides and cholesterol esters, are cellular lipid storage organelles. Increased hepatocellular lipid droplets HP:0006565 An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. https://orcid.org/0000-0002-0736-9199 UMLS:C1859162 human_phenotype HP:0006566 Neonatal cholestatic liver disease HP:0006566 true HP:0006567 An increase in the amount of glycogen stored in hepatocytes compared to normal. UMLS:C1856285 Increased liver glycogen content human_phenotype HP:0006568 Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. Increased hepatic glycogen content HP:0006568 An increase in the amount of glycogen stored in hepatocytes compared to normal. https://orcid.org/0000-0002-0736-9199 true HP:0006569 true HP:0006570 The presence of reduced numbers of intrahepatic bile duct than normal. UMLS:C1861621 UMLS:C4021591 Hepatic ductopenia human_phenotype Intrahepatic duct deficiency HP:0006571 Reduced number of intrahepatic bile ducts HP:0006571 The presence of reduced numbers of intrahepatic bile duct than normal. https://orcid.org/0000-0002-0736-9199 UMLS:C1861901 human_phenotype HP:0006572 Subacute progressive viral hepatitis HP:0006572 An acute form of hepatic steatosis. UMLS:C4025020 Acute fatty liver human_phenotype HP:0006573 Acute hepatic steatosis HP:0006573 An acute form of hepatic steatosis. https://orcid.org/0000-0002-0736-9199 Acute fatty liver https://orcid.org/0000-0001-6908-9849 HP:0006569 SNOMEDCT_US:84150000 UMLS:C0520557 Liver arteriovenous malformation human_phenotype HP:0006574 Hepatic arteriovenous malformation HP:0006574 UMLS:C4025019 human_phenotype HP:0006575 Intrahepatic cholestasis with episodic jaundice HP:0006575 UMLS:C1861790 Liver vascular malformations human_phenotype HP:0006576 Hepatic vascular malformations HP:0006576 Liver vascular malformations https://orcid.org/0000-0001-6908-9849 A type of cirrhosis characterized by the presence of large regenerative nodules. SNOMEDCT_US:43904005 SNOMEDCT_US:86454000 UMLS:C2004456 human_phenotype HP:0006577 In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. Macronodular cirrhosis HP:0006577 A type of cirrhosis characterized by the presence of large regenerative nodules. https://orcid.org/0000-0002-0736-9199 true HP:0006578 Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. HP:0000986 SNOMEDCT_US:387712008 UMLS:C0022353 UMLS:C1859236 Neonatal jaundice Prolonged yellowing of skin in newborn human_phenotype Jaundice, neonatal HP:0006579 Prolonged neonatal jaundice HP:0006579 Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. https://orcid.org/0000-0002-0736-9199 Prolonged yellowing of skin in newborn https://orcid.org/0000-0001-5889-4463 Jaundice, neonatal https://orcid.org/0000-0002-5316-1399 Fibroblast proliferation and fiber expansion from the portal areas to the lobule. UMLS:C2677002 UMLS:C3805083 human_phenotype Portal fibrosis shown on biopsy HP:0006580 Portal fibrosis can be seen in viral hepatitis and other types of liver disease. Portal fibrosis HP:0006580 Fibroblast proliferation and fiber expansion from the portal areas to the lobule. https://orcid.org/0000-0002-0736-9199 Portal fibrosis shown on biopsy https://orcid.org/0000-0002-5316-1399 An abnormal reduction in the number of mitochondria in hepatocytes. UMLS:C4025018 human_phenotype HP:0006581 Depletion of mitochondrial DNA in liver HP:0006581 An abnormal reduction in the number of mitochondria in hepatocytes. https://orcid.org/0000-0002-0736-9199 Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. UMLS:C1850413 human_phenotype HP:0006582 This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810]. Reye syndrome-like episodes HP:0006582 UMLS:C4025017 Fatal liver failure in infancy human_phenotype HP:0006583 Fatal liver failure in infancy HP:0006583 Fatal liver failure in infancy HP:0006629 UMLS:C1861226 Small abnormally formed scapula Small abnormally formed shoulder blade human_phenotype HP:0006584 Small abnormally formed scapulae HP:0006584 Small abnormally formed shoulder blade https://orcid.org/0000-0001-5208-3432 The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. HP:0006612 HP:0006661 SNOMEDCT_US:249685004 SNOMEDCT_US:249690001 UMLS:C0426806 UMLS:C0426811 Clavicle pseudoarthrosis Pseudoarthrosis of clavicle human_phenotype Bipartite clavicle HP:0006585 In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See PMID:22295044, Figure 1, for the radiographic appearance of this feature. Congenital pseudoarthrosis of the clavicle HP:0006585 The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. PMID:22295044 https://orcid.org/0000-0002-0736-9199 true HP:0006586 An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . UMLS:C4025016 Straight clavicles Straight collarbone human_phenotype HP:0006587 Straight clavicle HP:0006587 An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . https://orcid.org/0000-0002-0736-9199 Straight clavicles Straight collarbone https://orcid.org/0000-0001-5208-3432 true HP:0006588 UMLS:C1855196 Flaring of lower rib cage human_phenotype HP:0006589 Flaring of lower rib cage HP:0006589 Flaring of lower rib cage Prematurely closed sternal sutures. UMLS:C4021590 Prematurely closed sternal sutures human_phenotype HP:0006590 Premature sternal synostosis HP:0006590 Prematurely closed sternal sutures. PMID:13542801 https://orcid.org/0000-0002-0736-9199 Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. UMLS:C4021589 Aplasia of the glenoid fossa human_phenotype HP:0006591 Absent glenoid fossa HP:0006591 Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. https://orcid.org/0000-0002-0736-9199 true HP:0006592 UMLS:C1861704 human_phenotype HP:0006593 Anomalous rib insertion to vertebrae HP:0006593 true HP:0006594 Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. HP:0010792 UMLS:C1865362 Fusion of shoulder blade to long bone in upper arm Humero-scapulo synostosis Humeroscapular synostosis Synostosis of shoulder joint human_phenotype HP:0006595 Scapulohumeral synostosis HP:0006595 Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. https://orcid.org/0000-0002-0736-9199 Fusion of shoulder blade to long bone in upper arm https://orcid.org/0000-0001-5208-3432 UMLS:C4025015 Restricted chest movement human_phenotype HP:0006596 Restricted chest movement HP:0006596 Restricted chest movement The presence of a paralyzed diaphragm. SNOMEDCT_US:64228003 UMLS:C0035232 Diaphragmatic paralysis Paralysed diaphragm Paralyzed diaphragm human_phenotype HP:0006597 Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. Diaphragmatic paralysis HP:0006597 The presence of a paralyzed diaphragm. PMID:3612666 https://orcid.org/0000-0002-0736-9199 Diaphragmatic paralysis Paralysed diaphragm Paralyzed diaphragm https://orcid.org/0000-0001-6908-9849 UMLS:C1850083 human_phenotype HP:0006598 Irregular ossification at anterior rib ends HP:0006598 UMLS:C1866729 Medial widening of clavicles human_phenotype HP:0006599 Medial widening of clavicle HP:0006599 Medial widening of clavicles UMLS:C1968577 human_phenotype HP:0006600 Progressive calcification of costochondral cartilage HP:0006600 true HP:0006601 true HP:0006602 UMLS:C1865833 Flared, irregular rib ends human_phenotype HP:0006603 Flared, irregular rib ends HP:0006603 Flared, irregular rib ends true HP:0006604 true HP:0006605 Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. HP:0006658 UMLS:C1861199 Irregular costochondral margins human_phenotype HP:0006606 The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. Irregular chondrocostal junctions HP:0006606 Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. https://orcid.org/0000-0002-0736-9199 Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. UMLS:C1849049 human_phenotype HP:0006607 The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. Precocious costochondral ossification HP:0006607 Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage. PMID:10489169 https://orcid.org/0000-0002-0736-9199 Underdevelopment of the middle portion of the clavicle. UMLS:C1844530 Underdeveloped middle portion of the collarbone human_phenotype HP:0006608 Midclavicular hypoplasia HP:0006608 Underdevelopment of the middle portion of the clavicle. https://orcid.org/0000-0002-0736-9199 Underdeveloped middle portion of the collarbone https://orcid.org/0000-0001-5208-3432 true HP:0006609 A larger than usual distance between the left and right nipple. HP:0000779 HP:0001554 SNOMEDCT_US:423230008 UMLS:C1827524 Wide-spaced nipples Widely spaced nipples Widely-spaced nipples human_phenotype HP:0006610 Wide intermamillary distance HP:0006610 A larger than usual distance between the left and right nipple. https://orcid.org/0000-0002-0736-9199 Wide-spaced nipples Widely spaced nipples Widely-spaced nipples A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. UMLS:C1856223 Decreased number of sternal ossification centres human_phenotype HP:0006611 Decreased number of sternal ossification centers HP:0006611 A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms. PMID:10204210 https://orcid.org/0000-0002-0736-9199 Decreased number of sternal ossification centres true HP:0006612 true HP:0006613 true HP:0006614 Lack of formation and mineralization of the ribs in utero. UMLS:C1842695 Absent rib calcification in utero human_phenotype HP:0006615 Absent in utero rib ossification HP:0006615 Lack of formation and mineralization of the ribs in utero. https://orcid.org/0000-0002-0736-9199 Absent rib calcification in utero https://orcid.org/0000-0001-5208-3432 true HP:0006616 true HP:0006617 true HP:0006618 Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. UMLS:C1859120 human_phenotype HP:0006619 Anterior rib punctate calcifications HP:0006619 Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. https://orcid.org/0000-0002-0736-9199 true HP:0006620 true HP:0006621 true HP:0006622 Abnormal increase in density of the tissue at the costochondral junctions. UMLS:C4021588 Sclerotic costochondral joints human_phenotype HP:0006623 Costochondral joint sclerosis HP:0006623 Abnormal increase in density of the tissue at the costochondral junctions. https://orcid.org/0000-0002-0736-9199 true HP:0006624 Breast carcinoma that is bilateral or otherwise multifocal. UMLS:C2986662 Multifocal breast cancer human_phenotype HP:0006625 Multifocal breast carcinoma HP:0006625 Breast carcinoma that is bilateral or otherwise multifocal. https://orcid.org/0000-0002-0736-9199 true HP:0006626 true HP:0006627 Lack of formation of mineralized bony tissue of the sternum. HP:0006654 HP:0006666 UMLS:C1857074 UMLS:C4280443 Absent sternal mineralization Lack of sternal ossification human_phenotype Absent bone maturation in sternum HP:0006628 Absent sternal ossification HP:0006628 Lack of formation of mineralized bony tissue of the sternum. https://orcid.org/0000-0002-0736-9199 Absent bone maturation in sternum https://orcid.org/0000-0001-5208-3432 true HP:0006629 true HP:0006630 Small outermost segments of shoulder blade UMLS:C4025014 Small distal segments of the shoulder blade Underdeveloped outermost segments of shoulder blade human_phenotype HP:0006631 Hypoplastic distal segments of scapulae HP:0006631 Small distal segments of the shoulder blade https://orcid.org/0000-0001-5208-3432 Underdeveloped outermost segments of shoulder blade https://orcid.org/0000-0001-5208-3432 true HP:0006632 Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. HP:0006632 UMLS:C1834384 Glenoid hypoplasia Hypoplastic glenoid fossa human_phenotype HP:0006633 Glenoid fossa hypoplasia HP:0006633 Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. https://orcid.org/0000-0002-0736-9199 Osteosclerosis of ribs (increased density related to increased bone mass). UMLS:C4025013 Increased bone density in ribs human_phenotype HP:0006634 Osteosclerosis of ribs HP:0006634 Osteosclerosis of ribs (increased density related to increased bone mass). https://orcid.org/0000-0002-0736-9199 Increased bone density in ribs https://orcid.org/0000-0001-5208-3432 true HP:0006635 true HP:0006636 UMLS:C1859121 human_phenotype HP:0006637 Sternal punctate calcifications HP:0006637 Developmental defect resulting in congenital absence of the middle portion of the clavicle. UMLS:C1844529 Missing middle part of collarbone human_phenotype HP:0006638 Midclavicular aplasia HP:0006638 Developmental defect resulting in congenital absence of the middle portion of the clavicle. https://orcid.org/0000-0002-0736-9199 Missing middle part of collarbone https://orcid.org/0000-0001-5208-3432 true HP:0006639 More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. HP:0000923 SNOMEDCT_US:1261007 UMLS:C0272567 Multiple rib fractures human_phenotype HP:0006640 Multiple rib fractures HP:0006640 More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib. https://orcid.org/0000-0002-0736-9199 Multiple rib fractures UMLS:C4025012 Prominent floating ribs human_phenotype HP:0006641 Prominent floating ribs HP:0006641 Prominent floating ribs UMLS:C1865241 Large sternal ossification centres human_phenotype HP:0006642 Large sternal ossification centers HP:0006642 Large sternal ossification centres UMLS:C1859376 Fused sternal ossification centres human_phenotype HP:0006643 Fused sternal ossification centers HP:0006643 Fused sternal ossification centres UMLS:C1406921 human_phenotype HP:0006644 Thoracic dysplasia HP:0006644 Abnormally reduced diameter (cross section) of the clavicles. SNOMEDCT_US:298764003 UMLS:C0575535 Thin clavicles Thin collarbone human_phenotype HP:0006645 Thin clavicle HP:0006645 Abnormally reduced diameter (cross section) of the clavicles. https://orcid.org/0000-0002-0736-9199 Thin clavicles Thin collarbone https://orcid.org/0000-0001-5208-3432 Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. HP:0006662 UMLS:C1855608 Cartilaginous ossification of rib human_phenotype HP:0006646 Costal cartilage calcification HP:0006646 Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. https://orcid.org/0000-0002-0736-9199 UMLS:C4025011 human_phenotype HP:0006647 Congenital microthorax HP:0006647 true HP:0006648 Chest wall pain in the area of the costochondral junctions. UMLS:C4021587 Costochondral junction pain human_phenotype HP:0006649 Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. Costochondral pain HP:0006649 Chest wall pain in the area of the costochondral junctions. https://orcid.org/0000-0002-0736-9199 UMLS:C1834383 Thickening of the lateral border of the shoulder blade human_phenotype HP:0006650 Thickening of the lateral border of the scapula HP:0006650 Thickening of the lateral border of the shoulder blade https://orcid.org/0000-0001-5208-3432 true HP:0006651 true HP:0006652 true HP:0006653 true HP:0006654 UMLS:C1968999 human_phenotype HP:0006655 Rib segmentation abnormalities HP:0006655 true HP:0006656 HP:0006614 HP:0006653 UMLS:C1834386 Hypoplastic first rib Hypoplastic first ribs Small first rib Underdeveloped first rib human_phenotype HP:0006657 Hypoplasia of first ribs HP:0006657 Small first rib https://orcid.org/0000-0001-5208-3432 Underdeveloped first rib https://orcid.org/0000-0001-5208-3432 true HP:0006658 UMLS:C1862491 Internally rotated shoulders human_phenotype HP:0006659 Internally rotated shoulders HP:0006659 Internally rotated shoulders Absence of the clavicles as a developmental defect. UMLS:C1857665 Absent clavicles Absent collarbone Aplastic clavicles human_phenotype HP:0006660 Aplastic clavicle HP:0006660 Absence of the clavicles as a developmental defect. https://orcid.org/0000-0002-0736-9199 Absent collarbone https://orcid.org/0000-0001-5208-3432 Aplastic clavicles true HP:0006661 true HP:0006662 true HP:0006663 true HP:0006664 An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). UMLS:C4025010 Coat hanger sign of ribs human_phenotype HP:0006665 The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. Coat hanger sign of ribs HP:0006665 An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). PMID:12712270 PMID:21607596 https://orcid.org/0000-0002-0736-9199 Coat hanger sign of ribs true HP:0006666 true HP:0006667 UMLS:C1859361 Small twelfth rib Underdeveloped twelfth rib human_phenotype HP:0006668 Twelfth rib hypoplasia HP:0006668 Small twelfth rib https://orcid.org/0000-0001-5208-3432 Underdeveloped twelfth rib https://orcid.org/0000-0001-5208-3432 true HP:0006669 UMLS:C4025009 human_phenotype HP:0006670 Impaired myocardial contractility HP:0006670 SNOMEDCT_US:195069001 UMLS:C0030587 human_phenotype HP:0006671 Paroxysmal atrial tachycardia HP:0006671 true HP:0006672 UMLS:C4025008 human_phenotype HP:0006673 Reduced systolic function HP:0006673 true HP:0006674 true HP:0006675 true HP:0006676 Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. SNOMEDCT_US:991002 UMLS:C0235475 Intraventricular conduction delay Prolonged QRS complex on EKG QRS widening human_phenotype HP:0006677 Prolonged QRS complex HP:0006677 Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. https://orcid.org/0000-0002-0736-9199 true HP:0006678 Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. UMLS:C4025007 human_phenotype HP:0006679 A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). Granulomatous coronary arteritis HP:0006679 Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. PMID:937513 https://orcid.org/0000-0002-0736-9199 true HP:0006680 UMLS:C4025006 human_phenotype HP:0006681 Absent atrioventricular node HP:0006681 Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. HP:0006678 HP:0034041 SNOMEDCT_US:17338001 SNOMEDCT_US:251175005 UMLS:C0151636 Extra heart beat Premature ventricular beat Premature ventricular contractions Ventricular ectopics Ventricular extrasystoles Ventricular premature beat human_phenotype Missed heartbeat Skipped heartbeat HP:0006682 A premature ventricular contraction (PVC) may be perceived as a skipped beat or as palpitations. Although they may cause symptoms such as palpitations or dizziness, incidental PVCs are generally considered benign. Highly frequent PVCs, however, can have detrimental effects on the left ventricular function over time and may cause or worsen heart failure. During a PVC, the heartbeat is initiated by the Purkinje fibers rather than the SA node. Given that a PVC occurs before a regular heartbeat, there is a pause before the next regular heartbeat. PVCs can occur in isolation or in repeated patterns. Two consecutive PVCs are termed doublets while three consecutive PVCs are named triplets. It is important to note that three or more consecutive PVCs are classified as ventricular tachycardia. Premature ventricular contraction HP:0006682 Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. PMID:30422584 PMID:32063472 PMID:32528299 https://orcid.org/0000-0002-0736-9199 Extra heart beat Premature ventricular contractions Ventricular extrasystoles Missed heartbeat Skipped heartbeat An abnormality of filling of a ventricle with blood during diastole. UMLS:C4025005 human_phenotype HP:0006683 Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. Abnormal ventricular filling HP:0006683 An abnormality of filling of a ventricle with blood during diastole. https://orcid.org/0000-0002-0736-9199 A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. UMLS:C4025004 human_phenotype HP:0006684 Ventricular preexcitation with multiple accessory pathways HP:0006684 A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. https://orcid.org/0000-0002-0736-9199 The presence of excessive connective tissue in the endocardium. HP:0005169 SNOMEDCT_US:398716006 UMLS:C0553980 Endomyocardial fibrosis human_phenotype HP:0006685 Endocardial fibrosis HP:0006685 The presence of excessive connective tissue in the endocardium. PMID:29043203 https://orcid.org/0000-0002-0736-9199 true HP:0006686 Abnormal tortuous (i.e., twisted) form of the aorta. UMLS:C4025003 human_phenotype HP:0006687 Aortic tortuosity HP:0006687 Abnormal tortuous (i.e., twisted) form of the aorta. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:12026006 UMLS:C0039236 human_phenotype HP:0006688 Paroxysmal tachycardia HP:0006688 A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. 2010-12-27T02:57:48Z SNOMEDCT_US:301183007 UMLS:C0014121 Infective endocarditis human_phenotype HP:0006689 Bacterial endocarditis HP:0006689 A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. https://orcid.org/0009-0006-4530-3154 Infective endocarditis https://orcid.org/0000-0001-6908-9849 Calcium deposition in the myocardium. Fyler:1889 UMLS:C1096561 Calcified myocardium human_phenotype HP:0006690 Calcification affecting the muscle layer of the heart. Myocardial calcification HP:0006690 Calcium deposition in the myocardium. https://orcid.org/0000-0002-0736-9199 A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve. UMLS:C4025002 human_phenotype HP:0006691 Pulmonic valve myxoma HP:0006691 A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve. PMID:35420369 Abnormally short chordae tendineae of the tricuspid valve. UMLS:C4025001 human_phenotype HP:0006692 The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve. Short chordae tendineae of the tricuspid valve HP:0006692 Abnormally short chordae tendineae of the tricuspid valve. https://orcid.org/0000-0002-0736-9199 Steatosis in the myocardium. UMLS:C4025000 human_phenotype HP:0006693 Myocardial steatosis HP:0006693 Steatosis in the myocardium. https://orcid.org/0000-0002-0736-9199 UMLS:C4024999 human_phenotype HP:0006694 Early progressive calcific cardiac valvular disease HP:0006694 A defect of the atrioventricular septum of the heart. HP:0005139 HP:0005298 HP:0010439 Hole in center of heart Hole in centre of heart Fyler:0606 Fyler:1100 Fyler:606 SNOMEDCT_US:15459006 UMLS:C0014116 UMLS:C1389016 Atrioventricular septal defect Endocardial cushion defect human_phenotype HP:0006695 During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. Atrioventricular canal defect HP:0006695 A defect of the atrioventricular septum of the heart. PMID:12632326 https://orcid.org/0000-0002-0736-9199 Hole in center of heart https://orcid.org/0000-0002-6548-5200 Hole in centre of heart UMLS:C4024998 human_phenotype HP:0006696 Polymorphic and polytopic ventricular extrasystoles HP:0006696 true HP:0006697 A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. SNOMEDCT_US:90539001 UMLS:C0392464 Ventricular aneurysm human_phenotype HP:0006698 Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. Dilatation of the ventricular cavity HP:0006698 A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. https://orcid.org/0000-0002-0736-9199 A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. SNOMEDCT_US:284470004 SNOMEDCT_US:287057009 SNOMEDCT_US:406461004 SNOMEDCT_US:63593006 UMLS:C0033036 Atrial ectopic beats Atrial premature complex Ectopic supraventricular rhythms PACs Premature supraventricular beats human_phenotype HP:0006699 Premature atrial contractions HP:0006699 PACs true HP:0006700 true HP:0006701 Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. UMLS:C1852540 human_phenotype HP:0006702 Coronary artery dissection HP:0006702 Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. PMID:20448134 https://orcid.org/0000-0002-0736-9199 2008-03-29T03:17:00Z UMLS:C4024996 Absent/small lungs Absent/underdeveloped lungs human_phenotype HP:0006703 Aplasia/Hypoplasia of the lungs HP:0006703 Absent/small lungs https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped lungs https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the coronary arteries. 2008-03-29T03:33:00Z Fyler:3100 SNOMEDCT_US:28574005 UMLS:C0158623 human_phenotype HP:0006704 Abnormal coronary artery morphology HP:0006704 Any structural abnormality of the coronary arteries. https://orcid.org/0000-0002-0736-9199 An abnormality of an atrioventricular valve. 2008-03-29T03:34:00Z HP:0006675 UMLS:C4024995 Abnormality of the atrioventricular valves human_phenotype HP:0006705 Abnormal atrioventricular valve morphology HP:0006705 An abnormality of an atrioventricular valve. https://orcid.org/0000-0002-0736-9199 2008-03-29T03:37:00Z SNOMEDCT_US:72925005 UMLS:C0158683 human_phenotype HP:0006706 Cystic liver disease HP:0006706 An abnormality of the hepatic vasculature. 2008-03-29T03:41:00Z UMLS:C4024994 Abnormality of liver blood vessels Abnormality of the liver vasculature human_phenotype HP:0006707 Abnormality of the hepatic vasculature HP:0006707 An abnormality of the hepatic vasculature. https://orcid.org/0000-0002-0736-9199 Abnormality of liver blood vessels https://orcid.org/0000-0001-5208-3432 true HP:0006708 2008-03-29T03:51:00Z HP:0006602 HP:0006669 UMLS:C3150086 Absent/rudimentary nipples Absent/small nipples Absent/underdeveloped nipples Nipples absent or rudimentary human_phenotype HP:0006709 Aplasia/Hypoplasia of the nipples HP:0006709 Absent/small nipples https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped nipples https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the clavicles (collar bones). 2008-03-29T03:53:00Z UMLS:C4024993 Absent/small collarbone Absent/underdeveloped collarbone human_phenotype HP:0006710 Aplasia/Hypoplasia of the clavicles HP:0006710 Absence or underdevelopment of the clavicles (collar bones). https://orcid.org/0000-0002-0736-9199 Absent/small collarbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped collarbone https://orcid.org/0000-0001-5208-3432 2008-03-29T03:53:00Z UMLS:C4024992 Absent/small outermost thorax bone Absent/underdeveloped thorax bone human_phenotype HP:0006711 Aplasia/Hypoplasia involving bones of the thorax HP:0006711 Absent/small outermost thorax bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thorax bone https://orcid.org/0000-0001-5208-3432 2008-03-29T03:54:00Z HP:0006636 UMLS:C1847363 Absent/small ribs Absent/underdeveloped ribs Hypoplastic or missing ribs human_phenotype HP:0006712 Aplasia/Hypoplasia of the ribs HP:0006712 Absent/small ribs https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ribs https://orcid.org/0000-0001-5208-3432 2008-03-29T03:58:00Z UMLS:C4024991 Absent/small shoulder blade Absent/underdeveloped shoulder blade human_phenotype HP:0006713 Aplasia/Hypoplasia of the scapulae HP:0006713 Absent/small shoulder blade https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped shoulder blade https://orcid.org/0000-0001-5208-3432 2008-03-29T04:01:00Z UMLS:C4024990 Absent/small sternum Absent/underdeveloped sternum human_phenotype HP:0006714 Aplasia/Hypoplasia of the sternum HP:0006714 Absent/small sternum https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped sternum https://orcid.org/0000-0001-5208-3432 HP:0002892 UMLS:C1866555 Tympanic nerve tumor Tympanic nerve tumors Tympanic nerve tumour Tympanic nerve tumours human_phenotype HP:0006715 Glomus tympanicum paraganglioma HP:0006715 Tympanic nerve tumour Tympanic nerve tumours UMLS:C4024989 human_phenotype HP:0006716 Hereditary nonpolyposis colorectal carcinoma HP:0006716 SNOMEDCT_US:254764001 UMLS:C3489398 human_phenotype HP:0006717 Peripheral neuroepithelioma HP:0006717 true HP:0006718 SNOMEDCT_US:92118007 UMLS:C0497538 Benign GI tract tumors Benign GI tract tumours Benign gastrointestinal tract tumours Non-cancerous GI tumors Non-cancerous GI tumours human_phenotype HP:0006719 Benign gastrointestinal tract tumors HP:0006719 Benign GI tract tumors Benign GI tract tumours Benign gastrointestinal tract tumours Non-cancerous GI tumors https://orcid.org/0000-0001-9114-8737 Non-cancerous GI tumours true HP:0006720 A form of acute leukemia characterized by excess lympoblasts. HP:0004803 HP:0005555 SNOMEDCT_US:128822004 SNOMEDCT_US:91857003 UMLS:C0023449 Acute lymphatic leukaemia Acute lymphatic leukemia Acute lymphoblastic leukaemia Acute lymphocytic leukaemia Acute lymphocytic leukemia Acute lymphoid leukaemia Acute lymphoid leukemia human_phenotype HP:0006721 Acute lymphoblastic leukemia HP:0006721 A form of acute leukemia characterized by excess lympoblasts. https://orcid.org/0000-0002-0736-9199 Acute lymphatic leukaemia Acute lymphoblastic leukaemia Acute lymphocytic leukaemia Acute lymphoid leukaemia UMLS:C1868072 human_phenotype HP:0006722 Small intestine carcinoid HP:0006722 UMLS:C4024988 human_phenotype HP:0006723 Intestinal carcinoid HP:0006723 true HP:0006724 The presence of an adenocarcinoma of the pancreas. NCIT:C2852 SNOMEDCT_US:700423003 UMLS:C0281361 human_phenotype HP:0006725 Pancreatic adenocarcinoma HP:0006725 The presence of an adenocarcinoma of the pancreas. https://orcid.org/0000-0002-0736-9199 true HP:0006726 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. SNOMEDCT_US:128824003 SNOMEDCT_US:277575008 UMLS:C1961099 human_phenotype HP:0006727 T-cell acute lymphoblastic leukemias HP:0006727 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. NCIT:C3183 true HP:0006728 A paraganglioma (previously referred to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional. NCIT:C3308 UMLS:C4024987 Retroperitoneal chemodectoma human_phenotype HP:0006729 The retroperitoneum is an anatomical space located behind the abdominal or peritoneal cavity. Abdominal organs that are not suspended by the mesentery and lie between the abdominal wall and parietal peritoneum are said to lie within the retroperitoneum. Several individual spaces make up the retroperitoneum. These spaces are the anterior pararenal space, posterior pararenal space, and the perirenal space. Retroperitoneal paraganglioma HP:0006729 A paraganglioma (previously referred to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional. PMID:31751047 true HP:0006730 The presence of an follicular adenocarcinoma of the thyroid gland. NCIT:C8054 SNOMEDCT_US:255028004 SNOMEDCT_US:28173006 SNOMEDCT_US:5257006 UMLS:C0206682 human_phenotype HP:0006731 Follicular thyroid carcinoma HP:0006731 The presence of an follicular adenocarcinoma of the thyroid gland. https://orcid.org/0000-0002-0736-9199 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. UMLS:C1336840 human_phenotype HP:0006732 Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). Papillary renal cell carcinoma type 2 HP:0006732 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. PMID:12429790 https://orcid.org/0000-0002-9113-2978 A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. SNOMEDCT_US:17788007 SNOMEDCT_US:413443009 SNOMEDCT_US:91861009 UMLS:C0023467 AMegL Acute megakaryocytic leukaemia human_phenotype HP:0006733 Acute megakaryocytic leukemia HP:0006733 AMegL Acute megakaryocytic leukaemia true HP:0006734 The presence of an adenoma in the cortex of the kidney. NCIT:C2855 SNOMEDCT_US:254919009 UMLS:C0346253 Kidney cortical adenoma human_phenotype HP:0006735 Renal cortical adenoma HP:0006735 The presence of an adenoma in the cortex of the kidney. https://orcid.org/0000-0002-0736-9199 Kidney cortical adenoma https://orcid.org/0000-0001-5208-3432 true HP:0006736 Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. HP:0006764 UMLS:C1257877 Pheochromocytoma, extraadrenal human_phenotype HP:0006737 Extraadrenal pheochromocytoma HP:0006737 Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. https://orcid.org/0000-0002-0736-9199 true HP:0006738 Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. HP:0007614 SNOMEDCT_US:254651007 UMLS:C0553723 Squamous skin carcinoma human_phenotype HP:0006739 Squamous cell carcinoma of the skin HP:0006739 Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. https://orcid.org/0000-0002-0736-9199 The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. NCIT:C2930 SNOMEDCT_US:255109008 UMLS:C0279680 Transitional cell bladder carcinoma human_phenotype HP:0006740 Transitional cell carcinoma of the bladder HP:0006740 The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. https://orcid.org/0000-0002-0736-9199 true HP:0006741 UMLS:C4024986 human_phenotype HP:0006742 Congenital neuroblastoma HP:0006742 NCIT:C8971 SNOMEDCT_US:14269005 SNOMEDCT_US:404051002 UMLS:C0206656 human_phenotype HP:0006743 Embryonal rhabdomyosarcoma HP:0006743 A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. HP:0002889 HP:0006759 NCIT:C2916 SNOMEDCT_US:2227007 SNOMEDCT_US:255035007 UMLS:C0206686 Adrenal carcinoma Adrenal gland carinoma human_phenotype HP:0006744 Adrenocortical carcinoma HP:0006744 A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. https://orcid.org/0000-0002-0736-9199 true HP:0006745 true HP:0006746 SNOMEDCT_US:116381000119105 SNOMEDCT_US:69515008 UMLS:C0206718 human_phenotype HP:0006747 Ganglioneuroblastoma HP:0006747 Pheochromocytoma originating from the adrenal medulla. HP:0006752 NCIT:C3326 SNOMEDCT_US:302835009 SNOMEDCT_US:399343007 SNOMEDCT_US:85583005 UMLS:C0031511 Pheochromocytoma, adrenal Pheochromocytomas, adrenal human_phenotype HP:0006748 Adrenal pheochromocytoma HP:0006748 Pheochromocytoma originating from the adrenal medulla. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:428905002 UMLS:C0685938 Malignant GI tract tumors Malignant GI tract tumours Malignant gastrointestinal tract tumours human_phenotype HP:0006749 Malignant gastrointestinal tract tumors HP:0006749 Malignant GI tract tumors https://orcid.org/0000-0001-5208-3432 Malignant GI tract tumours Malignant gastrointestinal tract tumours true HP:0006750 A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine. UMLS:C4024985 Paraspinal neurofibromas human_phenotype HP:0006751 Paraspinal neurofibroma HP:0006751 Paraspinal neurofibromas true HP:0006752 A tumor (abnormal growth of tissue) of the stomach. NCIT:C3262 SNOMEDCT_US:126824007 UMLS:C0038356 UMLS:C4020813 Stomach tumor Stomach tumour human_phenotype Neoplasia of the stomach HP:0006753 Neoplasm of the stomach HP:0006753 A tumor (abnormal growth of tissue) of the stomach. https://orcid.org/0000-0002-0736-9199 Stomach tumor https://orcid.org/0000-0001-5208-3432 Stomach tumour true HP:0006754 The presence of leiomyosarcoma of the skin. NCIT:C3158 SNOMEDCT_US:254771006 UMLS:C0346067 human_phenotype HP:0006755 Cutaneous leiomyosarcoma HP:0006755 The presence of leiomyosarcoma of the skin. https://orcid.org/0000-0002-0736-9199 UMLS:C4024984 human_phenotype HP:0006756 Diffuse leiomyomatosis HP:0006756 true HP:0006757 The presence of a malignant neoplasm of the genital system. UMLS:C1834728 Malignant GU tract tumor Malignant GU tract tumour Malignant genitourinary tract tumour human_phenotype HP:0006758 Malignant genitourinary tract tumor HP:0006758 The presence of a malignant neoplasm of the genital system. https://orcid.org/0000-0002-0736-9199 Malignant GU tract tumor Malignant GU tract tumour Malignant genitourinary tract tumour true HP:0006759 true HP:0006760 true HP:0006761 The presence of a carcinoma in the renal pelvis. NCIT:C2916 UMLS:C4024983 human_phenotype HP:0006762 Renal pelvic carcinoma HP:0006762 The presence of a carcinoma in the renal pelvis. https://orcid.org/0000-0002-0736-9199 UMLS:C4024982 human_phenotype HP:0006763 Anal canal squamous carcinoma HP:0006763 true HP:0006764 A slowly growing malignant neoplasm derived from cartilage cells. NCIT:C2946 SNOMEDCT_US:14990007 SNOMEDCT_US:443520009 UMLS:C0008479 human_phenotype HP:0006765 Chondrosarcoma HP:0006765 A slowly growing malignant neoplasm derived from cartilage cells. https://orcid.org/0000-0002-0736-9199 The presence of renal cell carcinoma in the renal papilla. HP:0006776 NCIT:C2916 UMLS:C1306837 human_phenotype HP:0006766 Papillary renal cell carcinoma HP:0006766 The presence of renal cell carcinoma in the renal papilla. https://orcid.org/0000-0002-0736-9199 A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. HP:0040278 SNOMEDCT_US:134209002 SNOMEDCT_US:34337008 UMLS:C0033375 Pituitary prolactinoma Prolactin-secreting pituitary adenoma Prolactinoma human_phenotype HP:0006767 Pituitary prolactin cell adenoma HP:0006767 A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. https://orcid.org/0000-0002-0538-4547 UMLS:C4024981 Localised neuroblastoma human_phenotype HP:0006768 Localized neuroblastoma HP:0006768 Localised neuroblastoma UMLS:C1834421 Myxoid subcutaneous tumours human_phenotype HP:0006769 Myxoid subcutaneous tumors HP:0006769 Myxoid subcutaneous tumours A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. SNOMEDCT_US:188251003 SNOMEDCT_US:254915003 SNOMEDCT_US:41607009 UMLS:C0279702 Nonpapillary renal cell carcinoma human_phenotype HP:0006770 Clear cell renal cell carcinoma HP:0006770 A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. https://orcid.org/0000-0002-9113-2978 A malignant epithelial tumor with a glandular organization that originates in the duodenum. NCIT:C2852 SNOMEDCT_US:254570009 SNOMEDCT_US:408644002 UMLS:C0278804 UMLS:C0541912 human_phenotype Duodenal cancer HP:0006771 Duodenal adenocarcinoma HP:0006771 A malignant epithelial tumor with a glandular organization that originates in the duodenum. https://orcid.org/0000-0002-0736-9199 Duodenal cancer https://orcid.org/0000-0001-6908-9849 A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. HP:0100873 NCIT:C3734 SNOMEDCT_US:254921004 UMLS:C0241961 Angiomyolipoma Kidney angiomyolipoma human_phenotype HP:0006772 Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Renal angiomyolipoma HP:0006772 A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. https://orcid.org/0000-0002-0736-9199 Kidney angiomyolipoma https://orcid.org/0000-0001-6908-9849 NCIT:C3733 UMLS:C4024980 human_phenotype HP:0006773 Cutaneous angiolipomas HP:0006773 The presence of a papillary adenocarcinoma of the ovary. NCIT:C2853 UMLS:C4024979 human_phenotype HP:0006774 Ovarian papillary adenocarcinoma HP:0006774 The presence of a papillary adenocarcinoma of the ovary. https://orcid.org/0000-0002-0736-9199 A malignant plasma cell tumor growing within soft tissue or within the skeleton. SNOMEDCT_US:10639003 SNOMEDCT_US:109989006 SNOMEDCT_US:415112005 SNOMEDCT_US:55921005 UMLS:C0026764 UMLS:C0032131 human_phenotype Kahler's disease Plasmocytoma HP:0006775 Multiple myeloma HP:0006775 A malignant plasma cell tumor growing within soft tissue or within the skeleton. https://orcid.org/0009-0006-4530-3154 Kahler's disease https://orcid.org/0000-0001-6908-9849 true HP:0006776 true HP:0006777 A non-malignant neoplasm of the genitourinary system. UMLS:C3804991 Benign GU tract neoplasm Benign genitourinary tract tumor Benign genitourinary tract tumour human_phenotype HP:0006778 Benign genitourinary tract neoplasm HP:0006778 A non-malignant neoplasm of the genitourinary system. https://orcid.org/0000-0002-0736-9199 Benign GU tract neoplasm Benign genitourinary tract tumour NCIT:C3749 SNOMEDCT_US:404053004 SNOMEDCT_US:63449009 UMLS:C0206655 human_phenotype HP:0006779 Alveolar rhabdomyosarcoma HP:0006779 A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. NCIT:C2916 SNOMEDCT_US:255037004 SNOMEDCT_US:363481002 UMLS:C0687150 Parathyroid Cancer human_phenotype HP:0006780 Parathyroid carcinoma HP:0006780 A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. https://orcid.org/0000-0002-0736-9199 A kind of thyroid adenoma characterized by the presence of oxyphil cells. UMLS:C1336750 human_phenotype HP:0006781 Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. Hurthle cell thyroid adenoma HP:0006781 A kind of thyroid adenoma characterized by the presence of oxyphil cells. https://orcid.org/0000-0002-0736-9199 UMLS:C1851585 human_phenotype HP:0006782 Malignant eosinophil proliferation HP:0006782 UMLS:C1848389 human_phenotype HP:0006783 Posterior pharyngeal cleft HP:0006783 Underdevelopment of the paranasal sinuses. Small paranasal sinus UMLS:C2749161 UMLS:C4280256 UMLS:C4280441 UMLS:C4280442 Decreased size of paranasal sinus Decreased volume of paranasal sinus Underdevelopment of paranasal sinus Decreased growth of paranasal sinus Decreased pneumatization of paranasal sinus human_phenotype Atelectasis of paranasal sinus Hypotrophic paranasal sinus HP:0006784 Paranasal sinus hypoplasia HP:0006784 Underdevelopment of the paranasal sinuses. https://orcid.org/0000-0002-0736-9199 Small paranasal sinus https://orcid.org/0000-0001-5889-4463 Decreased size of paranasal sinus https://orcid.org/0000-0001-5889-4463 Decreased volume of paranasal sinus https://orcid.org/0000-0001-5889-4463 Underdevelopment of paranasal sinus https://orcid.org/0000-0001-5889-4463 Decreased growth of paranasal sinus https://orcid.org/0000-0001-5889-4463 Decreased pneumatization of paranasal sinus https://orcid.org/0000-0001-5889-4463 Atelectasis of paranasal sinus https://orcid.org/0000-0001-5889-4463 Hypotrophic paranasal sinus https://orcid.org/0000-0001-5889-4463 Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). HP:0009066 SNOMEDCT_US:93153005 UMLS:C0686353 limb girdle muscular dystrophy human_phenotype HP:0006785 Limb-girdle muscular dystrophy HP:0006785 Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). https://orcid.org/0000-0002-0736-9199 true HP:0006786 true HP:0006787 true HP:0006788 UMLS:C1852373 human_phenotype HP:0006789 Mitochondrial encephalopathy HP:0006789 UMLS:C1857934 human_phenotype HP:0006790 Cerebral cortex with spongiform changes HP:0006790 true HP:0006791 true HP:0006792 true HP:0006793 UMLS:C1846133 Loss of ability to walk in first decade human_phenotype HP:0006794 Loss of ability to walk in first decade HP:0006794 Loss of ability to walk in first decade true HP:0006795 true HP:0006796 true HP:0006797 true HP:0006798 HP:0007244 UMLS:C1837251 Cystic lesions in the basal ganglia human_phenotype HP:0006799 Basal ganglia cysts HP:0006799 true HP:0006800 HP:0007259 UMLS:C1846176 human_phenotype HP:0006801 Hyperactive deep tendon reflexes HP:0006801 Any anomaly of the anterior horn cell. Abnormality of the anterior horn cell SNOMEDCT_US:85672005 UMLS:C0154681 UMLS:C4020812 Abnormality of the anterior horn cells Anomaly of the anterior horn cells Anterior horn cell disease human_phenotype HP:0006802 Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. Abnormal anterior horn cell morphology HP:0006802 Any anomaly of the anterior horn cell. https://orcid.org/0000-0002-0736-9199 Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment. UMLS:C4024978 human_phenotype HP:0006803 Vivid hallucination HP:0006803 true HP:0006804 true HP:0006805 true HP:0006806 true HP:0006807 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. UMLS:C2677328 Hypomyelination of the brain human_phenotype HP:0006808 Cerebral hypomyelination HP:0006808 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0006809 true HP:0006810 true HP:0006811 An anomaly of the white matter of the brain localized in the region posterior to the cerebral ventricles. UMLS:C1836525 White matter abnormalities in the posterior periventricular region human_phenotype HP:0006812 Abnormal posterior periventricular white matter morphology HP:0006812 A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. UMLS:C1846620 Hemiclonic seizure Hemiclonic seizures Unilateral clonic seizure Unilateral clonic seizures human_phenotype HP:0006813 A seizure type typically occurring in certain epilepsy syndromes, such as Dravet syndrome and self-limited neonatal seizures. Focal hemiclonic seizure HP:0006813 Hemiclonic seizures Unilateral clonic seizures true HP:0006814 true HP:0006815 true HP:0006816 Absence or underdevelopment of the vermis of cerebellum. HP:0005690 HP:0007080 UMLS:C1855676 UMLS:C3280770 Cerebellar vermis aplasia/hypoplasia Hypo/aplastic vermis human_phenotype Cerebellar vermis aplasia or hypoplasia HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 Absence or underdevelopment of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 Cerebellar vermis aplasia or hypoplasia https://orcid.org/0000-0002-5316-1399 A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. SNOMEDCT_US:253147000 UMLS:C0431375 Classic lissencephaly Four-layered lissencephaly Lissencephaly, type I Type 1 lissencephaly Type I lissencephaly human_phenotype HP:0006818 4-layered lissencephaly HP:0006818 A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. PMID:28440899 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 Classic lissencephaly https://orcid.org/0000-0001-6908-9849 true HP:0006819 true HP:0006820 A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. UMLS:C1847356 Polymicrogyria, anterior to posterior gradient human_phenotype HP:0006821 Frontal polymicrogyria HP:0006821 A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. PMID:20301504 http://www.wikidata.org/entity/Q90573458 true HP:0006822 true HP:0006823 HP:0001353 HP:0002377 SNOMEDCT_US:73013002 UMLS:C0151311 UMLS:C4025709 Cranial nerve palsies Cranial nerve palsy Cranial nerve paresis human_phenotype HP:0006824 Cranial nerve paralysis HP:0006824 An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination. UMLS:C1865416 human_phenotype HP:0006825 Pallor of dorsal columns of the spinal cord HP:0006825 true HP:0006826 UMLS:C1389102 Degeneration of the spinal cord human_phenotype HP:0006827 Atrophy of the spinal cord HP:0006827 Degeneration of the spinal cord https://orcid.org/0000-0001-5208-3432 true HP:0006828 A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. HP:0002347 UMLS:C1839630 Hypotonia, severe Severely decreased muscle tone human_phenotype HP:0006829 Severe muscular hypotonia HP:0006829 A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. https://orcid.org/0000-0002-0736-9199 Severely decreased muscle tone https://orcid.org/0000-0002-6548-5200 HP:0001319 human_phenotype HP:0006830 obsolete Severe neonatal hypotonia in males true HP:0006830 true HP:0006831 true HP:0006832 true HP:0006833 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. UMLS:C1836829 human_phenotype HP:0006834 Developmental stagnation at onset of seizures HP:0006834 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. https://orcid.org/0000-0002-0736-9199 true HP:0006835 true HP:0006836 A type of Horner syndrome with congenital onset. UMLS:C1840475 human_phenotype HP:0006837 Congenital Horner syndrome HP:0006837 A type of Horner syndrome with congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0006838 true HP:0006839 true HP:0006840 true HP:0006841 true HP:0006842 true HP:0006843 Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. SNOMEDCT_US:274817009 UMLS:C0558844 Absent knee jerk reflex human_phenotype HP:0006844 Absent patellar reflexes HP:0006844 Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. https://orcid.org/0000-0002-0736-9199 Absent knee jerk reflex https://orcid.org/0000-0001-6908-9849 true HP:0006845 SNOMEDCT_US:2776000 UMLS:C1306587 human_phenotype HP:0006846 Acute encephalopathy HP:0006846 true HP:0006847 true HP:0006848 Developmental defect characterized by a small and malformed corpus callosum. UMLS:C1850348 human_phenotype HP:0006849 Hypodysplasia of the corpus callosum HP:0006849 Underdevelopment of the ventral portion of the pons. UMLS:C1843507 Underdeveloped ventral pons human_phenotype HP:0006850 Hypoplasia of the ventral pons HP:0006850 Underdevelopment of the ventral portion of the pons. https://orcid.org/0000-0002-0736-9199 Underdeveloped ventral pons https://orcid.org/0000-0001-6908-9849 Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. UMLS:C1834236 Spinal nerve root neurofibromas, symmetric, multiple human_phenotype HP:0006851 Symmetric spinal nerve root neurofibromas HP:0006851 Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. https://orcid.org/0000-0002-0736-9199 The occurrence of repeated episodes of generalized muscular hypotonia. UMLS:C4024976 Episodic generalised hypotonia human_phenotype HP:0006852 Episodic generalized hypotonia HP:0006852 The occurrence of repeated episodes of generalized muscular hypotonia. https://orcid.org/0000-0002-0736-9199 Episodic generalised hypotonia true HP:0006853 true HP:0006854 Wasting (atrophy) of the vermis of cerebellum. HP:0007121 HP:0007312 UMLS:C0742028 Atrophy of cerebellar vermis Atrophy of the cerebellar vermis Vermian atrophy human_phenotype HP:0006855 This sign can be visualized with brain MRI. Cerebellar vermis atrophy HP:0006855 Wasting (atrophy) of the vermis of cerebellum. https://orcid.org/0000-0002-0736-9199 true HP:0006856 true HP:0006857 A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints. HP:0007056 HP:0007148 UMLS:C4021585 Distal sensory loss of proprioception human_phenotype HP:0006858 Impaired distal proprioception HP:0006858 A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints. https://orcid.org/0000-0002-0736-9199 UMLS:C4024975 human_phenotype HP:0006859 Posterior leukoencephalopathy HP:0006859 true HP:0006860 true HP:0006861 true HP:0006862 A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. SNOMEDCT_US:62221000119105 UMLS:C1851085 human_phenotype HP:0006863 Severe expressive language delay HP:0006863 A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. https://orcid.org/0000-0002-6410-0882 true HP:0006864 UMLS:C4024974 human_phenotype HP:0006865 Sensorimotor polyneuropathy affecting arms more than legs HP:0006865 UMLS:C4024973 Midline CNS lipomas human_phenotype HP:0006866 Midline central nervous system lipomas HP:0006866 Midline CNS lipomas true HP:0006867 true HP:0006868 true HP:0006869 A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. SNOMEDCT_US:253136007 UMLS:C0431362 human_phenotype HP:0006870 Lobar holoprosencephaly HP:0006870 A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. HPO_CONTRIBUTOR:GC_HPE true HP:0006871 Underdevelopment of the cerebrum. HP:0001322 UMLS:C1855330 Small cerebrum Underdeveloped cerebrum human_phenotype HP:0006872 Cerebral hypoplasia HP:0006872 Underdevelopment of the cerebrum. https://orcid.org/0000-0002-0736-9199 Small cerebrum https://orcid.org/0000-0001-5208-3432 Underdeveloped cerebrum https://orcid.org/0000-0001-5208-3432 A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024972 human_phenotype HP:0006873 Symmetrical progressive peripheral demyelination HP:0006873 A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0006874 true HP:0006875 true HP:0006876 HP:0001249 human_phenotype HP:0006877 obsolete Mental retardation, in some true HP:0006877 true HP:0006878 Atrophy affecting the pons and the cerebellum. UMLS:C1853766 Cerebellopontine atrophy human_phenotype HP:0006879 Pontocerebellar atrophy HP:0006879 Atrophy affecting the pons and the cerebellum. https://orcid.org/0000-0002-0736-9199 A hemangioblastoma of the cerebellum. HP:0006761 NCIT:C3801 UMLS:C1332900 Hemangioblastoma, sporadic cerebellar human_phenotype HP:0006880 Cerebellar hemangioblastoma HP:0006880 A hemangioblastoma of the cerebellum. https://orcid.org/0000-0002-0736-9199 A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024971 human_phenotype HP:0006881 Diffuse peripheral demyelination HP:0006881 A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 UMLS:C3278123 human_phenotype HP:0006882 Severe hydrocephalus HP:0006882 true HP:0006883 true HP:0006884 true HP:0006885 A decrease in the ability to perceive vibration in the distal portions of the limbs. UMLS:C1853767 Decreased distal vibration sense human_phenotype HP:0006886 Impaired distal vibration sensation HP:0006886 A decrease in the ability to perceive vibration in the distal portions of the limbs. https://orcid.org/0000-0002-0736-9199 HP:0001249 human_phenotype HP:0006887 obsolete Intellectual disability, progressive true HP:0006887 SNOMEDCT_US:52330001 UMLS:C0266456 human_phenotype HP:0006888 Meningoencephalocele HP:0006888 Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. SNOMEDCT_US:77287004 UMLS:C0006009 Intellectual disability, borderline Mental retardation, borderline human_phenotype HP:0006889 We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification. Borderline intellectual disability HP:0006889 Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. PMID:20537050 https://orcid.org/0000-0002-0736-9199 Intellectual disability, borderline Mental retardation, borderline true HP:0006890 UMLS:C4024970 human_phenotype HP:0006891 Thick cerebral cortex HP:0006891 Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. UMLS:C4021584 Cerebral atrophy, frontotemporal human_phenotype HP:0006892 Frontotemporal cerebral atrophy HP:0006892 Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. https://orcid.org/0000-0002-0736-9199 HP:0007033 human_phenotype HP:0006893 Use Cerebellar dysplasia (HP:0007033) with the modifier Severe. obsolete Severely dysplastic cerebellum true HP:0006893 UMLS:C1859231 human_phenotype HP:0006894 Hypoplastic olfactory lobes HP:0006894 UMLS:C1845245 human_phenotype HP:0006895 Lower limb hypertonia HP:0006895 Hallucinations occurring during the transition from sleep to wakefulness. SNOMEDCT_US:69690008 UMLS:C0424082 Hallucinations while awaking human_phenotype HP:0006896 Hypnopompic hallucination HP:0006896 Hallucinations occurring during the transition from sleep to wakefulness. PMID:27872259 Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. HP:0011349 SNOMEDCT_US:398760006 SNOMEDCT_US:398925009 SNOMEDCT_US:398963001 UMLS:C0271355 Abducens nerve palsy Abducens nerve paralysis Abducens nerve paresis Cranial nerve VI palsy Lateral rectus muscle denervation paresis Sixth nerve palsy human_phenotype HP:0006897 Affected individuals may experience diplopia as well as esotropia or convergent strabismus. Abducens palsy HP:0006897 Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. PMID:29489275 Abducens nerve palsy https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abducens nerve paralysis https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abducens nerve paresis https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Lateral rectus muscle denervation paresis https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 true HP:0006898 UMLS:C1866131 human_phenotype HP:0006899 Fusion of the cerebellar hemispheres HP:0006899 true HP:0006900 HP:0010829 human_phenotype HP:0006901 obsolete Impaired thermal sensitivity true HP:0006901 true HP:0006902 UMLS:C4024967 human_phenotype HP:0006903 Congenital peripheral neuropathy HP:0006903 UMLS:C1856604 human_phenotype HP:0006904 Late-onset spinocerebellar degeneration HP:0006904 true HP:0006905 The presence of calcium deposition within brain structures that is present already at the time of birth. UMLS:C4024966 human_phenotype HP:0006906 Congenital intracerebral calcification HP:0006906 The presence of calcium deposition within brain structures that is present already at the time of birth. https://orcid.org/0000-0002-0736-9199 true HP:0006907 true HP:0006908 true HP:0006909 true HP:0006910 true HP:0006911 true HP:0006912 Atrophy of the frontal cortex. UMLS:C4024965 Frontal cortex degeneration human_phenotype HP:0006913 Frontal cortical atrophy HP:0006913 Atrophy of the frontal cortex. https://orcid.org/0000-0002-0736-9199 Frontal cortex degeneration https://orcid.org/0000-0001-5208-3432 true HP:0006914 UMLS:C1859200 Inability to walk by childhood/adolescence human_phenotype HP:0006915 Inability to walk by childhood/adolescence HP:0006915 Inability to walk by childhood/adolescence Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. UMLS:C1832339 UMLS:C4024964 human_phenotype Intraaxonal accumulation of curvilinear profiles HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material HP:0006916 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. https://orcid.org/0000-0002-0736-9199 true HP:0006917 SNOMEDCT_US:49692006 UMLS:C0007795 human_phenotype HP:0006918 Diffuse cerebral sclerosis HP:0006918 HP:0000718 human_phenotype HP:0006919 obsolete Abnormal aggressive, impulsive or violent behavior true HP:0006919 true HP:0006920 Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. UMLS:C4024962 human_phenotype HP:0006921 Axial muscle stiffness HP:0006921 Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. https://orcid.org/0000-0002-0736-9199 true HP:0006922 true HP:0006923 true HP:0006924 true HP:0006925 HP:0002415 human_phenotype HP:0006926 obsolete Metachromatic leukodystrophy variant true HP:0006926 Excessive number of small gyri (convolutions) on the surface of one side of the brain. SNOMEDCT_US:715905006 UMLS:C4024960 human_phenotype HP:0006927 Unilateral polymicrogyria HP:0006927 Excessive number of small gyri (convolutions) on the surface of one side of the brain. https://orcid.org/0000-0002-0736-9199 true HP:0006928 Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. SNOMEDCT_US:64624009 UMLS:C0149877 human_phenotype HP:0006929 Hypoglycemic encephalopathy HP:0006929 Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. https://orcid.org/0000-0002-0736-9199 The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. UMLS:C4024959 human_phenotype HP:0006930 Frontoparietal cortical dysplasia HP:0006930 The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. https://orcid.org/0000-0002-0736-9199 Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain. UMLS:C1333160 Lipoma of corpus callosum human_phenotype HP:0006931 Pericallosal lipoma HP:0006931 Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain. PMID:30104143 https://orcid.org/0000-0002-3302-4610 Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event. UMLS:C4024958 Brief psychotic episodes Brief reactive psychosis human_phenotype HP:0006932 Transient psychotic episodes HP:0006932 true HP:0006933 Nystagmus dating from or present at birth. SNOMEDCT_US:64635004 UMLS:C0700501 human_phenotype Nystagmus, congenital HP:0006934 Congenital nystagmus HP:0006934 Nystagmus dating from or present at birth. https://orcid.org/0000-0002-0736-9199 Nystagmus, congenital https://orcid.org/0000-0002-5316-1399 true HP:0006935 true HP:0006936 A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. HP:0006981 UMLS:C4021583 Decreased distal touch sense Decreased touch sensation in extremities human_phenotype HP:0006937 Impaired distal tactile sensation HP:0006937 A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. https://orcid.org/0000-0002-0736-9199 Decreased touch sensation in extremities https://orcid.org/0000-0002-6548-5200 A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. HP:0007144 UMLS:C1854372 Decreased vibration sense at ankles Decreased vibration sense in feet Impaired vibration sensation at ankles human_phenotype HP:0006938 Impaired vibration sensation at ankles HP:0006938 A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. https://orcid.org/0000-0002-0736-9199 Decreased vibration sense at ankles Decreased vibration sense in feet Impaired vibration sensation at ankles true HP:0006939 true HP:0006940 true HP:0006941 true HP:0006942 UMLS:C1858857 human_phenotype HP:0006943 Diffuse spongiform leukoencephalopathy HP:0006943 A complete loss of the ability to perceive vibration. UMLS:C1837520 Apallesthesia human_phenotype HP:0006944 Abolished vibration sense HP:0006944 A complete loss of the ability to perceive vibration. https://orcid.org/0000-0002-0736-9199 true HP:0006945 An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. UMLS:C0746495 human_phenotype HP:0006946 Recurrent meningitis HP:0006946 An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. https://orcid.org/0000-0002-0736-9199 true HP:0006947 true HP:0006948 UMLS:C1848695 human_phenotype HP:0006949 Episodic peripheral neuropathy HP:0006949 true HP:0006950 UMLS:C1845370 human_phenotype HP:0006951 Retrocerebellar cyst HP:0006951 true HP:0006952 true HP:0006953 true HP:0006954 Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. HP:0007168 UMLS:C1859341 human_phenotype HP:0006955 Olivopontocerebellar hypoplasia HP:0006955 Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. https://orcid.org/0000-0002-0736-9199 HP:0006796 HP:0006945 HP:0007173 UMLS:C1856409 Dilatation of lateral cerebral ventricles Dilation of lateral ventricles Enlarged lateral ventricles Lateral ventricle dilatation human_phenotype HP:0006956 Lateral ventricle dilatation HP:0006956 HP:0002505 human_phenotype HP:0006957 obsolete Loss of ability to walk true HP:0006957 An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. HP:0003151 HP:0004462 HP:0006923 SNOMEDCT_US:102971006 UMLS:C0522216 Abnormal brainstem auditory-evoked potentials human_phenotype HP:0006958 Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. Abnormal auditory evoked potentials HP:0006958 An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. https://orcid.org/0000-0002-0736-9199 Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. UMLS:C4024957 human_phenotype HP:0006959 Proximal spinal muscular atrophy HP:0006959 Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. https://orcid.org/0000-0002-0736-9199 The presence of calcium deposition in the choroid plexus. UMLS:C1863184 Calcified choroid plexus human_phenotype HP:0006960 Choroid plexus calcification HP:0006960 The presence of calcium deposition in the choroid plexus. https://orcid.org/0000-0002-0736-9199 UMLS:C1855568 Head jerking Jerking head movements human_phenotype HP:0006961 Jerky head movements HP:0006961 Head jerking Jerking head movements UMLS:C1837016 Unstable walking, worse in the dark human_phenotype HP:0006962 Gait instability, worse in the dark HP:0006962 Unstable walking, worse in the dark https://orcid.org/0000-0001-5208-3432 true HP:0006963 UMLS:C1859863 human_phenotype HP:0006964 Cerebral cortical neurodegeneration HP:0006964 UMLS:C1855020 human_phenotype HP:0006965 Acute necrotizing encephalopathy HP:0006965 true HP:0006966 true HP:0006967 true HP:0006968 true HP:0006969 Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. SNOMEDCT_US:230769007 UMLS:C0023529 PVL human_phenotype HP:0006970 Periventricular leukomalacia is the leading known cause of cerebral palsy. Magnetic resonance imaging-based neuroimaging techniques provide greater diagnostic sensitivity for PVL than does head ultrasonography and often document the involvement of telencephalic gray matter and long tracts in addition to periventricular white matter. Periventricular leukomalacia HP:0006970 Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia. PMID:16808630 PMID:18852342 PMID:28406931 PVL true HP:0006971 true HP:0006972 true HP:0006973 true HP:0006974 true HP:0006975 A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. UMLS:C1396481 human_phenotype HP:0006976 The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. Necrotizing encephalopathy HP:0006976 A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue. HPO_CONTRIBUTOR:KI_phemming PMID:23705127 Deficit in grammar, including syntax and morphology. UMLS:C4024956 Grammar-specific speech disorder human_phenotype HP:0006977 Deficit in grammar HP:0006977 Grammar-specific speech disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 UMLS:C3278204 human_phenotype HP:0006978 Dysmyelinating leukodystrophy HP:0006978 Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. UMLS:C1833362 Internal-clock disorders Sleep phase disturbance Sleep-wake cycle disorders Sleep-wake cycle disturbance Sleep-wake mistiming human_phenotype HP:0006979 Often, patients complain of insomnia when their desired sleep-wake cycle is inconsistent with their intrinsic rhythms. Sleep-wake cycle disturbance HP:0006979 Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder. PMID:30725708 PMID:36115370 PMID:36872502 Sleep-wake cycle disturbance Leukoencephalopathy that gets more severe with time. UMLS:C1855010 Leukoencephalopathy, progressive human_phenotype HP:0006980 Progressive leukoencephalopathy HP:0006980 Leukoencephalopathy that gets more severe with time. https://orcid.org/0000-0002-0736-9199 true HP:0006981 true HP:0006982 HP:0002510 human_phenotype HP:0006983 obsolete Slowly progressive spastic quadriparesis true HP:0006983 HP:0003409 human_phenotype HP:0006984 obsolete Distal sensory loss of all modalities true HP:0006984 true HP:0006985 SNOMEDCT_US:394680009 UMLS:C1273957 Spastic upper extremities Spastic upper extremity Spastic upper limb Spastic upper limbs Spasticity in upper extremities Spasticity in upper extremity Spasticity in upper limb Spasticity in upper limbs Spasticity of upper extremities Spasticity of upper extremity Spasticity of upper limb Spasticity of upper limbs Uncontrollable movement in upper arms Upper extremities spasticity Upper extremity spasticity human_phenotype HP:0006986 Upper limb spasticity HP:0006986 Uncontrollable movement in upper arms https://orcid.org/0000-0001-5208-3432 true HP:0006987 A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. SNOMEDCT_US:253137003 UMLS:C0431363 human_phenotype HP:0006988 Alobar holoprosencephaly HP:0006988 A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. HPO_CONTRIBUTOR:GC_HPE Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. HP:0006996 UMLS:C0431369 Dysgenesis of corpus callosum Dysplasia of corpus callosum human_phenotype HP:0006989 Dysplastic corpus callosum HP:0006989 Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. PMID:21263138 https://orcid.org/0000-0002-0736-9199 A type of gliosis that occurs in the vicinity of injured neurons. UMLS:C4024954 human_phenotype HP:0006990 Myelin-dependent gliosis HP:0006990 A type of gliosis that occurs in the vicinity of injured neurons. https://orcid.org/0000-0002-0736-9199 true HP:0006991 UMLS:C1850961 human_phenotype HP:0006992 Anterior basal encephalocele HP:0006992 true HP:0006993 UMLS:C1868514 human_phenotype HP:0006994 Diffuse leukoencephalopathy HP:0006994 true HP:0006995 true HP:0006996 true HP:0006997 true HP:0006998 Focal proliferation of glial cells in the basal ganglia. UMLS:C1864114 UMLS:C2750915 Gliosis in the basal ganglia human_phenotype HP:0006999 Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. Basal ganglia gliosis HP:0006999 Focal proliferation of glial cells in the basal ganglia. https://orcid.org/0000-0002-0736-9199 UMLS:C1847164 human_phenotype HP:0007000 Morning myoclonic jerks HP:0007000 UMLS:C1849146 human_phenotype HP:0007001 Loss of Purkinje cells in the cerebellar vermis HP:0007001 Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. HP:0007349 UMLS:C1854570 UMLS:C2749625 UMLS:C4020811 human_phenotype Distal motor neuropathy Length dependent motor neuropathy HP:0007002 Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. Motor axonal neuropathy HP:0007002 Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. https://orcid.org/0000-0002-0736-9199 true HP:0007003 true HP:0007004 true HP:0007005 UMLS:C4024953 human_phenotype HP:0007006 Dorsal column degeneration HP:0007006 The formation of small cavities in the tissue of the basal ganglia. HP:0007246 UMLS:C4024952 human_phenotype HP:0007007 This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. Cavitation of the basal ganglia HP:0007007 The formation of small cavities in the tissue of the basal ganglia. PMID:8516046 https://orcid.org/0000-0002-0736-9199 true HP:0007008 UMLS:C3277687 CNS degeneration human_phenotype HP:0007009 Central nervous system degeneration HP:0007009 CNS degeneration An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. UMLS:C1867864 Fine motor disability Fine motor impairment Fine motor skill dysfunction Impaired fine motor skills human_phenotype HP:0007010 Poor fine motor coordination HP:0007010 Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. SNOMEDCT_US:20610004 UMLS:C0271375 Trochlear nerve palsy human_phenotype HP:0007011 The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Fourth cranial nerve palsy HP:0007011 Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. https://orcid.org/0000-0001-5208-3432 true HP:0007012 true HP:0007013 true HP:0007014 An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. UMLS:C1867863 Gross motor impairment human_phenotype HP:0007015 Poor gross motor coordination HP:0007015 UMLS:C1844007 human_phenotype HP:0007016 Corticospinal tract hypoplasia HP:0007016 Forgetfullness UMLS:C3277688 human_phenotype HP:0007017 Progressive forgetfulness HP:0007017 Forgetfullness Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. HP:0001576 HP:0001577 HP:0006973 SNOMEDCT_US:406506008 SNOMEDCT_US:7461003 UMLS:C1263846 ADHD Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder human_phenotype HP:0007018 Attention deficit hyperactivity disorder HP:0007018 Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. https://orcid.org/0000-0002-0736-9199 ADHD Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder true HP:0007019 HP:0006875 HP:0007255 UMLS:C1855483 human_phenotype HP:0007020 Progressive spastic paraplegia HP:0007020 Inability to perceive painful stimuli. HP:0003404 SNOMEDCT_US:38433004 UMLS:C0344307 Absence of pain sensation human_phenotype HP:0007021 The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain. Pain insensitivity HP:0007021 Inability to perceive painful stimuli. https://orcid.org/0000-0002-0736-9199 true HP:0007022 Cerebral hemorrhage that occurs before birth. UMLS:C1837247 Antenatal intracerebral haemorrhage human_phenotype HP:0007023 Antenatal intracerebral hemorrhage HP:0007023 Cerebral hemorrhage that occurs before birth. https://orcid.org/0000-0002-0736-9199 Antenatal intracerebral haemorrhage Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. HP:0002201 HP:0006819 SNOMEDCT_US:7379000 UMLS:C0033790 Pseudobulbar palsy Pseudobulbar syndrome human_phenotype HP:0007024 Pseudobulbar paralysis HP:0007024 Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. https://orcid.org/0009-0006-4530-3154 true HP:0007025 true HP:0007026 A morphological abnormality of the metencephalon. UMLS:C4024951 human_phenotype HP:0007027 The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. Poorly formed metencephalon HP:0007027 A morphological abnormality of the metencephalon. https://orcid.org/0000-0002-0736-9199 true HP:0007028 A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. SNOMEDCT_US:54002007 UMLS:C2713497 Cerebral saccular aneurysm human_phenotype HP:0007029 Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. Cerebral berry aneurysm HP:0007029 A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. https://orcid.org/0000-0002-0736-9199 UMLS:C4024950 human_phenotype HP:0007030 Nonprogressive encephalopathy HP:0007030 true HP:0007031 true HP:0007032 Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. HP:0006893 UMLS:C3278322 human_phenotype HP:0007033 Any part of the cerebellum can be dysplastic, from small focal regions within one hemisphere to abnormal foliation throughout the cerebellum. Hypoplastic cerebella are frequently also dysmorphic, as observed in tubulinopathies and cobblestone malformations. Cerebellar dysplasia HP:0007033 Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. PMID:25105227 PMID:27160001 https://orcid.org/0000-0002-0736-9199 UMLS:C4024949 Generalised hyperreflexia human_phenotype HP:0007034 Generalized hyperreflexia HP:0007034 Generalised hyperreflexia A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull. UMLS:C4024948 Sincipital encephalocele human_phenotype HP:0007035 Anterior encephalocele development occurs from abnormal development of the foramen cecum. A diverticulum of dura usually projects anteriorly between the developing nasal and frontal bones at the fonticulus frontalis/foramen cecum. Later in embryogenesis, the diverticulum regresses, and the bone closes. However, if it does not regress, the brain can herniate through the bone defect and form an encephalocele. Anterior encephalocele HP:0007035 A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull. PMID:22069427 PMID:32965839 UMLS:C1856655 Underdeveloped olfactory tract human_phenotype HP:0007036 Hypoplasia of olfactory tract HP:0007036 Underdeveloped olfactory tract https://orcid.org/0000-0001-5208-3432 true HP:0007037 true HP:0007038 A symmetric magnetic resonance imaing (MRI) abnormality of the basal ganglia characterized by an increase of signal intensity in T2-weighted images and a corresponding signal decrease on T1-weighted images. UMLS:C4024947 human_phenotype HP:0007039 Pathological processes characterized by increased tissue water content show signal loss on T1-weighted images and a signal increase on T2-weighted images. Symmetric T2-signal increase with T1-signal decrease in the putamen HP:0007039 A symmetric magnetic resonance imaing (MRI) abnormality of the basal ganglia characterized by an increase of signal intensity in T2-weighted images and a corresponding signal decrease on T1-weighted images. PMID:15210883 true HP:0007040 Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). SNOMEDCT_US:230154004 UMLS:C0393441 human_phenotype HP:0007041 Chronic lymphocytic meningitis HP:0007041 Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). PMID:27608867 UMLS:C4024946 human_phenotype HP:0007042 Focal white matter lesions HP:0007042 true HP:0007043 true HP:0007044 UMLS:C1855487 human_phenotype HP:0007045 Midline brain calcifications HP:0007045 true HP:0007046 Partial or complete wasting (loss) of dentate nucleus. UMLS:C1857788 human_phenotype HP:0007047 Atrophy of the dentate nucleus HP:0007047 Partial or complete wasting (loss) of dentate nucleus. https://orcid.org/0000-0002-0736-9199 Increased size of the basal ganglia. UMLS:C1859470 human_phenotype HP:0007048 Large basal ganglia HP:0007048 Increased size of the basal ganglia. https://orcid.org/0000-0002-0736-9199 true HP:0007049 true HP:0007050 true HP:0007051 UMLS:C1833434 human_phenotype HP:0007052 Multifocal cerebral white matter abnormalities HP:0007052 true HP:0007053 Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee). UMLS:C1836012 Hyperreflexia proximally human_phenotype HP:0007054 Proximal hyperreflexia HP:0007054 true HP:0007055 true HP:0007056 UMLS:C1845864 human_phenotype HP:0007057 Poor hand-eye coordination HP:0007057 Generalized atrophy or hypoplasia of the cerebrum. UMLS:C4024945 Generalised cerebral atrophy/hypoplasia Generalised cerebral degeneration/underdevelopment Generalized cerebral degeneration/underdevelopment human_phenotype HP:0007058 Generalized cerebral atrophy/hypoplasia HP:0007058 Generalized atrophy or hypoplasia of the cerebrum. https://orcid.org/0009-0006-4530-3154 Generalised cerebral atrophy/hypoplasia Generalised cerebral degeneration/underdevelopment Generalized cerebral degeneration/underdevelopment https://orcid.org/0000-0001-5208-3432 true HP:0007059 true HP:0007060 true HP:0007061 true HP:0007062 UMLS:C1857787 Absent inferior half of the cerebellar vermis human_phenotype HP:0007063 Aplasia of the inferior half of the cerebellar vermis HP:0007063 Absent inferior half of the cerebellar vermis https://orcid.org/0000-0001-5208-3432 Progressive loss of previously present language abilities. UMLS:C1843793 human_phenotype HP:0007064 Progressive language deterioration HP:0007064 Progressive loss of previously present language abilities. https://orcid.org/0000-0002-0736-9199 UMLS:C1845369 Disorganisation of the anterior cerebellar vermis human_phenotype HP:0007065 Disorganization of the anterior cerebellar vermis HP:0007065 Disorganisation of the anterior cerebellar vermis Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. UMLS:C1861460 human_phenotype HP:0007066 Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb Proximal limb muscle stiffness HP:0007066 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle. https://orcid.org/0000-0001-5208-3432 Peripheral sensory neuropathy affecting primarily distal sensation. UMLS:C4021582 Peripheral sensory neuropathy, distal human_phenotype HP:0007067 Distal peripheral sensory neuropathy HP:0007067 Peripheral sensory neuropathy affecting primarily distal sensation. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the inferior portion of the vermis of cerebellum. HP:0005724 UMLS:C1855350 Hypoplasia of inferior vermis Inferior vermis hypoplasia human_phenotype HP:0007068 Inferior cerebellar vermis hypoplasia HP:0007068 Underdevelopment of the inferior portion of the vermis of cerebellum. PMID:16580298 https://orcid.org/0000-0002-0736-9199 UMLS:C4024944 human_phenotype HP:0007069 Profound static encephalopathy HP:0007069 true HP:0007070 true HP:0007071 true HP:0007072 true HP:0007073 Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. HP:0006805 HP:0006807 HP:0200009 HP:0200010 UMLS:C1835194 Abnormal size of corpus callosum Large corpus callosum human_phenotype HP:0007074 Thick corpus callosum HP:0007074 Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. HPO_CONTRIBUTOR:KI_phemming PMID:10029348 true HP:0007075 Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). UMLS:C1852470 human_phenotype HP:0007076 This is a classic type of extrapyramidal movement disorder. Extrapyramidal muscular rigidity HP:0007076 Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). https://orcid.org/0000-0002-0736-9199 true HP:0007077 A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. UMLS:C4024943 human_phenotype HP:0007078 Decreased amplitude of sensory action potentials HP:0007078 A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. https://orcid.org/0000-0002-0736-9199 true HP:0007079 true HP:0007080 HP:0003560 human_phenotype HP:0007081 obsolete Late-onset muscular dystrophy true HP:0007081 An increase in size of the third ventricle. UMLS:C4024941 human_phenotype HP:0007082 The third ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. Dilated third ventricle HP:0007082 An increase in size of the third ventricle. https://orcid.org/0000-0002-0736-9199 UMLS:C0240116 Hyperreflexia in knees Overactive knee reflex human_phenotype Brisk knee jerk HP:0007083 Hyperactive patellar reflex HP:0007083 Overactive knee reflex https://orcid.org/0000-0001-6908-9849 Brisk knee jerk true HP:0007084 true HP:0007085 UMLS:C1866986 human_phenotype HP:0007086 Social and occupational deterioration HP:0007086 HP:0001336 human_phenotype HP:0007087 obsolete Involuntary jerking movements true HP:0007087 true HP:0007088 Fasciculations affecting the tongue muscle and the musculature of the face. UMLS:C1862359 human_phenotype HP:0007089 Facial-lingual fasciculations HP:0007089 Fasciculations affecting the tongue muscle and the musculature of the face. https://orcid.org/0000-0002-0736-9199 true HP:0007090 true HP:0007091 true HP:0007092 true HP:0007093 true HP:0007094 HP:0012650 human_phenotype HP:0007095 obsolete Frontoparietal polymicrogyria true HP:0007095 UMLS:C1856654 Underdeveloped optic tract human_phenotype HP:0007096 Hypoplasia of the optic tract HP:0007096 Underdeveloped optic tract https://orcid.org/0000-0001-5208-3432 UMLS:C4024940 human_phenotype HP:0007097 Cranial nerve motor loss HP:0007097 Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. HP:0002351 SNOMEDCT_US:49949003 UMLS:C1851936 Choreoathetosis, episodic Choreoathetosis, intermittent human_phenotype HP:0007098 Paroxysmal choreoathetosis HP:0007098 Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. https://orcid.org/0000-0002-0736-9199 Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) HP:0002440 SNOMEDCT_US:253185002 UMLS:C0750929 Arnold Chiari type I malformation Arnold-Chiari type I malformation Chiari I malformation human_phenotype HP:0007099 Chiari type I malformation HP:0007099 Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) PMID:28613730 https://orcid.org/0000-0002-0736-9199 UMLS:C1865119 human_phenotype HP:0007100 Progressive ventriculomegaly HP:0007100 true HP:0007101 true HP:0007102 A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. HP:0006804 UMLS:C4020908 White matter hypointensities on MRI human_phenotype HP:0007103 Hypointensity of cerebral white matter on MRI HP:0007103 A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. https://orcid.org/0000-0002-0736-9199 UMLS:C4024939 human_phenotype HP:0007104 Prolonged somatosensory evoked potentials HP:0007104 Encephalopathy with onset in the infantile period. HP:0006948 HP:0007309 HP:0007353 UMLS:C1856408 human_phenotype HP:0007105 Infantile encephalopathy HP:0007105 Encephalopathy with onset in the infantile period. https://orcid.org/0000-0002-0736-9199 true HP:0007106 A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. UMLS:C4024938 human_phenotype HP:0007107 Segmental peripheral demyelination HP:0007107 A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. HP:0007205 SNOMEDCT_US:23414001 UMLS:C0270922 human_phenotype HP:0007108 Demyelinating peripheral neuropathy HP:0007108 Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. https://orcid.org/0000-0002-0736-9199 UMLS:C1839858 human_phenotype HP:0007109 Periventricular cysts HP:0007109 UMLS:C3805839 human_phenotype HP:0007110 Central hypoventilation HP:0007110 UMLS:C4024937 human_phenotype HP:0007111 Chronic hepatic encephalopathy HP:0007111 Atrophy of the temporal cortex. UMLS:C4024936 human_phenotype HP:0007112 Temporal cortical atrophy HP:0007112 Atrophy of the temporal cortex. https://orcid.org/0000-0002-0736-9199 true HP:0007113 true HP:0007114 A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction. SNOMEDCT_US:15671007 UMLS:C0271330 Orbital encephalocele human_phenotype HP:0007115 Naso-orbital encephalocele HP:0007115 true HP:0007116 UMLS:C1838868 human_phenotype HP:0007117 Corticospinal tract atrophy HP:0007117 true HP:0007118 true HP:0007119 true HP:0007120 true HP:0007121 true HP:0007122 A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. UMLS:C4024935 human_phenotype HP:0007123 Subcortical dementia HP:0007123 A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. PMID:4819905 https://orcid.org/0000-0002-0736-9199 true HP:0007124 true HP:0007125 Amyotrophy (muscular atrophy) affecting the proximal musculature. HP:0006792 HP:0006966 HP:0008943 HP:0008980 HP:0009041 UMLS:C1850794 Muscle atrophy, proximal Proximal muscle atrophy Proximal muscle wasting Symmetric proximal muscular atrophy Symmetrical, proximal limb muscle atrophy Wasting of muscles near the body human_phenotype HP:0007126 Proximal amyotrophy usually has a roughly symmetric distribution. Proximal amyotrophy HP:0007126 Amyotrophy (muscular atrophy) affecting the proximal musculature. https://orcid.org/0000-0002-0736-9199 Wasting of muscles near the body https://orcid.org/0000-0002-6548-5200 true HP:0007127 true HP:0007128 UMLS:C4024934 human_phenotype HP:0007129 Cerebellar medulloblastoma HP:0007129 true HP:0007130 Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. UMLS:C4024933 human_phenotype HP:0007131 This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. Acute demyelinating polyneuropathy HP:0007131 Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. https://orcid.org/0000-0002-0736-9199 Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. SNOMEDCT_US:230302004 UMLS:C0393577 human_phenotype HP:0007132 Pallidal degeneration HP:0007132 Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. https://orcid.org/0000-0002-0736-9199 HP:0007329 UMLS:C1859178 Progressive polyneuropathy human_phenotype HP:0007133 Progressive peripheral neuropathy HP:0007133 true HP:0007134 true HP:0007135 true HP:0007136 true HP:0007137 true HP:0007138 true HP:0007139 true HP:0007140 HP:0007055 HP:0007237 UMLS:C1112256 Mixed polyneuropathy Nerve damage causing decreased feeling and movement Sensorimotor peripheral neuropathy human_phenotype HP:0007141 Sensorimotor neuropathy HP:0007141 Nerve damage causing decreased feeling and movement https://orcid.org/0000-0002-6548-5200 true HP:0007142 true HP:0007143 true HP:0007144 true HP:0007145 UMLS:C4024932 human_phenotype HP:0007146 Bilateral basal ganglia lesions HP:0007146 true HP:0007147 true HP:0007148 Muscular atrophy of distal arm muscles. UMLS:C4021581 Distal upper limb muscle atrophy human_phenotype HP:0007149 Distal upper limb amyotrophy HP:0007149 Muscular atrophy of distal arm muscles. https://orcid.org/0000-0002-0736-9199 true HP:0007150 true HP:0007151 true HP:0007152 UMLS:C2748610 human_phenotype HP:0007153 Progressive extrapyramidal movement disorder HP:0007153 true HP:0007154 true HP:0007155 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. UMLS:C4024931 human_phenotype HP:0007156 Asymmetric limb muscle stiffness HP:0007156 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern. https://orcid.org/0000-0002-0736-9199 true HP:0007157 A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). UMLS:C4021580 Progressive extrapyramidal rigidity human_phenotype HP:0007158 Progressive extrapyramidal muscular rigidity HP:0007158 A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). https://orcid.org/0000-0002-0736-9199 Changes in one's level of awareness and responsiveness to their environment. UMLS:C1851959 human_phenotype HP:0007159 Fluctuations in consciousness HP:0007159 Changes in one's level of awareness and responsiveness to their environment. PMID:32374025 PMID:34557672 true HP:0007160 true HP:0007161 A diffuse loss of myelin from nerve fibers in the central nervous system. UMLS:C4024930 human_phenotype HP:0007162 Diffuse demyelination of the cerebral white matter HP:0007162 A diffuse loss of myelin from nerve fibers in the central nervous system. https://orcid.org/0000-0002-0736-9199 HP:0007256 human_phenotype HP:0007163 obsolete Corticospinal tract disease in lower limbs true HP:0007163 UMLS:C4024929 Slowed slurred speech human_phenotype HP:0007164 Slowed slurred speech HP:0007164 Slowed slurred speech A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. HP:0002272 UMLS:C1849173 Periventricular gray matter heterotopia Periventricular grey matter heterotopia Periventricular neuronal heterotopia Subependymal gray matter heterotopia Subependymal grey matter heterotopia Subependymal neuronal heterotopia human_phenotype HP:0007165 Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. Periventricular heterotopia HP:0007165 A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. PMID:22427329 https://orcid.org/0000-0002-0736-9199 Periventricular grey matter heterotopia Periventricular neuronal heterotopia https://orcid.org/0000-0002-0736-9199 Subependymal gray matter heterotopia https://orcid.org/0000-0002-0736-9199 Subependymal grey matter heterotopia Subependymal neuronal heterotopia https://orcid.org/0000-0002-0736-9199 Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. UMLS:C0752210 UMLS:C1836174 human_phenotype Involuntary dystonic or choreiform movements HP:0007166 Paroxysmal dyskinesia HP:0007166 Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. https://orcid.org/0000-0002-0736-9199 true HP:0007167 true HP:0007168 true HP:0007169 true HP:0007170 true HP:0007171 true HP:0007172 true HP:0007173 true HP:0007174 true HP:0007175 true HP:0007176 true HP:0007177 HP:0007278 SNOMEDCT_US:85423005 SNOMEDCT_US:95663000 UMLS:C0235025 UMLS:C0271683 Peripheral motor neuropathy human_phenotype HP:0007178 Motor polyneuropathy HP:0007178 A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. UMLS:C4024928 human_phenotype HP:0007179 Absent smooth pursuit HP:0007179 A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. https://orcid.org/0000-0002-0736-9199 true HP:0007180 Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. UMLS:C1846829 Interosseous muscular atrophy human_phenotype HP:0007181 This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. Interosseus muscle atrophy HP:0007181 Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones. https://orcid.org/0000-0002-0736-9199 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. HP:0007012 HP:0007160 HP:0007226 UMLS:C4024927 human_phenotype HP:0007182 This finding can be demonstrated by nerve biopsy. Peripheral hypomyelination HP:0007182 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. UMLS:C1865351 UMLS:C4024926 human_phenotype Hyperintense lesions in the basal ganglia on MRI HP:0007183 Focal T2 hyperintense basal ganglia lesion HP:0007183 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. https://orcid.org/0000-0002-0736-9199 true HP:0007184 Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged. SNOMEDCT_US:418107008 SNOMEDCT_US:419045004 UMLS:C0041657 Fainting Loss of consciousness Passing out human_phenotype HP:0007185 Loss of consciousness HP:0007185 Loss of awareness of oneself or one's surroundings, involving (i) a loss of normal motor control is evident as flaccidity or stiffness, either of which can be accompanied by jerking movements, and postural control is lost so that patients fall if they are in an upright position; (ii) normal responsiveness is lost; and (iii) the patient experiences amnesia for the event. Loss of consciousness my be transitory (e.g., syncope) or prolonged. PMID:19597513 PMID:32090418 Fainting Loss of consciousness Passing out true HP:0007186 A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. UMLS:C1855230 human_phenotype HP:0007187 Focal lissencephaly HP:0007187 A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. HPO_CONTRIBUTOR:KI_phemming Facial diplegia (that is, bilateral facial palsy) with congenital onset. UMLS:C0853240 Congenital bilateral facial palsy Congenital bilateral facial weakness human_phenotype HP:0007188 Congenital facial diplegia HP:0007188 Facial diplegia (that is, bilateral facial palsy) with congenital onset. https://orcid.org/0000-0002-0736-9199 Congenital bilateral facial palsy https://orcid.org/0000-0001-5889-4463 Congenital bilateral facial weakness https://orcid.org/0000-0001-5889-4463 true HP:0007189 UMLS:C1849485 human_phenotype HP:0007190 Neuronal loss in the cerebral cortex HP:0007190 true HP:0007191 true HP:0007192 Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). HP:0007008 UMLS:C1847165 Generalised tonic-clonic seizures on awakening Generalized tonic-clonic seizures on awakening Morning generalised tonic-clonic seizures Morning generalized tonic-clonic seizures human_phenotype HP:0007193 Bilateral tonic-clonic seizure on awakening HP:0007193 Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). PMID:24395517 PMID:26948972 https://orcid.org/0000-0002-0736-9199 Generalised tonic-clonic seizures on awakening Morning generalised tonic-clonic seizures Morning generalized tonic-clonic seizures true HP:0007194 true HP:0007195 true HP:0007196 true HP:0007197 true HP:0007198 UMLS:C0747251 human_phenotype HP:0007199 Progressive spastic paraparesis HP:0007199 Recurrent episodes of hypersomnia (sleeping 16 or more hours a day) over a period of days or weeks. UMLS:C4024925 Idiopathic hypersomnia Recurrent hypersomnia human_phenotype HP:0007200 This feature is characteristic of Kleine-Levin syndrome. Episodic hypersomnia HP:0007200 Recurrent episodes of hypersomnia (sleeping 16 or more hours a day) over a period of days or weeks. PMID:36865656 The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain. Plaque build-up in cerebral artery UMLS:C4024924 human_phenotype HP:0007201 Cerebral artery atherosclerosis HP:0007201 The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain. PMID:31420554 https://orcid.org/0000-0002-0736-9199 Plaque build-up in cerebral artery https://orcid.org/0000-0001-5208-3432 true HP:0007202 true HP:0007203 UMLS:C4024923 human_phenotype HP:0007204 This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. Diffuse white matter abnormalities HP:0007204 true HP:0007205 Enlargement of all or parts of one cerebral hemisphere. SNOMEDCT_US:253170008 UMLS:C0431391 human_phenotype HP:0007206 The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. Hemimegalencephaly HP:0007206 Enlargement of all or parts of one cerebral hemisphere. PMID:17416820 https://orcid.org/0000-0002-0736-9199 Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. UMLS:C1846131 Photically induced tonic-clonic seizure Photosensitive tonic-clonic seizures Seizures, tonic-clonic, photosensitive human_phenotype HP:0007207 Photosensitive tonic-clonic seizure HP:0007207 Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. PMID:28276060 https://orcid.org/0000-0002-0736-9199 Photosensitive tonic-clonic seizures Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. UMLS:C4024922 human_phenotype HP:0007208 Irregular myelin loops HP:0007208 Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. PMID:20301641 PMID:8817346 Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). HP:0007358 SNOMEDCT_US:280816001 SNOMEDCT_US:95666008 UMLS:C0015469 UMLS:C0427055 Facial paralysis Facial paresis human_phenotype HP:0007209 Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment. Facial paralysis HP:0007209 Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Facial paralysis Facial paresis https://orcid.org/0000-0001-5889-4463 Muscular atrophy affecting the lower limb. UMLS:C4024921 human_phenotype HP:0007210 Lower limb amyotrophy HP:0007210 Muscular atrophy affecting the lower limb. https://orcid.org/0000-0002-0736-9199 true HP:0007211 true HP:0007212 true HP:0007213 true HP:0007214 Episodes of muscle weakness associated with elevated levels of potassium in the blood. SNOMEDCT_US:304737009 UMLS:C0238357 Hyperkalemic periodic paralysis human_phenotype HP:0007215 Periodic hyperkalemic paralysis HP:0007215 Episodes of muscle weakness associated with elevated levels of potassium in the blood. https://orcid.org/0000-0002-0736-9199 true HP:0007216 true HP:0007217 true HP:0007218 true HP:0007219 Demyelination of peripheral motor nerves. UMLS:C1969462 human_phenotype HP:0007220 Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. Demyelinating motor neuropathy HP:0007220 Demyelination of peripheral motor nerves. https://orcid.org/0000-0002-0736-9199 UMLS:C1849143 human_phenotype HP:0007221 Progressive truncal ataxia HP:0007221 true HP:0007222 true HP:0007223 true HP:0007224 true HP:0007225 true HP:0007226 HP:0001302 human_phenotype HP:0007227 obsolete Macrogyria true HP:0007227 true HP:0007228 The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. UMLS:C1837246 human_phenotype HP:0007229 Intracerebral periventricular calcifications HP:0007229 The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. https://orcid.org/0000-0002-0736-9199 A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. UMLS:C4024920 human_phenotype HP:0007230 Decreased distal sensory nerve action potential HP:0007230 A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. https://orcid.org/0000-0002-0736-9199 true HP:0007231 UMLS:C4024919 human_phenotype HP:0007232 Spinocerebellar tract disease in lower limbs HP:0007232 Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. UMLS:C1843169 human_phenotype HP:0007233 Clusters of axonal regeneration HP:0007233 Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. HPO_CONTRIBUTOR:jbaets true HP:0007234 true HP:0007235 UMLS:C4024918 human_phenotype HP:0007236 Recurrent subcortical infarcts HP:0007236 true HP:0007237 UMLS:C4021579 Cerebral calcification, nonarteriosclerotic human_phenotype HP:0007238 Nonarteriosclerotic cerebral calcification HP:0007238 UMLS:C4024917 human_phenotype HP:0007239 Congenital encephalopathy HP:0007239 A type of gait ataxia displaying progression of clinical severity. HP:0002142 UMLS:C1843885 Gait ataxia, progressive human_phenotype HP:0007240 Progressive gait ataxia HP:0007240 A type of gait ataxia displaying progression of clinical severity. https://orcid.org/0000-0002-0736-9199 true HP:0007241 true HP:0007242 true HP:0007243 true HP:0007244 true HP:0007245 true HP:0007246 true HP:0007247 true HP:0007248 UMLS:C4024916 Decreased number of small peripheral myelinated nerve fibres human_phenotype HP:0007249 Decreased number of small peripheral myelinated nerve fibers HP:0007249 Decreased number of small peripheral myelinated nerve fibres Alternating and recurrent weakness of the external ocular muscles. UMLS:C4024915 human_phenotype HP:0007250 Recurrent external ophthalmoplegia HP:0007250 Alternating and recurrent weakness of the external ocular muscles. https://orcid.org/0000-0002-0736-9199 true HP:0007251 true HP:0007252 true HP:0007253 true HP:0007254 true HP:0007255 Functional neurological abnormalities related to dysfunction of the pyramidal tract. HP:0003488 HP:0007161 HP:0007225 HP:0007275 HP:0007324 HP:0007347 SNOMEDCT_US:14648003 UMLS:C0234132 Corticospinal signs Pyramidal signs Pyramidal tract signs human_phenotype HP:0007256 pyramidal signs are a subset of long-tract signs that specifically indicate corticospinal tract involvement. The more general term long-tract sign refers to a clinical findings related to damage to the long white matter tracts of the CNS, particularly the corticospinal tract, dorsal columns, and the spinothalamic tract. Abnormal pyramidal sign HP:0007256 Functional neurological abnormalities related to dysfunction of the pyramidal tract. https://orcid.org/0000-0002-0736-9199 true HP:0007257 A severe loss of myelin from nerve fibers in the central nervous system. UMLS:C1856001 human_phenotype HP:0007258 Severe demyelination of the white matter HP:0007258 A severe loss of myelin from nerve fibers in the central nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0007259 A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. HP:0006853 SNOMEDCT_US:253149002 UMLS:C0431376 Cobblestone lissencephaly Lissencephaly type II Type 2 lissencephaly human_phenotype HP:0007260 Type II lissencephaly HP:0007260 A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. https://orcid.org/0000-0002-0736-9199 true HP:0007261 A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. UMLS:C4024914 human_phenotype HP:0007262 Symmetric peripheral demyelination HP:0007262 A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. SNOMEDCT_US:129609000 UMLS:C0087012 human_phenotype HP:0007263 Spinocerebellar atrophy HP:0007263 Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. https://orcid.org/0000-0002-0736-9199 true HP:0007264 Agenesis of the midbrain. UMLS:C4024913 human_phenotype HP:0007265 Midbrain and mesencephalon are synonymous. Absent mesencephalon HP:0007265 Agenesis of the midbrain. HPO_CONTRIBUTOR:KI_phemming Defective structure and function of myelin sheaths of the white matter of the brain. HP:0007134 HP:0007217 UMLS:C1854885 UMLS:C4020810 Areas of dysmyelination on MRI Dysmyelination of the brain human_phenotype White matter dysmyelination/demyelination HP:0007266 Cerebral dysmyelination HP:0007266 Defective structure and function of myelin sheaths of the white matter of the brain. https://orcid.org/0000-0002-0736-9199 An abnormality characterized by chronic impairment of the normal functioning of the axons. HP:0003446 UMLS:C4021578 Chronic sural axonal neuropathy human_phenotype HP:0007267 This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. Chronic axonal neuropathy HP:0007267 An abnormality characterized by chronic impairment of the normal functioning of the axons. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:277922001 UMLS:C0431349 human_phenotype HP:0007268 Aprosencephaly HP:0007268 Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. SNOMEDCT_US:5262007 UMLS:C0026847 Spinal muscle degeneration Spinal muscle wasting human_phenotype HP:0007269 Spinal muscular atrophy HP:0007269 Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. https://orcid.org/0000-0002-0736-9199 Spinal muscle degeneration https://orcid.org/0000-0001-5208-3432 Spinal muscle wasting https://orcid.org/0000-0001-5208-3432 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. SNOMEDCT_US:23374007 UMLS:C0595948 Atypical absence Atypical absence seizures Atypical petit mal seizures human_phenotype HP:0007270 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Atypical absence seizure HP:0007270 An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. PMID:28276060 PMID:28276062 PMID:28276064 PMID:6790275 https://orcid.org/0000-0002-0736-9199 Atypical absence seizures Atypical petit mal seizures https://orcid.org/0000-0001-6908-9849 UMLS:C4024912 human_phenotype HP:0007271 Occipital myelomeningocele HP:0007271 HP:0006856 UMLS:C1856565 Progressive mental and motor deterioration human_phenotype HP:0007272 Progressive psychomotor deterioration HP:0007272 true HP:0007273 An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. UMLS:C1845604 human_phenotype HP:0007274 Recurrent bacterial meningitis HP:0007274 An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. https://orcid.org/0000-0002-0736-9199 true HP:0007275 true HP:0007276 UMLS:C2673351 human_phenotype HP:0007277 Paucity of anterior horn motor neurons HP:0007277 true HP:0007278 true HP:0007279 UMLS:C4024911 human_phenotype HP:0007280 Acute infantile spinal muscular atrophy HP:0007280 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. HP:0007130 HP:0007198 UMLS:C1848980 Developmental arrest human_phenotype HP:0007281 Developmental stagnation HP:0007281 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. https://orcid.org/0000-0002-0736-9199 true HP:0007282 true HP:0007283 true HP:0007284 Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. UMLS:C1849260 Facial palsy caused by enlargement of cranial bones Facial palsy caused by excessive growth of facial bones Facial palsy caused by overgrowth of cranial bones Facial palsy secondary to hypertrophy of cranial bones human_phenotype HP:0007285 Facial palsy secondary to cranial hyperostosis HP:0007285 Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. https://orcid.org/0000-0002-0736-9199 Facial palsy caused by enlargement of cranial bones https://orcid.org/0000-0001-5889-4463 Facial palsy caused by excessive growth of facial bones https://orcid.org/0000-0001-5889-4463 Facial palsy caused by overgrowth of cranial bones https://orcid.org/0000-0001-5889-4463 Facial palsy secondary to hypertrophy of cranial bones https://orcid.org/0000-0001-5889-4463 Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. UMLS:C4024910 human_phenotype HP:0007286 Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. Horizontal jerk nystagmus HP:0007286 Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other. https://orcid.org/0000-0002-0736-9199 true HP:0007287 true HP:0007288 Fasciculations affecting the musculature of the arms and legs. HP:0007049 UMLS:C1854657 Limb fasciculation human_phenotype HP:0007289 Limb fasciculations HP:0007289 Fasciculations affecting the musculature of the arms and legs. https://orcid.org/0000-0002-0736-9199 true HP:0007290 A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. HP:0006985 UMLS:C1857353 human_phenotype HP:0007291 Posterior fossa cyst HP:0007291 A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. PMID:2816648 https://orcid.org/0000-0002-0736-9199 true HP:0007292 UMLS:C1867776 human_phenotype HP:0007293 Anterior sacral meningocele HP:0007293 true HP:0007294 UMLS:C4024909 human_phenotype HP:0007295 Chaotic rapid conjugate ocular movements HP:0007295 true HP:0007296 true HP:0007297 true HP:0007298 UMLS:C1832671 human_phenotype HP:0007299 Dysfunction of lateral corticospinal tracts HP:0007299 true HP:0007300 Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control. UMLS:C4021845 Oral-motor apraxia human_phenotype HP:0007301 Affected individuals may experience difficulty in performing movements involving the muscles that also are involved in speech (e.g., clicking the tongue, licking the lips, whistling). Oromotor apraxia HP:0007301 Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control. PMID:26275812 Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. HP:0000755 SNOMEDCT_US:13746004 UMLS:C0005586 Bipolar depression Bipolar disorder Manic depressive human_phenotype HP:0007302 Bipolar affective disorder HP:0007302 Bipolar disorder true HP:0007303 true HP:0007304 A loss of myelin from nerve fibers in the central nervous system. HP:0007222 UMLS:C0338474 Demyelination in central white matter human_phenotype HP:0007305 CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. CNS demyelination HP:0007305 A loss of myelin from nerve fibers in the central nervous system. https://orcid.org/0000-0002-0736-9199 true HP:0007306 Loss of neurological function in a time frame that is considered relatively quick, for instance, loss of a develomental milestone or substantial exacerbation of neurological complications such as seizures or feeding difficulties within a few months. UMLS:C4024908 human_phenotype HP:0007307 Rapid neurologic deterioration HP:0007307 UMLS:C1848528 human_phenotype HP:0007308 Extrapyramidal dyskinesia HP:0007308 true HP:0007309 true HP:0007310 UMLS:C3805715 Short stepped shuffling walk human_phenotype HP:0007311 Short stepped shuffling gait HP:0007311 Short stepped shuffling walk https://orcid.org/0000-0001-5208-3432 true HP:0007312 HP:0006874 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 Neuroaxonal degeneration in the brain human_phenotype HP:0007313 Cerebral degeneration HP:0007313 HP:0002282 human_phenotype HP:0007314 obsolete White matter neuronal heterotopia true HP:0007314 true HP:0007315 HP:0002305 human_phenotype HP:0007316 obsolete Involuntary writhing movements true HP:0007316 true HP:0007317 true HP:0007318 true HP:0007319 true HP:0007320 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. UMLS:C1856979 Deep cerebral white matter hypodensities human_phenotype HP:0007321 See also definition for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other. Deep white matter hypodensities HP:0007321 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. PMID:16239634 https://orcid.org/0000-0002-0736-9199 true HP:0007322 true HP:0007323 true HP:0007324 A type of dystonia that affects all or most of the body. SNOMEDCT_US:425492002 UMLS:C1848954 Generalised dystonia human_phenotype HP:0007325 Generalized dystonia HP:0007325 A type of dystonia that affects all or most of the body. https://orcid.org/0000-0002-0736-9199 Generalised dystonia UMLS:C1860216 human_phenotype HP:0007326 Progressive choreoathetosis HP:0007326 UMLS:C4024907 human_phenotype HP:0007327 Mixed demyelinating and axonal polyneuropathy HP:0007327 Reduced ability to perceive painful stimuli. HP:0002713 UMLS:C1837522 Decreased pain sensation Decreased pinprick sensation Impaired pain sensation human_phenotype HP:0007328 Impaired pain sensation HP:0007328 Reduced ability to perceive painful stimuli. https://orcid.org/0000-0002-0736-9199 Decreased pain sensation Impaired pain sensation true HP:0007329 A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital. HP:0004478 SNOMEDCT_US:253103006 UMLS:C0431289 Frontal encephalocele human_phenotype HP:0007330 Frontoethmoidal encephalocele HP:0007330 A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital. PMID:25593873 true HP:0007331 Focal seizure characterized at onset by clonic movements affecting half of the face. UMLS:C4024906 Hemifacial seizures human_phenotype HP:0007332 A seizure type typically occurring in childhood epilepsy with centrotemporal spikes. Focal hemifacial clonic seizure HP:0007332 Focal seizure characterized at onset by clonic movements affecting half of the face. HPO_CONTRIBUTOR:jalbers PMID:28276060 Hemifacial seizures Underdevelopment of the frontal lobe of the cerebrum. HP:0002424 UMLS:C1849172 Frontal lobe hypoplasia Hypoplastic frontal lobes Underdeveloped frontal lobe human_phenotype HP:0007333 Hypoplasia of the frontal lobes HP:0007333 Underdevelopment of the frontal lobe of the cerebrum. https://orcid.org/0009-0006-4530-3154 Underdeveloped frontal lobe https://orcid.org/0000-0001-5208-3432 A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. HP:0002602 UMLS:C0877017 Focal seizure with secondary generalisation Focal seizure with secondary generalization Focal to bilateral tonic-clonic seizure Generalised tonic-clonic seizure with focal onset Generalised tonic-clonic seizure with partial onset Generalised tonic-clonic seizures with focal onset Generalized tonic-clonic seizure with focal onset Generalized tonic-clonic seizure with partial onset Generalized tonic-clonic seizures with focal onset Partial seizure with secondary generalisation Partial seizure with secondary generalization Partial seizures with secondary generalisation Partial seizures with secondary generalization Secondarily generalised tonic-clonic seizure Secondarily generalised tonic-clonic seizures Secondarily generalized tonic-clonic seizure Secondarily generalized tonic-clonic seizures Secondary generalised tonic clonic seizures Secondary generalised tonic-clonic seizures Secondary generalized tonic clonic seizures Secondary generalized tonic-clonic seizures human_phenotype HP:0007334 The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. Bilateral tonic-clonic seizure with focal onset HP:0007334 A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-0736-9199 Focal seizure with secondary generalisation Generalised tonic-clonic seizures with focal onset Generalized tonic-clonic seizures with focal onset Partial seizure with secondary generalisation Partial seizures with secondary generalisation Secondarily generalised tonic-clonic seizure Secondarily generalised tonic-clonic seizures Secondary generalised tonic clonic seizures Secondary generalised tonic-clonic seizures Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. HP:0006947 UMLS:C1850719 Recurrent cerebellar and extrapyramidal encephalopathy human_phenotype HP:0007335 Recurrent encephalopathy HP:0007335 Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. https://orcid.org/0000-0002-0736-9199 true HP:0007336 true HP:0007337 A saccade that overshoots the target with the dynamic saccade. SNOMEDCT_US:246769000 UMLS:C0423083 human_phenotype HP:0007338 Hypermetric saccades HP:0007338 A saccade that overshoots the target with the dynamic saccade. PMID:572501 https://orcid.org/0000-0002-0736-9199 true HP:0007339 Weakness of the muscles of the legs. HP:0002065 HP:0002477 HP:0009047 SNOMEDCT_US:249945007 UMLS:C0427068 UMLS:C1836296 Leg weakness Lower extremity weakness Lower limb muscle weakness Lower limb weakness Muscle weakness in lower limbs human_phenotype HP:0007340 Inability to perform rapid, alternating movements. Lower limb muscle weakness HP:0007340 Weakness of the muscles of the legs. https://orcid.org/0000-0002-0736-9199 Leg weakness https://orcid.org/0000-0002-5316-1399 Lower extremity weakness Lower limb muscle weakness Lower limb weakness Muscle weakness in lower limbs UMLS:C1858855 human_phenotype HP:0007341 Diffuse swelling of cerebral white matter HP:0007341 true HP:0007342 Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. UMLS:C1863392 Limbic malformation human_phenotype HP:0007343 Abnormal morphology of the limbic system HP:0007343 UMLS:C1843858 Atrophic and degenerative changes in the spinal cord human_phenotype HP:0007344 Atrophy/Degeneration involving the spinal cord HP:0007344 true HP:0007345 UMLS:C1851430 human_phenotype HP:0007346 Subcortical white matter calcifications HP:0007346 true HP:0007347 UMLS:C1850871 human_phenotype HP:0007348 Hypoplasia of the pyramidal tract HP:0007348 true HP:0007349 Increased intensity of the a reflex in the arm. UMLS:C1843175 Hyperreflexia in upper limbs human_phenotype HP:0007350 Upper limb hyperreflexia HP:0007350 A type of tremors that is triggered by holding an arm in a fixed position. HP:0007297 UMLS:C1867138 Postural tremor of arms human_phenotype HP:0007351 Upper limb postural tremor HP:0007351 A type of tremors that is triggered by holding an arm in a fixed position. https://orcid.org/0000-0002-0736-9199 UMLS:C1851431 human_phenotype HP:0007352 Cerebellar calcifications HP:0007352 true HP:0007353 SNOMEDCT_US:86044005 UMLS:C0002736 human_phenotype Lou Gehrig's disease HP:0007354 Amyotrophic lateral sclerosis HP:0007354 Lou Gehrig's disease https://orcid.org/0000-0001-5208-3432 true HP:0007355 true HP:0007356 true HP:0007357 true HP:0007358 A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. 2008-03-31T05:27:00Z HP:0002358 HP:0040168 SNOMEDCT_US:29753000 UMLS:C0751495 Focal onset seizure Focal seizure Focal seizures Focal-onset seizures Partial seizure Partial seizures Seizure affecting one half of brain human_phenotype HP:0007359 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Focal-onset seizure HP:0007359 A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 Focal seizures Focal-onset seizures Partial seizures Seizure affecting one half of brain https://orcid.org/0000-0002-6548-5200 2008-03-31T05:30:00Z HP:0006857 HP:0007368 UMLS:C3279222 Absent/small cerebellum Absent/underdeveloped cerebellum Atrophy/Degeneration affecting the cerebellum Atrophy/Hypoplasia of the cerebellum Cerebellar hypoplasia/atrophy human_phenotype HP:0007360 Aplasia/Hypoplasia of the cerebellum HP:0007360 Absent/small cerebellum https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped cerebellum https://orcid.org/0000-0001-5208-3432 A structural abnormality of the pons. 2008-03-31T05:32:00Z UMLS:C4024905 Abnormality of the pons human_phenotype HP:0007361 The pons is the portion of the brainstem superior to the medulla oblongata. Abnormal pons morphology HP:0007361 A structural abnormality of the pons. https://orcid.org/0000-0002-0736-9199 2008-03-31T05:33:00Z UMLS:C4024904 Absent/small brainstem Absent/underdeveloped brainstem human_phenotype HP:0007362 Aplasia/Hypoplasia of the brainstem HP:0007362 Absent/small brainstem https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped brainstem https://orcid.org/0000-0001-5208-3432 2008-03-31T05:41:00Z UMLS:C4024903 human_phenotype HP:0007363 Aplasia/Hypoplasia of the pyramidal tract HP:0007363 2008-03-31T05:43:00Z UMLS:C4024902 Absent/small cerebrum Absent/underdeveloped cerebrum human_phenotype HP:0007364 Aplasia/Hypoplasia of the cerebrum HP:0007364 Absent/small cerebrum https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped cerebrum https://orcid.org/0000-0001-6908-9849 2008-03-31T05:45:00Z UMLS:C4024901 human_phenotype HP:0007365 Aplasia/Hypoplasia involving the corticospinal tracts HP:0007365 2008-04-01T10:22:00Z UMLS:C4024900 Brainstem atrophy human_phenotype HP:0007366 Atrophy/Degeneration affecting the brainstem HP:0007366 2008-04-01T10:23:00Z UMLS:C4024899 Atrophy/Degeneration affecting the CNS human_phenotype HP:0007367 Atrophy/Degeneration affecting the central nervous system HP:0007367 Atrophy/Degeneration affecting the CNS true HP:0007368 The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. 2008-04-01T10:28:00Z UMLS:C4024898 human_phenotype HP:0007369 Atrophy/Degeneration affecting the cerebrum HP:0007369 The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the corpus callosum. 2008-04-01T10:35:00Z HP:0007003 HP:0007060 HP:0007061 HP:0007137 UMLS:C1861866 Absent/hypoplastic corpus callosum Agenesis/hypoplastic corpus callosum Complete or partial absence of the corpus callosum Hypoplasia or absence of the corpus callosum Hypoplastic or absent corpus callosum human_phenotype HP:0007370 Aplasia/Hypoplasia of the corpus callosum HP:0007370 Absence or underdevelopment of the corpus callosum. https://orcid.org/0000-0002-0736-9199 The presence of atrophy (wasting) of the corpus callosum. 2008-04-01T10:36:00Z HP:0005712 SNOMEDCT_US:253142006 UMLS:C0431370 Atrophic corpus callosum Atrophy of the corpus callosum Atrophy/Degeneration of the corpus callosum human_phenotype HP:0007371 Corpus callosum atrophy HP:0007371 The presence of atrophy (wasting) of the corpus callosum. https://orcid.org/0009-0006-4530-3154 2008-04-01T10:38:00Z UMLS:C4024897 human_phenotype HP:0007372 Atrophy/Degeneration involving the corticospinal tracts HP:0007372 Wasting involving the motor neuron. 2008-04-01T10:39:00Z UMLS:C4024896 Motor neuron degeneration human_phenotype HP:0007373 Motor neuron atrophy HP:0007373 Wasting involving the motor neuron. https://orcid.org/0000-0002-0736-9199 Motor neuron degeneration https://orcid.org/0000-0001-5208-3432 2008-04-01T10:47:00Z UMLS:C4024895 human_phenotype HP:0007374 Atrophy/Degeneration involving the caudate nucleus HP:0007374 An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. 2008-04-01T10:48:00Z UMLS:C4024894 Abnormality of the septum pellucidum human_phenotype HP:0007375 Abnormal septum pellucidum morphology HP:0007375 An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. https://orcid.org/0000-0002-0736-9199 An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. 2008-04-01T10:52:00Z UMLS:C4024893 human_phenotype HP:0007376 The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. Abnormal choroid plexus morphology HP:0007376 An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells. https://orcid.org/0000-0002-0736-9199 An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. 2008-04-01T11:23:00Z UMLS:C4021577 Abnormality of SSEPs human_phenotype HP:0007377 Abnormality of somatosensory evoked potentials HP:0007377 An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the gastrointestinal tract. 2008-04-01T11:55:00Z NCIT:C3262 SNOMEDCT_US:126768004 UMLS:C0017185 GI tract tumor GI tract tumour Gastrointestinal tract neoplasia Gastrointestinal tract neoplasm Gastrointestinal tract tumor Gastrointestinal tract tumour Neoplasm of the GI tract human_phenotype HP:0007378 Neoplasm of the gastrointestinal tract HP:0007378 A tumor (abnormal growth of tissue) of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 GI tract tumor https://orcid.org/0000-0001-5208-3432 GI tract tumour Gastrointestinal tract tumor Gastrointestinal tract tumour Neoplasm of the GI tract A tumor (abnormal growth of tissue) of the genitourinary system. 2008-04-01T12:00:00Z NCIT:C3262 UMLS:C0042065 UMLS:C4020809 Genitourinary tract neoplasm Genitourinary tract tumors Genitourinary tract tumours Neoplasm of the GU tract human_phenotype Genitourinary tract neoplasia HP:0007379 Neoplasm of the genitourinary tract HP:0007379 A tumor (abnormal growth of tissue) of the genitourinary system. https://orcid.org/0000-0002-0736-9199 Genitourinary tract tumors Genitourinary tract tumours Neoplasm of the GU tract Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. HP:0007520 UMLS:C0858684 Facial telangiectatic vessels Telangiectasia, facial human_phenotype HP:0007380 Facial telangiectasia HP:0007380 Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. https://orcid.org/0000-0002-0736-9199 UMLS:C4024892 human_phenotype HP:0007381 Congenital exfoliative erythroderma HP:0007381 true HP:0007382 HP:0007557 UMLS:C2673597 Congenital localised absence of skin Congenital localised skin absence Congenital localized skin absence human_phenotype HP:0007383 Congenital localized absence of skin HP:0007383 Congenital localised absence of skin Congenital localised skin absence UMLS:C1969516 human_phenotype HP:0007384 Aberrant melanosome maturation HP:0007384 A developmental defect resulting in the congenital absence of skin on the scalp. HP:0000994 HP:0007568 Defect of scalp Focal absence of scalp tissue Scalp defect Solitary scalp defect UMLS:C1855698 UMLS:C4048801 UMLS:C4072857 UMLS:C4072858 Scalp aplasia cutis congenita human_phenotype HP:0007385 Aplasia cutis congenita of scalp HP:0007385 A developmental defect resulting in the congenital absence of skin on the scalp. https://orcid.org/0000-0002-0736-9199 Focal absence of scalp tissue https://orcid.org/0000-0001-5889-4463 Solitary scalp defect https://orcid.org/0000-0001-5889-4463 true HP:0007386 Underdevelopment of the sweat glands. UMLS:C1832455 Underdeveloped sweat glands human_phenotype HP:0007387 Hypoplastic sweat glands HP:0007387 Underdevelopment of the sweat glands. https://orcid.org/0000-0002-0736-9199 Underdeveloped sweat glands https://orcid.org/0000-0001-5208-3432 true HP:0007388 true HP:0007389 UMLS:C4024891 human_phenotype HP:0007390 Hyperkeratosis with erythema HP:0007390 true HP:0007391 UMLS:C4024890 Excessive wrinkled skin human_phenotype HP:0007392 Excessive wrinkled skin HP:0007392 Excessive wrinkled skin true HP:0007393 HP:0007577 UMLS:C1848771 Prominent superficial blood vessels Prominent superficial vasculature human_phenotype HP:0007394 Prominent superficial blood vessels HP:0007394 Prominent superficial blood vessels Prominent superficial vasculature A type of ichthyosiform erythroderma with postnatal onset. UMLS:C4021576 Postnatal-onset ichthyosis human_phenotype HP:0007395 Postnatal-onset ichthyosiform erythroderma HP:0007395 A type of ichthyosiform erythroderma with postnatal onset. https://orcid.org/0000-0002-0736-9199 Photosensitivity of the skin occurring early in life. UMLS:C4024889 Sun sensitivity occurring early in life human_phenotype HP:0007396 Early cutaneous photosensitivity HP:0007396 Photosensitivity of the skin occurring early in life. https://orcid.org/0000-0002-0736-9199 Sun sensitivity occurring early in life https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. UMLS:C1867003 human_phenotype HP:0007397 Axillary apocrine gland hypoplasia HP:0007397 Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. https://orcid.org/0000-0002-0736-9199 UMLS:C4024888 human_phenotype HP:0007398 Asymmetric, linear skin defects HP:0007398 true HP:0007399 UMLS:C1860236 human_phenotype HP:0007400 Irregular hyperpigmentation HP:0007400 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. SNOMEDCT_US:238828009 UMLS:C1288283 human_phenotype HP:0007401 Macular atrophy HP:0007401 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. PMID:39842718 https://orcid.org/0000-0003-0986-4123 UMLS:C4024886 human_phenotype HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines HP:0007402 UMLS:C1867617 Thick skin of soles human_phenotype HP:0007403 Hypertrophy of skin of soles HP:0007403 Thick skin of soles https://orcid.org/0000-0001-6908-9849 Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. UMLS:C1833030 Nonepidermolytic palmoplantar keratoderma human_phenotype HP:0007404 Nonepidermolytic palmoplantar hyperkeratosis HP:0007404 Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. PMID:7528239 true HP:0007405 SNOMEDCT_US:41115008 UMLS:C0155211 UMLS:C0854438 UMLS:C4280440 Dark eyelids human_phenotype Brown eyelids Pigmentation of eyelids HP:0007406 Hyperpigmentation of eyelids HP:0007406 Dark eyelids https://orcid.org/0000-0001-5889-4463 Brown eyelids https://orcid.org/0000-0001-5889-4463 Pigmentation of eyelids https://orcid.org/0000-0001-5889-4463 UMLS:C1837467 Excessive skin wrinkling on back of hands and fingers human_phenotype HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers HP:0007407 Excessive skin wrinkling on back of hands and fingers https://orcid.org/0000-0001-5208-3432 Increased susceptibility to infection by the protozan parasite of the genus Leishmania. UMLS:C2748501 human_phenotype HP:0007408 Tegumentary leishmaniasis susceptibility HP:0007408 Increased susceptibility to infection by the protozan parasite of the genus Leishmania. https://orcid.org/0000-0002-0736-9199 HP:0003758 human_phenotype HP:0007409 obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs true HP:0007409 An abnormally increased perspiration on palms and soles. HP:0007624 SNOMEDCT_US:403375001 UMLS:C1274743 Excessive sweating of palms and soles Hyperhidrosis of palms and soles human_phenotype HP:0007410 Palmoplantar hyperhidrosis HP:0007410 An abnormally increased perspiration on palms and soles. https://orcid.org/0000-0002-0736-9199 Excessive sweating of palms and soles https://orcid.org/0000-0001-5208-3432 UMLS:C1844617 human_phenotype HP:0007411 Hypoplastic-absent sebaceous glands HP:0007411 UMLS:C4024885 human_phenotype HP:0007412 Macular hyperpigmented dermopathy HP:0007412 Naevus flammeus localized in the skin of the forehead. UMLS:C1848850 Port-wine stain on forehead human_phenotype HP:0007413 Nevus flammeus of the forehead HP:0007413 Naevus flammeus localized in the skin of the forehead. https://orcid.org/0009-0006-4530-3154 Port-wine stain on forehead https://orcid.org/0000-0001-5208-3432 UMLS:C4024884 Wrinkled skin of hands and feet in newborn human_phenotype HP:0007414 Neonatal wrinkled skin of hands and feet HP:0007414 Wrinkled skin of hands and feet in newborn https://orcid.org/0000-0001-5208-3432 true HP:0007415 true HP:0007416 Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. HP:0000981 SNOMEDCT_US:200938002 SNOMEDCT_US:238927000 UMLS:C0024138 Discoid lupus erythematosus human_phenotype HP:0007417 This lesion is characteristic of discoid lupus erythematosus, but similar lesions may be observed in other diseases. Discoid lupus rash HP:0007417 Loss of all scalp hair. SNOMEDCT_US:19754005 UMLS:C0263504 human_phenotype Total alopecia HP:0007418 Alopecia totalis HP:0007418 Loss of all scalp hair. https://orcid.org/0000-0002-0736-9199 true HP:0007419 Spontaneous development of hematomas (hematoma) or bruises without significant trauma. UMLS:C1697453 human_phenotype HP:0007420 Spontaneous hematomas HP:0007420 Spontaneous development of hematomas (hematoma) or bruises without significant trauma. https://orcid.org/0000-0003-2945-4463 Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. UMLS:C3554587 human_phenotype Telangiectasia on the cheeks HP:0007421 Telangiectases of the cheeks HP:0007421 Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. https://orcid.org/0000-0002-0736-9199 Telangiectasia on the cheeks https://orcid.org/0000-0002-5316-1399 true HP:0007422 true HP:0007423 true HP:0007424 UMLS:C4024883 Hyperelastic face skin Stretchable face skin human_phenotype HP:0007425 Hyperextensible skin of face HP:0007425 Hyperelastic face skin https://orcid.org/0000-0001-5208-3432 Stretchable face skin https://orcid.org/0000-0001-5208-3432 true HP:0007426 UMLS:C3279575 UMLS:C3279601 human_phenotype Reticular pigmentation pattern Reticulate skin pigmentation HP:0007427 Reticulated skin pigmentation HP:0007427 Reticular pigmentation pattern https://orcid.org/0000-0002-5316-1399 Reticulate skin pigmentation https://orcid.org/0000-0002-5316-1399 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. UMLS:C4024882 Angioectasia of the oral mucosa Angioectasia of the oral mucous membrane Spider veins of the oral mucosa Telangiectasia of the oral mucous membrane human_phenotype HP:0007428 Telangiectasia of the oral mucosa HP:0007428 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. https://orcid.org/0000-0002-0736-9199 Angioectasia of the oral mucosa https://orcid.org/0000-0001-5889-4463 Angioectasia of the oral mucous membrane https://orcid.org/0000-0001-5889-4463 Spider veins of the oral mucosa https://orcid.org/0000-0001-5889-4463 Telangiectasia of the oral mucous membrane https://orcid.org/0000-0001-5889-4463 The presence of two to five cafe-au-lait macules. UMLS:C4024881 human_phenotype HP:0007429 Few cafe-au-lait spots HP:0007429 The presence of two to five cafe-au-lait macules. https://orcid.org/0000-0003-1773-4011 Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0007575 SNOMEDCT_US:271808008 UMLS:C1850534 Generalised oedema Generalised tissue oedema Generalized tissue edema human_phenotype HP:0007430 Generalized edema HP:0007430 Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. https://orcid.org/0000-0002-0736-9199 Generalised oedema Generalised tissue oedema An ichthyosiform abnormality of the skin with congenital onset. HP:0007478 HP:0007484 SNOMEDCT_US:254156001 SNOMEDCT_US:268282005 UMLS:C0079583 Congenital ichthyosis Ichthyosis, congenital human_phenotype HP:0007431 Congenital ichthyosiform erythroderma HP:0007431 An ichthyosiform abnormality of the skin with congenital onset. https://orcid.org/0000-0002-0736-9199 UMLS:C2749995 Intermittent generalised erythematous papular rash human_phenotype HP:0007432 Intermittent generalized erythematous papular rash HP:0007432 Intermittent generalised erythematous papular rash true HP:0007433 Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. UMLS:C1847884 Hemangioma, facial, plaque-like human_phenotype HP:0007434 Plaque-like facial hemangioma HP:0007434 Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology. https://orcid.org/0000-0002-0736-9199 HP:0007447 human_phenotype HP:0007435 obsolete Diffuse palmoplantar keratoderma true HP:0007435 HP:0000968 human_phenotype HP:0007436 obsolete Hair-nail ectodermal dysplasia true HP:0007436 The presence of multiple leiomyomas of the skin. NCIT:C3157 UMLS:C1708350 human_phenotype HP:0007437 Multiple cutaneous leiomyomas HP:0007437 The presence of multiple leiomyomas of the skin. https://orcid.org/0000-0002-0736-9199 UMLS:C1851551 human_phenotype HP:0007438 Mottled pigmentation of the trunk and proximal extremities HP:0007438 UMLS:C4024879 Generalised keratosis follicularis human_phenotype HP:0007439 Generalized keratosis follicularis HP:0007439 Generalised keratosis follicularis HP:0007540 UMLS:C4024878 Generalised hyperpigmentation human_phenotype HP:0007440 Generalized hyperpigmentation HP:0007440 Generalised hyperpigmentation UMLS:C4024877 human_phenotype HP:0007441 Hyperpigmented/hypopigmented macules HP:0007441 true HP:0007442 Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. HP:0001044 SNOMEDCT_US:6479008 SNOMEDCT_US:718122005 UMLS:C0080024 Congenital partial albinism on face, trunk, or limbs Congenital partial leucoderma Partial absent skin pigmentation human_phenotype HP:0007443 Partial albinism HP:0007443 Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. https://orcid.org/0000-0002-0736-9199 Partial absent skin pigmentation https://orcid.org/0000-0001-5208-3432 true HP:0007444 true HP:0007445 A type of blistering that affects the skin of the palms of the hands and the soles of the feet. UMLS:C4024876 human_phenotype HP:0007446 Palmoplantar blistering HP:0007446 A type of blistering that affects the skin of the palms of the hands and the soles of the feet. https://orcid.org/0000-0002-0736-9199 Diffuse abnormal thickening of the skin on the palms and soles. HP:0007435 UMLS:C4021575 Diffuse palmoplantar keratoderma Hyperkeratosis, diffuse palmoplantar human_phenotype HP:0007447 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. Diffuse palmoplantar hyperkeratosis HP:0007447 Diffuse abnormal thickening of the skin on the palms and soles. PMID:17298101 UMLS:C1835253 human_phenotype HP:0007448 Hyperkeratosis over edematous areas HP:0007448 UMLS:C1851705 human_phenotype HP:0007449 Confetti-like hypopigmented macules HP:0007449 UMLS:C4024875 human_phenotype HP:0007450 Increased groin pigmentation with raindrop depigmentation HP:0007450 Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome. UMLS:C4024874 human_phenotype HP:0007451 Ipsilateral lack of facial sweating HP:0007451 Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome. PMID:29763176 HP:0007611 UMLS:C1849377 Midfacial capillary hemangioma human_phenotype HP:0007452 Midface capillary hemangioma HP:0007452 Lichenification affecting primarily flexural areas of the skin. UMLS:C4024873 Lichenification in skin folds human_phenotype HP:0007453 The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. Flexural lichenification HP:0007453 Lichenification affecting primarily flexural areas of the skin. https://orcid.org/0000-0002-0736-9199 true HP:0007454 UMLS:C1852150 human_phenotype HP:0007455 Adermatoglyphia HP:0007455 UMLS:C4024872 human_phenotype HP:0007456 Progressive reticulate hyperpigmentation HP:0007456 Prominent thoracic and abdominal veins. UMLS:C4024871 human_phenotype HP:0007457 Prominent veins on trunk HP:0007457 Prominent thoracic and abdominal veins. https://orcid.org/0000-0002-0736-9199 UMLS:C4024870 human_phenotype HP:0007458 Focal hyperextensible skin HP:0007458 UMLS:C4024869 Generalised anhidrosis Generalised anhydrosis Generalised inability to sweat Generalized anhydrosis Generalized inability to sweat human_phenotype HP:0007459 Generalized anhidrosis HP:0007459 Generalised anhidrosis Generalised anhydrosis Generalised inability to sweat Generalized inability to sweat https://orcid.org/0000-0001-5208-3432 The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. UMLS:C1852289 human_phenotype HP:0007460 Autoamputation of digits HP:0007460 SNOMEDCT_US:254785001 SNOMEDCT_US:47669001 UMLS:C1384590 human_phenotype HP:0007461 Hemangiomatosis HP:0007461 Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. SNOMEDCT_US:246871006 UMLS:C0423178 UMLS:C4024868 human_phenotype Bitot's spots HP:0007462 Bitot spots can be a feature of vitamin A deficiency. Bitot spots of the conjunctiva HP:0007462 Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. https://orcid.org/0000-0002-0736-9199 true HP:0007463 Reduced number or density of facial hair. UMLS:C2017869 Sparse facial hair human_phenotype HP:0007464 Sparse facial hair HP:0007464 Reduced number or density of facial hair. https://orcid.org/0000-0002-0736-9199 Sparse facial hair Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. UMLS:C1866032 human_phenotype HP:0007465 Honeycomb palmoplantar hyperkeratosis HP:0007465 Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. PMID:9326323 UMLS:C1859339 human_phenotype HP:0007466 Midfrontal capillary hemangioma HP:0007466 true HP:0007467 Increased amount of keratin (visible as white scales) surrounding hair follicles. UMLS:C4024867 human_phenotype HP:0007468 Perifollicular hyperkeratosis HP:0007468 Increased amount of keratin (visible as white scales) surrounding hair follicles. PMID:23044575 Cutis gyrata of palms and soles. UMLS:C1851797 Cutis gyrata of palms and soles human_phenotype HP:0007469 Palmoplantar cutis gyrata HP:0007469 Cutis gyrata of palms and soles. https://orcid.org/0000-0002-0736-9199 Subcutaneous nodules that are located in the vicinity of joints. UMLS:C3806306 human_phenotype HP:0007470 Periarticular subcutaneous nodules HP:0007470 Subcutaneous nodules that are located in the vicinity of joints. https://orcid.org/0000-0002-0736-9199 UMLS:C4024866 human_phenotype HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation HP:0007471 true HP:0007472 UMLS:C1868496 human_phenotype HP:0007473 Crusting erythematous dermatitis HP:0007473 true HP:0007474 An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. SNOMEDCT_US:239071005 SNOMEDCT_US:254167000 UMLS:C0079153 Bullous congenital ichthyosiform erythroderma Epidermolytic hyperkeratosis human_phenotype HP:0007475 Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. Congenital bullous ichthyosiform erythroderma HP:0007475 An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:7731005 UMLS:C1706004 human_phenotype HP:0007476 Anhidrotic ectodermal dysplasia HP:0007476 An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. HP:0007422 SNOMEDCT_US:83145004 UMLS:C0432333 Abnormal fingerprints Dermatoglyphic abnormalities human_phenotype HP:0007477 Abnormal dermatoglyphics HP:0007477 An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. https://orcid.org/0000-0002-0736-9199 Abnormal fingerprints https://orcid.org/0000-0001-5208-3432 true HP:0007478 The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. HP:0001021 HP:0007388 HP:0007512 HP:0007619 HP:0007625 SNOMEDCT_US:205550003 SNOMEDCT_US:267372009 SNOMEDCT_US:268245001 UMLS:C0079154 Collodion baby Congenital lamellar ichthyosis Congenital non-bullous ichthyosis Ichthyosis lammellaris Ichthyosis, congenital, nonblistering Nonbullous congenital ichthyosiform erythroderma Nonbullous congenital ichthyosis human_phenotype HP:0007479 A collodion membrane is characterized by thick scaling of the skin, frequently associated with fissures and hyperkeratosis. Also, eclabium and ectropion are often seen, as are contractures of fingers and toes. A collodion membrane is mainly associated with underlying congenital ichthyosis (congenital epidermal differentiation disorders). Congenital nonbullous ichthyosiform erythroderma HP:0007479 The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. https://orcid.org/0009-0006-4530-3154 UMLS:C1868527 human_phenotype HP:0007480 Decreased sweating due to autonomic dysfunction HP:0007480 UMLS:C0746889 human_phenotype HP:0007481 Hyperpigmented nevi HP:0007481 UMLS:C4024865 Generalised papillary lesions human_phenotype HP:0007482 Generalized papillary lesions HP:0007482 Generalised papillary lesions UMLS:C4024864 human_phenotype HP:0007483 Depigmentation/hyperpigmentation of skin HP:0007483 true HP:0007484 Lack of subcutaneous adipose tissue. HP:0007519 UMLS:C0241267 UMLS:C4024855 Absent fat below the skin General absence of subcutaneous fat Lack of fatty tissue below the skin human_phenotype HP:0007485 Absence of subcutaneous fat HP:0007485 Lack of subcutaneous adipose tissue. https://orcid.org/0000-0002-0736-9199 Absent fat below the skin https://orcid.org/0000-0001-5208-3432 Lack of fatty tissue below the skin NCIT:C3086 UMLS:C1332863 human_phenotype HP:0007486 Cavernous hemangioma of the face HP:0007486 true HP:0007487 UMLS:C4024863 human_phenotype HP:0007488 Diffuse skin atrophy HP:0007488 Telangiectases (small dilated blood vessels) with a diffuse localization. HP:0007405 SNOMEDCT_US:125279001 UMLS:C1265776 Diffuse telangiectases Telangiectases, random body distribution human_phenotype HP:0007489 Diffuse telangiectasia HP:0007489 Telangiectases (small dilated blood vessels) with a diffuse localization. https://orcid.org/0000-0002-0736-9199 UMLS:C1866031 human_phenotype HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas HP:0007490 true HP:0007491 true HP:0007492 true HP:0007493 UMLS:C1851552 human_phenotype HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules HP:0007494 HP:0001599 UMLS:C1857656 Precociously senile appearance Prematurely aged appearance human_phenotype HP:0007495 Prematurely aged appearance HP:0007495 Precociously senile appearance Prematurely aged appearance true HP:0007496 Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. UMLS:C1835654 Hyperkeratosis, palmoplantar, focal friction-related human_phenotype HP:0007497 Focal friction-related palmoplantar hyperkeratosis HP:0007497 Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. https://orcid.org/0000-0002-0736-9199 true HP:0007498 Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. UMLS:C4024862 Recurrent staphylococcal infections human_phenotype HP:0007499 Recurrent staphylococcal infections HP:0007499 Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. https://orcid.org/0000-0001-7941-2961 Recurrent staphylococcal infections The presence of fewer than normal sweat glands. HP:0007555 HP:0007594 UMLS:C4021574 Decreased sweat glands Decreased sweat pores human_phenotype HP:0007500 Decreased number of sweat glands HP:0007500 The presence of fewer than normal sweat glands. https://orcid.org/0000-0002-0736-9199 Decreased sweat glands Decreased sweat pores UMLS:C4024861 human_phenotype HP:0007501 Streaks of hyperkeratosis along each finger onto the palm HP:0007501 A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. HP:0007600 SNOMEDCT_US:238629004 SNOMEDCT_US:402341008 SNOMEDCT_US:81845009 UMLS:C0334013 Hyperkeratosis follicularis human_phenotype HP:0007502 Follicular hyperkeratosis HP:0007502 A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. https://orcid.org/0000-0002-0736-9199 UMLS:C3552528 Generalised ichthyosis human_phenotype HP:0007503 Generalized ichthyosis HP:0007503 Generalised ichthyosis UMLS:C4024860 human_phenotype HP:0007504 Diffuse slow skin atrophy HP:0007504 UMLS:C4024859 human_phenotype HP:0007505 Progressive hyperpigmentation HP:0007505 UMLS:C4024858 Missing skin on limbs since birth human_phenotype HP:0007506 Congenital absence of skin of limbs HP:0007506 Missing skin on limbs since birth https://orcid.org/0000-0001-5208-3432 true HP:0007507 Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands. UMLS:C4024857 human_phenotype HP:0007508 Punctate palmar hyperkeratosis HP:0007508 HP:0007487 UMLS:C4021573 Patchy hypo- and hyper-pigmentation human_phenotype HP:0007509 Patchy hypo- and hyperpigmentation HP:0007509 UMLS:C1834069 human_phenotype HP:0007510 Focal dermal aplasia/hypoplasia HP:0007510 UMLS:C3151964 human_phenotype HP:0007511 Mottled pigmentation of photoexposed areas HP:0007511 true HP:0007512 HP:0000984 HP:0007419 UMLS:C1849923 Fair skin Generalised hypopigmentation Pale pigmentation human_phenotype HP:0007513 Generalized hypopigmentation HP:0007513 Fair skin Generalised hypopigmentation Pale pigmentation An abnormal accumulation of fluid beneath the skin on the back of the hands. HP:0007528 MEDDRA:10058204 SNOMEDCT_US:443710002 UMLS:C2732374 UMLS:C2751873 Edema of dorsum of hands Oedema of dorsum of hands Oedema of the dorsum of hands human_phenotype HP:0007514 Edema of the dorsum of hands HP:0007514 An abnormal accumulation of fluid beneath the skin on the back of the hands. https://orcid.org/0000-0002-0736-9199 MEDDRA:10058204 Oedema hands Oedema of dorsum of hands Oedema of the dorsum of hands UMLS:C1832454 human_phenotype HP:0007515 Hypoplastic pilosebaceous units HP:0007515 Loose and sagging skin of the fingers. UMLS:C4024856 Extra skin on fingers human_phenotype HP:0007516 Redundant skin on fingers HP:0007516 Loose and sagging skin of the fingers. https://orcid.org/0000-0002-0736-9199 Extra skin on fingers https://orcid.org/0000-0001-5208-3432 Loose, wrinkled skin of hands and feet. HP:0001016 UMLS:C1856714 Excessive wrinkled skin of palms and soles Furrowed palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled skin of hands and feet human_phenotype HP:0007517 Palmoplantar cutis laxa HP:0007517 Loose, wrinkled skin of hands and feet. https://orcid.org/0000-0002-0736-9199 Excessive wrinkled skin of palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled skin of hands and feet true HP:0007518 HP:0007485 human_phenotype HP:0007519 obsolete Lack of subcutaneous fatty tissue true HP:0007519 true HP:0007520 UMLS:C4024854 human_phenotype HP:0007521 Irregular hyperpigmentation of back HP:0007521 UMLS:C4024853 Increased number of skin folds human_phenotype HP:0007522 Increased number of skin folds HP:0007522 Increased number of skin folds true HP:0007523 UMLS:C0220695 human_phenotype HP:0007524 Atypical neurofibromatosis HP:0007524 UMLS:C1850533 human_phenotype HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin HP:0007525 UMLS:C4024852 Hypopigmented upper extremeity skin patches Patchy loss of skin color on arms Patchy loss of skin colour on arms human_phenotype HP:0007526 Hypopigmented skin patches on arms HP:0007526 Patchy loss of skin color on arms https://orcid.org/0000-0001-5208-3432 Patchy loss of skin colour on arms true HP:0007527 true HP:0007528 SNOMEDCT_US:54209007 UMLS:C0162361 human_phenotype HP:0007529 Hidrotic ectodermal dysplasia HP:0007529 UMLS:C4024851 human_phenotype HP:0007530 Punctate palmoplantar hyperkeratosis HP:0007530 true HP:0007531 true HP:0007532 true HP:0007533 Loss of hair in the occipital region of the scalp with congenital onset. UMLS:C4024850 human_phenotype HP:0007534 Congenital posterior occipital alopecia HP:0007534 Loss of hair in the occipital region of the scalp with congenital onset. https://orcid.org/0000-0002-0736-9199 UMLS:C1866244 human_phenotype HP:0007535 Hypopigmented streaks HP:0007535 UMLS:C4024849 human_phenotype HP:0007536 Aplasia cutis congenita of midline scalp vertex HP:0007536 A severe degree of photosensitivity of the skin. UMLS:C1849186 Severe sun sensitivity human_phenotype HP:0007537 Severe photosensitivity HP:0007537 A severe degree of photosensitivity of the skin. https://orcid.org/0000-0002-0736-9199 Severe sun sensitivity https://orcid.org/0000-0001-5208-3432 true HP:0007538 true HP:0007539 true HP:0007540 Presence of a cutaneous lipoma on the forehead. NCIT:C3192 UMLS:C1850970 human_phenotype HP:0007541 Frontal cutaneous lipoma HP:0007541 Presence of a cutaneous lipoma on the forehead. https://orcid.org/0000-0002-0736-9199 Lack of skin pigmentation (coloring) of the anterior chest. UMLS:C4024848 human_phenotype HP:0007542 Absent pigmentation of the ventral chest HP:0007542 Lack of skin pigmentation (coloring) of the anterior chest. https://orcid.org/0000-0002-0736-9199 HP:0000962 UMLS:C1848773 Increased thickness of skin epidermis human_phenotype HP:0007543 obsolete Epidermal hyperkeratosis true HP:0007543 Increased thickness of skin epidermis https://orcid.org/0000-0001-5208-3432 Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. SNOMEDCT_US:6479008 SNOMEDCT_US:718122005 UMLS:C0080024 Piebaldism human_phenotype HP:0007544 Piebaldism (OMIM:172800) generally is characterized by both Piebald skin depigmentation and White forelock, which should be coded separately. Piebald skin depigmentation HP:0007544 Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules. https://orcid.org/0000-0002-0736-9199 Abnormal thickening of the skin on the palms and soles that is present at birth. HP:0007597 UMLS:C1855633 Congenital palmoplantar keratoderma Congenital palmoplantar keratodermia Congenital palmoplantar keratosis human_phenotype HP:0007545 Congenital palmoplantar hyperkeratosis HP:0007545 UMLS:C3278658 human_phenotype HP:0007546 Linear hyperpigmentation HP:0007546 true HP:0007547 HP:0000972 human_phenotype HP:0007548 obsolete Palmoplantar keratosis with erythema and scale true HP:0007548 UMLS:C1842714 human_phenotype HP:0007549 Desquamation of skin soon after birth HP:0007549 UMLS:C4021831 Lack of sweating or excessive sweating human_phenotype HP:0007550 Hypohidrosis or hyperhidrosis HP:0007550 Lack of sweating or excessive sweating https://orcid.org/0000-0001-5208-3432 true HP:0007551 UMLS:C1859347 Abnormal fat tissue distribution below the skin human_phenotype HP:0007552 Abnormal subcutaneous fat tissue distribution HP:0007552 Abnormal fat tissue distribution below the skin https://orcid.org/0000-0001-5208-3432 UMLS:C1855459 human_phenotype HP:0007553 Congenital symmetrical palmoplantar keratosis HP:0007553 UMLS:C4024847 Confetti hypopigmentation pattern of lower leg skin human_phenotype HP:0007554 Confetti hypopigmentation pattern of lower leg skin HP:0007554 Confetti hypopigmentation pattern of lower leg skin true HP:0007555 Hyperkeratosis affecting the sole of the foot. HP:0007382 HP:0007445 UMLS:C1856954 Plantar hyperkeratoses human_phenotype HP:0007556 Plantar hyperkeratosis HP:0007556 Hyperkeratosis affecting the sole of the foot. https://orcid.org/0000-0002-0736-9199 true HP:0007557 true HP:0007558 UMLS:C1721006 Localised epidermolytic hyperkeratosis human_phenotype HP:0007559 Localized epidermolytic hyperkeratosis HP:0007559 Localised epidermolytic hyperkeratosis UMLS:C4024846 human_phenotype HP:0007560 Unusual dermatoglyphics HP:0007560 HP:0100585 human_phenotype HP:0007561 obsolete Telangiectases in sun-exposed and nonexposed skin true HP:0007561 true HP:0007562 true HP:0007563 true HP:0007564 The presence of six or more cafe-au-lait spots. HP:0007416 Multiple birthmarks Multiple flat light-brown marks on skin UMLS:C1861975 human_phenotype HP:0007565 Multiple cafe-au-lait spots HP:0007565 The presence of six or more cafe-au-lait spots. https://orcid.org/0000-0003-1773-4011 Multiple birthmarks Multiple flat light-brown marks on skin https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 UMLS:C4024845 human_phenotype HP:0007566 Index finger dermatoglyphic radial loop HP:0007566 true HP:0007567 true HP:0007568 Seborrheic dermatitis that is not localized to any one particular region. UMLS:C4024844 Generalised seborrheic dermatitis Generalised seborrheic eczema Generalized seborrheic eczema human_phenotype HP:0007569 Generalized seborrheic dermatitis HP:0007569 Generalised seborrheic dermatitis Generalised seborrheic eczema Generalized seborrheic eczema https://orcid.org/0000-0001-5208-3432 Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. SNOMEDCT_US:28488007 UMLS:C0263420 human_phenotype Flegel disease HP:0007570 Hyperkeratosis lenticularis perstans HP:0007570 Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa. https://orcid.org/0000-0002-0736-9199 true HP:0007571 UMLS:C1866245 human_phenotype HP:0007572 Hyperpigmented streaks HP:0007572 A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. UMLS:C4024843 UMLS:C4280439 human_phenotype Late onset baby eczema HP:0007573 Late onset atopic dermatitis HP:0007573 A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis. PMID:23984225 PMID:27904186 Late onset baby eczema https://orcid.org/0000-0001-6908-9849 Bronze skin UMLS:C2939074 UMLS:C4024842 Generalised bronze hyperpigmentation human_phenotype HP:0007574 Generalized bronze hyperpigmentation HP:0007574 Bronze skin https://orcid.org/0000-0001-5208-3432 Generalised bronze hyperpigmentation true HP:0007575 A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand. UMLS:C4024841 Palmar neurofibromas human_phenotype HP:0007576 Palmar neurofibroma HP:0007576 Palmar neurofibromas true HP:0007577 true HP:0007578 true HP:0007579 true HP:0007580 UMLS:C4024840 human_phenotype HP:0007581 Mediosternal, longitudinal streak of hypopigmentation HP:0007581 true HP:0007582 SNOMEDCT_US:8214000 UMLS:C0263402 human_phenotype HP:0007583 Telangiectasia macularis eruptiva perstans HP:0007583 true HP:0007584 UMLS:C1851562 human_phenotype HP:0007585 Skin fragility with non-scarring blistering HP:0007585 UMLS:C4024839 human_phenotype HP:0007586 Telangiectases producing 'marbled' skin HP:0007586 UMLS:C1968565 Numerous pigmented freckles human_phenotype HP:0007587 Numerous pigmented freckles HP:0007587 Numerous pigmented freckles Increased pigmentation of the skin with a netlike (reticular) pattern. HP:0007579 UMLS:C1851972 Reticulate hyperpigmentation human_phenotype HP:0007588 Reticular hyperpigmentation HP:0007588 Increased pigmentation of the skin with a netlike (reticular) pattern. https://orcid.org/0000-0002-0736-9199 A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. UMLS:C1863496 human_phenotype HP:0007589 In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. Aplasia cutis congenita on trunk or limbs HP:0007589 A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. https://orcid.org/0000-0002-0736-9199 UMLS:C1863495 human_phenotype HP:0007590 Aplasia cutis congenita over posterior parietal area HP:0007590 true HP:0007591 Absence or developmental hypoplasia of the eccrine sweat glands. UMLS:C1844618 Hypoplastic-absent eccrine sweat glands human_phenotype HP:0007592 Aplasia/Hypoplasia of the eccrine sweat glands HP:0007592 Absence or developmental hypoplasia of the eccrine sweat glands. https://orcid.org/0000-0002-0736-9199 true HP:0007593 true HP:0007594 UMLS:C1835587 Excess skin in infancy human_phenotype HP:0007595 Redundant skin in infancy HP:0007595 Excess skin in infancy https://orcid.org/0000-0001-5208-3432 The presence of multiple subcutaneous lipoma that cause pain. UMLS:C4024838 Painful noncancerous fat tissue tumor under the skin Painful noncancerous fat tissue tumour under the skin human_phenotype HP:0007596 Painful subcutaneous lipomas HP:0007596 The presence of multiple subcutaneous lipoma that cause pain. https://orcid.org/0000-0002-0736-9199 Painful noncancerous fat tissue tumor under the skin https://orcid.org/0000-0002-6548-5200 Painful noncancerous fat tissue tumour under the skin HP:0007545 human_phenotype HP:0007597 obsolete Congenital palmoplantar keratodermia true HP:0007597 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. UMLS:C1862095 human_phenotype HP:0007598 Bilateral single transverse palmar creases HP:0007598 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. https://orcid.org/0000-0002-0736-9199 UMLS:C4024836 Generalised reticulate brown pigmentation human_phenotype HP:0007599 Generalized reticulate brown pigmentation HP:0007599 Generalised reticulate brown pigmentation true HP:0007600 UMLS:C1840310 human_phenotype HP:0007601 Midline facial capillary hemangioma HP:0007601 UMLS:C4024835 human_phenotype HP:0007602 Complex palmar dermatoglyphic pattern HP:0007602 UMLS:C1859923 Freckles in sun-exposed areas human_phenotype HP:0007603 Freckles in sun-exposed areas HP:0007603 Freckles in sun-exposed areas true HP:0007604 HP:0007531 UMLS:C4021572 Redundant, wrinkled skin of palms human_phenotype HP:0007605 Excessive wrinkling of palmar skin HP:0007605 Redundant, wrinkled skin of palms UMLS:C4024834 human_phenotype HP:0007606 Multiple cutaneous malignancies HP:0007606 SNOMEDCT_US:239007005 SNOMEDCT_US:7731005 UMLS:C0162359 human_phenotype HP:0007607 Hypohidrotic ectodermal dysplasia HP:0007607 UMLS:C4024833 human_phenotype HP:0007608 Abnormal palmar dermal ridges HP:0007608 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). UMLS:C4024832 Hypoproteinemic oedema human_phenotype HP:0007609 Hypoproteinemic edema HP:0007609 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). https://orcid.org/0000-0002-0736-9199 Hypoproteinemic oedema UMLS:C4024831 human_phenotype HP:0007610 Blotching pigmentation of the skin HP:0007610 true HP:0007611 true HP:0007612 UMLS:C4024830 human_phenotype HP:0007613 Spinous keratoses of palms and soles HP:0007613 true HP:0007614 true HP:0007615 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. UMLS:C0860468 UMLS:C4024829 UMLS:C4280438 Port-wine stain on neck Stork bite human_phenotype Angel's kiss Salmon patch HP:0007616 The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area. Nevus flammeus nuchae HP:0007616 Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns. https://orcid.org/0009-0006-4530-3154 Port-wine stain on neck https://orcid.org/0000-0001-5208-3432 Stork bite https://orcid.org/0000-0001-6908-9849 Angel's kiss https://orcid.org/0000-0001-6908-9849 Salmon patch https://orcid.org/0000-0001-6908-9849 UMLS:C4024828 human_phenotype HP:0007617 Fine, reticulate skin pigmentation HP:0007617 Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). SNOMEDCT_US:17141001 UMLS:C0263625 Skin calcification human_phenotype HP:0007618 Subcutaneous calcification HP:0007618 Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). https://orcid.org/0000-0002-0736-9199 Skin calcification true HP:0007619 The presence of leiomyoma of the skin. HP:0007507 NCIT:C3157 SNOMEDCT_US:254767008 UMLS:C0346064 Cutaneous leiomyomas Cutaneous leiomyomata human_phenotype HP:0007620 Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. Cutaneous leiomyoma HP:0007620 The presence of leiomyoma of the skin. https://orcid.org/0000-0002-0736-9199 UMLS:C4024827 human_phenotype HP:0007621 Telangiectasia of extensor surfaces HP:0007621 true HP:0007622 UMLS:C4024826 Abnormal pigmentation in sun-exposed skin human_phenotype HP:0007623 Pigmentation anomalies of sun-exposed skin HP:0007623 Abnormal pigmentation in sun-exposed skin https://orcid.org/0000-0001-5208-3432 true HP:0007624 true HP:0007625 Osteomyelitis of the lower jaw. HP:0005869 SNOMEDCT_US:109695005 UMLS:C1290708 Lower jaw bone infection Osteomyelitis, especially of the mandible human_phenotype HP:0007626 Mandibular osteomyelitis HP:0007626 Lower jaw bone infection SNOMEDCT_US:235119009 UMLS:C0399570 UMLS:C4280429 UMLS:C4280430 UMLS:C4280431 UMLS:C4280432 UMLS:C4280433 UMLS:C4280434 UMLS:C4280435 UMLS:C4280436 UMLS:C4280437 Underdevelopment of condylar process of mandible Absence of the condylar head of mandible Absence of the condylar neck of mandible Absence of the condylar process of mandible Failure of development of condylar head of mandible Failure of development of condylar neck of mandible Failure of development of the condylar process of mandible Underdevelopment of condylar head of mandible Underdevelopment of condylar neck of mandible human_phenotype Agenesis of condylar head of mandible Agenesis of condylar neck of mandible Agenesis of condylar process of mandible HP:0007627 Mandibular condyle aplasia HP:0007627 Underdevelopment of condylar process of mandible https://orcid.org/0000-0001-5889-4463 Absence of the condylar head of mandible https://orcid.org/0000-0001-5889-4463 Absence of the condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Absence of the condylar process of mandible https://orcid.org/0000-0001-5889-4463 Failure of development of condylar head of mandible https://orcid.org/0000-0001-5889-4463 Failure of development of condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Failure of development of the condylar process of mandible https://orcid.org/0000-0001-5889-4463 Underdevelopment of condylar head of mandible https://orcid.org/0000-0001-5889-4463 Underdevelopment of condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Agenesis of condylar head of mandible https://orcid.org/0000-0001-5889-4463 Agenesis of condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Agenesis of condylar process of mandible https://orcid.org/0000-0001-5889-4463 SNOMEDCT_US:235120003 UMLS:C0399572 UMLS:C4280423 UMLS:C4280424 UMLS:C4280425 UMLS:C4280426 UMLS:C4280427 UMLS:C4280428 Decreased size of condylar process of mandible Decreased size of mandibular condyle Hypoplasia of condylar process of mandible Hypoplasia of mandibular condyle Hypoplasia of subcondylar region of mandible Small mandibular condyle Hypoplasia of condylar head of mandible Hypoplasia of condylar neck of mandible Small condylar head of mandible Small condylar neck of mandible human_phenotype Hypotrophic condylar process of mandible Hypotrophic mandibular condyle HP:0007628 Mandibular condyle hypoplasia HP:0007628 Decreased size of condylar process of mandible https://orcid.org/0000-0001-5889-4463 Decreased size of mandibular condyle https://orcid.org/0000-0001-5889-4463 Hypoplasia of condylar process of mandible https://orcid.org/0000-0001-5889-4463 Hypoplasia of mandibular condyle https://orcid.org/0000-0001-5889-4463 Hypoplasia of subcondylar region of mandible https://orcid.org/0000-0001-5889-4463 Small mandibular condyle https://orcid.org/0000-0001-5889-4463 Hypoplasia of condylar head of mandible https://orcid.org/0000-0001-5889-4463 Hypoplasia of condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Small condylar head of mandible https://orcid.org/0000-0001-5889-4463 Small condylar neck of mandible https://orcid.org/0000-0001-5889-4463 Hypotrophic condylar process of mandible https://orcid.org/0000-0001-5889-4463 Hypotrophic mandibular condyle https://orcid.org/0000-0001-5889-4463 true HP:0007629 true HP:0007630 true HP:0007631 true HP:0007632 A developmental anomaly characterized by abnormal smallness of both eyes. HP:0001143 HP:0001585 Decreased size of both eyeballs Decreased size of globes of eyes UMLS:C1843496 UMLS:C4280421 UMLS:C4280422 Abnormally small eyeball on both sides Microphthalmia, bilateral Bilateral nanophthalmos human_phenotype HP:0007633 Bilateral microphthalmos HP:0007633 A developmental anomaly characterized by abnormal smallness of both eyes. https://orcid.org/0000-0002-0736-9199 Decreased size of both eyeballs https://orcid.org/0000-0001-5889-4463 Decreased size of globes of eyes https://orcid.org/0000-0001-5889-4463 Abnormally small eyeball on both sides https://orcid.org/0000-0001-5889-4463 Bilateral nanophthalmos https://orcid.org/0000-0001-5889-4463 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. UMLS:C1852242 Nonarteritic anterior ischaemic optic neuropathy human_phenotype HP:0007634 Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling. Nonarteritic anterior ischemic optic neuropathy HP:0007634 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. PMID:17698200 https://orcid.org/0000-0002-0736-9199 Nonarteritic anterior ischaemic optic neuropathy true HP:0007635 true HP:0007636 true HP:0007637 true HP:0007638 true HP:0007639 true HP:0007640 A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. UMLS:C0858618 Color blindness Colour blindness human_phenotype HP:0007641 Dyschromatopsia HP:0007641 A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. HPO_CONTRIBUTOR:DDD_ncarter Color blindness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Colour blindness A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. HP:0007684 HP:0007861 HP:0007953 HP:0030638 HP:0030639 HP:0030640 HP:0030641 SNOMEDCT_US:193687000 SNOMEDCT_US:232061009 UMLS:C1306122 UMLS:C3551052 UMLS:C4048798 Congenital night blindness Congenital stationary night blindness Night blindness since birth human_phenotype Night blindness, congenital Night blindness, congenital stationary Night blindness, congenital stationary, complete Night blindness, stationary HP:0007642 Congenital stationary night blindness is the result of either dysfunction of the rod photoreceptors or synaptic transmission. This term was previously called Congenital stationary night blindness. The terms hemeralopia and nyctalopia are deliberately not used, as they mean different things in different languages. The fundus can be either normal or abnormal, such as fundus with white dots in fundus albipunctatus, or a golden sheen in light-adapted state in Oguchi disease, which disappears with dark-adaptation (Mizuo-Nakamura phenomenon). Early-onset non-progressive night blindness HP:0007642 A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. https://orcid.org/0000-0002-0736-9199 Night blindness since birth https://orcid.org/0000-0001-5208-3432 Night blindness, congenital https://orcid.org/0000-0002-5316-1399 Night blindness, congenital stationary https://orcid.org/0000-0002-5316-1399 Night blindness, congenital stationary, complete https://orcid.org/0000-0002-5316-1399 Night blindness, stationary https://orcid.org/0000-0002-5316-1399 Tractional retinal detachment at the periphery of the retina. UMLS:C4024825 Peripheral traction retinal detachment Tractional retinal detachment at the periphery of the retina human_phenotype HP:0007643 Peripheral tractional retinal detachment HP:0007643 true HP:0007644 true HP:0007645 Lack of eyelashes on the lower lid. UMLS:C4024824 Absent lower eyelashes Atrichia of lower eyelashes Failure of development of lower eyelashes Agenesis of lower eyelashes Aplasia of lower eyelashes human_phenotype HP:0007646 Absent lower eyelashes HP:0007646 Lack of eyelashes on the lower lid. https://orcid.org/0000-0002-0736-9199 Absent lower eyelashes Failure of development of lower eyelashes https://orcid.org/0000-0001-5889-4463 Agenesis of lower eyelashes https://orcid.org/0000-0001-5889-4463 Aplasia of lower eyelashes https://orcid.org/0000-0001-5889-4463 Congenital abnormality of the extraocular muscles. UMLS:C4024823 human_phenotype HP:0007647 Congenital extraocular muscle anomaly HP:0007647 Congenital abnormality of the extraocular muscles. https://orcid.org/0000-0002-0736-9199 A type of cataract with punctate opacities of the lens. SNOMEDCT_US:40714009 UMLS:C0271165 UMLS:C1969675 human_phenotype Punctate lenticular opacities HP:0007648 Punctate cataract HP:0007648 A type of cataract with punctate opacities of the lens. https://orcid.org/0000-0002-0736-9199 Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral. SNOMEDCT_US:232074003 UMLS:C0339555 human_phenotype HP:0007649 This feature is found in around 1-2% of the population and is of no functional significance. Congenital hypertrophy of retinal pigment epithelium HP:0007649 Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral. HPO_CONTRIBUTOR:DDD_ncarter PMID:35015449 UMLS:C2062713 human_phenotype HP:0007650 Progressive ophthalmoplegia HP:0007650 Lower eyelid folded out SNOMEDCT_US:95758006 UMLS:C0521736 UMLS:C4020808 Lower eyelid turned out human_phenotype Everted lower eyelids HP:0007651 Ectropion of lower eyelids HP:0007651 Lower eyelid folded out https://orcid.org/0000-0001-5889-4463 Lower eyelid turned out https://orcid.org/0000-0001-5889-4463 true HP:0007652 true HP:0007653 HP:0007922 human_phenotype HP:0007654 obsolete Retinal striation true HP:0007654 UMLS:C1835801 human_phenotype HP:0007655 Eversion of lateral third of lower eyelids HP:0007655 A congenital defect of development characterized by absence of the lacrimal gland. UMLS:C4024822 Absent tear gland human_phenotype HP:0007656 Lacrimal gland aplasia HP:0007656 A congenital defect of development characterized by absence of the lacrimal gland. https://orcid.org/0000-0002-0736-9199 Absent tear gland https://orcid.org/0000-0001-5208-3432 Opacity of the entire lens nucleus. UMLS:C4024821 human_phenotype HP:0007657 Diffuse nuclear cataract HP:0007657 Opacity of the entire lens nucleus. https://orcid.org/0000-0002-0736-9199 UMLS:C4024820 human_phenotype HP:0007658 Large hyperpigmented retinal spots HP:0007658 HP:0007703 human_phenotype HP:0007659 obsolete Decreased retinal pigmentation with dispersion true HP:0007659 true HP:0007660 UMLS:C4024819 human_phenotype HP:0007661 Abnormality of chorioretinal pigmentation HP:0007661 true HP:0007662 HP:0001091 HP:0007693 HP:0007739 HP:0007969 HP:0008008 SNOMEDCT_US:13164000 UMLS:C0234632 Decreased central vision Decreased clarity of vision Decreased visual acuity Poor visual acuity human_phenotype HP:0007663 Reduced visual acuity HP:0007663 Decreased clarity of vision https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0007664 Abnormally curly or curved eyelashes. UMLS:C2673670 Curly eyelashes human_phenotype HP:0007665 Curly eyelashes HP:0007665 Abnormally curly or curved eyelashes. https://orcid.org/0000-0002-0736-9199 Curly eyelashes true HP:0007666 Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. UMLS:C1839362 Cystic retinal degeneration Peripheral cystoid degeneration human_phenotype HP:0007667 Peripheral cystoid retinal degeneration HP:0007667 Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. https://orcid.org/0000-0003-0986-4123 UMLS:C1969722 human_phenotype HP:0007668 Impaired pursuit initiation and maintenance HP:0007668 true HP:0007669 An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. UMLS:C4021571 Abnormal vestibuloocular reflex human_phenotype HP:0007670 Abnormal vestibulo-ocular reflex HP:0007670 An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. PMID:3625219 https://orcid.org/0000-0002-0736-9199 true HP:0007671 true HP:0007672 true HP:0007673 true HP:0007674 UMLS:C4024818 Progressive night blindness human_phenotype HP:0007675 Progressive night blindness HP:0007675 Progressive night blindness Congenital underdevelopment of the iris. HP:0000638 HP:0007724 HP:0007998 SNOMEDCT_US:95714006 UMLS:C0344539 Hypoplastic iris Iris hypoplasia Underdeveloped iris human_phenotype HP:0007676 Hypoplasia of the iris HP:0007676 Congenital underdevelopment of the iris. https://orcid.org/0000-0002-0736-9199 Underdeveloped iris https://orcid.org/0000-0001-5208-3432 Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated. HP:0007878 SNOMEDCT_US:90036004 UMLS:C0339510 UMLS:C4024817 Vitelliform macular lesions Vitelliform-like macular lesions human_phenotype Vitelliform macular dystrophy HP:0007677 Vitelliform macular lesions can be observed in Bestrophinopathies (Best vitelliform macular dystrophy and Autosomal recessive Bestrophinopathy), IMPG1 and IMPG2-related maculopathies, paraneoplastic or idiopathic vitelliform maculopathies, serous chorioretinopathy, dome-shaped maculopathy and toxic maculopathies (e.g. MEK-inhibitors induced). Vitelliform macular lesion HP:0007677 Egg yolk-like (vitelliform) maculopathy is a lesion caused by the accumulation of material, often lipofuscin, in the subretinal space underlying the macula. Lesions may be singular or multiple, and may be either sharply or poorly demarcated. PMID:18289629 https://orcid.org/0000-0001-8727-6592 Vitelliform macular lesions Vitelliform-like macular lesions Narrowing of a tear duct (lacrimal duct). HP:0007669 SNOMEDCT_US:231841004 UMLS:C0238300 Narrowing of the tear duct Nasolacrimal duct stenosis human_phenotype HP:0007678 Lacrimal duct stenosis HP:0007678 Narrowing of a tear duct (lacrimal duct). https://orcid.org/0000-0002-0736-9199 Narrowing of the tear duct https://orcid.org/0000-0001-5208-3432 true HP:0007679 HP:0007894 human_phenotype HP:0007680 obsolete Depigmented fundus true HP:0007680 true HP:0007681 true HP:0007682 true HP:0007683 true HP:0007684 Incomplete peripheral vascular development. UMLS:C1851406 Peripheral avascular retina human_phenotype HP:0007685 Avascular peripheral retina HP:0007685 Incomplete peripheral vascular development. PMID:36847634 A functional abnormality of the pupil. SNOMEDCT_US:72124005 UMLS:C0917967 human_phenotype HP:0007686 It is preferable to describe the functional defect precisely. Abnormal pupillary function HP:0007686 A functional abnormality of the pupil. https://orcid.org/0000-0002-0736-9199 A unilateral form of ptosis. UMLS:C1866806 Dropping of one upper eyelid human_phenotype HP:0007687 Unilateral ptosis HP:0007687 A unilateral form of ptosis. https://orcid.org/0000-0002-0736-9199 Dropping of one upper eyelid https://orcid.org/0000-0001-5208-3432 Absence of the combined rod-and-cone response on electroretinogram. HP:0003230 HP:0008280 UMLS:C4021570 Absent cone and rod functions by electroretinogram Absent rod-and cone-mediated responses on ERG human_phenotype HP:0007688 Undetectable light- and dark-adapted electroretinogram HP:0007688 Absence of the combined rod-and-cone response on electroretinogram. https://orcid.org/0000-0002-0736-9199 true HP:0007689 SNOMEDCT_US:32935005 UMLS:C0271285 human_phenotype HP:0007690 Map-dot-fingerprint corneal dystrophy HP:0007690 HP:0007665 HP:0010764 human_phenotype HP:0007691 obsolete Short curly eyelashes true HP:0007691 HP:0000519 human_phenotype HP:0007692 obsolete Nonnuclear polymorphic congenital cataract true HP:0007692 true HP:0007693 true HP:0007694 An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. UMLS:C1970591 human_phenotype HP:0007695 Abnormal pupillary light reflex HP:0007695 An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. https://orcid.org/0000-0002-0736-9199 true HP:0007696 Underdevelopment of the lower eyelid. Small lower eyelid UMLS:C4024814 UMLS:C4280270 UMLS:C4280420 Decreased size of lower eyelid Underdevelopment of lower eyelid Short lower eyelid human_phenotype Hypotrophic lower eyelid HP:0007697 Hypoplasia of the lower eyelids HP:0007697 Underdevelopment of the lower eyelid. https://orcid.org/0000-0002-0736-9199 Small lower eyelid https://orcid.org/0000-0001-5889-4463 Decreased size of lower eyelid https://orcid.org/0000-0001-5889-4463 Underdevelopment of lower eyelid https://orcid.org/0000-0001-5889-4463 Short lower eyelid https://orcid.org/0000-0001-5889-4463 Hypotrophic lower eyelid https://orcid.org/0000-0001-5889-4463 HP:0007722 human_phenotype HP:0007698 obsolete Retinal pigment epithelial atrophy true HP:0007698 true HP:0007699 Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. HP:0007696 HP:0007699 HP:0008040 SNOMEDCT_US:65075004 UMLS:C0266525 Anterior chamber cleavage defect Anterior chamber cleavage disorder Anterior chamber malformation Anterior chamber mesodermal anomalies Anterior segment developmental abnormality Anterior segment dysgenesis Anterior segment mesencyhmal dysgenesis Anterior segment ocular dysgenesis human_phenotype HP:0007700 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. Ocular anterior segment dysgenesis HP:0007700 Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. HPO_CONTRIBUTOR:DDD_ncarter true HP:0007701 HP:0000580 human_phenotype HP:0007702 obsolete Pigmentary retinal deposits true HP:0007702 Any deviation from the normal pigmentation of the retina. HP:0007741 HP:0007743 HP:0008051 SNOMEDCT_US:421689001 UMLS:C1720508 UMLS:C1862475 Abnormality of RPE Abnormality of retinal pigment epithelium Abnormality of retinal pigmentation Retinal pigmentary anomaly human_phenotype Abnormality of the retinal pigment epithelium HP:0007703 This includes abnormalities of the pigmentation of the RPE and intraretinal pigment migration. An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the neuroretina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Abnormal retinal pigmentation HP:0007703 Sudden-onset episode of abnormal, involuntary eye movements. UMLS:C1847515 Abnormal eye movements, paroxysmal human_phenotype HP:0007704 Paroxysmal involuntary eye movements HP:0007704 Sudden-onset episode of abnormal, involuntary eye movements. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:111521006 UMLS:C0155118 human_phenotype HP:0007705 Corneal degeneration HP:0007705 true HP:0007706 Absence of the crystalline lens of the eye as a result of a developmental defect. UMLS:C1853230 Lens agenesis human_phenotype HP:0007707 Congenital aphakia HP:0007707 Absence of the crystalline lens of the eye as a result of a developmental defect. https://orcid.org/0000-0002-0736-9199 UMLS:C4024812 Absent inner eyelashes human_phenotype HP:0007708 Absent inner eyelashes HP:0007708 Absent inner eyelashes A type of genetically determined disease of the cornea with corneal lesions with a band-like shape. SNOMEDCT_US:35055000 UMLS:C0155120 human_phenotype HP:0007709 Band-shaped corneal dystrophy HP:0007709 UMLS:C4024811 human_phenotype HP:0007710 Peripheral vitreous opacities HP:0007710 true HP:0007711 HP:0001135 human_phenotype HP:0007712 obsolete Choroidal dystrophy true HP:0007712 HP:0010920 human_phenotype HP:0007713 obsolete Juvenile zonular cataracts true HP:0007713 true HP:0007714 UMLS:C1859436 human_phenotype HP:0007715 Weak extraocular muscles HP:0007715 A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). NCIT:C3224 UMLS:C0220633 Intraocular melanoma human_phenotype HP:0007716 WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. Uveal melanoma HP:0007716 A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). https://orcid.org/0000-0002-0736-9199 A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. UMLS:C4024810 human_phenotype HP:0007717 Chronic irritative conjunctivitis HP:0007717 A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. https://orcid.org/0000-0002-0736-9199 true HP:0007718 true HP:0007719 Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. SNOMEDCT_US:204145006 UMLS:C0344529 Cornea plana human_phenotype HP:0007720 Flat cornea HP:0007720 Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. https://orcid.org/0000-0002-0736-9199 Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. UMLS:C3277464 Saccular conjunctival aneurysms human_phenotype HP:0007721 Saccular conjunctival dilatations HP:0007721 Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva. https://orcid.org/0000-0002-0736-9199 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). HP:0007698 HP:0008017 UMLS:C1840457 human_phenotype HP:0007722 Retinal pigment epithelial atrophy HP:0007722 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE). https://orcid.org/0000-0002-0736-9199 true HP:0007723 true HP:0007724 true HP:0007725 true HP:0007726 Lack of transparency of the corneal epithelium. UMLS:C1849198 Superficial corneal opacities human_phenotype HP:0007727 Opacification of the corneal epithelium HP:0007727 Lack of transparency of the corneal epithelium. https://orcid.org/0000-0001-8727-6592 Abnormal (non-physiological) constriction of the pupil of congenital onset. SNOMEDCT_US:400962005 UMLS:C1303009 human_phenotype HP:0007728 Congenital miosis HP:0007728 Abnormal (non-physiological) constriction of the pupil of congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0007729 An abnormal reduction in the amount of pigmentation of the iris. SNOMEDCT_US:247032003 SNOMEDCT_US:70397008 UMLS:C0154920 Light eye color Light eye colour Reduced iris pigmentation human_phenotype HP:0007730 Iris hypopigmentation HP:0007730 An abnormal reduction in the amount of pigmentation of the iris. https://orcid.org/0000-0002-0736-9199 Light eye color https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Light eye colour Abnormal development of the choroid and retina. UMLS:C4024809 human_phenotype HP:0007731 Chorioretinal dysplasia HP:0007731 Abnormal development of the choroid and retina. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the lacrimal gland. UMLS:C1863200 Hypoplastic lacrimal gland Underdeveloped tear gland human_phenotype HP:0007732 Lacrimal gland hypoplasia HP:0007732 Underdevelopment of the lacrimal gland. https://orcid.org/0000-0002-0736-9199 Underdeveloped tear gland https://orcid.org/0000-0001-5208-3432 UMLS:C1846266 human_phenotype HP:0007733 Laterally curved eyebrow HP:0007733 Abnormally big lacrimal glands. UMLS:C1867030 Enlarged tear gland human_phenotype HP:0007734 Enlarged lacrimal glands HP:0007734 Abnormally big lacrimal glands. https://orcid.org/0000-0002-0736-9199 Enlarged tear gland https://orcid.org/0000-0001-5208-3432 true HP:0007735 HP:0000556 human_phenotype HP:0007736 obsolete Pericentral retinal dystrophy true HP:0007736 Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). HP:0007644 HP:0007683 HP:0007823 UMLS:C1836926 Bone corpuscle fundus pigmentation Bone spicule pigmentation of the retina Fundus with peripheral bony spicules Retinal bone corpuscle pigmentation Retinal pigmented bone spicules human_phenotype Retinal 'bone corpuscle' pigmentation HP:0007737 Spicular pigmentation of the retina is typically associated with migration of microglia or retinal pigment epithelial cells into the neuroretina secondary to photoreceptor cell death; melanin from these cells causes the pigmentary changes. Spicular pigmentation of the retina HP:0007737 Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). https://orcid.org/0000-0002-0736-9199 Retinal 'bone corpuscle' pigmentation https://orcid.org/0000-0002-5316-1399 UMLS:C1854686 human_phenotype HP:0007738 Uncontrolled eye movements HP:0007738 HP:0007663 human_phenotype HP:0007739 obsolete Mildly reduced visual acuity true HP:0007739 UMLS:C1850640 Long eyelashes in irregular rows human_phenotype HP:0007740 Long eyelashes in irregular rows HP:0007740 Long eyelashes in irregular rows true HP:0007741 true HP:0007742 true HP:0007743 HP:0000612 human_phenotype HP:0007744 obsolete Iridoretinal coloboma true HP:0007744 true HP:0007745 true HP:0007746 UMLS:C4024807 human_phenotype HP:0007747 Monocular horizontal nystagmus HP:0007747 HP:0000612 human_phenotype HP:0007748 obsolete Irido-fundal coloboma true HP:0007748 true HP:0007749 Underdevelopment of the fovea centralis. UMLS:C2673946 UMLS:C4072863 Foveal hypoplasia human_phenotype HP:0007750 Hypoplasia of the fovea HP:0007750 Underdevelopment of the fovea centralis. https://orcid.org/0000-0002-0736-9199 true HP:0007751 true HP:0007752 true HP:0007753 Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. HP:0007638 HP:0007798 HP:0007914 HP:0007919 HP:0007999 UMLS:C0730292 human_phenotype HP:0007754 Macular dystrophy HP:0007754 Macular dystrophy is a nonspecific term for retinal degeneration, generally confined to the macula, usually presumed of genetic origin. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:1674008 UMLS:C0339277 human_phenotype HP:0007755 Juvenile epithelial corneal dystrophy HP:0007755 HP:0000594 human_phenotype HP:0007756 obsolete Slitlike anterior chamber angles in children true HP:0007756 HP:0000610 human_phenotype HP:0007757 obsolete Hypoplasia of choroid true HP:0007757 HP:0000505 human_phenotype HP:0007758 obsolete Congenital visual impairment true HP:0007758 Reduced transparency of the stroma of cornea. HP:0000515 HP:0007662 HP:0007896 HP:0007966 SNOMEDCT_US:246957002 UMLS:C0423250 UMLS:C1856661 Cloudy cornea Corneal stromal opacity human_phenotype Cloudy corneas HP:0007759 Opacification of the corneal stroma HP:0007759 Reduced transparency of the stroma of cornea. https://orcid.org/0000-0001-8727-6592 Cloudy corneas https://orcid.org/0000-0002-5316-1399 SNOMEDCT_US:39662004 SNOMEDCT_US:419395007 UMLS:C0271287 human_phenotype HP:0007760 Crystalline corneal dystrophy HP:0007760 A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. SNOMEDCT_US:404650002 UMLS:C1321308 human_phenotype HP:0007761 Pericentral scotoma HP:0007761 A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. https://orcid.org/0000-0002-0736-9199 true HP:0007762 Localized, irregular dilatation of small tortuous intraretinal blood vessels. SNOMEDCT_US:84884003 UMLS:C0154835 human_phenotype HP:0007763 Retinal telangiectasia HP:0007763 Localized, irregular dilatation of small tortuous intraretinal blood vessels. https://orcid.org/0000-0002-0736-9199 true HP:0007764 Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. SNOMEDCT_US:246991003 UMLS:C0423280 human_phenotype HP:0007765 Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. Deep anterior chamber HP:0007765 Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. HP:0007794 HP:0007890 SNOMEDCT_US:373650004 UMLS:C1298695 Hypoplastic optic discs human_phenotype HP:0007766 Optic disc hypoplasia HP:0007766 Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. https://orcid.org/0000-0002-0736-9199 Hypoplastic optic discs true HP:0007767 The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). HP:0008015 UMLS:C4021569 Tortuosity of main retinal vessels human_phenotype HP:0007768 Central retinal vessel vascular tortuosity HP:0007768 The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). https://orcid.org/0000-0002-0736-9199 Progressive loss of peripheral retinal pigment epithelium (RPE) and/or neurosensory retinal cells. HP:0007782 HP:0007805 SNOMEDCT_US:405721006 SNOMEDCT_US:61536007 UMLS:C1320640 human_phenotype HP:0007769 Peripheral retinal degeneration HP:0007769 HP:0007973 human_phenotype HP:0007770 obsolete Hypoplasia of the retina true HP:0007770 true HP:0007771 An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. HP:0008029 UMLS:C1837458 UMLS:C1848530 Abnormality of visual tracking Impairment of visual pursuit human_phenotype Abnormal visual pursuit HP:0007772 Impaired smooth pursuit HP:0007772 An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. https://orcid.org/0000-0002-0736-9199 Abnormality of visual tracking https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Impairment of visual pursuit https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. HP:0000655 UMLS:C1850109 Vitreoretinal abnormality Vitreoretinal degeneration human_phenotype HP:0007773 Vitreoretinopathy HP:0007773 Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. PMID:18179896 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Underdevelopment of the ciliary body. UMLS:C1836890 human_phenotype HP:0007774 Hypoplasia of the ciliary body HP:0007774 Underdevelopment of the ciliary body. https://orcid.org/0000-0002-0736-9199 true HP:0007775 HP:0007785 UMLS:C1835148 Hypotrichosis of lower eyelashes Partial absence of lower eyelashes Scanty lower eyelashes Sparse lower eyelashes Thin lower eyelashes human_phenotype HP:0007776 Sparse lower eyelashes HP:0007776 Hypotrichosis of lower eyelashes https://orcid.org/0000-0001-5889-4463 Scanty lower eyelashes Sparse lower eyelashes Thin lower eyelashes https://orcid.org/0000-0001-5889-4463 Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye. SNOMEDCT_US:53854005 UMLS:C0008512 human_phenotype HP:0007777 Chorioretinal scar HP:0007777 A type of retinal neovascularization that affects the posterior pole of the retina. UMLS:C4024803 Neovascularization of peripheral and posterior retina Posterior retinal neovascularisation human_phenotype HP:0007778 Posterior retinal neovascularization HP:0007778 A type of retinal neovascularization that affects the posterior pole of the retina. https://orcid.org/0000-0002-0736-9199 UMLS:C1853234 human_phenotype HP:0007779 Anterior segment of eye aplasia HP:0007779 A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. UMLS:C4021568 Cataracts, cortical pulverulent human_phenotype HP:0007780 Cortical pulverulent cataract HP:0007780 A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. https://orcid.org/0000-0002-0736-9199 true HP:0007781 HP:0007769 human_phenotype HP:0007782 obsolete Peripheral retinal cone degeneration true HP:0007782 HP:0000556 human_phenotype HP:0007783 obsolete Butterfly retinal pigment epithelial dystrophy true HP:0007783 true HP:0007784 true HP:0007785 HP:0007858 human_phenotype HP:0007786 obsolete Lacunar retinal depigmentation true HP:0007786 A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. HP:0007666 HP:0007857 SNOMEDCT_US:315353005 UMLS:C0858617 Posterior subcapsular opacities of the lens human_phenotype Posterior subcapsular cataracts HP:0007787 Posterior subcapsular cataract HP:0007787 A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. https://orcid.org/0000-0002-0736-9199 Posterior subcapsular cataracts https://orcid.org/0000-0002-5316-1399 true HP:0007788 true HP:0007789 true HP:0007790 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) that occurs in small, isolated areas. UMLS:C4024800 human_phenotype HP:0007791 Patchy atrophy of the retinal pigment epithelium HP:0007791 UMLS:C1843892 human_phenotype HP:0007792 Microsaccadic pursuit HP:0007792 Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula. UMLS:C4024799 Macular retinal pigment epithelial mottling human_phenotype HP:0007793 Granular macular appearance HP:0007793 Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula. https://orcid.org/0000-0002-0736-9199 true HP:0007794 A cataract that affects the anterior part of the cortex of the lens. UMLS:C1857308 human_phenotype HP:0007795 Anterior cortical cataract HP:0007795 A cataract that affects the anterior part of the cortex of the lens. https://orcid.org/0000-0002-0736-9199 true HP:0007796 A group of development abnormalities of retinal blood vessels. UMLS:C1861791 Retinal vascular malformation human_phenotype HP:0007797 Developmental retinal vascular malformation HP:0007797 HP:0000493 human_phenotype HP:0007798 obsolete Foveal dystrophy true HP:0007798 The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. UMLS:C1968901 human_phenotype HP:0007799 Conjunctival whitish salt-like deposits HP:0007799 The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. https://orcid.org/0000-0002-0736-9199 Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. UMLS:C1835117 Globe elongated Increased axial globe length Increased front to back length of eyeball human_phenotype HP:0007800 Increased axial length of the globe HP:0007800 Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. HPO_CONTRIBUTOR:DDD_ncarter Increased front to back length of eyeball https://orcid.org/0000-0001-5889-4463 HP:0007703 human_phenotype HP:0007801 obsolete Fishnet retinal pigmentation true HP:0007801 The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. SNOMEDCT_US:45283008 UMLS:C0018179 human_phenotype HP:0007802 Granular corneal dystrophy HP:0007802 The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. https://orcid.org/0000-0002-0736-9199 Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. HP:0007954 SNOMEDCT_US:56852002 UMLS:C0152200 UMLS:C1857618 Complete achromatopsia human_phenotype Total colorblindness HP:0007803 Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of gray. Monochromacy HP:0007803 Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. https://orcid.org/0000-0001-8727-6592 Total colorblindness https://orcid.org/0000-0002-5316-1399 true HP:0007804 true HP:0007805 true HP:0007806 HP:0008495 SNOMEDCT_US:72983001 UMLS:C0271344 human_phenotype HP:0007807 Optic nerve compression HP:0007807 HP:0000480 human_phenotype HP:0007808 obsolete Bilateral retinal coloboma true HP:0007808 UMLS:C4024796 human_phenotype HP:0007809 Punctate corneal dystrophy HP:0007809 HP:0000533 human_phenotype HP:0007810 obsolete Progressive bifocal chorioretinal atrophy true HP:0007810 Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. HP:0200069 UMLS:C1866180 human_phenotype HP:0007811 Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. Horizontal pendular nystagmus HP:0007811 Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. https://orcid.org/0000-0002-0736-9199 The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. UMLS:C4020911 Dendritic corneal epithelial ulcer Herpetiform corneal ulcers human_phenotype HP:0007812 Herpetiform corneal ulceration HP:0007812 The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. https://orcid.org/0000-0002-0736-9199 A form of uveitis that is not associated with the formation of granulomas. UMLS:C4024795 human_phenotype HP:0007813 Nongranulomatous uveitis HP:0007813 A form of uveitis that is not associated with the formation of granulomas. https://orcid.org/0000-0002-0736-9199 Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. HP:0001124 UMLS:C1857644 Focal hypopigmentation of the retinal pigment epithelium RPE irregularity RPE mottling Retinal pigment epithelium irregularity Salt and pepper retinal pigmentation Salt and pepper retinopathy human_phenotype HP:0007814 Retinal pigment epithelial mottling HP:0007814 Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium. https://orcid.org/0000-0002-0736-9199 RPE irregularity RPE mottling HP:0008046 human_phenotype HP:0007815 Abnormal distribution of retinal arterioles and venules true HP:0007815 true HP:0007816 A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. UMLS:C4024794 human_phenotype HP:0007817 Horizontal supranuclear gaze palsy HP:0007817 A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. https://orcid.org/0000-0002-0736-9199 The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. UMLS:C4021567 Ring iris heterochromia human_phenotype HP:0007818 Central heterochromia HP:0007818 The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. https://orcid.org/0000-0002-0736-9199 Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. HP:0007848 SNOMEDCT_US:441622000 UMLS:C0154971 Presenile cataract human_phenotype HP:0007819 Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. Presenile cataracts HP:0007819 Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. PMID:17030721 https://orcid.org/0000-0002-0736-9199 Congenital absence or closure of the opening of the lacrimal punctum. UMLS:C1863201 Atretic lacrimal puncta Atretic lacrimal punctum human_phenotype HP:0007820 Lacrimal punctal atresia HP:0007820 Congenital absence or closure of the opening of the lacrimal punctum. https://orcid.org/0000-0002-0736-9199 Atretic lacrimal puncta true HP:0007821 UMLS:C4024793 human_phenotype HP:0007822 Central retinal exudate HP:0007822 true HP:0007823 Paralysis of both the extrinsic and intrinsic ocular muscles. SNOMEDCT_US:78097002 UMLS:C0155338 Complete ophthalmoplegia Global paralysis of gaze Total internal and external ophthalmoplegia human_phenotype HP:0007824 Total ophthalmoplegia HP:0007824 Paralysis of both the extrinsic and intrinsic ocular muscles. https://orcid.org/0000-0002-0736-9199 HP:0000518 human_phenotype HP:0007825 obsolete Cataracts develop in second or third decade true HP:0007825 true HP:0007826 UMLS:C4024792 human_phenotype HP:0007827 Nodular corneal dystrophy HP:0007827 true HP:0007828 HP:0000546 human_phenotype HP:0007829 obsolete Diffuse retinal cone degeneration true HP:0007829 Inability to see well at night or in poor light with onset in adulthood. UMLS:C4024790 Adult-onset night blindness human_phenotype HP:0007830 Adult-onset night blindness HP:0007830 Inability to see well at night or in poor light with onset in adulthood. https://orcid.org/0000-0002-0736-9199 Adult-onset night blindness Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. HP:0007682 UMLS:C4024789 human_phenotype HP:0007831 Nonprogressive restrictive external ophthalmoplegia HP:0007831 Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. https://orcid.org/0000-0002-0736-9199 Pigmentation of the outer white part of the eyeball UMLS:C1859882 human_phenotype HP:0007832 Pigmentation of the sclera HP:0007832 Pigmentation of the outer white part of the eyeball https://orcid.org/0000-0001-5208-3432 UMLS:C4024788 human_phenotype HP:0007833 Anterior chamber synechiae HP:0007833 A kind of cataract that progresses with age. HP:0007828 UMLS:C4021566 Cataract, progressive human_phenotype HP:0007834 Progressive cataract HP:0007834 A kind of cataract that progresses with age. https://orcid.org/0000-0002-0736-9199 UMLS:C4024787 S-shaped eyes S-shaped opening between the eyelids human_phenotype HP:0007835 S-shaped palpebral fissures HP:0007835 S-shaped eyes https://orcid.org/0000-0001-5889-4463 S-shaped opening between the eyelids https://orcid.org/0000-0001-5889-4463 UMLS:C4024786 human_phenotype HP:0007836 Mosaic corneal dystrophy HP:0007836 true HP:0007837 A progressive form of ptosis. UMLS:C1834015 Progressive drooping of upper eyelid human_phenotype HP:0007838 Progressive ptosis HP:0007838 A progressive form of ptosis. https://orcid.org/0000-0002-0736-9199 Progressive drooping of upper eyelid https://orcid.org/0000-0001-5208-3432 true HP:0007839 Increased length of the upper eyelashes. UMLS:C4024785 Ciliary trichomegaly of upper eyelashes Increased length of upper eyelashes Long upper eyelashes human_phenotype HP:0007840 Long upper eyelashes HP:0007840 Increased length of the upper eyelashes. https://orcid.org/0000-0002-0736-9199 Increased length of upper eyelashes https://orcid.org/0000-0001-5889-4463 Long upper eyelashes Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. UMLS:C4024784 Amyloid deposition in the vitreous humour Vitreous amyloid deposits human_phenotype HP:0007841 Amyloid deposition in the vitreous humor HP:0007841 Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. https://orcid.org/0000-0002-0736-9199 Amyloid deposition in the vitreous humour true HP:0007842 Narrowing of the retinal blood vessels, both arterioles and venules. UMLS:C3278975 Narrowing of blood vessels in back of eye human_phenotype HP:0007843 Attenuation of retinal blood vessels is commonly seen in conditions with reduced photoreceptor cell metabolism and intact choroid, such as Retinitis Pigmentosa or vitamin A deficiency, or loss of inner retina, such as after central retinal artery occlusion. Narrowing may also be seen in accelerated hypertension and chronic hypertension. Attenuation of retinal blood vessels HP:0007843 Narrowing of the retinal blood vessels, both arterioles and venules. PMID:22661482 Narrowing of blood vessels in back of eye https://orcid.org/0000-0002-6548-5200 true HP:0007844 true HP:0007845 true HP:0007846 true HP:0007847 true HP:0007848 true HP:0007849 HP:0030666 human_phenotype HP:0007850 obsolete Retinal vascular proliferation true HP:0007850 HP:0001103 human_phenotype HP:0007851 obsolete Temporal displacement of maculae true HP:0007851 HP:0000580 human_phenotype HP:0007852 obsolete Pericentral pigmentary retinopathy true HP:0007852 true HP:0007853 SNOMEDCT_US:370961005 UMLS:C1299694 human_phenotype HP:0007854 Glaucomatous visual field defect HP:0007854 true HP:0007855 Punctate opacification (reduced transparency) of the corneal stroma. HP:0008004 UMLS:C4021565 Punctate corneal opacities human_phenotype HP:0007856 Punctate opacification of the cornea HP:0007856 Punctate opacification (reduced transparency) of the corneal stroma. https://orcid.org/0000-0001-8727-6592 true HP:0007857 Punched out lesions in the pigmented layer of the retina. HP:0007786 UMLS:C1844751 UMLS:C4072866 human_phenotype Lacunar retinal depigmentation HP:0007858 A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. Chorioretinal lacunae HP:0007858 Punched out lesions in the pigmented layer of the retina. https://orcid.org/0000-0002-0736-9199 Horizontal nystagmus dating from or present at birth. UMLS:C1866180 Nystagmus, congenital horizontal human_phenotype HP:0007859 Congenital horizontal nystagmus HP:0007859 Horizontal nystagmus dating from or present at birth. https://orcid.org/0000-0002-0736-9199 true HP:0007860 true HP:0007861 Deposition of calcium salts in the retina. UMLS:C1867289 human_phenotype HP:0007862 Retinal calcium deposits can be observed in pseudoxanthoma elasticum, retinoblastoma, calcified druse,n and phthisical eyes. Retinal calcification HP:0007862 Deposition of calcium salts in the retina. https://orcid.org/0000-0002-0736-9199 true HP:0007863 true HP:0007864 true HP:0007865 UMLS:C0281967 human_phenotype HP:0007866 Retinal infarction HP:0007866 Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. UMLS:C4024781 human_phenotype HP:0007867 Restrictive partial external ophthalmoplegia HP:0007867 Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. https://orcid.org/0000-0002-0736-9199 HP:0000608 human_phenotype HP:0007868 obsolete Age-related macular degeneration true HP:0007868 HP:0000580 human_phenotype HP:0007869 obsolete Peripheral retinopathy true HP:0007869 true HP:0007870 true HP:0007871 Benign choroidal tumour, seen in the fundus as a reddish or orange choroidal lesion and usually associated with cystoid edema, and less commonly with Subretinal fluid. NCIT:C3086 SNOMEDCT_US:255022003 UMLS:C0346390 human_phenotype HP:0007872 Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic, and only diagnosed after angiography. Diffuse choroidal hemangioma is seen associated with Sturge-Weber syndrome. Choroidal hemangioma HP:0007872 Benign choroidal tumour, seen in the fundus as a reddish or orange choroidal lesion and usually associated with cystoid edema, and less commonly with Subretinal fluid. PMID:15763200 https://orcid.org/0000-0002-0736-9199 HP:0007940 UMLS:C1862376 Prominent Schwalbe lines human_phenotype HP:0007873 Abnormally prominent line of Schwalbe HP:0007873 A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. UMLS:C4024780 Almond shaped eyes Almond-shaped opening between the eyelids human_phenotype HP:0007874 The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. Almond-shaped palpebral fissure HP:0007874 A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. PMID:19125427 Almond shaped eyes https://orcid.org/0000-0001-5889-4463 Almond-shaped opening between the eyelids https://orcid.org/0000-0001-5889-4463 Blindness with onset at birth. HP:0007706 SNOMEDCT_US:95486002 UMLS:C0005754 Blindness present at birth Congenital amaurosis human_phenotype HP:0007875 Congenital blindness HP:0007875 Blindness with onset at birth. https://orcid.org/0000-0002-0736-9199 Blindness present at birth https://orcid.org/0000-0001-5208-3432 HP:0100019 human_phenotype HP:0007876 obsolete Juvenile cortical cataract true HP:0007876 true HP:0007877 true HP:0007878 Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. SNOMEDCT_US:231854006 SNOMEDCT_US:473460002 UMLS:C0009766 human_phenotype HP:0007879 Allergic conjunctivitis HP:0007879 Allergic Conjunctivitis is an allergic inflammation of the conjunctiva. https://orcid.org/0000-0002-0736-9199 UMLS:C4024779 human_phenotype HP:0007880 Marginal corneal dystrophy HP:0007880 UMLS:C4024778 human_phenotype HP:0007881 Central corneal dystrophy HP:0007881 true HP:0007882 true HP:0007883 true HP:0007884 An abnormally slow velocity of horizontal saccadic eye movements. UMLS:C1856477 human_phenotype HP:0007885 Saccades are rapid eye movements that align the fovea with the target. Slowed horizontal saccades HP:0007885 An abnormally slow velocity of horizontal saccadic eye movements. https://orcid.org/0000-0002-0736-9199 Congenital absence of the extraocular muscles. UMLS:C1408781 UMLS:C4024777 Missing eye muscles human_phenotype Absent ocular muscles HP:0007886 Absent extraocular muscles HP:0007886 Congenital absence of the extraocular muscles. https://orcid.org/0000-0002-0736-9199 Missing eye muscles https://orcid.org/0000-0001-6908-9849 true HP:0007887 true HP:0007888 A type of posterior subcapsular cataract characterized by an iridescent color. UMLS:C1864573 Cataracts, posterior, subcapsular, iridescent human_phenotype HP:0007889 Iridescent posterior subcapsular cataract HP:0007889 A type of posterior subcapsular cataract characterized by an iridescent color. PMID:7826272 https://orcid.org/0000-0002-0736-9199 true HP:0007890 true HP:0007891 Underdevelopment of the lacrimal puncta. UMLS:C4021564 Hypoplasia of the lacrimal puncta Hypoplastic lacrimal puncta human_phenotype HP:0007892 Hypoplasia of the lacrimal punctum HP:0007892 Underdevelopment of the lacrimal puncta. https://orcid.org/0000-0002-0736-9199 Hypoplasia of the lacrimal puncta Hypoplastic lacrimal puncta HP:0000546 human_phenotype HP:0007893 obsolete Progressive retinal degeneration true HP:0007893 Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. HP:0001111 HP:0001487 HP:0007680 HP:0007746 HP:0007752 Decreased fundus pigmentation Depigmented fundus Hypopigmentation of the fundus human_phenotype HP:0007894 Fundus hypopigmentation is consistently observed in albinism. Pigmentation is also reduced with age in some individuals, high myopia, and in chronic inflammation, such as Harada disease. Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. Fundus hypopigmentation HP:0007894 Generalized or focal reduced pigmentation of the fundus, evaluated in the context of skin and hair color. Fundoscopy may reveal a low level pigment. https://orcid.org/0000-0003-0986-4123 true HP:0007895 true HP:0007896 true HP:0007897 HP:0012231 human_phenotype HP:0007898 obsolete Exudative retinopathy true HP:0007898 Retinal nonattachment is a developmental (congenital) condition in which persistent fetal blood vessels appear to proliferate more dramatically during infancy, causing complete perinatal detachment of the retina. This may occur during or shortly after neurogenesis, since the pathology is apparent at birth, and it may have a tractional basis, involving fibrovascular strands between the retina, posterior lens and hyaloid vessels. HP:0007849 UMLS:C4021563 Congenital retinal non-attachment human_phenotype Congenital retinal detachment HP:0007899 Retinal nonattachment HP:0007899 Retinal nonattachment is a developmental (congenital) condition in which persistent fetal blood vessels appear to proliferate more dramatically during infancy, causing complete perinatal detachment of the retina. This may occur during or shortly after neurogenesis, since the pathology is apparent at birth, and it may have a tractional basis, involving fibrovascular strands between the retina, posterior lens and hyaloid vessels. PMID:21441919 https://orcid.org/0000-0002-0736-9199 UMLS:C1968574 Underdeveloped tear duct human_phenotype HP:0007900 Hypoplastic lacrimal duct HP:0007900 Underdeveloped tear duct https://orcid.org/0000-0001-5208-3432 HP:0000479 human_phenotype HP:0007901 obsolete Retinal malformation true HP:0007901 Bleeding within the vitreous compartment of the eye. SNOMEDCT_US:31341008 UMLS:C0042909 Vitreous haemorrhage human_phenotype HP:0007902 The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others. Vitreous hemorrhage HP:0007902 Bleeding within the vitreous compartment of the eye. PMID:16882398 https://orcid.org/0000-0003-2945-4463 Vitreous haemorrhage Chorioretinal atrophy along the retinal veins. UMLS:C4072868 human_phenotype HP:0007903 Paravenous chorioretinal atrophy HP:0007903 Chorioretinal atrophy along the retinal veins. PMID:15623792 https://orcid.org/0000-0002-0736-9199 true HP:0007904 UMLS:C3275963 Abnormality of iris blood vessels human_phenotype HP:0007905 Abnormal iris vasculature HP:0007905 Abnormality of iris blood vessels https://orcid.org/0000-0001-5208-3432 Intraocular pressure that is 2 standard deviations above the population mean. SNOMEDCT_US:112222000 UMLS:C0234708 Elevated IOP Elevated intraocular pressure High eye pressure Increased IOP Increased intraocular pressure Raised IOP Raised intraocular pressure human_phenotype HP:0007906 Ocular hypertension HP:0007906 Elevated IOP High eye pressure Increased IOP Raised IOP true HP:0007907 true HP:0007908 true HP:0007909 HP:0000556 human_phenotype HP:0007910 obsolete Nonprogressive congenital retinal dystrophy true HP:0007910 HP:0007719 HP:0007955 UMLS:C1836264 Congenital drooping of both upper eyelids Ptosis, bilateral congenital Ptosis, congenital bilateral human_phenotype HP:0007911 Congenital bilateral ptosis HP:0007911 Congenital drooping of both upper eyelids https://orcid.org/0000-0001-5208-3432 true HP:0007912 A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. UMLS:C4024776 human_phenotype HP:0007913 Reticular retinal dystrophy HP:0007913 true HP:0007914 This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. SNOMEDCT_US:29504002 UMLS:C0339284 human_phenotype HP:0007915 Polymorphous posterior corneal dystrophy HP:0007915 This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. https://orcid.org/0000-0002-0736-9199 HP:0007795 human_phenotype HP:0007916 obsolete Small anterior lens surface opacities true HP:0007916 A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect. UMLS:C1866178 human_phenotype HP:0007917 Tractional retinal detachment can be seen in the context of diseases that induce a fibrovascular response, e.g. diabetes or conditions associated with abnormal vitreoretinal adhesions. This can be in the posterior pole and the retinal periphery Tractional retinal detachment HP:0007917 A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes, in the absence of a full-thickness retinal defect. ISBN-13:978-0199679980 https://orcid.org/0000-0002-0736-9199 true HP:0007918 true HP:0007919 HP:0001135 human_phenotype HP:0007920 obsolete Congenital chorioretinal dystrophy true HP:0007920 true HP:0007921 Myelinated retinal nerve fiber (MRNF) layer is a rare and mostly benign congenital anomaly in which the retinal nerve fibers anterior to the lamina cribrosa have a myelin sheath. HP:0007654 UMLS:C1849151 Hypermyelinated retinal nerve fibres MRNF Retinal striation human_phenotype HP:0007922 Hypermyelinated retinal nerve fibers HP:0007922 Myelinated retinal nerve fiber (MRNF) layer is a rare and mostly benign congenital anomaly in which the retinal nerve fibers anterior to the lamina cribrosa have a myelin sheath. PMID:34017666 Hypermyelinated retinal nerve fibres MRNF HP:0000493 human_phenotype HP:0007923 obsolete Foveal hyperplasia true HP:0007923 HP:0007652 UMLS:C1853141 UMLS:C3278981 Slow decrease in sharpness of vision Subacute deterioration of visual acuity human_phenotype Decreased visual acuity, slowly progressive HP:0007924 Slow decrease in visual acuity HP:0007924 Slow decrease in sharpness of vision https://orcid.org/0000-0001-5208-3432 Decreased visual acuity, slowly progressive https://orcid.org/0000-0002-5316-1399 A congenital defect resulting in absence of the lacrimal duct. UMLS:C4024773 Absent tear duct human_phenotype HP:0007925 Lacrimal duct aplasia HP:0007925 A congenital defect resulting in absence of the lacrimal duct. https://orcid.org/0000-0002-0736-9199 Absent tear duct https://orcid.org/0000-0001-5208-3432 true HP:0007926 true HP:0007927 Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. UMLS:C4024772 human_phenotype HP:0007928 Abnormal flash visual evoked potentials HP:0007928 Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. https://orcid.org/0000-0002-0736-9199 Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina. UMLS:C4024771 human_phenotype HP:0007929 Peripheral retinal detachment HP:0007929 HP:0000286 human_phenotype HP:0007930 obsolete Prominent epicanthal folds true HP:0007930 true HP:0007931 Congenital abnormal dilation of the pupil on both sides. UMLS:C4024770 human_phenotype HP:0007932 Bilateral congenital mydriasis HP:0007932 Congenital abnormal dilation of the pupil on both sides. https://orcid.org/0000-0002-0736-9199 Regional increase in the width (height) of the lateral eyebrow. UMLS:C1837733 Lateral eyebrow flare Wide lateral eyebrow human_phenotype HP:0007933 Broad lateral eyebrow HP:0007933 Regional increase in the width (height) of the lateral eyebrow. https://orcid.org/0000-0002-0736-9199 Wide lateral eyebrow https://orcid.org/0000-0001-5889-4463 true HP:0007934 UMLS:C1863408 human_phenotype HP:0007935 Juvenile posterior subcapsular lenticular opacities HP:0007935 Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. HP:0007846 HP:0007959 HP:0008025 UMLS:C1865918 UMLS:C4020806 Restrictive ophthalmoplegia human_phenotype Restrictive external ophthalmoplegia, bilateral HP:0007936 Restrictive external ophthalmoplegia HP:0007936 Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. https://orcid.org/0000-0002-0736-9199 A pattern of peripheral netlike retinal pigmentation that forms a polygonal arrangement of hyperpigmented lines forming geometric patterns in the fundus. UMLS:C4024769 Fishnet retinal pigmentation Honeycomb retinal degeneration Reticular degeneration of the RPE human_phenotype HP:0007937 Reticular pigmentary degeneration HP:0007937 A pattern of peripheral netlike retinal pigmentation that forms a polygonal arrangement of hyperpigmented lines forming geometric patterns in the fundus. HPO_CONTRIBUTOR:fprobst PMID:28114409 true HP:0007938 A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. SNOMEDCT_US:24704003 UMLS:C0339537 Blue cone monochromatism Incomplete achromatopsia S-cone monochromacy human_phenotype HP:0007939 Blue cone monochromacy HP:0007939 A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. https://orcid.org/0000-0002-0736-9199 true HP:0007940 Limited mobility of the eye within its socket. UMLS:C1858427 Limited extraocular movement human_phenotype HP:0007941 Limited extraocular movements HP:0007941 Paralysis of the iris and ciliary apparatus. SNOMEDCT_US:232146005 UMLS:C0339693 human_phenotype HP:0007942 Paralysis of the internal ocular muscles, the iris and ciliary apparatus. Internal ophthalmoplegia HP:0007942 Paralysis of the iris and ciliary apparatus. https://orcid.org/0000-0002-0736-9199 A form of stapes ankylosis with congenital onset. UMLS:C1866657 human_phenotype HP:0007943 Congenital stapes ankylosis HP:0007943 A form of stapes ankylosis with congenital onset. https://orcid.org/0000-0002-0736-9199 UMLS:C4024768 human_phenotype HP:0007944 Intermittent microsaccadic pursuits HP:0007944 HP:0000533 human_phenotype HP:0007945 obsolete Choroidal degeneration true HP:0007945 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. UMLS:C1866805 UMLS:C4280419 Narrow palpebral fissure, unilateral human_phenotype Unequal size of opening between the eyelids HP:0007946 Unilateral narrow palpebral fissure HP:0007946 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. https://orcid.org/0000-0002-0736-9199 Unequal size of opening between the eyelids https://orcid.org/0000-0001-5889-4463 A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. UMLS:C1849398 human_phenotype HP:0007947 Pericentral retinitis pigmentosa HP:0007947 A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery. PMID:28981474 https://orcid.org/0000-0003-0986-4123 A type of posterior cortical cataract characterized by dense lenticular opacities. UMLS:C4024767 human_phenotype HP:0007948 Dense posterior cortical cataract HP:0007948 A type of posterior cortical cataract characterized by dense lenticular opacities. https://orcid.org/0000-0002-0736-9199 HP:0200056 human_phenotype HP:0007949 obsolete Progressive macular scarring true HP:0007949 Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). UMLS:C4024765 human_phenotype HP:0007950 Peripapillary chorioretinal atrophy HP:0007950 Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). https://orcid.org/0000-0002-0736-9199 true HP:0007951 true HP:0007952 true HP:0007953 true HP:0007954 true HP:0007955 HP:0000567 human_phenotype HP:0007956 obsolete Bilateral choroid coloboma true HP:0007956 A reduction of corneal clarity. HP:0007844 HP:0007883 HP:0008502 SNOMEDCT_US:413921009 SNOMEDCT_US:64634000 SNOMEDCT_US:95735008 UMLS:C0010038 UMLS:C0521719 Corneal clouding Corneal opacities Reduction of corneal clarity Scarring or clouding of the cornea of the eye human_phenotype HP:0007957 Corneal opacity HP:0007957 A reduction of corneal clarity. https://orcid.org/0000-0002-0736-9199 UMLS:C4024763 human_phenotype HP:0007958 Optic atrophy from cranial nerve compression HP:0007958 true HP:0007959 true HP:0007960 HP:0000580 human_phenotype HP:0007961 obsolete Rarefaction of retinal pigmentation true HP:0007961 UMLS:C4021857 human_phenotype HP:0007962 Speckled corneal dystrophy HP:0007962 A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). UMLS:C4024762 human_phenotype HP:0007963 Pattern dystrophy of the retina HP:0007963 A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation). https://orcid.org/0000-0003-0986-4123 UMLS:C1843486 human_phenotype HP:0007964 Degenerative vitreoretinopathy HP:0007964 UMLS:C1850069 Absence of visual evoked potentials Non-detectable VEP Undetectable VEP human_phenotype HP:0007965 Undetectable visual evoked potentials HP:0007965 true HP:0007966 true HP:0007967 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. SNOMEDCT_US:314270008 SNOMEDCT_US:44647001 SNOMEDCT_US:69927002 UMLS:C0266568 Congenital retinal septum Persistent fetal vasculature Persistent foetal vasculature Persistent hyperplasia of primary vitreous Persistent hyperplastic primary vitreous Persistent hypertrophic primary vitreous Persistent posterior fetal fibrovascular sheath of the lens Persistent posterior foetal fibrovascular sheath of the lens Persistent tunica vasculosa lentis human_phenotype HP:0007968 Remnants of the hyaloid vascular system HP:0007968 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. https://orcid.org/0000-0002-0736-9199 Persistent fetal vasculature https://orcid.org/0000-0001-6908-9849 Persistent foetal vasculature Persistent posterior foetal fibrovascular sheath of the lens true HP:0007969 SNOMEDCT_US:268163008 SNOMEDCT_US:61989004 UMLS:C0266573 Congenital drooping upper eyelid human_phenotype HP:0007970 Congenital ptosis HP:0007970 Congenital drooping upper eyelid https://orcid.org/0000-0001-5208-3432 A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. SNOMEDCT_US:204128001 SNOMEDCT_US:21590003 UMLS:C0266537 human_phenotype HP:0007971 Lamellar cataract HP:0007971 A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. https://orcid.org/0000-0002-0736-9199 true HP:0007972 Abnormal growth and differentiation, structure and appearance of the retina present from birth. HP:0007770 HP:0008022 SNOMEDCT_US:95494009 UMLS:C0035313 Dysplasia/hypoplasia of the retina Retinal dysgenesis Retinal hypoplasia human_phenotype HP:0007973 This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. Retinal dysplasia HP:0007973 Abnormal growth and differentiation, structure and appearance of the retina present from birth. https://orcid.org/0000-0002-0736-9199 true HP:0007974 Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. UMLS:C1856478 human_phenotype HP:0007975 Hypometric horizontal saccades HP:0007975 Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. PMID:572501 https://orcid.org/0000-0002-0736-9199 Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. SNOMEDCT_US:204138006 UMLS:C0344523 Cataracts, congenital, cerulean human_phenotype HP:0007976 Cerulean cataract HP:0007976 Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. PMID:19496508 PMID:9158139 https://orcid.org/0000-0002-0736-9199 true HP:0007977 true HP:0007978 Horizontal nystagmus made apparent by looking to the right or to the left. HP:0007639 UMLS:C1853394 Nystagmus, horizontal, gaze-evoked human_phenotype Nystagmus, horizontal gaze-evoked HP:0007979 Gaze-evoked horizontal nystagmus HP:0007979 Horizontal nystagmus made apparent by looking to the right or to the left. https://orcid.org/0000-0002-0736-9199 Nystagmus, horizontal gaze-evoked https://orcid.org/0000-0002-5316-1399 Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent. UMLS:C1852548 human_phenotype HP:0007980 Absence of the retinal pigment epithelium occurs in a number of monogenic disorders, such as choroideremia, gyrate atrophy, and Bietti chorioretinal dystrophy. Absent retinal pigment epithelium HP:0007980 HP:0001133 human_phenotype HP:0007981 obsolete Concentric narrowing of visual field true HP:0007981 HP:0000556 human_phenotype HP:0007982 obsolete Central tapetoretinal dystrophy true HP:0007982 true HP:0007983 A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave. UMLS:C4021561 Electronegative ERG Electroretinogram: reduced b-wave amplitude Reduced ERG amplitude of b-wave Reduced amplitude of dark-adapted bright flash electroretinogram b-wave Reduced electroretinogram rod b-wave human_phenotype HP:0007984 Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. ERG: Reduced dark-adapted b-wave amplitude HP:0007984 A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave. PMID:34127841 https://orcid.org/0000-0002-0736-9199 Electronegative ERG Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures. UMLS:C4024761 Blocked retinal arteriole Blocked retinal artery human_phenotype HP:0007985 This can be due to embolic, inflammatory, or hyperviscosity disorders. This can be associated with Cotton wool spots. It is often referred to as Branch retinal artery occlusion. Retinal arteriolar occlusion HP:0007985 Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. This can affect the inner or mid-retinal structures. https://orcid.org/0000-0002-0736-9199 Blocked retinal artery https://orcid.org/0000-0001-5889-4463 UMLS:C1847882 human_phenotype HP:0007986 Increased retinal vascularity HP:0007986 UMLS:C4024760 human_phenotype HP:0007987 Progressive visual field defects HP:0007987 Decreased amount of pigmentation in the macula. UMLS:C4024759 Macular depigmentation human_phenotype HP:0007988 Macular hypopigmentation HP:0007988 Decreased amount of pigmentation in the macula. HPO_CONTRIBUTOR:DDD_ncarter Retinal exudate within the retinal tissue itself. UMLS:C4024758 human_phenotype HP:0007989 Intraretinal exudate HP:0007989 Retinal exudate within the retinal tissue itself. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the stroma of iris. HP:0007991 HP:0008027 UMLS:C1860344 Hypoplastic iris stoma Iris stromal hypoplasia Underdeveloped iris stroma human_phenotype HP:0007990 Hypoplastic iris stroma HP:0007990 Underdevelopment of the stroma of iris. https://orcid.org/0000-0002-0736-9199 Underdeveloped iris stroma https://orcid.org/0000-0001-6908-9849 true HP:0007991 A pattern of white lines and dots in the far periphery of the retina. SNOMEDCT_US:3577000 UMLS:C0154856 human_phenotype HP:0007992 Lattice retinal degeneration HP:0007992 A pattern of white lines and dots in the far periphery of the retina. PMID:37605766 Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. UMLS:C4024757 Malformed tear ducts human_phenotype HP:0007993 Malformed lacrimal duct HP:0007993 Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. https://orcid.org/0000-0002-0736-9199 Malformed tear ducts https://orcid.org/0000-0001-5208-3432 Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. SNOMEDCT_US:420990001 UMLS:C0241688 UMLS:C2937228 Kalnienk vision Loss of peripheral vision human_phenotype Tunnel vision HP:0007994 Peripheral visual field loss HP:0007994 Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. https://orcid.org/0000-0002-0736-9199 Kalnienk vision https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Loss of peripheral vision https://orcid.org/0000-0001-5208-3432 Tunnel vision true HP:0007995 true HP:0007996 true HP:0007997 true HP:0007998 true HP:0007999 An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. SNOMEDCT_US:103254005 UMLS:C0151572 Decreased blink reflex Reduced corneal reflex human_phenotype HP:0008000 Decreased corneal reflex HP:0008000 An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. https://orcid.org/0000-0002-0736-9199 Increased amount of pigmentation in the fovea. UMLS:C3809301 human_phenotype HP:0008001 Foveal hyperpigmentation HP:0008001 Increased amount of pigmentation in the fovea. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. UMLS:C1837087 UMLS:C4024756 Abnormality of macular pigmentation human_phenotype Macular pigmentary changes HP:0008002 Abnormal macular pigmentation HP:0008002 Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina. HPO_CONTRIBUTOR:DDD_ncarter HP:0007897 UMLS:C1853558 Jerky smooth pursuit human_phenotype HP:0008003 Jerky ocular pursuit movements HP:0008003 true HP:0008004 HP:0001131 human_phenotype HP:0008005 obsolete Congenital corneal dystrophy true HP:0008005 true HP:0008006 SNOMEDCT_US:415176004 UMLS:C1533041 human_phenotype HP:0008007 Primary congenital glaucoma HP:0008007 HP:0007663 human_phenotype HP:0008008 obsolete Progressive central visual loss true HP:0008008 UMLS:C1860785 Three rows of eyelashes Triple row of eyelashes human_phenotype HP:0008009 Three rows of eyelashes HP:0008009 Three rows of eyelashes Triple row of eyelashes https://orcid.org/0000-0001-5889-4463 true HP:0008010 Reduced transparency of the peripheral region of the cornea. SNOMEDCT_US:55713007 UMLS:C0155100 Peripheral corneal opacity human_phenotype HP:0008011 Peripheral opacification of the cornea HP:0008011 Reduced transparency of the peripheral region of the cornea. https://orcid.org/0000-0002-0736-9199 HP:0000545 human_phenotype HP:0008012 obsolete Congenital myopia true HP:0008012 true HP:0008013 HP:0032416 human_phenotype HP:0008014 obsolete Central fundal arteriolar microaneurysms true HP:0008014 true HP:0008015 true HP:0008016 HP:0007722 human_phenotype HP:0008017 obsolete Depigmented lesions of the retinal pigment epithelium true HP:0008017 true HP:0008018 Partial dislocation of the lens in a superior direction. UMLS:C2036843 Superior subluxated lens human_phenotype HP:0008019 Superior lens subluxation HP:0008019 Partial dislocation of the lens in a superior direction. PMID:5087595 https://orcid.org/0000-0002-0736-9199 Superior subluxated lens https://orcid.org/0000-0001-6908-9849 Inherited progressive cone degeneration. HP:0007789 UMLS:C0730290 UMLS:C3665342 Progressive cone degeneration Progressive cone dystrophy human_phenotype HP:0008020 Cone dystrophy HP:0008020 true HP:0008021 true HP:0008022 true HP:0008023 HP:0100018 human_phenotype HP:0008024 obsolete Congenital nuclear cataract true HP:0008024 true HP:0008025 UMLS:C4024754 human_phenotype HP:0008026 Horizontal opticokinetic nystagmus HP:0008026 true HP:0008027 A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. HP:0007673 SNOMEDCT_US:14046000 UMLS:C0154850 Cystic macular degeneration human_phenotype HP:0008028 Cystoid macular degeneration HP:0008028 A form of macular degeneration characterized by the presence of multiple cystoid spaces in the macula. https://orcid.org/0000-0002-0736-9199 true HP:0008029 SNOMEDCT_US:11255009 UMLS:C0271069 human_phenotype HP:0008030 Retinal arteritis HP:0008030 A type of sutural cataract in which the opacity follows the posterior Y suture. UMLS:C4021560 Posterior Y-sutural cataracts human_phenotype HP:0008031 Posterior Y-sutural cataract HP:0008031 A type of sutural cataract in which the opacity follows the posterior Y suture. https://orcid.org/0000-0002-0736-9199 true HP:0008032 HP:0000577 human_phenotype HP:0008033 obsolete Congenital exotropia true HP:0008033 Abnormal pigmentation of the iris. UMLS:C1834387 human_phenotype HP:0008034 Abnormal iris pigmentation HP:0008034 Abnormal pigmentation of the iris. https://orcid.org/0000-0002-0736-9199 HP:0000546 human_phenotype HP:0008035 obsolete Retinitis pigmentosa inversa true HP:0008035 HP:0000510 human_phenotype HP:0008036 obsolete Rod-cone dystrophy true HP:0008036 Absence of the anterior chamber of the eye owing to a developmental defect. SNOMEDCT_US:404675003 SNOMEDCT_US:55457007 UMLS:C0271004 human_phenotype HP:0008037 Absent anterior chamber of the eye HP:0008037 Absence or underdevelopment of the lacrimal gland. UMLS:C1835602 Absent/underdeveloped lacrimal glands Absent/underdeveloped tear glands human_phenotype HP:0008038 Aplastic/hypoplastic lacrimal glands HP:0008038 Absence or underdevelopment of the lacrimal gland. https://orcid.org/0000-0002-0736-9199 Absent/underdeveloped lacrimal glands https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped tear glands https://orcid.org/0000-0001-5208-3432 UMLS:C1857307 human_phenotype HP:0008039 Subepithelial corneal opacities HP:0008039 true HP:0008040 UMLS:C1856441 human_phenotype HP:0008041 Late onset congenital glaucoma HP:0008041 true HP:0008042 Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. HP:0007952 HP:0008510 UMLS:C2176208 Constricted retinal arterioles Narrow retinal arterioles Retinal arteriolar constriction Retinal arteriolar narrowing human_phenotype HP:0008043 Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. Focal retinal arteriolar constriction HP:0008043 Focal decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. https://orcid.org/0000-0002-0736-9199 true HP:0008044 UMLS:C4021558 High flash visual evoked potentials human_phenotype HP:0008045 Enlarged flash visual evoked potentials HP:0008045 A structural abnormality of retinal vasculature. 2008-04-02T12:09:00Z HP:0007815 UMLS:C4024753 Abnormality of retina blood vessels Abnormality of the retinal vasculature human_phenotype HP:0008046 Abnormal retinal vascular morphology HP:0008046 A structural abnormality of retinal vasculature. https://orcid.org/0000-0002-0736-9199 Abnormality of retina blood vessels https://orcid.org/0000-0001-5208-3432 2008-04-02T12:10:00Z UMLS:C4024752 Abnormality of eye blood vessels human_phenotype HP:0008047 Abnormality of the vasculature of the eye HP:0008047 Abnormality of eye blood vessels https://orcid.org/0000-0001-5208-3432 An abnormality of the line of Schwalbe. 2008-04-02T12:12:00Z UMLS:C4021856 Abnormality of the line of Schwalbe human_phenotype HP:0008048 Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. Abnormal line of Schwalbe morphology HP:0008048 An abnormality of the line of Schwalbe. https://orcid.org/0000-0002-0736-9199 An abnormality of an extraocular muscle. 2008-04-02T12:14:00Z UMLS:C4024751 human_phenotype HP:0008049 There are six extraocular muscles that control the movements of the eye. Abnormality of the extraocular muscles HP:0008049 An abnormality of an extraocular muscle. https://orcid.org/0000-0002-0736-9199 An anomaly of the space between the medial and lateral canthi of the two open eyelids. 2008-04-02T01:22:00Z UMLS:C4024750 Abnormality of the opening between the eyelids Abnormality of the palpebral fissures Deformity of the palpebral fissures Malformation of the palpebral fissures human_phenotype HP:0008050 Abnormality of the palpebral fissures HP:0008050 An anomaly of the space between the medial and lateral canthi of the two open eyelids. https://orcid.org/0000-0002-0736-9199 Abnormality of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 Abnormality of the palpebral fissures Deformity of the palpebral fissures https://orcid.org/0000-0001-5889-4463 Malformation of the palpebral fissures https://orcid.org/0000-0001-5889-4463 HP:0007703 human_phenotype HP:0008051 obsolete Abnormality of the retinal pigment epithelium true HP:0008051 A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. 2008-04-02T01:37:00Z SNOMEDCT_US:37480005 UMLS:C0229197 Retinal folds human_phenotype HP:0008052 Retinal fold HP:0008052 A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. https://orcid.org/0000-0002-0736-9199 Retinal folds https://orcid.org/0000-0002-5316-1399 Absence or underdevelopment of the iris. 2008-04-02T01:50:00Z UMLS:C4024748 Absent/small iris Absent/underdeveloped iris human_phenotype HP:0008053 Aplasia/Hypoplasia of the iris HP:0008053 Absence or underdevelopment of the iris. https://orcid.org/0000-0002-0736-9199 Absent/small iris https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped iris https://orcid.org/0000-0001-5208-3432 Any abnormality of the blood vessels of the conjunctiva. 2008-04-02T03:04:00Z UMLS:C4024747 Abnormal morphology of the conjunctiva vasculature Abnormal vasculature of the conjunctiva morphology Abnormality of the vasculature of the conjunctiva human_phenotype HP:0008054 Abnormal morphology of the conjunctival vasculature HP:0008054 Any abnormality of the blood vessels of the conjunctiva. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. 2008-04-02T03:24:00Z UMLS:C4024746 Absent/underdeveloped uvea human_phenotype HP:0008055 Aplasia/Hypoplasia affecting the uvea HP:0008055 Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. https://orcid.org/0000-0002-0736-9199 Absent/underdeveloped uvea https://orcid.org/0000-0001-5208-3432 2008-04-02T03:25:00Z UMLS:C4024745 Absent/small eye Absent/underdeveloped eye human_phenotype HP:0008056 Aplasia/Hypoplasia affecting the eye HP:0008056 Absent/small eye https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped eye https://orcid.org/0000-0001-5208-3432 A developmental defect characterized by lack of development or underdevelopment of the fundus/fovea. 2008-04-02T03:27:00Z UMLS:C4024744 Absent/small fundus human_phenotype HP:0008057 Aplasia/Hypoplasia affecting the fundus HP:0008057 Absent/small fundus https://en.wikipedia.org/wiki/febrile_seizure https://orcid.org/0000-0001-5208-3432 2008-04-02T03:28:00Z UMLS:C4024743 Absent/small optic nerve Absent/underdeveloped optic nerve human_phenotype HP:0008058 Aplasia/Hypoplasia of the optic nerve HP:0008058 Absent/small optic nerve https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped optic nerve https://orcid.org/0000-0001-5208-3432 2008-04-02T03:29:00Z UMLS:C4024742 Absent/underdeveloped macula human_phenotype HP:0008059 Aplasia/Hypoplasia of the macula HP:0008059 Absent/underdeveloped macula https://orcid.org/0000-0001-5208-3432 Congenital absence or underdevelopment of the fovea. 2008-04-02T03:30:00Z UMLS:C4024741 Absent/underdeveloped fovea human_phenotype HP:0008060 Aplasia/Hypoplasia of the fovea HP:0008060 Congenital absence or underdevelopment of the fovea. https://orcid.org/0000-0002-0736-9199 Absent/underdeveloped fovea https://orcid.org/0000-0001-5208-3432 2008-04-02T03:30:00Z UMLS:C4024740 Absent/small retina Absent/underdeveloped retina human_phenotype HP:0008061 Aplasia/Hypoplasia of the retina HP:0008061 Absent/small retina https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped retina https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the anterior segment of the eye. 2008-04-02T03:33:00Z UMLS:C4024739 human_phenotype HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye HP:0008062 Absence or underdevelopment of the anterior segment of the eye. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the lens. 2008-04-02T03:33:00Z UMLS:C4024738 Absent/small lens Absent/underdeveloped lens human_phenotype HP:0008063 Aplasia/Hypoplasia of the lens HP:0008063 Absence or underdevelopment of the lens. https://orcid.org/0000-0002-0736-9199 Absent/small lens https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped lens https://orcid.org/0000-0001-5208-3432 An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. 2008-04-02T03:41:00Z HP:0000955 HP:0007547 MEDDRA:10021198 UMLS:C0020757 Ichthyosiform abnormality of the skin Ichthyotic skin human_phenotype Hypertrophic ichthyosis HP:0008064 The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. Ichthyosis can have a congenital onset or be acuqired, e.g., paraneoplastic ichthyosis. Ichthyosis HP:0008064 An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. https://orcid.org/0000-0002-0736-9199 MEDDRA:10021198 Ichthyosis 2008-04-02T03:44:00Z UMLS:C4024737 Absent/small skin Absent/underdeveloped skin human_phenotype HP:0008065 Aplasia/Hypoplasia of the skin HP:0008065 Absent/small skin https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped skin https://orcid.org/0000-0001-5208-3432 The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. 2008-04-02T03:54:00Z HP:0007467 HP:0007496 HP:0200038 UMLS:C0241054 UMLS:C2132198 UMLS:C2220104 Abnormal blistering of the skin Blister Blistering, generalised Blistering, generalized Blisters Skin bullae human_phenotype Skin blisters HP:0008066 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. Abnormal blistering of the skin HP:0008066 The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. PMID:31596619 https://orcid.org/0000-0002-0736-9199 Abnormal blistering of the skin Blistering, generalised Blistering, generalized Blisters Skin blisters https://orcid.org/0000-0002-5316-1399 2008-04-02T03:56:00Z UMLS:C4024736 Abnormally loose or hyperelastic skin Abnormally loose or stretchable skin human_phenotype HP:0008067 Abnormally lax or hyperextensible skin HP:0008067 Abnormally loose or hyperelastic skin https://orcid.org/0000-0001-5208-3432 Abnormally loose or stretchable skin https://orcid.org/0000-0001-5208-3432 true HP:0008068 A tumor (abnormal growth of tissue) of the skin. 2008-04-02T04:01:00Z Skin cancer (non-melanoma) NCIT:C3262 SNOMEDCT_US:126488004 SNOMEDCT_US:372130007 UMLS:C0007114 UMLS:C0037286 Dermatological tumors Dermatological tumours Skin tumors Skin tumours Tumor of the skin Tumour of the skin human_phenotype Neoplasia of the skin Skin cancer HP:0008069 Neoplasm of the skin HP:0008069 A tumor (abnormal growth of tissue) of the skin. https://orcid.org/0000-0002-0736-9199 Skin cancer (non-melanoma) Dermatological tumors https://orcid.org/0009-0006-4530-3154 Dermatological tumours Skin tumors Skin tumours Tumor of the skin Tumour of the skin Skin cancer https://orcid.org/0000-0002-5316-1399 Reduced density of hairs. 2008-04-02T04:11:00Z HP:0001006 HP:0002237 HP:0002291 HP:0002551 HP:0004522 HP:0004525 HP:0004538 HP:0004874 MEDDRA:10021126 SNOMEDCT_US:53602002 SNOMEDCT_US:56558005 UMLS:C0020678 UMLS:C1837770 UMLS:C1860844 Decreased hair growth Decreased hair growth on body Hypotrichosis Marked hypotrichosis Sparse hair Sparse hair since birth human_phenotype Thin, sparse hair HP:0008070 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. Sparse hair HP:0008070 Reduced density of hairs. PMID:14676077 https://orcid.org/0000-0002-0736-9199 Sparse hair Thin, sparse hair https://orcid.org/0000-0002-5316-1399 Increased blood pressure during a pregnancy. SNOMEDCT_US:288250001 UMLS:C0565599 human_phenotype HP:0008071 Maternal hypertension HP:0008071 Increased blood pressure during a pregnancy. https://orcid.org/0009-0006-4530-3154 Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. UMLS:C4024735 human_phenotype HP:0008072 Maternal virilization in pregnancy HP:0008072 Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. https://orcid.org/0000-0002-0736-9199 An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age. UMLS:C4024734 Low maternal serum estriol human_phenotype HP:0008073 Low maternal circulating estriol concentration HP:0008073 An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age. PMID:19038077 Low maternal serum estriol UMLS:C1834349 human_phenotype HP:0008074 Metatarsal periosteal thickening HP:0008074 HP:0001761 human_phenotype HP:0008075 obsolete Progressive pes cavus true HP:0008075 Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. UMLS:C1836872 human_phenotype HP:0008076 Osteoporotic tarsals HP:0008076 Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. https://orcid.org/0000-0002-0736-9199 true HP:0008077 UMLS:C1850162 human_phenotype HP:0008078 Thin metatarsal cortices HP:0008078 A developmental abnormality characterized by the absence of the fifth metatarsal bone. HP:0010670 UMLS:C1867932 Absent 5th long bone of foot Absent 5th metatarsals Aplasia of the fifth metatarsal bone human_phenotype HP:0008079 Absent fifth metatarsal HP:0008079 A developmental abnormality characterized by the absence of the fifth metatarsal bone. https://orcid.org/0000-0002-0736-9199 Absent 5th long bone of foot https://orcid.org/0000-0001-5208-3432 Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. SNOMEDCT_US:274147008 UMLS:C0546297 Hitchhiker hallux Hyperabducted big toe Medially deviated halluces human_phenotype HP:0008080 Hallux varus HP:0008080 Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. https://orcid.org/0000-0002-0736-9199 An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted. SNOMEDCT_US:249803006 SNOMEDCT_US:275344002 UMLS:C1578482 Valgus foot deformity Everted heel Heel valgus Valgus deformity of the hindfoot human_phenotype HP:0008081 Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body. Pes valgus HP:0008081 UMLS:C2673401 human_phenotype HP:0008082 Medial deviation of the foot HP:0008082 UMLS:C1861376 Underdeveloped 2nd-5th middle toe bones human_phenotype HP:0008083 2nd-5th toe middle phalangeal hypoplasia HP:0008083 Underdeveloped 2nd-5th middle toe bones https://orcid.org/0000-0001-5208-3432 true HP:0008084 true HP:0008085 true HP:0008086 The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. UMLS:C1844712 human_phenotype HP:0008087 Nonossified fifth metatarsal HP:0008087 The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. https://orcid.org/0000-0002-0736-9199 true HP:0008088 An anomaly of the fifth metatarsal bone. UMLS:C4024733 Abnormality of the 5th long bone of foot human_phenotype HP:0008089 Abnormality of the fifth metatarsal bone HP:0008089 An anomaly of the fifth metatarsal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 5th long bone of foot https://orcid.org/0000-0001-5208-3432 UMLS:C4024732 human_phenotype HP:0008090 Ankylosis of feet small joints HP:0008090 true HP:0008091 true HP:0008092 Underdevelopment (hypoplasia) of the fourth toe. UMLS:C1862083 Short 4th toe Short fourth toe human_phenotype HP:0008093 Short 4th toe HP:0008093 Underdevelopment (hypoplasia) of the fourth toe. https://orcid.org/0000-0002-0736-9199 Short 4th toe Short fourth toe An overall widening of the spaces between the digits. HP:0008077 UMLS:C1969238 Widely spaced toes human_phenotype HP:0008094 This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). Widely spaced toes HP:0008094 An overall widening of the spaces between the digits. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Widely spaced toes Osteolysis affecting the talus. UMLS:C4021556 Osteolysis of tali human_phenotype HP:0008095 Osteolysis of talus HP:0008095 Osteolysis affecting the talus. https://orcid.org/0009-0006-4530-3154 Medial deviation of the second toe. UMLS:C1862147 human_phenotype HP:0008096 Medially deviated second toe HP:0008096 Medial deviation of the second toe. https://orcid.org/0000-0002-0736-9199 UMLS:C1844520 human_phenotype HP:0008097 Partial fusion of tarsals HP:0008097 true HP:0008098 true HP:0008099 true HP:0008100 true HP:0008101 UMLS:C1969289 human_phenotype HP:0008102 Expanded metatarsals with widened medullary cavities HP:0008102 Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008145 UMLS:C1846853 UMLS:C4280418 Tarsal delayed ossification human_phenotype Delayed ankle bone maturation HP:0008103 Delayed tarsal ossification HP:0008103 Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. https://orcid.org/0000-0002-0736-9199 Delayed ankle bone maturation https://orcid.org/0000-0001-5208-3432 true HP:0008104 true HP:0008105 true HP:0008106 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. UMLS:C1867132 human_phenotype HP:0008107 Plantar crease between first and second toes HP:0008107 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. https://orcid.org/0000-0002-0736-9199 Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008137 UMLS:C1849293 UMLS:C4280417 Precociously ossified tarsal bones human_phenotype Accelerated ankle bone maturation HP:0008108 Advanced tarsal ossification HP:0008108 Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. https://orcid.org/0000-0002-0736-9199 Accelerated ankle bone maturation https://orcid.org/0000-0001-5208-3432 true HP:0008109 SNOMEDCT_US:249808002 SNOMEDCT_US:397932003 UMLS:C0009081 human_phenotype HP:0008110 Equinovarus deformity HP:0008110 UMLS:C1863403 Broad distal big toe human_phenotype HP:0008111 Broad distal hallux HP:0008111 Broad distal big toe https://orcid.org/0000-0001-5208-3432 A type of contracture in which the plantar flexion muscles are contracted. UMLS:C1861239 Plantar flexion contractures human_phenotype HP:0008112 Plantar flexion is the movement of the top of the foot away from the leg in a downward motion. With plantar flexion contracture, the abiliuty to passively or actively move the tip of the toe back closer to the leg is limited. Plantar flexion contracture HP:0008112 Plantar flexion contractures UMLS:C1861873 human_phenotype HP:0008113 Multiple plantar creases HP:0008113 Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. UMLS:C1840420 human_phenotype HP:0008114 Metatarsal diaphyseal endosteal sclerosis HP:0008114 Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. https://orcid.org/0000-0002-0736-9199 Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). Curvature of 3rd toe UMLS:C4021555 UMLS:C4280416 3rd toe clinodactyly human_phenotype HP:0008115 Clinodactyly of the 3rd toe HP:0008115 Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). https://orcid.org/0000-0002-0736-9199 Curvature of 3rd toe https://orcid.org/0000-0001-5208-3432 Limitation of the ability to bend the toes. UMLS:C4024731 human_phenotype HP:0008116 Flexion limitation of toes HP:0008116 Limitation of the ability to bend the toes. https://orcid.org/0000-0002-0736-9199 UMLS:C1843985 human_phenotype HP:0008117 Shortening of the talar neck HP:0008117 true HP:0008118 UMLS:C1856746 Deformed ankle bones human_phenotype HP:0008119 Deformed tarsal bones HP:0008119 Deformed ankle bones https://orcid.org/0000-0001-5208-3432 true HP:0008120 true HP:0008121 Synostosis of the calcaneus with the navicular bone. UMLS:C4024730 human_phenotype HP:0008122 Calcaneonavicular fusion HP:0008122 Synostosis of the calcaneus with the navicular bone. https://orcid.org/0000-0002-0736-9199 true HP:0008123 A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. SNOMEDCT_US:30449003 UMLS:C0265646 human_phenotype HP:0008124 Talipes calcaneovarus HP:0008124 A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. https://orcid.org/0000-0002-0736-9199 UMLS:C1859224 human_phenotype HP:0008125 Second metatarsal posteriorly placed HP:0008125 true HP:0008126 A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. HP:0008104 HP:0008130 HP:0008146 UMLS:C1835574 Delayed coalescence of bipartite calcanei Delayed coalescence of calcaneal ossification centers Delayed coalescence of calcaneal ossification centres Delayed fusion of bipartite calcanei Double calcaneal ossification center Double calcaneal ossification centre Extra calcaneal ossification center Extra calcaneal ossification centre human_phenotype HP:0008127 Bipartite calcaneus HP:0008127 A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. https://orcid.org/0000-0002-0736-9199 Delayed coalescence of calcaneal ossification centres Double calcaneal ossification centre Extra calcaneal ossification centre true HP:0008128 true HP:0008129 true HP:0008130 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. UMLS:C1844848 Punctate calcifications of tarsals Punctate tarsal calcification human_phenotype HP:0008131 Tarsal stippling HP:0008131 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. https://orcid.org/0000-0002-0736-9199 Hindfoot valgus (posterior part of the foot turns outward) in combination with forefoot abduction (front part of the foot (the forefoot) is angled outwards away from the midline of the body, relative to the hindfoot) and lowering of the midfoot. UMLS:C3805726 human_phenotype HP:0008132 In the context of Marfan syndrome, this anomaly is sometimes referred to as hindfoot deformity, but in general, the term hindfoot deformity is also used to describe other findings. Medial rotation of the medial malleolus HP:0008132 Hindfoot valgus (posterior part of the foot turns outward) in combination with forefoot abduction (front part of the foot (the forefoot) is angled outwards away from the midline of the body, relative to the hindfoot) and lowering of the midfoot. PMID:34825999 UMLS:C4024729 human_phenotype HP:0008133 Distal tapering of metatarsals HP:0008133 Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. HP:0008140 UMLS:C4021554 UMLS:C4280415 Irregular tarsal centers Irregular tarsal centres human_phenotype Irregular ankle bone maturation HP:0008134 Irregular tarsal ossification HP:0008134 Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. https://orcid.org/0000-0002-0736-9199 Irregular tarsal centres Irregular ankle bone maturation https://orcid.org/0000-0001-5208-3432 true HP:0008135 true HP:0008136 true HP:0008137 Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. UMLS:C1860449 Equinus deformity of the calcaneus Hindfoot equinus human_phenotype HP:0008138 Equinus calcaneus HP:0008138 Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. https://orcid.org/0000-0002-0736-9199 true HP:0008139 true HP:0008140 SNOMEDCT_US:263030002 UMLS:C0434717 Dislocation of toes human_phenotype HP:0008141 Dislocation of toes HP:0008141 Dislocation of toes Delayed maturation and calcification of the calcaneus. UMLS:C4024728 UMLS:C4280414 human_phenotype Delayed heel bone maturation HP:0008142 Delayed calcaneal ossification HP:0008142 Delayed maturation and calcification of the calcaneus. https://orcid.org/0000-0002-0736-9199 Delayed heel bone maturation https://orcid.org/0000-0001-5208-3432 true HP:0008143 UMLS:C1843986 human_phenotype HP:0008144 Flattening of the talar dome HP:0008144 true HP:0008145 true HP:0008146 true HP:0008147 Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. UMLS:C4024727 human_phenotype HP:0008148 Impaired epinephrine-induced platelet aggregation HP:0008148 Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. https://orcid.org/0000-0002-7744-1790 true HP:0008149 Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. UMLS:C1864179 human_phenotype HP:0008150 Elevated serum transaminases during infections HP:0008150 Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. https://orcid.org/0000-0002-0736-9199 Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. HP:0012201 SNOMEDCT_US:409674002 UMLS:C0151872 Increased INR Increased international normalised ratio Increased international normalized ratio Low factor II activity Prolonged PT Reduced factor II activity Reduced prothrombin activity human_phenotype HP:0008151 The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR. Prolonged prothrombin time HP:0008151 Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. PMID:26351955 PMID:29939529 https://orcid.org/0000-0002-0736-9199 Increased INR Increased international normalised ratio Prolonged PT true HP:0008152 Episodes of muscle weakness associated with reduced levels of potassium in the blood. UMLS:C4021553 Hypokalemic periodic paresis human_phenotype HP:0008153 Periodic hypokalemic paresis HP:0008153 Episodes of muscle weakness associated with reduced levels of potassium in the blood. https://orcid.org/0000-0002-0736-9199 true HP:0008154 Excessive amounts of mucopolysaccharide in the urine. HP:0003567 UMLS:C4024726 human_phenotype HP:0008155 This finding is suggestive of the diagnosis of a mucopolysaccharidosis. Mucopolysacchariduria HP:0008155 Excessive amounts of mucopolysaccharide in the urine. https://orcid.org/0000-0002-0736-9199 true HP:0008156 true HP:0008157 Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. SNOMEDCT_US:238040008 SNOMEDCT_US:299465007 UMLS:C0020474 human_phenotype HP:0008158 Hyperapobetalipoproteinemia HP:0008158 Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. PMID:6579550 https://orcid.org/0000-0002-0736-9199 true HP:0008159 The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. UMLS:C4024725 human_phenotype HP:0008160 3-hydroxydicarboxylic aciduria HP:0008160 The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0001-5208-3432 Alkaline phosphatase levels measured within leukocytes is below detectable levels. UMLS:C4024724 Absent leukocyte ALP human_phenotype HP:0008161 Absent leukocyte alkaline phosphatase HP:0008161 Alkaline phosphatase levels measured within leukocytes is below detectable levels. https://orcid.org/0000-0002-0736-9199 Absent leukocyte ALP An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. UMLS:C4021552 Hyperammonemia, asymptomatic human_phenotype HP:0008162 Asymptomatic hyperammonemia HP:0008162 An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. https://orcid.org/0000-0002-0736-9199 Abnormally reduced concentration of cortisol in the blood. HP:0000874 HP:0003291 HP:0004317 HP:0008220 UMLS:C1833054 UMLS:C1836623 UMLS:C1846225 Decreased cortisol production Glucocorticoid insufficiency Hypocortisolemia Low blood cortisol level Low to undetectable plasma cortisol Plasma cortisol low human_phenotype Hypocortisolism HP:0008163 Decreased circulating cortisol level HP:0008163 Abnormally reduced concentration of cortisol in the blood. https://orcid.org/0000-0002-0736-9199 Low blood cortisol level https://orcid.org/0000-0002-6548-5200 true HP:0008164 HP:0032218 human_phenotype HP:0008165 obsolete Decreased helper T cell proportion true HP:0008165 Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. HP:0003644 HP:0008300 SNOMEDCT_US:238025006 UMLS:C0085131 UMLS:C1854788 UMLS:C1856559 Beta-galactosidase deficiency in fibroblasts and white blood cells Beta-galactosidase-1 deficiency Decreased beta galactosidase activity human_phenotype HP:0008166 Decreased beta-galactosidase activity HP:0008166 Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. HPO_CONTRIBUTOR:gcarletti UMLS:C3279397 human_phenotype HP:0008167 Very long chain fatty acid accumulation HP:0008167 true HP:0008168 Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. SNOMEDCT_US:37193007 UMLS:C0015503 UMLS:C4024722 human_phenotype Factor VII deficiency HP:0008169 Reduced factor VII activity HP:0008169 Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. https://orcid.org/0000-0002-0736-9199 true HP:0008170 true HP:0008171 true HP:0008172 true HP:0008173 true HP:0008174 true HP:0008175 SNOMEDCT_US:281611002 UMLS:C0559506 human_phenotype HP:0008176 Neonatal unconjugated hyperbilirubinemia HP:0008176 true HP:0008177 UMLS:C4024721 human_phenotype HP:0008178 Abnormal cartilage matrix HP:0008178 An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. UMLS:C4024720 Decreased Arden ratio of EOG human_phenotype HP:0008179 Decreased Arden ratio of electrooculogram HP:0008179 An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. https://orcid.org/0000-0002-0736-9199 Decreased Arden ratio of EOG HP:0003211 UMLS:C1850309 Mildly elevated CPK Mildly elevated creatine phosphokinase Mildly elevated serum CK Mildly elevated serum CPK Mildly elevated serum phospho-CK Mildly increased creatine kinase Mildly increased serum creatine kinase Moderately elevated serum CK Moderately elevated serum CPK Moderately increased serum creatine kinase human_phenotype HP:0008180 'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal)) Mildly elevated creatine kinase HP:0008180 Mildly elevated CPK Mildly elevated creatine phosphokinase https://orcid.org/0000-0001-7941-2961 Mildly elevated serum CK https://orcid.org/0000-0001-7941-2961 Mildly elevated serum CPK https://orcid.org/0000-0001-7941-2961 Mildly elevated serum phospho-CK https://orcid.org/0000-0001-7941-2961 Mildly increased serum creatine kinase https://orcid.org/0000-0001-7941-2961 Moderately elevated serum CK https://orcid.org/0000-0001-7941-2961 Moderately elevated serum CPK https://orcid.org/0000-0001-7941-2961 An absence of low-density lipoprotein cholesterol in the blood. SNOMEDCT_US:190787008 UMLS:C0000744 human_phenotype HP:0008181 Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. Abetalipoproteinemia HP:0008181 An absence of low-density lipoprotein cholesterol in the blood. https://orcid.org/0000-0002-0736-9199 UMLS:C4024719 Small adrenal cortex human_phenotype HP:0008182 Adrenocortical hypoplasia HP:0008182 Small adrenal cortex https://orcid.org/0000-0001-5208-3432 true HP:0008183 true HP:0008184 The onset of puberty before the age of 9 years in boys. UMLS:C1859979 Early onset of puberty in males Male precocious puberty human_phenotype HP:0008185 Precocious puberty in males HP:0008185 The onset of puberty before the age of 9 years in boys. https://orcid.org/0000-0002-0736-9199 Early onset of puberty in males https://orcid.org/0000-0001-5208-3432 The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. UMLS:C1851720 human_phenotype HP:0008186 This feature is common in Beckwith Wiedemann syndrome. Adrenocortical cytomegaly HP:0008186 The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. https://orcid.org/0000-0002-0736-9199 No secondary sexual characteristics are present at puberty. HP:0008674 UMLS:C4021551 No secondary sexual characteristics at puberty human_phenotype HP:0008187 Absence of secondary sex characteristics HP:0008187 No secondary sexual characteristics are present at puberty. https://orcid.org/0000-0002-0736-9199 Thyroid dysgenesis is a descriptive term that should be avoided if more precise information is available. However, the HPO keeps retains this term because it is commonly used in the medical literature. In humans, the process of thyroid morphogenesis occurs from the 3rd to 16th week of gestation. Alterations occurring during this period may result in a thyroid gland that is absent (thyroid agenesis or athyreosis), hypoplastic (thyroid hypoplasia), or located in an unusual position (thyroid ectopy). All these entities are grouped under the term thyroid dysgenesis. UMLS:C1563716 Thyroid dysplasia human_phenotype HP:0008188 Thyroid dysgenesis HP:0008188 Thyroid dysgenesis is a descriptive term that should be avoided if more precise information is available. However, the HPO keeps retains this term because it is commonly used in the medical literature. In humans, the process of thyroid morphogenesis occurs from the 3rd to 16th week of gestation. Alterations occurring during this period may result in a thyroid gland that is absent (thyroid agenesis or athyreosis), hypoplastic (thyroid hypoplasia), or located in an unusual position (thyroid ectopy). All these entities are grouped under the term thyroid dysgenesis. PMID:23698639 Decreased sensitivity toward insulin. UMLS:C1864570 human_phenotype HP:0008189 Insulin insensitivity HP:0008189 Decreased sensitivity toward insulin. https://orcid.org/0000-0002-0736-9199 true HP:0008190 The congenital absence of the thyroid gland. UMLS:C0749420 UMLS:C4020805 human_phenotype Athyroidal hypothyroidism HP:0008191 Thyroid agenesis HP:0008191 The congenital absence of the thyroid gland. PMID:2918525 https://orcid.org/0000-0002-0736-9199 true HP:0008192 UMLS:C1859014 human_phenotype HP:0008193 Primary gonadal insufficiency HP:0008193 The presence of multiple pancreatic islet cell adenomas. UMLS:C4024718 human_phenotype HP:0008194 Multiple pancreatic beta-cell adenomas HP:0008194 The presence of multiple pancreatic islet cell adenomas. https://orcid.org/0000-0002-0736-9199 true HP:0008195 true HP:0008196 UMLS:C1846228 human_phenotype HP:0008197 Absence of pubertal development HP:0008197 Deficiency of parathyroid hormone with congenital onset. HP:0008199 HP:0008201 UMLS:C1455734 Neonatal hypoparathyroidism human_phenotype HP:0008198 Congenital hypoparathyroidism HP:0008198 Deficiency of parathyroid hormone with congenital onset. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 true HP:0008199 A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. HP:0008254 SNOMEDCT_US:36348003 UMLS:C0221002 human_phenotype HP:0008200 Primary hyperparathyroidism HP:0008200 A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. https://orcid.org/0000-0002-0736-9199 true HP:0008201 A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. SNOMEDCT_US:67873006 UMLS:C0271586 Prolactin deficiency human_phenotype HP:0008202 Reduced circulating prolactin concentration HP:0008202 A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. PMID:23378139 https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 true HP:0008203 UMLS:C1868007 Precocious puberty with Sertoli cell tumour human_phenotype HP:0008204 Precocious puberty with Sertoli cell tumor HP:0008204 Precocious puberty with Sertoli cell tumour Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. UMLS:C1842404 human_phenotype HP:0008205 Insulin-dependent but ketosis-resistant diabetes HP:0008205 Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. https://orcid.org/0000-0002-0736-9199 true HP:0008206 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. HP:0000862 HP:0008219 HP:0008252 SNOMEDCT_US:363732003 SNOMEDCT_US:373662000 SNOMEDCT_US:386584007 UMLS:C0001403 UMLS:C0405580 Adrenocortical insufficiency Primary adrenocortical failure human_phenotype Addison disease Addison's disease HP:0008207 Deficiency of both glucocorticoids and mineralocorticoids. Primary adrenal insufficiency HP:0008207 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. https://orcid.org/0000-0002-0736-9199 Hyperplasia of the parathyroid gland. SNOMEDCT_US:9092004 UMLS:C0271844 Enlarged parathyroid glands human_phenotype HP:0008208 An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. Parathyroid hyperplasia HP:0008208 Hyperplasia of the parathyroid gland. https://orcid.org/0000-0002-0736-9199 Enlarged parathyroid glands https://orcid.org/0000-0001-5208-3432 Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. HP:0001587 HP:0100805 SNOMEDCT_US:373717006 UMLS:C0025322 UMLS:C0085215 Climacterium praecox Early menopause Hypergonadotropic amenorrhea Menopause praecox Premature menopause Premature ovarian failure Primary ovarian insufficiency human_phenotype HP:0008209 The causes of primary ovarian insufficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years). Premature ovarian insufficiency HP:0008209 Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. https://orcid.org/0000-0002-0736-9199 Early menopause https://orcid.org/0000-0001-5208-3432 Premature menopause Premature ovarian failure true HP:0008210 Aplasia of the parathyroid gland. SNOMEDCT_US:73291005 UMLS:C1321907 Parathyroid absence Parathyroid aplasia human_phenotype HP:0008211 Parathyroid agenesis HP:0008211 Aplasia of the parathyroid gland. https://orcid.org/0000-0002-0736-9199 true HP:0008212 A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). HP:0008192 SNOMEDCT_US:33927004 UMLS:C0271623 Pituitary gonadotropin deficiency human_phenotype HP:0008213 Gonadotropin deficiency HP:0008213 A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). https://orcid.org/0000-0002-0538-4547 A reduction below normal concentration of estradiol in the circulation. SNOMEDCT_US:166449002 UMLS:C0241011 Decreased serum estradiol human_phenotype HP:0008214 Decreased serum estradiol HP:0008214 Decreased serum estradiol true HP:0008215 Abnormal development of the adrenal gland. UMLS:C1856017 Adrenal gland dysplasia Dysplastic adrenal glands human_phenotype HP:0008216 Adrenal gland dysgenesis HP:0008216 Abnormal development of the adrenal gland. https://orcid.org/0000-0002-0538-4547 true HP:0008217 true HP:0008218 true HP:0008219 true HP:0008220 Enlargement of the adrenal gland. SNOMEDCT_US:419920004 UMLS:C1621895 Enlarged adrenal glands human_phenotype HP:0008221 Adrenal hyperplasia HP:0008221 Enlargement of the adrenal gland. https://orcid.org/0000-0002-0538-4547 Enlarged adrenal glands SNOMEDCT_US:6738008 UMLS:C0021361 Female infertility human_phenotype HP:0008222 Female infertility HP:0008222 Female infertility Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). SNOMEDCT_US:237523006 UMLS:C0342162 Mild hypothyroidism Subclinical hypothyroidism human_phenotype HP:0008223 Compensated hypothyroidism HP:0008223 Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). PMID:28406057 Subclinical hypothyroidism PMID:28406057 true HP:0008224 UMLS:C1969546 human_phenotype HP:0008225 Thyroid follicular hyperplasia HP:0008225 Insufficient amount of androgenic activity. SNOMEDCT_US:38825009 UMLS:C0342527 Hypoandrogenism human_phenotype HP:0008226 Androgen insufficiency HP:0008226 Insufficient amount of androgenic activity. https://orcid.org/0000-0002-0736-9199 A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. SNOMEDCT_US:360348000 SNOMEDCT_US:360353005 UMLS:C0342198 human_phenotype HP:0008227 Pituitary resistance to thyroid hormone HP:0008227 A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. https://orcid.org/0000-0002-0736-9199 true HP:0008228 The presence of lymphangiectasis of the thyroid gland. HP:0008235 UMLS:C1856129 Thyroid lymphangiectasis human_phenotype HP:0008229 A stretching and widening of the lymphatic vessels of the thyroid gland. Thyroid lymphangiectasia HP:0008229 The presence of lymphangiectasis of the thyroid gland. https://orcid.org/0000-0002-0736-9199 HP:0040171 human_phenotype HP:0008230 obsolete Decreased testosterone in males true HP:0008230 SNOMEDCT_US:237778003 UMLS:C0342495 human_phenotype HP:0008231 Macronodular adrenal hyperplasia HP:0008231 An elevated concentration of follicle-stimulating hormone in the blood. HP:0008324 UMLS:C4021550 Elevated FSH level Elevated follicle stimulating hormone Elevated follicle-stimulating hormone Elevated plasma follicle stimulating hormone Increased circulating follicle stimulating hormone level human_phenotype HP:0008232 Elevated circulating follicle stimulating hormone level HP:0008232 An elevated concentration of follicle-stimulating hormone in the blood. https://orcid.org/0000-0002-0736-9199 Elevated FSH level An reduced concentration of progesterone in the blood. UMLS:C1858995 Decreased serum progesterone human_phenotype HP:0008233 Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle. Decreased circulating progesterone HP:0008233 Decreased serum progesterone true HP:0008234 true HP:0008235 SNOMEDCT_US:4294006 UMLS:C0271528 human_phenotype HP:0008236 Isosexual precocious puberty HP:0008236 A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. SNOMEDCT_US:37429009 UMLS:C0220998 Tertiary hypothyroidism human_phenotype HP:0008237 The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. Hypothalamic hypothyroidism HP:0008237 A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. PMID:18731015 https://orcid.org/0000-0002-0736-9199 true HP:0008238 Developmental hypoplasia of the adrenal medulla. UMLS:C4024717 Small adrenal medulla human_phenotype HP:0008239 Adrenal medullary hypoplasia HP:0008239 Developmental hypoplasia of the adrenal medulla. https://orcid.org/0000-0002-0736-9199 Small adrenal medulla https://orcid.org/0000-0001-5208-3432 UMLS:C4024716 human_phenotype HP:0008240 Secondary growth hormone deficiency HP:0008240 true HP:0008241 A state of renal tubular unresponsiveness or resistance to the action of aldosterone. HP:0008228 SNOMEDCT_US:77098009 UMLS:C0033805 human_phenotype HP:0008242 Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. Pseudohypoaldosteronism HP:0008242 A state of renal tubular unresponsiveness or resistance to the action of aldosterone. https://orcid.org/0000-0002-0736-9199 true HP:0008243 A type of adrenal hypoplasia with congenital onset. HP:0008246 SNOMEDCT_US:93235007 UMLS:C0220766 Congenital adrenal gland hypoplasia human_phenotype HP:0008244 Congenital adrenal hypoplasia HP:0008244 A type of adrenal hypoplasia with congenital onset. https://orcid.org/0000-0002-0736-9199 A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. HP:0008248 SNOMEDCT_US:82598004 UMLS:C3665349 Low thyroid gland function due to abnormal pituitary gland Secondary hypothyroidism TSH deficient hypothyroidism Thyroid stimulating hormone deficiency Thyrotropin deficiency human_phenotype HP:0008245 Pituitary hypothyroidism HP:0008245 A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. https://orcid.org/0000-0002-0736-9199 Low thyroid gland function due to abnormal pituitary gland https://orcid.org/0000-0002-6548-5200 true HP:0008246 Increased levels of thyroxine without evidence of clinical thyroid disease. HP:0008212 UMLS:C4021549 Asymptomatic hyperthyroxinemia human_phenotype HP:0008247 Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. Euthyroid hyperthyroxinemia HP:0008247 Increased levels of thyroxine without evidence of clinical thyroid disease. eMedicine:118562 https://orcid.org/0000-0002-0736-9199 true HP:0008248 Hyperplasia of the thyroid gland. UMLS:C1112776 Large thyroid human_phenotype HP:0008249 Thyroid hyperplasia HP:0008249 Hyperplasia of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Large thyroid https://orcid.org/0000-0001-6908-9849 HP:0003072 human_phenotype HP:0008250 obsolete Infantile hypercalcemia true HP:0008250 An enlargement of the thyroid gland with congenital onset. SNOMEDCT_US:276565004 UMLS:C0349476 Congenital goitre human_phenotype HP:0008251 Congenital goiter HP:0008251 An enlargement of the thyroid gland with congenital onset. https://orcid.org/0000-0002-0736-9199 Congenital goitre true HP:0008252 true HP:0008253 true HP:0008254 SNOMEDCT_US:237603002 UMLS:C0342273 human_phenotype HP:0008255 Transient neonatal diabetes mellitus HP:0008255 Adrenocortical adenomas are benign tumors of the adrenal cortex. HP:0008196 SNOMEDCT_US:18365006 SNOMEDCT_US:255036008 SNOMEDCT_US:302826002 UMLS:C0206667 Adrenocortical adenomas human_phenotype HP:0008256 Adrenocortical adenoma HP:0008256 Adrenocortical adenomas are benign tumors of the adrenal cortex. PMID:17287480 https://orcid.org/0000-0002-0736-9199 true HP:0008257 A type of adrenal hyperplasia with congenital onset. SNOMEDCT_US:237751000 UMLS:C0001627 human_phenotype HP:0008258 Congenital adrenal hyperplasia HP:0008258 A type of adrenal hyperplasia with congenital onset. https://orcid.org/0000-0002-0736-9199 Adrenal insufficiency secondary to a defect in the ACTH receptor. UMLS:C4021548 ACTH receptor defect ACTHR defect Adrenocorticotropic hormone-resistant adrenal insufficiency human_phenotype HP:0008259 Adrenocorticotropin receptor defect HP:0008259 Adrenal insufficiency secondary to a defect in the ACTH receptor. https://orcid.org/0000-0002-0538-4547 true HP:0008260 The presence of an adenoma of the pancreas with origin in a pancreatic B cell. UMLS:C1851697 human_phenotype HP:0008261 Pancreatic islet cell adenoma HP:0008261 The presence of an adenoma of the pancreas with origin in a pancreatic B cell. https://orcid.org/0000-0002-0736-9199 true HP:0008262 UMLS:C1848800 human_phenotype HP:0008263 Thyroid defect in oxidation and organification of iodide HP:0008263 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. HP:0001932 UMLS:C4021547 human_phenotype HP:0008264 Neutrophil inclusion bodies HP:0008264 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. https://orcid.org/0000-0002-0736-9199 UMLS:C4024715 human_phenotype HP:0008265 Mitochondrial lysine transport defect HP:0008265 true HP:0008266 true HP:0008267 true HP:0008268 UMLS:C3806125 human_phenotype HP:0008269 Increased red cell hemolysis by shear stress HP:0008269 true HP:0008270 Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. UMLS:C4020803 UMLS:C4020804 UMLS:C4021847 human_phenotype Abnormal hyaline collagen Abnormal type II collagen HP:0008271 Abnormal cartilage collagen HP:0008271 Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. PMID:11879535 PMID:7757081 PMID:9468540 https://orcid.org/0000-0002-0736-9199 UMLS:C4024714 human_phenotype HP:0008272 Renal tubular lysine transport defect HP:0008272 UMLS:C4024713 human_phenotype HP:0008273 Transient aminoaciduria HP:0008273 true HP:0008274 UMLS:C4024712 Abnormal cone-mediated electroretinogram human_phenotype HP:0008275 Abnormal light-adapted electroretinogram HP:0008275 true HP:0008276 Any deviation from the normal concentration of zinc in the blood circulation. UMLS:C4020802 UMLS:C4024711 Abnormal blood zinc concentration Abnormal zinc(2+) level Abnormality of zinc homeostasis human_phenotype Abnormal zinc metabolism HP:0008277 Abnormal circulating zinc concentration HP:0008277 Atrophy (wasting) of the cerebellar cortex. UMLS:C4024710 Cerebellar cortex degeneration human_phenotype HP:0008278 Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. Cerebellar cortical atrophy HP:0008278 Atrophy (wasting) of the cerebellar cortex. https://orcid.org/0000-0002-0736-9199 Cerebellar cortex degeneration https://orcid.org/0000-0001-5208-3432 UMLS:C1850722 human_phenotype HP:0008279 Transient hyperlipidemia HP:0008279 true HP:0008280 An increased concentration of ammonia in the blood with sudden onset. UMLS:C1859506 Hyperammonemia, acute human_phenotype HP:0008281 Acute hyperammonemia HP:0008281 An increased concentration of ammonia in the blood with sudden onset. https://orcid.org/0000-0002-0736-9199 An increased amount of unconjugated (indirect) bilurubin in the blood. HP:0008289 SNOMEDCT_US:7752002 UMLS:C0268306 human_phenotype HP:0008282 Unconjugated hyperbilirubinemia HP:0008282 An increased amount of unconjugated (indirect) bilurubin in the blood. https://orcid.org/0000-0002-0736-9199 An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. UMLS:C1864954 High blood insulin levels while fasting human_phenotype HP:0008283 Fasting hyperinsulinemia HP:0008283 An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. https://orcid.org/0000-0002-0736-9199 High blood insulin levels while fasting https://orcid.org/0000-0001-5208-3432 true HP:0008284 UMLS:C4024709 human_phenotype HP:0008285 Transient hypophosphatemia HP:0008285 true HP:0008286 true HP:0008287 SNOMEDCT_US:237939006 UMLS:C0751748 human_phenotype HP:0008288 Nonketotic hyperglycinemia HP:0008288 true HP:0008289 A partial reduction in level of the complement component Factor H in circulation. UMLS:C4024708 human_phenotype HP:0008290 Partial complement factor H deficiency HP:0008290 A partial reduction in level of the complement component Factor H in circulation. https://emedicine.medscape.com/article/135478-overview A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). SNOMEDCT_US:21109002 SNOMEDCT_US:254958004 UMLS:C1306214 ACTH-producing pituitary adenoma Corticotropin-secreting pituitary adenoma human_phenotype HP:0008291 Pituitary corticotropic cell adenoma HP:0008291 A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 true HP:0008292 An increase in the level of long-chain dicarboxylic acid in the urine. UMLS:C1837273 human_phenotype HP:0008293 Long-chain dicarboxylic aciduria HP:0008293 An increase in the level of long-chain dicarboxylic acid in the urine. https://orcid.org/0000-0001-5208-3432 true HP:0008294 true HP:0008295 true HP:0008296 A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). SNOMEDCT_US:28575006 UMLS:C0268464 human_phenotype HP:0008297 Transient hyperphenylalaninemia HP:0008297 A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). https://orcid.org/0000-0002-0736-9199 true HP:0008298 true HP:0008299 true HP:0008300 An increased concentration of dermatan sulfate in the urine. UMLS:C1854774 Dermatan sulphate excretion in urine human_phenotype HP:0008301 Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. Dermatan sulfate excretion in urine HP:0008301 An increased concentration of dermatan sulfate in the urine. HPO_CONTRIBUTOR:gcarletti Dermatan sulphate excretion in urine true HP:0008302 Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. UMLS:C4024707 human_phenotype HP:0008303 Olivary degeneration HP:0008303 Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata. https://orcid.org/0000-0002-0736-9199 true HP:0008304 Presence of myoglobin in the urine following exercise. HP:0008319 UMLS:C1845155 UMLS:C1860069 human_phenotype Exercise-induced myoglobinuria in adults HP:0008305 Exercise-induced myoglobinuria HP:0008305 Presence of myoglobin in the urine following exercise. https://orcid.org/0000-0002-0736-9199 UMLS:C3151556 human_phenotype HP:0008306 Abnormal iron deposition in mitochondria HP:0008306 true HP:0008307 true HP:0008308 An increase in the level of medium chain dicarboxylic acid in the urine. UMLS:C1860081 human_phenotype HP:0008309 Medium chain dicarboxylic aciduria HP:0008309 An increase in the level of medium chain dicarboxylic acid in the urine. https://orcid.org/0000-0001-5208-3432 true HP:0008310 Lower than normal amount of myelin in the dorsal (posterior) tract of the spinal cord white matter. UMLS:C4024706 Spinal cord posterior columns myelin loss human_phenotype HP:0008311 Spinal cord dorsal column hypomyelination HP:0008311 Lower than normal amount of myelin in the dorsal (posterior) tract of the spinal cord white matter. PMID:17701896 true HP:0008312 true HP:0008313 A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. UMLS:C4020801 UMLS:C4024705 human_phenotype Respiratory complex II deficiency HP:0008314 Decreased activity of mitochondrial complex II HP:0008314 A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. https://orcid.org/0000-0002-0736-9199 A decreased concentration of free (unbound) carnitine in the blood. UMLS:C4015009 human_phenotype HP:0008315 Decreased plasma free carnitine HP:0008315 A decreased concentration of free (unbound) carnitine in the blood. https://orcid.org/0000-0002-0736-9199 An abnormality of the mitochondria in muscle tissue. UMLS:C4021546 Abnormal mitochondria in muscle human_phenotype HP:0008316 This finding is typically demonstrated by muscle biopsy. Abnormal mitochondria in muscle tissue HP:0008316 An abnormality of the mitochondria in muscle tissue. https://orcid.org/0000-0002-0736-9199 true HP:0008317 Increased alkaline phosphatase measured within leukocytes. UMLS:C4024704 Elevated leukocyte ALP human_phenotype HP:0008318 Elevated leukocyte alkaline phosphatase HP:0008318 Increased alkaline phosphatase measured within leukocytes. https://orcid.org/0000-0002-0736-9199 Elevated leukocyte ALP true HP:0008319 Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. UMLS:C4024703 human_phenotype HP:0008320 Impaired collagen-induced platelet aggregation HP:0008320 Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. https://orcid.org/0000-0002-4381-2442 Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). SNOMEDCT_US:76642003 UMLS:C0015519 UMLS:C4024702 Decreased factor x activity human_phenotype Factor X deficiency HP:0008321 Reduced factor X activity HP:0008321 Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). https://orcid.org/0000-0002-0736-9199 Decreased factor x activity https://orcid.org/0000-0001-6908-9849 Any structural anomaly of the mitochondria. UMLS:C4014650 Abnormal mitochondrion morphology human_phenotype HP:0008322 This feature may be assessed by means of electron microscopy. Abnormal mitochondrial morphology HP:0008322 Any structural anomaly of the mitochondria. https://orcid.org/0000-0002-0736-9199 An abnormality of the combined rod-and-cone response on electroretinogram. UMLS:C3151111 Abnormal rod and cone electroretinogram human_phenotype HP:0008323 The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. Abnormal light- and dark-adapted electroretinogram HP:0008323 An abnormality of the combined rod-and-cone response on electroretinogram. https://orcid.org/0000-0002-0736-9199 true HP:0008324 true HP:0008325 An abnormally decreased concentration of vitamin B6 in the blood circulation. SNOMEDCT_US:386080007 UMLS:C0936215 Reduced circulating vitamin B6 level Reduced vitamin b6 levels Vitamin B6 deficiency human_phenotype HP:0008326 Reduced circulating vitamin B6 circulating HP:0008326 Reduced vitamin b6 levels https://orcid.org/0000-0001-6908-9849 Vitamin B6 deficiency The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. SNOMEDCT_US:236444003 UMLS:C0403474 human_phenotype HP:0008327 The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). Microscopic nephrocalcinosis HP:0008327 The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma. https://orcid.org/0000-0002-0736-9199 true HP:0008328 true HP:0008329 Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. UMLS:C4024701 Decreased von willebrand factor activity human_phenotype HP:0008330 Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). Reduced von Willebrand factor activity HP:0008330 Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. PMID:19694940 https://orcid.org/0000-0002-0736-9199 Decreased von willebrand factor activity https://orcid.org/0000-0001-6908-9849 UMLS:C4024700 Elevated CK after exercise Elevated CPK after exercise Elevated creatine phosphokinase after exercise Elevated phospho-CK after exercise Elevated phospho-creatine kinase after exercise Increased CK after exercise Increased creatine kinase after exercise Increased creatine phosphokinase after exercise Increased phospho-CK after exercise Increased phospho-creatine kinase after exercise human_phenotype HP:0008331 Elevated creatine kinase after exercise HP:0008331 Elevated CK after exercise https://orcid.org/0000-0001-7941-2961 Elevated CPK after exercise Elevated creatine phosphokinase after exercise https://en.wikipedia.org/wiki/creatine_kinase https://orcid.org/0000-0001-6908-9849 Elevated phospho-CK after exercise https://orcid.org/0000-0001-7941-2961 Elevated phospho-creatine kinase after exercise https://en.wikipedia.org/wiki/creatine_kinase https://orcid.org/0000-0001-6908-9849 Increased CK after exercise https://orcid.org/0000-0001-7941-2961 Increased creatine kinase after exercise https://orcid.org/0000-0001-6908-9849 Increased creatine phosphokinase after exercise https://orcid.org/0000-0001-6908-9849 Increased phospho-CK after exercise http://purl.obolibrary.org/obo/hp#abbreviation https://orcid.org/0000-0001-7941-2961 Increased phospho-creatine kinase after exercise https://orcid.org/0000-0001-6908-9849 true HP:0008332 true HP:0008333 true HP:0008334 HP:0003355 UMLS:C0002534 human_phenotype HP:0008335 obsolete Renal aminoaciduria true HP:0008335 UMLS:C3151953 human_phenotype HP:0008336 Complex organic aciduria HP:0008336 true HP:0008337 A partial reduction in level of the complement component Factor D in circulation. UMLS:C4024699 Partial functional adipsin deficiency Partial functional factor d deficiency human_phenotype HP:0008338 Partial functional complement factor D deficiency HP:0008338 Partial functional adipsin deficiency https://en.wikipedia.org/wiki/Factor_D https://orcid.org/0000-0001-6908-9849 Partial functional factor d deficiency https://en.wikipedia.org/wiki/factor_d https://orcid.org/0000-0001-6908-9849 An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). UMLS:C4024698 human_phenotype HP:0008339 Diaminoaciduria HP:0008339 true HP:0008340 A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. SNOMEDCT_US:236461000 SNOMEDCT_US:86210009 UMLS:C1704380 Renal tubular acidosis, type I human_phenotype HP:0008341 Distal renal tubular acidosis HP:0008341 A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. https://orcid.org/0000-0002-0736-9199 true HP:0008342 true HP:0008343 Concentration of a branched chain amino acid in the blood above the upper limit of normal. UMLS:C4024697 human_phenotype HP:0008344 Elevated circulating branched chain amino acid concentration HP:0008344 Concentration of a branched chain amino acid in the blood above the upper limit of normal. HPO_CONTRIBUTOR:gcarletti Underdevelopment of the dilatator pupillae. UMLS:C4024696 Hypoplasia of the pupil dilator muscle Underdeveloped iris dilator muscle Underdeveloped pupil dilator muscle human_phenotype HP:0008345 Hypoplasia of the iris dilator muscle HP:0008345 Underdevelopment of the dilatator pupillae. https://orcid.org/0000-0002-0736-9199 Hypoplasia of the pupil dilator muscle https://orcid.org/0000-0001-6908-9849 Underdeveloped iris dilator muscle https://orcid.org/0000-0001-6908-9849 Underdeveloped pupil dilator muscle https://orcid.org/0000-0001-6908-9849 UMLS:C4024695 Increased sickling of erythrocytes Increased sickling of red cells human_phenotype HP:0008346 Increased red cell sickling tendency HP:0008346 Increased sickling of erythrocytes https://orcid.org/0000-0001-6908-9849 Increased sickling of red cells https://orcid.org/0000-0001-6908-9849 A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. UMLS:C4020800 human_phenotype Respiratory complex IV deficiency HP:0008347 Decreased activity of mitochondrial complex IV HP:0008347 A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. https://orcid.org/0000-0002-0736-9199 A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. HP:0008310 UMLS:C4021545 Decreased IgG2 level in blood Decreased circulating IgG2 level Immunoglobulin IgG2 deficiency Reduced IgG2 levels human_phenotype HP:0008348 Decreased circulating IgG2 concentration HP:0008348 A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. https://orcid.org/0000-0002-0736-9199 true HP:0008349 true HP:0008350 true HP:0008351 An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. UMLS:C4024694 Impaired thrombocytes adhesion human_phenotype HP:0008352 Impaired platelet adhesion HP:0008352 An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation. https://orcid.org/0000-0002-0736-9199 Impaired thrombocytes adhesion https://orcid.org/0000-0001-6908-9849 The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. UMLS:C1856194 human_phenotype HP:0008353 Neutral hyperaminoaciduria HP:0008353 The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. PMID:30177408 Reduced ability to transform factor X into its activated form factor Xa. UMLS:C4024693 human_phenotype HP:0008354 Factor X activation deficiency HP:0008354 Reduced ability to transform factor X into its activated form factor Xa. https://orcid.org/0000-0002-0736-9199 true HP:0008355 HP:0003077 human_phenotype HP:0008356 obsolete Combined hyperlipidemia true HP:0008356 Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. UMLS:C4024692 human_phenotype HP:0008357 Reduced factor XIII activity HP:0008357 Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. https://orcid.org/0000-0002-0736-9199 The concentration of proline in the blood circulation is above the upper limit of normal. SNOMEDCT_US:59655002 UMLS:C0268528 Elevated proline concentration Elevated proline level Elevated proline level in blood Hyperprolinemia Increased proline concentration Increased proline level Increased proline level in blood Prolinemia human_phenotype HP:0008358 Hyperprolinemia HP:0008358 Prolinemia https://orcid.org/0000-0001-6908-9849 true HP:0008359 A neonatal decreased concentration of proteins in the blood. UMLS:C4024691 human_phenotype HP:0008360 Neonatal hypoproteinemia HP:0008360 A neonatal decreased concentration of proteins in the blood. HPO_CONTRIBUTOR:gcarletti UMLS:C4024690 human_phenotype HP:0008361 Corticospinal tract pallor HP:0008361 Absence or underdevelopment of the big toe. 2008-04-04T11:33:00Z HP:0004694 HP:0008118 HP:0008126 UMLS:C1836213 Absent/small big toe Absent/underdeveloped big toe Aplastic/hypoplastic halluces human_phenotype HP:0008362 Aplasia/Hypoplasia of the hallux HP:0008362 Absence or underdevelopment of the big toe. https://orcid.org/0000-0002-0736-9199 Absent/small big toe https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped big toe https://orcid.org/0000-0001-6908-9849 Absence or underdevelopment of the tarsal bones. 2008-04-04T11:35:00Z HP:0008109 UMLS:C1848671 Absent/small ankle bone Absent/underdeveloped ankle bone Aplastic/hypoplastic tarsals human_phenotype HP:0008363 Aplasia/Hypoplasia of the tarsal bones HP:0008363 Absence or underdevelopment of the tarsal bones. https://orcid.org/0000-0002-0736-9199 Absent/small ankle bone https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped ankle bone https://orcid.org/0000-0001-6908-9849 An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. 2008-04-04T11:38:00Z UMLS:C4024689 Abnormal heel bone human_phenotype HP:0008364 Abnormality of the calcaneus HP:0008364 An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. https://orcid.org/0000-0002-0736-9199 Abnormal heel bone https://orcid.org/0000-0001-6908-9849 An abnormality of the talus. 2008-04-04T11:43:00Z UMLS:C4024688 Abnormal large bone of ankle human_phenotype HP:0008365 Abnormal talus morphology HP:0008365 An abnormality of the talus. https://orcid.org/0000-0002-0736-9199 Abnormal large bone of ankle https://orcid.org/0000-0001-6908-9849 Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. 2008-04-04T11:44:00Z HP:0100492 SNOMEDCT_US:239742004 UMLS:C0343149 Contractures involving the joints of the feet Contractures of the foot joints Joint contractures involving the joints of the feet human_phenotype HP:0008366 Foot joint contracture HP:0008366 Contractures of the foot joints https://orcid.org/0000-0001-6908-9849 true HP:0008367 Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). 2008-04-04T11:52:00Z HP:0001851 HP:0001957 HP:0008092 HP:0100330 SNOMEDCT_US:27173008 UMLS:C0265654 Fused ankle bones Synostosis involving tarsal bones Synostosis of tarsal bones Tarsal bone fusion Tarsal bone synostosis Tarsal fusion Tarsal fusions human_phenotype HP:0008368 Tarsal synostosis HP:0008368 Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). https://orcid.org/0000-0002-0736-9199 Fused ankle bones https://orcid.org/0000-0001-5208-3432 An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. 2008-04-04T11:53:00Z UMLS:C4021544 UMLS:C4025075 Abnormal ossification of tarsal bones Hardening of ankle bones human_phenotype Abnormal maturation of ankle bones HP:0008369 Abnormal tarsal ossification HP:0008369 An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. https://orcid.org/0000-0002-0736-9199 Hardening of ankle bones https://orcid.org/0000-0001-6908-9849 Abnormal maturation of ankle bones https://orcid.org/0000-0001-5208-3432 true HP:0008370 Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. 2008-04-04T11:59:00Z UMLS:C4021543 Abnormal ossification involving metatarsal bones human_phenotype Abnormal maturation of long bone of foot HP:0008371 Abnormal metatarsal ossification HP:0008371 Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of long bone of foot https://orcid.org/0000-0001-5208-3432 Concentration of vitamin A in the blood circulation outside limits of normal. 2008-04-04T12:29:00Z UMLS:C4024686 human_phenotype HP:0008372 Abnormal circulating vitamin A concentration HP:0008372 2008-04-04T12:35:00Z HP:0000827 UMLS:C4024685 Puberty and gonadal disorders human_phenotype HP:0008373 Puberty and gonadal disorders HP:0008373 Puberty and gonadal disorders true HP:0008374 true HP:0008375 UMLS:C1834664 Breathy speech human_phenotype HP:0008376 Nasal dysarthria HP:0008376 Breathy speech https://orcid.org/0000-0001-6908-9849 true HP:0008377 true HP:0008378 true HP:0008379 true HP:0008380 true HP:0008381 true HP:0008382 Nails whose growth is slower than normal. HP:0008411 UMLS:C1835238 Slow-growing nails human_phenotype HP:0008383 Slow-growing nails HP:0008383 Nails whose growth is slower than normal. https://orcid.org/0000-0002-0736-9199 Slow-growing nails true HP:0008384 true HP:0008385 Aplasia or developmental hypoplasia of the nail. HP:0008385 UMLS:C1859077 Absent/hypoplastic nails Absent/small nails Absent/underdeveloped nails Nail aplasia/hypoplasia human_phenotype HP:0008386 Aplasia/Hypoplasia of the nails HP:0008386 Aplasia or developmental hypoplasia of the nail. https://orcid.org/0000-0002-0736-9199 Absent/small nails https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped nails https://orcid.org/0000-0001-6908-9849 true HP:0008387 An anomaly of the toenail. SNOMEDCT_US:700189007 UMLS:C3839753 Abnormality of the toenail Abnormality of the toenails human_phenotype HP:0008388 Abnormal toenail morphology HP:0008388 An anomaly of the toenail. https://orcid.org/0000-0002-0736-9199 Abnormality of the toenail Abnormality of the toenails true HP:0008389 Repeated loss, or shedding, of the nails of the fingers and toes. UMLS:C4021542 Recurrent loss of toenails and fingernails Recurrent shedding of toenails and fingernails human_phenotype HP:0008390 Recurrent loss of toenails and fingernails HP:0008390 Repeated loss, or shedding, of the nails of the fingers and toes. https://orcid.org/0000-0003-1773-4011 Recurrent loss of toenails and fingernails Recurrent shedding of toenails and fingernails The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. UMLS:C3551426 Poor fingernail formation human_phenotype HP:0008391 Dystrophic fingernails HP:0008391 The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. https://orcid.org/0000-0002-0736-9199 Poor fingernail formation http://naildystrophy.com/ https://orcid.org/0000-0001-5208-3432 A thickening of the stratum corneum in the region beneath the nails. SNOMEDCT_US:10165000 UMLS:C0038605 Thickened, discolored skin under nail Thickened, discoloured skin under nail human_phenotype HP:0008392 Subungual hyperkeratosis HP:0008392 A thickening of the stratum corneum in the region beneath the nails. https://orcid.org/0000-0002-0736-9199 Thickened, discolored skin under nail https://orcid.org/0000-0001-6908-9849 Thickened, discoloured skin under nail UMLS:C4024684 human_phenotype HP:0008393 Congenital curved nail of fourth toe HP:0008393 Congenital malformed nails UMLS:C1393669 UMLS:C4280413 human_phenotype HP:0008394 Congenital onychodystrophy HP:0008394 Congenital malformed nails https://orcid.org/0000-0001-6908-9849 true HP:0008395 Chronic infection of the nails by Candida species. UMLS:C4024683 Fungal infection of the nail human_phenotype HP:0008396 Chronic monilial nail infection HP:0008396 Chronic infection of the nails by Candida species. https://orcid.org/0000-0002-0736-9199 true HP:0008397 A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. HP:0200103 UMLS:C4024682 Underdeveloped fifth fingernail Underdeveloped fingernail of little finger Underdeveloped fingernail of pinkie finger Underdeveloped fingernail of pinky finger human_phenotype HP:0008398 Hypoplastic fifth fingernail HP:0008398 A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. https://orcid.org/0000-0002-0736-9199 Underdeveloped fifth fingernail https://orcid.org/0000-0001-6908-9849 Underdeveloped fingernail of little finger https://orcid.org/0000-0001-6908-9849 Underdeveloped fingernail of pinkie finger https://orcid.org/0000-0001-6908-9849 Underdeveloped fingernail of pinky finger https://orcid.org/0000-0001-6908-9849 A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. UMLS:C4024681 Thick skin around nails human_phenotype HP:0008399 Circumungual hyperkeratosis HP:0008399 A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails. https://orcid.org/0000-0002-0736-9199 Thick skin around nails https://orcid.org/0000-0001-6908-9849 Detachment of the distal fingernails from the nail bed. UMLS:C4024680 Detachment of outermost fingernails human_phenotype HP:0008400 Onycholysis of distal fingernails HP:0008400 Detachment of the distal fingernails from the nail bed. https://orcid.org/0000-0002-0736-9199 Detachment of outermost fingernails https://orcid.org/0000-0001-5208-3432 Thickened toenails. HP:0008395 HP:0008405 UMLS:C4024679 Overgrowth and curving of toenails human_phenotype HP:0008401 Onychogryphosis of toenails HP:0008401 Thickened toenails. https://orcid.org/0000-0002-0736-9199 Overgrowth and curving of toenails https://orcid.org/0000-0001-5208-3432 Longitudinal, linear prominences in the fingernail plate. UMLS:C1849392 Longitudinally grooved fingernails Ridged fingernail human_phenotype Ridged fingernails HP:0008402 Ridged fingernail HP:0008402 Longitudinal, linear prominences in the fingernail plate. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Longitudinally grooved fingernails Ridged fingernail Ridged fingernails https://orcid.org/0000-0002-5316-1399 true HP:0008403 Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. HP:0008382 HP:0008397 HP:0008408 MEDDRA:10028698 SNOMEDCT_US:87065009 UMLS:C0221260 Dystrophic nails Onychodystrophy Poor nail formation human_phenotype HP:0008404 Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. Nail dystrophy HP:0008404 Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. PMID:19675700 MEDDRA:10028698 Nail dystrophy Poor nail formation http://naildystrophy.com/ https://orcid.org/0000-0001-5208-3432 true HP:0008405 true HP:0008406 UMLS:C1855290 Tightly curved thumb nail human_phenotype HP:0008407 Hyperconvex thumb nails HP:0008407 Tightly curved thumb nail https://orcid.org/0000-0001-6908-9849 true HP:0008408 true HP:0008409 UMLS:C1852311 human_phenotype HP:0008410 Subungual hyperkeratotic fragments HP:0008410 true HP:0008411 true HP:0008412 true HP:0008413 UMLS:C1863423 Hunched back in infancy Round back in infancy human_phenotype HP:0008414 Lumbar kyphosis in infancy HP:0008414 Hunched back in infancy https://orcid.org/0000-0001-6908-9849 Round back in infancy https://orcid.org/0000-0001-6908-9849 true HP:0008415 UMLS:C1839279 human_phenotype HP:0008416 Six lumbar vertebrae HP:0008416 Small, underdeveloped vertebral bodies. HP:0008431 SNOMEDCT_US:205456006 UMLS:C0345394 Underdeveloped vertebrae human_phenotype HP:0008417 Vertebral hypoplasia HP:0008417 Small, underdeveloped vertebral bodies. https://orcid.org/0000-0002-0736-9199 Underdeveloped vertebrae UMLS:C1849051 human_phenotype HP:0008418 Squared-off platyspondyly HP:0008418 The presence of degenerative changes of intervertebral disk. SNOMEDCT_US:77547008 UMLS:C0158266 Degeneration of intervertebral discs Degeneration of intervertebral disks Degenerative disc disease Degenerative disk disease Degenerative intervertebral disc Degenerative intervertebral disk human_phenotype HP:0008419 Intervertebral disk degeneration HP:0008419 The presence of degenerative changes of intervertebral disk. https://orcid.org/0000-0002-0736-9199 Degeneration of intervertebral discs Degenerative disc disease Degenerative disk disease https://orcid.org/0000-0001-6908-9849 Degenerative intervertebral disc The presence of punctiform calcification of the bone of the vertebral bodies. UMLS:C4024678 human_phenotype HP:0008420 Punctate vertebral calcifications HP:0008420 The presence of punctiform calcification of the bone of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 UMLS:C1863313 human_phenotype HP:0008421 Tall lumbar vertebral bodies HP:0008421 An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. UMLS:C1695776 Wedge-shaped vertebrae Wedged vertebrae anterior wedging human_phenotype HP:0008422 Vertebral wedging HP:0008422 An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. https://orcid.org/0000-0002-0736-9199 Wedge-shaped vertebrae The presence of developmental dysplasia of the vertebral column. UMLS:C4021853 human_phenotype HP:0008423 Spinal dysplasia HP:0008423 The presence of developmental dysplasia of the vertebral column. https://orcid.org/0000-0002-0736-9199 UMLS:C1859366 Underdeveloped 5th lumbar vertebrae human_phenotype HP:0008424 Hypoplastic 5th lumbar vertebrae HP:0008424 Underdeveloped 5th lumbar vertebrae https://orcid.org/0000-0001-6908-9849 UMLS:C1855289 human_phenotype HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies HP:0008425 true HP:0008426 true HP:0008427 Schisis (cleft or cleavage) of vertebral bodies. HP:0000942 UMLS:C1855828 Vertebral clefts human_phenotype HP:0008428 Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. Vertebral clefting HP:0008428 Schisis (cleft or cleavage) of vertebral bodies. https://orcid.org/0000-0002-0736-9199 true HP:0008429 Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. HP:0005664 UMLS:C4021541 Anterior tongue-like protrusion of lumbar vertebral bodies human_phenotype HP:0008430 Anterior beaking of lumbar vertebrae HP:0008430 Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. https://orcid.org/0000-0002-0736-9199 true HP:0008431 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). UMLS:C4024677 human_phenotype HP:0008432 Anterior wedging of L1 HP:0008432 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). https://orcid.org/0000-0002-0736-9199 UMLS:C4024676 human_phenotype HP:0008433 Reversed usual vertebral column curves HP:0008433 HP:0008415 UMLS:C1835570 Cervical vertebrae hypoplasia Underdeveloped cervical vertebrae human_phenotype HP:0008434 Hypoplastic cervical vertebrae HP:0008434 Underdeveloped cervical vertebrae https://orcid.org/0000-0001-6908-9849 UMLS:C1842698 human_phenotype HP:0008435 Absent in utero ossification of vertebral bodies HP:0008435 UMLS:C1856644 Absent/small tailbone Absent/underdeveloped tailbone human_phenotype HP:0008436 Absent/hypoplastic coccyx HP:0008436 Absent/small tailbone https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped tailbone https://orcid.org/0000-0001-6908-9849 UMLS:C2751478 human_phenotype HP:0008437 Bifid thoracic vertebrae HP:0008437 A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. UMLS:C1835764 Vertebral arch abnormalities human_phenotype HP:0008438 A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. Vertebral arch anomaly HP:0008438 A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. https://orcid.org/0000-0002-0736-9199 Absence of one half of the vertebral body in the lumbar spine. SNOMEDCT_US:93167001 UMLS:C0432149 human_phenotype HP:0008439 Lumbar hemivertebrae HP:0008439 Absence of one half of the vertebral body in the lumbar spine. https://orcid.org/0000-0002-0736-9199 Any abnormality of the atlas and the axis. UMLS:C4024675 human_phenotype HP:0008440 The atlas is the first cervical vertebral body and the axis is the second vertebral body. C1-C2 vertebral abnormality HP:0008440 Any abnormality of the atlas and the axis. https://orcid.org/0000-0002-0736-9199 The presence of one or more herniated nucleus pulposus of intervertebral disk. Herniated disc Herniated disk SNOMEDCT_US:73589001 UMLS:C0021818 UMLS:C1832597 Herniated intervertebral nuclei human_phenotype HP:0008441 Herniation of intervertebral nuclei HP:0008441 The presence of one or more herniated nucleus pulposus of intervertebral disk. https://orcid.org/0000-0002-0736-9199 Herniated disc Herniated disk https://orcid.org/0000-0001-6908-9849 Excessive growth of the bones of the vertebral bodies. UMLS:C1834057 human_phenotype HP:0008442 Vertebral hyperostosis HP:0008442 Excessive growth of the bones of the vertebral bodies. https://orcid.org/0000-0002-0736-9199 A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. SNOMEDCT_US:298380006 UMLS:C0575157 Charcot spinal arthropathy Spinal deformities Spinal neuroarthropathy human_phenotype HP:0008443 Neuropathic spinal arthropathy presents almost exclusively in patients who have suffered traumatic spinal cord injury or less commonly, secondary to syringomyelia, meningocele, myelomeningocele, diabetes mellitus, peripheral neuropathies, anesthetic leprosy, congenital analgesia, Parkinson's disease, arachnoiditis, transverse myelitis, and others. Neuropathic spinal arthropathy HP:0008443 A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. PMID:29755231 An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). UMLS:C1969679 Posterior wedging human_phenotype HP:0008444 Posterior wedging of vertebral bodies HP:0008444 An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). https://orcid.org/0000-0002-0736-9199 An abnormal narrowing of the cervical spinal canal. UMLS:C1844925 Narrow cervical spinal canal human_phenotype HP:0008445 Cervical spinal canal stenosis HP:0008445 An abnormal narrowing of the cervical spinal canal. https://orcid.org/0000-0002-0736-9199 true HP:0008446 UMLS:C2751480 human_phenotype HP:0008447 Hypoplastic coccygeal vertebrae HP:0008447 true HP:0008448 UMLS:C1851129 human_phenotype HP:0008449 Progressive cervical vertebral spine fusion HP:0008449 A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. HP:0008426 HP:0008448 HP:0008474 UMLS:C1832598 Interpedicular narrowing Narrow interpedicular space Narrow interpediculate distances Narrowing of interpediculate distances human_phenotype HP:0008450 Narrow vertebral interpedicular distance HP:0008450 A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. https://orcid.org/0000-0002-0736-9199 UMLS:C1856780 human_phenotype HP:0008451 Posterior vertebral hypoplasia HP:0008451 UMLS:C1865124 human_phenotype HP:0008452 Wafer-thin platyspondyly HP:0008452 SNOMEDCT_US:405772002 UMLS:C0345392 human_phenotype HP:0008453 Congenital kyphoscoliosis HP:0008453 Over curvature of the lumbar region. HP:0008487 UMLS:C1844818 Lumbar gibbus deformity Rounded lower back human_phenotype HP:0008454 Lumbar kyphosis HP:0008454 Over curvature of the lumbar region. https://orcid.org/0000-0002-0736-9199 Rounded lower back https://orcid.org/0000-0001-6908-9849 A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. UMLS:C1851305 Absence of some of the sacral and coccygeal bones Partial sacral agenesis Sacral dysgenesis human_phenotype HP:0008455 Dysplastic sacrum HP:0008455 Absence of some of the sacral and coccygeal bones A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. UMLS:C2678323 human_phenotype HP:0008456 C2-C3 subluxation HP:0008456 A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. https://orcid.org/0000-0002-0736-9199 Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. UMLS:C1863734 Caudal narrowing of interpedicular distances human_phenotype HP:0008457 Caudal interpedicular narrowing HP:0008457 Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. https://orcid.org/0000-0002-0736-9199 A progressive form of scoliosis with congenital onset. UMLS:C1857025 human_phenotype HP:0008458 Progressive congenital scoliosis HP:0008458 A progressive form of scoliosis with congenital onset. https://orcid.org/0000-0002-0736-9199 Agenesis of one or more vertebrae of the cervical vertebral column. SNOMEDCT_US:91880006 UMLS:C0432160 Cervical vertebrae agenesis Missing cervical vertebrae human_phenotype HP:0008459 Cervical vertebral agenesis HP:0008459 Agenesis of one or more vertebrae of the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 Missing cervical vertebrae https://orcid.org/0000-0001-6908-9849 UMLS:C4024674 Underdeveloped spinal processes human_phenotype HP:0008460 Hypoplastic spinal processes HP:0008460 Underdeveloped spinal processes https://orcid.org/0000-0001-6908-9849 UMLS:C4024673 human_phenotype HP:0008461 Cervical vertebral facet hypoplasia HP:0008461 UMLS:C1863314 human_phenotype HP:0008462 Cervical instability HP:0008462 UMLS:C4024672 human_phenotype HP:0008463 Central vertebral hypoplasia HP:0008463 UMLS:C4024671 human_phenotype HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebrae HP:0008464 A developmental defect characterized by agenesis of one or more vertebral bodies. SNOMEDCT_US:15843004 UMLS:C0158776 Absent vertebrae human_phenotype HP:0008465 Absent vertebra HP:0008465 A developmental defect characterized by agenesis of one or more vertebral bodies. PMID:26167231 Absent vertebrae true HP:0008466 Absence of one half of the vertebral body in the thoracic spine. HP:0004604 SNOMEDCT_US:95304000 UMLS:C0432152 UMLS:C4020799 Midthoracic hemivertebrae human_phenotype HP:0008467 Thoracic hemivertebrae HP:0008467 Absence of one half of the vertebral body in the thoracic spine. https://orcid.org/0000-0002-0736-9199 An abnormality related to a defect of vertebral separation of sacral vertebrae during development. UMLS:C1968942 human_phenotype HP:0008468 Abnormal sacral segmentation HP:0008468 Dysplasia of the cervical vertebral column. UMLS:C1861693 human_phenotype HP:0008469 Cervical vertebral dysplasia HP:0008469 Dysplasia of the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 A reduction of the distance between the lower thoracic vertebral pedicles. UMLS:C1854940 Narrowness of interpediculate distances in lower thoracic regions human_phenotype HP:0008470 Lower thoracic interpediculate narrowness HP:0008470 A reduction of the distance between the lower thoracic vertebral pedicles. https://orcid.org/0000-0002-0736-9199 true HP:0008471 Large tailbone UMLS:C1850044 UMLS:C4280412 Prominent protruding tailbone human_phenotype HP:0008472 Prominent protruding coccyx HP:0008472 Large tailbone https://orcid.org/0000-0001-6908-9849 Prominent protruding tailbone https://orcid.org/0000-0001-6908-9849 An abnormal reduction of the anterioposterior diameter of the vertebral body. HP:0005732 UMLS:C4021540 Reduced anterior-posterior diameter of vertebral bodies Reduced sagittal diameter of vertebrae human_phenotype HP:0008473 Narrow anterio-posterior vertebral body diameter HP:0008473 An abnormal reduction of the anterioposterior diameter of the vertebral body. https://orcid.org/0000-0002-0736-9199 true HP:0008474 UMLS:C2751479 human_phenotype HP:0008475 Hypoplastic sacral vertebrae HP:0008475 HP:0004624 UMLS:C1868554 irregular, dense end plate human_phenotype HP:0008476 Irregular sclerotic endplates HP:0008476 Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. UMLS:C4024670 human_phenotype HP:0008477 Poorly ossified cervical vertebrae HP:0008477 Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. https://orcid.org/0000-0002-0736-9199 UMLS:C1844926 human_phenotype HP:0008478 Scheuermann-like vertebral changes HP:0008478 HP:0002773 UMLS:C1863353 Small vertebrae Small vertebral bodies Underdeveloped back bones human_phenotype HP:0008479 Hypoplastic vertebral bodies HP:0008479 Underdeveloped back bones https://orcid.org/0000-0002-6548-5200 Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. HP:0025266 SNOMEDCT_US:387800004 SNOMEDCT_US:387801000 UMLS:C0263854 UMLS:C1384641 Cervical osteoarthritis Cervical spine degeneration Neck arthritis human_phenotype HP:0008480 When osteoarthritis affects the spine, it is known as spondylosis. Cervical spondylosis HP:0008480 Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 Cervical osteoarthritis https://orcid.org/0000-0001-6908-9849 Cervical spine degeneration Neck arthritis https://orcid.org/0000-0001-6908-9849 true HP:0008481 UMLS:C4024669 human_phenotype HP:0008482 Asymmetry of spinal facet joints HP:0008482 UMLS:C1847393 human_phenotype HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter HP:0008483 A reduction of the distance between thoracolumbar vertebral pedicles. UMLS:C1864364 Narrow thoracolumbar interpediculate distance human_phenotype HP:0008484 Thoracolumbar interpediculate narrowness HP:0008484 A reduction of the distance between thoracolumbar vertebral pedicles. https://orcid.org/0000-0002-0736-9199 true HP:0008485 Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. UMLS:C1849079 Decreasing lumbar vertebrae interpediculate distance human_phenotype HP:0008486 Lumbar interpedicular narrowing HP:0008486 Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. https://orcid.org/0000-0002-0736-9199 true HP:0008487 UMLS:C1850043 human_phenotype HP:0008488 Anterior rounding of vertebral bodies HP:0008488 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). HP:0005779 UMLS:C3275799 Spondylolysis and spondylolisthesis of l5 human_phenotype HP:0008489 Spondylolisthesis at L5-S1 HP:0008489 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1). https://orcid.org/0000-0002-0736-9199 UMLS:C1850329 human_phenotype HP:0008490 Sacral segmentation defect HP:0008490 Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. UMLS:C4024668 human_phenotype HP:0008491 Premature anterior fontanel closure HP:0008491 Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. https://orcid.org/0000-0002-0736-9199 true HP:0008492 true HP:0008493 Partial displacement of the lens in the inferior direction. UMLS:C2036842 Inferior subluxated lens human_phenotype HP:0008494 Inferior lens subluxation HP:0008494 Partial displacement of the lens in the inferior direction. https://orcid.org/0000-0002-0736-9199 Inferior subluxated lens https://orcid.org/0000-0001-6908-9849 true HP:0008495 SNOMEDCT_US:95339000 UMLS:C0423848 UMLS:C3550336 Extra rows of eyelashes Multiple rows of eyelashes Double row of eyelashes Two rows of eyelashes human_phenotype HP:0008496 Multiple rows of eyelashes HP:0008496 Extra rows of eyelashes https://orcid.org/0000-0001-5889-4463 Multiple rows of eyelashes Double row of eyelashes https://orcid.org/0000-0001-5889-4463 Two rows of eyelashes https://orcid.org/0000-0001-5889-4463 UMLS:C4024667 human_phenotype HP:0008497 Congenital craniofacial dysostosis HP:0008497 HP:0006349 human_phenotype HP:0008498 obsolete No permanent dentition true HP:0008498 A severe form of hypermetropia with over +5.00 diopters. UMLS:C4024665 High hyperopia High-grade hypermetropia Severe farsightedness Severe long-sightedness human_phenotype HP:0008499 High hypermetropia HP:0008499 A severe form of hypermetropia with over +5.00 diopters. HPO_CONTRIBUTOR:DDD_ncarter https://orcid.org/0000-0003-0986-4123 Severe farsightedness https://orcid.org/0000-0001-6908-9849 Severe long-sightedness https://orcid.org/0000-0001-6908-9849 true HP:0008500 HP:0009099 human_phenotype HP:0008501 obsolete Median cleft lip and palate true HP:0008501 true HP:0008502 true HP:0008503 The presence of a moderate form of sensorineural hearing impairment. UMLS:C4020798 UMLS:C4024664 human_phenotype Moderate neural deafness HP:0008504 Moderate sensorineural hearing impairment HP:0008504 The presence of a moderate form of sensorineural hearing impairment. https://orcid.org/0000-0002-0736-9199 true HP:0008505 true HP:0008506 UMLS:C4024663 human_phenotype HP:0008507 Static ophthalmoparesis HP:0008507 true HP:0008508 UMLS:C3550331 human_phenotype HP:0008509 Aged leonine appearance HP:0008509 true HP:0008510 Reduced transparency of the central posterior portion of the corneal stroma. SNOMEDCT_US:246967007 UMLS:C0423260 human_phenotype HP:0008511 Central posterior corneal opacity HP:0008511 Reduced transparency of the central posterior portion of the corneal stroma. https://orcid.org/0000-0002-0736-9199 true HP:0008512 A bilateral type of conductive hearing impairment. HP:0008536 SNOMEDCT_US:194417009 UMLS:C0452136 Bilateral conductive deafness Bilateral conductive hearing loss human_phenotype HP:0008513 Bilateral conductive hearing impairment HP:0008513 A bilateral type of conductive hearing impairment. https://orcid.org/0000-0002-0736-9199 true HP:0008514 2008-04-04T02:30:00Z UMLS:C4024662 Absent/small vertebrae Absent/underdeveloped vertebrae human_phenotype HP:0008515 Aplasia/Hypoplasia of the vertebrae HP:0008515 Absent/small vertebrae https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped vertebrae https://orcid.org/0000-0001-5208-3432 2008-04-04T02:31:00Z UMLS:C4024661 human_phenotype HP:0008516 Abnormality of the vertebral spinous processes HP:0008516 Aplasia or developmental hypoplasia of the sacral bone. 2008-04-04T02:32:00Z UMLS:C4024660 Absent/small sacrum Absent/underdeveloped sacrum human_phenotype HP:0008517 Aplasia/Hypoplasia of the sacrum HP:0008517 Aplasia or developmental hypoplasia of the sacral bone. https://orcid.org/0000-0002-0736-9199 Absent/small sacrum https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped sacrum https://orcid.org/0000-0001-5208-3432 2008-04-04T02:33:00Z UMLS:C4024659 Absent/small backbone Absent/small spine Absent/small vertebral column Absent/underdeveloped backbone Absent/underdeveloped spine Absent/underdeveloped vertebral column human_phenotype HP:0008518 Aplasia/Hypoplasia involving the vertebral column HP:0008518 Absent/small backbone https://orcid.org/0000-0001-6908-9849 Absent/small spine https://orcid.org/0000-0001-6908-9849 Absent/small vertebral column https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped backbone https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped spine https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped vertebral column https://orcid.org/0000-0001-5208-3432 Any structural abnormality of the coccyx. 2008-04-04T02:41:00Z HP:0002830 UMLS:C4024658 Abnormal tailbone Abnormality of the coccyx human_phenotype HP:0008519 Abnormal coccyx morphology HP:0008519 Any structural abnormality of the coccyx. https://orcid.org/0000-0002-0736-9199 Abnormal tailbone https://orcid.org/0000-0001-6908-9849 true HP:0008520 true HP:0008521 true HP:0008522 Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. UMLS:C4021539 Ear, posterior helical groove Ear, posterior helical notch Helix, posterior pit Indentation in back of outer ear Pits in posterior aspect of ear helices human_phenotype HP:0008523 They are usually linear to a narrow oval in shape and may be single or multiple. Posterior helix pit HP:0008523 Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. PMID:19152421 Indentation in back of outer ear https://orcid.org/0000-0001-6908-9849 true HP:0008524 true HP:0008525 true HP:0008526 A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. HP:0004455 HP:0004457 HP:0008520 HP:0008521 HP:0008540 HP:0008543 HP:0008545 HP:0008546 HP:0008556 HP:0008558 HP:0008561 HP:0008571 HP:0008603 HP:0008612 HP:0008620 SNOMEDCT_US:700453005 UMLS:C1865866 Bilateral congenital sensorineural deafness Congenital neurosensory deafness Congenital perceptive deafness Congenital sensorineural deafness Congenital sensorineural hearing loss Hearing loss, congenital sensorineural human_phenotype HP:0008527 Congenital sensorineural hearing impairment HP:0008527 A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. https://orcid.org/0000-0002-0736-9199 Ear hair SNOMEDCT_US:27394002 UMLS:C0222050 UMLS:C4024657 Long hairs growing from helix of ear human_phenotype HP:0008528 Long hairs growing from helix of pinna HP:0008528 Ear hair https://orcid.org/0000-0001-6908-9849 Long hairs growing from helix of ear https://orcid.org/0000-0001-6908-9849 Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. HP:0008595 UMLS:C1832834 Absence of acoustic middle ear muscle reflexes Absent middle ear reflexes Absent stapedius reflexes human_phenotype HP:0008529 Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. Absence of acoustic reflex HP:0008529 Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. https://orcid.org/0000-0002-0736-9199 true HP:0008530 true HP:0008531 true HP:0008532 true HP:0008533 true HP:0008534 true HP:0008535 true HP:0008536 UMLS:C1865302 Cleft at the superior portion of the ear human_phenotype HP:0008537 This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. Cleft at the superior portion of the pinna HP:0008537 Cleft at the superior portion of the ear https://orcid.org/0000-0001-6908-9849 true HP:0008538 true HP:0008539 true HP:0008540 UMLS:C1850190 human_phenotype High set ears HP:0008541 Superiorly displaced ears HP:0008541 High set ears https://orcid.org/0000-0001-6908-9849 A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). SNOMEDCT_US:42538001 UMLS:C0271514 Low-frequency hearing loss human_phenotype HP:0008542 Low-frequency hearing loss HP:0008542 A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). https://orcid.org/0000-0002-0736-9199 Low-frequency hearing loss true HP:0008543 Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. UMLS:C1970777 human_phenotype HP:0008544 Abnormally folded helix HP:0008544 Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape. PMID:19152421 true HP:0008545 true HP:0008546 true HP:0008547 true HP:0008548 true HP:0008549 true HP:0008550 Underdevelopment of the external ear. HP:0000393 HP:0000409 HP:0008550 HP:0008618 HP:0008621 SNOMEDCT_US:35045004 UMLS:C0152423 Bilateral microtia Hypoplasia of the external ear Hypoplastic ears Hypoplastic pinna Small ears Small pinnae Underdeveloped ears human_phenotype HP:0008551 The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. Microtia HP:0008551 Underdevelopment of the external ear. PMID:19152421 PMID:3270622 https://orcid.org/0000-0002-0736-9199 Small ears Underdeveloped ears true HP:0008552 true HP:0008553 The presence of a malformed cochlea. UMLS:C1862050 human_phenotype HP:0008554 A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. Cochlear malformation HP:0008554 The presence of a malformed cochlea. https://orcid.org/0000-0002-0736-9199 Complete lack of functioning of the vestibular apparatus. UMLS:C4024656 human_phenotype HP:0008555 Absent vestibular function HP:0008555 Complete lack of functioning of the vestibular apparatus. https://orcid.org/0000-0002-0736-9199 true HP:0008556 true HP:0008557 true HP:0008558 HP:0008627 UMLS:C1865305 Underdeveloped superior helices human_phenotype HP:0008559 Hypoplastic superior helix HP:0008559 true HP:0008560 true HP:0008561 true HP:0008562 true HP:0008563 true HP:0008564 true HP:0008565 true HP:0008566 true HP:0008567 Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. HP:0008526 SNOMEDCT_US:22443004 UMLS:C0235927 UMLS:C4015052 human_phenotype Vestibular ataxia HP:0008568 Vestibular areflexia HP:0008568 Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. PMID:26918204 https://orcid.org/0000-0002-0736-9199 Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. UMLS:C4020694 UMLS:C4020792 UMLS:C4020793 UMLS:C4020794 UMLS:C4020795 UMLS:C4020796 UMLS:C4020797 human_phenotype Cockleshell ear Constricted helix type IV Ear, grade II dysplasia Mini ear Severe cupped ear, type III Shell ear Snail ear HP:0008569 Microtia, second degree HP:0008569 Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. PMID:19152421 eom:ae27d9699faef13a Cockleshell ear Mini ear Shell ear Snail ear true HP:0008570 true HP:0008571 HP:0000377 human_phenotype HP:0008572 obsolete External ear malformation true HP:0008572 A form of sensorineural hearing impairment that affects primarily the lower frequencies. UMLS:C3810445 Low-frequency sensorineural hearing loss human_phenotype HP:0008573 Low-frequency sensorineural hearing impairment HP:0008573 A form of sensorineural hearing impairment that affects primarily the lower frequencies. https://orcid.org/0000-0002-0736-9199 true HP:0008574 true HP:0008575 true HP:0008576 Underdevelopment of the helix that either affects the entire helix, or is localized. UMLS:C1849735 Poorly folded helices human_phenotype HP:0008577 Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. Underfolded helix HP:0008577 Underdevelopment of the helix that either affects the entire helix, or is localized. PMID:19152421 true HP:0008578 true HP:0008579 true HP:0008580 true HP:0008581 true HP:0008582 A condition in which the superior portion of the helix is folded over to a lesser degree than normal. UMLS:C4024655 human_phenotype HP:0008583 Underfolded superior helices HP:0008583 A condition in which the superior portion of the helix is folded over to a lesser degree than normal. https://orcid.org/0000-0002-0736-9199 true HP:0008584 true HP:0008585 Developmental hypoplasia of the cochlea. UMLS:C2676974 Hypoplastic cochlea Underdeveloped cochlea human_phenotype HP:0008586 Hypoplasia of the cochlea HP:0008586 Developmental hypoplasia of the cochlea. https://orcid.org/0000-0002-0736-9199 Underdeveloped cochlea https://orcid.org/0000-0001-6908-9849 The presence of a mild form of sensorineural hearing impairment. UMLS:C4021538 Mild neurosensory hearing loss human_phenotype HP:0008587 A neurosensory hearing loss with a deficit of 21-40 dB. Mild neurosensory hearing impairment HP:0008587 The presence of a mild form of sensorineural hearing impairment. https://orcid.org/0000-0002-0736-9199 A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. UMLS:C1846459 human_phenotype HP:0008588 Slit-like opening of the exterior auditory meatus HP:0008588 A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. PMID:12843316 Underdevelopment of the helix, i.e., of the outer rim of the pinna. UMLS:C1842681 Underdeveloped helices human_phenotype HP:0008589 Hypoplastic helices HP:0008589 Underdevelopment of the helix, i.e., of the outer rim of the pinna. https://orcid.org/0000-0002-0736-9199 Underdeveloped helices https://orcid.org/0000-0001-6908-9849 true HP:0008590 A type of conductive deafness with congenital onset. HP:0008525 UMLS:C4021537 Congenital conductive deafness Congenital conductive hearing loss human_phenotype HP:0008591 Congenital conductive hearing impairment HP:0008591 A type of conductive deafness with congenital onset. https://orcid.org/0000-0002-0736-9199 true HP:0008592 Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. UMLS:C1968811 Enlarged antitragus Hyperplastic antitragus Hypertrophic antitragus human_phenotype HP:0008593 Prominent antitragus HP:0008593 Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. PMID:19152421 https://orcid.org/0000-0002-0736-9199 true HP:0008594 true HP:0008595 A form of sensorineural hearing impairment with onset after the acquisition of speech. UMLS:C4024654 human_phenotype HP:0008596 Postlingual sensorineural hearing impairment HP:0008596 A form of sensorineural hearing impairment with onset after the acquisition of speech. https://orcid.org/0000-0002-0736-9199 true HP:0008597 A mild form of conductive hearing impairment. UMLS:C4021536 Conductive hearing loss, mild human_phenotype HP:0008598 Conductive hearing impairment with 21-40 dB deficit. Mild conductive hearing impairment HP:0008598 A mild form of conductive hearing impairment. https://orcid.org/0000-0002-0736-9199 true HP:0008599 true HP:0008600 true HP:0008601 true HP:0008602 true HP:0008603 true HP:0008604 UMLS:C1834043 Deformed external ear on one side human_phenotype HP:0008605 Unilateral external ear deformity HP:0008605 Deformed external ear on one side https://orcid.org/0000-0001-5208-3432 Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. UMLS:C1862059 Pit above the ear Supraauricular fistula Supraauricular sinus Supraauricular sinuses human_phenotype HP:0008606 Supraauricular pit HP:0008606 Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. https://orcid.org/0009-0006-4530-3154 Pit above the ear https://orcid.org/0000-0001-5889-4463 Supraauricular fistula https://orcid.org/0000-0001-5889-4463 A progressive type of conductive deafness. UMLS:C1861325 Progressive conductive deafness human_phenotype HP:0008607 Progressive conductive hearing impairment HP:0008607 A progressive type of conductive deafness. https://orcid.org/0000-0002-0736-9199 UMLS:C1857263 human_phenotype HP:0008608 Hypertrophic auricular cartilage HP:0008608 An abnormality of the morphology or structure of the middle ear. UMLS:C1857456 Middle ear malformation Morphological abnormality of the middle ear human_phenotype HP:0008609 Abnormal middle ear morphology HP:0008609 An abnormality of the morphology or structure of the middle ear. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Middle ear malformation Morphological abnormality of the middle ear A form of sensorineural hearing impairment with infantile onset. UMLS:C4021535 Infantile sensorineural hearing loss human_phenotype HP:0008610 Infantile sensorineural hearing impairment HP:0008610 A form of sensorineural hearing impairment with infantile onset. https://orcid.org/0000-0002-0736-9199 true HP:0008611 true HP:0008612 true HP:0008613 true HP:0008614 The presence of sensorineural deafness with late onset. HP:0008532 HP:0008599 UMLS:C4021534 Late sensorineural hearing loss Sensorineural deafness, late-onset human_phenotype HP:0008615 Adult onset sensorineural hearing impairment HP:0008615 The presence of sensorineural deafness with late onset. https://orcid.org/0000-0002-0736-9199 true HP:0008616 true HP:0008617 true HP:0008618 A form of sensorineural hearing impairment that affects both ears. HP:0008530 HP:0008539 HP:0008579 HP:0008585 SNOMEDCT_US:194424005 UMLS:C0452138 Bilateral nerve deafness Bilateral sensorineural deafness Bilateral sensorineural hearing loss Hearing loss, sensorineural, bilateral human_phenotype HP:0008619 Bilateral sensorineural hearing impairment HP:0008619 A form of sensorineural hearing impairment that affects both ears. https://orcid.org/0000-0002-0736-9199 true HP:0008620 true HP:0008621 true HP:0008622 true HP:0008623 true HP:0008624 A severe form of sensorineural hearing impairment. HP:0008534 HP:0008574 UMLS:C4021533 Severe sensorineural deafness Severe sensorineural hearing loss human_phenotype HP:0008625 Severe sensorineural hearing impairment HP:0008625 A severe form of sensorineural hearing impairment. https://orcid.org/0000-0002-0736-9199 Severe sensorineural deafness https://orcid.org/0000-0001-6908-9849 true HP:0008626 true HP:0008627 An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. UMLS:C4021532 Stapedial abnormalities human_phenotype HP:0008628 Abnormal stapes morphology HP:0008628 An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. https://orcid.org/0000-0002-0736-9199 Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. HP:0000361 SNOMEDCT_US:232322006 UMLS:C0751559 human_phenotype HP:0008629 Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such patulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus. Pulsatile tinnitus HP:0008629 Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. PMID:23885280 true HP:0008630 A developmental anomaly of the ureter. UMLS:C4024653 human_phenotype HP:0008631 If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. Ureteral dysgenesis HP:0008631 A developmental anomaly of the ureter. https://orcid.org/0000-0002-0736-9199 true HP:0008632 Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). UMLS:C4024652 Absent gonadal tissue Gonadal agenesis human_phenotype HP:0008633 Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous. Agonadism HP:0008633 true HP:0008634 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. UMLS:C4021531 Hypertrophic urinary bladder Hypertrophy of the urinary bladder wall Urinary bladder wall thickening human_phenotype HP:0008635 Urinary bladder wall hypertrophy HP:0008635 Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature. PMID:11002301 https://orcid.org/0000-0002-0736-9199 HP:0100820 human_phenotype HP:0008636 obsolete Lobular glomerulopathy true HP:0008636 true HP:0008637 true HP:0008638 UMLS:C0239761 Underdeveloped gonad human_phenotype HP:0008639 Gonadal hypoplasia HP:0008639 Underdeveloped gonad https://orcid.org/0000-0001-5208-3432 UMLS:C4024650 human_phenotype HP:0008640 Congenital macroorchidism HP:0008640 true HP:0008641 true HP:0008642 Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. UMLS:C2675558 human_phenotype HP:0008643 Nephroblastomatosis HP:0008643 Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. PMID:10707720 https://orcid.org/0000-0002-0736-9199 true HP:0008644 true HP:0008645 true HP:0008646 UMLS:C4024649 human_phenotype HP:0008647 Pubertal developmental failure in females HP:0008647 HP:0100627 human_phenotype HP:0008648 obsolete Anteriorly displaced urethral meatus true HP:0008648 true HP:0008649 true HP:0008650 UMLS:C4024647 human_phenotype HP:0008651 Uric acid urolithiasis independent of gout HP:0008651 Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. UMLS:C1868524 Impotence due to autonomic dysfunction human_phenotype HP:0008652 Autonomic erectile dysfunction HP:0008652 Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. https://orcid.org/0000-0002-0736-9199 A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. SNOMEDCT_US:236398000 UMLS:C0403416 human_phenotype HP:0008653 Crescentic glomerulonephritis HP:0008653 A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. HPO_CONTRIBUTOR:Eurenomics_ewuehl true HP:0008654 Aplasia or developmental hypoplasia of the fallopian tube. UMLS:C4020791 UMLS:C4024646 Absent/small fallopian tube Absent/underdeveloped fallopian tube human_phenotype Absent or rudimentary fallopian tubes HP:0008655 Aplasia/Hypoplasia of the fallopian tube HP:0008655 Aplasia or developmental hypoplasia of the fallopian tube. https://orcid.org/0000-0002-0736-9199 Absent/small fallopian tube https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped fallopian tube https://orcid.org/0000-0001-5208-3432 UMLS:C4024645 human_phenotype HP:0008656 Incomplete male pseudohermaphroditism HP:0008656 true HP:0008657 true HP:0008658 The presence of many cysts in the medulla of the kidney. HP:0005569 HP:0100956 SNOMEDCT_US:204958008 UMLS:C0687120 UMLS:C4020790 UMLS:C4024644 human_phenotype Medullary cystic disease Medullary sponge kidney disease HP:0008659 This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. Multiple small medullary renal cysts HP:0008659 The presence of many cysts in the medulla of the kidney. HPO_CONTRIBUTOR:Eurenomics_ewuehl A developmental defect characterized by absence or poor development of proximal renal tubules. SNOMEDCT_US:702397002 UMLS:C0266313 Renal tubular dysgenesis human_phenotype HP:0008660 Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. Renotubular dysgenesis HP:0008660 A developmental defect characterized by absence or poor development of proximal renal tubules. https://orcid.org/0000-0002-0736-9199 Abnormal narrowing of the urethra. SNOMEDCT_US:236647003 SNOMEDCT_US:76618002 UMLS:C0041974 Narrowing of the urethra human_phenotype HP:0008661 Urethral stenosis HP:0008661 Abnormal narrowing of the urethra. https://orcid.org/0000-0002-0736-9199 Narrowing of the urethra https://orcid.org/0000-0001-5208-3432 true HP:0008662 A sarcoma of the kidney. NCIT:C3158 SNOMEDCT_US:254918001 UMLS:C0346251 human_phenotype HP:0008663 Renal sarcoma HP:0008663 A sarcoma of the kidney. https://orcid.org/0000-0002-0736-9199 UMLS:C4024643 human_phenotype HP:0008664 Urethral sphincter sclerosis HP:0008664 Hypertrophy of the clitoris. HP:0000057 HP:0008728 SNOMEDCT_US:80212005 UMLS:C0156394 Clitoral enlargement Clitoromegaly Enlarged clitoris Hypertrophic clitoris Prominent clitoris human_phenotype HP:0008665 Increased size of the clitoris. Clitoral hypertrophy HP:0008665 Hypertrophy of the clitoris. https://orcid.org/0000-0002-0736-9199 Enlarged clitoris https://orcid.org/0000-0002-6548-5200 UMLS:C4024642 human_phenotype HP:0008666 Impaired histidine renal tubular absorption HP:0008666 true HP:0008667 Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. UMLS:C0018054 46,xy gonadal dysgenesis human_phenotype HP:0008668 Gonadal dysgenesis, male HP:0008668 Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. https://orcid.org/0009-0006-4530-3154 Incomplete maturation or aberrant formation of the male gametes. SNOMEDCT_US:4529005 UMLS:C0520933 UMLS:C4020789 Impaired spermatogenesis human_phenotype Abnormal sperm development HP:0008669 Abnormal spermatogenesis HP:0008669 Incomplete maturation or aberrant formation of the male gametes. MP:0001156 https://orcid.org/0000-0002-0736-9199 Abnormal sperm development UMLS:C0750088 human_phenotype HP:0008670 Partial vaginal septum HP:0008670 true HP:0008671 The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. HP:0008700 HP:0008725 SNOMEDCT_US:444717006 UMLS:C1833683 UMLS:C4280806 Ca oxalate kidney stone Ca oxalate nephrolithiasis Ca oxalate urolithiasis Ca2+ oxalate kidney stone Ca2+ oxalate nephrolithiasis Ca2+ oxalate urolithiasis Calcium oxalate kidney stones Oxalate nephrolithiasis human_phenotype Calcium oxalate urolithiasis HP:0008672 Calcium oxalate nephrolithiasis HP:0008672 The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. https://orcid.org/0000-0002-0736-9199 Ca oxalate kidney stone Ca oxalate nephrolithiasis Ca oxalate urolithiasis Ca2+ oxalate kidney stone Ca2+ oxalate nephrolithiasis Ca2+ oxalate urolithiasis Calcium oxalate kidney stones https://orcid.org/0000-0001-6908-9849 true HP:0008673 true HP:0008674 UMLS:C4024641 Enlarged ovaries with cysts human_phenotype HP:0008675 Enlarged polycystic ovaries HP:0008675 Enlarged ovaries with cysts https://orcid.org/0000-0002-6548-5200 A developmental disturbance with extreme ureteral dilatation. SNOMEDCT_US:718485003 SNOMEDCT_US:95576001 UMLS:C0266324 Congenital megaloureter Primary megaloureter Primary megaureter human_phenotype HP:0008676 The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. Congenital megaureter HP:0008676 A developmental disturbance with extreme ureteral dilatation. https://orcid.org/0000-0002-0736-9199 Nephrotic syndrome with onset within the first three months of life. SNOMEDCT_US:48796009 UMLS:C3501848 Congenital nephrosis human_phenotype HP:0008677 Congenital nephrotic syndrome HP:0008677 Nephrotic syndrome with onset within the first three months of life. HPO_CONTRIBUTOR:Eurenomics_fschaefer Absence or underdevelopment of the kidney. HP:0004744 HP:0008701 UMLS:C1857453 Absent/small kidney Absent/underdeveloped kidney Renal agenesis/hypoplasia Renal aplasia/hypoplasia human_phenotype HP:0008678 Renal hypoplasia/aplasia HP:0008678 Absence or underdevelopment of the kidney. https://orcid.org/0000-0002-0736-9199 Absent/small kidney https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped kidney https://orcid.org/0000-0001-5208-3432 true HP:0008679 true HP:0008680 true HP:0008681 Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). SNOMEDCT_US:35455006 UMLS:C0022672 Acute tubular necrosis Renal tubular necrosis human_phenotype HP:0008682 Renal tubular epithelial necrosis is a histomorphological definition that corresponds to the clinical term of acture tubular necrosis. Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. Renal tubular epithelial necrosis HP:0008682 Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). https://orcid.org/0000-0002-0736-9199 Increase in size of the folds of skin between the outer labia. HP:0008662 HP:0008694 UMLS:C1849358 Hypertrophic labia minora Labia minora hypertrophy human_phenotype HP:0008683 Enlarged labia minora HP:0008683 Increase in size of the folds of skin between the outer labia. https://orcid.org/0000-0002-0736-9199 Absence or developmental hypoplasia of the uterus. UMLS:C4024640 Absent/small uterus Absent/underdeveloped uterus human_phenotype HP:0008684 Aplasia/hypoplasia of the uterus HP:0008684 Absence or developmental hypoplasia of the uterus. https://orcid.org/0000-0002-0736-9199 Absent/small uterus https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped uterus https://orcid.org/0000-0001-5208-3432 true HP:0008685 true HP:0008686 UMLS:C1844923 Hypoplastic prostate Underdeveloped prostate human_phenotype HP:0008687 Hypoplasia of the prostate HP:0008687 Underdeveloped prostate https://orcid.org/0000-0001-6908-9849 true HP:0008688 Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. HP:0008686 SNOMEDCT_US:268228006 UMLS:C0431663 Cryptorchidism, bilateral human_phenotype HP:0008689 Bilateral cryptorchidism HP:0008689 Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. https://orcid.org/0000-0002-0736-9199 true HP:0008690 Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. UMLS:C4024639 human_phenotype HP:0008691 Solitary bladder diverticulum HP:0008691 Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder. HPO_CONTRIBUTOR:Eurenomics_fschaefer true HP:0008692 true HP:0008693 HP:0008683 human_phenotype HP:0008694 obsolete Hypertrophic labia minora true HP:0008694 UMLS:C4024638 Transient nephrosis human_phenotype HP:0008695 Transient nephrotic syndrome HP:0008695 Transient nephrosis https://orcid.org/0000-0001-6908-9849 A disordered proliferation of mature tissues that are native to the kidneys. UMLS:C1840396 human_phenotype HP:0008696 Renal hamartoma HP:0008696 A disordered proliferation of mature tissues that are native to the kidneys. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-9113-2978 Developmental hypoplasia of the fallopian tube. UMLS:C1968706 Rudimentary fallopian tubes Underdeveloped fallopian tube human_phenotype HP:0008697 Hypoplasia of the fallopian tube HP:0008697 Developmental hypoplasia of the fallopian tube. https://orcid.org/0000-0002-0736-9199 Underdeveloped fallopian tube https://orcid.org/0000-0001-6908-9849 true HP:0008698 true HP:0008699 true HP:0008700 true HP:0008701 UMLS:C4024637 human_phenotype HP:0008702 Absent internal genitalia HP:0008702 Deposition of calcium salts in gonadal tissue. UMLS:C4024636 human_phenotype HP:0008703 Gonadal calcification HP:0008703 Deposition of calcium salts in gonadal tissue. https://orcid.org/0000-0002-0736-9199 true HP:0008704 UMLS:C4024635 human_phenotype HP:0008705 Ureteral triplication HP:0008705 UMLS:C4024634 human_phenotype HP:0008706 Distal urethral duplication HP:0008706 Congenital absence of the scrotum. SNOMEDCT_US:249233008 UMLS:C0426320 Absent scrotum human_phenotype HP:0008707 Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. Absent scrotum HP:0008707 Congenital absence of the scrotum. https://orcid.org/0000-0002-0736-9199 Absent scrotum A congenital condition of the external male genitalia in which the shaft of the penis fails to fully develop. UMLS:C1837379 human_phenotype HP:0008708 This feature is based on a description in PMID:15273283 for Sudden infant death with dysgenesis of the testes syndrome (OMIM:608800). Partial development of the penile shaft HP:0008708 true HP:0008709 true HP:0008710 The presence of non-malignant hyperplasia of the prostate. SNOMEDCT_US:266569009 UMLS:C0005001 UMLS:C1704272 Benign prostatic hypertrophy human_phenotype HP:0008711 Benign prostatic hyperplasia HP:0008711 The presence of non-malignant hyperplasia of the prostate. https://orcid.org/0000-0002-0736-9199 true HP:0008712 true HP:0008713 UMLS:C4024633 human_phenotype HP:0008714 Ureterovesical stenosis HP:0008714 HP:0008733 human_phenotype HP:0008715 obsolete Testicular dysgenesis true HP:0008715 The presence of a fistula between the vagina and the urethra. SNOMEDCT_US:50477003 UMLS:C0269133 Urethrovaginal fistulae human_phenotype HP:0008716 Urethrovaginal fistula HP:0008716 The presence of a fistula between the vagina and the urethra. https://orcid.org/0000-0002-0736-9199 A unilateral form of atrophy of the kidney. SNOMEDCT_US:424998002 UMLS:C1827184 Kidney degeneration on one side Unilateral kidney wasting human_phenotype HP:0008717 Unilateral renal atrophy HP:0008717 A unilateral form of atrophy of the kidney. https://orcid.org/0000-0002-0736-9199 Kidney degeneration on one side https://orcid.org/0000-0001-5208-3432 Unilateral kidney wasting https://orcid.org/0000-0001-5208-3432 A unilateral form of developmental dysplasia of the kidney. SNOMEDCT_US:204951002 UMLS:C0431697 human_phenotype HP:0008718 Unilateral renal dysplasia HP:0008718 A unilateral form of developmental dysplasia of the kidney. https://orcid.org/0000-0002-0736-9199 true HP:0008719 SNOMEDCT_US:370997001 SNOMEDCT_US:48723006 UMLS:C1384582 human_phenotype HP:0008720 Primary testicular failure HP:0008720 true HP:0008721 The presence of a diverticulum (sac or pouch) in the wall of the urethra. SNOMEDCT_US:90531003 UMLS:C0152443 human_phenotype HP:0008722 Urethral diverticulum HP:0008722 The presence of a diverticulum (sac or pouch) in the wall of the urethra. https://orcid.org/0000-0002-0736-9199 Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. UMLS:C4020788 UMLS:C4024632 human_phenotype Xy female gonadal dysgenesis HP:0008723 Very bad term - try to get rid of it later. Gonadal dysgenesis with female appearance, male HP:0008723 Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. https://orcid.org/0009-0006-4530-3154 Developmental hypoplasia of the ovary. SNOMEDCT_US:93279005 UMLS:C0685840 UMLS:C1835452 Hypoplastic ovary Underdeveloped ovary human_phenotype HP:0008724 Hypoplasia of the ovary HP:0008724 Developmental hypoplasia of the ovary. https://orcid.org/0000-0002-0736-9199 Underdeveloped ovary https://orcid.org/0000-0001-5208-3432 true HP:0008725 Developmental hypoplasia of the vagina. HP:0011938 SNOMEDCT_US:253836009 UMLS:C0345309 UMLS:C1442988 Hypoplastic vagina Rudimentary vagina Underdeveloped vagina human_phenotype HP:0008726 Hypoplasia of the vagina HP:0008726 Developmental hypoplasia of the vagina. https://orcid.org/0000-0002-0736-9199 Underdeveloped vagina https://orcid.org/0000-0001-5208-3432 true HP:0008727 true HP:0008728 UMLS:C1849575 Absent vaginal lips human_phenotype HP:0008729 Absence of labia majora HP:0008729 Absent vaginal lips https://orcid.org/0000-0001-5208-3432 The presence of female external genitalia in a person with a male karyotype. HP:0008719 UMLS:C1848178 Males with female external genitalia human_phenotype HP:0008730 Female external genitalia in individual with 46,XY karyotype HP:0008730 The presence of female external genitalia in a person with a male karyotype. https://orcid.org/0000-0002-0736-9199 true HP:0008731 Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. UMLS:C4024631 human_phenotype HP:0008732 Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal. Renal hypophosphatemia HP:0008732 Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. PMID:22392950 PMID:30180816 A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. HP:0008715 UMLS:C1837380 Dysplastic testes human_phenotype Dysgenetic testis Testicular dysgenesis HP:0008733 Dysplastic testis HP:0008733 A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure. PMID:27469328 Dysplastic testes Reduced volume of the testicle (the male gonad). HP:0000043 SNOMEDCT_US:276411001 UMLS:C0241355 Decreased testicular size Decreased testicular volume Hypoplastic testes Reduced testicular volume Small testes Small testis Testicular hypoplasia human_phenotype HP:0008734 Decreased testicular size HP:0008734 Reduced volume of the testicle (the male gonad). PMID:22024975 https://orcid.org/0000-0002-0736-9199 Decreased testicular size Small testes Small testis true HP:0008735 HP:0008632 SNOMEDCT_US:34911001 UMLS:C0266435 Underdeveloped penis human_phenotype HP:0008736 Hypoplasia of penis HP:0008736 Underdeveloped penis true HP:0008737 The presence of a partially duplicated kidney. UMLS:C4024630 Partially duplicated kidney human_phenotype HP:0008738 Partially duplicated kidney HP:0008738 The presence of a partially duplicated kidney. https://orcid.org/0000-0002-0736-9199 Partially duplicated kidney UMLS:C1835380 human_phenotype HP:0008739 Labial pseudohypertrophy HP:0008739 The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. HP:0008698 UMLS:C1841680 Vertical vaginal septum human_phenotype HP:0008740 Longitudinal vaginal septum HP:0008740 The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. https://orcid.org/0000-0002-0736-9199 true HP:0008741 UMLS:C4024629 human_phenotype HP:0008742 Prominent prostate median bar HP:0008742 A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft. SNOMEDCT_US:429641000124109 UMLS:C1394030 UMLS:C4020787 human_phenotype Subcoronal hypospadias HP:0008743 Coronal hypospadias HP:0008743 A mild form of hypospadias in which the urethra opens just under the corona glandis, that is, where the head of the penis meets the shaft. PMID:28190103 https://orcid.org/0000-0002-0736-9199 An abnormality of the aryepiglottic fold. UMLS:C1849357 Abnormal aryepiglottic folds Abnormality of the aryepiglottic fold human_phenotype HP:0008744 The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. Abnormal aryepiglottic fold morphology HP:0008744 An abnormality of the aryepiglottic fold. https://orcid.org/0000-0002-0736-9199 true HP:0008745 true HP:0008746 Ossification affecting the set of cartilages of larynx. UMLS:C1855622 human_phenotype HP:0008747 This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). Cartilaginous ossification of larynx HP:0008747 Ossification affecting the set of cartilages of larynx. https://orcid.org/0000-0002-0736-9199 true HP:0008748 Underdevelopment of the larynx. HP:0005935 SNOMEDCT_US:253736003 UMLS:C0431527 Hypoplastic larynx human_phenotype HP:0008749 Laryngeal hypoplasia HP:0008749 Underdevelopment of the larynx. https://orcid.org/0000-0002-0736-9199 Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present. SNOMEDCT_US:64981002 UMLS:C0265756 human_phenotype HP:0008750 Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. Laryngeal atresia HP:0008750 Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present. PMID:10517457 PMID:17715321 https://orcid.org/0000-0002-0736-9199 Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. SNOMEDCT_US:232461002 UMLS:C1840311 Laryngotracheal cleft Laryngotracheoesophageal cleft i human_phenotype HP:0008751 Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. Laryngeal cleft HP:0008751 Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus. PMID:17178945 https://orcid.org/0000-0002-0736-9199 A malformation of the laryngeal cartilage. HP:0008375 UMLS:C4021530 Vocal impairment, severe, due to laryngeal cartilage abnormalities human_phenotype HP:0008752 Laryngeal cartilage malformation HP:0008752 A malformation of the laryngeal cartilage. https://orcid.org/0000-0002-0736-9199 Absence of the epiglottis. UMLS:C4024628 Absent epiglottis human_phenotype HP:0008753 Aplasia of the epiglottis HP:0008753 Absence of the epiglottis. https://orcid.org/0000-0002-0736-9199 Absent epiglottis https://orcid.org/0000-0001-5208-3432 Calcification (abnormal deposits of calcium) in the laryngeal tissues. HP:0008748 UMLS:C1859158 Laryngeal calcifications human_phenotype HP:0008754 Laryngeal calcification HP:0008754 Calcification (abnormal deposits of calcium) in the laryngeal tissues. https://orcid.org/0000-0002-0736-9199 Laryngeal calcifications SNOMEDCT_US:308232009 UMLS:C0585984 human_phenotype HP:0008755 Laryngotracheomalacia HP:0008755 Bowing (abnormal curvature) of the vocal folds. SNOMEDCT_US:232448002 UMLS:C0396064 human_phenotype HP:0008756 Bowing of the vocal cords HP:0008756 Bowing (abnormal curvature) of the vocal folds. https://orcid.org/0000-0002-0736-9199 A loss of the ability to move the vocal fold on one side. UMLS:C0751575 Unilateral paralysis of the vocal cord human_phenotype HP:0008757 Unilateral vocal cord paralysis HP:0008757 A loss of the ability to move the vocal fold on one side. https://orcid.org/0000-0002-0736-9199 true HP:0008758 true HP:0008759 Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity. SNOMEDCT_US:248004009 UMLS:C0424323 Violent behavior Violent behaviour human_phenotype HP:0008760 Violent behavior HP:0008760 Violent behavior Violent behaviour true HP:0008761 UMLS:C1969697 Repetitive compulsive behavior Repetitive compulsive behaviour human_phenotype HP:0008762 Repetitive compulsive behavior HP:0008762 Repetitive compulsive behavior Repetitive compulsive behaviour Lack of intentional participation in interactions with another person. UMLS:C1849683 No social interaction human_phenotype HP:0008763 No social interaction HP:0008763 No social interaction true HP:0008764 Perception of sounds without auditory stimulus. HP:0000714 SNOMEDCT_US:45150006 UMLS:C0233762 Hallucinations of sound Hearing sounds human_phenotype HP:0008765 Auditory hallucination HP:0008765 Hallucinations of sound https://orcid.org/0000-0001-5208-3432 Hearing sounds true HP:0008766 Uncontrolled movements result in tissue damage to the tongue and lips. UMLS:C1860219 Self-mutilation of tongue and lips due to involuntary movements human_phenotype HP:0008767 Self-mutilation of tongue and lips due to involuntary movements HP:0008767 Self-mutilation of tongue and lips due to involuntary movements A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors. SNOMEDCT_US:248099006 UMLS:C0474420 Inappropriate sexual behavior Inappropriate sexual behaviour human_phenotype HP:0008768 Abnormal sexual behavior HP:0008768 Inappropriate sexual behavior Inappropriate sexual behaviour true HP:0008769 The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. HP:0008761 UMLS:C1834433 Obsessive-compulsive trait Obsessive-compulsive traits human_phenotype HP:0008770 Obsessions have been defined as intrusive and unwanted thoughts that are subjectively experienced as unacceptable. Obsessive-compulsive trait HP:0008770 The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. PMID:35230863 https://orcid.org/0000-0002-0736-9199 Obsessive-compulsive trait Obsessive-compulsive traits The presence of aplasia or developmental hypoplasia of the ear. 2008-04-04T05:44:00Z UMLS:C4024627 Absent/small ear Absent/underdeveloped ear human_phenotype HP:0008771 Aplasia/Hypoplasia of the ear HP:0008771 The presence of aplasia or developmental hypoplasia of the ear. https://orcid.org/0000-0002-0736-9199 Absent/small ear https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ear https://orcid.org/0000-0001-5208-3432 The presence of aplasia or developmental hypoplasia of all or part of the external ear. 2008-04-04T05:45:00Z UMLS:C4024626 Absent/small external ear Absent/underdeveloped external ear human_phenotype HP:0008772 Aplasia/Hypoplasia of the external ear HP:0008772 The presence of aplasia or developmental hypoplasia of all or part of the external ear. https://orcid.org/0000-0002-0736-9199 Absent/small external ear https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped external ear https://orcid.org/0000-0001-5208-3432 Aplasia or developmental hypoplasia of all or part of the middle ear. 2008-04-04T05:47:00Z HP:0008533 HP:0008548 UMLS:C4021529 Absent/small middle ear Absent/underdeveloped middle ear Hypoplastic/aplastic middle ear structures Middle ear hypoplasia/aplasia human_phenotype HP:0008773 Aplasia/Hypoplasia of the middle ear HP:0008773 Aplasia or developmental hypoplasia of all or part of the middle ear. https://orcid.org/0000-0002-0736-9199 Absent/small middle ear https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle ear https://orcid.org/0000-0001-5208-3432 Aplasia or developmental hypoplasia of the inner ear. 2008-04-04T05:48:00Z UMLS:C4024625 Absent/small inner ear Absent/underdeveloped inner ear human_phenotype HP:0008774 Aplasia/Hypoplasia of the inner ear HP:0008774 Aplasia or developmental hypoplasia of the inner ear. https://orcid.org/0000-0002-0736-9199 Absent/small inner ear https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped inner ear https://orcid.org/0000-0001-5208-3432 An abnormality of the prostate. 2008-04-04T06:01:00Z UMLS:C0747987 Abnormality of the prostate human_phenotype HP:0008775 Abnormal prostate morphology HP:0008775 An abnormality of the prostate. https://orcid.org/0000-0002-0736-9199 Abnormality of the prostate Any structural abnormality of the renal artery. 2008-04-04T06:13:00Z UMLS:C4024624 Abnormal kidney artery Abnormality of the renal artery human_phenotype HP:0008776 Abnormal renal artery morphology HP:0008776 Any structural abnormality of the renal artery. https://orcid.org/0000-0002-0736-9199 Abnormal kidney artery https://orcid.org/0000-0001-5208-3432 An abnormality of the vocal cord. 2008-04-04T06:18:00Z UMLS:C0262665 Abnormality of the vocal cords human_phenotype HP:0008777 The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. Abnormal vocal cord morphology HP:0008777 An abnormality of the vocal cord. https://orcid.org/0000-0002-0736-9199 Abnormality of the vocal cords true HP:0008778 true HP:0008779 SNOMEDCT_US:10155006 UMLS:C0158713 human_phenotype HP:0008780 Congenital bilateral hip dislocation HP:0008780 true HP:0008781 true HP:0008782 Increased width of the proximal part of the shaft (metaphysis) of the femur. HP:0008790 UMLS:C4024623 Wide metaphysis of innermost thighbone human_phenotype HP:0008783 Wide proximal femoral metaphysis HP:0008783 Increased width of the proximal part of the shaft (metaphysis) of the femur. https://orcid.org/0000-0002-0736-9199 Wide metaphysis of innermost thighbone https://orcid.org/0000-0001-5208-3432 Abnormally wide morphology of the proximal epiphysis of the femur. UMLS:C4024622 Wide end part of innermost thighbone human_phenotype HP:0008784 Wide capital femoral epiphyses HP:0008784 Abnormally wide morphology of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Wide end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 Delayed maturation and calcification of the rami (branches) of the pubic bone. UMLS:C1865363 human_phenotype HP:0008785 Delayed ossification of pubic rami HP:0008785 Delayed maturation and calcification of the rami (branches) of the pubic bone. https://orcid.org/0000-0002-0736-9199 Irregularities of the iliac crest that produce the appearance of a lace border around it. HP:0008825 UMLS:C1857186 Irregular lacy iliac crest Lacy appearance of iliac crest human_phenotype HP:0008786 Iliac crest serration HP:0008786 Irregularities of the iliac crest that produce the appearance of a lace border around it. https://orcid.org/0000-0002-0736-9199 true HP:0008787 Delayed maturation and calcification of the pubic bone. HP:0008795 HP:0008827 UMLS:C1861528 UMLS:C1866710 UMLS:C4280411 Absent pubic ossification in infancy human_phenotype Delayed maturation of pubic bone Delayed mineralization of pubic bone HP:0008788 Delayed pubic bone ossification HP:0008788 Delayed maturation and calcification of the pubic bone. https://orcid.org/0000-0002-0736-9199 Delayed maturation of pubic bone https://orcid.org/0000-0001-5208-3432 Delayed mineralization of pubic bone A cone-shaped deformity of the proximal epiphysis of the femur. UMLS:C1846157 Cone-shaped end part of innermost thighbone Tear drop-shaped capital femoral epiphysis human_phenotype HP:0008789 Cone-shaped capital femoral epiphysis HP:0008789 A cone-shaped deformity of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of innermost thighbone https://orcid.org/0000-0001-5208-3432 true HP:0008790 true HP:0008791 true HP:0008792 true HP:0008793 A general term that describes a congenital defect in the iliac wing resulting from abnormal development. UMLS:C1837487 Dysplastic iliac wings human_phenotype HP:0008794 Dysplastic iliac wing HP:0008794 Dysplastic iliac wings true HP:0008795 An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing). HP:0003783 HP:0031070 UMLS:C1846339 Decreased femoral torsion Externally rotated hips human_phenotype HP:0008796 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range. Femoral retroversion HP:0008796 Externally rotated hips Developmental acceleration of ossification of the proximal epiphysis of the femur. UMLS:C4024621 human_phenotype HP:0008797 Early ossification of capital femoral epiphyses HP:0008797 Developmental acceleration of ossification of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. HP:0010457 UMLS:C4024620 Widened sacrosciatic notch Widening of the sacrosciatic notch human_phenotype HP:0008798 Widened greater sciatic notch HP:0008798 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. https://orcid.org/0000-0002-0736-9199 true HP:0008799 A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. UMLS:C1851542 Limited hip movement human_phenotype HP:0008800 Limited hip movement HP:0008800 A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. https://orcid.org/0000-0002-0736-9199 Limited hip movement Underdevelopment of the lesser trochanter. UMLS:C1840062 Lesser trochanter hypoplasia human_phenotype HP:0008801 Hypoplasia of the lesser trochanter HP:0008801 Underdevelopment of the lesser trochanter. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the femoral head. HP:0008831 UMLS:C1856920 Hypoplastic femoral head Small femoral heads Small head of thigh bone human_phenotype HP:0008802 Hypoplasia of the femoral head HP:0008802 Underdevelopment of the femoral head. https://orcid.org/0000-0002-0736-9199 Small head of thigh bone https://orcid.org/0000-0001-5208-3432 HP:0003375 human_phenotype HP:0008803 obsolete Narrow sacroiliac notch true HP:0008803 Increased width of the femoral head. UMLS:C4024619 Wide head of thigh bone human_phenotype HP:0008804 Broad femoral head HP:0008804 Increased width of the femoral head. https://orcid.org/0000-0002-0736-9199 Wide head of thigh bone https://orcid.org/0000-0001-5208-3432 true HP:0008805 true HP:0008806 A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. HP:0008799 UMLS:C1328407 Dysplastic acetabulae human_phenotype Decreased femoral head coverage by acetabulum HP:0008807 Acetabular dysplasia can lead to hip pain and early-onset hip osteoarthritis. Acetabular dysplasia HP:0008807 A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain. PMID:23764788 PMID:34377520 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-6670-9157 Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). HP:0008778 UMLS:C1969680 High iliac wings Narrow, high iliac wings human_phenotype HP:0008808 High iliac wing HP:0008808 Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). https://orcid.org/0000-0002-0736-9199 High iliac wings true HP:0008809 true HP:0008810 true HP:0008811 An abnormally flattened femoral head. UMLS:C1860601 Flat head of thigh bone human_phenotype Flattened femoral heads HP:0008812 Flattened femoral head HP:0008812 An abnormally flattened femoral head. https://orcid.org/0000-0002-0736-9199 Flat head of thigh bone https://orcid.org/0000-0001-5208-3432 Flattened femoral heads https://orcid.org/0000-0002-5316-1399 true HP:0008813 true HP:0008814 true HP:0008815 true HP:0008816 A developmental defect characterized by lack of development of the pubis bone. UMLS:C1848660 Absent pubic bones Aplastic pubic bones human_phenotype HP:0008817 Aplastic pubic bone HP:0008817 Absent pubic bones https://orcid.org/0000-0001-5208-3432 Aplastic pubic bones Increased size of the ilium ala. UMLS:C4024618 Large iliac wings human_phenotype HP:0008818 Large iliac wing HP:0008818 Increased size of the ilium ala. https://orcid.org/0000-0002-0736-9199 Large iliac wings An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). UMLS:C1863739 Narrow neck of thigh bone human_phenotype Narrow femoral necks HP:0008819 Narrow femoral neck HP:0008819 An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). https://orcid.org/0000-0002-0736-9199 Narrow neck of thigh bone https://orcid.org/0000-0001-5208-3432 Narrow femoral necks https://orcid.org/0000-0002-5316-1399 Lack of ossification of the proximal epiphysis of the femur. UMLS:C1968686 Absent ossification of femoral capital epiphyses human_phenotype HP:0008820 The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. Absent ossification of capital femoral epiphysis HP:0008820 Lack of ossification of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 UMLS:C1837078 human_phenotype HP:0008821 Hypoplastic inferior ilia HP:0008821 Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. UMLS:C4024617 Hypoplastic ischiopubic rami human_phenotype HP:0008822 Hypoplastic ischiopubic ramus HP:0008822 Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. https://orcid.org/0000-0002-0736-9199 Hypoplastic ischiopubic rami Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus). UMLS:C1853573 Hypoplastic inferior pubic rami human_phenotype HP:0008823 The pubis is the anterior part of the hip bone and forms the anterior and inferior borders of the obturator foramen (the obturator foramen is the opening between the ischium and pubic bones). It is divisible into a body, a superior and an inferior ramus. Inferior pubic ramus hypoplasia HP:0008823 Underdevelopment of the body of ilium. HP:0005740 UMLS:C1849034 Hypoplastic iliac bodies Small iliac bodies human_phenotype HP:0008824 Hypoplastic iliac body HP:0008824 Underdevelopment of the body of ilium. https://orcid.org/0000-0002-0736-9199 Hypoplastic iliac bodies https://orcid.org/0000-0002-5316-1399 Small iliac bodies https://orcid.org/0000-0002-5316-1399 true HP:0008825 HP:0002827 human_phenotype HP:0008826 obsolete Dislocation of the femoral head true HP:0008826 true HP:0008827 Developmental delay of ossification of the proximal epiphysis of the femur. UMLS:C1855222 Delayed ossification of the proximal femoral epiphysis Delayed ossification proximal femoral epiphyses human_phenotype HP:0008828 The proximal femoral epiphyseal ossification center normally appears at about age 6 months. Delayed proximal femoral epiphyseal ossification HP:0008828 Developmental delay of ossification of the proximal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Delayed ossification of the femoral head. UMLS:C1846446 UMLS:C4280410 human_phenotype Delayed maturation of the head of the thigh bone HP:0008829 Delayed femoral head ossification HP:0008829 Delayed ossification of the femoral head. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the head of the thigh bone https://orcid.org/0000-0001-5208-3432 Underdevelopment of a ramus (branch) of the pubic bone. UMLS:C1969176 Hypoplastic pubic rami human_phenotype HP:0008830 Hypoplastic pubic ramus HP:0008830 Hypoplastic pubic rami true HP:0008831 true HP:0008832 UMLS:C1834975 human_phenotype HP:0008833 Irregular acetabular roof HP:0008833 true HP:0008834 There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. UMLS:C1846447 human_phenotype HP:0008835 Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. Multicentric femoral head ossification HP:0008835 There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. https://orcid.org/0000-0002-0736-9199 true HP:0008836 true HP:0008837 UMLS:C1857243 Speckled calcifications in end part of innermost long bone of upper arm human_phenotype HP:0008838 Stippled calcification proximal humeral epiphyses HP:0008838 Speckled calcifications in end part of innermost long bone of upper arm https://orcid.org/0000-0001-5208-3432 Underdevelopment of the bony pelvis. HP:0003373 HP:0008816 UMLS:C3536734 Hypoplastic pelvic bones Small pelvis human_phenotype HP:0008839 Hypoplastic pelvis HP:0008839 Underdevelopment of the bony pelvis. https://orcid.org/0000-0002-0736-9199 true HP:0008840 true HP:0008841 true HP:0008842 HP:0008809 SNOMEDCT_US:239872002 UMLS:C0029410 Osteoarthritis of hip human_phenotype HP:0008843 Hip osteoarthritis HP:0008843 true HP:0008844 A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). HP:0008896 HP:0008903 HP:0008910 UMLS:C1855274 Dwarfism, short limb mesomelic Mesomelic dwarfism Short stature, disproportionate mesomelic Short stature, mesomelic human_phenotype HP:0008845 Mesomelic short stature HP:0008845 A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). https://orcid.org/0000-0002-0736-9199 Mesomelic dwarfism Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. HP:0008899 HP:0008906 UMLS:C1855843 Intrauterine growth retardation, severe Severe prenatal growth deficiency human_phenotype HP:0008846 Severe intrauterine growth retardation HP:0008846 Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. https://orcid.org/0000-0002-0736-9199 Severe prenatal growth deficiency true HP:0008847 A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. HP:0008891 UMLS:C1861519 Moderate short stature human_phenotype Short stature, moderate HP:0008848 Moderately short stature HP:0008848 A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. https://orcid.org/0000-0002-6410-0882 Moderate short stature Short stature, moderate https://orcid.org/0000-0002-5316-1399 true HP:0008849 Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. HP:0001521 HP:0008854 HP:0008911 HP:0008932 UMLS:C1857641 Marked growth retardation Severe growth delay in children Severe postnatal growth deficiency Severe postnatal growth failure human_phenotype HP:0008850 Severe postnatal growth retardation HP:0008850 Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. https://orcid.org/0000-0002-6410-0882 Marked growth retardation Severe growth delay in children https://orcid.org/0000-0001-5208-3432 Severe postnatal growth failure true HP:0008851 true HP:0008852 true HP:0008853 true HP:0008854 A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. UMLS:C4024616 Moderate growth delay in children human_phenotype HP:0008855 Moderate postnatal growth retardation HP:0008855 A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. https://orcid.org/0000-0002-6410-0882 Moderate growth delay in children https://orcid.org/0000-0001-5208-3432 true HP:0008856 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. UMLS:C3149908 Short-trunk dwarfism identifiable at birth human_phenotype HP:0008857 Neonatal short-trunk short stature HP:0008857 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. https://orcid.org/0000-0002-0736-9199 true HP:0008858 true HP:0008859 true HP:0008860 true HP:0008861 true HP:0008862 true HP:0008863 true HP:0008864 true HP:0008865 Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. UMLS:C1832323 Faltering weight secondary to recurrent infections Weight faltering secondary to recurrent infections human_phenotype HP:0008866 Failure to thrive secondary to recurrent infections HP:0008866 Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. https://en.wikipedia.org/wiki/Failure_to_thrive Faltering weight secondary to recurrent infections https://orcid.org/0000-0001-5208-3432 Weight faltering secondary to recurrent infections https://orcid.org/0000-0001-5208-3432 true HP:0008867 true HP:0008868 true HP:0008869 true HP:0008870 true HP:0008871 Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. HP:0002016 HP:0002022 HP:0002568 UMLS:C2674608 human_phenotype HP:0008872 Feeding difficulties in infancy HP:0008872 Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. https://orcid.org/0000-0002-0736-9199 A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. HP:0001523 HP:0003505 HP:0003509 HP:0008858 HP:0008869 HP:0008875 HP:0008880 HP:0008881 HP:0008889 HP:0008912 HP:0008914 HP:0008928 UMLS:C1849937 Brachymelic dwarfism Disproportionate short limb dwarfism Dwarfism, short-limbed Micromelic dwarfism Short limb dwarfism, disproportionate Short stature, disproportionate short limb Short stature, disproportionate short-limb Short-limb dwarfism Short-limbed dwarfism human_phenotype Short limb dwarfism HP:0008873 A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionately affected. Note that brachymelia is a general term referring to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). Disproportionate short-limb short stature HP:0008873 A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. https://orcid.org/0000-0002-0736-9199 Short limb dwarfism, disproportionate Short-limbed dwarfism Short limb dwarfism https://orcid.org/0000-0002-5316-1399 true HP:0008874 true HP:0008875 true HP:0008876 true HP:0008877 true HP:0008878 true HP:0008879 true HP:0008880 true HP:0008881 true HP:0008882 Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. HP:0008861 UMLS:C1840006 Mild prenatal growth deficiency human_phenotype HP:0008883 Mild intrauterine growth retardation HP:0008883 Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. https://orcid.org/0000-0002-6410-0882 true HP:0008884 true HP:0008885 true HP:0008886 A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual. HP:0008938 UMLS:C4024615 Loss of fat tissue human_phenotype HP:0008887 Adipose tissue loss HP:0008887 A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual. https://orcid.org/0000-0002-0736-9199 Loss of fat tissue https://orcid.org/0000-0001-5208-3432 true HP:0008888 true HP:0008889 UMLS:C1860105 human_phenotype HP:0008890 Severe short-limb dwarfism HP:0008890 true HP:0008891 true HP:0008892 true HP:0008893 true HP:0008894 true HP:0008895 true HP:0008896 Slow or limited growth after birth. HP:0008844 HP:0008865 HP:0008868 HP:0008901 HP:0008918 UMLS:C1859778 Growth delay as children Growth retardation as children Postnatal growth deceleration Postnatal growth deficiency Postnatal growth failure human_phenotype HP:0008897 Postnatal growth retardation HP:0008897 Slow or limited growth after birth. https://orcid.org/0000-0002-6410-0882 Growth delay as children https://orcid.org/0000-0001-5208-3432 true HP:0008898 true HP:0008899 true HP:0008900 true HP:0008901 true HP:0008902 true HP:0008903 true HP:0008904 Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). HP:0002968 HP:0003520 HP:0008852 HP:0008877 UMLS:C1866730 Disproportionately short upper portion of limb Rhizomelic dwarfism Rhizomelic limb shortening Rhizomelic short limbs Rhizomelic short stature Rhizomelic shortening Short stature, rhizomelic Symmetrical rhizomelic limb shortening human_phenotype HP:0008905 Rhizomelia HP:0008905 Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). https://orcid.org/0000-0002-0736-9199 Disproportionately short upper portion of limb https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 true HP:0008906 true HP:0008907 true HP:0008908 HP:0003506 UMLS:C2674171 Lethal micromelic dwarfism Lethal short-limbed dwarfism human_phenotype HP:0008909 Lethal short-limbed short stature HP:0008909 true HP:0008910 true HP:0008911 true HP:0008912 true HP:0008913 true HP:0008914 Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. HP:0008874 UMLS:C1859846 Truncal obesity apparent in childhood human_phenotype HP:0008915 Childhood-onset truncal obesity HP:0008915 Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. https://orcid.org/0000-0002-0736-9199 true HP:0008916 true HP:0008917 true HP:0008918 true HP:0008919 true HP:0008920 A type of short-limbed dwarfism that is manifest beginning in the neonatal period. HP:0001536 HP:0008894 HP:0008902 HP:0008924 UMLS:C1850171 Dwarfism, neonatal short-limbed Neonatal short-limbed dwarfism Short limb dwarfism recognisable at birth Short limb dwarfism recognizable at birth Short-limb dwarfism identifiable at birth Short-limb dwarfism identifiable neonatally Short-limbed dwarfism identifiable at birth human_phenotype HP:0008921 Neonatal short-limb short stature HP:0008921 A type of short-limbed dwarfism that is manifest beginning in the neonatal period. https://orcid.org/0000-0002-0736-9199 Short limb dwarfism recognisable at birth Short limb dwarfism recognizable at birth Short-limb dwarfism identifiable at birth Short-limbed dwarfism identifiable at birth A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. HP:0003522 UMLS:C3148833 Childhood-onset short-trunk short stature Disproportionate short-trunk short stature, identifiable in childhood Short-trunk dwarfism identifiable during childhood human_phenotype HP:0008922 Childhood-onset short-trunk short stature HP:0008922 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. https://orcid.org/0000-0002-0736-9199 Childhood-onset short-trunk short stature Disproportionate short-trunk short stature, identifiable in childhood Short-trunk dwarfism identifiable during childhood true HP:0008923 true HP:0008924 true HP:0008925 true HP:0008926 true HP:0008927 true HP:0008928 UMLS:C4024614 human_phenotype HP:0008929 Asymmetric short stature HP:0008929 true HP:0008930 true HP:0008931 true HP:0008932 true HP:0008933 true HP:0008934 Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. UMLS:C1845123 Generalised low muscle tone in neonate Generalised neonatal hypotonia Generalized low muscle tone in neonate Hypotonia, neonatal, generalised Hypotonia, neonatal, generalized human_phenotype HP:0008935 Generalized neonatal hypotonia HP:0008935 Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. https://orcid.org/0000-0002-0736-9199 Generalised low muscle tone in neonate Generalised neonatal hypotonia Generalized low muscle tone in neonate https://orcid.org/0000-0001-5208-3432 Hypotonia, neonatal, generalised Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. HP:0002320 HP:0009062 UMLS:C1853743 Low muscle tone in trunk Muscular hypotonia of the trunk Truncal hypotonia human_phenotype HP:0008936 Axial hypotonia HP:0008936 Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. https://orcid.org/0000-0002-0736-9199 Low muscle tone in trunk https://orcid.org/0000-0001-5208-3432 true HP:0008937 true HP:0008938 true HP:0008939 A generalized form of lymphadenopathy. SNOMEDCT_US:274741002 UMLS:C0476486 Generalised lymphadenopathy Generalised swelling of lymph nodes Generalized swelling of lymph nodes Swollen lymph nodes affecting all regions of the body human_phenotype HP:0008940 Generalized lymphadenopathy HP:0008940 A generalized form of lymphadenopathy. https://orcid.org/0000-0002-0736-9199 Generalised lymphadenopathy Generalised swelling of lymph nodes Generalized swelling of lymph nodes https://orcid.org/0000-0001-5208-3432 Swollen lymph nodes affecting all regions of the body true HP:0008941 An acute form of rhabdomyolysis. UMLS:C3807306 Rhabdomyolysis, acute human_phenotype HP:0008942 Acute rhabdomyolysis HP:0008942 An acute form of rhabdomyolysis. https://orcid.org/0000-0002-0736-9199 true HP:0008943 Muscular atrophy of distal leg muscles. HP:0003442 HP:0003714 HP:0006975 HP:0008949 HP:0009001 UMLS:C1836451 UMLS:C1866863 UMLS:C3806644 Lower leg amyotrophy Lower limb degeneration Muscle atrophy, lower limb, distal human_phenotype Lower limb atrophy Lower limb muscle hypotrophy HP:0008944 Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. Distal lower limb amyotrophy HP:0008944 Muscular atrophy of distal leg muscles. https://orcid.org/0000-0002-0736-9199 Lower limb degeneration https://orcid.org/0000-0001-5208-3432 UMLS:C1835993 human_phenotype HP:0008945 Loss of ability to walk in early childhood HP:0008945 Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. UMLS:C4021528 Hip girdle amyotrophy human_phenotype HP:0008946 Pelvic girdle amyotrophy HP:0008946 Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. https://orcid.org/0000-0002-0736-9199 Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). HP:0002449 HP:0002523 HP:0010572 UMLS:C1860834 Decreased muscle tone in infant Hypotonia early Hypotonia in infancy Hypotonia, early Infantile hypotonia Infantile muscular hypotonia human_phenotype HP:0008947 This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. Floppy infant HP:0008947 Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape). PMID:19078754 Decreased muscle tone in infant https://orcid.org/0000-0001-5208-3432 Muscular atrophy affecting proximally located muscles of the arms. HP:0008995 UMLS:C1866013 Proximal muscle atrophy in upper limbs Proximal upper limb muscle atrophy human_phenotype HP:0008948 Proximal upper limb amyotrophy HP:0008948 Muscular atrophy affecting proximally located muscles of the arms. https://orcid.org/0000-0002-0736-9199 true HP:0008949 true HP:0008950 true HP:0008951 Underdevelopment of muscles of the shoulder. UMLS:C1969001 Underdeveloped shoulder muscle human_phenotype HP:0008952 Shoulder muscle hypoplasia HP:0008952 Underdevelopment of muscles of the shoulder. https://orcid.org/0000-0002-0736-9199 Underdeveloped shoulder muscle https://orcid.org/0000-0001-5208-3432 Underdevelopment of the pectoralis major. UMLS:C1840086 Pectoralis major muscle hypoplasia human_phenotype HP:0008953 The pectoralis major is a thick, fan-shaped muscle of the anterior chest. Pectoralis major hypoplasia HP:0008953 Underdevelopment of the pectoralis major. https://orcid.org/0000-0002-0736-9199 Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. UMLS:C1864716 human_phenotype HP:0008954 Intrinsic hand muscle atrophy HP:0008954 Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. https://orcid.org/0000-0002-0736-9199 Progressive muscular atrophy affecting muscles in the distal portions of the extremities. UMLS:C4024613 human_phenotype HP:0008955 Progressive distal muscular atrophy HP:0008955 Progressive muscular atrophy affecting muscles in the distal portions of the extremities. https://orcid.org/0000-0002-0736-9199 Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. HP:0003748 HP:0008974 UMLS:C1836767 Amyotrophy involving the thigh Amyotrophy of the thigh musculature Proximal lower limb muscle atrophy Thigh muscle atrophy Wasting of thigh muscle human_phenotype HP:0008956 Proximal lower limb amyotrophy HP:0008956 Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. https://orcid.org/0000-0002-0736-9199 Wasting of thigh muscle https://orcid.org/0000-0001-5208-3432 true HP:0008957 true HP:0008958 Reduced strength of the distal musculature of the arms. UMLS:C3150620 human_phenotype HP:0008959 Distal upper limb muscle weakness HP:0008959 Reduced strength of the distal musculature of the arms. https://orcid.org/0000-0002-0736-9199 true HP:0008960 true HP:0008961 Underdevelopment of the muscuklature of the calf. UMLS:C3805450 Hypoplastic calf muscles Underdeveloped calf muscles human_phenotype HP:0008962 Calf muscle hypoplasia HP:0008962 Underdevelopment of the muscuklature of the calf. https://orcid.org/0000-0002-0736-9199 Underdeveloped calf muscles https://orcid.org/0000-0001-5208-3432 Muscle weakness affecting the tibialis anterior muscle. UMLS:C4024612 human_phenotype HP:0008963 This is a bundled term which should be made obsolete. Tibialis muscle weakness HP:0008963 Muscle weakness affecting the tibialis anterior muscle. https://orcid.org/0000-0002-0736-9199 Muscular atrophy that does not display a progression in severity with time. UMLS:C4024611 human_phenotype HP:0008964 Nonprogressive muscular atrophy HP:0008964 Muscular atrophy that does not display a progression in severity with time. https://orcid.org/0000-0002-0736-9199 true HP:0008965 true HP:0008966 A type of muscle stiffness that occurs following physical exertion. HP:0003633 UMLS:C1855579 Exercise-induced muscle stiffness Muscle stiffness with exercise Muscle stiffness, exercise-induced human_phenotype HP:0008967 Exercise-induced muscle stiffness HP:0008967 A type of muscle stiffness that occurs following physical exertion. https://orcid.org/0000-0002-0736-9199 Exercise-induced muscle stiffness Muscle stiffness with exercise Muscle stiffness, exercise-induced Muscle hypertrophy primarily affecting the legs. UMLS:C1850663 human_phenotype HP:0008968 Muscle hypertrophy of the lower extremities HP:0008968 Muscle hypertrophy primarily affecting the legs. https://orcid.org/0000-0002-0736-9199 UMLS:C4024610 human_phenotype HP:0008969 Leg muscle stiffness HP:0008969 SNOMEDCT_US:240074006 UMLS:C0410192 human_phenotype HP:0008970 Scapulohumeral muscular dystrophy HP:0008970 true HP:0008971 Decreased activity of the mitochondrial respiratory chain. UMLS:C1835995 UMLS:C3276441 UMLS:C4024609 human_phenotype Decreased activities of mitochondrial-encoded respiratory chain complexes Decreased activity of mitochondrial respiratory complexes HP:0008972 Decreased activity of mitochondrial respiratory chain HP:0008972 Decreased activity of the mitochondrial respiratory chain. https://orcid.org/0000-0002-0736-9199 Decreased activities of mitochondrial-encoded respiratory chain complexes https://orcid.org/0000-0002-5316-1399 Decreased activity of mitochondrial respiratory complexes https://orcid.org/0000-0002-5316-1399 true HP:0008973 true HP:0008974 true HP:0008975 true HP:0008976 true HP:0008977 UMLS:C4024608 human_phenotype HP:0008978 Necrotizing myopathy HP:0008978 true HP:0008979 true HP:0008980 Muscle hypertrophy affecting the calf muscles. HP:0003703 HP:0009024 UMLS:C1843057 Calf hypertrophy Increased size of calf muscles Muscular hypertrophy of the calf muscles human_phenotype HP:0008981 Distal lower limb hypertrophy Calf muscle hypertrophy HP:0008981 Muscle hypertrophy affecting the calf muscles. https://orcid.org/0000-0002-0736-9199 Increased size of calf muscles https://orcid.org/0000-0001-5208-3432 true HP:0008982 true HP:0008983 Underdevelopment of muscles of the neck. UMLS:C1969000 UMLS:C4280408 UMLS:C4280409 Decreased size of neck muscle Small neck muscle Underdevelopment of neck muscle human_phenotype Deficiency of neck muscle Hypotrophic neck muscle HP:0008984 Neck muscle hypoplasia HP:0008984 Underdevelopment of muscles of the neck. https://orcid.org/0000-0002-0736-9199 Decreased size of neck muscle https://orcid.org/0000-0001-5889-4463 Small neck muscle https://orcid.org/0000-0001-5889-4463 Underdevelopment of neck muscle https://orcid.org/0000-0001-5889-4463 Deficiency of neck muscle https://orcid.org/0000-0001-5889-4463 Hypotrophic neck muscle https://orcid.org/0000-0001-5889-4463 An abnormal increase in the amount of intramuscular fat tissue. UMLS:C1835389 Increased IM fat Increased intramuscular fat human_phenotype HP:0008985 Increased intramuscular fat HP:0008985 An abnormal increase in the amount of intramuscular fat tissue. https://orcid.org/0000-0002-0736-9199 Increased IM fat Increased intramuscular fat Congenital lack, i.e., aplasia of the diaphragm. SNOMEDCT_US:702613006 SNOMEDCT_US:72424001 UMLS:C0221360 Absent diaphragm human_phenotype Agenesis of diaphragm HP:0008986 An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity. Agenesis of the diaphragm HP:0008986 Congenital lack, i.e., aplasia of the diaphragm. https://orcid.org/0000-0002-0736-9199 Absent diaphragm https://orcid.org/0000-0001-5208-3432 true HP:0008987 Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). HP:0008992 UMLS:C0240679 Pelvic girdle muscle wasting human_phenotype HP:0008988 Pelvic girdle muscle atrophy HP:0008988 Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). https://orcid.org/0000-0002-0736-9199 true HP:0008989 true HP:0008990 Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. UMLS:C4024607 human_phenotype HP:0008991 Exercise-induced leg cramps HP:0008991 Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. https://orcid.org/0000-0002-0736-9199 true HP:0008992 An abnormal increase in the amount of intraabdominal fat tissue. UMLS:C1835390 human_phenotype HP:0008993 Increased intraabdominal fat HP:0008993 An abnormal increase in the amount of intraabdominal fat tissue. https://orcid.org/0000-0002-0736-9199 A lack of strength of the proximal muscles of the legs. HP:0002455 HP:0008941 UMLS:C1866010 Muscle weakness, proximal, lower limbs Proximal muscle weakness in lower limbs human_phenotype HP:0008994 Proximal lower limb muscle weakness HP:0008994 A lack of strength of the proximal muscles of the legs. https://orcid.org/0000-0002-0736-9199 true HP:0008995 true HP:0008996 A lack of strength of the proximal muscles of the arms. UMLS:C1866012 Proximal muscle weakness in upper limbs human_phenotype HP:0008997 Proximal upper limb muscle weakness HP:0008997 A lack of strength of the proximal muscles of the arms. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the pectoral muscle. UMLS:C1846477 Hypoplastic pectoral muscle Small pec muscle Underdeveloped pec muscle human_phenotype HP:0008998 Pectoralis hypoplasia HP:0008998 Underdevelopment of the pectoral muscle. https://orcid.org/0000-0002-0736-9199 Small pec muscle https://orcid.org/0000-0001-5208-3432 Underdeveloped pec muscle https://orcid.org/0000-0001-5208-3432 true HP:0008999 true HP:0009000 true HP:0009001 Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. HP:0008989 UMLS:C1835384 Loss of fat tissue in trunk Loss of subcutaneous truncal adipose tissue Loss of truncal adipose tissue human_phenotype HP:0009002 Loss of truncal subcutaneous adipose tissue HP:0009002 Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. https://orcid.org/0000-0002-0736-9199 Loss of fat tissue in trunk https://orcid.org/0000-0001-5208-3432 The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. UMLS:C1837781 Increased fat below the skin in trunk human_phenotype HP:0009003 Increased subcutaneous truncal adipose tissue HP:0009003 The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. https://orcid.org/0000-0002-0736-9199 Increased fat below the skin in trunk https://orcid.org/0000-0001-5208-3432 Underdevelopment of the musculature. HP:0009034 SNOMEDCT_US:205530002 UMLS:C0240414 Muscle hypoplasia Poorly developed skeletal musculature Underdeveloped muscle Underdeveloped muscles human_phenotype HP:0009004 Hypoplasia of the musculature HP:0009004 Underdevelopment of the musculature. https://orcid.org/0009-0006-4530-3154 Poorly developed skeletal musculature Underdeveloped muscle https://orcid.org/0000-0001-5208-3432 UMLS:C1834536 human_phenotype Intrinsic hand muscle weakness HP:0009005 Weakness of the intrinsic hand muscles HP:0009005 true HP:0009006 Underdevelopment of the biceps muscle. UMLS:C1862499 Hypoplastic biceps Underdeveloped biceps human_phenotype HP:0009007 Biceps hypoplasia HP:0009007 Underdevelopment of the biceps muscle. https://orcid.org/0000-0002-0736-9199 Underdeveloped biceps https://orcid.org/0000-0001-5208-3432 true HP:0009008 true HP:0009009 true HP:0009010 Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. UMLS:C1868167 human_phenotype HP:0009011 Hypoplasia of serratus anterior muscle HP:0009011 Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula. https://orcid.org/0000-0002-0736-9199 true HP:0009012 UMLS:C2930932 human_phenotype HP:0009013 Congenital absence of gluteal muscles HP:0009013 true HP:0009014 true HP:0009015 Underdevelopment of muscles of the arm. UMLS:C1846478 Underdevelopment of upper limb muscles human_phenotype HP:0009016 Upper limb muscle hypoplasia HP:0009016 Underdevelopment of muscles of the arm. https://orcid.org/0000-0002-0736-9199 Underdevelopment of upper limb muscles https://orcid.org/0000-0001-5208-3432 Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. UMLS:C4024606 Loss of fat tissue below the skin in gluts human_phenotype HP:0009017 Loss of gluteal subcutaneous adipose tissue HP:0009017 Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. https://orcid.org/0000-0002-0736-9199 Loss of fat tissue below the skin in gluts https://orcid.org/0000-0001-5208-3432 true HP:0009018 UMLS:C1837510 Atrophy of facial adipose tissue Facial fat atrophy Facial fat wasting Loss of subcutaneous adipose tissue from face, progressive Progressive loss of facial fat Progressive loss of facial subcutaneous adipose tissue Progressive loss of subcutaneous adipose tissue from face human_phenotype HP:0009019 Progressive loss of facial adipose tissue HP:0009019 Atrophy of facial adipose tissue https://orcid.org/0000-0001-5889-4463 Facial fat atrophy https://orcid.org/0000-0001-5889-4463 Facial fat wasting https://orcid.org/0000-0001-5889-4463 Progressive loss of facial fat https://orcid.org/0000-0001-5889-4463 Progressive loss of facial subcutaneous adipose tissue https://orcid.org/0000-0001-5889-4462 Progressive loss of subcutaneous adipose tissue from face https://orcid.org/0000-0001-5889-4461 An abnormally increased tendency towards muscle fatigue induced by physical exercise. UMLS:C1855580 human_phenotype HP:0009020 Exercise-induced muscle fatigue HP:0009020 An abnormally increased tendency towards muscle fatigue induced by physical exercise. https://orcid.org/0000-0002-0736-9199 true HP:0009021 true HP:0009022 Decreased strength of the abdominal musculature. HP:0001546 HP:0004873 UMLS:C4021527 Lax abdominal musculature human_phenotype HP:0009023 This may be associated with protuberance of the abdomen. Abdominal wall muscle weakness HP:0009023 Decreased strength of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 true HP:0009024 The presence of an abnormally increased amount of connective tissue. UMLS:C1866021 human_phenotype HP:0009025 Increased connective tissue HP:0009025 The presence of an abnormally increased amount of connective tissue. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. UMLS:C3805860 human_phenotype HP:0009026 Hypoplasia of latissimus dorsi muscle HP:0009026 Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula. https://orcid.org/0000-0002-0736-9199 Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. HP:0003377 SNOMEDCT_US:6077001 UMLS:C0085684 UMLS:C1866141 Foot drop Foot extensor weakness Footdrop Inability to heel walk Inability to walk on heels human_phenotype HP:0009027 Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. Foot dorsiflexor weakness HP:0009027 Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. https://orcid.org/0000-0002-0736-9199 Foot drop Inability to heel walk Inability to walk on heels Generalized weakness of the muscles of the arms and legs. UMLS:C4024605 Generalised weakness of limb muscles human_phenotype HP:0009028 Generalized weakness of limb muscles HP:0009028 Generalized weakness of the muscles of the arms and legs. https://orcid.org/0000-0002-0736-9199 Generalised weakness of limb muscles true HP:0009029 true HP:0009030 Atrophy of the muscles of the ankle. UMLS:C4024604 human_phenotype HP:0009031 Amyotrophy of ankle musculature HP:0009031 Atrophy of the muscles of the ankle. https://orcid.org/0000-0002-0736-9199 true HP:0009032 true HP:0009033 true HP:0009034 true HP:0009035 true HP:0009036 UMLS:C1866774 human_phenotype HP:0009037 Segmental spinal muscular atrophy HP:0009037 true HP:0009038 true HP:0009039 true HP:0009040 true HP:0009041 HP:0003712 human_phenotype HP:0009042 obsolete Marked muscular hypertrophy true HP:0009042 true HP:0009043 HP:0030241 human_phenotype HP:0009044 obsolete Hypoplasia of deltoid muscle true HP:0009044 Rhabdomyolysis induced by exercise. UMLS:C4021526 Rhabdomyolysis with exercise human_phenotype HP:0009045 Exercise-induced rhabdomyolysis HP:0009045 Rhabdomyolysis induced by exercise. https://orcid.org/0000-0002-0736-9199 Reduced ability to run. SNOMEDCT_US:282479002 UMLS:C0560346 Difficulty running human_phenotype HP:0009046 Difficulty running HP:0009046 Reduced ability to run. https://orcid.org/0000-0002-0736-9199 Difficulty running true HP:0009047 true HP:0009048 Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). HP:0008939 HP:0008982 UMLS:C1389118 Peroneal atrophy human_phenotype HP:0009049 The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. Peroneal muscle atrophy HP:0009049 Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). https://orcid.org/0000-0002-0736-9199 Muscular atrophy involving the quadriceps muscle. UMLS:C4024603 Wasting of quad muscles human_phenotype HP:0009050 Quadriceps muscle atrophy HP:0009050 Muscular atrophy involving the quadriceps muscle. https://orcid.org/0000-0002-0736-9199 Wasting of quad muscles https://orcid.org/0000-0001-5208-3432 An increased amount of glycogen in muscle tissue. UMLS:C1968729 human_phenotype HP:0009051 Increased muscle glycogen content HP:0009051 An increased amount of glycogen in muscle tissue. https://orcid.org/0000-0002-0736-9199 true HP:0009052 Reduced strength of the distal musculature of the legs. HP:0003485 HP:0009035 UMLS:C1836450 Distal muscle weakness in lower limbs Muscle weakness, lower limb, distal human_phenotype HP:0009053 This finding can be due to peripheral neuropathy. Distal lower limb muscle weakness HP:0009053 Reduced strength of the distal musculature of the legs. https://orcid.org/0000-0002-0736-9199 UMLS:C2931268 human_phenotype HP:0009054 Scapuloperoneal myopathy HP:0009054 Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. HP:0003788 UMLS:C1838114 Generalised limb muscle atrophy Generalised muscle atrophy, proximal and distal Generalised muscle wasting Generalized muscle atrophy, proximal and distal Generalized muscle wasting human_phenotype HP:0009055 Generalized limb muscle atrophy HP:0009055 Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. https://orcid.org/0000-0002-0736-9199 Generalised limb muscle atrophy Generalised muscle atrophy, proximal and distal Generalised muscle wasting Generalized muscle wasting https://orcid.org/0000-0001-5208-3432 UMLS:C4024602 Loss of fat tissue below the skin from upper limbs human_phenotype HP:0009056 Loss of subcutaneous adipose tissue from upper limbs HP:0009056 Loss of fat tissue below the skin from upper limbs https://orcid.org/0000-0001-5208-3432 true HP:0009057 An abnormal accumulation of lipids in skeletal muscle. HP:0100949 UMLS:C1837262 Fat accumulation in muscle fibers Fat accumulation in muscle fibres Fat deposits in muscle fibers Fat deposits in muscle fibres Increased muscle lipid content Lipid accumulation in skeletal muscle Muscle lipidosis Skeletal muscle lipid accumulation human_phenotype HP:0009058 Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. Increased muscle lipid content HP:0009058 An abnormal accumulation of lipids in skeletal muscle. PMID:20691590 https://orcid.org/0000-0002-0736-9199 Fat accumulation in muscle fibers Fat accumulation in muscle fibres Fat deposits in muscle fibers Fat deposits in muscle fibres Increased muscle lipid content Lipid accumulation in skeletal muscle Skeletal muscle lipid accumulation SNOMEDCT_US:284449005 SNOMEDCT_US:86907008 UMLS:C0221032 Congenital generalised lipodystrophy human_phenotype HP:0009059 Congenital generalized lipodystrophy HP:0009059 Congenital generalised lipodystrophy Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. UMLS:C3805969 human_phenotype HP:0009060 Need to add new UBERON term for scapula muscle Scapular muscle atrophy HP:0009060 Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. https://orcid.org/0000-0002-0736-9199 true HP:0009061 HP:0008936 human_phenotype HP:0009062 obsolete Infantile axial hypotonia true HP:0009062 Progressively reduced strength of the distal musculature. HP:0008933 HP:0009022 HP:0009057 UMLS:C1836609 Muscle weakness, distal, progressive Muscle weakness, progressive, distal human_phenotype HP:0009063 Progressive distal muscle weakness HP:0009063 Progressively reduced strength of the distal musculature. https://orcid.org/0000-0002-0736-9199 Generalized degenerative changes of the fat tissue. HP:0008966 SNOMEDCT_US:284449005 SNOMEDCT_US:86907008 UMLS:C0221032 Generalised lipodystrophy Lipodystrophy, generalised Lipodystrophy, generalized human_phenotype HP:0009064 Generalized lipodystrophy HP:0009064 Generalized degenerative changes of the fat tissue. https://orcid.org/0000-0002-0736-9199 Generalised lipodystrophy Lipodystrophy, generalised true HP:0009065 true HP:0009066 Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. UMLS:C4082951 Progressive spinal muscle degeneration Progressive spinal muscle wasting human_phenotype HP:0009067 Progressive spinal muscular atrophy HP:0009067 Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. https://orcid.org/0000-0002-0736-9199 Progressive spinal muscle degeneration https://orcid.org/0000-0001-5208-3432 Progressive spinal muscle wasting https://orcid.org/0000-0001-5208-3432 true HP:0009068 UMLS:C1838876 human_phenotype HP:0009069 Lethal infantile mitochondrial myopathy HP:0009069 true HP:0009070 Chronic muscle inflammation accompanied by muscle weakness. SNOMEDCT_US:128496001 SNOMEDCT_US:26889001 UMLS:C0027121 human_phenotype HP:0009071 Inflammatory myopathy HP:0009071 Chronic muscle inflammation accompanied by muscle weakness. PMID:19349710 Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. UMLS:C1837323 Hyporeflexia at ankle joints human_phenotype HP:0009072 Decreased Achilles reflex HP:0009072 Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. https://orcid.org/0000-0002-0736-9199 Lack of strength of the proximal muscles that becomes progressively more severe. HP:0008965 UMLS:C1836156 Muscle weakness, progressive, proximal human_phenotype HP:0009073 Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. Progressive proximal muscle weakness HP:0009073 Lack of strength of the proximal muscles that becomes progressively more severe. https://orcid.org/0000-0002-0736-9199 true HP:0009074 true HP:0009075 true HP:0009076 UMLS:C4024601 human_phenotype HP:0009077 Weakness of long finger extensor muscles HP:0009077 true HP:0009078 true HP:0009079 true HP:0009080 true HP:0009081 true HP:0009082 true HP:0009083 UMLS:C1851853 Midline cleft of maxillary alveolar process Midline cleft of upper alveolar ridge Midline notch of maxillary alveolar process Midline notch of maxillary alveolar ridge Midline notch of upper gum ridge human_phenotype HP:0009084 Midline notch of upper alveolar ridge HP:0009084 Midline cleft of maxillary alveolar process https://orcid.org/0000-0001-5889-4463 Midline cleft of upper alveolar ridge https://orcid.org/0000-0001-5889-4463 Midline notch of maxillary alveolar process https://orcid.org/0000-0001-5889-4463 Midline notch of maxillary alveolar ridge https://orcid.org/0000-0001-5889-4463 Midline notch of upper gum ridge https://orcid.org/0000-0001-5889-4463 Increased width of the alveolar ridges. HP:0009078 HP:0009083 Increased size of gum ridge UMLS:C1856164 UMLS:C1865598 Alveolar ridge excess Enlarged alveolar ridge Hyperplasia of alveolar process of jaw Hyperplasia of alveolar ridge Increased size of alveolar ridge Overgrowth of alveolar ridge Overgrowth of gum ridge Thick alveolar ridges Thickened alveolar ridges human_phenotype Hypertrophied alveolar ridge HP:0009085 This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. Alveolar ridge overgrowth HP:0009085 Increased width of the alveolar ridges. PMID:19125428 Increased size of gum ridge https://orcid.org/0000-0001-5889-4463 Alveolar ridge excess https://orcid.org/0000-0001-5889-4463 Enlarged alveolar ridge https://orcid.org/0000-0001-5889-4463 Hyperplasia of alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Hyperplasia of alveolar ridge https://orcid.org/0000-0001-5889-4463 Increased size of alveolar ridge https://orcid.org/0000-0001-5889-4463 Overgrowth of gum ridge https://orcid.org/0000-0001-5889-4463 true HP:0009086 UMLS:C4024600 Posteriorly placed tongue human_phenotype HP:0009087 Posteriorly placed tongue HP:0009087 Posteriorly placed tongue Impairment in the physical production of speech sounds. UMLS:C1865313 human_phenotype HP:0009088 Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). Speech articulation difficulties HP:0009088 true HP:0009089 HP:0001349 human_phenotype HP:0009090 obsolete Facial diplegic appearance true HP:0009090 true HP:0009091 UMLS:C1854934 UMLS:C4280407 Increasing size of gum ridge Progressive hypertrophy of alveolar process of jaw human_phenotype Increasing overgrowth of gum ridge HP:0009092 Progressive alveolar ridge hypertrophy HP:0009092 Increasing size of gum ridge https://orcid.org/0000-0001-5889-4463 Progressive hypertrophy of alveolar process of jaw https://orcid.org/0000-0001-5889-4463 Increasing overgrowth of gum ridge https://orcid.org/0000-0001-5889-4463 true HP:0009093 UMLS:C1849350 UMLS:C4280404 UMLS:C4280405 UMLS:C4280406 Cleft of lower gum ridge Notch of lower alveolar ridge Notch of lower gum ridge Notch of mandibular alveolar ridge Cleft of lower alveolar process Cleft of lower gingiva Cleft of mandibular alveolar process Cleft of mandibular gingiva Notch of lower alveolar process Notch of mandibular alveolar process human_phenotype HP:0009094 Cleft lower alveolar ridge HP:0009094 Cleft of lower gum ridge https://orcid.org/0000-0001-5889-4463 Notch of lower alveolar ridge https://orcid.org/0000-0001-5889-4463 Notch of lower gum ridge https://orcid.org/0000-0001-5889-4463 Notch of mandibular alveolar ridge https://orcid.org/0000-0001-5889-4463 Cleft of lower alveolar process https://orcid.org/0000-0001-5889-4463 Cleft of lower gingiva https://orcid.org/0000-0001-5889-4463 Cleft of mandibular alveolar process https://orcid.org/0000-0001-5889-4463 Cleft of mandibular gingiva https://orcid.org/0000-0001-5889-4463 Notch of lower alveolar process https://orcid.org/0000-0001-5889-4463 Notch of mandibular alveolar process https://orcid.org/0000-0001-5889-4463 true HP:0009095 true HP:0009096 true HP:0009097 Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. UMLS:C4024599 Chronic oral candidiasis Chronic oral thrush Persistent oral thrush human_phenotype HP:0009098 Recurrent oral thrush HP:0009098 Chronic oral thrush https://orcid.org/0000-0002-0736-9199 Cleft palate of the midline of the palate. HP:0008501 HP:0009089 UMLS:C1850968 Central cleft palate Midline cleft palate human_phenotype HP:0009099 Median cleft palate HP:0009099 Cleft palate of the midline of the palate. https://orcid.org/0000-0002-0736-9199 Central cleft palate https://orcid.org/0000-0001-5889-4463 Midline cleft palate UMLS:C1859377 Thick anterior alveolar process of jaw human_phenotype HP:0009100 Thick anterior alveolar ridges HP:0009100 Thick anterior alveolar process of jaw https://orcid.org/0000-0001-5889-4463 A cleft of the lip with overlying mucous membrane. UMLS:C1839277 Submucous labial cleft human_phenotype HP:0009101 Submucous cleft lip may lead to increased nasal resonance. Submucous cleft lip HP:0009101 A cleft of the lip with overlying mucous membrane. https://orcid.org/0000-0002-0736-9199 Submucous labial cleft https://orcid.org/0000-0001-5889-4463 Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. HP:0200095 UMLS:C4024598 AOB Absence of overlap of anterior upper and lower teeth Anterior open bite Anterior open bite between upper and lower teeth Anterior openbite Apertognathia malocclusion Gap between upper and lower front teeth when biting human_phenotype HP:0009102 Anterior open-bite malocclusion HP:0009102 Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. PMID:27615261 https://orcid.org/0000-0002-9338-3017 AOB https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Absence of overlap of anterior upper and lower teeth https://orcid.org/0000-0001-5889-4463 Anterior open bite between upper and lower teeth https://orcid.org/0000-0001-5889-4463 Anterior openbite https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Apertognathia malocclusion https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Gap between upper and lower front teeth when biting https://orcid.org/0000-0001-5889-4463 2008-04-04T08:40:00Z UMLS:C4024597 Absent/small pelvis Absent/underdeveloped pelvis human_phenotype HP:0009103 Aplasia/Hypoplasia involving the pelvis HP:0009103 Absent/small pelvis https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pelvis https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the pubic bone. 2008-04-04T08:41:00Z HP:0008841 UMLS:C1849305 Absent/small pubic bones Absent/underdeveloped pubic bones Hypoplastic/aplastic pubic bones human_phenotype HP:0009104 Aplasia/Hypoplasia of the pubic bone HP:0009104 Absence or underdevelopment of the pubic bone. https://orcid.org/0000-0002-0736-9199 Absent/small pubic bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pubic bones https://orcid.org/0000-0001-5208-3432 Hypoplastic/aplastic pubic bones Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. 2008-04-04T08:41:00Z UMLS:C4024596 UMLS:C4280403 human_phenotype Abnormal maturation of the pubic bone HP:0009105 Abnormal ossification of the pubic bone HP:0009105 Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of the pubic bone https://orcid.org/0000-0001-5208-3432 An abnormality of the formation and mineralization of any bone of the bony pelvis. 2008-04-04T08:42:00Z UMLS:C4021525 UMLS:C4280402 Abnormal ossification involving the bones of the pelvis human_phenotype Abnormal maturation of the pelvis bone HP:0009106 Abnormal pelvis bone ossification HP:0009106 An abnormality of the formation and mineralization of any bone of the bony pelvis. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of the pelvis bone https://orcid.org/0000-0001-5208-3432 2008-04-04T08:42:00Z UMLS:C4024595 human_phenotype Abnormal maturation of thigh bone head and neck HP:0009107 Abnormal ossification involving the femoral head and neck HP:0009107 Abnormal maturation of thigh bone head and neck https://orcid.org/0000-0001-5208-3432 2008-04-04T08:44:00Z UMLS:C4024594 Absent/small head and neck of thighbone Absent/underdeveloped head and neck of thighbone human_phenotype HP:0009108 Aplasia/Hypoplasia involving the femoral head and neck HP:0009108 Absent/small head and neck of thighbone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped head and neck of thighbone https://orcid.org/0000-0001-5208-3432 Interruption of the innervation of the diaphragm. 2008-04-05T10:41:00Z UMLS:C1858529 human_phenotype HP:0009109 Denervation of the diaphragm HP:0009109 Interruption of the innervation of the diaphragm. https://orcid.org/0000-0002-0736-9199 A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. 2008-04-05T10:42:00Z HP:0009114 SNOMEDCT_US:34168003 UMLS:C0011981 human_phenotype Eventration of the diaphragm HP:0009110 Diaphragmatic eventration HP:0009110 A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. https://orcid.org/0000-0002-0736-9199 true HP:0009111 Congenital absence of the left half of the diaphragm. 2008-04-05T10:43:00Z HP:0040048 UMLS:C4024593 Absent left hemidiaphragm Left diaphragmatic hernia human_phenotype HP:0009112 Aplasia of the left hemidiaphragm HP:0009112 Congenital absence of the left half of the diaphragm. https://orcid.org/0000-0002-0736-9199 A decrease in the strength of the diaphragm. 2008-04-05T10:43:00Z HP:0005953 HP:0009111 SNOMEDCT_US:95438009 UMLS:C0521532 UMLS:C4020786 Diaphragmatic paraparesis Weak diaphragm human_phenotype Diminished diaphragmatic motion HP:0009113 Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. Diaphragmatic weakness HP:0009113 A decrease in the strength of the diaphragm. PMID:2509822 https://orcid.org/0000-0002-0736-9199 Weak diaphragm https://orcid.org/0000-0001-5208-3432 true HP:0009114 Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. 2008-04-05T10:53:00Z UMLS:C4024592 Absent/small skeleton Absent/underdeveloped skeleton human_phenotype HP:0009115 Aplasia/hypoplasia involving the skeleton HP:0009115 Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. https://orcid.org/0000-0002-0736-9199 Absent/small skeleton https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped skeleton https://orcid.org/0000-0001-5208-3432 2008-04-05T10:53:00Z UMLS:C4024591 human_phenotype HP:0009116 Aplasia/Hypoplasia involving bones of the skull HP:0009116 Absence or underdevelopment of the maxilla. 2008-04-05T10:57:00Z UMLS:C4024590 Underdevelopment of maxilla Underdevelopment of upper jaw bones human_phenotype HP:0009117 Aplasia/Hypoplasia of the maxilla HP:0009117 Absence or underdevelopment of the maxilla. https://orcid.org/0000-0002-0736-9199 Underdevelopment of maxilla https://orcid.org/0000-0001-5889-4463 Underdevelopment of upper jaw bones https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of the mandible. 2008-04-05T10:57:00Z UMLS:C3494426 UMLS:C4021371 UMLS:C4024589 UMLS:C4280261 UMLS:C4280401 human_phenotype HP:0009118 Aplasia/Hypoplasia of the mandible HP:0009118 Absence or underdevelopment of the mandible. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of frontal sinus. 2008-04-05T11:00:00Z UMLS:C4024588 Abnormally small frontal sinus human_phenotype HP:0009119 Aplasia/Hypoplasia of the frontal sinuses HP:0009119 Absence or underdevelopment of frontal sinus. https://orcid.org/0000-0002-0736-9199 Abnormally small frontal sinus https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of a cranial sinus or sinuses. 2008-04-05T11:01:00Z UMLS:C4024587 human_phenotype HP:0009120 Aplasia/Hypoplasia involving the sinuses HP:0009120 Absence or underdevelopment of a cranial sinus or sinuses. https://orcid.org/0000-0002-0736-9199 An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. 2008-04-05T11:16:00Z UMLS:C4020785 UMLS:C4024586 human_phenotype Abnormality of the axial skeleton HP:0009121 Abnormal axial skeleton morphology HP:0009121 An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. https://orcid.org/0000-0002-0736-9199 Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. 2008-04-05T11:29:00Z UMLS:C4024585 human_phenotype HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton HP:0009122 Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. https://orcid.org/0000-0002-0736-9199 2008-04-05T11:36:00Z UMLS:C4024584 human_phenotype HP:0009123 Mixed hypo- and hyperpigmentation of the skin HP:0009123 An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. 2008-04-05T11:40:00Z UMLS:C4021524 Abnormality of adipose tissue Abnormality of fat tissue Abnormality of fatty tissue human_phenotype HP:0009124 Abnormal adipose tissue morphology HP:0009124 An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. https://orcid.org/0000-0002-0736-9199 Abnormality of adipose tissue Abnormality of fat tissue https://orcid.org/0000-0001-5208-3432 Abnormality of fatty tissue Degenerative changes of the fat tissue. 2008-04-05T11:40:00Z SNOMEDCT_US:71325002 UMLS:C0023787 Inability to make and keep healthy fat tissue human_phenotype HP:0009125 Lipodystrophy HP:0009125 Degenerative changes of the fat tissue. https://orcid.org/0000-0002-0736-9199 Inability to make and keep healthy fat tissue https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). 2008-04-05T11:43:00Z UMLS:C4024583 Increased adipose tissue Increased fat tissue human_phenotype HP:0009126 Increased adipose tissue HP:0009126 An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). https://orcid.org/0000-0002-0736-9199 Increased adipose tissue Increased fat tissue https://orcid.org/0000-0001-5208-3432 A structural anomaly of the appendicular musculature, comprising muscles of the upper limb and pectoral girdle as well as muscles of the lower limb and pelvic girdle. 2008-04-07T02:00:00Z UMLS:C4024582 Abnormal limb muscles Muscle issues in the arms and/or legs human_phenotype HP:0009127 Abnormal appendicular muscle morphology HP:0009127 Abnormal limb muscles https://orcid.org/0000-0001-5208-3432 Muscle issues in the arms and/or legs 2008-04-07T02:01:00Z UMLS:C4024581 Absent/small muscles of extremities Absent/underdeveloped muscles of extremities human_phenotype HP:0009128 Aplasia/Hypoplasia involving the musculature of the extremities HP:0009128 Absent/small muscles of extremities https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped muscles of extremities https://orcid.org/0000-0001-5208-3432 Muscular atrophy involving the muscles of the upper limbs. 2008-04-07T05:01:00Z HP:0003471 UMLS:C4021523 Amyotrophy involving the upper limbs human_phenotype HP:0009129 Upper limb amyotrophy HP:0009129 Muscular atrophy involving the muscles of the upper limbs. https://orcid.org/0000-0002-0736-9199 Muscular atrophy involving the muscles of the hand. 2008-04-07T05:01:00Z HP:0006967 HP:0008934 HP:0008951 HP:0009038 UMLS:C0239830 Amyotrophy involving the musculature of the hand Amyotrophy of hand muscles Hand muscle degeneration Hand muscle wasting Hand muscle wasting, bilateral human_phenotype HP:0009130 This term can be used to described bilateral amyotrophy of the musculature of the hand. Hand muscle atrophy HP:0009130 Muscular atrophy involving the muscles of the hand. https://orcid.org/0000-0002-0736-9199 Hand muscle degeneration https://orcid.org/0000-0001-5208-3432 A disease or lesion affecting the muscles of the thorax. 2008-04-07T05:06:00Z UMLS:C4024580 human_phenotype HP:0009131 Abnormality of the musculature of the thorax HP:0009131 A disease or lesion affecting the muscles of the thorax. https://orcid.org/0000-0002-0736-9199 This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. 2008-04-17T02:39:00Z UMLS:C4021522 Abnormality of bone mineral density involving tarsal bones human_phenotype HP:0009132 Abnormal tarsal bone mineral density HP:0009132 This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. https://orcid.org/0000-0002-0736-9199 true HP:0009133 2008-04-17T02:43:00Z UMLS:C4024579 human_phenotype HP:0009134 Osteolysis involving bones of the feet HP:0009134 true HP:0009135 2008-04-17T02:45:00Z UMLS:C4024578 Duplication involving bones of the feet human_phenotype HP:0009136 Duplication involving bones of the feet HP:0009136 Duplication involving bones of the feet true HP:0009137 An abnormal union between bones or parts of bones lower limbs. 2008-04-17T02:51:00Z UMLS:C4024577 Fusion involving the bones of the lower limbs human_phenotype HP:0009138 Synostosis involving bones of the lower limbs HP:0009138 An abnormal union between bones or parts of bones lower limbs. https://orcid.org/0009-0006-4530-3154 Fusion involving the bones of the lower limbs https://orcid.org/0000-0001-5208-3432 2008-04-17T02:52:00Z UMLS:C4024576 human_phenotype HP:0009139 Osteolysis involving bones of the lower limbs HP:0009139 2008-04-17T02:54:00Z UMLS:C4024575 Fusion involving the bones of the feet human_phenotype HP:0009140 Synostosis involving bones of the feet HP:0009140 Fusion involving the bones of the feet https://orcid.org/0000-0001-5208-3432 2008-05-02T12:00:00Z HP:0009070 UMLS:C4021521 Depletion of mitochondrial dna in skeletal muscle tissue human_phenotype HP:0009141 Depletion of mitochondrial DNA in muscle tissue HP:0009141 2008-05-02T01:23:00Z UMLS:C4024574 Duplication of bones involving the upper extremities human_phenotype HP:0009142 Duplication of bones involving the upper extremities HP:0009142 Duplication of bones involving the upper extremities true HP:0009143 2008-05-02T01:29:00Z UMLS:C4024573 human_phenotype HP:0009144 Supernumerary bones of the axial skeleton HP:0009144 Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. 2008-05-02T01:39:00Z UMLS:C4021520 Abnormality of cerebral artery Abnormality of the cerebral arteries human_phenotype HP:0009145 Abnormal cerebral artery morphology HP:0009145 Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. https://orcid.org/0000-0002-0736-9199 Abnormality of cerebral artery Abnormality of the cerebral arteries true HP:0009146 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. 2008-12-22T01:39:32Z UMLS:C4024572 Enlarged end part of the outermost bone of little finger Enlarged end part of the outermost bone of pinkie finger Enlarged end part of the outermost bone of pinky finger human_phenotype HP:0009147 Enlarged epiphysis of the distal phalanx of the 5th finger HP:0009147 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. 2008-12-22T01:40:08Z UMLS:C4024571 Small end part of the outermost bone of little finger Small end part of the outermost bone of pinkie finger Small end part of the outermost bone of pinky finger human_phenotype HP:0009148 Small epiphysis of the distal phalanx of the 5th finger HP:0009148 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2008-12-22T01:40:48Z HP:0009137 UMLS:C4021519 Delta-shaped epiphysis of the distal phalanx of the 5th finger Triangular end part of the outermost bone of little finger Triangular end part of the outermost bone of pinkie finger Triangular end part of the outermost bone of pinky finger human_phenotype HP:0009149 Triangular epiphysis of the distal phalanx of the 5th finger HP:0009149 A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Abnormality of the proximal phalanx of the little (5th) finger. 2008-12-22T02:00:20Z UMLS:C4024570 Abnormality of the innermost bone little finger Abnormality of the innermost bone pinkie finger Abnormality of the innermost bone pinky finger human_phenotype HP:0009150 Abnormality of the proximal phalanx of the 5th finger HP:0009150 Abnormality of the proximal phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the innermost bone little finger https://orcid.org/0000-0001-5208-3432 Abnormality of the innermost bone pinkie finger https://orcid.org/0000-0001-5208-3432 Abnormality of the innermost bone pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0009151 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. 2008-12-22T02:07:27Z UMLS:C4024569 Abnormality of end part of little finger bone Abnormality of end part of pinkie finger bone Abnormality of end part of pinky finger bone human_phenotype HP:0009152 Abnormality of the epiphyses of the 5th finger HP:0009152 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger. https://orcid.org/0009-0006-4530-3154 Abnormality of end part of little finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of end part of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of end part of pinky finger bone https://orcid.org/0000-0001-5208-3432 Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. 2008-12-22T05:47:42Z UMLS:C4024568 Abnormality of end part of the innermost bone of little finger Abnormality of end part of the innermost bone of pinkie finger Abnormality of end part of the innermost bone of pinky finger human_phenotype HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the 5th finger HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Abnormality of end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Abnormality of end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2008-12-22T05:50:39Z HP:0009156 UMLS:C4021518 Delta-shaped epiphysis of the proximal phalanx of the 5th finger Triangular end part of the innermost bone of little finger Triangular end part of the innermost bone of pinkie finger Triangular end part of the innermost bone of pinky finger human_phenotype HP:0009154 Triangular epiphysis of the proximal phalanx of the 5th finger HP:0009154 A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Delta-shaped epiphysis of the proximal phalanx of the 5th finger Triangular end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2008-12-22T05:50:39Z UMLS:C4020783 UMLS:C4020784 Cone-shaped end part of the innermost bone of little finger Cone-shaped end part of the innermost bone of pinkie finger Cone-shaped end part of the innermost bone of pinky finger human_phenotype Angel-shaped epiphysis of the proximal phalanx of the 5th finger Cone-shaped epiphysis of the proximal phalanx of the little finger HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the 5th finger HP:0009155 A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0009156 Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2008-12-22T05:50:39Z UMLS:C4020782 UMLS:C4024567 Increased bone density of end part of the innermost bone of little finger Increased bone density of end part of the innermost bone of pinkie finger Increased bone density of end part of the innermost bone of pinky finger human_phenotype Ivory epiphysis of the proximal phalanx of the little finger HP:0009157 Ivory epiphysis of the proximal phalanx of the 5th finger HP:0009157 Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Ivory epiphysis of the proximal phalanx of the little finger Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. 2008-12-22T05:50:39Z UMLS:C4024566 Enlarged end part of the innermost bone of little finger Enlarged end part of the innermost bone of pinkie finger Enlarged end part of the innermost bone of pinky finger human_phenotype HP:0009158 Enlarged epiphysis of the proximal phalanx of the 5th finger HP:0009158 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. 2008-12-22T05:50:39Z UMLS:C4024565 Small end part of the innermost bone of little finger Small end part of the innermost bone of pinkie finger Small end part of the innermost bone of pinky finger human_phenotype HP:0009159 Small epiphysis of the proximal phalanx of the 5th finger HP:0009159 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. 2008-12-22T05:50:39Z UMLS:C4024564 Absent end part of the innermost bone of little finger Absent end part of the innermost bone of pinkie finger Absent end part of the innermost bone of pinky finger human_phenotype HP:0009160 Absent epiphysis of the proximal phalanx of the 5th finger HP:0009160 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. 2008-12-22T05:55:56Z HP:0006242 UMLS:C1834034 Absent/hypoplastic middle phalanx of 5th finger Absent/small middle bone of pinky finger Absent/underdeveloped middle bone of little finger Absent/underdeveloped middle bone of pinkie finger Absent/underdeveloped middle bone of pinky finger human_phenotype HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger HP:0009161 Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Absent/small middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of little finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 Absence of the middle phalanx of the little (5th) finger. 2008-12-22T06:08:40Z HP:0005774 UMLS:C3277750 Absent middle bone of little finger Absent middle bone of pinkie finger Absent middle bone of pinky finger Aplasia of the middle phalanx of the 5th finger human_phenotype HP:0009162 Absent middle phalanx of 5th finger HP:0009162 Absence of the middle phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Absent middle bone of little finger https://orcid.org/0000-0001-5208-3432 Absent middle bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Absent middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 HP:0004207 human_phenotype HP:0009163 obsolete Abnormal form of the 5th finger true HP:0009163 2008-12-22T06:53:39Z HP:0006154 UMLS:C1968592 Abnormal calcification of the wrist bones Carpal calcifications human_phenotype HP:0009164 Abnormal calcification of the carpal bones HP:0009164 Abnormal calcification of the wrist bones https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. 2008-12-29T02:07:42Z UMLS:C4024563 Speckled calcifications in end part of the outermost bone of little finger Speckled calcifications in end part of the outermost bone of pinkie finger Speckled calcifications in end part of the outermost bone of pinky finger human_phenotype HP:0009165 Stippling of the epiphysis of the distal phalanx of the 5th finger HP:0009165 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. 2008-12-29T02:14:33Z UMLS:C4024562 Fragmentation of end part of the outermost bone of little finger Fragmentation of end part of the outermost bone of pinkie finger Fragmentation of end part of the outermost bone of pinky finger human_phenotype HP:0009166 Fragmentation of the epiphysis of the distal phalanx of the 5th finger HP:0009166 Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. 2008-12-29T02:18:06Z UMLS:C4024561 Irregular end part of the outermost bone of little finger Irregular end part of the outermost bone of pinkie finger Irregular end part of the outermost bone of pinky finger human_phenotype HP:0009167 Irregular epiphysis of the distal phalanx of the 5th finger HP:0009167 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Irregular end part of the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Irregular end part of the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. 2008-12-29T02:44:53Z UMLS:C4024560 Bullet-shaped middle little finger bone Bullet-shaped middle pinkie finger bone Bullet-shaped middle pinky finger bone human_phenotype HP:0009168 Bullet-shaped middle phalanx of the 5th finger HP:0009168 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle little finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the middle phalanx of the 5th finger. 2008-12-29T02:49:04Z UMLS:C4021517 Broad middle bone of little finger Broad middle bone of pinkie finger Broad middle bone of pinky finger Wide middle phalanx of the 5th finger human_phenotype HP:0009169 Broad middle phalanx of the 5th finger HP:0009169 Increased width of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Broad middle bone of little finger https://orcid.org/0000-0001-5208-3432 Broad middle bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Broad middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. 2008-12-29T02:51:32Z UMLS:C4024559 human_phenotype HP:0009170 Osteolytic defects of the middle phalanx of the 5th finger HP:0009170 Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals. 2008-12-30T02:03:34Z UMLS:C4024558 Triangular end part of the long bone of hand human_phenotype HP:0009171 Triangular epiphyses of the metacarpals HP:0009171 A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals. https://orcid.org/0000-0002-0736-9199 Triangular end part of the long bone of hand https://orcid.org/0000-0001-5889-4463 Abnormality of the phalanges of the 4th (ring) finger. 2009-01-05T04:18:24Z HP:0004191 UMLS:C4021516 Abnormal bones of 4th finger Abnormality of the phalanges of the ring finger human_phenotype HP:0009172 Abnormal 4th finger phalanx morphology HP:0009172 Abnormality of the phalanges of the 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 Abnormal bones of 4th finger Curved appearance of the middle phalanx of the 5th finger. 2008-12-29T03:05:04Z UMLS:C4024557 Curved middle bone of little finger Curved middle bone of pinkie finger Curved middle bone of pinky finger human_phenotype HP:0009173 Curved middle phalanx of the 5th finger HP:0009173 Curved appearance of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Curved middle bone of little finger https://orcid.org/0000-0001-5889-4463 Curved middle bone of pinkie finger https://orcid.org/0000-0001-5889-4463 Curved middle bone of pinky finger https://orcid.org/0000-0001-5889-4463 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. 2009-01-05T04:23:43Z UMLS:C4024556 Abnormality of the end part of the ring finger human_phenotype HP:0009174 Abnormality of the epiphyses of the 4th finger HP:0009174 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the ring finger https://orcid.org/0000-0001-5889-4463 Patchy increase in bone density of the middle phalanx of the 5th finger. 2008-12-29T03:10:34Z UMLS:C4024555 Uneven increase in bone density in the middle bone of the little finger Uneven increase in bone density in the middle bone of the pinkie finger Uneven increase in bone density in the middle bone of the pinky finger human_phenotype HP:0009175 Patchy sclerosis of the middle phalanx of the 5th finger HP:0009175 Patchy increase in bone density of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 true HP:0009176 Fusion of the proximal and middle phalanges of the 5th finger. 2008-12-29T03:17:08Z HP:0005835 HP:0006025 HP:0009232 HP:0009235 UMLS:C1836212 Fused innermost and middle bones of little finger Fused innermost and middle bones of pinkie finger Fused innermost and middle bones of pinky finger Proximal 5th finger symphalangism Proximal fifth finger symphalangism Symphalangism of the proximal and middle phalanges of the 5th finger human_phenotype HP:0009177 Proximal fifth finger symphalangism HP:0009177 Fusion of the proximal and middle phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fused innermost and middle bones of little finger https://orcid.org/0000-0001-5208-3432 Fused innermost and middle bones of pinkie finger https://orcid.org/0000-0001-5208-3432 Fused innermost and middle bones of pinky finger https://orcid.org/0000-0001-5208-3432 HP:0004218 2008-12-29T03:17:43Z human_phenotype HP:0009178 obsolete Symphalangism of middle phalanx of 5th finger true HP:0009178 Displacement of the 5th finger from its normal position. 2008-12-29T03:29:20Z HP:0006036 UMLS:C4021515 Displaced little finger Displaced pinkie finger Displaced pinky finger Laterally displaced fifth finger human_phenotype HP:0009179 Deviation of the 5th finger HP:0009179 Displacement of the 5th finger from its normal position. https://orcid.org/0009-0006-4530-3154 Displaced little finger https://orcid.org/0000-0001-5208-3432 Displaced pinkie finger https://orcid.org/0000-0001-5208-3432 Displaced pinky finger https://orcid.org/0000-0001-5208-3432 Displacement of the 5th finger towards the ulnar side. 2008-12-29T03:30:05Z UMLS:C4024553 human_phenotype HP:0009180 Ulnar deviation of the 5th finger HP:0009180 Displacement of the 5th finger towards the ulnar side. https://orcid.org/0009-0006-4530-3154 true HP:0009181 Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2008-12-29T04:05:33Z UMLS:C4024552 Triangular shaped middle little finger bone Triangular shaped middle pinkie finger bone Triangular shaped middle pinky finger bone human_phenotype HP:0009182 Triangular shaped middle phalanx of the 5th finger HP:0009182 Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped middle little finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. 2008-12-29T04:11:30Z HP:0001184 UMLS:C1865702 human_phenotype 5th finger camptodactyly Fifth finger camptodactyly HP:0009183 Joint contracture of the 5th finger HP:0009183 Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. https://orcid.org/0009-0006-4530-3154 Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. 2008-12-29T04:16:15Z UMLS:C4024551 human_phenotype HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger HP:0009184 Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. 2008-12-29T04:16:58Z HP:0005047 HP:0006062 UMLS:C3554612 Camptodactyly of 5th finger Camptodactyly of the fifth finger human_phenotype HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger HP:0009185 Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. 2008-12-29T04:18:00Z UMLS:C4024550 human_phenotype HP:0009186 Contracture of the metacarpophalangeal joint of the 5th finger HP:0009186 Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2008-12-30T12:07:32Z UMLS:C4024549 Bracket shaped end part of the outermost little finger bone Bracket shaped end part of the outermost pinkie finger bone Bracket shaped end part of the outermost pinky finger bone human_phenotype HP:0009187 Bracket epiphysis of the distal phalanx of the 5th finger HP:0009187 An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2008-12-30T12:28:19Z UMLS:C4024548 human_phenotype HP:0009188 Pseudoepiphysis of the distal phalanx of the 5th finger HP:0009188 A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Fragmented appearance of the epiphyses of the metacarpals. 2008-12-30T02:03:34Z UMLS:C4024547 Fragmentation of end part of the long bone of hand Fragmentation of the metacarpal epiphyses human_phenotype HP:0009189 Fragmented metacarpal epiphysis HP:0009189 Fragmented appearance of the epiphyses of the metacarpals. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the long bone of hand https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the metacarpals. 2008-12-30T02:03:34Z UMLS:C4024546 Irregular end part of the long bone of hand human_phenotype HP:0009190 Irregular epiphyses of the metacarpals HP:0009190 Irregular radiographic opacity of the epiphyses of the metacarpals. https://orcid.org/0000-0002-0736-9199 Irregular end part of the long bone of hand https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2008-12-30T02:03:34Z UMLS:C4024545 Increased bone density of end part of the long bone of hands human_phenotype HP:0009191 Ivory epiphyses of the metacarpals HP:0009191 Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the long bone of hands https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. 2009-01-05T05:57:28Z UMLS:C4024544 Absent/small innermost little finger bone Absent/small innermost pinkie finger bone Absent/small innermost pinky finger bone Absent/underdeveloped innermost pinky finger bone human_phenotype HP:0009192 Aplasia/Hypoplasia of the proximal phalanx of the 5th finger HP:0009192 Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Absent/small innermost little finger bone https://orcid.org/0000-0001-5208-3432 Absent/small innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Absent/small innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. 2008-12-30T02:03:34Z HP:0006091 HP:0006164 UMLS:C1860253 Accessory proximal metacarpal ossification centers Accessory proximal metacarpal ossification centres Metacarpal pseudoepiphyses Pseudoepiphyses of the metacarpals human_phenotype HP:0009193 Metacarpal pseudoepiphysis HP:0009193 A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. https://orcid.org/0009-0006-4530-3154 Accessory proximal metacarpal ossification centres Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. 2008-12-30T02:03:34Z UMLS:C4024543 Small end part of the long bone of hand human_phenotype HP:0009194 Small epiphyses of the metacarpals HP:0009194 Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the long bone of hand https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. 2008-12-30T02:03:34Z UMLS:C4021514 Speckled calcifications in end part of the long bone of hand Stippling of the epiphyses of the metacarpals human_phenotype HP:0009195 Epiphyseal stippling of the metacarpals HP:0009195 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the long bone of hand https://orcid.org/0000-0001-5208-3432 Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. 2008-12-30T02:03:34Z HP:0006013 UMLS:C4021513 Absent end part of the long bone of hand Absent metacarpal ossification center Absent metacarpal ossification centre human_phenotype HP:0009196 Absent metacarpal epiphyses HP:0009196 Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals. https://orcid.org/0000-0002-0736-9199 Absent end part of the long bone of hand https://orcid.org/0000-0001-5208-3432 Absent metacarpal ossification centre An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-05T05:05:01Z UMLS:C4024542 Bracket shaped end part of the innermost bone of the little finger Bracket shaped end part of the innermost bone of the pinkie finger Bracket shaped end part of the innermost bone of the pinky finger human_phenotype HP:0009197 Bracket epiphysis of the proximal phalanx of the 5th finger HP:0009197 An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the innermost bone of the little finger https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. 2009-01-05T04:41:32Z HP:0004228 UMLS:C4021512 Abnormality of end part of the outermost bone of the little finger Abnormality of end part of the outermost bone of the pinkie finger Abnormality of end part of the outermost bone of the pinky finger Abnormality of the epiphysis of the terminal phalanx of the little finger human_phenotype HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger HP:0009198 Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of the outermost bone of the little finger Abnormality of end part of the outermost bone of the pinkie finger Abnormality of end part of the outermost bone of the pinky finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. 2009-01-05T05:09:06Z UMLS:C4024541 Irregular end part of the innermost little finger bone Irregular end part of the innermost pinkie finger bone Irregular end part of the innermost pinky finger bone human_phenotype HP:0009199 Irregular epiphysis of the proximal phalanx of the 5th finger HP:0009199 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the innermost little finger bone https://orcid.org/0000-0001-5208-3432 Irregular end part of the innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Irregular end part of the innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-05T05:10:13Z UMLS:C4024540 human_phenotype HP:0009200 Pseudoepiphysis of the proximal phalanx of the 5th finger HP:0009200 A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. 2009-01-05T05:11:42Z UMLS:C4024539 Speckled calcifications in end part of the innnermost bone of the little finger Speckled calcifications in end part of the innnermost bone of the pinkie finger Speckled calcifications in end part of the innnermost bone of the pinky finger human_phenotype HP:0009201 Stippling of the epiphysis of the proximal phalanx of the 5th finger HP:0009201 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the innnermost bone of the little finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the innnermost bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the innnermost bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. 2009-01-05T05:13:41Z UMLS:C4024538 Fragmentation of end part of the innermost bone of the little finger Fragmentation of end part of the innermost bone of the pinkie finger Fragmentation of end part of the innermost bone of the pinky finger human_phenotype HP:0009202 Fragmentation of the epiphysis of the proximal phalanx of the 5th finger HP:0009202 Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the innermost bone of the little finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the innermost bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the innermost bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. 2009-01-05T05:22:18Z UMLS:C4024537 Absent end part of the middle bone of the little finger Absent end part of the middle bone of the pinkie finger Absent end part of the middle bone of the pinky finger human_phenotype HP:0009203 Absent epiphysis of the middle phalanx of the 5th finger HP:0009203 Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Absent end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Absent end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-05T05:22:18Z UMLS:C4024536 Bracket shaped end part of the middle bone of the little finger Bracket shaped end part of the middle bone of the pinkie finger Bracket shaped end part of the middle bone of the pinky finger human_phenotype HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger HP:0009204 An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-05T05:22:18Z UMLS:C4024535 Cone-shaped end part of the middle bone of the little finger Cone-shaped end part of the middle bone of the pinkie finger Cone-shaped end part of the middle bone of the pinky finger human_phenotype HP:0009205 Cone-shaped epiphysis of the middle phalanx of the 5th finger HP:0009205 A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. 2009-01-05T05:22:18Z UMLS:C4024534 Enlarged end part of the middle bone of the little finger Enlarged end part of the middle bone of the pinkie finger Enlarged end part of the middle bone of the pinky finger human_phenotype HP:0009206 Enlarged epiphysis of the middle phalanx of the 5th finger HP:0009206 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. 2009-01-05T05:22:18Z UMLS:C4024533 Fragmentation of end part of the middle bone of the little finger Fragmentation of end part of the middle bone of the pinkie finger Fragmentation of end part of the middle bone of the pinky finger human_phenotype HP:0009207 Fragmentation of the epiphysis of the middle phalanx of the 5th finger HP:0009207 Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Fragmentation of end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. 2009-01-05T05:22:18Z UMLS:C4024532 Irregular end part of the middle bone of the little finger Irregular end part of the middle bone of the pinkie finger Irregular end part of the middle bone of the pinky finger human_phenotype HP:0009208 Irregular epiphysis of the middle phalanx of the 5th finger HP:0009208 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-05T05:22:18Z UMLS:C4024531 Increased bone density of end part of the middle bone of little finger Increased bone density of end part of the middle bone of pinkie finger Increased bone density of end part of the middle bone of pinky finger human_phenotype HP:0009209 Ivory epiphysis of the middle phalanx of the 5th finger HP:0009209 Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the middle bone of little finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of pinky finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-05T05:22:18Z UMLS:C4024530 human_phenotype HP:0009210 Pseudoepiphysis of the middle phalanx of the 5th finger HP:0009210 A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. 2009-01-05T05:22:18Z UMLS:C4024529 Small end part of the middle bone of the little finger Small end part of the middle bone of the pinkie finger Small end part of the middle bone of the pinky finger human_phenotype HP:0009211 Small epiphysis of the middle phalanx of the 5th finger HP:0009211 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Small end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Small end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. 2009-01-05T05:22:18Z UMLS:C4024528 Speckled calcifications in end part of the middle bone of the little finger Speckled calcifications in end part of the middle bone of the pinkie finger Speckled calcifications in end part of the middle bone of the pinky finger human_phenotype HP:0009212 Stippling of the epiphysis of the middle phalanx of the 5th finger HP:0009212 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-05T05:22:18Z UMLS:C4021511 Delta-shaped epiphysis of the middle phalanx of the 5th finger Triangular end part of the middle bone of the little finger Triangular end part of the middle bone of the pinkie finger Triangular end part of the middle bone of the pinky finger human_phenotype HP:0009213 Triangular epiphysis of the middle phalanx of the 5th finger HP:0009213 A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. 2009-01-05T05:23:59Z UMLS:C4024527 Absent end part of the middle bone of the ring finger human_phenotype HP:0009214 Absent epiphysis of the middle phalanx of the 4th finger HP:0009214 Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-05T05:23:59Z UMLS:C4024526 Bracket shaped end part of the middle bone of the ring finger human_phenotype HP:0009215 Bracket epiphysis of the middle phalanx of the 4th finger HP:0009215 An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-05T05:23:59Z UMLS:C4024525 Cone-shaped end part of the middle bone of the ring finger human_phenotype HP:0009216 Cone-shaped epiphysis of the middle phalanx of the 4th finger HP:0009216 A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. 2009-01-05T05:23:59Z UMLS:C4024524 Enlarged end part of the middle bone of the ring finger human_phenotype HP:0009217 Enlarged epiphysis of the middle phalanx of the 4th finger HP:0009217 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. 2009-01-05T05:23:59Z UMLS:C4024523 Fragmentation of end part of the middle bone of the ring finger human_phenotype HP:0009218 Fragmentation of the epiphysis of the middle phalanx of the 4th finger HP:0009218 Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. 2009-01-05T05:23:59Z UMLS:C4024522 Irregular end part of the middle bone of the ring finger human_phenotype HP:0009219 Irregular epiphysis of the middle phalanx of the 4th finger HP:0009219 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-05T05:23:59Z UMLS:C4024521 Increased bone density of end part of the middle ring finger bone human_phenotype HP:0009220 Ivory epiphysis of the middle phalanx of the 4th finger HP:0009220 Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the middle ring finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-05T05:23:59Z UMLS:C4024520 human_phenotype HP:0009221 Pseudoepiphysis of the middle phalanx of the 4th finger HP:0009221 A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. 2009-01-05T05:23:59Z UMLS:C4024519 Small end part of the middle bone of the ring finger human_phenotype HP:0009222 Small epiphysis of the middle phalanx of the 4th finger HP:0009222 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. 2009-01-05T05:23:59Z UMLS:C4024518 Speckled calcifications in end part of the middle bone of the ring finger human_phenotype HP:0009223 Stippling of the epiphysis of the middle phalanx of the 4th finger HP:0009223 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-05T05:23:59Z UMLS:C4021510 Delta-shaped epiphysis of the middle phalanx of the 4th finger Triangular end part of the middle bone of the ring finger human_phenotype HP:0009224 Triangular epiphysis of the middle phalanx of the 4th finger HP:0009224 A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Absence of the proximal phalanx of the little (5th) finger. 2009-01-05T06:00:33Z UMLS:C4024517 Absent innermost bone of little finger Absent innermost bone of pinkie finger Absent innermost bone of pinky finger human_phenotype HP:0009225 Aplasia of the proximal phalanx of the 5th finger HP:0009225 Absence of the proximal phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Absent innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Absent innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Absent innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Hypoplastic/small proximal phalanx of the fifth finger. 2009-01-05T06:01:34Z UMLS:C4021509 Hypoplastic/small proximal phalanx of the 5th finger Short innermost little finger bone Short innermost pinkie finger bone Short innermost pinky finger bone Short proximal phalanx of the fifth finger human_phenotype HP:0009226 Short proximal phalanx of the 5th finger HP:0009226 Hypoplastic/small proximal phalanx of the fifth finger. https://orcid.org/0000-0002-5316-1399 Short innermost little finger bone https://orcid.org/0000-0001-5208-3432 Short innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Short innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Short proximal phalanx of the fifth finger Increased width of the proximal phalanx of the 5th finger. 2009-01-05T06:11:33Z UMLS:C4021508 Broad innermost little finger bone Broad innermost pinkie finger bone Broad innermost pinky finger bone Wide proximal phalanx of the 5th finger human_phenotype HP:0009227 Broad proximal phalanx of the 5th finger HP:0009227 Increased width of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Broad innermost little finger bone https://orcid.org/0000-0001-5208-3432 Broad innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Broad innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. 2009-01-05T06:11:33Z UMLS:C4024516 Bullet-shaped innermost little finger bone Bullet-shaped innermost pinkie finger bone Bullet-shaped innermost pinky finger bone human_phenotype HP:0009228 Bullet-shaped proximal phalanx of the 5th finger HP:0009228 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost little finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Curved appearance of the proximal phalanx of the 5th finger. 2009-01-05T06:11:33Z UMLS:C4024515 Curved innermost bone of little finger Curved innermost bone of pinkie finger Curved innermost bone of pinky finger human_phenotype HP:0009229 Curved proximal phalanx of the 5th finger HP:0009229 Curved appearance of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Curved innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Curved innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. 2009-01-05T06:11:33Z UMLS:C4024514 human_phenotype HP:0009230 Osteolytic defects of the proximal phalanx of the 5th finger HP:0009230 Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Patchy increase in bone density of the proximal phalanx of the 5th finger. 2009-01-05T06:11:33Z UMLS:C4024513 Uneven increase in bone density in the innermost bone of little finger Uneven increase in bone density in the innermost bone of pinkie finger Uneven increase in bone density in the innermost bone of pinky finger human_phenotype HP:0009231 Patchy sclerosis of the proximal phalanx of the 5th finger HP:0009231 Patchy increase in bone density of the proximal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 HP:0009177 2009-01-05T06:11:33Z human_phenotype HP:0009232 obsolete Symphalangism affecting the proximal phalanx of the 5th finger true HP:0009232 Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-05T06:11:33Z UMLS:C4024511 Triangular shaped innermost little finger bone Triangular shaped innermost pinkie finger bone Triangular shaped innermost pinky finger bone human_phenotype HP:0009233 Triangular shaped proximal phalanx of the 5th finger HP:0009233 Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. PMID:24432108 Triangular shaped innermost little finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Congenital fusion of the fifth metacarpal bone with the proximal phalanx of the fifth finger. 2009-01-05T06:19:01Z UMLS:C4024510 Fused innermost bone of little finger with 5th long bone of hand Fused innermost bone of pinkie finger with 5th long bone of hand Fused innermost bone of pinky finger with 5th long bone of hand human_phenotype HP:0009234 Fifth ray metacarpophalangeal synostosis HP:0009234 Congenital fusion of the fifth metacarpal bone with the proximal phalanx of the fifth finger. https://orcid.org/0000-0002-0736-9199 Fused innermost bone of little finger with 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Fused innermost bone of pinkie finger with 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Fused innermost bone of pinky finger with 5th long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0009235 Rhomboid or triangular shaped 5th (little) finger proximal phalanx. 2009-01-05T06:20:38Z UMLS:C4024509 Rhomboid or triangular shaped innermost bone of little finger Rhomboid or triangular shaped innermost bone of pinkie finger Rhomboid or triangular shaped innermost bone of pinky finger human_phenotype HP:0009236 Rhomboid or triangular shaped 5th finger proximal phalanx HP:0009236 Rhomboid or triangular shaped 5th (little) finger proximal phalanx. https://orcid.org/0000-0002-0736-9199 Rhomboid or triangular shaped innermost bone of little finger https://orcid.org/0000-0001-5208-3432 Rhomboid or triangular shaped innermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Rhomboid or triangular shaped innermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. 2009-01-05T06:54:07Z HP:0001205 HP:0004208 HP:0004210 HP:0004211 HP:0004215 HP:0004217 HP:0005804 HP:0005888 UMLS:C1842878 Fifth finger brachydactyly Hypoplastic phalanges of the little finger Hypoplastic/small 5th finger Hypoplastic/small little finger Short 5th finger Short fifth finger Short fifth fingers Short little finger Short phalanges of the little finger Short pinkie finger Short pinky finger human_phenotype HP:0009237 Short 5th finger HP:0009237 Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. https://orcid.org/0009-0006-4530-3154 Short 5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger https://orcid.org/0000-0001-5208-3432 Short pinky finger https://orcid.org/0000-0001-5208-3432 Absent 5th (little) finger. 2009-01-05T07:02:48Z UMLS:C4024508 Absent little finger Absent pinkie finger Absent pinky finger human_phenotype HP:0009238 Aplasia of the 5th finger HP:0009238 Absent 5th (little) finger. https://orcid.org/0000-0002-0736-9199 Absent little finger https://orcid.org/0000-0001-5208-3432 Absent pinkie finger https://orcid.org/0000-0001-5208-3432 Absent pinky finger https://orcid.org/0000-0001-5208-3432 2009-01-05T07:25:50Z UMLS:C4024507 Absent/small outermost bone of little finger Absent/small outermost bone of pinkie finger Absent/small outermost bone of pinky finger Absent/underdeveloped outermost bone of pinky finger human_phenotype HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th finger HP:0009239 Absent/small outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Absent/small outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Absent/small outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of the 5th finger. 2009-01-05T07:25:50Z UMLS:C4024506 Broad outermost little finger bone Broad outermost pinkie finger bone Broad outermost pinky finger bone Wide outermost pinky finger bone human_phenotype HP:0009240 Broad distal phalanx of the 5th finger HP:0009240 Increased width of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Broad outermost little finger bone https://orcid.org/0000-0001-5208-3432 Broad outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Broad outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Wide outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. 2009-01-05T07:25:50Z UMLS:C4024505 Bullet-shaped outermost little finger bone Bullet-shaped outermost pinkie finger bone Bullet-shaped outermost pinky finger bone human_phenotype HP:0009241 Bullet-shaped distal phalanx of the 5th finger HP:0009241 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost little finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. 2009-01-05T07:25:50Z UMLS:C4024504 human_phenotype HP:0009242 Osteolytic defects of the distal phalanx of the 5th finger HP:0009242 Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Patchy increase in bone density of the distal phalanx of the 5th finger. 2009-01-05T07:25:50Z UMLS:C4024503 Uneven increase in bone density in the outermost bone of little finger Uneven increase in bone density in the outermost bone of pinkie finger Uneven increase in bone density in the outermost bone of pinky finger human_phenotype HP:0009243 Patchy sclerosis of the distal phalanx of the 5th finger HP:0009243 Patchy increase in bone density of the distal phalanx of the 5th finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of little finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the outermost bone of pinky finger https://orcid.org/0000-0001-5208-3432 Fusion of the terminal/distal and middle phalanges of the 5th finger. 2009-01-05T07:25:50Z HP:0006250 HP:0009176 UMLS:C1868573 UMLS:C4020781 Fifth finger distal interphalangeal joint symphalangism Fused end and middle bones of little finger Fused end and middle bones of pinkie finger Fused end and middle bones of pinky finger Symphalangism of the distal and middle phalanges of the 5th finger Symphalangism of the terminal and middle phalanges of the 5th finger human_phenotype Fusion of the terminal and middle phalanges of the 5th finger HP:0009244 Distal fifth finger symphalangism HP:0009244 Fusion of the terminal/distal and middle phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fused end and middle bones of little finger https://orcid.org/0000-0001-5208-3432 Fused end and middle bones of pinkie finger https://orcid.org/0000-0001-5208-3432 Fused end and middle bones of pinky finger https://orcid.org/0000-0001-5208-3432 Fusion of the terminal and middle phalanges of the 5th finger Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-05T07:25:50Z UMLS:C4024502 Triangular shaped outermost little finger bone Triangular shaped outermost pinkie finger bone Triangular shaped outermost pinky finger bone human_phenotype HP:0009245 Triangular shaped distal phalanx of the 5th finger HP:0009245 Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped outermost little finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Absence of the distal phalanx of the little (5th) finger. 2009-01-05T07:27:52Z UMLS:C4024501 Absent outermost little finger bone Absent outermost pinkie finger bone Absent outermost pinky finger bone human_phenotype HP:0009246 Aplasia of the distal phalanx of the 5th finger HP:0009246 Absence of the distal phalanx of the little (5th) finger. https://orcid.org/0000-0002-0736-9199 Absent outermost little finger bone https://orcid.org/0000-0001-5208-3432 Absent outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Absent outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 2009-01-07T11:29:14Z UMLS:C4024500 Abnormality of the end part of the middle bone of the ring finger human_phenotype HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th finger HP:0009247 Abnormality of the end part of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 2009-01-07T12:04:09Z UMLS:C4024499 Abnormality of the end part of the innermost bone of the ring finger human_phenotype HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger HP:0009248 Abnormality of the end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 2009-01-07T12:04:09Z UMLS:C4024498 Abnormality of the end part of the outermost bone of the ring finger human_phenotype HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th finger HP:0009249 Abnormality of the end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. 2009-01-07T12:07:34Z UMLS:C4024497 Absent end part of the outermost bone of the ring finger human_phenotype HP:0009250 Absent epiphysis of the distal phalanx of the 4th finger HP:0009250 Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-07T12:07:34Z UMLS:C4024496 Bracket shaped end part of the outermost bone of the ring finger human_phenotype HP:0009251 Bracket epiphysis of the distal phalanx of the 4th finger HP:0009251 An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-07T12:07:34Z UMLS:C4024495 Cone-shaped end part of the outermost bone of the ring finger human_phenotype HP:0009252 Cone-shaped epiphysis of the distal phalanx of the 4th finger HP:0009252 A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. 2009-01-07T12:07:34Z UMLS:C4024494 Enlarged end part of the outermost bone of the ring finger human_phenotype HP:0009253 Enlarged epiphysis of the distal phalanx of the 4th finger HP:0009253 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. 2009-01-07T12:07:34Z UMLS:C4024493 Fragmentation of end part of the outermost bone of the ring finger human_phenotype HP:0009254 Fragmentation of the epiphysis of the distal phalanx of the 4th finger HP:0009254 Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. 2009-01-07T12:07:34Z UMLS:C4024492 Irregular end part of the outermost bone of the ring finger human_phenotype HP:0009255 Irregular epiphysis of the distal phalanx of the 4th finger HP:0009255 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-07T12:07:34Z UMLS:C4024491 Increased bone density of end part of the outermost ring finger bone human_phenotype HP:0009256 Ivory epiphysis of the distal phalanx of the 4th finger HP:0009256 Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost ring finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-07T12:07:34Z UMLS:C4024490 human_phenotype HP:0009257 Pseudoepiphysis of the distal phalanx of the 4th finger HP:0009257 A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. 2009-01-07T12:07:34Z UMLS:C4024489 Small end part of the outermost bone of the ring finger human_phenotype HP:0009258 Small epiphysis of the distal phalanx of the 4th finger HP:0009258 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. 2009-01-07T12:07:34Z UMLS:C4024488 Speckled calcifications in the end part of the outermost bone of the ring finger human_phenotype HP:0009259 Stippling of the epiphysis of the distal phalanx of the 4th finger HP:0009259 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-07T12:07:34Z UMLS:C4021507 Delta-shaped epiphysis of the distal phalanx of the 4th finger Triangular end part of the outermost bone of ring finger human_phenotype HP:0009260 Triangular epiphysis of the distal phalanx of the 4th finger HP:0009260 A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. 2009-01-07T12:12:59Z UMLS:C4024487 Absent end part of the innermost bone of the ring finger human_phenotype HP:0009261 Absent epiphysis of the proximal phalanx of the 4th finger HP:0009261 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-07T12:12:59Z HP:0004200 UMLS:C4021506 Bracket proximal epiphysis of the ring finger Bracket shaped end part of the innermost bone of the ring finger human_phenotype HP:0009262 Bracket epiphysis of the proximal phalanx of the 4th finger HP:0009262 An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-07T12:12:59Z UMLS:C4024486 Cone-shaped end part of the innermost bone of the ring finger human_phenotype HP:0009263 Cone-shaped epiphysis of the proximal phalanx of the 4th finger HP:0009263 A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. 2009-01-07T12:12:59Z UMLS:C4024485 Enlarged end part of the innermost bone of the ring finger human_phenotype HP:0009264 Enlarged epiphysis of the proximal phalanx of the 4th finger HP:0009264 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. 2009-01-07T12:12:59Z UMLS:C4024484 Fragmentation of end part of the innermost bone of the ring finger human_phenotype HP:0009265 Fragmentation of the epiphysis of the proximal phalanx of the 4th finger HP:0009265 Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. 2009-01-07T12:12:59Z UMLS:C4024483 Irregular end part of the innermost bone of the ring finger human_phenotype HP:0009266 Irregular epiphysis of the proximal phalanx of the 4th finger HP:0009266 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-07T12:12:59Z UMLS:C4024482 Increased bone density of end part of the innermost ring finger bone human_phenotype HP:0009267 Ivory epiphysis of the proximal phalanx of the 4th finger HP:0009267 Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the innermost ring finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-07T12:12:59Z UMLS:C4024481 human_phenotype HP:0009268 Pseudoepiphysis of the proximal phalanx of the 4th finger HP:0009268 A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. 2009-01-07T12:12:59Z UMLS:C4024480 Small end part of the innermost bone of the ring finger human_phenotype HP:0009269 Small epiphysis of the proximal phalanx of the 4th finger HP:0009269 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. 2009-01-07T12:12:59Z UMLS:C4024479 Speckled calcifications in end part of the innermost bone of ring finger human_phenotype HP:0009270 Stippling of the epiphysis of the proximal phalanx of the 4th finger HP:0009270 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the innermost bone of ring finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-07T12:12:59Z UMLS:C4021505 Delta-shaped epiphysis of the proximal phalanx of the 4th finger Triangular end part of the innermost bone of ring finger human_phenotype HP:0009271 Triangular epiphysis of the proximal phalanx of the 4th finger HP:0009271 A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the innermost bone of ring finger https://orcid.org/0000-0001-5208-3432 A small/hypoplastic or absent/aplastic 4th (ring) finger. 2009-01-07T04:01:26Z UMLS:C4024478 Absent/small ring finger bone Absent/underdeveloped ring finger bone human_phenotype HP:0009272 Aplasia/Hypoplasia of the 4th finger HP:0009272 A small/hypoplastic or absent/aplastic 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 Absent/small ring finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ring finger bone https://orcid.org/0000-0001-5208-3432 Displacement of the 4th finger from its normal position. 2009-01-07T04:03:23Z UMLS:C4024477 Deviation of the ring finger human_phenotype HP:0009273 Deviation of the 4th finger HP:0009273 Displacement of the 4th finger from its normal position. https://orcid.org/0000-0002-0736-9199 Deviation of the ring finger https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. 2009-01-07T04:04:54Z HP:0004189 UMLS:C4021504 Joint contractures of the fourth finger human_phenotype HP:0009274 Joint contracture of the 4th finger HP:0009274 Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. 2009-01-07T04:10:39Z UMLS:C4024476 human_phenotype HP:0009275 Contracture of the distal interphalangeal joint of the 4th finger HP:0009275 Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. 2009-01-07T04:10:39Z HP:0005845 UMLS:C4021503 4th finger camptodactyly Camptodactyly of the 4th finger Camptodactyly of the ring finger human_phenotype HP:0009276 Contracture of the proximal interphalangeal joint of the 4th finger HP:0009276 Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. 2009-01-07T04:10:39Z UMLS:C4024475 human_phenotype HP:0009277 Contracture of the metacarpophalangeal joint of the 4th finger HP:0009277 Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). 2009-01-07T04:24:53Z UMLS:C4024474 Ulnar deviation of the ring finger human_phenotype HP:0009278 Ulnar deviation of the 4th finger HP:0009278 Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger). https://orcid.org/0009-0006-4530-3154 Ulnar deviation of the ring finger https://orcid.org/0000-0001-5208-3432 Displacement of the 4th finger towards the radial side (i.e., towards the thumb). 2009-01-07T04:24:53Z UMLS:C4024473 Radial deviation of the ring finger human_phenotype HP:0009279 Radial deviation of the 4th finger HP:0009279 Displacement of the 4th finger towards the radial side (i.e., towards the thumb). https://orcid.org/0009-0006-4530-3154 Radial deviation of the ring finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. 2009-01-07T04:28:08Z HP:0004190 HP:0006211 UMLS:C4021502 Hypoplastic/small 4th finger Short ring finger human_phenotype HP:0009280 Short 4th finger HP:0009280 Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger. https://orcid.org/0009-0006-4530-3154 Short ring finger Absent 4th finger. 2009-01-07T04:28:08Z UMLS:C4024472 Absent ring finger human_phenotype HP:0009281 Aplasia of the 4th finger HP:0009281 Absent 4th finger. https://orcid.org/0000-0002-0736-9199 Absent ring finger https://orcid.org/0000-0001-5208-3432 2009-01-07T04:42:40Z UMLS:C4024471 Abnormality of the outermost bone of ring finger human_phenotype HP:0009282 Abnormality of the distal phalanx of the 4th finger HP:0009282 Abnormality of the outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 2009-01-07T04:42:40Z HP:0004204 UMLS:C4021501 Abnormal middle bone of ring finger Abnormality of the middle phalanx of the ring finger human_phenotype HP:0009283 Abnormality of the middle phalanx of the 4th finger HP:0009283 Abnormal middle bone of ring finger https://orcid.org/0000-0001-5208-3432 Abnormality of the middle phalanx of the ring finger 2009-01-07T04:42:40Z HP:0004199 UMLS:C4021500 Abnormal innermost bone of ring finger Abnormality of the proximal phalanx of the ring finger human_phenotype HP:0009284 Abnormality of the proximal phalanx of the 4th finger HP:0009284 Abnormal innermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Abnormality of the proximal phalanx of the ring finger Curved appearance of the phalanges of the 4th (ring) finger. 2009-01-08T03:44:14Z UMLS:C4024470 Curved ring finger bone human_phenotype HP:0009285 Curved phalanges of the 4th finger HP:0009285 Curved appearance of the phalanges of the 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 Curved ring finger bone https://orcid.org/0000-0001-5208-3432 Curved appearance of the distal phalanx of the 4th (ring) finger. 2009-01-08T03:46:28Z UMLS:C4024469 Curved outermost ring finger bone human_phenotype HP:0009286 Curved distal phalanx of the 4th finger HP:0009286 Curved appearance of the distal phalanx of the 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 Curved outermost ring finger bone https://orcid.org/0000-0001-5208-3432 Curved appearance of the middle phalanx of the 4th (ring) finger. 2009-01-08T03:46:28Z UMLS:C4024468 Curved middle ring finger bone human_phenotype HP:0009287 Curved middle phalanx of the 4th finger HP:0009287 Curved appearance of the middle phalanx of the 4th (ring) finger. https://orcid.org/0000-0002-0736-9199 Curved middle ring finger bone https://orcid.org/0000-0001-5208-3432 2009-01-08T03:46:28Z UMLS:C4024467 Curved innermost ring finger bone human_phenotype HP:0009288 Curved proximal phalanx of the 4th finger HP:0009288 Curved innermost ring finger bone https://orcid.org/0000-0001-5208-3432 2009-01-08T03:59:04Z UMLS:C4024466 Absent/small outermost ring finger bone Absent/underdeveloped outermost ring finger bone human_phenotype HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th finger HP:0009289 Absent/small outermost ring finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost ring finger bone https://orcid.org/0000-0001-5208-3432 Hypoplastic/small distal phalanx of the fourth finger. 2009-01-08T03:59:28Z UMLS:C4021499 Hypoplastic/small distal phalanx of the 4th finger Short distal phalanx of the fourth finger Short outermost bone of ring finger human_phenotype HP:0009290 Short distal phalanx of the 4th finger HP:0009290 Hypoplastic/small distal phalanx of the fourth finger. https://orcid.org/0009-0006-4530-3154 Short outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Absence of the distal phalanx of the ring (4th) finger. 2009-01-08T04:00:27Z UMLS:C4024465 Absent outermost bone of ring finger human_phenotype HP:0009291 Aplasia of the distal phalanx of the 4th finger HP:0009291 Absence of the distal phalanx of the ring (4th) finger. https://orcid.org/0000-0002-0736-9199 Absent outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of the 4th finger. 2009-01-08T04:41:33Z UMLS:C4024464 Broad outermost bone of ring finger Wide outermost bone of ring finger human_phenotype HP:0009292 Broad distal phalanx of the 4th finger HP:0009292 Increased width of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Broad outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Wide outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Increased width of the middle phalanx of the 4th finger. 2009-01-08T04:59:22Z UMLS:C4024463 Broad middle bone of the 4th finger human_phenotype HP:0009293 Broad middle phalanx of the 4th finger HP:0009293 Increased width of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Broad middle bone of the 4th finger https://orcid.org/0000-0001-5208-3432 Absence of the middle phalanx of the ring (4th) finger. 2009-01-08T04:11:35Z UMLS:C4021498 Absent middle bone of 4th finger Aplasia of the middle phalanx of the 4th finger human_phenotype HP:0009294 Absent middle phalanx of 4th finger HP:0009294 Absence of the middle phalanx of the ring (4th) finger. https://orcid.org/0000-0002-0736-9199 Absent middle bone of 4th finger https://orcid.org/0000-0001-5208-3432 Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. 2009-01-08T04:11:35Z HP:0004205 HP:0004206 UMLS:C4021497 Brachymesophalangy IV (finger) Hypoplastic/small middle phalanx of ring finger Hypoplastic/small middle phalanx of the 4th finger Short middle bone of 4th finger Short middle phalanx of ring finger human_phenotype HP:0009295 Short middle phalanx of the 4th finger HP:0009295 Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. https://orcid.org/0009-0006-4530-3154 Short middle bone of 4th finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. 2009-01-08T04:59:22Z UMLS:C4024462 Bullet-shaped middle bone of the 4th finger human_phenotype HP:0009296 Bullet-shaped middle phalanx of the 4th finger HP:0009296 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of the 4th finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. 2009-01-08T04:59:22Z UMLS:C4024461 human_phenotype HP:0009297 Osteolytic defects of the middle phalanx of the 4th finger HP:0009297 Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Absence of the proximal phalanx of the ring (4th) finger. 2009-01-08T04:22:16Z UMLS:C4024460 Absent innermost ring finger bone human_phenotype HP:0009298 Aplasia of the proximal phalanx of the 4th finger HP:0009298 Absence of the proximal phalanx of the ring (4th) finger. https://orcid.org/0000-0002-0736-9199 Absent innermost ring finger bone https://orcid.org/0000-0001-5208-3432 2009-01-08T04:27:22Z UMLS:C4024459 Absent/small middle ring finger bone Absent/underdeveloped middle ring finger bone human_phenotype HP:0009299 Aplasia/Hypoplasia of the middle phalanx of the 4th finger HP:0009299 Absent/small middle ring finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle ring finger bone https://orcid.org/0000-0001-5208-3432 2009-01-08T04:28:54Z HP:0004203 UMLS:C4020658 Absent/small innermost ring finger bone Absent/underdeveloped innermost ring finger bone human_phenotype HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger HP:0009300 Absent/small innermost ring finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost ring finger bone https://orcid.org/0000-0001-5208-3432 Hypoplastic/small proximal phalanx of the fourth finger. 2009-01-08T04:29:38Z UMLS:C4021496 Hypoplastic/small proximal phalanx of the 4th finger Short innermost bone of the ring finger Short proximal phalanx of the fourth finger human_phenotype HP:0009301 Short proximal phalanx of the 4th finger HP:0009301 Hypoplastic/small proximal phalanx of the fourth finger. https://orcid.org/0009-0006-4530-3154 Short innermost bone of the ring finger https://orcid.org/0000-0001-6908-9849 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. 2009-01-08T04:41:33Z UMLS:C4024458 Bullet-shaped outermost bone of ring finger human_phenotype HP:0009302 Bullet-shaped distal phalanx of the 4th finger HP:0009302 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of ring finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. 2009-01-08T04:41:33Z UMLS:C4024457 human_phenotype HP:0009303 Osteolytic defects of the distal phalanx of the 4th finger HP:0009303 Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. 2009-01-08T04:41:33Z UMLS:C4024456 Uneven increase in bone density in the outermost bone of the ring finger human_phenotype HP:0009304 Patchy sclerosis of the distal phalanx of the 4th finger HP:0009304 Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Bony fusion of the middle and distal phalanges of the 4th finger. 2009-01-08T04:41:33Z HP:0009474 HP:0009475 UMLS:C4021495 Fused outermost and middle bones of ring finger Symphalangism of the distal and middle phalanges of the 4th finger human_phenotype HP:0009305 Distal fourth finger symphalangism HP:0009305 Bony fusion of the middle and distal phalanges of the 4th finger. https://orcid.org/0000-0002-0736-9199 Fused outermost and middle bones of ring finger https://orcid.org/0000-0001-5208-3432 Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-08T04:41:33Z UMLS:C4024455 Triangular shaped outermost bone of the ring finger human_phenotype HP:0009306 Triangular shaped distal phalanx of the 4th finger HP:0009306 Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. 2009-01-08T04:59:22Z UMLS:C4024454 Uneven increase in bone density in the middle bone of the ring finger human_phenotype HP:0009307 Patchy sclerosis of the middle phalanx of the 4th finger HP:0009307 Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 HP:0004197 2009-01-08T04:59:22Z human_phenotype HP:0009308 obsolete Symphalangism of middle phalanx of 4th finger true HP:0009308 Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-08T04:59:22Z UMLS:C4024452 Triangular shaped middle bone of the ring finger human_phenotype HP:0009309 Triangular shaped middle phalanx of the 4th finger HP:0009309 Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped middle bone of the ring finger https://orcid.org/0000-0001-6908-9849 Increased width of the proximal phalanx of the 4th finger. 2009-01-08T05:11:48Z HP:0004201 UMLS:C4020660 Broad innermost ring finger bone human_phenotype HP:0009310 Broad proximal phalanx of the 4th finger HP:0009310 Increased width of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Broad innermost ring finger bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. 2009-01-08T05:11:48Z UMLS:C4024451 Bullet-shaped innermost ring finger bone human_phenotype HP:0009311 Bullet-shaped proximal phalanx of the 4th finger HP:0009311 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost ring finger bone https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. 2009-01-08T05:11:48Z HP:0004202 UMLS:C4024450 human_phenotype HP:0009312 Osteolytic defects of the proximal phalanx of the 4th finger HP:0009312 Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. 2009-01-08T05:11:48Z UMLS:C4024449 Uneven increase in bone density in the innermost bone of the ring finger human_phenotype HP:0009313 Patchy sclerosis of the proximal phalanx of the 4th finger HP:0009313 Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 HP:0009477 2009-01-08T05:11:48Z human_phenotype HP:0009314 obsolete Symphalangism affecting the proximal phalanx of the 4th finger true HP:0009314 Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-08T05:11:48Z UMLS:C4024447 Triangular shaped innermost bone of the 4th finger Triangular shaped innermost bone of the ring finger human_phenotype HP:0009315 Triangular shaped proximal phalanx of the 4th finger HP:0009315 Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped innermost bone of the 4th finger https://orcid.org/0000-0001-6908-9849 Triangular shaped innermost bone of the ring finger https://orcid.org/0000-0001-6908-9849 Abnormality of the phalanges of the 3rd (middle) finger. 2009-01-12T11:00:24Z HP:0004155 UMLS:C4021494 Abnormality of 3rd finger phalanges Abnormality of middle finger phalanges Abnormality of the middle finger bones Abnormality of the phalanges of the 3rd finger human_phenotype HP:0009316 Abnormal 3rd finger phalanx morphology HP:0009316 Abnormality of the phalanges of the 3rd (middle) finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the middle finger bones https://orcid.org/0000-0001-6908-9849 Displacement of the 3rd finger from its normal position. 2009-01-12T11:02:27Z HP:0004152 UMLS:C4021493 Deviated middle finger human_phenotype HP:0009317 Deviation of the 3rd finger HP:0009317 Displacement of the 3rd finger from its normal position. https://orcid.org/0000-0002-0736-9199 Deviated middle finger A small/hypoplastic or absent/aplastic 3rd (middle) finger. 2009-01-12T11:04:08Z UMLS:C4024446 Absent/small middle finger Absent/underdeveloped middle finger human_phenotype HP:0009318 Aplasia/Hypoplasia of the 3rd finger HP:0009318 A small/hypoplastic or absent/aplastic 3rd (middle) finger. https://orcid.org/0000-0002-0736-9199 Absent/small middle finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle finger https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. 2009-01-12T11:05:43Z HP:0004151 UMLS:C4021492 Camptodactyly of middle finger human_phenotype HP:0009319 Joint contracture of the 3rd finger HP:0009319 Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected. https://orcid.org/0000-0002-0736-9199 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. 2009-01-12T11:07:00Z UMLS:C4024445 Abnormality of end part of the middle bone of the middle finger human_phenotype HP:0009320 Abnormality of the epiphyses of the 3rd finger HP:0009320 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. 2009-01-12T11:15:44Z UMLS:C4024444 Absent end part of the middle bone of the middle finger human_phenotype HP:0009321 Absent epiphysis of the middle phalanx of the 3rd finger HP:0009321 Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-12T11:15:44Z UMLS:C4024443 Bracket shaped end part of the middle bone of the middle finger human_phenotype HP:0009322 Bracket epiphysis of the middle phalanx of the 3rd finger HP:0009322 An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-12T11:15:44Z UMLS:C4024442 Cone-shaped end part of the middle bone of the middle finger human_phenotype HP:0009323 Cone-shaped epiphysis of the middle phalanx of the 3rd finger HP:0009323 A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:15:44Z UMLS:C4024441 Enlarged end part of the middle bone of the middle finger human_phenotype HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. 2009-01-12T11:15:44Z UMLS:C4024440 Fragmentation of end part of the middle bone of the middle finger human_phenotype HP:0009325 Fragmentation of the epiphysis of the middle phalanx of the 3rd finger HP:0009325 Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. 2009-01-12T11:15:44Z UMLS:C4024439 Irregular end part of the middle bone of the middle finger human_phenotype HP:0009326 Irregular epiphysis of the middle phalanx of the 3rd finger HP:0009326 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-12T11:15:44Z UMLS:C4024438 Increased bone density of end part of the middle bone of the middle finger human_phenotype HP:0009327 Ivory epiphysis of the middle phalanx of the 3rd finger HP:0009327 Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-12T11:15:44Z HP:0004176 UMLS:C4021491 Pseudoepiphyses of middle phalanx of middle-finger human_phenotype HP:0009328 Pseudoepiphysis of the middle phalanx of the 3rd finger HP:0009328 A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:15:44Z UMLS:C4024437 Small end part of the middle bone of the middle finger human_phenotype HP:0009329 Small epiphysis of the middle phalanx of the 3rd finger HP:0009329 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. 2009-01-12T11:15:44Z UMLS:C4024436 Speckled calcifications in end part of the middle bone of the middle finger human_phenotype HP:0009330 Stippling of the epiphysis of the middle phalanx of the 3rd finger HP:0009330 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-12T11:15:44Z UMLS:C4021490 Delta-shaped epiphysis of the middle phalanx of the 3rd finger Triangular end part of the middle bone of the middle finger human_phenotype HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331 A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-01-12T11:16:06Z UMLS:C4024435 Abnormality of the end part of the outermost bone of the middle finger human_phenotype HP:0009332 Abnormality of the epiphysis of the distal phalanx of the 3rd finger HP:0009332 Abnormality of the end part of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-01-12T11:16:44Z UMLS:C4024434 Abnormality of the end part of the innermost bone of the middle finger human_phenotype HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger HP:0009333 Abnormality of the end part of the innermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-01-12T11:16:44Z UMLS:C4024433 Abnormality of the middle part of the middle bone of the middle finger human_phenotype HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd finger HP:0009334 Abnormality of the middle part of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. 2009-01-12T11:18:33Z UMLS:C4024432 Absent end part of the outermost bone of the middle finger human_phenotype HP:0009335 Absent epiphysis of the distal phalanx of the 3rd finger HP:0009335 Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-12T11:18:33Z UMLS:C4024431 Bracket shaped end part of the outermost bone of the middle finger human_phenotype HP:0009336 Bracket epiphysis of the distal phalanx of the 3rd finger HP:0009336 An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-12T11:18:33Z UMLS:C4024430 Cone-shaped end part of the outermost bone of the middle finger human_phenotype HP:0009337 Cone-shaped epiphysis of the distal phalanx of the 3rd finger HP:0009337 A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:18:33Z UMLS:C4024429 Enlarged end part of the outermost bone of the 3rd finger human_phenotype HP:0009338 Enlarged epiphysis of the distal phalanx of the 3rd finger HP:0009338 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the outermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. 2009-01-12T11:18:33Z UMLS:C4024428 Fragmentation of end part of the outermost bone of the middle finger human_phenotype HP:0009339 Fragmentation of the epiphysis of the distal phalanx of the 3rd finger HP:0009339 Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. 2009-01-12T11:18:33Z UMLS:C4024427 Irregular end part of the outermost long bone of the middle finger human_phenotype HP:0009340 Irregular epiphysis of the distal phalanx of the 3rd finger HP:0009340 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the outermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-12T11:18:33Z UMLS:C4024426 Increased bone density of end part of the outermost middle finger bone human_phenotype HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd finger HP:0009341 Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost middle finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-12T11:18:33Z UMLS:C4024425 Pseudoepiphysis of the outermost bone of the middle finger human_phenotype HP:0009342 Pseudoepiphysis of the distal phalanx of the 3rd finger HP:0009342 A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Pseudoepiphysis of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:18:33Z UMLS:C4024424 Small end part of the outermost long bone of the middle finger human_phenotype HP:0009343 Small epiphysis of the distal phalanx of the 3rd finger HP:0009343 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the outermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. 2009-01-12T11:18:33Z UMLS:C4024423 Speckled calcifications in end part of the outermost long bone of the middle finger human_phenotype HP:0009344 Stippling of the epiphysis of the distal phalanx of the 3rd finger HP:0009344 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the outermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-12T11:18:33Z UMLS:C4021489 Delta-shaped epiphysis of the distal phalanx of the 3rd finger Triangular end part of the outermost long bone of the middle finger human_phenotype HP:0009345 Triangular epiphysis of the distal phalanx of the 3rd finger HP:0009345 A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the outermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. 2009-01-12T11:19:03Z UMLS:C4024422 Absent end part of innermost long bone of the middle finger human_phenotype HP:0009346 Absent epiphysis of the proximal phalanx of the 3rd finger HP:0009346 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-12T11:19:03Z UMLS:C4024421 Bracket shaped end part of innermost long bone of the middle finger human_phenotype HP:0009347 Bracket epiphysis of the proximal phalanx of the 3rd finger HP:0009347 An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-12T11:19:03Z UMLS:C4024420 Cone-shaped end part of the innermost bone of the middle finger human_phenotype HP:0009348 Cone-shaped epiphysis of the proximal phalanx of the 3rd finger HP:0009348 A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the innermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:19:03Z HP:0004171 UMLS:C4021488 Enlarged end part of innermost long bone of the middle finger Large epiphysis of proximal middle-finger phalanx human_phenotype HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. 2009-01-12T11:19:03Z UMLS:C4024419 Fragmentation of end part of innermost long bone of the middle finger human_phenotype HP:0009350 Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger HP:0009350 Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. 2009-01-12T11:19:03Z UMLS:C4024418 Irregular end part of innermost long bone of the middle finger human_phenotype HP:0009351 Irregular epiphysis of the proximal phalanx of the 3rd finger HP:0009351 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-12T11:19:03Z UMLS:C4024417 Increased bone density of end part of the innermost middle finger bone human_phenotype HP:0009352 Ivory epiphysis of the proximal phalanx of the 3rd finger HP:0009352 Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the innermost middle finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-12T11:19:03Z UMLS:C4024416 human_phenotype HP:0009353 Pseudoepiphysis of the proximal phalanx of the 3rd finger HP:0009353 A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. 2009-01-12T11:19:03Z UMLS:C4024415 Small end part of innermost long bone of the middle finger human_phenotype HP:0009354 Small epiphysis of the proximal phalanx of the 3rd finger HP:0009354 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. 2009-01-12T11:19:03Z UMLS:C4024414 Speckled calcifications in end part of innermost long bone of the middle finger human_phenotype HP:0009355 Stippling of the epiphysis of the proximal phalanx of the 3rd finger HP:0009355 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-12T11:19:03Z UMLS:C4021487 Delta-shaped epiphysis of the proximal phalanx of the 3rd finger Triangular end part of innermost long bone of the middle finger human_phenotype HP:0009356 Triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356 A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of innermost long bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-01-12T11:40:58Z HP:0004179 UMLS:C4021486 Abnormality of terminal phalanx of middle-finger Abnormality of the outermost bone of the 3rd finger human_phenotype HP:0009357 Abnormality of the distal phalanx of the 3rd finger HP:0009357 Abnormality of the outermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 2009-01-12T11:42:37Z HP:0004167 UMLS:C4021485 Abnormal innermost bone of middle finger Abnormality of proximal middle-finger phalanx human_phenotype HP:0009358 Abnormality of the proximal phalanx of the 3rd finger HP:0009358 Abnormal innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 true HP:0009359 true HP:0009360 true HP:0009361 true HP:0009362 true HP:0009363 true HP:0009364 true HP:0009365 true HP:0009366 true HP:0009367 true HP:0009368 true HP:0009369 2009-01-13T10:50:19Z UMLS:C4024413 human_phenotype HP:0009370 Type A brachydactyly HP:0009370 2009-01-13T10:50:19Z SNOMEDCT_US:715720006 UMLS:C1862151 human_phenotype HP:0009371 Type A1 brachydactyly HP:0009371 2009-01-13T10:50:19Z UMLS:C1832702 Short index fingers and second toes human_phenotype HP:0009372 Type A2 brachydactyly HP:0009372 Short index fingers and second toes https://orcid.org/0000-0001-6908-9849 2009-01-13T10:50:19Z UMLS:C1862103 human_phenotype HP:0009373 Type C brachydactyly HP:0009373 Increased width of the phalanges of the 5th finger. 2009-01-13T10:55:04Z UMLS:C4024412 Broad little finger bones Broad pinkie finger bones Broad pinky finger bones human_phenotype HP:0009374 Broad phalanges of the 5th finger HP:0009374 Increased width of the phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 Broad little finger bones https://orcid.org/0000-0001-5208-3432 Broad pinkie finger bones https://orcid.org/0000-0001-5208-3432 Broad pinky finger bones https://orcid.org/0000-0001-5208-3432 A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-01-13T10:58:05Z UMLS:C4024411 Bullet-shaped little finger bones Bullet-shaped pinkie finger bones Bullet-shaped pinky finger bones human_phenotype HP:0009375 Bullet-shaped phalanges of the 5th finger HP:0009375 A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped little finger bones https://orcid.org/0000-0001-6908-9849 Bullet-shaped pinkie finger bones https://orcid.org/0000-0001-6908-9849 Bullet-shaped pinky finger bones https://orcid.org/0000-0001-6908-9849 Aplasia/Hypoplasia of the phalanges of the 5th finger. 2009-01-13T11:58:25Z UMLS:C4024410 Absent/small little finger bones Absent/small pinkie finger bones Absent/small pinky finger bones Absent/underdeveloped pinky finger bones human_phenotype HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 Absent/small little finger bones https://orcid.org/0000-0001-5208-3432 Absent/small pinkie finger bones https://orcid.org/0000-0001-5208-3432 Absent/small pinky finger bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pinky finger bones https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of one or more of the phalanges of the 5th finger. 2009-01-13T12:00:02Z UMLS:C4021484 Patchy sclerosis of the phalanges of the 5th finger Uneven increase in bone density in little finger bone Uneven increase in bone density in pinkie finger bone Uneven increase in bone density in pinky finger bone human_phenotype HP:0009377 Patchy sclerosis of 5th finger phalanx HP:0009377 Uneven increase in bone density of one or more of the phalanges of the 5th finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in little finger bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in pinkie finger bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in pinky finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-13T12:00:35Z UMLS:C4024409 Triangular shaped little finger bones Triangular shaped pinkie finger bones Triangular shaped pinky finger bones human_phenotype HP:0009378 Triangular shaped phalanges of the 5th finger HP:0009378 Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped little finger bones https://orcid.org/0000-0001-5208-3432 Triangular shaped pinkie finger bones https://orcid.org/0000-0001-5208-3432 Triangular shaped pinky finger bones https://orcid.org/0000-0001-5208-3432 Rhomboid or triangular shaped 5th (little) finger distal phalanx. 2009-01-13T01:01:44Z UMLS:C4024408 Rhomboid or triangular shaped little finger bone Rhomboid or triangular shaped pinkie finger bone Rhomboid or triangular shaped pinky finger bone human_phenotype HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx HP:0009379 Rhomboid or triangular shaped 5th (little) finger distal phalanx. https://orcid.org/0000-0002-0736-9199 Rhomboid or triangular shaped little finger bone https://orcid.org/0000-0001-6908-9849 Rhomboid or triangular shaped pinkie finger bone https://orcid.org/0000-0001-6908-9849 Rhomboid or triangular shaped pinky finger bone https://orcid.org/0000-0001-6908-9849 A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). 2009-01-13T01:05:32Z HP:0001180 HP:0004093 SNOMEDCT_US:71358006 UMLS:C0728895 Absent fingers Aplasia of the fingers Hand has less than 5 fingers Hand oligodactyly human_phenotype HP:0009380 Finger aplasia HP:0009380 A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). https://orcid.org/0000-0002-0736-9199 Absent fingers Hand has less than 5 fingers Abnormally short finger associated with developmental hypoplasia. 2009-01-13T01:07:38Z HP:0004098 HP:0006015 SNOMEDCT_US:249765007 UMLS:C0239594 UMLS:C1844548 Hypoplastic digits Hypoplastic fingers Hypoplastic/small fingers Short finger Stubby finger Stubby fingers human_phenotype HP:0009381 Short finger HP:0009381 Abnormally short finger associated with developmental hypoplasia. https://orcid.org/0000-0002-0736-9199 Short finger Stubby finger https://orcid.org/0000-0001-5208-3432 Stubby fingers Absence of one or more epiphyses of the 5th finger. 2009-01-13T01:19:03Z UMLS:C4024407 Absent end part of little finger bone Absent end part of pinkie finger bone Absent end part of pinky finger bone human_phenotype HP:0009382 Absent epiphyses of the 5th finger HP:0009382 Absence of one or more epiphyses of the 5th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of little finger bone https://orcid.org/0000-0001-5208-3432 Absent end part of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Absent end part of pinky finger bone https://orcid.org/0000-0001-5208-3432 An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-13T01:19:03Z UMLS:C4024406 Bracket shaped end part of little finger bone Bracket shaped end part of pinkie finger bone Bracket shaped end part of pinky finger bone human_phenotype HP:0009383 Bracket epiphyses of the 5th finger HP:0009383 An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of little finger bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of pinky finger bone https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-01-13T01:19:03Z UMLS:C4024405 Cone-shaped end part of the little finger bones Cone-shaped end part of the pinkie finger bones Cone-shaped end part of the pinky finger bones human_phenotype HP:0009384 Cone-shaped epiphyses of the 5th finger HP:0009384 A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the little finger bones https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the pinkie finger bones https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the pinky finger bones https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. 2009-01-13T01:19:03Z UMLS:C4024404 Enlarged end part of the little finger bones Enlarged end part of the pinkie finger bones Enlarged end part of the pinky finger bones human_phenotype HP:0009385 Enlarged epiphyses of the 5th finger HP:0009385 Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the little finger bones https://orcid.org/0000-0001-5208-3432 Enlarged end part of the pinkie finger bones https://orcid.org/0000-0001-5208-3432 Enlarged end part of the pinky finger bones https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the 5th finger. 2009-01-13T01:19:03Z UMLS:C4024403 Fragmentation of the end part of the little finger bones Fragmentation of the end part of the pinkie finger bones Fragmentation of the end part of the pinky finger bones human_phenotype HP:0009386 Fragmentation of the epiphyses of the 5th finger HP:0009386 Fragmented appearance of the epiphyses of the 5th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of the end part of the little finger bones https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the pinkie finger bones https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the pinky finger bones https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the 5th finger. 2009-01-13T01:19:03Z UMLS:C4024402 Irregular end part of the little finger bones Irregular end part of the pinkie finger bones Irregular end part of the pinky finger bones human_phenotype HP:0009387 Irregular epiphyses of the 5th finger HP:0009387 Irregular radiographic opacity of the epiphyses of the 5th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the little finger bones https://orcid.org/0000-0001-5208-3432 Irregular end part of the pinkie finger bones https://orcid.org/0000-0001-5208-3432 Irregular end part of the pinky finger bones https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-13T01:19:03Z UMLS:C4024401 Increased bone density of end part of the little finger Increased bone density of end part of the pinkie finger Increased bone density of end part of the pinky finger human_phenotype HP:0009388 Ivory epiphyses of the 5th finger HP:0009388 Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the little finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the pinkie finger https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the pinky finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-13T01:19:03Z UMLS:C4024400 human_phenotype HP:0009389 Pseudoepiphyses of the 5th finger HP:0009389 A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. 2009-01-13T01:19:03Z UMLS:C4024399 Small end part of little finger bone Small end part of pinkie finger bone Small end part of pinky finger bone human_phenotype HP:0009390 Small epiphyses of the 5th finger HP:0009390 Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of little finger bone https://orcid.org/0000-0001-5208-3432 Small end part of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Small end part of pinky finger bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. 2009-01-13T01:19:03Z UMLS:C4024398 Speckled calcifications in end part of little finger bone Speckled calcifications in end part of pinkie finger bone Speckled calcifications in end part of pinky finger bone human_phenotype HP:0009391 Stippling of the epiphyses of the 5th finger HP:0009391 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of little finger bone https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Speckled calcifications in end part of pinky finger bone https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphyses of the 5th finger of the hand. 2009-01-13T01:19:03Z UMLS:C4021483 Delta-shaped epiphyses of the 5th finger Triangular end part of the little finger Triangular end part of the pinkie finger Triangular end part of the pinky finger human_phenotype HP:0009392 Triangular epiphyses of the 5th finger HP:0009392 A triangular appearance of the epiphyses of the 5th finger of the hand. https://orcid.org/0000-0002-0736-9199 Triangular end part of the little finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the pinkie finger https://orcid.org/0000-0001-5208-3432 Triangular end part of the pinky finger https://orcid.org/0000-0001-5208-3432 Absence of one or more epiphyses of the 4th finger. 2009-01-13T01:59:12Z UMLS:C4024397 Absent end part of the ring finger bone human_phenotype HP:0009393 Absent epiphyses of the 4th finger HP:0009393 Absence of one or more epiphyses of the 4th finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the ring finger bone https://orcid.org/0000-0001-5208-3432 An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-13T01:59:12Z HP:0004192 UMLS:C4024396 Bracket shaped end part of ring finger bones human_phenotype HP:0009394 Bracket epiphyses of the 4th finger HP:0009394 An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of ring finger bones https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-01-13T01:59:12Z UMLS:C4024395 Cone-shaped end part of the ring finger bones human_phenotype HP:0009395 Cone-shaped epiphyses of the 4th finger HP:0009395 A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the ring finger bones https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. 2009-01-13T01:59:12Z UMLS:C4024394 Enlarged end part of the ring finger bones human_phenotype HP:0009396 Enlarged epiphyses of the 4th finger HP:0009396 Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the ring finger bones https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the 4th finger. 2009-01-13T01:59:12Z UMLS:C4024393 Fragmentation of the end part of the ring finger bones human_phenotype HP:0009397 Fragmentation of the epiphyses of the 4th finger HP:0009397 Fragmented appearance of the epiphyses of the 4th finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of the end part of the ring finger bones https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the 4th finger. 2009-01-13T01:59:12Z UMLS:C4024392 Irregular end part of the ring finger bones human_phenotype HP:0009398 Irregular epiphyses of the 4th finger HP:0009398 Irregular radiographic opacity of the epiphyses of the 4th finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the ring finger bones https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-13T01:59:12Z UMLS:C4024391 Increased bone density of end part of the ring finger bone human_phenotype HP:0009399 Ivory epiphyses of the 4th finger HP:0009399 Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the ring finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-13T01:59:12Z UMLS:C4024390 human_phenotype HP:0009400 Pseudoepiphyses of the 4th finger HP:0009400 A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. 2009-01-13T01:59:12Z UMLS:C4024389 Small end part of ring finger bone human_phenotype HP:0009401 Small epiphyses of the 4th finger HP:0009401 Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of ring finger bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. 2009-01-13T01:59:12Z UMLS:C4024388 Speckled calcifications in end part of ring finger bone human_phenotype HP:0009402 Stippling of the epiphyses of the 4th finger HP:0009402 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of ring finger bone https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphyses of the 4th finger of the hand. 2009-01-13T01:59:12Z UMLS:C4021482 Delta-shaped epiphyses of the 4th finger Triangular end part of ring finger bone human_phenotype HP:0009403 Triangular epiphyses of the 4th finger HP:0009403 A triangular appearance of the epiphyses of the 4th finger of the hand. https://orcid.org/0000-0002-0736-9199 Triangular end part of ring finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the phalanges of the 4th finger. 2009-01-13T02:37:29Z UMLS:C4024387 Broad bones of ring finger human_phenotype HP:0009404 Broad phalanges of the 4th finger HP:0009404 Increased width of the phalanges of the 4th finger. https://orcid.org/0000-0002-0736-9199 Broad bones of ring finger https://orcid.org/0000-0001-5208-3432 A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-01-13T02:37:29Z UMLS:C4024386 Bullet-shaped of bone of ring finger human_phenotype HP:0009405 Bullet-shaped phalanges of the 4th finger HP:0009405 A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped of bone of ring finger https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. 2009-01-13T02:37:29Z UMLS:C4021481 Patchy sclerosis of the phalanges of the 4th finger Uneven increase in bone density in ring finger bone human_phenotype HP:0009406 Patchy sclerosis of 4th finger phalanx HP:0009406 Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in ring finger bone https://orcid.org/0000-0001-5208-3432 Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-13T02:37:29Z UMLS:C4024385 Triangular shaped bone of ring finger human_phenotype HP:0009407 Triangular shaped phalanges of the 4th finger HP:0009407 Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped bone of ring finger https://orcid.org/0000-0001-5208-3432 2009-01-13T02:37:29Z UMLS:C4024384 Absent/small ring finger bones Absent/underdeveloped ring finger bones human_phenotype HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger HP:0009408 Absent/small ring finger bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ring finger bones https://orcid.org/0000-0001-5208-3432 true HP:0009409 Absence of the epiphyses of the 3rd finger. 2009-01-14T02:01:59Z UMLS:C4024383 Absent end part of middle finger bone human_phenotype HP:0009410 Absent epiphyses of the 3rd finger HP:0009410 Absence of the epiphyses of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of middle finger bone https://orcid.org/0000-0001-5208-3432 An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-14T02:01:59Z UMLS:C4024382 Bracket shaped end part of middle finger bone human_phenotype HP:0009411 Bracket epiphyses of the 3rd finger HP:0009411 An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of middle finger bone https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-01-14T02:01:59Z UMLS:C4024381 Cone-shaped end part of middle finger bone human_phenotype HP:0009412 Cone-shaped epiphyses of the 3rd finger HP:0009412 A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of middle finger bone https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. 2009-01-14T02:01:59Z UMLS:C4024380 Enlarged end part of middle finger bone human_phenotype HP:0009413 Enlarged epiphyses of the 3rd finger HP:0009413 Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of middle finger bone https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the 3rd finger. 2009-01-14T02:01:59Z UMLS:C4024379 Fragmentation of end part of middle finger bone human_phenotype HP:0009414 Fragmentation of the epiphyses of the 3rd finger HP:0009414 Fragmented appearance of the epiphyses of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of middle finger bone https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the 3rd finger. 2009-01-14T02:01:59Z UMLS:C4024378 Irregular end part of middle finger bone human_phenotype HP:0009415 Irregular epiphyses of the 3rd finger HP:0009415 Irregular radiographic opacity of the epiphyses of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of middle finger bone https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-14T02:01:59Z UMLS:C4024377 Increased bone density of end part of the middle finger bone human_phenotype HP:0009416 Ivory epiphyses of the 3rd finger HP:0009416 Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the middle finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-14T02:01:59Z HP:0004163 UMLS:C4021480 Pseudoepiphyses of middle finger phalanges human_phenotype HP:0009417 Pseudoepiphyses of the 3rd finger HP:0009417 A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. 2009-01-14T02:01:59Z UMLS:C4024376 Small end part of middle finger bone human_phenotype HP:0009418 Small epiphyses of the 3rd finger HP:0009418 Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of middle finger bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. 2009-01-14T02:01:59Z UMLS:C4024375 Speckled calcifications in end part of middle finger bone human_phenotype HP:0009419 Stippling of the epiphyses of the 3rd finger HP:0009419 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of middle finger bone https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphyses of the 3rd finger of the hand. 2009-01-14T02:01:59Z UMLS:C4021479 Delta-shaped epiphyses of the 3rd finger Triangular end part of middle finger bone human_phenotype HP:0009420 Triangular epiphyses of the 3rd finger HP:0009420 A triangular appearance of the epiphyses of the 3rd finger of the hand. https://orcid.org/0000-0002-0736-9199 Triangular end part of middle finger bone https://orcid.org/0000-0001-5208-3432 2009-01-14T03:16:46Z UMLS:C4024374 Absent/small outermost middle finger bone Absent/underdeveloped outermost middle finger bone human_phenotype HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger HP:0009421 Absent/small outermost middle finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost middle finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of the 3rd finger. 2009-01-14T03:16:46Z UMLS:C4024373 Broad outermost bone of middle finger human_phenotype HP:0009422 Broad distal phalanx of the 3rd finger HP:0009422 Increased width of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Broad outermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. 2009-01-14T03:16:46Z UMLS:C4024372 Bullet-shaped outermost bone of the middle finger human_phenotype HP:0009423 Bullet-shaped distal phalanx of the 3rd finger HP:0009423 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. 2009-01-14T03:16:46Z HP:0004181 UMLS:C4021478 Lytic defect of terminal phalanx of middle finger human_phenotype HP:0009424 Osteolytic defects of the distal phalanx of the 3rd finger HP:0009424 Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the distal phalanx of the third finger. 2009-01-14T03:16:46Z UMLS:C4024371 Uneven increase in bone density in the outermost bone of the 3rd finger human_phenotype HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger HP:0009425 Uneven (irregular) increase in bone density of the distal phalanx of the third finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Fusion of the terminal/distal and middle phalanges of the 3rd finger. 2009-01-14T03:16:46Z HP:0009479 HP:0009480 UMLS:C4021477 Fused outermost and middle bones of middle finger Symphalangism of the distal and middle phalanges of the 3rd finger human_phenotype HP:0009426 Distal third finger symphalangism HP:0009426 Fusion of the terminal/distal and middle phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fused outermost and middle bones of middle finger https://orcid.org/0000-0001-5208-3432 Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-14T03:16:46Z UMLS:C4024370 Triangular shaped outermost bone of the middle finger human_phenotype HP:0009427 Triangular shaped distal phalanx of the 3rd finger HP:0009427 Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the distal phalanx of the 3rd finger. 2009-01-14T03:16:46Z UMLS:C4024369 Curved outermost bone of the 3rd finger human_phenotype HP:0009428 Curved distal phalanx of the 3rd finger HP:0009428 Curved appearance of the distal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Absence of the distal phalanx of the middle (3rd) finger. 2009-01-14T03:18:42Z UMLS:C4024368 Absent of the outermost bone of the middle finger human_phenotype HP:0009429 Aplasia of the distal phalanx of the 3rd finger HP:0009429 Absence of the distal phalanx of the middle (3rd) finger. https://orcid.org/0000-0002-0736-9199 Absent of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Increased width of the middle phalanx of the 3rd finger. 2009-01-14T03:41:31Z HP:0004178 UMLS:C4021476 Broad middle bone of middle finger Wide/broad middle phalanx of middle-finger human_phenotype HP:0009430 Broad middle phalanx of the 3rd finger HP:0009430 Increased width of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Broad middle bone of middle finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. 2009-01-14T03:41:31Z UMLS:C4024367 Bullet-shaped middle bone of middle finger human_phenotype HP:0009431 Bullet-shaped middle phalanx of the 3rd finger HP:0009431 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of middle finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the middle phalanx of the 3rd (middle) finger. 2009-01-14T03:41:31Z UMLS:C4024366 Curved middle bone of the middle finger human_phenotype HP:0009432 Curved middle phalanx of the 3rd finger HP:0009432 Curved appearance of the middle phalanx of the 3rd (middle) finger. https://orcid.org/0000-0002-0736-9199 Curved middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. 2009-01-14T03:41:31Z UMLS:C4024365 human_phenotype HP:0009433 Osteolytic defects of the middle phalanx of the 3rd finger HP:0009433 Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the middle phalanx of the third finger. 2009-01-14T03:41:31Z UMLS:C4024364 Uneven increase in bone density in the middle bone of the middle finger human_phenotype HP:0009434 Patchy sclerosis of the middle phalanx of the 3rd finger HP:0009434 Uneven (irregular) increase in bone density of the middle phalanx of the third finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 HP:0009445 2009-01-14T03:41:31Z human_phenotype HP:0009435 obsolete Symphalangism of middle phalanx of 3rd finger true HP:0009435 Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-14T03:41:31Z UMLS:C4024362 Triangular shaped middle bone of the middle finger human_phenotype HP:0009436 Triangular shaped middle phalanx of the 3rd finger HP:0009436 Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-01-14T03:41:31Z UMLS:C4024361 Absent/small middle bone of the middle finger Absent/underdeveloped middle bone of the middle finger human_phenotype HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger HP:0009437 Absent/small middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Absence of the middle phalanx of the middle (3rd) finger. 2009-01-14T03:45:02Z HP:0004173 UMLS:C4021475 Absent middle bone of middle finger Absent middle phalanx of middle finger Aplasia of the middle phalanx of the 3rd finger human_phenotype HP:0009438 Absent middle phalanx of 3rd finger HP:0009438 Absence of the middle phalanx of the middle (3rd) finger. https://orcid.org/0009-0006-4530-3154 Absent middle bone of middle finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. 2009-01-14T03:45:02Z HP:0004177 HP:0006212 UMLS:C4021474 Brachymesophalangy III (finger) Hypoplastic/small middle phalanx of the 3rd finger Short middle bone of middle finger human_phenotype HP:0009439 Short middle phalanx of the 3rd finger HP:0009439 Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. https://orcid.org/0009-0006-4530-3154 Short middle bone of middle finger https://orcid.org/0000-0001-5208-3432 Increased width of the phalanges of the 3rd finger. 2009-01-14T04:09:01Z HP:0004166 UMLS:C4021473 Wide bones of middle finger Wide/broad middle finger phalanges human_phenotype HP:0009440 Broad phalanges of the 3rd finger HP:0009440 Increased width of the phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Wide bones of middle finger https://orcid.org/0000-0001-5208-3432 A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-01-14T04:09:01Z UMLS:C4024360 Bullet-shaped bones of middle finger human_phenotype HP:0009441 Bullet-shaped phalanges of the 3rd finger HP:0009441 A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bones of middle finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the phalanges of the 3rd finger. 2009-01-14T04:09:01Z UMLS:C4024359 Curved bones of middle finger human_phenotype HP:0009442 Curved phalanges of the 3rd finger HP:0009442 Curved appearance of the phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Curved bones of middle finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. 2009-01-14T04:09:01Z HP:0004159 UMLS:C4021472 Lytic defects of middle finger phalanges human_phenotype HP:0009443 Osteolytic defects of the phalanges of the 3rd finger HP:0009443 Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. 2009-01-14T04:09:01Z HP:0004160 UMLS:C4021471 Patchy sclerosis of middle finger phalanges Patchy sclerosis of the phalanges of the 3rd finger Uneven increase in bone density in middle finger bone human_phenotype HP:0009444 Patchy sclerosis of 3rd finger phalanx HP:0009444 Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in middle finger bone https://orcid.org/0000-0001-5208-3432 Congenital bony fusion of two adjacent phalanges of the third finger. 2009-01-14T04:09:01Z HP:0009435 UMLS:C4024358 Fused middle finger human_phenotype HP:0009445 Third finger symphalangism HP:0009445 Congenital bony fusion of two adjacent phalanges of the third finger. https://orcid.org/0000-0002-0736-9199 Fused middle finger https://orcid.org/0000-0001-5208-3432 Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-14T04:09:01Z UMLS:C4024357 Triangular shaped bone of the middle finger human_phenotype HP:0009446 Triangular shaped phalanges of the 3rd finger HP:0009446 Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped bone of the middle finger https://orcid.org/0000-0001-6908-9849 2009-01-14T04:09:01Z HP:0004156 HP:0004158 HP:0004164 HP:0004165 HP:0009449 UMLS:C4024356 Absent/small middle finger bone Absent/underdeveloped middle finger bone Hypoplastic middle finger phalanges Short middle finger phalanges Small middle finger phalanges human_phenotype HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger HP:0009447 Absent/small middle finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle finger bone https://orcid.org/0000-0001-5208-3432 HP:0009447 human_phenotype HP:0009448 obsolete Aplasia of the phalanges of the 3rd finger true HP:0009448 HP:0009447 human_phenotype HP:0009449 obsolete Hypoplastic/small phalanges of the 3rd finger true HP:0009449 Increased width of the proximal phalanx of the 3rd finger. 2009-01-14T04:33:41Z UMLS:C4024355 Broad innermost bone of middle finger human_phenotype HP:0009450 Broad proximal phalanx of the 3rd finger HP:0009450 Increased width of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Broad innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. 2009-01-14T04:33:41Z UMLS:C4024354 Bullet-shaped innermost bone of the middle finger human_phenotype HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger HP:0009451 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the proximal phalanx of the 3rd finger. 2009-01-14T04:33:41Z UMLS:C4024353 Curved innermost bone of middle finger human_phenotype HP:0009452 Curved proximal phalanx of the 3rd finger HP:0009452 Curved appearance of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of middle finger https://orcid.org/0000-0001-6908-9849 Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. 2009-01-14T04:33:41Z UMLS:C4024352 human_phenotype HP:0009453 Osteolytic defects of the proximal phalanx of the 3rd finger HP:0009453 Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. 2009-01-14T04:33:41Z UMLS:C4024351 Uneven increase in bone density in the innermost bone of the middle finger human_phenotype HP:0009454 Patchy sclerosis of the proximal phalanx of the 3rd finger HP:0009454 Uneven (irregular) increase in bone density of the proximal phalanx of the third finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 HP:0009482 2009-01-14T04:33:41Z human_phenotype HP:0009455 obsolete Symphalangism affecting the proximal phalanx of the 3rd finger true HP:0009455 Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-14T04:33:41Z UMLS:C4024349 Triangular shaped innermost bone of middle finger human_phenotype HP:0009456 Triangular shaped proximal phalanx of the 3rd finger HP:0009456 Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped innermost bone of middle finger https://orcid.org/0000-0001-6908-9849 2009-01-14T04:34:45Z UMLS:C4024348 Absent/small innermost bone of middle finger Absent/underdeveloped innermost bone of middle finger human_phenotype HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger HP:0009457 Absent/small innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Absence of the proximal phalanx of the 3rd finger. 2009-01-14T04:35:28Z UMLS:C4024347 Absent innermost bone of middle finger human_phenotype HP:0009458 Aplasia of the proximal phalanx of the 3rd finger HP:0009458 Absence of the proximal phalanx of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. 2009-01-14T04:35:28Z HP:0004169 HP:0004170 UMLS:C4021470 Hypoplastic/small proximal phalanx of the 3rd finger Short innermost bone of middle finger Short proximal middle-finger phalanx Short proximal phalanx of the third finger Small proximal middle-finger phalanx human_phenotype HP:0009459 Short proximal phalanx of the 3rd finger HP:0009459 Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger. https://orcid.org/0009-0006-4530-3154 Short innermost bone of middle finger https://orcid.org/0000-0001-5208-3432 Absent 3rd finger. 2009-01-14T04:56:33Z UMLS:C4024346 Absent middle finger human_phenotype HP:0009460 Aplasia of the 3rd finger HP:0009460 Absent 3rd finger. https://orcid.org/0000-0002-0736-9199 Absent middle finger https://orcid.org/0000-0001-5208-3432 Hypoplastic/small 3rd (middle) finger. 2009-01-14T04:57:43Z HP:0004154 UMLS:C4021469 Hypoplastic/small 3rd finger Short 3rd finger Short middle finger human_phenotype HP:0009461 Short 3rd finger HP:0009461 Hypoplastic/small 3rd (middle) finger. https://orcid.org/0009-0006-4530-3154 Short 3rd finger Short middle finger Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). 2009-01-15T09:35:10Z UMLS:C4024345 Inward turned middle finger human_phenotype HP:0009462 Radial deviation of the 3rd finger HP:0009462 Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). https://orcid.org/0009-0006-4530-3154 Inward turned middle finger https://orcid.org/0000-0001-6908-9849 Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). 2009-01-15T09:35:47Z HP:0005865 HP:0006022 UMLS:C3554614 Ulnar deviation of middle fingers human_phenotype HP:0009463 Ulnar deviation of the 3rd finger HP:0009463 Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). https://orcid.org/0009-0006-4530-3154 Displacement of the 2nd (index) finger towards the ulnar side. 2009-01-15T09:37:48Z HP:0004102 HP:0005811 UMLS:C1844891 Medially deviated index finger Second finger ulnar deviation Ulnar angulation of the index finger Ulnar deviation of index fingers human_phenotype HP:0009464 Ulnar deviation of the 2nd finger HP:0009464 Displacement of the 2nd (index) finger towards the ulnar side. https://orcid.org/0000-0002-0736-9199 Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. 2009-01-15T09:39:43Z HP:0001200 HP:0004096 SNOMEDCT_US:276662009 SNOMEDCT_US:367510009 UMLS:C0231679 Finger bends toward pinky Ulnar Drift human_phenotype HP:0009465 Ulnar deviation of finger HP:0009465 Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Finger bends toward pinky https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. 2009-01-15T09:40:27Z HP:0001157 HP:0001213 HP:0001503 UMLS:C1836189 Radially deviated fingers Radially deviated phalanges human_phenotype HP:0009466 Radial deviation of finger HP:0009466 Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Displacement of the 2nd finger towards the radial side. 2009-01-15T09:40:58Z HP:0004103 HP:0006053 UMLS:C1844709 Radially deviated index finger human_phenotype HP:0009467 Radial deviation of the 2nd finger HP:0009467 Displacement of the 2nd finger towards the radial side. https://orcid.org/0000-0002-0736-9199 Displacement of the 2nd finger from its normal position. 2009-01-15T09:42:36Z HP:0004101 UMLS:C4021468 Deviated index finger Displaced index finger human_phenotype HP:0009468 Deviation of the 2nd finger HP:0009468 Displacement of the 2nd finger from its normal position. https://orcid.org/0000-0002-0736-9199 Displaced index finger https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. 2009-01-15T09:50:20Z UMLS:C4024344 Contracture of the outermost hinge joint of the 3rd finger human_phenotype HP:0009469 Contracture of the distal interphalangeal joint of the 3rd finger HP:0009469 Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Contracture of the outermost hinge joint of the 3rd finger https://orcid.org/0000-0001-6908-9849 Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. 2009-01-15T09:50:20Z UMLS:C4024343 human_phenotype HP:0009470 Contracture of the metacarpophalangeal joint of the 3rd finger HP:0009470 Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. 2009-01-15T09:50:20Z UMLS:C4021467 Camptodactyly of the 3rd finger Camptodactyly of the third finger human_phenotype HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger HP:0009471 Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 true HP:0009472 Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. 2009-01-15T09:59:59Z HP:0001160 HP:0001237 HP:0004094 HP:0005814 HP:0006096 HP:0006173 HP:0006215 HP:0006238 HP:0006255 HP:0009409 HP:0009472 HP:0010563 MEDDRA:10010821 SNOMEDCT_US:86414002 UMLS:C0158113 Contractures involving the hands Contractures of the hands human_phenotype HP:0009473 Joint contracture of the hand HP:0009473 Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. https://orcid.org/0009-0006-4530-3154 MEDDRA:10010821 Contracture of hand joint true HP:0009474 true HP:0009475 true HP:0009476 Fusion of the proximal and middle phalanges of the 4th finger. 2009-01-15T10:24:03Z HP:0009314 HP:0009476 UMLS:C4024342 Fused innermost and middle bone of fourth finger human_phenotype HP:0009477 Proximal fourth finger symphalangism HP:0009477 Fusion of the proximal and middle phalanges of the 4th finger. https://orcid.org/0009-0006-4530-3154 Fused innermost and middle bone of fourth finger Congenital fusion of the fourth metacarpal bone with the proximal phalanx of the fourth finger. 2009-01-15T10:24:03Z UMLS:C4024341 Fused innermost bone of ring finger with 4th long bone of hand human_phenotype HP:0009478 Fourth ray metacarpophalangeal synostosis HP:0009478 Congenital fusion of the fourth metacarpal bone with the proximal phalanx of the fourth finger. https://orcid.org/0000-0002-0736-9199 Fused innermost bone of ring finger with 4th long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0009479 true HP:0009480 true HP:0009481 Fusion of the proximal and middle phalanges of the 3rd finger. 2009-01-15T10:29:08Z HP:0009455 HP:0009481 UMLS:C4024340 Fused of innermost and middle bones of middle finger human_phenotype HP:0009482 Proximal third finger symphalangism HP:0009482 Fusion of the proximal and middle phalanges of the 3rd finger. https://orcid.org/0000-0002-0736-9199 Fused of innermost and middle bones of middle finger https://orcid.org/0000-0001-5208-3432 Congenital fusion of the third metacarpal bone with the proximal phalanx of the third finger. 2009-01-15T10:29:08Z UMLS:C4024339 Fused innermost bones of middle finger with middle long bone of hand human_phenotype HP:0009483 Third ray metacarpophalangeal synostosis HP:0009483 Congenital fusion of the third metacarpal bone with the proximal phalanx of the third finger. https://orcid.org/0000-0002-0736-9199 Fused innermost bones of middle finger with middle long bone of hand https://orcid.org/0000-0001-5208-3432 Displacement of the hand or of fingers of the hand from their normal position. 2009-01-15T10:45:01Z UMLS:C4024338 Displaced hand or fingers of the hand human_phenotype HP:0009484 Deviation of the hand or of fingers of the hand HP:0009484 Displacement of the hand or of fingers of the hand from their normal position. https://orcid.org/0000-0002-0736-9199 Displaced hand or fingers of the hand https://orcid.org/0000-0001-5208-3432 2009-01-15T10:49:51Z UMLS:C4024337 human_phenotype HP:0009485 Radial deviation of the hand or of fingers of the hand HP:0009485 An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). 2009-01-15T10:51:21Z HP:0001203 SNOMEDCT_US:299035006 UMLS:C0575803 Radial deviation of hands human_phenotype HP:0009486 Radial deviation of the hand HP:0009486 An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). https://orcid.org/0000-0002-0736-9199 Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). 2009-01-15T10:51:52Z SNOMEDCT_US:249757009 UMLS:C0241521 Ulnar deviation of hands Ulnar deviation of the hands human_phenotype HP:0009487 Ulnar deviation of the hand HP:0009487 Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). PMID:19125433 https://orcid.org/0000-0002-0736-9199 Ulnar deviation of hands https://orcid.org/0000-0002-5316-1399 Ulnar deviation of the hands https://orcid.org/0000-0002-5316-1399 Absence of the epiphyses of the 2nd finger. 2009-01-16T01:07:16Z UMLS:C4024336 Absent end part of index finger human_phenotype HP:0009488 Absent epiphyses of the 2nd finger HP:0009488 Absence of the epiphyses of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of index finger https://orcid.org/0000-0001-5208-3432 An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-16T01:07:16Z HP:0004109 UMLS:C4021466 Bracket shaped end part of index finger Bracket-epiphyses of index finger human_phenotype HP:0009489 Bracket epiphyses of the 2nd finger HP:0009489 An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of index finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-01-16T01:07:16Z UMLS:C4024335 Cone-shaped end part of the index finger human_phenotype HP:0009490 Cone-shaped epiphyses of the 2nd finger HP:0009490 A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the index finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. 2009-01-16T01:07:16Z UMLS:C4024334 Enlarged end part of the index finger human_phenotype HP:0009491 Enlarged epiphyses of the 2nd finger HP:0009491 Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the index finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the 2nd finger. 2009-01-16T01:07:16Z UMLS:C4024333 Fragmentation of end part of the index finger human_phenotype HP:0009492 Fragmentation of the epiphyses of the 2nd finger HP:0009492 Fragmented appearance of the epiphyses of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the index finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the 2nd finger. 2009-01-16T01:07:16Z UMLS:C4024332 Irregular end part of the index finger human_phenotype HP:0009493 Irregular epiphyses of the 2nd finger HP:0009493 Irregular radiographic opacity of the epiphyses of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the index finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-16T01:07:16Z UMLS:C4024331 Increased bone density of end part of the index finger bone human_phenotype HP:0009494 Ivory epiphyses of the 2nd finger HP:0009494 Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the index finger bone https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-16T01:07:16Z HP:0004107 HP:0006142 UMLS:C4021465 Accessory index finger epiphysis human_phenotype HP:0009495 Pseudoepiphysis of the 2nd finger HP:0009495 A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. 2009-01-16T01:07:16Z UMLS:C4024330 Small end part of the index finger human_phenotype HP:0009496 Small epiphyses of the 2nd finger HP:0009496 Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the index finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. 2009-01-16T01:07:16Z UMLS:C4024329 Speckled calcifications in end part of the index finger human_phenotype HP:0009497 Stippling of the epiphyses of the 2nd finger HP:0009497 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the index finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphyses of the 2nd finger of the hand. 2009-01-16T01:07:16Z UMLS:C4024328 Triangular end part of the index finger human_phenotype HP:0009498 Triangular epiphyses of the 2nd finger HP:0009498 A triangular appearance of the epiphyses of the 2nd finger of the hand. https://orcid.org/0000-0002-0736-9199 Triangular end part of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:08:35Z HP:0004146 UMLS:C4021464 Abnormality of the end part of the outermost bone of the index finger Epiphyseal abnormality of terminal index finger phalanx human_phenotype HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger HP:0009499 Abnormality of the end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:08:35Z HP:0004135 UMLS:C4021463 Abnormality of end part of the middle bone of the index finger Epiphyseal abnormality of middle phalanx of the 2nd finger human_phenotype HP:0009500 Abnormality of the epiphysis of the middle phalanx of the 2nd finger HP:0009500 Abnormality of end part of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:08:35Z HP:0004127 UMLS:C4021462 Epiphyseal abnormality of the proximal phalanx of the 2nd finger human_phenotype HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger HP:0009501 Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. 2009-01-16T01:11:04Z HP:0004147 UMLS:C4021461 Absent end part of the outermost bone of the index finger Absent ossification/absent epiphysis of terminal index finger phalanx human_phenotype HP:0009502 Absent epiphysis of the distal phalanx of the 2nd finger HP:0009502 Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Absent end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-16T01:11:04Z UMLS:C4024327 Bracket shaped end part of the outermost bone of the index finger human_phenotype HP:0009503 Bracket epiphysis of the distal phalanx of the 2nd finger HP:0009503 An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-16T01:11:04Z UMLS:C4024326 Cone-shaped end part of the outermost bone of the index finger human_phenotype HP:0009504 Cone-shaped epiphysis of the distal phalanx of the 2nd finger HP:0009504 A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. 2009-01-16T01:11:04Z UMLS:C4024325 Enlarged end part of the outermost bone of the index finger human_phenotype HP:0009505 Enlarged epiphysis of the distal phalanx of the 2nd finger HP:0009505 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. 2009-01-16T01:11:04Z UMLS:C4024324 Fragmentation of end part of the outermost bone of the index finger human_phenotype HP:0009506 Fragmentation of the epiphysis of the distal phalanx of the 2nd finger HP:0009506 Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. 2009-01-16T01:11:04Z UMLS:C4024323 Irregular end part of the outermost bone of the index finger human_phenotype HP:0009507 Irregular epiphysis of the distal phalanx of the 2nd finger HP:0009507 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Irregular end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-16T01:11:04Z HP:0004148 UMLS:C4021460 Increased bone density of end part of the outermost bone of the index finger Ivory epiphysis of terminal index finger phalanx human_phenotype HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd finger HP:0009508 Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-16T01:11:04Z UMLS:C4024322 human_phenotype HP:0009509 Pseudoepiphysis of the distal phalanx of the 2nd finger HP:0009509 A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. 2009-01-16T01:11:04Z UMLS:C4024321 Small end part of the outermost bone of the index finger human_phenotype HP:0009510 Small epiphysis of the distal phalanx of the 2nd finger HP:0009510 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. 2009-01-16T01:11:04Z UMLS:C4024320 Speckled calcifications in end part of the outermost bone of the index finger human_phenotype HP:0009511 Stippling of the epiphysis of the distal phalanx of the 2nd finger HP:0009511 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-16T01:11:04Z UMLS:C4024319 Triangular end part of the outermost bone of the index finger human_phenotype HP:0009512 Triangular epiphysis of the distal phalanx of the 2nd finger HP:0009512 A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z HP:0004136 UMLS:C4021459 Absent epiphyses of middle phalanx of index finger Missing end part of the middle long bone of the index finger human_phenotype HP:0009513 Absent epiphysis of the middle phalanx of the 2nd finger HP:0009513 Missing end part of the middle long bone of the index finger https://orcid.org/0000-0001-5208-3432 An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-16T01:12:17Z UMLS:C4024318 Bracket shaped end part of the middle long bone of the index finger human_phenotype HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514 An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the middle long bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z HP:0004137 UMLS:C4021458 Cone-shaped end part of the middle long bone of the index finger Cone-shaped epiphyses of middle phalanx of index finger human_phenotype HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd finger HP:0009515 Cone-shaped end part of the middle long bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024317 Enlarged end part of the middle bone of the index finger human_phenotype HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516 Enlarged end part of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024316 Fragmentation of end part of the middle long bone of the index finger human_phenotype HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger HP:0009517 Fragmentation of end part of the middle long bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024315 Irregular end part of the middle long bone of the index finger human_phenotype HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd finger HP:0009518 Irregular end part of the middle long bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024314 Increased bone density of end part of the middle bone of the index finger human_phenotype HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger HP:0009519 Increased bone density of end part of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-16T01:12:17Z UMLS:C4024313 human_phenotype HP:0009520 Pseudoepiphysis of the middle phalanx of the 2nd finger HP:0009520 A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 2009-01-16T01:12:17Z UMLS:C4024312 Small end part of the innermost long bone of index finger human_phenotype HP:0009521 Small epiphysis of the middle phalanx of the 2nd finger HP:0009521 Small end part of the innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024311 Speckled calcifications in end part of the middle bone of the index finger human_phenotype HP:0009522 Stippling of the epiphysis of the middle phalanx of the 2nd finger HP:0009522 Speckled calcifications in end part of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:17Z UMLS:C4024310 Triangular end part of the middle bone of the index finger human_phenotype HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523 Triangular end part of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z UMLS:C4024309 Absent end part of innermost long bone of index finger human_phenotype HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd finger HP:0009524 Absent end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-16T01:12:34Z HP:0004120 UMLS:C4021457 Bracket epiphyses of proximal index finger phalanx Bracket shaped end part of innermost long bone of index finger human_phenotype HP:0009525 Bracket epiphysis of the proximal phalanx of the 2nd finger HP:0009525 An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z HP:0004128 UMLS:C4021456 Cone-shaped end part of innermost long bone of index finger Cone-shaped epiphysis of proximal index finger phalanx human_phenotype HP:0009526 Cone-shaped epiphysis of the proximal phalanx of the 2nd finger HP:0009526 Cone-shaped end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z HP:0004129 UMLS:C4021455 Enlarged end part of innermost long bone of index finger Large epiphysis of proximal index finger phalanx human_phenotype HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527 Enlarged end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z UMLS:C4024308 Fragmentation of end part of innermost long bone of index finger human_phenotype HP:0009528 Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger HP:0009528 Fragmentation of end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z UMLS:C4024307 Irregular end part of innermost long bone of index finger human_phenotype HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd finger HP:0009529 Irregular end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z UMLS:C4024306 Increased bone density of end part of the innermost bone of the index finger human_phenotype HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger HP:0009530 Increased bone density of end part of the innermost bone of the index finger https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-01-16T01:12:34Z UMLS:C4024305 human_phenotype HP:0009531 Pseudoepiphysis of the proximal phalanx of the 2nd finger HP:0009531 A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 2009-01-16T01:12:34Z UMLS:C4024304 Small end part of proximal long bond of index finger human_phenotype HP:0009532 Small epiphysis of the proximal phalanx of the 2nd finger HP:0009532 Small end part of proximal long bond of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z UMLS:C4024303 Speckled calcifications in end part of the innermost long bone of index finger human_phenotype HP:0009533 Stippling of the epiphysis of the proximal phalanx of the 2nd finger HP:0009533 Speckled calcifications in end part of the innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 2009-01-16T01:12:34Z HP:0004130 UMLS:C4021454 Triangular end part of innermost long bone of index finger Triangular epiphysis of proximal index finger phalanx human_phenotype HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534 Triangular end part of innermost long bone of index finger https://orcid.org/0000-0001-5208-3432 Absent 2nd (index) finger. 2009-01-19T04:18:22Z HP:0004106 UMLS:C4021453 Absent index finger Absent index finger phalanges Aplasia of the index finger human_phenotype HP:0009535 Aplasia of the 2nd finger HP:0009535 Absent 2nd (index) finger. https://orcid.org/0000-0002-0736-9199 Absent index finger https://orcid.org/0000-0001-5208-3432 Hypoplasia of the second finger, also known as the index finger. 2009-01-19T04:18:22Z HP:0004104 HP:0004113 HP:0004115 HP:0005796 UMLS:C1862142 Hypoplastic index finger phalanges Hypoplastic/small index finger Short index finger Short index finger phalanges Short index fingers human_phenotype HP:0009536 Short 2nd finger HP:0009536 Hypoplasia of the second finger, also known as the index finger. https://orcid.org/0009-0006-4530-3154 Short index finger Short index fingers Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. 2009-01-21T10:10:27Z UMLS:C4021452 Joint contractures of the 2nd finger human_phenotype HP:0009537 Flexion contracture of the 2nd finger HP:0009537 Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. 2009-01-21T10:11:49Z UMLS:C4024302 human_phenotype HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger HP:0009538 Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. 2009-01-21T10:11:49Z UMLS:C4024301 human_phenotype HP:0009539 Contracture of the metacarpophalangeal joint of the 2nd finger HP:0009539 Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. 2009-01-21T10:11:49Z UMLS:C4021451 Camptodactyly of 2nd finger Camptodactyly of index finger Camptodactyly of second finger human_phenotype HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger HP:0009540 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Abnormality of the phalanges of the 2nd (index) finger. 2009-01-21T10:15:07Z HP:0004105 UMLS:C4021450 Abnormal index finger bones Abnormality of 2nd finger phalanges human_phenotype HP:0009541 Abnormality of the phalanges of the 2nd finger HP:0009541 Abnormality of the phalanges of the 2nd (index) finger. https://orcid.org/0000-0002-0736-9199 Abnormal index finger bones https://orcid.org/0000-0001-5208-3432 2009-01-21T10:17:15Z HP:0004111 HP:0004140 UMLS:C4021449 Abnormality of terminal index finger phalanx Abnormality of the outermost bone of the 2nd finger human_phenotype HP:0009542 Abnormality of the distal phalanx of the 2nd finger HP:0009542 Abnormality of the outermost bone of the 2nd finger https://orcid.org/0000-0001-5208-3432 2009-01-21T10:17:15Z HP:0004131 UMLS:C4021448 Abnormal middle index finger bone Abnormality of middle 2nd finger phalanx human_phenotype HP:0009543 Abnormality of the middle phalanx of the 2nd finger HP:0009543 Abnormal middle index finger bone https://orcid.org/0000-0001-5208-3432 2009-01-21T10:17:15Z HP:0004119 UMLS:C4021447 Abnormal innermost index finger bone Abnormality of the proximal 2nd finger phalanx human_phenotype HP:0009544 Abnormality of the proximal phalanx of the 2nd finger HP:0009544 Abnormal innermost index finger bone https://orcid.org/0000-0001-5208-3432 Congenital bony fusion of two adjacent phalanges of the second finger. 2009-01-21T10:19:34Z HP:0004116 HP:0009574 UMLS:C4021446 Fused index finger bones Symphalangism of index finger phalanges human_phenotype HP:0009545 Second finger symphalangism HP:0009545 Fused index finger bones https://orcid.org/0000-0001-5208-3432 Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-21T10:19:34Z HP:0004117 UMLS:C4021445 Triangular bones of index finger Triangular index finger phalanges human_phenotype HP:0009546 Triangular shaped phalanges of the 2nd finger HP:0009546 Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular bones of index finger https://orcid.org/0000-0001-5208-3432 2009-01-21T10:19:34Z HP:0004118 UMLS:C4021444 Wide index finger bones Wide/broad index finger phalanges human_phenotype HP:0009547 Broad phalanges of the 2nd finger HP:0009547 Wide index finger bones https://orcid.org/0000-0001-5208-3432 A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-01-21T10:20:26Z UMLS:C4024300 Bullet-shaped index finger bones human_phenotype HP:0009548 Bullet-shaped phalanges of the 2nd finger HP:0009548 A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped index finger bones https://orcid.org/0000-0001-5208-3432 2009-01-21T10:20:26Z UMLS:C4024299 Curved index finger bones human_phenotype HP:0009549 Curved phalanges of the 2nd finger HP:0009549 Curved index finger bones https://orcid.org/0000-0001-5208-3432 2009-01-21T10:20:26Z HP:0004114 UMLS:C4021443 Lytic defect in index finger phalanges human_phenotype HP:0009550 Osteolytic defects of the phalanges of the 2nd finger HP:0009550 Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. 2009-01-21T10:20:26Z UMLS:C4021442 Patchy sclerosis of the phalanges of the 2nd finger Uneven increase in bone density in index finger bone human_phenotype HP:0009551 Patchy sclerosis of 2nd finger phalanx HP:0009551 Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in index finger bone https://orcid.org/0000-0001-5208-3432 2009-01-21T10:20:26Z UMLS:C4024298 Absent/small index finger bone Absent/underdeveloped index finger bone human_phenotype HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger HP:0009552 Absent/small index finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped index finger bone https://orcid.org/0000-0001-5208-3432 The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. 2009-01-21T05:19:14Z UMLS:C4024297 Abnormality of the hairline human_phenotype HP:0009553 Abnormality of the hairline HP:0009553 The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. https://orcid.org/0000-0002-0736-9199 Abnormality of the hairline An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. 2009-01-21T05:21:54Z UMLS:C4024296 Hair displacement, preauricular, towards lateral cheekbone Hair growing down to cheek Projection of scalp hair onto lateral cheek human_phenotype HP:0009554 Preauricular hair displacement HP:0009554 An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. https://orcid.org/0000-0002-0736-9199 Hair growing down to cheek https://orcid.org/0000-0001-5889-4463 Projection of scalp hair onto lateral cheek Underdevelopment of the pharynx. 2009-01-21T05:24:16Z Small pharynx UMLS:C4024295 UMLS:C4280396 UMLS:C4280397 UMLS:C4280398 UMLS:C4280399 UMLS:C4280400 Decreased size of pharynx Underdevelopment of pharynx Decreased diameter of pharynx Decreased length of pharynx Decreased volume of pharynx Decreased width of pharynx human_phenotype Hypotrophic pharynx HP:0009555 Hypoplasia of the pharynx HP:0009555 Underdevelopment of the pharynx. https://orcid.org/0000-0002-0736-9199 Small pharynx https://orcid.org/0000-0001-5889-4463 Decreased size of pharynx https://orcid.org/0000-0001-5889-4463 Underdevelopment of pharynx https://orcid.org/0000-0001-5889-4463 Decreased diameter of pharynx https://orcid.org/0000-0001-5889-4463 Decreased length of pharynx https://orcid.org/0000-0001-5889-4463 Decreased volume of pharynx https://orcid.org/0000-0001-5889-4463 Decreased width of pharynx https://orcid.org/0000-0001-5889-4463 Hypotrophic pharynx https://orcid.org/0000-0001-5889-4463 Absence of the tibia. 2009-01-27T06:09:44Z UMLS:C3276744 Absent shankbone Absent shinbone Aplasia of the tibia human_phenotype HP:0009556 Absent tibia HP:0009556 Absence of the tibia. https://orcid.org/0000-0002-0736-9199 Absent shankbone https://orcid.org/0000-0001-5208-3432 Absent shinbone https://orcid.org/0000-0001-5208-3432 2009-01-28T04:16:02Z UMLS:C4024294 Absent/small outermost index finger bone Absent/underdeveloped outermost index finger bone human_phenotype HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger HP:0009557 Absent/small outermost index finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost index finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of the 2nd finger. 2009-01-28T04:16:02Z UMLS:C4024293 Wide outermost bone of the index finger human_phenotype HP:0009558 Broad distal phalanx of the 2nd finger HP:0009558 Increased width of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Wide outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. 2009-01-28T04:16:02Z UMLS:C4024292 Bullet-shaped outermost bone of the index finger human_phenotype HP:0009559 Bullet-shaped distal phalanx of the 2nd finger HP:0009559 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the distal phalanx of the 2nd finger. 2009-01-28T04:16:02Z UMLS:C4024291 Curved outermost bone of the index finger human_phenotype HP:0009560 Curved distal phalanx of the 2nd finger HP:0009560 Curved appearance of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. 2009-01-28T04:16:02Z HP:0004108 HP:0004142 UMLS:C4021441 Acro-osteolysis of index finger Acro-osteolysis of terminal index finger phalanx Osteolytic defects of the outermost bone of the 2nd finger human_phenotype HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger HP:0009561 Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Osteolytic defects of the outermost bone of the 2nd finger https://orcid.org/0000-0001-5208-3432 Uneven (irregular) increase in bone density of the distal phalanx of the second finger. 2009-01-28T04:16:02Z UMLS:C4024290 Uneven increase in bone density in the outermost bone of the 2nd finger human_phenotype HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger HP:0009562 Uneven (irregular) increase in bone density of the distal phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of the 2nd finger https://orcid.org/0000-0001-5208-3432 Bony fusion of the terminal/distal and middle phalanges of the 2nd finger. 2009-01-28T04:16:02Z HP:0009567 HP:0009578 UMLS:C4021440 Fused outermost and middle index finger bones Symphalangism of the distal and middle phalanges of the 2nd finger human_phenotype HP:0009563 Distal second finger symphalangism HP:0009563 Bony fusion of the terminal/distal and middle phalanges of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Fused outermost and middle index finger bones https://orcid.org/0000-0001-5208-3432 Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-28T04:16:02Z UMLS:C4024289 Triangular shaped outermost bone of the 2nd finger human_phenotype HP:0009564 Triangular shaped distal phalanx of the 2nd finger HP:0009564 Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped outermost bone of the 2nd finger https://orcid.org/0000-0001-5208-3432 2009-01-28T04:20:22Z HP:0004141 HP:0005748 UMLS:C4021439 Absent outermost index finger bone Absent terminal index finger phalanx human_phenotype HP:0009565 Aplasia of the distal phalanx of the 2nd finger HP:0009565 Absent outermost index finger bone https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. 2009-01-28T04:20:22Z HP:0004145 UMLS:C4021438 Hypoplastic terminal index finger phalanx Hypoplastic/small distal phalanx of the 2nd finger Short distal phalanx of the second finger Short outermost bone of the index finger Short terminal index finger phalanx human_phenotype HP:0009566 Short distal phalanx of the 2nd finger HP:0009566 Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 Short outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 true HP:0009567 2009-01-28T05:10:24Z HP:0006221 UMLS:C1862144 Absent/hypoplastic middle phalanx of 2nd finger Absent/small middle index finger bone Absent/underdeveloped middle index finger bone Hypoplastic/aplastic middle phalanx of index finger human_phenotype HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger HP:0009568 Absent/small middle index finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle index finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the middle phalanx of the second finger. 2009-01-28T05:10:24Z UMLS:C4024288 Broad middle bone of the index finger human_phenotype HP:0009569 Broad middle phalanx of the 2nd finger HP:0009569 Increased width of the middle phalanx of the second finger. https://orcid.org/0009-0006-4530-3154 Broad middle bone of the index finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. 2009-01-28T05:10:24Z UMLS:C4024287 Bullet-shaped middle bone of index finger human_phenotype HP:0009570 Bullet-shaped middle phalanx of the 2nd finger HP:0009570 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of index finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the middle phalanx of the 2nd finger. 2009-01-28T05:10:24Z UMLS:C4024286 Curved middle bone of the index finger human_phenotype HP:0009571 Curved middle phalanx of the 2nd finger HP:0009571 Curved appearance of the middle phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Curved middle bone of the index finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. 2009-01-28T05:10:24Z HP:0004134 UMLS:C4021437 Lytic defects of middle index finger phalanx human_phenotype HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger HP:0009572 Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the middle phalanx of the second finger. 2009-01-28T05:10:24Z UMLS:C4024285 Uneven increase in bone density in the middle bone of the index finger human_phenotype HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger HP:0009573 Uneven (irregular) increase in bone density of the middle phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 HP:0009545 2009-01-28T05:10:24Z human_phenotype HP:0009574 obsolete Symphalangism of middle phalanx of 2nd finger true HP:0009574 Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-28T05:10:24Z UMLS:C4024283 Triangular shaped middle bone of index finger human_phenotype HP:0009575 Triangular shaped middle phalanx of the 2nd finger HP:0009575 Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped middle bone of index finger https://orcid.org/0000-0001-5208-3432 Absence of the middle phalanx of the index (2nd) finger. 2009-01-28T05:15:55Z HP:0005760 UMLS:C4021436 Absent middle bone of index finger Absent middle phalanx of index finger Aplasia of the middle phalanx of the 2nd finger human_phenotype HP:0009576 Absent middle phalanx of 2nd finger HP:0009576 Absence of the middle phalanx of the index (2nd) finger. https://orcid.org/0000-0002-0736-9199 Absent middle bone of index finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. 2009-01-28T05:15:55Z HP:0004133 UMLS:C4021435 Brachymesophalangy II (finger) Hypoplastic middle index finger phalanx Hypoplastic/small middle phalanx of the 2nd finger Short middle bone of index finger human_phenotype HP:0009577 Short middle phalanx of the 2nd finger HP:0009577 Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. https://orcid.org/0009-0006-4530-3154 Short middle bone of index finger https://orcid.org/0000-0001-5208-3432 true HP:0009578 Fusion of the proximal and middle phalanges of the 2nd finger. 2009-01-28T05:23:12Z HP:0009586 UMLS:C4024282 Fused innermost and middle index finger bones human_phenotype HP:0009579 Proximal second finger symphalangism HP:0009579 Fusion of the proximal and middle phalanges of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Fused innermost and middle index finger bones https://orcid.org/0000-0001-5208-3432 2009-01-28T05:26:39Z UMLS:C4024281 Absent/small innermost index finger bone Absent/underdeveloped innermost index finger bone human_phenotype HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger HP:0009580 Absent/small innermost index finger bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost index finger bone https://orcid.org/0000-0001-5208-3432 Increased width of the proximal phalanx of the 2nd finger. 2009-01-28T05:26:39Z HP:0004126 UMLS:C4021434 Wide innermost bone of index finger Wide/broad proximal index finger phalanx human_phenotype HP:0009581 Broad proximal phalanx of the 2nd finger HP:0009581 Increased width of the proximal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Wide innermost bone of index finger https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. 2009-01-28T05:26:39Z UMLS:C4024280 Bullet-shaped innermost bone of index finger human_phenotype HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger HP:0009582 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost bone of index finger https://orcid.org/0000-0001-5208-3432 Curved appearance of the proximal phalanx of the 2nd finger. 2009-01-28T05:26:39Z UMLS:C4024279 Curved innermost bone of index finger human_phenotype HP:0009583 Curved proximal phalanx of the 2nd finger HP:0009583 Curved appearance of the proximal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of index finger https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. 2009-01-28T05:26:39Z HP:0004123 UMLS:C4021433 Lytic defects of proximal index finger phalanx human_phenotype HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger HP:0009584 Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. 2009-01-28T05:26:39Z UMLS:C4024278 Uneven increase in bone density in innermost index finger bone human_phenotype HP:0009585 Patchy sclerosis of the proximal phalanx of the 2nd finger HP:0009585 Uneven (irregular) increase in bone density of the proximal phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in innermost index finger bone https://orcid.org/0000-0001-5208-3432 HP:0009579 2009-01-28T05:26:39Z human_phenotype HP:0009586 obsolete Symphalangism affecting the proximal phalanx of the 2nd finger true HP:0009586 Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-28T05:26:39Z HP:0004125 UMLS:C4021432 Triangular proximal index finger phalanx Triangular shaped innermost bone of index finger human_phenotype HP:0009587 Triangular shaped proximal phalanx of the 2nd finger HP:0009587 Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped innermost bone of index finger https://orcid.org/0000-0001-5208-3432 A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. 2009-01-28T10:37:32Z NCIT:C3269 SNOMEDCT_US:126949007 SNOMEDCT_US:985004 UMLS:C0027859 Acoustic Neuroma Vestibular Schwann cell tumor Vestibular Schwann cell tumour Vestibular neurilemmoma Vestibular neurinoma Vestibular neurolemmoma human_phenotype HP:0009588 Vestibular schwannoma HP:0009588 A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. https://orcid.org/0000-0002-0736-9199 Vestibular Schwann cell tumour A bilateral vestibular schwannoma (acoustic neurinoma). 2009-01-28T10:39:14Z UMLS:C1136042 Bilateral acoustic neuromas human_phenotype HP:0009589 Bilateral vestibular schwannoma HP:0009589 A bilateral vestibular schwannoma (acoustic neurinoma). https://orcid.org/0000-0002-0736-9199 A unilateral vestibular schwannoma (acoustic neurinoma). 2009-01-28T10:40:23Z UMLS:C1863653 human_phenotype HP:0009590 Unilateral vestibular schwannoma HP:0009590 A unilateral vestibular schwannoma (acoustic neurinoma). https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. 2009-01-28T10:42:57Z UMLS:C4021431 Abnormal eighth cranial nerve morphology Abnormality of the VIIIth cranial nerve Abnormality of the vestibulocochlear nerve human_phenotype HP:0009591 Abnormal vestibulocochlear nerve morphology HP:0009591 Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. PMID:30726044 https://orcid.org/0000-0002-0736-9199 Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. 2009-01-28T10:51:01Z SNOMEDCT_US:38713004 UMLS:C0004114 human_phenotype HP:0009592 Astrocytoma HP:0009592 Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. https://orcid.org/0000-0002-0736-9199 The presence of a peripheral schwannoma. 2009-01-28T10:55:58Z UMLS:C4024276 human_phenotype HP:0009593 A Peripheral schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. Peripheral schwannoma HP:0009593 The presence of a peripheral schwannoma. https://orcid.org/0000-0002-0736-9199 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. 2009-01-28T10:58:47Z UMLS:C1863411 human_phenotype HP:0009594 Retinal hamartoma HP:0009594 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. https://orcid.org/0000-0002-0736-9199 HP:0001067 2009-01-28T11:12:19Z human_phenotype HP:0009595 obsolete Occasional neurofibromas true HP:0009595 Absence of the proximal phalanx of the 2nd finger. 2009-01-29T10:19:36Z UMLS:C4024275 Absent innermost bone of index finger human_phenotype HP:0009596 Aplasia of the proximal phalanx of the 2nd finger HP:0009596 Absence of the proximal phalanx of the 2nd finger. https://orcid.org/0000-0002-0736-9199 Absent innermost bone of index finger https://orcid.org/0000-0001-5208-3432 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. 2009-01-29T10:19:36Z HP:0004124 UMLS:C4021430 Hypoplastic/small proximal phalanx of the 2nd finger Short proximal index finger phalanx Short proximal phalanx of the second finger human_phenotype HP:0009597 Short proximal phalanx of the 2nd finger HP:0009597 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. https://orcid.org/0009-0006-4530-3154 Congenital fusion of the second metacarpal bone with the proximal phalanx of the second finger. 2009-01-29T10:21:45Z UMLS:C4024274 Fused innermost bone of index finger with 2nd long bone of hand human_phenotype HP:0009598 Second ray metacarpophalangeal synostosis HP:0009598 Congenital fusion of the second metacarpal bone with the proximal phalanx of the second finger. https://orcid.org/0000-0002-0736-9199 Fused innermost bone of index finger with 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. 2009-01-29T11:46:15Z HP:0004074 UMLS:C4021429 Abnormality of end part of thumb long bone Abnormality of the epiphyses of the thumb Abnormality of thumb epiphyses human_phenotype HP:0009599 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). Abnormality of thumb epiphysis HP:0009599 Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of thumb long bone https://orcid.org/0000-0001-5208-3432 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. 2009-01-29T01:06:31Z HP:0004061 HP:0006043 SNOMEDCT_US:239736003 UMLS:C0409346 Contracture of thumb Flexion deformities of thumbs Joint contractures of the thumb Thumb joint contracture human_phenotype HP:0009600 Thumb contracture HP:0009600 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. PMID:16214063 PMID:24975760 PMID:31282072 https://orcid.org/0000-0002-0736-9199 Hypoplastic/small or absent thumb. 2009-01-29T01:08:24Z HP:0002950 HP:0006225 UMLS:C3179508 Absent or hypoplastic thumbs Absent/hypoplastic thumb Absent/hypoplastic thumbs Absent/small thumb Absent/underdeveloped thumb Aplasia/hypoplasia of thumbs Aplastic/hypoplastic thumbs Hypoplastic to aplastic thumbs Hypoplastic/absent thumb Thumb aplasia/hypoplasia human_phenotype HP:0009601 Aplasia/Hypoplasia of the thumb HP:0009601 Hypoplastic/small or absent thumb. https://orcid.org/0000-0002-0736-9199 Absent/small thumb https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thumb https://orcid.org/0000-0001-5208-3432 A structural anomaly of one or more phalanges of the thumb. 2009-01-29T01:10:39Z HP:0004063 HP:0004064 UMLS:C4021428 Abnormality of the thumb bones Abnormality of thumb phalanges human_phenotype HP:0009602 Abnormality of thumb phalanx HP:0009602 A structural anomaly of one or more phalanges of the thumb. https://orcid.org/0000-0002-0736-9199 Abnormality of the thumb bones https://orcid.org/0000-0001-5208-3432 Displacement of the thumb from its normal position. 2009-01-29T01:49:57Z HP:0004062 UMLS:C3552414 Abnormal thumb placement Deviated thumb Displacement of the thumb human_phenotype HP:0009603 Deviation of the thumb HP:0009603 Displacement of the thumb from its normal position. https://orcid.org/0000-0002-0736-9199 Abnormal thumb placement https://orcid.org/0000-0001-5208-3432 true HP:0009604 true HP:0009605 Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. 2009-01-29T03:28:16Z HP:0004084 HP:0005784 UMLS:C4021427 Complete duplication of outermost bone of the thumb human_phenotype HP:0009606 Complete duplication of distal phalanx of the thumb HP:0009606 Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. https://orcid.org/0000-0002-0736-9199 Complete duplication of outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 true HP:0009607 Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T03:32:28Z HP:0004078 UMLS:C4024273 Complete duplication of the innermost bone of the thumb human_phenotype HP:0009608 Complete duplication of proximal phalanx of the thumb HP:0009608 Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Complete duplication of the innermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Partail or complete duplication of the first metacarpal bone. 2009-01-29T03:33:31Z UMLS:C4021426 Partial/complete duplication of the 1st long bone of hand Partial/complete duplication of the 1st metacarpal human_phenotype HP:0009609 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. Duplication of the 1st metacarpal HP:0009609 Partail or complete duplication of the first metacarpal bone. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0009610 Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. 2009-01-29T03:48:49Z HP:0004086 HP:0005703 HP:0005827 HP:0005848 HP:0006090 UMLS:C1860162 Bifid distal phalanx of thumb Bifid terminal phalanges of thumbs Bifid thumb distal phalanx Incipient distal thumb phalanx duplication Notched outermost bone of the thumb Notched outermost bone of thumb Notched terminal thumb phalanx human_phenotype HP:0009611 Note that with bifid distal phalanx, the terminal phalanx of the thumb is clefted but is still one bone. With duplication of the terminal phalanx of the thumb, the distal phalanx is split into two bones that are located side by side. With triphalangeal thumb, the thumb has three phalanxes located one after the other. Bifid distal phalanx of the thumb HP:0009611 Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. https://orcid.org/0009-0006-4530-3154 Notched outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. 2009-01-29T03:51:43Z UMLS:C4021425 Double thumb distal phalanges Duplicated terminal phalanx of thumb Duplication of distal thumb phalanx Duplication of terminal thumb phalanx Duplication of the outermost bone of the thumb Partial/complete duplication of the distal phalanx of the thumb human_phenotype HP:0009612 Duplication of the distal phalanx of the thumb HP:0009612 Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. https://orcid.org/0009-0006-4530-3154 Duplication of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T03:59:56Z UMLS:C4021424 Notched innermost bone of thumb Partial/complete duplication of the proximal phalanx of the thumb human_phenotype HP:0009613 Duplication of the proximal phalanx of the thumb HP:0009613 Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0009-0006-4530-3154 Notched innermost bone of thumb https://orcid.org/0000-0001-5208-3432 This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T04:01:27Z UMLS:C4024272 Notched thumb bone human_phenotype HP:0009614 Bifid proximal phalanx of the thumb HP:0009614 This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Notched thumb bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the first metacarpal bone. 2009-01-29T04:06:17Z UMLS:C4024271 Complete duplication of the first long bone of hand human_phenotype HP:0009615 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. Complete duplication of the first metacarpal HP:0009615 Complete duplication of the first metacarpal bone. https://orcid.org/0000-0002-0736-9199 Complete duplication of the first long bone of hand https://orcid.org/0000-0001-5208-3432 Partial duplication of the first metacarpal bone. 2009-01-29T04:06:17Z UMLS:C4021423 Notched first long bone of hand partial duplication of the first metacarpal human_phenotype HP:0009616 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. Bifid first metacarpal HP:0009616 Partial duplication of the first metacarpal bone. https://orcid.org/0000-0002-0736-9199 Notched first long bone of hand https://orcid.org/0000-0001-5208-3432 Any anomaly of the distal phalanx of thumb. 2009-01-29T04:13:47Z HP:0004081 UMLS:C4021422 Abnormality of terminal thumb phalanx Abnormality of the outermost bone of the thumb human_phenotype HP:0009617 Abnormality of the distal phalanx of the thumb HP:0009617 Any anomaly of the distal phalanx of thumb. https://orcid.org/0000-0002-0736-9199 Abnormality of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 An anomaly of the shape or form of the proximal phalanx of the thumb. 2009-01-29T04:13:47Z HP:0004076 UMLS:C4021421 Abnormal innermost thumb bone Abnormality of proximal thumb phalanx human_phenotype HP:0009618 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Abnormality of the proximal phalanx of the thumb HP:0009618 An anomaly of the shape or form of the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Abnormal innermost thumb bone https://orcid.org/0000-0001-5208-3432 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 true HP:0009619 HP:0001234 human_phenotype HP:0009620 obsolete Radial deviation of the thumb true HP:0009620 HP:0009602 human_phenotype HP:0009621 obsolete Ulnar deviation of the thumb true HP:0009621 Insertion of thumb at a more distal location than normal. 2009-01-29T04:40:23Z HP:0005755 UMLS:C4024270 human_phenotype HP:0009622 Distally placed thumb HP:0009622 Insertion of thumb at a more distal location than normal. https://orcid.org/0000-0002-0736-9199 Proximal mislocalization of the thumb. 2009-01-29T04:40:23Z HP:0001170 HP:0005668 UMLS:C1865572 Attachment of thumb close to wrist Low implantation of the thumb Low-set thumb Proximally placed thumbs human_phenotype HP:0009623 Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. Proximal placement of thumb HP:0009623 Proximal mislocalization of the thumb. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Attachment of thumb close to wrist https://orcid.org/0000-0002-6548-5200 Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. 2009-01-29T04:52:18Z UMLS:C4024269 Contracture of the carpometacarpal joint of the thumb human_phenotype HP:0009624 Carpometacarpal thumb joint contracture HP:0009624 Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. 2009-01-29T04:52:18Z UMLS:C2108151 Contracture of the metacarpophalangeal joint of the thumb human_phenotype HP:0009625 Metacarpophalangeal thumb joint contracture HP:0009625 Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. 2009-01-29T04:52:18Z HP:0005697 UMLS:C2108146 Contracture of the interphalangeal joint of the thumb Interphalangeal extension contractures of thumbs human_phenotype HP:0009626 Interphalangeal thumb joint contracture HP:0009626 Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. https://orcid.org/0000-0002-0736-9199 true HP:0009627 true HP:0009628 This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T05:09:41Z UMLS:C4024268 Absent/small innermost thumb bone Absent/underdeveloped innermost thumb bone human_phenotype HP:0009629 Aplasia/Hypoplasia of the proximal phalanx of the thumb HP:0009629 This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Absent/small innermost thumb bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost thumb bone https://orcid.org/0000-0001-5208-3432 Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T05:09:41Z UMLS:C4024267 Broad innermost thumb bone human_phenotype HP:0009630 Broad proximal phalanx of the thumb HP:0009630 Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Broad innermost thumb bone https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. 2009-01-29T05:09:41Z UMLS:C4024266 Bullet-shaped innermost thumb bone human_phenotype HP:0009631 Bullet-shaped proximal phalanx of the thumb HP:0009631 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost thumb bone https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of the proximal phalanx of the thumb. 2009-01-29T05:09:41Z UMLS:C4024265 Curved innermost thumb bone human_phenotype HP:0009632 Curved proximal phalanx of the thumb HP:0009632 A deviation from the normal straight shape of the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Curved innermost thumb bone https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. 2009-01-29T05:09:41Z UMLS:C4021420 Osteolytic defects of the proximal phalanx of the thumb human_phenotype HP:0009633 Osteolytic defect of the proximal phalanx of the thumb HP:0009633 Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 An uneven increase in bone density of the proximal phalanx of the thumb. 2009-01-29T05:09:41Z UMLS:C4024264 Uneven increase in bone density in the innermost thumb bone human_phenotype HP:0009634 Patchy sclerosis of the proximal phalanx of the thumb HP:0009634 An uneven increase in bone density of the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost thumb bone https://orcid.org/0000-0001-5208-3432 Fusion of a phalanx of the thumb with another bone. 2009-01-29T05:09:41Z UMLS:C4024263 Fusion of thumb bone human_phenotype HP:0009635 Synostosis of thumb phalanx HP:0009635 Fusion of a phalanx of the thumb with another bone. https://orcid.org/0000-0002-0736-9199 Fusion of thumb bone https://orcid.org/0000-0001-5208-3432 Triangular shaped proximal phalanx of the thumb. 2009-01-29T05:09:41Z HP:0004080 UMLS:C4021419 Triangular innermost thumb bone Triangular proximal thumb phalanx human_phenotype HP:0009636 Triangular shaped proximal phalanx of the thumb HP:0009636 Triangular shaped proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Triangular innermost thumb bone https://orcid.org/0000-0001-5208-3432 Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T05:11:02Z HP:0004077 UMLS:C4021418 Absent innermost thumb bone Absent ossification/absent proximal thumb phalanx Aplasia of the proximal phalanx of the thumb human_phenotype HP:0009637 Absent proximal phalanx of thumb HP:0009637 Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Absent innermost thumb bone https://orcid.org/0000-0001-5208-3432 Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T05:11:02Z HP:0004079 HP:0006073 UMLS:C1855091 Hypoplastic/small proximal phalanx of the thumb Short proximal phalanges of thumb Short proximal thumb bone Short proximal thumb phalanx human_phenotype HP:0009638 Short proximal phalanx of thumb HP:0009638 Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Short proximal thumb bone https://orcid.org/0000-0001-5889-4463 true HP:0009639 Congenital fusion of the first metacarpal bone with the proximal phalanx of the thumb. 2009-01-29T05:17:08Z UMLS:C4024262 Ankylosis of the metacarpophalangeal joint of the thumb Fusion of the innermost bone of the thumb with the 1st long bone of hand human_phenotype HP:0009640 First ray metacarpophalangeal synostosis HP:0009640 Congenital fusion of the first metacarpal bone with the proximal phalanx of the thumb. PMID:26571461 https://orcid.org/0000-0002-0736-9199 Fusion of the innermost bone of the thumb with the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 2009-01-29T05:19:33Z UMLS:C4024261 Absent/small outermost thumb bone Absent/underdeveloped outermost thumb bone human_phenotype HP:0009641 Aplasia/Hypoplasia of the distal phalanx of the thumb HP:0009641 Absent/small outermost thumb bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost thumb bone https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of thumb. 2009-01-29T05:19:33Z HP:0004088 HP:0006198 UMLS:C1863402 Broad outermost bone of the thumb Broad terminal thumb phalanx Wide distal phalanx of thumb Wide outermost bone of thumb human_phenotype HP:0009642 Broad distal phalanx of the thumb HP:0009642 Increased width of the distal phalanx of thumb. https://orcid.org/0009-0006-4530-3154 Broad outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Wide outermost bone of thumb https://orcid.org/0000-0001-5208-3432 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. 2009-01-29T05:19:33Z UMLS:C4024260 Bullet-shaped outermost bone of the thumb human_phenotype HP:0009643 Bullet-shaped distal phalanx of the thumb HP:0009643 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of the distal phalanx of the thumb. 2009-01-29T05:19:33Z UMLS:C4024259 Curved outermost bone of the thumb human_phenotype HP:0009644 Curved distal phalanx of the thumb HP:0009644 A deviation from the normal straight shape of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. 2009-01-29T05:19:33Z UMLS:C4021417 Osteolytic defects of the distal phalanx of the thumb Osteolytic defects of the outermost bone of the thumb human_phenotype HP:0009645 Osteolytic defect of the distal phalanx of the thumb HP:0009645 Dissolution or degeneration of bone tissue of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Osteolytic defects of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 An uneven increase in bone density of the distal phalanx of the thumb. 2009-01-29T05:19:33Z UMLS:C4024258 Uneven increase in bone density in the outermost bone of the thumb human_phenotype HP:0009646 Patchy sclerosis of the distal phalanx of the thumb HP:0009646 An uneven increase in bone density of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 true HP:0009647 Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. 2009-01-29T05:19:33Z UMLS:C4024257 Triangular shaped outermost bone of the thumb human_phenotype HP:0009648 Triangular shaped distal phalanx of the thumb HP:0009648 Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. https://orcid.org/0000-0002-0736-9199 Triangular shaped outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Absence of the distal/terminal phalanx of the thumb. 2009-01-29T05:22:06Z HP:0004082 UMLS:C4021416 Absence of the outermost bone of the thumb Absent ossification/absent terminal thumb phalanx Aplasia of the outermost bone of the thumb human_phenotype HP:0009649 Aplasia of the distal phalanx of the thumb HP:0009649 Absence of the distal/terminal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Absence of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Aplasia of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Hypoplastic (short) distal phalanx of the thumb. 2009-01-29T05:22:06Z HP:0004085 HP:0004087 UMLS:C1862313 Hypoplastic terminal thumb phalanx Hypoplastic/small distal phalanx of the thumb Short outermost bone of the thumb Short terminal thumb phalanx Short thumb terminal phalanx Small terminal thumb phalanx human_phenotype HP:0009650 Short distal phalanx of the thumb HP:0009650 Hypoplastic (short) distal phalanx of the thumb. https://orcid.org/0009-0006-4530-3154 Short outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 true HP:0009651 An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-01-29T05:29:26Z UMLS:C4021415 Bullet-shaped phalanges of the thumb Bullet-shaped thumb bone human_phenotype HP:0009652 Bullet-shaped thumb phalanx HP:0009652 An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped thumb bone https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of a thumb phalanx. 2009-01-29T05:29:26Z UMLS:C4021414 Curved phalanges of the thumb Curved thumb bone human_phenotype HP:0009653 Curved thumb phalanx HP:0009653 A deviation from the normal straight shape of a thumb phalanx. https://orcid.org/0000-0002-0736-9199 Curved thumb bone https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. 2009-01-29T05:29:26Z UMLS:C4020905 Osteolytic defects of the phalanges of the thumb human_phenotype HP:0009654 Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). Osteolytic defect of thumb phalanx HP:0009654 Dissolution or degeneration of bone tissue of one or more phalanges of the thumb. https://orcid.org/0000-0002-0736-9199 An uneven increase in bone density of one or more of the phalanges of the thumb. 2009-01-29T05:29:26Z UMLS:C4021413 Patchy sclerosis of the phalanges of the thumb Uneven increase in bone density in thumb bone human_phenotype HP:0009655 Patchy sclerosis of thumb phalanx HP:0009655 An uneven increase in bone density of one or more of the phalanges of the thumb. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in thumb bone https://orcid.org/0000-0001-5208-3432 Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. 2009-01-29T05:29:26Z HP:0004068 HP:0009639 HP:0009647 UMLS:C1834032 Fused thumb bones Fused thumb phalanges Symphalangism of the distal and proximal phalanges of the thumb human_phenotype HP:0009656 Symphalangism is caused by a failure of segmentation that occurs during early fetal development. Thumb symphalangism HP:0009656 Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. PMID:22379556 https://orcid.org/0000-0002-0736-9199 Fused thumb bones https://orcid.org/0000-0001-5208-3432 Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. 2009-01-29T05:29:26Z HP:0004072 UMLS:C4021412 Triangular shaped phalanges of the thumb Triangular shaped thumb bone Triangular thumb phalanges human_phenotype HP:0009657 A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). Triangular shaped thumb phalanx HP:0009657 Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle. https://orcid.org/0000-0002-0736-9199 Triangular shaped thumb bone https://orcid.org/0000-0001-5208-3432 2009-01-29T05:29:26Z HP:0005834 UMLS:C4024256 Absent/small thumb bones Absent/underdeveloped thumb bones human_phenotype HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb HP:0009658 Absent/small thumb bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thumb bones https://orcid.org/0000-0001-5208-3432 The absence of a phalangeal segment of a thumb. 2009-01-29T05:35:50Z HP:0004065 UMLS:C4020780 UMLS:C4024255 Partial absence of thumb human_phenotype Aplasia of the phalanges of the thumb HP:0009659 Partial absence of thumb HP:0009659 The absence of a phalangeal segment of a thumb. PMID:probinson Partial absence of thumb Hypoplastic (short) thumb phalanx. 2009-01-29T05:35:50Z HP:0004069 HP:0004071 UMLS:C4021411 Hypoplastic thumb phalanges Hypoplastic/small phalanges of the thumb Short thumb bone Short thumb phalanges human_phenotype HP:0009660 Short phalanx of the thumb HP:0009660 Hypoplastic (short) thumb phalanx. https://orcid.org/0000-0002-0736-9199 Short thumb bone https://orcid.org/0000-0001-5208-3432 true HP:0009661 Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. 2009-01-29T05:49:31Z HP:0004089 UMLS:C4021410 Abnormality of terminal thumb epiphysis Abnormality of the end part of the outermost bone of the thumb human_phenotype HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-29T05:49:31Z UMLS:C4024254 Abnormality of end part of thumb innermost long bone human_phenotype HP:0009663 Abnormality of the epiphysis of the proximal phalanx of the thumb HP:0009663 This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024253 Absent end part of thumb innermost long bone human_phenotype HP:0009664 Absent epiphysis of the proximal phalanx of the thumb HP:0009664 Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Absent end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-30T09:17:13Z UMLS:C4024252 Bracket shaped end part of thumb innermost long bone human_phenotype HP:0009665 Bracket epiphysis of the proximal phalanx of the thumb HP:0009665 An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024251 Cone-shaped end part of thumb innermost long bone human_phenotype HP:0009666 Cone-shaped epiphysis of the proximal phalanx of the thumb HP:0009666 A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024250 Enlarged end part of thumb innermost long bone human_phenotype HP:0009667 Enlarged epiphysis of the proximal phalanx of the thumb HP:0009667 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Enlarged end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. 2009-01-30T09:17:13Z UMLS:C4024249 Fragmentation of end part of thumb innermost long bone human_phenotype HP:0009668 Fragmentation of the epiphysis of the proximal phalanx of the thumb HP:0009668 Epiphysis of the proximal phalanx of the thumb having multiple bony fragments. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024248 Irregular end part of thumb innermost long bone human_phenotype HP:0009669 Irregular epiphysis of the proximal phalanx of the thumb HP:0009669 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Irregular end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-30T09:17:13Z UMLS:C4024247 Increased bone density of end part of the innermost bone of the thumb human_phenotype HP:0009670 Ivory epiphysis of the proximal phalanx of the thumb HP:0009670 Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the innermost bone of the thumb https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. 2009-01-30T09:17:13Z UMLS:C4024246 human_phenotype HP:0009671 Pseudoepiphysis of the proximal phalanx of the thumb HP:0009671 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. 2009-01-30T09:17:13Z UMLS:C4024245 Small end part of thumb innermost long bone human_phenotype HP:0009672 Small epiphysis of the proximal phalanx of the thumb HP:0009672 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024244 Speckled calcifications in end part of thumb innermost long bone human_phenotype HP:0009673 Stippling of the epiphysis of the proximal phalanx of the thumb HP:0009673 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T09:17:13Z UMLS:C4024243 Triangular end part of thumb innermost long bone human_phenotype HP:0009674 Triangular epiphysis of the proximal phalanx of the thumb HP:0009674 A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Triangular end part of thumb innermost long bone https://orcid.org/0000-0001-5208-3432 Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. 2009-01-30T09:18:09Z UMLS:C4024242 Absent end part of thumb outermost long bone human_phenotype HP:0009675 Absent epiphysis of the distal phalanx of the thumb HP:0009675 Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Absent end part of thumb outermost long bone https://orcid.org/0000-0001-5208-3432 An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-30T09:18:09Z UMLS:C4024241 Bracket shaped end part of thumb outermost long bone human_phenotype HP:0009676 Bracket epiphysis of the distal phalanx of the thumb HP:0009676 An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of thumb outermost long bone https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. 2009-01-30T09:18:09Z HP:0004091 UMLS:C4021409 Cone-shaped end part of thumb outermost long bone Cone-shaped terminal thumb phalanx epiphysis human_phenotype HP:0009677 Cone-shaped epiphysis of the distal phalanx of the thumb HP:0009677 A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of thumb outermost long bone https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. 2009-01-30T09:18:09Z HP:0004092 UMLS:C4021408 Enlarged end part of thumb outermost long bone Large terminal thumb phalanx epiphysis human_phenotype HP:0009678 Enlarged epiphysis of the distal phalanx of the thumb HP:0009678 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of thumb outermost long bone https://orcid.org/0000-0001-5208-3432 Epiphysis of the distal phalanx of the thumb having multiple bony fragments. 2009-01-30T09:18:09Z UMLS:C4024240 Fragmentation of end part thumb outermost long bone human_phenotype HP:0009679 Fragmentation of the epiphysis of the distal phalanx of the thumb HP:0009679 Epiphysis of the distal phalanx of the thumb having multiple bony fragments. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part thumb outermost long bone https://orcid.org/0000-0001-5208-3432 Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. 2009-01-30T09:18:09Z UMLS:C4024239 Irregular end part of thumb outermost bone human_phenotype HP:0009680 Irregular epiphysis of the distal phalanx of the thumb HP:0009680 Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Irregular end part of thumb outermost bone https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-30T09:18:09Z UMLS:C4024238 Increased bone density of end part of the outermost bone of the thumb human_phenotype HP:0009681 Ivory epiphysis of the distal phalanx of the thumb HP:0009681 Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. 2009-01-30T09:18:09Z UMLS:C4024237 Pseudoepiphysis of the outermost bone of the thumb human_phenotype HP:0009682 Pseudoepiphysis of the distal phalanx of the thumb HP:0009682 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Pseudoepiphysis of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. 2009-01-30T09:18:09Z UMLS:C4024236 Small end part of thumb outermost bone human_phenotype HP:0009683 Small epiphysis of the distal phalanx of the thumb HP:0009683 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of thumb outermost bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. 2009-01-30T09:18:09Z UMLS:C4024235 Speckled calcifications in the end part of the outermost thumb bone human_phenotype HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb HP:0009684 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost thumb bone https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. 2009-01-30T09:18:09Z UMLS:C4024234 Triangular end part of thumb outermost bone Triangular epiphysis of the outermost bone of the thumb human_phenotype HP:0009685 Triangular epiphysis of the distal phalanx of the thumb HP:0009685 A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. https://orcid.org/0000-0002-0736-9199 Triangular end part of thumb outermost bone https://orcid.org/0000-0001-5208-3432 Triangular epiphysis of the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 Absence of one or more epiphyses of the thumb. 2009-01-30T09:20:16Z UMLS:C4024233 human_phenotype HP:0009686 Absent epiphyses of the thumb HP:0009686 Absence of one or more epiphyses of the thumb. https://orcid.org/0000-0002-0736-9199 An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-01-30T09:20:16Z UMLS:C4024232 Bracket shaped end part of the thumb bone human_phenotype HP:0009687 Bracket epiphyses of the thumb HP:0009687 An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of the thumb bone https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-01-30T09:20:16Z HP:0004075 UMLS:C4021407 Cone-shaped end part of thumb long bone Cone-shaped epiphyses of the thumb Cone-shaped thumb epiphyses human_phenotype HP:0009688 Cone-shaped epiphysis of the thumb HP:0009688 A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of thumb long bone https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. 2009-01-30T09:20:16Z UMLS:C4021406 Enlarged end part of thumb long bone Enlarged epiphyses of the thumb human_phenotype HP:0009689 Enlarged thumb epiphysis HP:0009689 Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of thumb long bone https://orcid.org/0000-0001-5208-3432 Epiphysis of the thumb having multiple bony fragments. 2009-01-30T09:20:16Z UMLS:C4021405 Fragmentation of end part of long bone of thumb Fragmentation of the epiphyses of the thumb human_phenotype HP:0009690 Fragmentation of thumb epiphysis HP:0009690 Epiphysis of the thumb having multiple bony fragments. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of long bone of thumb https://orcid.org/0000-0001-5889-4463 Uneven radiographic opacity of the one or more epiphyses of the thumb. 2009-01-30T09:20:16Z UMLS:C4021404 Irregular end part of thumb long bone Irregular epiphyses of the thumb human_phenotype HP:0009691 Irregular thumb epiphysis HP:0009691 Uneven radiographic opacity of the one or more epiphyses of the thumb. https://orcid.org/0000-0002-0736-9199 Irregular end part of thumb long bone https://orcid.org/0000-0001-5889-4463 Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-01-30T09:20:16Z UMLS:C4021403 Increased bone density of end part of the thumb Ivory epiphyses of the thumb human_phenotype HP:0009692 Ivory epiphysis of the thumb HP:0009692 Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the thumb https://orcid.org/0000-0001-5889-4463 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. 2009-01-30T09:20:16Z UMLS:C3552484 Pseudoepiphyses of the thumb human_phenotype HP:0009693 Pseudoepiphysis of the thumb HP:0009693 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. https://orcid.org/0000-0002-0736-9199 Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. 2009-01-30T09:20:16Z UMLS:C4021402 Small end part of thumb long bone Small epiphyses of the thumb human_phenotype HP:0009694 Small thumb epiphysis HP:0009694 Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of thumb long bone https://orcid.org/0000-0001-5889-4463 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. 2009-01-30T09:20:16Z UMLS:C4021401 Speckled calcifications in end part of thumb bone Stippling of the epiphyses of the thumb human_phenotype HP:0009695 Stippling of thumb epiphysis HP:0009695 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of thumb bone https://orcid.org/0000-0001-5208-3432 2009-01-30T09:20:16Z UMLS:C4024231 Triangular end part of the thumb bone human_phenotype HP:0009696 Triangular epiphyses of the thumb HP:0009696 Triangular end part of the thumb bone https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. 2009-01-30T04:01:28Z UMLS:C4024230 human_phenotype HP:0009697 Contracture of the distal interphalangeal joint of the fingers HP:0009697 Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. https://orcid.org/0000-0002-0736-9199 true HP:0009698 2009-01-30T04:08:52Z HP:0004282 HP:0006082 UMLS:C4021400 Lytic defects of hand bones human_phenotype HP:0009699 Osteolytic defects of the hand bones HP:0009699 An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. 2009-01-30T04:12:24Z HP:0006187 HP:0006258 HP:0009773 HP:0009849 HP:0009872 UMLS:C4021399 Fused finger bones Symphalangism of the hand Synostosis involving bones of the fingers human_phenotype HP:0009700 Finger symphalangism HP:0009700 An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. PMID:10627733 https://orcid.org/0009-0006-4530-3154 Fused finger bones https://orcid.org/0000-0001-5208-3432 Symphalangism of the hand https://orcid.org/0000-0002-0736-9199 Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). 2009-01-30T04:13:07Z HP:0005915 HP:0006041 UMLS:C4021398 Fused long bones of hand Synostosis involving metacarpal bones Synostosis involving the metacarpal bones human_phenotype HP:0009701 Metacarpal synostosis HP:0009701 Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). https://orcid.org/0000-0002-0736-9199 Fused long bones of hand https://orcid.org/0000-0001-5208-3432 Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). 2009-01-30T04:25:10Z HP:0001192 HP:0005799 Fused wrist bones SNOMEDCT_US:253930002 UMLS:C0431863 Carpal bone fusion Carpal fusion Fused carpal bones Fusion of carpal bones Synostosis involving the carpal bones human_phenotype HP:0009702 Carpal synostosis HP:0009702 Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). https://orcid.org/0000-0002-0736-9199 Fused wrist bones https://orcid.org/0000-0001-5208-3432 Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-01-30T04:26:41Z HP:0005614 HP:0010032 UMLS:C4021397 First metacarpophalangeal joint synostosis Fusion involving 1st long bone of hand Symphalangism affecting the 1st metacarpal human_phenotype HP:0009703 Synostosis involving the 1st metacarpal HP:0009703 Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Fusion involving 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. 2009-01-30T06:24:59Z UMLS:C4024229 Chronic cerebrospinal fluid lymphocytosis human_phenotype HP:0009704 Chronic CSF lymphocytosis HP:0009704 Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. https://orcid.org/0000-0002-0736-9199 2009-01-30T04:32:03Z UMLS:C4024228 Fusion involving the 2nd long bone of hand human_phenotype HP:0009705 Synostosis involving the 2nd metacarpal HP:0009705 Fusion involving the 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 2009-01-30T04:32:03Z UMLS:C4024227 Fusion involving the 3rd long bone of hand human_phenotype HP:0009706 Synostosis involving the 3rd metacarpal HP:0009706 Fusion involving the 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 2009-01-30T04:32:03Z UMLS:C4024226 Fusion involving the 4th long bone of hand human_phenotype HP:0009707 Synostosis involving the 4th metacarpal HP:0009707 Fusion involving the 4th long bone of hand https://orcid.org/0000-0001-5208-3432 2009-01-30T04:32:03Z UMLS:C4024225 Fusion involving the 5th long bone of hand human_phenotype HP:0009708 Synostosis involving the 5th metacarpal HP:0009708 Fusion involving the 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). 2009-01-30T06:27:06Z UMLS:C1856983 human_phenotype HP:0009709 Increased CSF interferon alpha HP:0009709 Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). https://orcid.org/0000-0002-0736-9199 Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. 2009-01-30T07:26:24Z UMLS:C4024224 Chilblain lesions human_phenotype HP:0009710 Chilblains HP:0009710 Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. PMID:1832531 PMID:22025653 https://orcid.org/0000-0002-0736-9199 A benign vascular tumor of the retina without any neoplastic characteristics. 2009-01-30T11:08:05Z NCIT:C3801 SNOMEDCT_US:312935003 UMLS:C0730303 UMLS:C1514915 human_phenotype HP:0009711 Retinal capillary hemangioma HP:0009711 A benign vascular tumor of the retina without any neoplastic characteristics. https://orcid.org/0000-0002-0736-9199 true HP:0009712 A hemangioblastoma of the spinal cord. 2009-01-30T11:24:31Z NCIT:C3801 UMLS:C4024223 human_phenotype HP:0009713 Spinal hemangioblastoma HP:0009713 A hemangioblastoma of the spinal cord. https://orcid.org/0000-0002-0736-9199 An abnormality of the epididymis. 2009-01-30T11:44:43Z UMLS:C4024222 Abnormality of the epididymis human_phenotype HP:0009714 The epididymis is the structure that connects efferent ductules to vas deferens. Abnormal epididymis morphology HP:0009714 An abnormality of the epididymis. https://orcid.org/0000-0002-0736-9199 A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. 2009-01-30T11:46:33Z HP:0030422 NCIT:C2974 UMLS:C4024221 human_phenotype HP:0009715 Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. Papillary cystadenoma of the epididymis HP:0009715 A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. PMID:24441657 https://orcid.org/0000-0002-0736-9199 Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. 2009-01-30T11:57:28Z UMLS:C1968958 human_phenotype HP:0009716 Subependymal nodules HP:0009716 Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-1735-8178 Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. 2009-01-31T12:03:16Z UMLS:C1968959 human_phenotype HP:0009717 Cortical tubers HP:0009717 Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. https://orcid.org/0000-0002-0736-9199 A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. 2009-01-31T12:07:02Z SNOMEDCT_US:1586004 SNOMEDCT_US:449799008 UMLS:C0205768 human_phenotype HP:0009718 Subependymal giant-cell astrocytoma HP:0009718 A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. https://orcid.org/0000-0002-0736-9199 Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. 2009-01-31T12:16:52Z UMLS:C4024220 Hypomelanotic macules human_phenotype HP:0009719 While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin. Hypomelanotic macule HP:0009719 Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. PMID:10695583 https://orcid.org/0000-0002-0736-9199 Hypomelanotic macules The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. 2009-01-31T12:19:37Z SNOMEDCT_US:36025004 SNOMEDCT_US:78424008 UMLS:C0265319 UMLS:C1368816 Facial angiofibromas Sebaceous adenoma human_phenotype Sebaceous adenomas HP:0009720 Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. Adenoma sebaceum HP:0009720 The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. https://orcid.org/0000-0002-0736-9199 Sebaceous adenomas https://orcid.org/0000-0002-5316-1399 A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. 2009-01-31T09:36:32Z SNOMEDCT_US:254244007 UMLS:C0432363 human_phenotype HP:0009721 Shagreen patch HP:0009721 A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. PMID:10695583 https://orcid.org/0000-0002-0736-9199 The presence of small depressions in the dental enamel. 2009-01-31T09:44:34Z UMLS:C1860711 Dental enamel pits Dental enamel pitting Pitting of tooth enamel Tooth enamel pits human_phenotype HP:0009722 Dental enamel pits HP:0009722 The presence of small depressions in the dental enamel. https://orcid.org/0000-0002-0736-9199 Dental enamel pits Pitting of tooth enamel https://orcid.org/0000-0001-5889-4463 Tooth enamel pits https://orcid.org/0000-0001-5889-4463 A lesion located beneath a fingernail or toenail. 2009-01-31T09:49:06Z UMLS:C4024219 Abnormality of the subungual region human_phenotype HP:0009723 Abnormal subungual morphology HP:0009723 A lesion located beneath a fingernail or toenail. https://orcid.org/0000-0002-0736-9199 The presence of fibromata beneath finger or toenails. 2009-01-31T09:49:51Z SNOMEDCT_US:39295002 UMLS:C0266003 human_phenotype Subungual fibroma HP:0009724 Subungual fibromas HP:0009724 The presence of fibromata beneath finger or toenails. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the urinary bladder. 2009-01-31T10:43:55Z NCIT:C3262 SNOMEDCT_US:126885006 UMLS:C0005695 Bladder cancer human_phenotype Bladder tumor Bladder tumour HP:0009725 Bladder neoplasm HP:0009725 The presence of a neoplasm of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Bladder tumour The presence of a neoplasm of the kidney. 2009-01-31T10:41:48Z HP:0005933 Kidney cancer NCIT:C3262 SNOMEDCT_US:126880001 UMLS:C0022665 UMLS:C1378703 Neoplasia of the kidneys Renal tumors Renal tumours human_phenotype Renal neoplasia HP:0009726 Renal neoplasm HP:0009726 The presence of a neoplasm of the kidney. https://orcid.org/0000-0002-0736-9199 Kidney cancer Renal tumors Renal tumours Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. 2009-01-31T10:49:15Z UMLS:C1860710 Punched out areas of chorioretinal hypopigmentation human_phenotype HP:0009727 Achromatic retinal patches HP:0009727 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina. PMID:11264130 https://orcid.org/0000-0002-0736-9199 A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle. 2009-01-31T10:52:25Z NCIT:C3262 UMLS:C4021396 Tumors of striated muscle Tumours of striated muscle human_phenotype HP:0009728 Neoplasm of striated muscle HP:0009728 A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle. https://orcid.org/0009-0006-4530-3154 Tumours of striated muscle A benign tumor of cardiac striated muscle. 2009-01-31T10:53:11Z UMLS:C1332852 human_phenotype HP:0009729 Cardiac rhabdomyoma HP:0009729 A benign tumor of cardiac striated muscle. https://orcid.org/0000-0002-0736-9199 A benign tumor of striated muscle. 2009-01-31T10:54:01Z NCIT:C3358 SNOMEDCT_US:302846007 SNOMEDCT_US:402877008 SNOMEDCT_US:43375002 UMLS:C0035411 human_phenotype HP:0009730 Rhabdomyoma HP:0009730 A benign tumor of striated muscle. https://orcid.org/0000-0002-0736-9199 The presence of a hamartoma of the cerebrum. 2009-01-31T11:02:09Z UMLS:C4024218 Cerebral hamartomata human_phenotype HP:0009731 Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. Cerebral hamartoma HP:0009731 The presence of a hamartoma of the cerebrum. https://orcid.org/0000-0002-0736-9199 A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. 2009-01-31T11:12:32Z SNOMEDCT_US:403818001 SNOMEDCT_US:41252002 UMLS:C0206728 human_phenotype HP:0009732 Plexiform neurofibroma HP:0009732 A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. https://orcid.org/0000-0002-0736-9199 The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). 2009-01-31T11:15:22Z NCIT:C3059 SNOMEDCT_US:115240006 SNOMEDCT_US:393564001 SNOMEDCT_US:74532006 UMLS:C0017638 human_phenotype HP:0009733 Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. Glioma HP:0009733 The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). https://orcid.org/0000-0002-0736-9199 A glioma originating in the optic nerve or optic chiasm. 2009-01-31T11:17:13Z SNOMEDCT_US:254976006 SNOMEDCT_US:404662003 UMLS:C0346326 Optic glioma human_phenotype HP:0009734 Optic nerve glioma HP:0009734 A glioma originating in the optic nerve or optic chiasm. https://orcid.org/0000-0002-0736-9199 A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine. 2009-01-31T11:19:24Z HP:0007077 UMLS:C4024217 Spinal neurofibromas human_phenotype HP:0009735 Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. Spinal neurofibroma HP:0009735 A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine. https://orcid.org/0000-0002-0736-9199 Spinal neurofibromas Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. 2009-01-31T11:22:24Z UMLS:C4024216 Tibial pseudoarthrosis human_phenotype HP:0009736 Tibial pseudarthrosis HP:0009736 Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. PMID:30996736 https://orcid.org/0000-0002-0736-9199 The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. 2009-01-31T11:45:04Z UMLS:C1860334 Iris hamartomas human_phenotype HP:0009737 Lisch nodules HP:0009737 The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. https://orcid.org/0000-0002-0736-9199 An abnormality of the antihelix. 2009-01-31T12:39:37Z UMLS:C4021395 Abnormal antehelix Abnormal anthelix Abnormal antihelix human_phenotype HP:0009738 An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. Abnormal antihelix morphology HP:0009738 An abnormality of the antihelix. https://orcid.org/0000-0002-0736-9199 Developmental hypoplasia of the antihelix. 2009-01-31T12:41:43Z UMLS:C4021394 Hypoplastic antihelix human_phenotype HP:0009739 Hypoplasia of the antihelix HP:0009739 Developmental hypoplasia of the antihelix. https://orcid.org/0000-0002-0736-9199 Absence of the parotid gland. 2009-01-31T12:51:47Z UMLS:C1400252 UMLS:C4020779 UMLS:C4024215 Abnormally small parotid gland Underdevelopment of parotid gland human_phenotype Absence of the parotid gland Hypoplasia of parotid gland HP:0009740 Aplasia of the parotid gland HP:0009740 Absence of the parotid gland. https://orcid.org/0000-0002-0736-9199 Abnormally small parotid gland https://orcid.org/0000-0001-5889-4463 Underdevelopment of parotid gland https://orcid.org/0000-0001-5889-4463 Hypoplasia of parotid gland https://orcid.org/0000-0001-5889-4463 Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. 2009-01-31T01:15:08Z SNOMEDCT_US:32916005 UMLS:C0027719 Scarring of kidney arteries Thickening of kidney artiries human_phenotype HP:0009741 Nephrosclerosis HP:0009741 Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. https://orcid.org/0000-0002-0736-9199 Scarring of kidney arteries https://orcid.org/0000-0001-5208-3432 Thickening of kidney artiries https://orcid.org/0000-0001-5208-3432 Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. 2009-01-31T02:02:05Z SNOMEDCT_US:249918006 UMLS:C0241042 Stiff shoulders human_phenotype HP:0009742 Stiff shoulders HP:0009742 Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. https://orcid.org/0000-0002-0736-9199 Stiff shoulders Double rows of eyelashes. 2009-01-31T02:07:50Z SNOMEDCT_US:95339000 UMLS:C0423848 Distichiasis of eyelid eyelashes human_phenotype HP:0009743 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. Distichiasis HP:0009743 Double rows of eyelashes. https://orcid.org/0000-0002-0736-9199 An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. 2009-01-31T02:20:51Z UMLS:C4024214 Abnormality of the spinal dura mater human_phenotype HP:0009744 Abnormal spinal dura mater morphology HP:0009744 An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. https://orcid.org/0000-0002-0736-9199 Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. 2009-01-31T02:22:38Z UMLS:C4021393 Epidural arachnoid cysts of the spinal canal human_phenotype HP:0009745 Spinal arachnoid cyst HP:0009745 Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. https://orcid.org/0000-0002-0736-9199 Abnormally increased thickness of the nasal septum. 2009-01-31T02:44:09Z UMLS:C1844810 Broad nasal septum Broad septum of nose Thick nasal septum Thick septum of nose Wide nasal septum Wide septum of nose human_phenotype HP:0009746 Thick nasal septum HP:0009746 Abnormally increased thickness of the nasal septum. https://orcid.org/0000-0002-0736-9199 Broad nasal septum https://orcid.org/0000-0001-5889-4463 Broad septum of nose https://orcid.org/0000-0001-5889-4463 Thick nasal septum Thick septum of nose https://orcid.org/0000-0001-5889-4463 Wide nasal septum https://orcid.org/0000-0001-5889-4463 Wide septum of nose https://orcid.org/0000-0001-5889-4463 Abnormally increased hair growth in the lumbosacral region. 2009-01-31T03:21:52Z UMLS:C1851095 human_phenotype HP:0009747 Lumbosacral hirsutism HP:0009747 Abnormally increased hair growth in the lumbosacral region. https://orcid.org/0000-0002-0736-9199 Increased volume of the earlobe, that is, abnormally prominent ear lobules. 2009-01-31T04:02:42Z HP:0004449 HP:0004456 UMLS:C1844573 Fleshy earlobe Fleshy earlobes Large earlobe Prominent ear lobes Prominent ear lobules human_phenotype HP:0009748 All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. Large earlobe HP:0009748 Increased volume of the earlobe, that is, abnormally prominent ear lobules. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Fleshy earlobe Fleshy earlobes Large earlobe Prominent ear lobes Prominent ear lobules true HP:0009749 true HP:0009750 Absence of the pectoralis major muscle. 2009-01-31T05:18:55Z UMLS:C4024213 Absent pectoralis major muscle human_phenotype HP:0009751 Aplasia of the pectoralis major muscle HP:0009751 Absence of the pectoralis major muscle. https://orcid.org/0000-0002-0736-9199 Absent pectoralis major muscle https://orcid.org/0000-0001-5208-3432 A bony defect in the skull base. 2009-01-31T05:45:00Z UMLS:C1856027 Cleft in cranial base Cleft in skull base human_phenotype HP:0009752 Cleft in skull base HP:0009752 A bony defect in the skull base. https://orcid.org/0000-0002-0736-9199 Cleft in cranial base https://orcid.org/0000-0001-5889-4463 Cleft in skull base true HP:0009753 Complete or nearly complete soft tissue fusion of the alveolar ridges. 2009-01-31T08:50:29Z UMLS:C4021392 Alveolar synechiae Fusion of the alveolar ridges human_phenotype HP:0009754 This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. Fibrous syngnathia HP:0009754 Complete or nearly complete soft tissue fusion of the alveolar ridges. PMID:19125428 Alveolar synechiae https://orcid.org/0000-0001-5889-4463 Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. 2009-01-31T08:52:59Z SNOMEDCT_US:193953008 SNOMEDCT_US:400952003 UMLS:C0339182 UMLS:C1302999 Adhesion of eyelids Ankyloblepharon filiforme adnatum Eyelid synechiae Eyelids stuck together Fused eyelid human_phenotype HP:0009755 A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. Ankyloblepharon HP:0009755 Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. PMID:18125427 Adhesion of eyelids https://orcid.org/0000-0001-5889-4463 Eyelids stuck together https://orcid.org/0000-0001-5889-4463 A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). 2009-01-31T08:54:18Z UMLS:C3805420 human_phenotype HP:0009756 Popliteal pterygium HP:0009756 A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). https://orcid.org/0000-0002-0736-9199 A pterygium (or pterygia) in the intercrural (groin) region. 2009-01-31T08:58:49Z UMLS:C3810471 human_phenotype HP:0009757 Intercrural pterygium HP:0009757 A pterygium (or pterygia) in the intercrural (groin) region. https://orcid.org/0000-0002-0736-9199 Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. 2009-01-31T09:08:49Z UMLS:C4024212 human_phenotype HP:0009758 Pyramidal skinfold extending from the base to the top of the nails HP:0009758 Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. https://orcid.org/0000-0002-0736-9199 Pterygia affecting the neck. 2009-01-31T10:10:09Z UMLS:C1849577 Neck pterygium human_phenotype HP:0009759 Neck pterygia HP:0009759 Pterygia affecting the neck. https://orcid.org/0000-0002-0736-9199 Neck pterygium https://orcid.org/0000-0001-5208-3432 Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. 2009-01-31T10:12:24Z UMLS:C1867439 Pterygium cubitale Webbed elbow human_phenotype HP:0009760 Antecubital pterygium HP:0009760 Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. https://orcid.org/0000-0002-0736-9199 Anterior schisis (cleft or cleavage) of vertebral bodies. 2009-01-31T10:40:39Z UMLS:C1849579 human_phenotype HP:0009761 Anterior clefting of vertebral bodies HP:0009761 Anterior schisis (cleft or cleavage) of vertebral bodies. https://orcid.org/0000-0002-0736-9199 Excessive wrinkling of the skin of the face. 2009-02-01T03:12:09Z SNOMEDCT_US:248194004 UMLS:C0262478 Facial wrinkling human_phenotype HP:0009762 Facial wrinkling HP:0009762 Excessive wrinkling of the skin of the face. https://orcid.org/0000-0002-0736-9199 Facial wrinkling Chronic pain in the limbs with no clear focal etiology. 2009-02-01T03:55:10Z SNOMEDCT_US:90834002 UMLS:C0030196 Limb pain human_phenotype Pain in extremities HP:0009763 Limb pain HP:0009763 Chronic pain in the limbs with no clear focal etiology. https://orcid.org/0000-0002-0736-9199 Limb pain Pain in extremities true HP:0009764 Columella extending inferior to the level of the nasal base, when viewed from the side. 2009-02-01T11:01:14Z HP:0009766 UMLS:C1856119 UMLS:C4280395 Columella, low Columella, low hanging Extension of the columella below the ala nasi Low-hanging columella human_phenotype Columella extends below the ala nasi Prominent columella Rounded columella HP:0009765 Low hanging columella HP:0009765 Columella extending inferior to the level of the nasal base, when viewed from the side. PMID:19152422 Rounded columella https://orcid.org/0000-0001-5889-4463 true HP:0009766 Small or missing phalangeal bones of the fingers of the hand. 2009-02-02T11:38:04Z HP:0006056 HP:0006100 HP:0009801 UMLS:C1848670 Aplastic/hypoplastic phalanges Aplastic/hypoplastic phalanges of the hand Hypoplastic/absent phalanges human_phenotype HP:0009767 Aplasia/Hypoplasia of the phalanges of the hand HP:0009767 Small or missing phalangeal bones of the fingers of the hand. https://orcid.org/0000-0002-0736-9199 Increased width of the phalanges of the hand. 2009-02-02T11:38:04Z HP:0001246 HP:0006260 UMLS:C4021391 Wide hand bones Widening of phalanges of the hand human_phenotype HP:0009768 Broad phalanges of the hand HP:0009768 Increased width of the phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Wide hand bones https://orcid.org/0000-0001-5208-3432 The presence of short and wide phalanges which taper distally ("bullet shaped"). 2009-02-02T11:38:04Z HP:0004270 HP:0006139 UMLS:C1854952 Bullet-shaped hand bones Bullet-shaped phalanges of the hands Conical bullet-shaped distal ends of phalanges human_phenotype HP:0009769 Bullet-shaped phalanges of the hand HP:0009769 The presence of short and wide phalanges which taper distally ("bullet shaped"). https://orcid.org/0000-0002-0736-9199 Bullet-shaped hand bones https://orcid.org/0000-0001-5208-3432 2009-02-02T11:38:04Z UMLS:C4024211 Curved hand bones human_phenotype HP:0009770 Curved phalanges of the hand HP:0009770 Curved hand bones https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the phalanges of the hand. 2009-02-02T11:38:04Z HP:0001179 SNOMEDCT_US:27201004 SNOMEDCT_US:63122002 UMLS:C0917990 Acro-osteolysis Acroosteolysis Breakdown of small bones of fingers human_phenotype HP:0009771 Osteolytic defects of the phalanges of the hand HP:0009771 Dissolution or degeneration of bone tissue of the phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Breakdown of small bones of fingers https://orcid.org/0000-0002-6548-5200 Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. 2009-02-02T11:38:04Z HP:0006071 UMLS:C1857508 Patchy sclerosis of the phalanges of the hand Phalangeal sclerosis Uneven increase in bone density in finger bone human_phenotype HP:0009772 Patchy sclerosis of finger phalanx HP:0009772 Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in finger bone https://orcid.org/0000-0001-5208-3432 HP:0009700 2009-02-02T11:38:04Z human_phenotype HP:0009773 obsolete Symphalangism affecting the phalanges of the hand true HP:0009773 2009-02-02T11:38:04Z HP:0006085 HP:0009874 UMLS:C2673397 Delta phalanx/delta-like phalanx Triangular shaped hand bones human_phenotype HP:0009774 Triangular shaped phalanges of the hand HP:0009774 Triangular shaped hand bones https://orcid.org/0000-0001-5208-3432 Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. 2009-02-02T05:36:41Z HP:0001078 SNOMEDCT_US:19988008 SNOMEDCT_US:238879003 UMLS:C0334166 UMLS:C1527388 Amniotic bands Congenital constriction band sequence Pseudoainhum human_phenotype Amniotic constriction band HP:0009775 Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. Amniotic constriction ring HP:0009775 Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. https://orcid.org/0000-0002-0736-9199 The absence of all phalanges of all the digits of a limb and the associated soft tissues. 2009-02-02T05:44:39Z Absent fingers or toes Fyler:4173 SNOMEDCT_US:275348004 UMLS:C0238591 UMLS:C4280394 Aphalangy human_phenotype HP:0009776 This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. Adactyly HP:0009776 The absence of all phalanges of all the digits of a limb and the associated soft tissues. PMID:19125433 Absent fingers or toes https://orcid.org/0000-0001-5208-3432 Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. 2009-02-02T05:46:42Z HP:0001185 HP:0002802 HP:0009627 UMLS:C3278811 Absent thumb Absent thumbs Aplasia of the thumb Thumb aplasia human_phenotype HP:0009777 Absent thumb HP:0009777 Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Absent thumb Absent thumbs Hypoplasia (congenital reduction in size) of the thumb. 2009-02-02T05:46:42Z HP:0001183 HP:0001186 HP:0001589 HP:0005699 HP:0006151 HP:0009628 SNOMEDCT_US:253936008 UMLS:C0431890 Hypoplastic thumb Hypoplastic thumbs Hypoplastic/small thumb Short thumb Short thumbs Small thumbs Thumb brachydactyly Thumb hypoplasia human_phenotype HP:0009778 Short thumb HP:0009778 Hypoplasia (congenital reduction in size) of the thumb. https://orcid.org/0000-0002-0736-9199 Short thumb Short thumbs Small thumbs Syndactyly with fusion of toes three and four. 2009-02-03T04:43:16Z HP:0004708 UMLS:C1834062 Webbed 3rd-4th toes syndactyly of 3rd - 4th toes human_phenotype HP:0009779 3-4 toe syndactyly HP:0009779 Syndactyly with fusion of toes three and four. https://orcid.org/0009-0006-4530-3154 Webbed 3rd-4th toes https://orcid.org/0000-0001-5208-3432 Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. 2009-02-03T04:48:00Z SNOMEDCT_US:84308008 UMLS:C0263925 human_phenotype HP:0009780 Iliac horns HP:0009780 Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. https://orcid.org/0000-0002-0736-9199 A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. 2009-02-03T04:50:17Z UMLS:C4024210 human_phenotype HP:0009781 Lester's sign HP:0009781 A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the biceps muscle. 2009-02-03T04:52:01Z UMLS:C4024209 Absent/small biceps Absent/underdeveloped biceps human_phenotype HP:0009782 Aplasia/Hypoplasia of the biceps HP:0009782 Absence or underdevelopment of the biceps muscle. https://orcid.org/0000-0002-0736-9199 Absent/small biceps https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped biceps https://orcid.org/0000-0001-5208-3432 Absence of the biceps muscle. 2009-02-03T04:57:47Z UMLS:C3805764 Absent biceps human_phenotype HP:0009783 Biceps aplasia HP:0009783 Absence of the biceps muscle. https://orcid.org/0000-0002-0736-9199 Absent biceps https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the triceps muscle. 2009-02-03T04:58:31Z UMLS:C4024208 Absent/small triceps Absent/underdeveloped triceps human_phenotype HP:0009784 Aplasia/Hypoplasia of the triceps HP:0009784 Absence or underdevelopment of the triceps muscle. https://orcid.org/0000-0002-0736-9199 Absent/small triceps https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped triceps https://orcid.org/0000-0001-5208-3432 Absence of the triceps muscle. 2009-02-03T05:15:21Z UMLS:C3810484 Absent triceps human_phenotype HP:0009785 Triceps aplasia HP:0009785 Absence of the triceps muscle. https://orcid.org/0000-0002-0736-9199 Absent triceps https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment involving the musculature of the thigh. 2009-02-03T05:16:42Z UMLS:C4024207 Absent/small thigh muscles Absent/underdeveloped thigh muscles human_phenotype HP:0009786 Aplasia/Hypoplasia of the musculature of the thigh HP:0009786 Absence or underdevelopment involving the musculature of the thigh. https://orcid.org/0000-0002-0736-9199 Absent/small thigh muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thigh muscles https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the quadriceps muscle. 2009-02-03T05:17:40Z UMLS:C4024206 Absent/small quadriceps Absent/underdeveloped quadriceps human_phenotype HP:0009787 Aplasia/Hypoplasia of the quadriceps HP:0009787 Absence or underdevelopment of the quadriceps muscle. https://orcid.org/0000-0002-0736-9199 Absent/small quadriceps https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped quadriceps https://orcid.org/0000-0001-5208-3432 Absence of the quadriceps muscle. 2009-02-03T05:18:11Z UMLS:C3805765 Absent quads human_phenotype HP:0009788 Quadriceps aplasia HP:0009788 Absence of the quadriceps muscle. https://orcid.org/0000-0002-0736-9199 Absent quads https://orcid.org/0000-0001-5208-3432 The presence of an abscess located around the anus. 2009-02-03T05:19:42Z SNOMEDCT_US:82127005 UMLS:C0031019 human_phenotype HP:0009789 Perianal abscess HP:0009789 The presence of an abscess located around the anus. https://orcid.org/0000-0002-0736-9199 A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. 2009-02-03T05:21:37Z UMLS:C2677632 human_phenotype HP:0009790 Hemisacrum HP:0009790 A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. https://orcid.org/0000-0002-0736-9199 Presence of a bifid sacral bone. 2009-02-03T05:22:25Z UMLS:C4024204 human_phenotype HP:0009791 Bifid sacrum HP:0009791 Presence of a bifid sacral bone. https://orcid.org/0000-0002-0736-9199 The presence of a teratoma. 2009-02-03T05:23:03Z NCIT:C3403 SNOMEDCT_US:55818009 UMLS:C0039538 human_phenotype HP:0009792 Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. Teratoma HP:0009792 The presence of a teratoma. https://orcid.org/0000-0002-0736-9199 A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). 2009-02-03T05:23:57Z UMLS:C1867782 Altman type IV sacrococcygeal teratoma Retrorectal teratoma human_phenotype HP:0009793 Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. Presacral teratoma HP:0009793 A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). https://orcid.org/0000-0002-0736-9199 Congenital developmental defect arising from the primitive branchial apparatus. 2009-02-11T05:16:20Z UMLS:C1862066 Abnormality of branchial apparatus Abnormality of branchial arch Branchial abnormality Branchial anomalies human_phenotype HP:0009794 During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. Branchial anomaly HP:0009794 Congenital developmental defect arising from the primitive branchial apparatus. https://orcid.org/0009-0006-4530-3154 Abnormality of branchial apparatus https://orcid.org/0000-0001-5889-4463 Abnormality of branchial arch https://orcid.org/0000-0001-5889-4463 A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. 2009-02-11T05:17:12Z SNOMEDCT_US:204268008 UMLS:C0546968 Branchial cleft fistula human_phenotype HP:0009795 Branchial fistula HP:0009795 A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. https://orcid.org/0009-0006-4530-3154 A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. 2009-02-11T05:18:08Z SNOMEDCT_US:42362005 SNOMEDCT_US:59857007 UMLS:C0006131 Branchial cysts human_phenotype Branchial cleft cyst HP:0009796 Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. Branchial cyst HP:0009796 A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. https://orcid.org/0009-0006-4530-3154 Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. 2009-02-11T05:20:04Z SNOMEDCT_US:363668000 SNOMEDCT_US:575006 UMLS:C0008373 human_phenotype HP:0009797 Cholesteatoma HP:0009797 Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. https://orcid.org/0000-0002-0736-9199 A goiter that is not associated with functional thyroid abnormalities. 2009-02-11T05:21:23Z SNOMEDCT_US:32251000119106 UMLS:C0302859 Euthyroid goitre human_phenotype HP:0009798 Euthyroid goiter HP:0009798 A goiter that is not associated with functional thyroid abnormalities. https://orcid.org/0000-0002-0736-9199 Euthyroid goitre The presence of two or more accessory spleens. 2009-02-11T05:44:01Z SNOMEDCT_US:10362008 UMLS:C0266631 Extra spleen human_phenotype HP:0009799 Supernumerary spleens HP:0009799 The presence of two or more accessory spleens. https://orcid.org/0000-0002-0736-9199 Extra spleen https://orcid.org/0000-0001-5208-3432 Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. 2009-02-12T05:44:58Z SNOMEDCT_US:11687002 UMLS:C0085207 UMLS:C4020778 Maternal diabetes gestational diabetes maternal hyperglycemia human_phenotype HP:0009800 Maternal diabetes HP:0009800 Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. https://orcid.org/0000-0002-0736-9199 Maternal diabetes gestational diabetes true HP:0009801 Absence of one or more of the phalanges of the hand. 2009-02-12T05:56:07Z UMLS:C4024203 UMLS:C4280393 human_phenotype Absent finger bone of the hand HP:0009802 Aplasia of the phalanges of the hand HP:0009802 Absence of one or more of the phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Absent finger bone of the hand https://orcid.org/0000-0001-5208-3432 Short (hypoplastic) phalanx of finger, affecting one or more phalanges. 2009-02-12T05:57:11Z HP:0001168 HP:0005771 HP:0006087 HP:0006126 UMLS:C0877165 Hypoplastic phalanges Hypoplastic phalanges of hands Hypoplastic/small phalanges of the hand Phalangeal hypoplasia Rudimentary phalanges Short finger bones Short phalanges Shortened phalanges human_phenotype HP:0009803 Short phalanx of finger HP:0009803 Short (hypoplastic) phalanx of finger, affecting one or more phalanges. https://orcid.org/0009-0006-4530-3154 Short finger bones The absence of one or more teeth from the normal series by a failure to develop 2009-02-14T06:20:53Z UMLS:C4024202 UMLS:C4083050 Decreased tooth count Dental agenesis Failure of development of some teeth Reduced number of teeth Teeth, agenesis human_phenotype Decreased number of teeth Fewer teeth than normal Missing some teeth HP:0009804 Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. Tooth agenesis HP:0009804 The absence of one or more teeth from the normal series by a failure to develop PMID:31468724 https://orcid.org/0009-0006-4530-3154 Decreased tooth count https://orcid.org/0000-0001-5889-4463 Failure of development of some teeth https://orcid.org/0000-0001-5889-4463 Reduced number of teeth Teeth, agenesis Decreased number of teeth https://orcid.org/0000-0001-5889-4463 Fewer teeth than normal https://orcid.org/0000-0001-5889-4463 Missing some teeth https://orcid.org/0000-0001-5889-4463 A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. 2009-02-16T11:10:18Z UMLS:C4024201 human_phenotype HP:0009805 Low-output congestive heart failure HP:0009805 A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. https://orcid.org/0000-0002-0736-9199 A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). 2009-02-16T11:23:28Z SNOMEDCT_US:111395007 UMLS:C0162283 human_phenotype HP:0009806 Nephrogenic diabetes insipidus HP:0009806 A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). https://orcid.org/0000-0002-0736-9199 true HP:0009807 A structural abnormality of a diaphysis of the arm. 2009-02-23T04:55:36Z HP:0003857 UMLS:C4021389 Abnormality involving the diaphyses of the upper limbs Abnormality of shaft of long bone of the upper limbs Diaphyseal abnormality of the upper limbs human_phenotype HP:0009808 Anomaly of the upper limb diaphyses HP:0009808 A structural abnormality of a diaphysis of the arm. HPO_CONTRIBUTOR:UToronto_htrang Abnormality of shaft of long bone of the upper limbs https://orcid.org/0000-0001-5208-3432 An anomaly of one or more metaphyses of the arms. 2009-02-23T04:55:36Z HP:0003847 UMLS:C4021388 Abnormality of the wide portion of upper limb bone Abnormality of upper limb metaphysis Metaphyseal abnormality of the upper limbs human_phenotype HP:0009809 Abnormal upper limb metaphysis morphology HP:0009809 An anomaly of one or more metaphyses of the arms. https://orcid.org/0000-0002-0736-9199 Abnormality of the wide portion of upper limb bone https://orcid.org/0000-0001-5208-3432 2009-02-23T04:57:56Z UMLS:C4021387 Abnormality of the joints of the upper limbs Abnormality of upper limb joint human_phenotype HP:0009810 Abnormality of upper limb joint HP:0009810 Abnormality of the joints of the upper limbs Abnormality of upper limb joint An anomaly of the joint that connects the upper and the lower arm. 2009-02-23T04:59:43Z HP:0002966 UMLS:C4021386 Abnormality of the elbow Abnormality of the elbows human_phenotype HP:0009811 Abnormality of the elbow HP:0009811 An anomaly of the joint that connects the upper and the lower arm. https://orcid.org/0000-0002-0736-9199 Abnormality of the elbow Abnormality of the elbows Amelia of one or both upper limbs. 2009-02-23T05:06:12Z UMLS:C4024200 human_phenotype HP:0009812 Amelia involving the upper limbs HP:0009812 Amelia of one or both upper limbs. https://orcid.org/0000-0002-0736-9199 Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). 2009-02-23T05:06:12Z SNOMEDCT_US:253926000 UMLS:C0265573 human_phenotype HP:0009813 Upper limb phocomelia HP:0009813 Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). https://orcid.org/0000-0002-0736-9199 Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. 2009-02-23T05:06:12Z UMLS:C4024199 human_phenotype HP:0009814 Upper limb peromelia HP:0009814 Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. https://orcid.org/0009-0006-4530-3154 Absence (due to failure to form) or underdevelopment of the extremities. 2009-02-23T05:06:40Z HP:0002969 HP:0006497 UMLS:C0239399 Absent/small extremities Absent/underdeveloped extremities Short or absent limbs Shortened limbs human_phenotype HP:0009815 Aplasia/hypoplasia of the extremities HP:0009815 Absence (due to failure to form) or underdevelopment of the extremities. https://orcid.org/0000-0002-0736-9199 Absent/small extremities https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped extremities https://orcid.org/0000-0001-5208-3432 Leg shortening because of underdevelopment of one or more bones of the lower extremity. 2009-02-23T05:09:32Z HP:0003087 HP:0005884 HP:0006399 SNOMEDCT_US:253959002 UMLS:C0345371 Hypoplasia involving bones of the lower limbs Hypoplasia of the lower limbs Lower limb undergrowth Underdeveloped lower limb bones human_phenotype HP:0009816 Lower limb undergrowth HP:0009816 Leg shortening because of underdevelopment of one or more bones of the lower extremity. https://orcid.org/0000-0002-0736-9199 Lower limb undergrowth Underdeveloped lower limb bones https://orcid.org/0000-0001-5208-3432 2009-02-23T05:10:03Z UMLS:C4024198 Absent bones of the lower limbs human_phenotype HP:0009817 Aplasia involving bones of the lower limbs HP:0009817 Absent bones of the lower limbs https://orcid.org/0000-0001-5208-3432 Complete or near-complete absence of a leg. 2009-02-23T05:11:07Z UMLS:C4024197 human_phenotype HP:0009818 Amelia involving the lower limbs HP:0009818 Complete or near-complete absence of a leg. PMID:2305372 https://orcid.org/0000-0002-0736-9199 Phocomelia affecting only the lower limbs. 2009-02-23T05:11:07Z SNOMEDCT_US:253963009 UMLS:C0265625 human_phenotype HP:0009819 Lower limb phocomelia HP:0009819 Phocomelia affecting only the lower limbs. https://orcid.org/0009-0006-4530-3154 Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. 2009-02-23T05:11:07Z UMLS:C4024196 human_phenotype HP:0009820 Lower limb peromelia HP:0009820 Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. https://orcid.org/0009-0006-4530-3154 Forearm shortening because of underdevelopment of one or more bones of the forearm. 2009-02-23T05:11:42Z HP:0003024 HP:0003968 HP:0006405 UMLS:C1855299 Forearm undergrowth Hypoplasia involving forearm bones Short forearm bones Short forearms Shortened forearm human_phenotype HP:0009821 Forearm undergrowth HP:0009821 Forearm shortening because of underdevelopment of one or more bones of the forearm. https://orcid.org/0000-0002-0736-9199 Forearm undergrowth Short forearm bones Short forearms Shortened forearm HP:0003953 2009-02-23T05:12:10Z human_phenotype HP:0009822 obsolete Aplasia involving forearm bones true HP:0009822 2009-02-23T05:13:20Z UMLS:C4024194 Absent bones of the upper limbs human_phenotype HP:0009823 Aplasia involving bones of the upper limbs HP:0009823 Absent bones of the upper limbs https://orcid.org/0000-0001-5208-3432 Arm shortening because of underdevelopment of one or more bones of the upper extremity. 2009-02-23T05:13:20Z HP:0003056 HP:0006364 UMLS:C1837406 Hypoplasia involving bones of the upper limbs Short arms Shortening of the arms Upper limb undergrowth human_phenotype HP:0009824 Upper limb undergrowth HP:0009824 Arm shortening because of underdevelopment of one or more bones of the upper extremity. https://orcid.org/0000-0002-0736-9199 Short arms Shortening of the arms Upper limb undergrowth 2009-02-23T05:16:44Z UMLS:C4024193 Absent bones of the extremities human_phenotype HP:0009825 Aplasia involving bones of the extremities HP:0009825 Absent bones of the extremities https://orcid.org/0000-0001-5208-3432 Limb shortening because of underdevelopment of one or more bones of the extremities. 2009-02-23T05:16:44Z HP:0003058 HP:0005049 HP:0005057 UMLS:C0239399 Hypoplasia involving bones of the extremities Limb undergrowth Short limb Short limbs limb shortening human_phenotype HP:0009826 Limb undergrowth HP:0009826 Limb shortening because of underdevelopment of one or more bones of the extremities. https://orcid.org/0000-0002-0736-9199 Limb undergrowth Short limb Short limbs https://orcid.org/0000-0002-5316-1399 limb shortening Congenital absence (aplasia) of one or more limbs. 2009-02-23T05:17:25Z MEDDRA:10001926 SNOMEDCT_US:62588002 UMLS:C0002447 human_phenotype HP:0009827 Amelia HP:0009827 Congenital absence (aplasia) of one or more limbs. https://orcid.org/0009-0006-4530-3154 MEDDRA:10001926 Amelia The distal parts of the limbs are missing leading to a stump formation. 2009-02-23T05:17:25Z UMLS:C4024192 human_phenotype HP:0009828 Peromelia HP:0009828 The distal parts of the limbs are missing leading to a stump formation. https://orcid.org/0000-0002-0736-9199 Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). 2009-02-23T05:17:25Z HP:0002994 MEDDRA:10034923 SNOMEDCT_US:22841008 UMLS:C0031575 human_phenotype HP:0009829 Phocomelia HP:0009829 Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). https://orcid.org/0000-0002-0736-9199 MEDDRA:10034923 Phocomelia Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. 2009-03-01T07:49:18Z HP:0003157 HP:0003407 HP:0007088 HP:0007235 HP:0007355 SNOMEDCT_US:302226006 SNOMEDCT_US:386033004 SNOMEDCT_US:42658009 UMLS:C0031117 UMLS:C0442874 Peripheral nerve damage Peripheral neuritis human_phenotype Neuropathy HP:0009830 Terms from this subhierarchy should be used to describe functional abnormalities seen in peripheral neuropathy. Morphological abnormalities should be coded separately. Peripheral neuropathy HP:0009830 Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. https://orcid.org/0009-0006-4530-3154 Peripheral nerve damage https://orcid.org/0000-0001-5208-3432 Peripheral neuritis https://orcid.org/0000-0001-5208-3432 A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. 2009-03-01T08:27:29Z SNOMEDCT_US:128189008 UMLS:C0494491 Single damaged nerve human_phenotype HP:0009831 Mononeuropathy HP:0009831 A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. https://orcid.org/0000-0002-0736-9199 Single damaged nerve https://orcid.org/0000-0001-5208-3432 Any anomaly of distal phalanx of finger. 2009-03-11T12:01:39Z HP:0005919 UMLS:C4021385 Abnormal terminal phalanges of the hand Abnormality of the distal phalanges of the hand Abnormality of the distal phalanx of finger Abnormality of the outermost finger bone human_phenotype HP:0009832 Abnormal distal phalanx morphology of finger HP:0009832 Any anomaly of distal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the outermost finger bone https://orcid.org/0000-0001-5208-3432 An anomaly of middle phalanx of finger. 2009-03-11T12:01:39Z UMLS:C4024191 Abnormality of the middle finger bones of the hand Abnormality of the middle phalanges of the hand human_phenotype HP:0009833 Abnormal middle phalanx morphology of the hand HP:0009833 An anomaly of middle phalanx of finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the middle finger bones of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:01:39Z UMLS:C4024190 Abnormality of the innermost finger bones of the hand Abnormality of the proximal phalanges of the hand human_phenotype HP:0009834 Abnormal proximal phalanx morphology of the hand HP:0009834 Abnormality of the innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the distal phalanges. 2009-03-11T12:10:11Z HP:0005635 HP:0006037 HP:0006066 HP:0006235 UMLS:C1861336 Absent/hypoplastic distal phalanges Absent/small outermost finger bone of the hand Absent/underdeveloped outermost finger bone of the hand Aplasia/Hypoplasia of the distal phalanges Aplastic/hypoplastic distal phalanges Hypoplastic to absent terminal phalanges Hypoplastic/aplastic distal phalanges Hypoplastic/aplastic distal phalanx human_phenotype Small or absent distal phalanges HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand HP:0009835 Absence or underdevelopment of the distal phalanges. https://orcid.org/0000-0002-0736-9199 Absent/small outermost finger bone of the hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost finger bone of the hand https://orcid.org/0000-0001-5208-3432 Small or absent distal phalanges https://orcid.org/0000-0002-5316-1399 Abnormally wide (broad) distal phalanx of finger. 2009-03-11T12:10:11Z HP:0003120 HP:0006113 HP:0006197 HP:0006241 HP:0009859 UMLS:C1850630 Broad distal phalanges Broad distal phalanges of the hand Broad distal phalanx Broad outermost finger bone Broad terminal phalanges Broad, square ends of distal phalanges Spatulate terminal phalanges human_phenotype HP:0009836 This term should be reserved for a radiological finding of increased width of the distal finger phalanx (bone). The term Broad fingertip should be used to denote a clinical impression of increased side to side width of the distance part of the finger. Broad distal phalanx of finger HP:0009836 Abnormally wide (broad) distal phalanx of finger. https://orcid.org/0009-0006-4530-3154 Broad outermost finger bone https://orcid.org/0000-0001-5208-3432 Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-03-11T12:10:11Z HP:0009860 UMLS:C4024189 Bullet-shaped outermost finger bone of the hand human_phenotype HP:0009837 Bullet-shaped distal phalanges of the hand HP:0009837 Bullet-shaped outermost finger bone of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:10:11Z HP:0009862 UMLS:C4024188 Curved outermost finger bone of the hand human_phenotype HP:0009838 Curved distal phalanges of the hand HP:0009838 Curved outermost finger bone of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:10:11Z HP:0001219 HP:0009865 UMLS:C1849547 Acro-osteolysis of distal phalanges Acroosteolysis of distal phalanges Osteolytic defects of the outermost finger bone of the hand human_phenotype HP:0009839 Osteolytic defects of the distal phalanges of the hand HP:0009839 Osteolytic defects of the outermost finger bone of the hand https://orcid.org/0000-0001-5208-3432 Uneven (irregular) increase in bone density of the distal phalanges of the hand. 2009-03-11T12:10:11Z HP:0009868 UMLS:C4021384 Patchy sclerosis of the distal phalanges of the hand Uneven increase in bone density in outermost finger bone human_phenotype HP:0009840 Patchy sclerosis of distal phalanx of finger HP:0009840 Uneven (irregular) increase in bone density of the distal phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in outermost finger bone https://orcid.org/0000-0001-5208-3432 true HP:0009841 true HP:0009842 2009-03-11T12:15:55Z HP:0005810 HP:0006063 HP:0006148 UMLS:C1862152 Absent/hypoplastic middle phalanges Absent/small middle finger bone of the hand Absent/underdeveloped middle finger bone of the hand Aplasia/hypoplasia of middle phalanges Aplastic/hypoplastic middle phalanges Hypoplastic/aplastic middle phalanx Short to absent middle phalanges Short/absent middle phalanges human_phenotype HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand HP:0009843 Absent/small middle finger bone of the hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle finger bone of the hand https://orcid.org/0000-0001-5208-3432 Increased width of the middle phalanx of finger. 2009-03-11T12:15:55Z UMLS:C4021383 Broad middle finger bones Broad middle phalanges of finger Broad middle phalanges of the hand human_phenotype HP:0009844 Broad middle phalanx of finger HP:0009844 Increased width of the middle phalanx of finger. https://orcid.org/0000-0002-0736-9199 Broad middle finger bones https://orcid.org/0000-0001-6908-9849 Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-03-11T12:15:55Z HP:0006038 UMLS:C4024187 human_phenotype HP:0009845 Bullet-shaped middle phalanges of the hand HP:0009845 Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 2009-03-11T12:15:55Z HP:0009863 UMLS:C4024186 Curved middle finger bonds of the hand human_phenotype HP:0009846 Curved middle phalanges of the hand HP:0009846 Curved middle finger bonds of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:15:55Z HP:0009866 UMLS:C4024185 human_phenotype HP:0009847 Osteolytic defects of the middle phalanges of the hand HP:0009847 Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. 2009-03-11T12:15:55Z HP:0009870 UMLS:C4021382 Patchy sclerosis of the middle phalanges of the hand Uneven increase in bone density in the middle finger bones of the hand human_phenotype HP:0009848 Patchy sclerosis of middle phalanx of finger HP:0009848 Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle finger bones of the hand https://orcid.org/0000-0001-5208-3432 HP:0009700 2009-03-11T12:15:55Z human_phenotype HP:0009849 obsolete Symphalangism of middle phalanx of finger true HP:0009849 2009-03-11T12:15:55Z HP:0009876 UMLS:C4024183 Triangular shaped middle finger bones of the hand human_phenotype HP:0009850 Triangular shaped middle phalanges of the hand HP:0009850 Triangular shaped middle finger bones of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:16:33Z UMLS:C4024182 Absent/small innermost finger bones of the hand Absent/underdeveloped innermost finger bones of the hand human_phenotype HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand HP:0009851 Absent/small innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 Increased width of the proximal phalanges of the finger. 2009-03-11T12:16:33Z HP:0006168 UMLS:C4024181 Broad innermost finger bones of the hand Wide innermost finger bones of the hand human_phenotype HP:0009852 Broad proximal phalanges of the hand HP:0009852 Increased width of the proximal phalanges of the finger. https://orcid.org/0000-0002-0736-9199 Broad innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 Wide innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-03-11T12:16:33Z HP:0009861 UMLS:C4024180 Bullet-shaped innermost finger bones of the hand human_phenotype HP:0009853 Bullet-shaped proximal phalanges of the hand HP:0009853 Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:16:33Z HP:0009864 UMLS:C4024179 Curved innermost finger bones of the hand human_phenotype HP:0009854 Curved proximal phalanges of the hand HP:0009854 Curved innermost finger bones of the hand https://orcid.org/0000-0001-5208-3432 2009-03-11T12:16:33Z HP:0006050 HP:0009867 UMLS:C1850148 Proximal phalanges osteolysis human_phenotype HP:0009855 Osteolytic defects of the proximal phalanges of the hand HP:0009855 Uneven increase in bone density of the proximal phalanges of the hand. 2009-03-11T12:16:33Z HP:0009869 UMLS:C4021381 Patchy sclerosis of the proximal phalanges of the hand Uneven increase in bone density in innermost finger bone human_phenotype HP:0009856 Patchy sclerosis of proximal phalanx of finger HP:0009856 Uneven increase in bone density of the proximal phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in innermost finger bone https://orcid.org/0000-0001-5208-3432 HP:0006152 2009-03-11T12:16:33Z human_phenotype HP:0009857 obsolete Symphalangism affecting the proximal phalanges of the hand true HP:0009857 2009-03-11T12:16:33Z HP:0009877 UMLS:C4024177 human_phenotype Triangular shaped innermost finger bone HP:0009858 Triangular shaped proximal phalanges of the hand HP:0009858 Triangular shaped innermost finger bone https://orcid.org/0000-0001-5208-3432 true HP:0009859 true HP:0009860 true HP:0009861 true HP:0009862 true HP:0009863 true HP:0009864 true HP:0009865 true HP:0009866 true HP:0009867 true HP:0009868 true HP:0009869 true HP:0009870 true HP:0009871 true HP:0009872 true HP:0009873 true HP:0009874 2009-03-11T01:53:07Z HP:0006061 HP:0009842 UMLS:C4024176 Triangular shaped outermost bone of the hand human_phenotype HP:0009875 Triangular shaped distal phalanges of the hand HP:0009875 Triangular shaped outermost bone of the hand https://orcid.org/0000-0001-5889-4463 true HP:0009876 true HP:0009877 The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). 2009-03-28T05:22:45Z UMLS:C4024175 human_phenotype HP:0009878 Cerebellar ataxia associated with quadrupedal gait HP:0009878 The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight). https://orcid.org/0000-0002-0736-9199 An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. 2009-03-28T06:23:59Z UMLS:C2749675 Cortical gyral simplification human_phenotype HP:0009879 Simplified gyral pattern HP:0009879 An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. PMID:22427329 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 Cortical gyral simplification https://orcid.org/0000-0002-5316-1399 Abnormally wide (broad) distal phalanx of finger of all fingers. 2009-04-24T04:18:59Z HP:0005816 UMLS:C4024174 Broad outermost hand bones human_phenotype HP:0009880 Broad distal phalanges of all fingers HP:0009880 Abnormally wide (broad) distal phalanx of finger of all fingers. https://orcid.org/0000-0002-0736-9199 Broad outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-04-24T04:29:30Z HP:0005807 UMLS:C4024173 Absent distal finger phalanges Absent distal finger phalanx Absent distal phalanges of the hand Absent outermost hand bone Aplasia of outermost hand bone Aplasia of the distal phalanges of the hand human_phenotype HP:0009881 Aplasia of distal finger phalanx HP:0009881 Absent distal finger phalanges Absent distal phalanges of the hand https://orcid.org/0000-0001-5208-3432 Absent outermost hand bone https://orcid.org/0000-0001-5208-3432 Aplasia of outermost hand bone https://orcid.org/0000-0001-5208-3432 Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. 2009-04-24T04:29:30Z HP:0001198 HP:0001202 HP:0001221 HP:0001229 HP:0005669 HP:0006075 HP:0006076 HP:0006132 HP:0006199 HP:0006223 UMLS:C1839829 Brachytelophalangy Distal phalangeal hypoplasia Hypoplasia of the distal phalanges Hypoplasia of the distal phalanges of the hand Hypoplastic distal phalanges Hypoplastic terminal phalanges Short distal phalanges Short outermost finger bone Terminal phalangeal hypoplasia of hand human_phenotype HP:0009882 This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. Short distal phalanx of finger HP:0009882 Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Short outermost finger bone https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-04-24T04:33:55Z HP:0001228 HP:0010007 UMLS:C1849343 Bifid terminal phalanges Duplication of the outermost bone of hand Notched outermost bone of hand Partial/complete duplication of the distal phalanges of the hand human_phenotype HP:0009883 Duplication of the distal phalanx of hand HP:0009883 This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of the outermost bone of hand https://orcid.org/0000-0001-5208-3432 Notched outermost bone of hand https://orcid.org/0000-0001-5208-3432 A reduction in diameter of the distal phalanx of finger towards the distal end. 2009-04-24T04:40:31Z HP:0006052 UMLS:C1969237 Tapered distal phalanges Tapered distal phalanges of the hand Tapered outermost finger bone human_phenotype HP:0009884 Tapered distal phalanges of finger HP:0009884 A reduction in diameter of the distal phalanx of finger towards the distal end. https://orcid.org/0000-0002-0736-9199 Tapered outermost finger bone https://orcid.org/0000-0001-5208-3432 HP:0001511 human_phenotype HP:0009885 obsolete Prenatal short stature true HP:0009885 Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. 2009-04-30T05:51:57Z SNOMEDCT_US:22486004 SNOMEDCT_US:238736006 UMLS:C0263485 human_phenotype HP:0009886 Trichorrhexis nodosa HP:0009886 Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. https://orcid.org/0000-0002-0736-9199 An abnormality of hair pigmentation (color). 2009-04-30T06:00:53Z UMLS:C4024172 Abnormality of hair color Abnormality of hair colour Abnormality of hair pigmentation human_phenotype HP:0009887 Abnormality of hair pigmentation HP:0009887 An abnormality of hair pigmentation (color). https://orcid.org/0000-0002-0736-9199 Abnormality of hair color https://orcid.org/0000-0001-5889-4463 Abnormality of hair colour Abnormality of hair pigmentation Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. 2009-04-30T06:18:33Z UMLS:C4024171 Abnormality of secondary sexual hair human_phenotype HP:0009888 Abnormality of secondary sexual hair HP:0009888 Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. https://orcid.org/0000-0002-0736-9199 Abnormality of secondary sexual hair Abnormally increased hair growth with a localized distribution. 2009-04-30T06:29:20Z UMLS:C4024170 Localised abnormal hair growth Localised hirsutism Localized abnormal hair growth human_phenotype HP:0009889 Localized hirsutism HP:0009889 Abnormally increased hair growth with a localized distribution. https://orcid.org/0000-0002-0736-9199 Localised abnormal hair growth Localised hirsutism Localized abnormal hair growth https://orcid.org/0000-0001-5889-4463 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. 2009-04-30T06:34:27Z UMLS:C3276036 High frontal hairline human_phenotype HP:0009890 This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. High anterior hairline HP:0009890 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. PMID:19125436 High frontal hairline Flatness of the supraorbital portion of the frontal bones. 2009-04-30T06:50:09Z HP:0004667 HP:0004672 HP:0005337 UMLS:C1861869 UMLS:C4020777 Depressed supraorbital margins Depressed supraorbital ridge Flat supraorbital margins Flat supraorbital ridge Flattened bony protrusion above eyes Hypoplasia of supraorbital margins Hypoplasia of the supraorbital ridges Hypoplastic supraorbital ridges Shallow orbital ridges Shallow supraorbital ridge human_phenotype Underdeveloped brows HP:0009891 Underdeveloped supraorbital ridges HP:0009891 Flatness of the supraorbital portion of the frontal bones. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Depressed supraorbital margins https://orcid.org/0000-0001-5889-4463 Flat supraorbital margins https://orcid.org/0000-0001-5889-4463 Flattened bony protrusion above eyes https://orcid.org/0000-0002-6548-5200 Hypoplasia of supraorbital margins https://orcid.org/0000-0001-5889-4463 Underdeveloped brows Complete absence of any auricular structures. 2009-04-30T06:53:41Z SNOMEDCT_US:57436000 UMLS:C0702139 UMLS:C1408788 human_phenotype Absent ear Absent ears Congenital absence of external ear HP:0009892 Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. Anotia HP:0009892 Complete absence of any auricular structures. PMID:19125421 https://orcid.org/0000-0002-0736-9199 Absent ear Absent ears https://orcid.org/0000-0002-5316-1399 Congenital absence of external ear https://orcid.org/0000-0002-5316-1399 The presence of telangiectasia of the ear. 2009-04-30T10:07:39Z UMLS:C4024169 human_phenotype HP:0009893 Telangiectasia of the ear HP:0009893 The presence of telangiectasia of the ear. https://orcid.org/0000-0002-0736-9199 Increased thickness of the external ear. 2009-04-30T10:09:17Z UMLS:C4024168 Thickened ears human_phenotype HP:0009894 Thickened ears HP:0009894 Thickened ears An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. 2009-04-30T10:32:41Z UMLS:C4021380 Abnormality of the crus of the ear human_phenotype HP:0009895 Abnormality of the crus of the helix HP:0009895 An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. https://orcid.org/0000-0002-0736-9199 An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. 2009-04-30T10:13:21Z UMLS:C4024167 human_phenotype HP:0009896 Abnormal antitragus morphology HP:0009896 An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. https://orcid.org/0000-0002-0736-9199 An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. 2009-04-30T10:34:52Z UMLS:C4021379 Helix, crus, horizontal Horizontal orientation of the crus of helix Horizontal orientation of the ear crus human_phenotype Railroad track ears Railroad track sign HP:0009897 The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. Horizontal crus of helix HP:0009897 An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Railroad track ears Railroad track sign Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. 2009-04-30T10:36:43Z UMLS:C4021378 Hypoplasia of the crus of the ear Underdeveloped crus of the ear human_phenotype HP:0009898 Underdeveloped crus of the helix HP:0009898 Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average. PMID:19152421 https://orcid.org/0000-0002-0736-9199 The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. 2009-04-30T10:38:06Z UMLS:C4021377 Abnormal prominence of the crus of the ear Helix, crus, prominent Hyperplastic helix crus Hypertrophic helix crus human_phenotype HP:0009899 Prominent crus of helix HP:0009899 The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. PMID:19152421 https://orcid.org/0000-0002-0736-9199 A unilateral absence of sensory perception of sound. 2009-04-30T10:42:23Z SNOMEDCT_US:162342008 UMLS:C2607947 Deafness in one ear Deafness, unilateral human_phenotype HP:0009900 Deafness affecting only one ear. Unilateral deafness HP:0009900 A unilateral absence of sensory perception of sound. https://orcid.org/0000-0002-0736-9199 Deafness in one ear https://orcid.org/0000-0001-5208-3432 Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. 2009-04-30T10:50:28Z Cauliflower ear UMLS:C4024166 Crumpled ear human_phenotype HP:0009901 This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. Crumpled ear HP:0009901 Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. PMID:19152421 Crumpled ear A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. 2009-04-30T10:52:45Z UMLS:C4021376 Notched helix Notching of the ear helix human_phenotype HP:0009902 This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. Cleft helix HP:0009902 A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Presence of nodules in the conjunctiva of the eye. 2009-05-02T05:04:15Z SNOMEDCT_US:428477002 UMLS:C1996949 human_phenotype HP:0009903 Conjunctival nodule HP:0009903 Presence of nodules in the conjunctiva of the eye. https://orcid.org/0000-0002-0736-9199 Abnormally prominent ear helix. 2009-05-01T02:49:39Z UMLS:C4020776 UMLS:C4024165 human_phenotype Large helix HP:0009904 Prominent ear helix HP:0009904 Abnormally prominent ear helix. https://orcid.org/0000-0002-0736-9199 Decreased thickness of the helix of the ear. 2009-05-01T02:50:35Z UMLS:C4024164 human_phenotype HP:0009905 Thin ear helix HP:0009905 Decreased thickness of the helix of the ear. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the ear lobes. 2009-05-01T02:55:12Z UMLS:C1851792 Absent/small ear lobes Absent/underdeveloped ear lobes human_phenotype HP:0009906 Aplasia/Hypoplasia of the earlobes HP:0009906 Absence or underdevelopment of the ear lobes. https://orcid.org/0000-0002-0736-9199 Absent/small ear lobes https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ear lobes https://orcid.org/0000-0001-5208-3432 Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. 2009-05-01T02:57:50Z UMLS:C4021375 Adherent earlobe Attached earlobe human_phenotype HP:0009907 The earlobe does not have a dependent portion. Attached earlobe HP:0009907 Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. PMID:19152421 Attached earlobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. 2009-05-01T03:00:22Z HP:0008604 UMLS:C1851897 Earlobe crease Transverse earlobe creases human_phenotype HP:0009908 Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. Anterior creases of earlobe HP:0009908 Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. PMID:19152421 Earlobe crease An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. 2009-05-01T03:02:07Z HP:0009764 UMLS:C1856117 Fleshy upturned lobules Lobe, uplifted Uplifted earlobe Upturned earlobe human_phenotype Uplifted earlobes Upturned earlobes HP:0009909 This finding is characteristic of Mowat-Wilson syndrome. Uplifted earlobe HP:0009909 An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Lobe, uplifted Uplifted earlobe Upturned earlobe Uplifted earlobes https://orcid.org/0000-0002-5316-1399 Upturned earlobes https://orcid.org/0000-0002-5316-1399 Absence of the middle ear ossicles, malleus, incus, and stapes. 2009-05-01T03:26:53Z UMLS:C4021374 Absent middle ear bones Absent middle ear ossicles human_phenotype HP:0009910 Aplasia of the middle ear ossicles HP:0009910 Absence of the middle ear ossicles, malleus, incus, and stapes. https://orcid.org/0000-0002-0736-9199 Absent middle ear bones https://orcid.org/0000-0001-5208-3432 Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. 2009-05-01T03:33:17Z UMLS:C4024163 Abnormality of the temporal bone human_phenotype HP:0009911 Abnormal temporal bone morphology HP:0009911 Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. https://orcid.org/0000-0002-0736-9199 An abnormality of the tragus. 2009-05-01T03:39:56Z UMLS:C4024162 Abnormality of the tragus human_phenotype HP:0009912 The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. Abnormal tragus morphology HP:0009912 An abnormality of the tragus. https://orcid.org/0000-0002-0736-9199 Aplasia or developmental hypoplasia of the tragus. 2009-05-01T03:43:12Z UMLS:C4024161 Absent/small tragus Absent/underdeveloped tragus human_phenotype HP:0009913 Aplasia/Hypoplasia of the tragus HP:0009913 Aplasia or developmental hypoplasia of the tragus. https://orcid.org/0000-0002-0736-9199 Absent/small tragus https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped tragus https://orcid.org/0000-0001-5208-3432 Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. 2009-05-01T03:52:15Z SNOMEDCT_US:205798005 UMLS:C0266667 Cyclops eye Single central eye human_phenotype HP:0009914 Cyclopia HP:0009914 Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. HPO_CONTRIBUTOR:DDD_ncarter Cyclops eye https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Single central eye The presence of a size difference between the left and right cornea. 2009-05-02T05:06:20Z UMLS:C4021373 Asymmetry of the corneas human_phenotype HP:0009915 Corneal asymmetry HP:0009915 The presence of a size difference between the left and right cornea. https://orcid.org/0000-0002-0736-9199 Asymmetry of the corneas Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. 2009-05-02T05:46:50Z SNOMEDCT_US:13045009 UMLS:C0003079 Asymmetric pupil sizes Asymmetry of the pupils Unequal pupil dilatation Unequal pupil size human_phenotype HP:0009916 Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. Anisocoria HP:0009916 Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. https://orcid.org/0000-0002-0736-9199 Asymmetric pupil sizes Asymmetry of the pupils Unequal pupil size https://orcid.org/0000-0001-5208-3432 The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. 2009-05-02T05:51:28Z SNOMEDCT_US:95500008 UMLS:C0344541 human_phenotype HP:0009917 The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. Persistent pupillary membrane HP:0009917 The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. https://orcid.org/0000-0002-0736-9199 A malposition of the pupil owing to a developmental defect of the iris. 2009-05-02T06:01:01Z SNOMEDCT_US:193523008 SNOMEDCT_US:392461003 UMLS:C1271219 Corectopia Displaced pupil human_phenotype HP:0009918 Ectopia pupillae HP:0009918 A malposition of the pupil owing to a developmental defect of the iris. https://orcid.org/0000-0001-8727-6592 https://orcid.org/0000-0002-0736-9199 Displaced pupil https://orcid.org/0000-0001-5208-3432 A tumor of the eye originating from cells of the retina. 2009-05-02T06:23:25Z Retina tumor Retina tumour NCIT:C7541 SNOMEDCT_US:127002001 SNOMEDCT_US:19906005 SNOMEDCT_US:370967009 UMLS:C0035335 UMLS:C0524801 human_phenotype HP:0009919 Retinoblastoma HP:0009919 A tumor of the eye originating from cells of the retina. https://orcid.org/0000-0002-0736-9199 Retina tumor https://orcid.org/0000-0001-5208-3432 Retina tumour A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. 2009-05-02T06:26:59Z SNOMEDCT_US:254817005 SNOMEDCT_US:414929001 UMLS:C0027961 Congenital melanosis bulbi Mongolian spot Naevus fuscoceruleus ophthalmomaxillaris Nevus fuscoceruleus ophthalmomaxillaris Nevus of Ito Oculodermal melanocytosis human_phenotype HP:0009920 Nevus of Ota HP:0009920 A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera. PMID:14673306 Mongolian spot Naevus fuscoceruleus ophthalmomaxillaris A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction 2009-05-02T06:32:41Z HP:0001109 SNOMEDCT_US:60318001 UMLS:C0013261 UMLS:C1846464 UMLS:C4072873 Limited eye motility from Duane anomaly Limited eye movement from Duane anomaly human_phenotype Globe retraction and deviation on adduction HP:0009921 Duane anomaly HP:0009921 A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction https://orcid.org/0000-0002-0736-9199 Limited eye motility from Duane anomaly https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Limited eye movement from Duane anomaly https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. 2009-05-02T06:43:07Z UMLS:C4024160 Persistence of the hyaloid artery Persistent hyaloid artery human_phenotype HP:0009922 Vascular remnant arising from the disk HP:0009922 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. PMID:23772130 https://orcid.org/0000-0002-0736-9199 true HP:0009923 Underdevelopment or absence of the nose or parts thereof. 2009-05-05T06:44:04Z SNOMEDCT_US:204519007 SNOMEDCT_US:93278002 UMLS:C0685684 UMLS:C4024159 UMLS:C4280392 Decreased nasal size Decreased size of nose Hypoplasia of the nose Hypotrophic nose human_phenotype HP:0009924 Aplasia/Hypoplasia involving the nose HP:0009924 Underdevelopment or absence of the nose or parts thereof. https://orcid.org/0000-0002-0736-9199 Decreased nasal size https://orcid.org/0000-0001-5889-4463 Decreased size of nose https://orcid.org/0000-0001-5889-4463 Hypoplasia of the nose https://orcid.org/0000-0001-5889-4463 Hypotrophic nose https://orcid.org/0000-0001-5889-4463 true HP:0009925 Abnormally increased lacrimation, that is, excessive tearing (watering eye). 2009-05-02T10:52:28Z HP:0001486 SNOMEDCT_US:193982009 SNOMEDCT_US:418035005 UMLS:C0152227 Increased lacrimation Increased tears Tearing Watery eyes human_phenotype HP:0009926 Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system. Epiphora HP:0009926 Abnormally increased lacrimation, that is, excessive tearing (watering eye). HPO_CONTRIBUTOR:DDD_ncarter PMID:28003974 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Increased tears Tearing Watery eyes Complete absence of all nasal structures. 2009-05-05T06:44:57Z SNOMEDCT_US:111317000 UMLS:C0265740 UMLS:C4280391 Absent nose Arrhinia Failure of development of nose Nasal underdevelopment Underdevelopment of nose Missing nose human_phenotype HP:0009927 Aplasia of the nose HP:0009927 Complete absence of all nasal structures. https://orcid.org/0000-0002-0736-9199 Absent nose Failure of development of nose https://orcid.org/0000-0001-5889-4463 Nasal underdevelopment https://orcid.org/0000-0001-5889-4463 Underdevelopment of nose https://orcid.org/0000-0001-5889-4463 Missing nose https://orcid.org/0000-0001-5889-4463 Increase in bulk of the ala nasi. 2009-05-05T06:47:43Z UMLS:C1844809 Ala nasi, thick Thickening of the alae nasi human_phenotype HP:0009928 Thick nasal alae HP:0009928 Increase in bulk of the ala nasi. PMID:19152422 A structural abnormality of the columella. 2009-05-05T06:51:28Z UMLS:C4024158 Abnormality of the columella Anomaly of the columella Deformity of the columella Malformation of the columella human_phenotype HP:0009929 The columella is the fleshy external end of the nasal septum. Abnormal columella morphology HP:0009929 A structural abnormality of the columella. https://orcid.org/0000-0002-0736-9199 Anomaly of the columella https://orcid.org/0000-0001-5889-4463 Deformity of the columella https://orcid.org/0000-0001-5889-4463 Malformation of the columella https://orcid.org/0000-0001-5889-4463 Asymmetry or size difference between the left and right nostril. 2009-05-05T07:06:20Z UMLS:C4024157 Asymmetry of nostrils Crooked nostrils Unequal nostril shape Unequal nostril size Uneven nostril shape Uneven nostril size human_phenotype HP:0009930 Asymmetry of the nares HP:0009930 Asymmetry or size difference between the left and right nostril. https://orcid.org/0000-0002-0736-9199 Asymmetry of nostrils https://orcid.org/0000-0001-5889-4463 Crooked nostrils https://orcid.org/0000-0001-5889-4463 Unequal nostril shape https://orcid.org/0000-0001-5889-4463 Unequal nostril size https://orcid.org/0000-0001-5889-4463 Uneven nostril shape https://orcid.org/0000-0001-5889-4463 Uneven nostril size https://orcid.org/0000-0001-5889-4463 Increased aperture of the nostril. 2009-05-10T10:30:20Z SNOMEDCT_US:399353008 UMLS:C0426440 Broad nostril Dilated nares Dilated nostril Enlarged nares Enlarged nostril Increased diameter of nares Increased diameter of nostril Increased width of nares Large nares Naris, broad Naris, enlarged Wide nares Wide nostril human_phenotype HP:0009931 The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. Enlarged naris HP:0009931 Increased aperture of the nostril. PMID:19152422 Broad nostril https://orcid.org/0000-0001-5889-4463 Dilated nares https://orcid.org/0000-0001-5889-4463 Dilated nostril https://orcid.org/0000-0001-5889-4463 Enlarged nares https://orcid.org/0000-0001-5889-4463 Enlarged nostril https://orcid.org/0000-0001-5889-4463 Increased diameter of nostril https://orcid.org/0000-0001-5889-4463 Wide nares https://orcid.org/0000-0001-5889-4463 Wide nostril https://orcid.org/0000-0001-5889-4463 The presence of only a single nostril. 2009-05-10T10:33:56Z SNOMEDCT_US:95266003 UMLS:C0685682 Mono nostril One nostril Single nare Single nostril human_phenotype HP:0009932 The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. Single naris HP:0009932 The presence of only a single nostril. PMID:19152422 Mono nostril https://orcid.org/0000-0001-5889-4463 One nostril https://orcid.org/0000-0001-5889-4463 Single nare https://orcid.org/0000-0001-5889-4463 Single nostril Slender, slit-like aperture of the nostril. 2009-05-10T10:35:51Z SNOMEDCT_US:249336003 SNOMEDCT_US:249339005 UMLS:C0426436 UMLS:C0426439 UMLS:C1849366 UMLS:C4280390 Naris, narrow Naris, slit-like Narrow nares Narrow nostrils Slit-like nostrils Small nostrils Thin nares Thin nostrils human_phenotype Collapsed nostrils HP:0009933 Narrow naris HP:0009933 Slender, slit-like aperture of the nostril. https://orcid.org/0000-0002-0736-9199 Narrow nares https://orcid.org/0000-0001-5889-4463 Narrow nostrils https://orcid.org/0000-0001-5889-4463 Slit-like nostrils https://orcid.org/0000-0001-5889-4463 Small nostrils https://orcid.org/0000-0001-5889-4463 Thin nostrils https://orcid.org/0000-0001-5889-4463 Collapsed nostrils https://orcid.org/0000-0001-5889-4463 The presence of more than two nostrils. 2009-05-10T10:37:41Z UMLS:C4021372 Accessory nares Accessory nostril Extra nostril Supernumerary nares Supernumerary nostrils human_phenotype HP:0009934 Supernumerary naris HP:0009934 The presence of more than two nostrils. PMID:19152422 Accessory nares https://orcid.org/0000-0001-5889-4463 Accessory nostril https://orcid.org/0000-0001-5889-4463 Extra nostril https://orcid.org/0000-0001-5889-4463 Supernumerary nares https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of the nasal septum. 2009-05-10T10:40:21Z UMLS:C4024156 Ageneis of nasal septum Underdevelopment of nasal septum Failure of development of nasal septum human_phenotype HP:0009935 Aplasia/Hypoplasia of the nasal septum HP:0009935 Absence or underdevelopment of the nasal septum. https://orcid.org/0000-0002-0736-9199 Ageneis of nasal septum https://orcid.org/0000-0001-5889-4463 Underdevelopment of nasal septum https://orcid.org/0000-0001-5889-4463 Failure of development of nasal septum https://orcid.org/0000-0001-5889-4463 Abnormally narrow nasal septum. 2009-05-10T10:46:40Z UMLS:C4024155 Decreased width of nasal septum Narrow nasal septum Narrow septum of nose Thin nasal septum Thin septum of nose human_phenotype HP:0009936 Narrow nasal septum HP:0009936 Abnormally narrow nasal septum. https://orcid.org/0000-0002-0736-9199 Decreased width of nasal septum https://orcid.org/0000-0001-5889-4463 Narrow nasal septum Narrow septum of nose https://orcid.org/0000-0001-5889-4463 Thin nasal septum https://orcid.org/0000-0001-5889-4463 Thin septum of nose https://orcid.org/0000-0001-5889-4463 Excess facial hair. 2009-05-10T10:58:49Z Excessive face hair UMLS:C1850041 UMLS:C2128203 human_phenotype HP:0009937 Facial hirsutism HP:0009937 Excess facial hair. https://orcid.org/0000-0002-0736-9199 Excessive face hair https://orcid.org/0000-0001-5208-3432 Lack or loss of the soft tissues between the zygomata and mandible. 2009-05-10T11:17:18Z UMLS:C4024154 Depressed cheeks Hollow cheeks Sunken cheeks human_phenotype HP:0009938 Sunken cheeks HP:0009938 Lack or loss of the soft tissues between the zygomata and mandible. PMID:19125436 Depressed cheeks Hollow cheeks Sunken cheeks Absence of the mandible. 2009-05-10T11:27:14Z Agnathia SNOMEDCT_US:91896009 SNOMEDCT_US:91922000 UMLS:C0685775 UMLS:C0685776 UMLS:C4021371 Absence of lower jaw Absence of lower jaw bone Absence of mandible Absent mandible Agenesis of the mandible Aplasia of the lower jaw bone Failure of development of lower jaw Failure of development of mandible Missing lower jaw Absence of lower jaw bones human_phenotype HP:0009939 Mandibular aplasia HP:0009939 Absence of the mandible. https://orcid.org/0000-0002-0736-9199 Agnathia https://orcid.org/0000-0001-5889-4463 Agenesis of the mandible https://orcid.org/0000-0001-5889-4463 Aplasia of the lower jaw bone https://orcid.org/0000-0001-5889-4463 Failure of development of lower jaw https://orcid.org/0000-0001-5889-4463 Failure of development of mandible https://orcid.org/0000-0001-5889-4463 Missing lower jaw https://orcid.org/0000-0001-5889-4463 Absence of lower jaw bones https://orcid.org/0000-0001-5889-4463 Lack of symmetry between the left and right mandible. 2009-05-10T11:28:02Z Tilted mandible SNOMEDCT_US:235082006 UMLS:C0399518 UMLS:C4082201 Asymmetry of lower jaw Canted lower jaw Canted mandible Crooked lower jaw Deviation of lower jaw Deviation of mandible Lower jaw shifted to one side Tilted lower jaw Uneven lower jaw Uneven mandible human_phenotype Deviation of the lower jaw Deviation of the mandible HP:0009940 Asymmetry of the mandible HP:0009940 Lack of symmetry between the left and right mandible. https://orcid.org/0000-0002-0736-9199 Tilted mandible https://orcid.org/0000-0001-5889-4463 Asymmetry of lower jaw Canted lower jaw https://orcid.org/0000-0001-5889-4463 Canted mandible https://orcid.org/0000-0001-5889-4463 Crooked lower jaw https://orcid.org/0000-0001-5889-4463 Lower jaw shifted to one side Tilted lower jaw https://orcid.org/0000-0001-5889-4463 Uneven lower jaw https://orcid.org/0000-0001-5889-4463 Uneven mandible https://orcid.org/0000-0001-5889-4463 Deviation of the lower jaw https://orcid.org/0000-0001-5889-4463 Deviation of the mandible https://orcid.org/0000-0001-5889-4463 The presence of an asymmetric mouth. 2009-05-10T11:30:31Z UMLS:C4024153 Asymmetry of the mouth Canted mouth Crooked mouth Tilted mouth Uneven mouth human_phenotype Asymmetry of oral cavity HP:0009941 Asymmetry of the mouth HP:0009941 The presence of an asymmetric mouth. https://orcid.org/0000-0002-0736-9199 Asymmetry of the mouth Canted mouth https://orcid.org/0000-0001-5889-4463 Crooked mouth https://orcid.org/0000-0001-5889-4463 Tilted mouth https://orcid.org/0000-0001-5889-4463 Uneven mouth https://orcid.org/0000-0001-5889-4463 Asymmetry of oral cavity https://orcid.org/0000-0001-5889-4463 Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-05-15T12:51:02Z HP:0009661 UMLS:C4021370 Complete/partial duplication of phalanges of the thumb Duplicated thumbs Duplication of phalanx of thumb human_phenotype Duplicated thumb HP:0009942 Duplication of thumb phalanx HP:0009942 Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0009-0006-4530-3154 Duplicated thumbs https://orcid.org/0000-0002-5316-1399 A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-15T12:51:35Z HP:0002801 HP:0004067 UMLS:C3554724 Complete duplication of the phalanges of the thumb Complete duplication of thumb bones Digitalization of thumb Digitalization of thumbs human_phenotype HP:0009943 Complete duplication of thumb phalanx HP:0009943 A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of thumb bones https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-15T12:51:57Z HP:0001244 HP:0004070 UMLS:C4082168 Bifid thumb Notching of thumb phalanges Partial duplication of the phalanges of the thumb Partial duplication of the thumb bones human_phenotype HP:0009944 Partial duplication of thumb phalanx HP:0009944 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the thumb bones https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-15T01:00:37Z UMLS:C4021369 Duplication of the bones of index finger Partial/complete duplication of phalanges of the 2nd finger human_phenotype HP:0009945 Duplication of phalanx of 2nd finger HP:0009945 This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0000-0002-0736-9199 Duplication of the bones of index finger https://orcid.org/0000-0001-5208-3432 2009-05-15T01:01:48Z UMLS:C4024152 Extra index finger human_phenotype HP:0009946 Polydactyly affecting the 2nd finger HP:0009946 Extra index finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the second proximal phalanx of hand. 2009-05-15T01:58:58Z UMLS:C4021368 Duplication of the proximal bone of the index finger Partial/complete duplication of the proximal phalanx of the 2nd finger human_phenotype HP:0009947 Duplication of the proximal phalanx of the 2nd finger HP:0009947 Partial or complete duplication of the second proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Partial or complete duplication of the distal phalanx of index finger. 2009-05-15T01:58:58Z HP:0004144 UMLS:C4021367 Partial/complete duplication of the distal phalanx of the 2nd finger Partial/complete duplication of the outermost bone of the index finger human_phenotype HP:0009948 Duplication of the distal phalanx of the 2nd finger HP:0009948 Partial or complete duplication of the distal phalanx of index finger. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the middle phalanx of index finger. 2009-05-15T01:58:58Z UMLS:C4021366 Partial/complete duplication of the middle bone of the index finger Partial/complete duplication of the middle phalanx of the 2nd finger human_phenotype HP:0009949 Duplication of the middle phalanx of the 2nd finger HP:0009949 Partial or complete duplication of the middle phalanx of index finger. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of index finger. 2009-05-15T02:03:28Z UMLS:C4024151 Complete duplication of the outermost bone of the index finger human_phenotype HP:0009950 Complete duplication of the distal phalanx of the 2nd finger HP:0009950 Complete duplication of the distal phalanx of index finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-15T02:03:28Z UMLS:C4021365 Bifid terminal phalanx of the 2nd finger Notched outermost bone of the index finger Partial duplication of the outermost bone of the 2nd finger human_phenotype HP:0009951 Partial duplication of the distal phalanx of the 2nd finger HP:0009951 Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. PMID:29864040 https://orcid.org/0009-0006-4530-3154 Notched outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the 2nd finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle phalanx of index finger. 2009-05-15T02:05:27Z UMLS:C4024150 Complete duplication of the middle bone of the index finger human_phenotype HP:0009952 Complete duplication of the middle phalanx of the 2nd finger HP:0009952 Complete duplication of the middle phalanx of index finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-15T02:05:27Z UMLS:C4024149 Partial duplication of the middle bone of the index finger human_phenotype HP:0009953 Partial duplication of the middle phalanx of the 2nd finger HP:0009953 Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the second proximal phalanx of hand. 2009-05-15T02:06:11Z UMLS:C4024148 Complete duplication of the proximal bone of the index finger human_phenotype HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger HP:0009954 Complete duplication of the second proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Complete duplication of the proximal bone of the index finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. 2009-05-15T02:06:11Z UMLS:C4024147 Partial duplication of the proximal bones of the index finger human_phenotype HP:0009955 Partial duplication of the proximal phalanx of the 2nd finger HP:0009955 Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the proximal bones of the index finger https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-15T02:07:41Z UMLS:C4024146 Partial duplication of the bones of the index finger human_phenotype HP:0009956 Partial duplication of the phalanges of the 2nd finger HP:0009956 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the bones of the index finger https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-15T02:08:02Z UMLS:C4024145 Complete duplication of the bones of the index finger human_phenotype HP:0009957 Complete duplication of the phalanges of the 2nd finger HP:0009957 A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of the bones of the index finger https://orcid.org/0000-0001-5208-3432 2009-05-26T09:54:29Z UMLS:C4024144 Extra middle finger human_phenotype HP:0009958 Polydactyly affecting the 3rd finger HP:0009958 Extra middle finger https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T09:54:51Z UMLS:C4021364 Duplication of middle finger bone Partial/complete duplication of phalanges of the 3rd finger human_phenotype HP:0009959 Duplication of phalanx of 3rd finger HP:0009959 This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of middle finger bone https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-26T12:46:36Z UMLS:C4024143 Complete duplication of middle finger bones human_phenotype HP:0009960 Complete duplication of the phalanges of the 3rd finger HP:0009960 A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of middle finger bones https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T12:46:36Z UMLS:C4024142 Partial duplication of middle finger bones human_phenotype HP:0009961 Partial duplication of the phalanges of the 3rd finger HP:0009961 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of middle finger bones https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of middle finger. 2009-05-26T12:46:36Z UMLS:C4021363 Partial/complete duplication of the distal phalanx of the 3rd finger Partial/complete duplication of the outermost bone of the middle finger human_phenotype HP:0009962 Duplication of the distal phalanx of the 3rd finger HP:0009962 Partial or complete duplication of the distal phalanx of middle finger. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the middle phalanx of middle finger. 2009-05-26T12:46:36Z HP:0004157 HP:0004174 UMLS:C4021362 Duplication of the middle bone of the middle finger Partial/complete duplication of the middle phalanx of the 3rd finger human_phenotype HP:0009963 Duplication of the middle phalanx of the 3rd finger HP:0009963 Partial or complete duplication of the middle phalanx of middle finger. https://orcid.org/0000-0002-0736-9199 Duplication of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the third proximal phalanx of hand. 2009-05-26T12:46:36Z UMLS:C4021361 Duplication of the proximal bone of the middle finger Partial/complete duplication of the proximal phalanx of the 3rd finger human_phenotype HP:0009964 Duplication of the proximal phalanx of the 3rd finger HP:0009964 Partial or complete duplication of the third proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Duplication of the proximal bone of the middle finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of middle finger 2009-05-26T12:49:35Z UMLS:C4024141 Complete duplication of the outermost bone of the 3rd finger human_phenotype HP:0009965 Complete duplication of the distal phalanx of the 3rd finger HP:0009965 Complete duplication of the distal phalanx of middle finger https://orcid.org/0000-0002-0736-9199 Complete duplication of the outermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle phalanx of middle finger. 2009-05-26T12:49:35Z UMLS:C4024140 Complete duplication of the middle bone of the middle finger human_phenotype HP:0009966 Complete duplication of the middle phalanx of the 3rd finger HP:0009966 Complete duplication of the middle phalanx of middle finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the third proximal phalanx of hand. 2009-05-26T12:49:35Z UMLS:C4024139 Complete duplication of the innermost bone of the 3rd finger human_phenotype HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger HP:0009967 Complete duplication of the third proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Complete duplication of the innermost bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T12:49:59Z UMLS:C4021360 Bifid terminal phalanx of the 3rd finger Notched outermost bone of the middle finger Partial duplication of the outermost bone of the middle finger human_phenotype HP:0009968 Partial duplication of the distal phalanx of the 3rd finger HP:0009968 Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Notched outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T12:49:59Z UMLS:C4024138 Partial duplication of the middle bone of the 3rd finger human_phenotype HP:0009969 Partial duplication of the middle phalanx of the 3rd finger HP:0009969 Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle bone of the 3rd finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T12:49:59Z UMLS:C4024137 Partial duplication of the proximal bone of the middle finger human_phenotype HP:0009970 Partial duplication of the proximal phalanx of the 3rd finger HP:0009970 Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the proximal bone of the middle finger https://orcid.org/0000-0001-5208-3432 2009-05-26T02:19:06Z UMLS:C4024136 Extra ring finger human_phenotype HP:0009971 Polydactyly affecting the 4th finger HP:0009971 Extra ring finger https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T02:19:28Z UMLS:C4021359 Duplication of bones of the ring finger Partial/complete duplication of phalanges of the 4th finger human_phenotype HP:0009972 Duplication of phalanx of 4th finger HP:0009972 This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of bones of the ring finger https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-26T02:20:08Z UMLS:C4024135 Complete duplication of the bones of the ring finger human_phenotype HP:0009973 Complete duplication of the phalanges of the 4th finger HP:0009973 A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of the bones of the ring finger https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T02:20:08Z UMLS:C4024134 Partial duplication of the bones of the ring finger human_phenotype HP:0009974 Partial duplication of the phalanges of the 4th finger HP:0009974 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the bones of the ring finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of ring finger. 2009-05-26T02:20:08Z UMLS:C4021358 Partial/complete duplication of the distal phalanx of the 4th finger Partial/complete duplication of the outermost bone of the ring finger human_phenotype HP:0009975 Duplication of the distal phalanx of the 4th finger HP:0009975 Partial or complete duplication of the distal phalanx of ring finger. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the middle phalanx of ring finger. 2009-05-26T02:20:08Z UMLS:C4021357 Partial/complete duplication of the middle bone of the ring finger Partial/complete duplication of the middle phalanx of the 4th finger human_phenotype HP:0009976 Duplication of the middle phalanx of the 4th finger HP:0009976 Partial or complete duplication of the middle phalanx of ring finger. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the fourth proximal phalanx of hand. 2009-05-26T02:20:08Z UMLS:C4021356 Duplication of the proximal bone of the ring finger Partial/complete duplication of the proximal phalanx of the 4th finger human_phenotype HP:0009977 Duplication of the proximal phalanx of the 4th finger HP:0009977 Partial or complete duplication of the fourth proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Duplication of the proximal bone of the ring finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of ring finger. 2009-05-26T02:20:23Z UMLS:C4024133 Complete duplication of the outermost bone of the ring finger human_phenotype HP:0009978 Complete duplication of the distal phalanx of the 4th finger HP:0009978 Complete duplication of the distal phalanx of ring finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle phalanx of ring finger. 2009-05-26T02:20:23Z UMLS:C4024132 Complete duplication of the middle bone of the ring finger human_phenotype HP:0009979 Complete duplication of the middle phalanx of the 4th finger HP:0009979 Complete duplication of the middle phalanx of ring finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Complete duplication of the fourth proximal phalanx of hand. 2009-05-26T02:20:23Z UMLS:C4024131 Complete duplication of the proximal bone of the ring finger human_phenotype HP:0009980 Complete duplication of the proximal phalanx of the 4th finger HP:0009980 Complete duplication of the fourth proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Complete duplication of the proximal bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:20:37Z UMLS:C4021355 Bifid terminal phalanx of the 4th finger Notched outermost bone of the ring finger Partial duplication of the outermost bone of the ring finger human_phenotype HP:0009981 Partial duplication of the distal phalanx of the 4th finger HP:0009981 Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Notched outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:20:37Z UMLS:C4024130 Partial duplication of the middle bone of the ring finger human_phenotype HP:0009982 Partial duplication of the middle phalanx of the 4th finger HP:0009982 Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:20:37Z UMLS:C4024129 Partial duplication of the innermost bone of the ring finger human_phenotype HP:0009983 Partial duplication of the proximal phalanx of the 4th finger HP:0009983 Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 true HP:0009984 This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T02:23:38Z UMLS:C4021354 Partial/complete duplication of little finger bone Partial/complete duplication of phalanges of the 5th finger Partial/complete duplication of pinkie finger bone Partial/complete duplication of pinky finger bone human_phenotype HP:0009985 Duplication of phalanx of 5th finger HP:0009985 This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Partial/complete duplication of little finger bone https://orcid.org/0000-0001-5208-3432 Partial/complete duplication of pinkie finger bone https://orcid.org/0000-0001-5208-3432 Partial/complete duplication of pinky finger bone https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-26T02:24:20Z UMLS:C4024128 Complete duplication of the little finger bone Complete duplication of the pinkie finger bone Complete duplication of the pinky finger bone human_phenotype HP:0009986 Complete duplication of the phalanges of the 5th finger HP:0009986 A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of the little finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the pinkie finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the pinky finger bone https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T02:24:20Z UMLS:C4024127 Partial duplication of the little finger bone Partial duplication of the pinkie finger bone Partial duplication of the pinky finger bone human_phenotype HP:0009987 Partial duplication of the phalanges of the 5th finger HP:0009987 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the little finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the pinkie finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of little finger. 2009-05-26T02:24:20Z UMLS:C4021353 Duplication of the outermost little finger bone Duplication of the outermost pinkie finger bone Duplication of the outermost pinky finger bone Partial/complete duplication of the distal phalanx of the 5th finger human_phenotype HP:0009988 Duplication of the distal phalanx of the 5th finger HP:0009988 Partial or complete duplication of the distal phalanx of little finger. https://orcid.org/0000-0002-0736-9199 Duplication of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the fifth middle phalanx of hand. 2009-05-26T02:24:20Z UMLS:C4021352 Duplication of the middle little finger bone Duplication of the middle pinkie finger bone Duplication of the middle pinky finger bone Partial/complete duplication of the middle phalanx of the 5th finger human_phenotype HP:0009989 Duplication of the middle phalanx of the 5th finger HP:0009989 Partial or complete duplication of the fifth middle phalanx of hand. https://orcid.org/0000-0002-0736-9199 Duplication of the middle little finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the fifth proximal phalanx of hand. 2009-05-26T02:24:20Z UMLS:C4021351 Duplication of the innermost little finger bone Duplication of the innermost pinkie finger bone Duplication of the innermost pinky finger bone Partial/complete duplication of the proximal phalanx of the 5th finger human_phenotype HP:0009990 Duplication of the proximal phalanx of the 5th finger HP:0009990 Partial or complete duplication of the fifth proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Duplication of the innermost little finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Duplication of the innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of little finger. 2009-05-26T02:24:33Z UMLS:C4024126 Complete duplication of the outermost little finger bone Complete duplication of the outermost pinkie finger bone Complete duplication of the outermost pinky finger bone human_phenotype HP:0009991 Complete duplication of the distal phalanx of the 5th finger HP:0009991 Complete duplication of the distal phalanx of little finger. https://orcid.org/0000-0002-0736-9199 Complete duplication of the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the fifth middle phalanx of hand. 2009-05-26T02:24:33Z UMLS:C4024125 Complete duplication of the middle little finger bone Complete duplication of the middle pinkie finger bone Complete duplication of the middle pinky finger bone human_phenotype HP:0009992 Complete duplication of the middle phalanx of the 5th finger HP:0009992 Complete duplication of the fifth middle phalanx of hand. https://orcid.org/0000-0002-0736-9199 Complete duplication of the middle little finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the fifth proximal phalanx of hand. 2009-05-26T02:24:33Z UMLS:C4024124 Complete duplication of the innermost little finger bone Complete duplication of the innermost pinkie finger bone Complete duplication of the innermost pinky finger bone human_phenotype HP:0009993 Complete duplication of the proximal phalanx of the 5th finger HP:0009993 Complete duplication of the fifth proximal phalanx of hand. https://orcid.org/0000-0002-0736-9199 Complete duplication of the innermost little finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:24:47Z UMLS:C4021350 Bifid terminal phalanx of the 5th finger Notched outermost pinky finger bone Partial duplication of outermost little finger bone Partial duplication of outermost pinkie finger bone Partial duplication of outermost pinky finger bone human_phenotype HP:0009994 Partial duplication of the distal phalanx of the 5th finger HP:0009994 Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Notched outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of outermost little finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:24:47Z UMLS:C4024123 Partial duplication of the middle little finger bone Partial duplication of the middle pinkie finger bone Partial duplication of the middle pinky finger bone human_phenotype HP:0009995 Partial duplication of the middle phalanx of the 5th finger HP:0009995 Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle little finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle pinkie finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle pinky finger bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. 2009-05-26T02:24:47Z UMLS:C4024122 Partial duplication of the innermost little finger bone Partial duplication of the innermost pinkie finger bone Partial duplication of the innermost pinky finger bone human_phenotype HP:0009996 Partial duplication of the proximal phalanx of the 5th finger HP:0009996 Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. https://orcid.org/0009-0006-4530-3154 Partial duplication of the innermost little finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Partial duplication of the innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T02:28:25Z HP:0009143 UMLS:C4021349 Duplication of finger bones human_phenotype HP:0009997 Duplication of phalanx of hand HP:0009997 This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of finger bones A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-26T02:30:16Z UMLS:C4024121 Complete duplication of hand bones human_phenotype HP:0009998 Complete duplication of phalanx of hand HP:0009998 A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of hand bones https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T02:30:35Z UMLS:C4024120 Partial duplication of hand bones human_phenotype HP:0009999 Partial duplication of the phalanx of hand HP:0009999 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of hand bones https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. 2009-05-26T03:55:02Z UMLS:C4024119 Complete duplication of the innermost bones of the hand human_phenotype HP:0010000 Complete duplication of the proximal phalanges of the hand HP:0010000 A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. https://orcid.org/0000-0002-0736-9199 Complete duplication of the innermost bones of the hand https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the distal phalanges of the hand. 2009-05-26T03:55:02Z UMLS:C4024118 Complete duplication of the outermost bones of the hand human_phenotype HP:0010001 As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. Complete duplication of the distal phalanges of the hand HP:0010001 A complete duplication affecting one or more of the distal phalanges of the hand. https://orcid.org/0009-0006-4530-3154 Complete duplication of the outermost bones of the hand https://orcid.org/0000-0001-5208-3432 A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. 2009-05-26T03:55:02Z UMLS:C4024117 Complete duplication of the middle bones of the hand human_phenotype HP:0010002 Complete duplication of the middle phalanges of the hand HP:0010002 A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism. https://orcid.org/0009-0006-4530-3154 Complete duplication of the middle bones of the hand https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T03:55:29Z UMLS:C4024116 Partial duplication of the innermost bones of the hand human_phenotype HP:0010003 Partial duplication of the proximal phalanges of the hand HP:0010003 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the innermost bones of the hand https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T03:55:29Z HP:0006196 UMLS:C4021348 Bifid terminal phalanges of the hand Partial duplication of the outermost bone of the hand human_phenotype HP:0010004 Partial duplication of the distal phalanges of the hand HP:0010004 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the outermost bone of the hand https://orcid.org/0000-0001-5208-3432 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. 2009-05-26T03:55:29Z UMLS:C4024115 Partial duplication of the middle bones of hand human_phenotype HP:0010005 Partial duplication of the middle phalanges of the hand HP:0010005 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. https://orcid.org/0000-0002-0736-9199 Partial duplication of the middle bones of hand https://orcid.org/0000-0001-5208-3432 This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T05:29:46Z UMLS:C4021347 Duplication of the innermost bones of hand Partial/complete duplication of the proximal phalanges of the hand human_phenotype HP:0010006 Duplication of the proximal phalanx of hand HP:0010006 This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of the innermost bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0010007 This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. 2009-05-26T05:29:46Z UMLS:C4021346 Duplication of the middle bones of hand Partial/complete duplication of the middle phalanges of the hand human_phenotype HP:0010008 Duplication of the middle phalanx of hand HP:0010008 This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. https://orcid.org/0009-0006-4530-3154 Duplication of the middle bones of hand https://orcid.org/0000-0001-5208-3432 A structural anomaly of the first metacarpal. 2009-05-27T03:35:21Z UMLS:C4024114 Abnormality of the 1st long bone of hand Abnormality of the 1st metacarpal human_phenotype HP:0010009 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. Abnormal 1st metacarpal morphology HP:0010009 A structural anomaly of the first metacarpal. https://orcid.org/0000-0002-0736-9199 Abnormality of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Any abnormality of the second metacarpal bone. 2009-05-27T03:35:21Z UMLS:C4024113 Abnormality of the 2nd long bone of hand Abnormality of the 2nd metacarpal human_phenotype HP:0010010 Abnormal 2nd metacarpal morphology HP:0010010 Any abnormality of the second metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Any abnormality of the third metacarpal bone. 2009-05-27T03:35:21Z UMLS:C4024112 Abnormality of the 3rd long bone of hand Abnormality of the 3rd metacarpal human_phenotype HP:0010011 Abnormal 3rd metacarpal morphology HP:0010011 Any abnormality of the third metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 Any abnormality of the fourth metacarpal bone. 2009-05-27T03:35:21Z UMLS:C4024111 Abnormality of the 4th long bone of hand Abnormality of the 4th metacarpal human_phenotype HP:0010012 Abnormal 4th metacarpal morphology HP:0010012 Any abnormality of the fourth metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 4th long bone of hand https://orcid.org/0000-0001-5208-3432 Any abnormality of the fifth metacarpal bone. 2009-05-27T03:35:21Z UMLS:C4024110 Abnormality of the 5th long bone of hand Abnormality of the 5th metacarpal human_phenotype HP:0010013 Abnormal 5th metacarpal morphology HP:0010013 Any abnormality of the fifth metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 5th long bone of hand https://orcid.org/0000-0001-5208-3432 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. 2009-05-27T03:43:11Z UMLS:C4024109 Abnormality of the end part of the 1st long bone of hand human_phenotype HP:0010014 Abnormality of the epiphysis of the 1st metacarpal HP:0010014 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 2009-05-27T04:02:50Z UMLS:C4024108 Absent end part of the 1st long bone of hand human_phenotype HP:0010015 Absent epiphysis of the 1st metacarpal HP:0010015 Absent end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. 2009-05-27T04:02:50Z UMLS:C4024107 Bracket shaped end part of 1st long bone of hand human_phenotype HP:0010016 Bracket epiphysis of the 1st metacarpal HP:0010016 An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate. PMID:24432108 https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of 1st long bone of hand https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. 2009-05-27T04:02:50Z UMLS:C4024106 Cone-shaped end part of the 1st long bone of hand human_phenotype HP:0010017 Cone-shaped epiphysis of the 1st metacarpal HP:0010017 A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. 2009-05-27T04:02:50Z UMLS:C4024105 Enlarged end part of the 1st long bone of hand human_phenotype HP:0010018 Enlarged epiphysis of the 1st metacarpal HP:0010018 Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Epiphysis of the 1st metacarpal having multiple bony fragments. 2009-05-27T04:02:50Z UMLS:C4024104 Fragmentation of the end part of the 1st long bone of hand human_phenotype HP:0010019 Fragmentation of the epiphysis of the 1st metacarpal HP:0010019 Epiphysis of the 1st metacarpal having multiple bony fragments. https://orcid.org/0000-0002-0736-9199 Fragmentation of the end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Uneven radiographic opacity of the epiphysis of the 1st metacarpal. 2009-05-27T04:02:50Z UMLS:C4024103 Irregular end part of the 1st long bone of hand human_phenotype HP:0010020 Irregular epiphysis of the 1st metacarpal HP:0010020 Uneven radiographic opacity of the epiphysis of the 1st metacarpal. https://orcid.org/0000-0002-0736-9199 Irregular end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. 2009-05-27T04:02:50Z UMLS:C4024102 Increased bone density of end part of the 1st long bone of hand human_phenotype HP:0010021 Ivory epiphysis of the 1st metacarpal HP:0010021 The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. 2009-05-27T04:02:50Z UMLS:C4024101 human_phenotype HP:0010022 This feature can be seen for example in Holt-Oram Syndrome. Pseudoepiphysis of the 1st metacarpal HP:0010022 The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. 2009-05-27T04:02:50Z UMLS:C4024100 Small end part of the 1st long bone of hand human_phenotype HP:0010023 Small epiphysis of the 1st metacarpal HP:0010023 Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. 2009-05-27T04:02:50Z UMLS:C4021345 Speckled calcifications in the end part of the first long bone of hand Stippling of the epiphysis of the 1st metacarpal human_phenotype HP:0010024 Epiphyseal stippling of the first metacarpal HP:0010024 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the first long bone of hand https://orcid.org/0000-0001-5208-3432 2009-05-27T04:02:50Z UMLS:C4024099 Triangular end part of the 1st long bone of hand human_phenotype HP:0010025 Triangular epiphysis of the 1st metacarpal HP:0010025 Triangular end part of the 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). 2009-05-27T04:24:30Z UMLS:C4024098 Absent/small 1st long bone of hand Absent/underdeveloped 1st long bone of hand human_phenotype HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal HP:0010026 Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). https://orcid.org/0000-0002-0736-9199 Absent/small 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. 2009-05-27T04:24:30Z UMLS:C4024097 Wide 1st long bone of hand human_phenotype HP:0010027 Broad 1st metacarpal HP:0010027 Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Wide 1st long bone of hand https://orcid.org/0000-0001-5208-3432 The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). 2009-05-27T04:24:30Z UMLS:C4024096 Bullet-shaped 1st long bone of hand human_phenotype HP:0010028 Bullet-shaped 1st metacarpal HP:0010028 The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped"). https://orcid.org/0000-0002-0736-9199 Bullet-shaped 1st long bone of hand https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of the first metacarpal. 2009-05-27T04:24:30Z UMLS:C4024095 Curved 1st long bone of hand human_phenotype HP:0010029 Curved 1st metacarpal HP:0010029 A deviation from the normal straight shape of the first metacarpal. https://orcid.org/0000-0002-0736-9199 Curved 1st long bone of hand https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the 1st metacarpal. 2009-05-27T04:24:30Z UMLS:C4024094 human_phenotype HP:0010030 Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). Osteolytic defects of the 1st metacarpal HP:0010030 Dissolution or degeneration of bone tissue of the 1st metacarpal. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density within the 1st metacarpal. 2009-05-27T04:24:30Z UMLS:C4024093 Uneven increase in bone density in 1st long bone of hand human_phenotype HP:0010031 Patchy sclerosis of the 1st metacarpal HP:0010031 Uneven increase in bone density within the 1st metacarpal. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in 1st long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0010032 This term applies to a triangular shaped 1st metacarpal. 2009-05-27T04:24:30Z UMLS:C4024092 Triangular shaped 1st long bone of hand human_phenotype HP:0010033 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). Triangular shaped 1st metacarpal HP:0010033 This term applies to a triangular shaped 1st metacarpal. https://orcid.org/0000-0002-0736-9199 Triangular shaped 1st long bone of hand https://orcid.org/0000-0001-5208-3432 A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. 2009-05-27T04:24:50Z HP:0001190 HP:0001499 HP:0005898 HP:0006141 UMLS:C1849311 First metacarpal hypoplasia First metacarpals hypoplastic Hypoplastic 1st metacarpal Short first metacarpal Short first metacarpals Shortened 1st long bone of hand human_phenotype HP:0010034 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Short 1st metacarpal HP:0010034 A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. https://orcid.org/0000-0002-0736-9199 Shortened 1st long bone of hand https://orcid.org/0000-0001-5208-3432 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Absent first metacarpal (long bone) of the hand. 2009-05-27T04:25:14Z HP:0006027 UMLS:C1838610 Absent 1st long bone of hand Absent first metacarpal human_phenotype HP:0010035 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Aplasia of the 1st metacarpal HP:0010035 Absent first metacarpal (long bone) of the hand. https://orcid.org/0000-0002-0736-9199 Absent 1st long bone of hand https://orcid.org/0000-0001-5208-3432 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. https://orcid.org/0000-0002-0736-9199 Aplasia or Hypoplasia affecting the 2nd metacarpal. 2009-05-27T04:34:44Z UMLS:C4024091 Absent/small 2nd long bone of hand Absent/underdeveloped 2nd long bone of hand human_phenotype HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal HP:0010036 Aplasia or Hypoplasia affecting the 2nd metacarpal. https://orcid.org/0000-0002-0736-9199 Absent/small 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Absence of the second long bone of the hand. 2009-05-27T04:35:04Z UMLS:C4024090 Absent 2nd long bone of hand human_phenotype HP:0010037 Aplasia of the 2nd metacarpal HP:0010037 Absence of the second long bone of the hand. https://orcid.org/0000-0002-0736-9199 Absent 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Short second metacarpal bone because of developmental hypoplasia. 2009-05-27T04:35:04Z HP:0006231 UMLS:C1969397 UMLS:C4020774 Rudimentary 2nd metacarpal Shortened 2nd long bone of hand human_phenotype Hypoplastic 2nd metacarpal HP:0010038 Short 2nd metacarpal HP:0010038 Short second metacarpal bone because of developmental hypoplasia. https://orcid.org/0000-0002-0736-9199 Shortened 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 Aplasia or Hypoplasia affecting the 3rd metacarpal. 2009-05-27T04:35:51Z UMLS:C4024089 Absent/small 3rd long bone of hand Absent/underdeveloped 3rd long bone of hand human_phenotype HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal HP:0010039 Aplasia or Hypoplasia affecting the 3rd metacarpal. https://orcid.org/0000-0002-0736-9199 Absent/small 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 Absence of the third long bone of the hand. 2009-05-27T04:36:08Z UMLS:C4024088 Absent 3rd long bone of hand human_phenotype HP:0010040 Aplasia of the 3rd metacarpal HP:0010040 Absence of the third long bone of the hand. https://orcid.org/0000-0002-0736-9199 Absent 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 Short third metacarpal bone. 2009-05-27T04:36:08Z HP:0005624 HP:0006074 HP:0006120 UMLS:C1850631 Hypoplastic 3rd metacarpal Short third metacarpals Shortened 3rd long bone of hand Small 3rd metacarpals human_phenotype HP:0010041 Short 3rd metacarpal HP:0010041 Short third metacarpal bone. https://orcid.org/0000-0002-0736-9199 Shortened 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 Aplasia or Hypoplasia affecting the 4th metacarpal. 2009-05-27T04:36:49Z UMLS:C4024087 Absent/small 4th long bone of hand Absent/underdeveloped 4th long bone of hand human_phenotype HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal HP:0010042 Aplasia or Hypoplasia affecting the 4th metacarpal. https://orcid.org/0000-0002-0736-9199 Absent/small 4th long bone of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 4th long bone of hand https://orcid.org/0000-0001-5208-3432 Absence of the fourth long bone of the hand. 2009-05-27T04:37:00Z UMLS:C4024086 Absent 4th long bone of hand human_phenotype HP:0010043 Aplasia of the 4th metacarpal HP:0010043 Absence of the fourth long bone of the hand. https://orcid.org/0000-0002-0736-9199 Absent 4th long bone of hand https://orcid.org/0000-0001-5208-3432 Short fourth metacarpal bone. 2009-05-27T04:37:00Z HP:0005094 UMLS:C1840309 Hypoplastic fourth metacarpal Short 4th metacarpals Short fourth metacarpals Shortened 4th long bone of hand human_phenotype HP:0010044 Short 4th metacarpal HP:0010044 Short fourth metacarpal bone. https://orcid.org/0000-0002-0736-9199 Shortened 4th long bone of hand https://orcid.org/0000-0001-5208-3432 Aplasia or Hypoplasia affecting the 5th metacarpal. 2009-05-27T04:37:31Z UMLS:C4024085 Absent/small 5th long bone of hand Absent/underdeveloped 5th long bone of hand human_phenotype HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal HP:0010045 Aplasia or Hypoplasia affecting the 5th metacarpal. https://orcid.org/0000-0002-0736-9199 Absent/small 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Absence of the fifth long bone of the hand. 2009-05-27T04:37:44Z HP:0006103 UMLS:C1867929 Absent 5th long bone of hand Absent 5th metacarpal human_phenotype HP:0010046 Aplasia of the 5th metacarpal HP:0010046 Absence of the fifth long bone of the hand. https://orcid.org/0000-0002-0736-9199 Absent 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Short fifth metacarpal bone. 2009-05-27T04:37:44Z HP:0005737 HP:0006004 HP:0006222 UMLS:C1861388 Fifth metacarpal hypoplasia Hypoplastic 5th metacarpal Short fifth metacarpal Short fifth metacarpals Shortened 5th long bone of hand human_phenotype HP:0010047 Short 5th metacarpal HP:0010047 Short fifth metacarpal bone. https://orcid.org/0000-0002-0736-9199 Shortened 5th long bone of hand https://orcid.org/0000-0001-5208-3432 Developmental defect associated with absence of one or more metacarpal bones. 2009-05-27T04:40:58Z HP:0005911 UMLS:C1846473 Absent long bone of hand Absent metacarpal Absent metacarpals human_phenotype HP:0010048 Aplasia of metacarpal bones HP:0010048 Developmental defect associated with absence of one or more metacarpal bones. https://orcid.org/0000-0002-0736-9199 Absent long bone of hand https://orcid.org/0000-0001-5208-3432 Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. 2009-05-27T04:40:58Z HP:0001164 HP:0005695 HP:0005717 HP:0005909 HP:0006047 HP:0006183 HP:0006186 UMLS:C1837084 Brachymetacarpalia Hypoplastic metacarpal Metacarpal hypoplasia Short metacarpals Shortened long bone of hand Shortened long bones of hand Shortened metacarpals Shortening of metacarpals human_phenotype Short metacarpal bones HP:0010049 Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. Short metacarpal HP:0010049 Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. PMID:19125433 Shortened long bone of hand https://orcid.org/0000-0001-5208-3432 Short metacarpal bones https://orcid.org/0000-0002-5316-1399 true HP:0010050 Displacement of the big toe from its normal position. 2009-05-29T11:36:44Z HP:0004700 UMLS:C4021344 Displacement of big toe Displacement of the hallux human_phenotype HP:0010051 Deviation of the hallux HP:0010051 Displacement of the big toe from its normal position. https://orcid.org/0000-0002-0736-9199 Displacement of big toe https://orcid.org/0000-0001-5208-3432 An abnormal shape or form of the proximal phalanx of the big toe. 2009-05-29T11:47:46Z UMLS:C4024084 Abnormal innermost big toe bone Abnormality of the proximal phalanx of the hallux human_phenotype HP:0010052 In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. Abnormal morphology of the proximal phalanx of the hallux HP:0010052 An abnormal shape or form of the proximal phalanx of the big toe. https://orcid.org/0000-0002-0736-9199 Abnormal innermost big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T11:49:11Z UMLS:C4024083 Abnormality of the outermost bone of the big toe human_phenotype HP:0010053 Abnormality of the distal phalanx of the hallux HP:0010053 Abnormality of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 An anomaly of the first metatarsal bone. 2009-05-29T11:49:54Z UMLS:C4024082 Abnormality of the 1st long bone of foot human_phenotype HP:0010054 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. Abnormality of the first metatarsal bone HP:0010054 An anomaly of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Visible increase in width of the hallux without an increase in the dorso-ventral dimension. 2009-05-29T11:56:24Z HP:0001834 HP:0003094 HP:0004710 HP:0005883 UMLS:C1867131 Abnormally broad great toes Broad big toe Broad great toe Broad great toes Broad halluces Wide big toe human_phenotype HP:0010055 Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. Broad hallux HP:0010055 Visible increase in width of the hallux without an increase in the dorso-ventral dimension. PMID:19125433 Broad big toe https://orcid.org/0000-0001-5208-3432 Broad halluces https://orcid.org/0000-0002-5316-1399 Wide big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:00:08Z UMLS:C4024081 Abnormality of the end part of the big toe bone human_phenotype HP:0010056 Abnormality of the epiphyses of the hallux HP:0010056 Abnormality of the end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T12:00:08Z UMLS:C4024080 Abnormal big toe bones Abnormality of the phalanges of the hallux human_phenotype HP:0010057 Abnormal hallux phalanx morphology HP:0010057 Abnormal big toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T12:10:46Z UMLS:C4024079 Absent/small big toe bone Absent/underdeveloped big toe bone human_phenotype HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux HP:0010058 Absent/small big toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped big toe bone https://orcid.org/0000-0001-5208-3432 An increase in width in one or more phalanges of the big toe. 2009-05-29T12:10:46Z UMLS:C4021343 Broad bone of big toe Broad phalanges of the hallux Wide bone of big toe human_phenotype HP:0010059 Broad hallux phalanx HP:0010059 An increase in width in one or more phalanges of the big toe. https://orcid.org/0000-0002-0736-9199 Broad bone of big toe https://orcid.org/0000-0001-5208-3432 Wide bone of big toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T12:10:46Z UMLS:C4021342 Bullet-shaped bone of big toe Bullet-shaped phalanges of the hallux human_phenotype HP:0010060 Bullet-shaped hallux phalanx HP:0010060 An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bone of big toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more phalanges of the big toe. 2009-05-29T12:10:46Z UMLS:C4021341 Curve bones of big toe Curved phalanges of the hallux human_phenotype HP:0010061 Curved hallux phalanx HP:0010061 A deviation from the normal straight form of one or more phalanges of the big toe. https://orcid.org/0000-0002-0736-9199 Curve bones of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:10:46Z UMLS:C4024078 human_phenotype HP:0010062 Osteolytic defects of the phalanges of the hallux HP:0010062 Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-05-29T12:10:46Z UMLS:C4021340 Patchy sclerosis of the phalanges of the hallux Uneven increase in bone density in big toe bone human_phenotype HP:0010063 Patchy sclerosis of hallux phalanx HP:0010063 Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in big toe bone https://orcid.org/0000-0001-5208-3432 HP:0010091 2009-05-29T12:10:46Z human_phenotype HP:0010064 obsolete Symphalangism affecting the phalanges of the hallux true HP:0010064 2009-05-29T12:10:46Z UMLS:C4024077 Triangular shaped bones of big toe human_phenotype HP:0010065 Triangular shaped phalanges of the hallux HP:0010065 Triangular shaped bones of big toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of one or more phalanx of big toe. 2009-05-29T12:10:46Z HP:0001784 HP:0005785 HP:0005851 UMLS:C1860164 UMLS:C4020691 Duplicated hallux Duplication of big toe bone Duplication of great toes Duplication of phalanx of big toe Hallucal duplication Partial/complete duplication of the phalanges of the hallux human_phenotype HP:0010066 Duplication of phalanx of hallux HP:0010066 Partial or complete duplication of one or more phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Duplication of big toe bone https://orcid.org/0000-0001-5208-3432 Duplication of great toes Absence or underdevelopment of the first metatarsal bone. 2009-05-29T12:13:57Z UMLS:C4024076 Absent/small 1st long bone of foot Absent/underdeveloped 1st long bone of foot human_phenotype HP:0010067 Aplasia/hypoplasia of the 1st metatarsal HP:0010067 Absence or underdevelopment of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Absent/small 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Increased side-to-side width of the first metatarsal bone. 2009-05-29T12:13:57Z HP:0004709 HP:0008085 HP:0008139 UMLS:C1855899 Broad 1st metatarsal Enlarged first metatarsal Wide 1st long bone of foot human_phenotype HP:0010068 Broad first metatarsal HP:0010068 Increased side-to-side width of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Wide 1st long bone of foot https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. 2009-05-29T12:13:57Z UMLS:C4024075 Bullet-shaped 1st long bone of foot human_phenotype HP:0010069 Bullet-shaped 1st metatarsal HP:0010069 An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped 1st long bone of foot https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. 2009-05-29T12:13:57Z UMLS:C4024074 Curved 1st long bone of foot human_phenotype HP:0010070 Curved 1st metatarsal HP:0010070 A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone. https://orcid.org/0000-0002-0736-9199 Curved 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the first metatarsal. 2009-05-29T12:13:57Z UMLS:C4024073 human_phenotype HP:0010071 Osteolytic defects of the 1st metatarsal HP:0010071 Dissolution or degeneration of bone tissue of the first metatarsal. https://orcid.org/0000-0002-0736-9199 2009-05-29T12:13:57Z UMLS:C4024072 Uneven increase in bone density of the 1st long bone of foot human_phenotype HP:0010072 Patchy sclerosis of the 1st metatarsal HP:0010072 Uneven increase in bone density of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T12:13:57Z UMLS:C4024071 Fusion involving the 1st long bone of foot human_phenotype HP:0010073 Synostosis involving the 1st metatarsal HP:0010073 Fusion involving the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T12:13:57Z UMLS:C4024070 Triangular shaped 1st long bone of foot human_phenotype HP:0010074 Triangular shaped 1st metatarsal HP:0010074 Triangular shaped 1st long bone of foot https://orcid.org/0000-0001-5208-3432 A developmental defect consisting in the duplication of the first metatarsal bone. 2009-05-29T12:13:57Z UMLS:C1851855 Duplicated 1st long bone of foot Duplicated first metatarsals human_phenotype HP:0010075 Duplication of the 1st metatarsal HP:0010075 A developmental defect consisting in the duplication of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Duplicated 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T12:16:28Z UMLS:C4024069 Absent/small outermost big toe bone Absent/underdeveloped outermost big toe bone human_phenotype HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux HP:0010076 Absent/small outermost big toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost big toe bone https://orcid.org/0000-0001-5208-3432 An increase in width of the distal phalanx of the big toe. 2009-05-29T12:16:28Z UMLS:C4024068 Broad outermost bone of big toe Wide outermost bone of big toe human_phenotype HP:0010077 Broad distal phalanx of the hallux HP:0010077 An increase in width of the distal phalanx of the big toe. https://orcid.org/0000-0002-0736-9199 Broad outermost bone of big toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of big toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T12:16:28Z UMLS:C4024067 Bullet-shaped outermost bone of big toe human_phenotype HP:0010078 Bullet-shaped distal phalanx of the hallux HP:0010078 An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of big toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the distal phalanx of the big toe. 2009-05-29T12:16:28Z UMLS:C4024066 Curved outermost bone of big toe human_phenotype HP:0010079 Curved distal phalanx of the hallux HP:0010079 A deviation from the normal straight form of the distal phalanx of the big toe. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:16:28Z UMLS:C4024065 human_phenotype HP:0010080 Osteolytic defects of the distal phalanx of the hallux HP:0010080 2009-05-29T12:16:28Z UMLS:C4024064 Uneven increase in bone density in the outermost bone of big toe human_phenotype HP:0010081 Patchy sclerosis of the distal phalanx of the hallux HP:0010081 Uneven increase in bone density in the outermost bone of big toe https://orcid.org/0000-0001-5208-3432 HP:0010091 2009-05-29T12:16:28Z human_phenotype HP:0010082 obsolete Symphalangism affecting the distal phalanx of the hallux true HP:0010082 2009-05-29T12:16:28Z UMLS:C4024062 Triangular shaped outermost bone of the big toe human_phenotype HP:0010083 Triangular shaped distal phalanx of the hallux HP:0010083 Triangular shaped outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:16:28Z UMLS:C4021339 Duplication of the outermost bone of big toe Partial/complete duplication of the distal phalanx of the hallux human_phenotype HP:0010084 Duplication of the distal phalanx of the hallux HP:0010084 Duplication of the outermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:17:16Z UMLS:C4024061 Absent/small innermost big toe bone Absent/underdeveloped innermost big toe bone human_phenotype HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the hallux HP:0010085 Absent/small innermost big toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost big toe bone https://orcid.org/0000-0001-5208-3432 Increased width of proximal phalanx of big toe. 2009-05-29T12:17:16Z UMLS:C4021338 Broad innermost bone of the big toe Broad proximal phalanx of the big toe human_phenotype HP:0010086 Broad proximal phalanx of the hallux HP:0010086 Increased width of proximal phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Broad innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T12:17:16Z UMLS:C4024060 Bullet-shaped innermost bone of the big toe human_phenotype HP:0010087 Bullet-shaped proximal phalanx of the hallux HP:0010087 An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the proximal phalanx of the big toe. 2009-05-29T12:17:16Z UMLS:C4024059 Curved innermost bone of the big toe human_phenotype HP:0010088 Curved proximal phalanx of the hallux HP:0010088 A deviation from the normal straight form of the proximal phalanx of the big toe. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:17:16Z UMLS:C4024058 human_phenotype HP:0010089 Osteolytic defects of the proximal phalanx of the hallux HP:0010089 2009-05-29T12:17:16Z UMLS:C4024057 Uneven increase in bone density in the innermost bone of the big toe human_phenotype HP:0010090 Patchy sclerosis of the proximal phalanx of the hallux HP:0010090 Uneven increase in bone density in the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:17:16Z HP:0004687 HP:0010064 HP:0010082 UMLS:C4024056 Bony fusion of the two phalanges of the hallux (big toe) Fused innermost bone of big toe Hallux interphalangeal synostosis human_phenotype HP:0010091 Hallux symphalangism HP:0010091 Fused innermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:17:16Z UMLS:C4024055 Triangular shaped innermost bone of big toe human_phenotype HP:0010092 Triangular shaped proximal phalanx of the hallux HP:0010092 Triangular shaped innermost bone of big toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the proximal phalanx of big toe. 2009-05-29T12:17:16Z UMLS:C4024054 Duplication of the innermost bone of big toe human_phenotype HP:0010093 Duplication of the proximal phalanx of the hallux HP:0010093 Partial or complete duplication of the proximal phalanx of big toe. https://orcid.org/0009-0006-4530-3154 Duplication of the innermost bone of big toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the proximal phalanx of big toe. 2009-05-29T12:18:59Z UMLS:C4024053 Complete duplication of the innermost bone of big toe human_phenotype HP:0010094 Complete duplication of the proximal phalanx of the hallux HP:0010094 Complete duplication of the proximal phalanx of big toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the innermost bone of big toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the proximal phalanx of big toe. 2009-05-29T12:18:59Z UMLS:C4024052 Partial duplication of the innermost bone of big toe human_phenotype HP:0010095 Partial duplication of the proximal phalanx of the hallux HP:0010095 Partial duplication of the proximal phalanx of big toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the innermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:19:30Z UMLS:C4024051 Complete duplication of the outermost bone of the big toe human_phenotype HP:0010096 Complete duplication of the distal phalanx of the hallux HP:0010096 Complete duplication of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:19:30Z HP:0008091 UMLS:C4021337 Bifid distal phalanx of hallux Notched outermost bone of big toe Partial duplication of the outermost bone of big toe human_phenotype HP:0010097 Partial duplication of the distal phalanx of the hallux HP:0010097 Notched outermost bone of big toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of big toe https://orcid.org/0000-0001-5208-3432 A developmental defect consisting in the complete duplication of the first metatarsal bone. 2009-05-29T12:20:12Z HP:0008121 UMLS:C4024050 Complete duplication of the 1st long bone of foot human_phenotype HP:0010098 Complete duplication of the 1st metatarsal HP:0010098 A developmental defect consisting in the complete duplication of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Complete duplication of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 A developmental defect consisting in the duplication of part of the first metatarsal bone. 2009-05-29T12:20:12Z UMLS:C4024049 Partial duplication of the 1st long bone of foot human_phenotype HP:0010099 Partial duplication of the 1st metatarsal HP:0010099 A developmental defect consisting in the duplication of part of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Partial duplication of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Complete duplication of one or more phalanx of big toe. 2009-05-29T12:22:12Z UMLS:C4021336 Complete duplication of big toe bones Complete duplication of the phalanges of the hallux human_phenotype HP:0010100 Complete duplication of hallux phalanx HP:0010100 Complete duplication of one or more phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Complete duplication of big toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T12:22:12Z HP:0004678 UMLS:C1855005 Partial duplication of big toe partial duplication of hallux human_phenotype HP:0010101 Partial duplication of the phalanges of the hallux HP:0010101 Partial duplication of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:41:37Z UMLS:C4024048 Absent outermost bone of big toe human_phenotype HP:0010102 Aplasia of the distal phalanx of the hallux HP:0010102 Absent outermost bone of big toe https://orcid.org/0000-0001-5208-3432 Underdevelopment (hypoplasia) of the distal phalanx of big toe. 2009-05-29T12:41:37Z UMLS:C4021335 Hypoplastic/small distal phalanx of the hallux Small distal phalanx of big toe Small distal phalanx of hallux Small outermost bone of big toe human_phenotype HP:0010103 Short distal phalanx of hallux HP:0010103 Underdevelopment (hypoplasia) of the distal phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Small outermost bone of big toe https://orcid.org/0000-0001-5208-3432 A developmental defect characterized by the absence of the first metatarsal bone. 2009-05-29T12:42:09Z HP:0006124 UMLS:C1863382 Absent 1st long bone of foot Absent 1st metatarsal Aplasia of the 1st metatarsal human_phenotype HP:0010104 Absent first metatarsal HP:0010104 A developmental defect characterized by the absence of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Absent 1st long bone of foot https://orcid.org/0000-0001-5208-3432 Short first metatarsal bone. 2009-05-29T12:42:09Z HP:0004680 UMLS:C1841688 First metatarsal hypoplasia First metatarsals hypoplastic Short 1st long bone of foot human_phenotype HP:0010105 Short first metatarsal HP:0010105 Short first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Short 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T12:43:40Z UMLS:C4024047 Absent innermost bone of big toe human_phenotype HP:0010106 Aplasia of the proximal phalanx of the hallux HP:0010106 Absent innermost bone of big toe https://orcid.org/0000-0001-5208-3432 Underdevelopment (hypoplasia) of the proximal phalanx of big toe. 2009-05-29T12:43:40Z HP:0008101 HP:0008129 UMLS:C1862159 Hypoplastic proximal phalanx of the hallux Short innermost big toe bone Short proximal phalanges of halluces Short proximal phalanx of halluces Small proximal phalanx of big toe Small proximal phalanx of hallux human_phenotype HP:0010107 Short proximal phalanx of hallux HP:0010107 Underdevelopment (hypoplasia) of the proximal phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Short innermost big toe bone https://orcid.org/0000-0001-5208-3432 true HP:0010108 Underdevelopment (hypoplasia) of the big toe. 2009-05-29T12:46:14Z HP:0001843 HP:0001861 HP:0005610 HP:0008105 UMLS:C1865992 Hypoplastic big toes Hypoplastic hallux Short big toe Short halluces Small hallux human_phenotype HP:0010109 Short hallux HP:0010109 Underdevelopment (hypoplasia) of the big toe. https://orcid.org/0000-0002-0736-9199 Short big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T12:49:19Z UMLS:C4024046 Absent bone of big toe human_phenotype HP:0010110 Aplasia of the phalanges of the hallux HP:0010110 Absent bone of big toe https://orcid.org/0000-0001-5208-3432 Underdevelopment (hypoplasia) of a phalanx of big toe. 2009-05-29T12:49:19Z UMLS:C4021334 Hypoplastic phalanges of the hallux Short bone of big toe human_phenotype HP:0010111 Short phalanx of hallux HP:0010111 Underdevelopment (hypoplasia) of a phalanx of big toe. https://orcid.org/0000-0002-0736-9199 Hypoplastic phalanges of the hallux Short bone of big toe https://orcid.org/0000-0001-5208-3432 The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. 2009-05-29T01:11:06Z UMLS:C4021333 Central polydactyly of feet human_phenotype HP:0010112 Mesoaxial foot polydactyly HP:0010112 The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. https://orcid.org/0000-0002-0736-9199 Central polydactyly of feet Failure to form (agenesis) of one or more epiphyses of the big toe. 2009-05-29T01:16:38Z UMLS:C4020906 Absent end part of big toe bone Absent epiphyses of the hallux human_phenotype HP:0010113 Absent hallux epiphysis HP:0010113 Failure to form (agenesis) of one or more epiphyses of the big toe. https://orcid.org/0000-0002-0736-9199 Absent end part of big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024045 Bracket shaped end part of big toe bone human_phenotype HP:0010114 Bracket epiphyses of the hallux HP:0010114 Bracket shaped end part of big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024044 Cone-shaped end part of the big toe bone human_phenotype HP:0010115 Cone-shaped epiphyses of the hallux HP:0010115 Cone-shaped end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024043 Enlarged end part of the big toe bone human_phenotype HP:0010116 Enlarged epiphyses of the hallux HP:0010116 Enlarged end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024042 Fragmentation of the end part of the big toe bone human_phenotype HP:0010117 Fragmentation of the epiphyses of the hallux HP:0010117 Fragmentation of the end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024041 Irregular end part of big toe bone human_phenotype HP:0010118 Irregular epiphyses of the hallux HP:0010118 Irregular end part of big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024040 Increased bone density of end part of the big toe bone human_phenotype HP:0010119 Ivory epiphyses of the hallux HP:0010119 Increased bone density of end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024039 human_phenotype HP:0010120 Pseudoepiphyses of the hallux HP:0010120 2009-05-29T01:16:38Z UMLS:C4024038 Small end part of the big toe bone human_phenotype HP:0010121 Small epiphyses of the hallux HP:0010121 Small end part of the big toe bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. 2009-05-29T01:16:38Z UMLS:C4024037 Speckled calcifications in the end part of the big toe bone human_phenotype HP:0010122 Stippling of the epiphyses of the hallux HP:0010122 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:16:38Z UMLS:C4024036 Triangular end part of the big toe bone human_phenotype HP:0010123 Triangular epiphyses of the hallux HP:0010123 Triangular end part of the big toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:17:54Z UMLS:C4024035 Abnormality of the end part of the outermost bone of the big toe bone human_phenotype HP:0010124 Abnormality of the epiphysis of the distal phalanx of the hallux HP:0010124 Abnormality of the end part of the outermost bone of the big toe bone https://orcid.org/0000-0001-5208-3432 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. 2009-05-29T01:17:54Z UMLS:C4024034 Abnormality of the end part of the 1st long bone of foot human_phenotype HP:0010125 Abnormality of the epiphysis of the 1st metatarsal HP:0010125 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. 2009-05-29T01:17:54Z UMLS:C4024033 Abnormality of the end part of the innermost bone of the big toe human_phenotype HP:0010126 Abnormality of the epiphysis of the proximal phalanx of the hallux HP:0010126 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. 2009-05-29T01:22:23Z UMLS:C4024032 Absent end part of the innermost bone of the big toe human_phenotype HP:0010127 Absent epiphysis of the proximal phalanx of the hallux HP:0010127 Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux. https://orcid.org/0000-0002-0736-9199 Absent end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. 2009-05-29T01:22:23Z UMLS:C4024031 Bracket shaped end part of the innermost bone of big toe human_phenotype HP:0010128 Bracket epiphysis of the proximal phalanx of the hallux HP:0010128 The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the innermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024030 Cone-shaped end part of the innermost bone of the big toe human_phenotype HP:0010129 Cone-shaped epiphysis of the proximal phalanx of the hallux HP:0010129 Cone-shaped end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024029 Enlarged end part of the innermost bone of the big toe human_phenotype HP:0010130 Enlarged epiphysis of the proximal phalanx of the hallux HP:0010130 Enlarged end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024028 Fragmentation of the end part of the innermost bone of the big toe human_phenotype HP:0010131 Fragmentation of the epiphysis of the proximal phalanx of the hallux HP:0010131 Fragmentation of the end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024027 Irregular end part of the innermost bone of the big toe human_phenotype HP:0010132 Irregular epiphysis of the proximal phalanx of the hallux HP:0010132 Irregular end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024026 Increased bone density of end part of the innermost bone of the big toe human_phenotype HP:0010133 Ivory epiphysis of the proximal phalanx of the hallux HP:0010133 Increased bone density of end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe. 2009-05-29T01:22:23Z UMLS:C4024025 human_phenotype HP:0010134 Pseudoepiphysis of the proximal phalanx of the hallux HP:0010134 2009-05-29T01:22:23Z UMLS:C4024024 Small end part of the innermost bone of the big toe human_phenotype HP:0010135 Small epiphysis of the proximal phalanx of the hallux HP:0010135 Small end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. 2009-05-29T01:22:23Z UMLS:C4024023 Speckled calcifications in the end part of the innermost bone of the big toe human_phenotype HP:0010136 Stippling of the epiphysis of the proximal phalanx of the hallux HP:0010136 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:23Z UMLS:C4024022 Triangular end part of the innermost bone of the big toe human_phenotype HP:0010137 Triangular epiphysis of the proximal phalanx of the hallux HP:0010137 Triangular end part of the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. 2009-05-29T01:22:47Z UMLS:C4024021 Absent end part of the outermost bone of the big toe human_phenotype HP:0010138 Absent epiphysis of the distal phalanx of the hallux HP:0010138 Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux. https://orcid.org/0000-0002-0736-9199 Absent end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. 2009-05-29T01:22:47Z UMLS:C4024020 Bracket shaped end part of the outermost bone of big toe human_phenotype HP:0010139 Bracket epiphysis of the distal phalanx of the hallux HP:0010139 The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of the outermost bone of big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024019 Cone-shaped end part of the outermost bone of the big toe human_phenotype HP:0010140 Cone-shaped epiphysis of the distal phalanx of the hallux HP:0010140 Cone-shaped end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024018 Enlarged end part of the outermost bone of the big toe human_phenotype HP:0010141 Enlarged epiphysis of the distal phalanx of the hallux HP:0010141 Enlarged end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024017 Fragmentation of the end part of the outermost bone of the big toe human_phenotype HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the hallux HP:0010142 Fragmentation of the end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024016 Irregular end part of the outermost bone of the big toe human_phenotype HP:0010143 Irregular epiphysis of the distal phalanx of the hallux HP:0010143 Irregular end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024015 Increased bone density of end part of the outermost bone of the big toe human_phenotype HP:0010144 Ivory epiphysis of the distal phalanx of the hallux HP:0010144 Increased bone density of end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024014 human_phenotype HP:0010145 Pseudoepiphysis of the distal phalanx of the hallux HP:0010145 2009-05-29T01:22:47Z UMLS:C4024013 Small end part of the outermost bone of the big toe human_phenotype HP:0010146 Small epiphysis of the distal phalanx of the hallux HP:0010146 Small end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. 2009-05-29T01:22:47Z UMLS:C4024012 Speckled calcifications in the end part of the outermost bone of the big toe human_phenotype HP:0010147 Stippling of the epiphysis of the distal phalanx of the hallux HP:0010147 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:22:47Z UMLS:C4024011 Triangular end part of the outermost bone of the big toe human_phenotype HP:0010148 Triangular epiphysis of the distal phalanx of the hallux HP:0010148 Triangular end part of the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 Failure to form (agenesis) of the epiphysis of the 1st metatarsal. 2009-05-29T01:24:17Z UMLS:C4024010 Absent end part of the 1st long bone of foot human_phenotype HP:0010149 Absent epiphysis of the 1st metatarsal HP:0010149 Failure to form (agenesis) of the epiphysis of the 1st metatarsal. https://orcid.org/0000-0002-0736-9199 Absent end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. 2009-05-29T01:24:17Z UMLS:C4024009 Bracket shaped end part of 1st long bone of foot human_phenotype HP:0010150 Bracket epiphysis of the 1st metatarsal HP:0010150 The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form. https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of 1st long bone of foot https://orcid.org/0000-0001-5208-3432 A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. 2009-05-29T01:24:17Z UMLS:C4024008 Cone-shaped end part of the 1st long bone of foot human_phenotype HP:0010151 Cone-shaped epiphysis of the 1st metatarsal HP:0010151 A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024007 Enlarged end part of the 1st long bone of foot human_phenotype HP:0010152 Enlarged epiphysis of the 1st metatarsal HP:0010152 Enlarged end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024006 Fragmentation of the end part of the 1st long bone of foot human_phenotype HP:0010153 Fragmentation of the epiphysis of the 1st metatarsal HP:0010153 Fragmentation of the end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024005 Irregular end part of the 1st long bone of foot human_phenotype HP:0010154 Irregular epiphysis of the 1st metatarsal HP:0010154 Irregular end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. 2009-05-29T01:24:17Z UMLS:C4024004 Increased bone density of end part of the 1st long bone of foot human_phenotype HP:0010155 Ivory epiphysis of the 1st metatarsal HP:0010155 The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024003 human_phenotype HP:0010156 Pseudoepiphysis of the 1st metatarsal HP:0010156 2009-05-29T01:24:17Z UMLS:C4024002 Small end part of the 1st long bone of foot human_phenotype HP:0010157 Small epiphysis of the 1st metatarsal HP:0010157 Small end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024001 Speckled calcifications in the end part of the 1st long bone of foot human_phenotype HP:0010158 Stippling of the epiphysis of the 1st metatarsal HP:0010158 Speckled calcifications in the end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:24:17Z UMLS:C4024000 Triangular end part of the 1st long bone of foot human_phenotype HP:0010159 Triangular epiphysis of the 1st metatarsal HP:0010159 Triangular end part of the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 2009-05-29T01:30:42Z UMLS:C4023999 Abnormality of the end part of the toe bones Abnormality of the epiphyses of the toes human_phenotype HP:0010160 Abnormal toe epiphysis morphology HP:0010160 Abnormality of the end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:31:17Z UMLS:C4023998 Abnormality of the long bones of the toes Abnormality of the phalanges of the toes human_phenotype HP:0010161 Abnormal toe phalanx morphology HP:0010161 Abnormality of the long bones of the toes https://orcid.org/0000-0001-5208-3432 Absence of the epiphyses of the phalanges of the toes. 2009-05-29T01:34:06Z UMLS:C4023997 Absent end part of the toe bones human_phenotype HP:0010162 Absent epiphyses of the toes HP:0010162 Absence of the epiphyses of the phalanges of the toes. https://orcid.org/0009-0006-4530-3154 Absent end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023996 Bracket shaped end part of the toe bones human_phenotype HP:0010163 Bracket epiphyses of the toes HP:0010163 Bracket shaped end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023995 Cone-shaped end part of the toe bones human_phenotype HP:0010164 Cone-shaped epiphyses of the toes HP:0010164 Cone-shaped end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023994 Enlarged end part of the toe bones human_phenotype HP:0010165 Enlarged epiphyses of the toes HP:0010165 Enlarged end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023993 Fragmentation of the end part of the toe bones human_phenotype HP:0010166 Fragmentation of the epiphyses of the toes HP:0010166 Fragmentation of the end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023992 Irregular end part of the toe bones human_phenotype HP:0010167 Irregular epiphyses of the toes HP:0010167 Irregular end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023991 Increased bone density of end part of the toes human_phenotype HP:0010168 Ivory epiphyses of the toes HP:0010168 Increased bone density of end part of the toes https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023990 human_phenotype HP:0010169 Pseudoepiphyses of the toes HP:0010169 2009-05-29T01:34:06Z UMLS:C4023989 Small end part of the toe bones human_phenotype HP:0010170 Small epiphyses of the toes HP:0010170 Small end part of the toe bones https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. 2009-05-29T01:34:06Z UMLS:C4021332 Speckled calcifications in long toe bones Stippling of the epiphyses of the toes human_phenotype HP:0010171 Epiphyseal stippling of toe phalanges HP:0010171 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in long toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:34:06Z UMLS:C4023988 Triangular end part of the toe bones human_phenotype HP:0010172 Triangular epiphyses of the toes HP:0010172 Triangular end part of the toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:39:26Z UMLS:C4023987 Absent/small toe bones Absent/underdeveloped toe bones human_phenotype HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes HP:0010173 Absent/small toe bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped toe bones https://orcid.org/0000-0001-5208-3432 Increased width of phalanx of one or more toes. 2009-05-29T01:39:26Z UMLS:C4023986 Wide toe bones human_phenotype HP:0010174 Broad phalanx of the toes HP:0010174 Increased width of phalanx of one or more toes. https://orcid.org/0000-0002-0736-9199 Wide toe bones https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T01:39:26Z UMLS:C4021331 Bullet-shaped phalanges of the toes Bullet-shaped toe bone human_phenotype HP:0010175 Bullet-shaped toe phalanx HP:0010175 An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped phalanges of the toes Bullet-shaped toe bone https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more toe phalanges. 2009-05-29T01:39:26Z UMLS:C4021330 Curved phalanges of the toes Curved toe bone human_phenotype HP:0010176 Curved toe phalanx HP:0010176 A deviation from the normal straight form of one or more toe phalanges. https://orcid.org/0000-0002-0736-9199 Curved toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:39:26Z UMLS:C4023985 human_phenotype HP:0010177 Osteolytic defects of the phalanges of the toes HP:0010177 Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. 2009-05-29T01:39:26Z UMLS:C4021329 Patchy sclerosis of the phalanges of the toes Uneven increase in bone density in toe bone human_phenotype HP:0010178 Patchy sclerosis of toe phalanx HP:0010178 Uneven (irregular) increase in bone density of one or more of the phalanges of the foot. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:39:26Z UMLS:C4023984 Fused toe bones human_phenotype HP:0010179 Toe symphalangism HP:0010179 Fused toe bones https://orcid.org/0000-0001-5208-3432 2009-05-29T01:39:26Z UMLS:C4023983 Triangular shaped toe bones human_phenotype HP:0010180 Triangular shaped phalanges of the toes HP:0010180 Triangular shaped toe bones https://orcid.org/0000-0001-5208-3432 Partial/complete duplication of one or more phalanx of toe. 2009-05-29T01:39:26Z UMLS:C4021328 Duplicated toe bone Partial/complete duplication of the phalanges of the toes human_phenotype HP:0010181 Duplication of phalanx of toe HP:0010181 Partial/complete duplication of one or more phalanx of toe. https://orcid.org/0000-0002-0736-9199 Duplicated toe bone https://orcid.org/0000-0001-5208-3432 2009-05-29T01:51:38Z UMLS:C4023982 Abnormality of the outermost bone of the toes human_phenotype HP:0010182 Abnormal distal toe phalanx morphology HP:0010182 Abnormality of the outermost bone of the toes https://orcid.org/0000-0001-5208-3432 2009-05-29T01:51:38Z UMLS:C4023981 Abnormal middle bones of toe human_phenotype HP:0010183 Abnormality of the middle phalanges of the toes HP:0010183 Abnormal middle bones of toe https://orcid.org/0000-0001-5208-3432 A morphological anomaly of one or more proximal phalanges of one or more toes. 2009-05-29T01:51:38Z UMLS:C4021327 Abnormal innermost toe bone Abnormality of the proximal phalanges of the toes human_phenotype HP:0010184 Abnormality of toe proximal phalanx HP:0010184 A morphological anomaly of one or more proximal phalanges of one or more toes. https://orcid.org/0000-0002-0736-9199 Abnormal innermost toe bone https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the distal phalanges of the toes. 2009-05-29T01:52:41Z HP:0005735 HP:0005818 UMLS:C4020773 UMLS:C4021326 Absent/hypoplastic terminal phalanges of toes Absent/small outermost bones of toe Absent/underdeveloped outermost bones of toe human_phenotype Hypoplasia/agenesis of distal phalanges of toes HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes HP:0010185 Absence or underdevelopment of the distal phalanges of the toes. https://orcid.org/0000-0002-0736-9199 Absent/small outermost bones of toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost bones of toe https://orcid.org/0000-0001-5208-3432 Increased width of the distal phalanx of toe of one or more toes. 2009-05-29T01:52:41Z UMLS:C4023980 Broad outermost bone of the toe Wide outermost bone of the toe human_phenotype HP:0010186 Broad distal phalanx of the toes HP:0010186 Increased width of the distal phalanx of toe of one or more toes. https://orcid.org/0000-0002-0736-9199 Broad outermost bone of the toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T01:52:41Z UMLS:C4021325 Bullet-shaped distal phalanges of the toes Bullet-shaped outermost bone of the toe human_phenotype HP:0010187 Bullet-shaped distal toe phalanx HP:0010187 An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more distal toe phalanges. 2009-05-29T01:52:41Z UMLS:C4021324 Curved distal phalanges of the toes Curved outermost bone of the toe human_phenotype HP:0010188 Curved distal toe phalanx HP:0010188 A deviation from the normal straight form of one or more distal toe phalanges. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:52:41Z UMLS:C4023979 human_phenotype HP:0010189 Osteolytic defects of the distal phalanges of the toes HP:0010189 Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-05-29T01:52:41Z UMLS:C4021323 Patchy sclerosis of the distal phalanges of the toes Uneven increase in bone density in outermost toe bone human_phenotype HP:0010190 Patchy sclerosis of distal toe phalanx HP:0010190 Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in outermost toe bone https://orcid.org/0000-0001-5208-3432 HP:0001859 2009-05-29T01:52:41Z human_phenotype HP:0010191 obsolete Symphalangism affecting the distal phalanges of the toes true HP:0010191 2009-05-29T01:52:41Z UMLS:C4023977 Triangular shaped outermost bone of the toes human_phenotype HP:0010192 Triangular shaped distal phalanges of the toes HP:0010192 Triangular shaped outermost bone of the toes https://orcid.org/0000-0001-5208-3432 A partial or complete duplication of one or more distal phalanx of toe. 2009-05-29T01:52:41Z UMLS:C4021322 Duplication of outermost bone of toe Partial/complete duplication of the distal phalanges of the toes human_phenotype HP:0010193 Duplication of distal phalanx of toe HP:0010193 A partial or complete duplication of one or more distal phalanx of toe. https://orcid.org/0009-0006-4530-3154 Duplication of outermost bone of toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:53:35Z UMLS:C4023976 Absent/small middle bones of toe Absent/underdeveloped middle bones of toe human_phenotype HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes HP:0010194 Absent/small middle bones of toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bones of toe https://orcid.org/0000-0001-5208-3432 2009-05-29T01:53:35Z UMLS:C4023975 Broad middle bones of the toes human_phenotype HP:0010195 Broad middle phalanges of the toes HP:0010195 Broad middle bones of the toes https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T01:53:35Z UMLS:C4021321 Bullet-shaped middle bones of the toes Bullet-shaped middle phalanges of the toes human_phenotype HP:0010196 Bullet-shaped middle phalanx of toe HP:0010196 An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bones of the toes https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more middle toe phalanges. 2009-05-29T01:53:35Z UMLS:C4021320 Curved middle bones of the toes Curved middle phalanges of the toes human_phenotype HP:0010197 Curved middle phalanx of toe HP:0010197 A deviation from the normal straight form of one or more middle toe phalanges. https://orcid.org/0000-0002-0736-9199 Curved middle bones of the toes https://orcid.org/0000-0001-5208-3432 2009-05-29T01:53:35Z UMLS:C4023974 human_phenotype HP:0010198 Osteolytic defects of the middle phalanges of the toes HP:0010198 Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-05-29T01:53:35Z UMLS:C4021319 Patchy sclerosis of the middle phalanges of the toes Uneven increase in bone density in middle toe bone human_phenotype HP:0010199 Patchy sclerosis of middle phalanx of toe HP:0010199 Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in middle toe bone https://orcid.org/0000-0001-5208-3432 Bony fusion at the proximal interphalangeal joint of a toe other than the hallux (end-to-end fusion of the proximal and medial phalanx of a toe). 2009-05-29T01:53:35Z HP:0010209 HP:0100237 UMLS:C4023973 Fused middle bones of toes human_phenotype HP:0010200 The hallux (big toe) has only two phalanges. Proximal toe symphalangism HP:0010200 Fused middle bones of toes https://orcid.org/0000-0001-5208-3432 2009-05-29T01:53:35Z UMLS:C4023972 Triangular shaped middle bones of toes human_phenotype HP:0010201 Triangular shaped middle phalanges of the toes HP:0010201 Triangular shaped middle bones of toes https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of a middle phalanx of toe. 2009-05-29T01:53:35Z UMLS:C4021318 Partial/complete duplication of the middle bones of the toes Partial/complete duplication of the middle phalanges of the toes human_phenotype HP:0010202 Duplication of middle phalanx of toe HP:0010202 Partial or complete duplication of a middle phalanx of toe. https://orcid.org/0000-0002-0736-9199 Partial/complete duplication of the middle bones of the toes https://orcid.org/0000-0001-5208-3432 Absence (agenesis) or underdevelopment of the proximal phalanx of the toe. 2009-05-29T01:54:18Z UMLS:C4021317 Absent/small innermost toe bones Absent/underdeveloped innermost toe bones Aplasia/Hypoplasia of the proximal phalanges of the toes human_phenotype HP:0010203 Aplasia/hypoplasia of proximal toe phalanx HP:0010203 Absence (agenesis) or underdevelopment of the proximal phalanx of the toe. https://orcid.org/0000-0002-0736-9199 Absent/small innermost toe bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost toe bones https://orcid.org/0000-0001-5208-3432 An increase in width of one ore more proximal toe phalanges. 2009-05-29T01:54:18Z UMLS:C4023971 Broad innermost toe bone human_phenotype HP:0010204 Broad proximal phalanx of toe HP:0010204 An increase in width of one ore more proximal toe phalanges. https://orcid.org/0000-0002-0736-9199 Broad innermost toe bone https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-05-29T01:54:18Z UMLS:C4021316 Bullet-shaped innermost toe bone Bullet-shaped proximal phalanges of the toes Bullet-shaped proximal phalanges of toe human_phenotype HP:0010205 Bullet-shaped proximal toe phalanx HP:0010205 An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost toe bone https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight shape of a proximal phalanx of one or more toes. 2009-05-29T01:54:18Z UMLS:C4021315 Curved innermost toe bones Curved proximal phalanges of the toes human_phenotype HP:0010206 Curved proximal toe phalanx HP:0010206 A deviation from the normal straight shape of a proximal phalanx of one or more toes. https://orcid.org/0000-0002-0736-9199 Curved innermost toe bones https://orcid.org/0000-0001-5208-3432 Dissolution or degeneration of bone tissue of the proximal toe phalanx. 2009-05-29T01:54:18Z UMLS:C4021314 Osteolytic defects of the proximal phalanges of the toes human_phenotype HP:0010207 Osteolytic defect of the proximal toe phalanx HP:0010207 Dissolution or degeneration of bone tissue of the proximal toe phalanx. https://orcid.org/0000-0002-0736-9199 Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-05-29T01:54:18Z UMLS:C4021313 Patchy sclerosis of the proximal phalanges of the toes Uneven increase in bone density in innermost toe bone human_phenotype HP:0010208 Patchy sclerosis of proximal toe phalanx HP:0010208 Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in innermost toe bone https://orcid.org/0000-0001-5208-3432 HP:0010200 2009-05-29T01:54:18Z human_phenotype HP:0010209 obsolete Symphalangism affecting the proximal phalanges of the toes true HP:0010209 2009-05-29T01:54:18Z UMLS:C4023969 Triangular shaped innermost toe bones human_phenotype HP:0010210 Triangular shaped proximal phalanges of the toes HP:0010210 Triangular shaped innermost toe bones https://orcid.org/0000-0001-5208-3432 Partial/complete duplication of a proximal phalanx of toe. 2009-05-29T01:54:18Z UMLS:C4021312 Duplication of innermost toe bones Partial/complete duplication of the proximal phalanges of the toes human_phenotype HP:0010211 Duplication of proximal phalanx of toe HP:0010211 Partial/complete duplication of a proximal phalanx of toe. https://orcid.org/0009-0006-4530-3154 Duplication of innermost toe bones https://orcid.org/0000-0001-5208-3432 One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. 2009-06-02T01:39:18Z UMLS:C4021311 Joint contracture of the big toe Joint contracture of the hallux human_phenotype HP:0010212 Flexion contracture of the hallux HP:0010212 One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 Joint contracture of the big toe https://orcid.org/0000-0001-5208-3432 Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. 2009-06-02T01:45:34Z UMLS:C4023968 human_phenotype HP:0010213 Contracture of the tarsometatarsal joint of the hallux HP:0010213 Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints. https://orcid.org/0000-0002-0736-9199 The interphalangeal joint of the big toe cannot be straightened actively or passively. 2009-06-02T01:45:34Z UMLS:C4023967 human_phenotype HP:0010214 Contracture of the interphalangeal joint of the hallux HP:0010214 The interphalangeal joint of the big toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. 2009-06-02T01:45:34Z UMLS:C4023966 human_phenotype HP:0010215 Contractures of the metatarsophalangeal joint of the hallux HP:0010215 The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 true HP:0010216 true HP:0010217 true HP:0010218 A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. 2009-06-04T05:14:38Z UMLS:C4023965 human_phenotype HP:0010219 Structural foot deformity HP:0010219 A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. https://orcid.org/0000-0002-0736-9199 Any abnormality of the epiphysis of the second metacarpal bone. 2009-07-02T04:07:33Z UMLS:C4023964 Abnormality of the end part of the 2nd long bone of hand human_phenotype HP:0010220 Abnormality of the epiphysis of the 2nd metacarpal HP:0010220 Any abnormality of the epiphysis of the second metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the 2nd long bone of hand https://orcid.org/0000-0001-5208-3432 HP:0006179 human_phenotype HP:0010221 obsolete Pseudoepiphysis of the 2nd metacarpal true HP:0010221 Any abnormality of the epiphysis of the third metacarpal bone. 2009-07-02T04:10:28Z UMLS:C4023962 Abnormality of the end part of the 3rd long bone of hand Abnormality of the epiphysis of the 3rd metacarpal human_phenotype HP:0010222 Abnormal 3rd metacarpal epiphysis morphology HP:0010222 Any abnormality of the epiphysis of the third metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the 3rd long bone of hand https://orcid.org/0000-0001-5208-3432 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:10:52Z UMLS:C4023961 human_phenotype HP:0010223 Pseudoepiphysis of the 3rd metacarpal HP:0010223 The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. https://orcid.org/0000-0002-0736-9199 Any abnormality of the epiphysis of the 4th metacarpal bone. 2009-07-02T04:11:46Z UMLS:C4023960 Abnormality of the end part of the 4th long bone of hand Abnormality of the epiphysis of the 4th metacarpal human_phenotype HP:0010224 Abnormal 4th metacarpal epiphysis morphology HP:0010224 Any abnormality of the epiphysis of the 4th metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the 4th long bone of hand https://orcid.org/0000-0001-5208-3432 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:12:04Z UMLS:C4023959 human_phenotype HP:0010225 Pseudoepiphysis of the 4th metacarpal HP:0010225 The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. https://orcid.org/0000-0002-0736-9199 Any abnormality of the epiphysis of the fifth metacarpal bone. 2009-07-02T04:13:00Z UMLS:C4023958 Abnormality of the end part of the long bone of little finger Abnormality of the end part of the long bone of pinkie finger Abnormality of the end part of the long bone of pinky finger Abnormality of the epiphysis of the 5th metacarpal human_phenotype HP:0010226 Abnormal 5th metacarpal epiphysis morphology HP:0010226 Any abnormality of the epiphysis of the fifth metacarpal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the long bone of little finger https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the long bone of pinkie finger https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the long bone of pinky finger https://orcid.org/0000-0001-5208-3432 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. 2009-07-02T04:13:20Z UMLS:C4023957 human_phenotype HP:0010227 Pseudoepiphysis of the 5th metacarpal HP:0010227 The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present. https://orcid.org/0000-0002-0736-9199 Absence of one or more epiphyses of the phalanges of the fingers. 2009-07-06T03:31:52Z HP:0009359 UMLS:C4021310 Absent end part of fingers Absent epiphyses of the fingers human_phenotype HP:0010228 Absent epiphyses of the phalanges of the hand HP:0010228 Absence of one or more epiphyses of the phalanges of the fingers. https://orcid.org/0000-0002-5316-1399 Absent end part of fingers https://orcid.org/0000-0001-5208-3432 Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-07-06T03:31:52Z HP:0009360 UMLS:C4021309 Bracket epiphyses of the fingers Bracket shaped end part of finger bones human_phenotype HP:0010229 Bracket epiphyses of the phalanges of the hand HP:0010229 Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 https://orcid.org/0000-0002-0736-9199 Bracket shaped end part of finger bones https://orcid.org/0000-0001-5208-3432 A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. 2009-07-06T03:31:52Z HP:0001175 HP:0001207 HP:0001242 HP:0003766 HP:0005803 HP:0009361 UMLS:C1859480 Cone-shaped end part of finger bones Cone-shaped epiphyses of hand Cone-shaped epiphyses of the fingers Coned epiphyses of hands Conical phalangeal epiphyses human_phenotype HP:0010230 Cone-shaped epiphyses of the phalanges of the hand HP:0010230 A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of finger bones https://orcid.org/0000-0001-5208-3432 Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. 2009-07-06T03:31:52Z HP:0006023 HP:0009362 UMLS:C1865036 Enlarged end part of finger bones Enlarged epiphyses of the fingers Enlarged phalangeal epiphyses human_phenotype HP:0010231 Enlarged epiphyses of the phalanges of the hand HP:0010231 Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Enlarged end part of finger bones https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the phalanges of the fingers. 2009-07-06T03:31:52Z HP:0009363 UMLS:C4021308 Fragmentation of end part of finger bones Fragmentation of the epiphyses of the fingers Fragmentation of the epiphyses of the phalanges of the hand human_phenotype HP:0010232 Fragmented finger phalanx epiphysis HP:0010232 Fragmented appearance of the epiphyses of the phalanges of the fingers. https://orcid.org/0000-0002-0736-9199 Fragmentation of end part of finger bones https://orcid.org/0000-0001-5208-3432 Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. 2009-07-06T03:31:52Z HP:0009364 UMLS:C4021307 Irregular end part of finger bones Irregular epiphyses of the fingers human_phenotype HP:0010233 Irregular epiphyses of the phalanges of the hand HP:0010233 Irregular radiographic opacity of the epiphyses of the phalanges of the fingers. https://orcid.org/0000-0002-0736-9199 Irregular end part of finger bones https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-07-06T03:31:52Z HP:0001210 HP:0009365 UMLS:C1857651 Increased bone density of end part of the hand bones Ivory epiphyses of the fingers Sclerotic ivory phalangeal epiphyses human_phenotype HP:0010234 Ivory epiphyses of the phalanges of the hand HP:0010234 Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the hand bones https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-07-06T03:31:52Z HP:0009366 UMLS:C4021306 Pseudoepiphysis of the fingers human_phenotype HP:0010235 Pseudoepiphyses of the phalanges of the hand HP:0010235 A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. 2009-07-06T03:31:52Z HP:0009367 UMLS:C4021305 Small end part of finger bones Small epiphyses of the fingers human_phenotype HP:0010236 Small epiphyses of the phalanges of the hand HP:0010236 Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 Small end part of finger bones https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. 2009-07-06T03:31:52Z HP:0009368 UMLS:C4021304 Speckled calcifications in end part of finger bones Stippling of the epiphyses of the fingers Stippling of the epiphyses of the phalanges of the hand human_phenotype HP:0010237 Epiphyseal stippling of finger phalanges HP:0010237 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of finger bones https://orcid.org/0000-0001-5208-3432 A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. 2009-07-06T03:31:52Z HP:0009369 UMLS:C4021303 Delta-shaped epiphyses of the fingers Triangular end part of finger bones Triangular epiphyses of the fingers human_phenotype HP:0010238 Triangular epiphyses of the phalanges of the hand HP:0010238 A triangular appearance of the epiphyses of the phalanges of the fingers of the hand. https://orcid.org/0000-0002-0736-9199 Triangular end part of finger bones https://orcid.org/0000-0001-5208-3432 Absence of one or more middle phalanx of a finger. 2009-07-06T03:59:39Z HP:0005778 UMLS:C1862096 Absent middle bones of hand Absent middle phalanges Missing middle phalanges human_phenotype HP:0010239 Aplasia of the middle phalanx of the hand HP:0010239 Absence of one or more middle phalanx of a finger. https://orcid.org/0000-0002-0736-9199 Absent middle bones of hand https://orcid.org/0000-0001-5208-3432 true HP:0010240 Congenital hypoplasia of one or more proximal phalanx of finger. 2009-07-06T04:00:44Z HP:0005670 HP:0006138 UMLS:C1860606 Hypoplasia of the proximal phalanges of the hand Short innermost finger bones Short proximal phalanges Short proximal phalanx of finger Shortening in proximal phalanges human_phenotype HP:0010241 Short proximal phalanx of finger HP:0010241 Congenital hypoplasia of one or more proximal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Short innermost finger bones https://orcid.org/0000-0001-5208-3432 Short proximal phalanx of finger 2009-07-06T04:01:02Z HP:0006102 UMLS:C4021302 Absent innermost bones Absent proximal phalanges human_phenotype HP:0010242 Aplasia of the proximal phalanges of the hand HP:0010242 Absent innermost bones https://orcid.org/0000-0001-5208-3432 Any anomaly of distal epiphysis of phalanx of finger. 2009-07-06T04:21:32Z UMLS:C4023956 Abnormality of the end part of the outermost bone of finger human_phenotype HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger HP:0010243 Any anomaly of distal epiphysis of phalanx of finger. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the outermost bone of finger https://orcid.org/0000-0001-5208-3432 2009-07-06T04:21:32Z UMLS:C4023955 Abnormality of the end part of the middle hand bones human_phenotype HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand HP:0010244 Abnormality of the end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:21:32Z UMLS:C4023954 Abnormality of the end part of the innermost hand bones human_phenotype HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand HP:0010245 Abnormality of the end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023953 Absent end part of the outermost hand bones human_phenotype HP:0010246 Absent epiphyses of the distal phalanges of the hand HP:0010246 Absent end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-07-06T04:23:06Z UMLS:C4023952 Bracket shaped end part of the outermost hand bones human_phenotype HP:0010247 Bracket epiphyses of the distal phalanges of the hand HP:0010247 An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023951 Cone-shaped end part of the outermost hand bones human_phenotype HP:0010248 Cone-shaped epiphyses of the distal phalanges of the hand HP:0010248 Cone-shaped end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023950 Enlarged end part of the outermost hand bones human_phenotype HP:0010249 Enlarged epiphyses of the distal phalanges of the hand HP:0010249 Enlarged end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023949 Fragmentation of the end part of the outermost hand bones human_phenotype HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the hand HP:0010250 Fragmentation of the end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023948 Irregular end part of the outermost hand bones human_phenotype HP:0010251 Irregular epiphyses of the distal phalanges of the hand HP:0010251 Irregular end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2009-07-06T04:23:06Z HP:0006105 UMLS:C4021301 Eburnated epiphyses of distal phalanges Increased bone density of end part of the outermost hand bones human_phenotype HP:0010252 Ivory epiphyses of the distal phalanges of the hand HP:0010252 Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-07-06T04:23:06Z UMLS:C4023947 human_phenotype HP:0010253 Pseudoepiphyses of the distal phalanges of the hand HP:0010253 2009-07-06T04:23:06Z UMLS:C4023946 Small end part of the outermost hand bones human_phenotype HP:0010254 Small epiphyses of the distal phalanges of the hand HP:0010254 Small end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023945 Speckled calcifications in the end part of the outermost hand bones human_phenotype HP:0010255 Stippling of the epiphyses of the distal phalanges of the hand HP:0010255 Speckled calcifications in the end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:23:06Z UMLS:C4023944 Triangular end part of the outermost hand bones human_phenotype HP:0010256 Triangular epiphyses of the distal phalanges of the hand HP:0010256 Triangular end part of the outermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z UMLS:C4023943 Absent end part of the middle hand bones human_phenotype HP:0010257 Absent epiphyses of the middle phalanges of the hand HP:0010257 Absent end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-07-06T04:24:15Z UMLS:C4023942 Bracket shaped end part of the middle hand bones human_phenotype HP:0010258 Bracket epiphyses of the middle phalanges of the hand HP:0010258 An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 Bracket shaped end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z HP:0006033 HP:0006058 UMLS:C1860828 Cone-shaped end part of the middle hand bones Cone-shaped epiphyses of middle phalanges human_phenotype HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand HP:0010259 Cone-shaped end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z UMLS:C4023941 Enlarged end part of the middle hand bones human_phenotype HP:0010260 Enlarged epiphyses of the middle phalanges of the hand HP:0010260 Enlarged end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses of the middle phalanges of the hand. 2009-07-06T04:24:15Z UMLS:C4023940 Fragmentation of the end part of the middle hand bones human_phenotype HP:0010261 Fragmentation of the epiphyses of the middle phalanges of the hand HP:0010261 Fragmented appearance of the epiphyses of the middle phalanges of the hand. https://orcid.org/0000-0002-0736-9199 Fragmentation of the end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z UMLS:C4023939 Irregular end part of middle hand bones human_phenotype HP:0010262 Irregular epiphyses of the middle phalanges of the hand HP:0010262 Irregular end part of middle hand bones https://orcid.org/0000-0001-5208-3432 Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2009-07-06T04:24:15Z UMLS:C4023938 Increased bone density of end part of the middle hand bones human_phenotype HP:0010263 Ivory epiphyses of the middle phalanges of the hand HP:0010263 Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-07-06T04:24:15Z UMLS:C4023937 human_phenotype HP:0010264 Pseudoepiphyses of the middle phalanges of the hand HP:0010264 2009-07-06T04:24:15Z UMLS:C4023936 Small end part of the middle hand bones human_phenotype HP:0010265 Small epiphyses of the middle phalanges of the hand HP:0010265 Small end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z UMLS:C4023935 Speckled calcifications in the end part of the middle hand bones human_phenotype HP:0010266 Stippling of the epiphyses of the middle phalanges of the hand HP:0010266 Speckled calcifications in the end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:24:15Z UMLS:C4023934 Triangular end part of the middle hand bones human_phenotype HP:0010267 Triangular epiphyses of the middle phalanges of the hand HP:0010267 Triangular end part of the middle hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023933 Absent end part of the innermost hand bones human_phenotype HP:0010268 Absent epiphyses of the proximal phalanges of the hand HP:0010268 Absent end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. 2009-07-06T04:25:12Z UMLS:C4023932 Bracket shaped end part of the innermost hand bones human_phenotype HP:0010269 Bracket epiphyses of the proximal phalanges of the hand HP:0010269 An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side. PMID:24432108 https://orcid.org/0000-0001-7941-2961 Bracket shaped end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023931 Cone-shaped end part of the innermost hand bones human_phenotype HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand HP:0010270 Cone-shaped end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023930 Enlarged end part of the innermost hand bones human_phenotype HP:0010271 Enlarged epiphyses of the proximal phalanges of the hand HP:0010271 Enlarged end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023929 Fragmentation of the end part of the innermost hand bones human_phenotype HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the hand HP:0010272 Fragmentation of the end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023928 Irregular end part of the innermost hand bones human_phenotype HP:0010273 Irregular epiphyses of the proximal phalanges of the hand HP:0010273 Irregular end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2009-07-06T04:25:12Z UMLS:C4023927 Increased bone density of end part of the innermost hand bones human_phenotype HP:0010274 Ivory epiphyses of the proximal phalanges of the hand HP:0010274 Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. 2009-07-06T04:25:12Z UMLS:C4023926 human_phenotype HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand HP:0010275 A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. https://orcid.org/0000-0002-0736-9199 2009-07-06T04:25:12Z UMLS:C4023925 Small end part of the innermost hand bones human_phenotype HP:0010276 Small epiphyses of the proximal phalanges of the hand HP:0010276 Small end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023924 Speckled calcifications in the end part of the innermost hand bones human_phenotype HP:0010277 Stippling of the epiphyses of the proximal phalanges of the hand HP:0010277 Speckled calcifications in the end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 2009-07-06T04:25:12Z UMLS:C4023923 Triangular end part of the innermost hand bones human_phenotype HP:0010278 Triangular epiphyses of the proximal phalanges of the hand HP:0010278 Triangular end part of the innermost hand bones https://orcid.org/0000-0001-5208-3432 true HP:0010279 Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. 2009-07-12T09:48:56Z SNOMEDCT_US:20607006 SNOMEDCT_US:61170000 UMLS:C0038362 UMLS:C0149704 Inflammation of the mouth Stomatitis Gingivostomatitis human_phenotype HP:0010280 Principal causative agents include herpes simplex virus (HSV), which causes recurrent herpetic stomatitis particularly in T-cell deficiencies, and Coxsackievirus (hand-foot-and-mouth disease), which may be unusually severe or prolonged in antibody deficiencies. Stomatitis HP:0010280 Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. PMID:39274292 Inflammation of the mouth https://orcid.org/0000-0001-5889-4463 Gingivostomatitis https://orcid.org/0000-0001-5889-4463 A gap in the lower lip. 2009-07-12T09:50:34Z UMLS:C1856026 Cleft lower lip Cleft of the lower lip Lower labial cleft human_phenotype HP:0010281 Cleft lower lip HP:0010281 A gap in the lower lip. https://orcid.org/0000-0002-0736-9199 Cleft lower lip Cleft of the lower lip Lower labial cleft https://orcid.org/0000-0001-5889-4463 Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). 2009-07-12T10:17:22Z UMLS:C2053440 Decreased height of lower lip vermilion Decreased volume of lower lip Decreased volume of lower lip vermilion Thin lower lip Thin vermilion border of lower lip Thin red part of the lower lip human_phenotype HP:0010282 Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. Thin lower lip vermilion HP:0010282 Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). PMID:19125428 Decreased height of lower lip vermilion https://orcid.org/0000-0001-5889-4463 Decreased volume of lower lip https://orcid.org/0000-0001-5889-4463 Decreased volume of lower lip vermilion https://orcid.org/0000-0001-5889-4463 Thin lower lip Thin vermilion border of lower lip https://orcid.org/0000-0001-5889-4463 Thin red part of the lower lip https://orcid.org/0000-0001-5889-4463 true HP:0010283 Increased pigmentation, either focal or generalized, of the mucosa of the mouth. 2009-07-12T10:33:11Z SNOMEDCT_US:235038002 UMLS:C0399483 UMLS:C0877541 UMLS:C4280387 UMLS:C4280388 UMLS:C4280389 Hyperpigmentation of oral mucosa Oral mucosa melanin pigmentation Oral racial pigmentation Dark color of gums Dark colour of gums Gingival hyperpigmentation Gingival melanin pigmentation Pigmented gums human_phenotype HP:0010284 Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. Intra-oral hyperpigmentation HP:0010284 Increased pigmentation, either focal or generalized, of the mucosa of the mouth. PMID:19125428 Hyperpigmentation of oral mucosa https://orcid.org/0000-0001-5889-4463 Oral mucosa melanin pigmentation https://orcid.org/0000-0001-5889-4463 Oral racial pigmentation https://orcid.org/0000-0001-5889-4463 Dark color of gums https://orcid.org/0000-0001-5889-4463 Dark colour of gums Gingival hyperpigmentation https://orcid.org/0000-0001-5889-4463 Gingival melanin pigmentation https://orcid.org/0000-0001-5889-4463 Pigmented gums https://orcid.org/0000-0001-5889-4463 Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. 2009-07-12T10:37:03Z Oral fibrous bands UMLS:C4023921 Synechiae of the mouth human_phenotype HP:0010285 These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. Oral synechia HP:0010285 Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. PMID:19125428 Any abnormality of the salivary glands, the exocrine glands that produce saliva. 2009-07-12T10:38:51Z SNOMEDCT_US:10890000 UMLS:C0036093 UMLS:C0149772 Abnormality of the salivary glands human_phenotype Salivary gland disease HP:0010286 Abnormal salivary gland morphology HP:0010286 Any abnormality of the salivary glands, the exocrine glands that produce saliva. https://orcid.org/0000-0002-0736-9199 Abnormality of the salivary glands Salivary gland disease Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. 2009-07-12T10:41:17Z UMLS:C4023920 Abnormality of the submaxillary glands human_phenotype HP:0010287 Abnormality of the submandibular glands HP:0010287 Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles. https://orcid.org/0000-0002-0736-9199 Abnormality of the submaxillary glands https://orcid.org/0000-0001-5889-4463 Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. 2009-07-12T10:42:35Z UMLS:C4023919 human_phenotype HP:0010288 Abnormality of the sublingual glands HP:0010288 Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands. https://orcid.org/0000-0002-0736-9199 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. 2009-07-12T10:47:29Z HP:0410003 SNOMEDCT_US:445306000 UMLS:C1398533 UMLS:C2919907 UMLS:C4280386 Alveolar cleft Alveolar ridge cleft Cleft anterior maxilla Cleft maxillary alveolus Cleft of alveolar ridge of maxilla Cleft of gum ridge Notch of alveolar ridge Notch of gum ridge Cleft of alveolar process Notch of alveolar process human_phenotype HP:0010289 The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine. Cleft maxillary alveolar ridge HP:0010289 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. HPO_CONTRIBUTOR:mengelstad https://orcid.org/0000-0002-0736-9199 Cleft anterior maxilla https://orcid.org/0000-0001-5889-4463 Cleft of gum ridge https://orcid.org/0000-0001-5889-4463 Notch of alveolar ridge https://orcid.org/0000-0001-5889-4463 Notch of gum ridge https://orcid.org/0000-0001-5889-4463 Cleft of alveolar process https://orcid.org/0000-0001-5889-4463 Notch of alveolar process https://orcid.org/0000-0001-5889-4463 Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). 2009-07-12T11:28:44Z UMLS:C1398301 UMLS:C4020772 UMLS:C4023918 Decreased length of hard palate human_phenotype Hypoplastic palate Short palate HP:0010290 Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. Short hard palate HP:0010290 Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). PMID:19125428 Decreased length of hard palate https://orcid.org/0000-0001-5889-4463 Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. 2009-07-12T11:33:40Z UMLS:C4021300 Large lateral palatal folds Large lateral palatal ridges Prominent lateral palatal folds Prominent lateral palatal ridges Prominent palatine folds human_phenotype HP:0010291 Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. Prominent palatine ridges HP:0010291 Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. PMID:19125428 Large lateral palatal folds https://orcid.org/0000-0001-5889-4463 Large lateral palatal ridges https://orcid.org/0000-0001-5889-4463 Prominent lateral palatal folds https://orcid.org/0000-0001-5889-4463 Lack of the uvula. 2009-07-12T11:36:21Z SNOMEDCT_US:25148007 UMLS:C0266121 Absent palatine uvula Congenital absence of uvula Missing uvula Uvula aplasia human_phenotype Agenesis of uvula HP:0010292 Sometimes accompanies a Submucous cleft palate, but this should be coded separately. Absent uvula HP:0010292 Lack of the uvula. PMID:19125428 Absent palatine uvula https://orcid.org/0000-0001-5889-4463 Missing uvula https://orcid.org/0000-0001-5889-4463 Agenesis of uvula https://orcid.org/0000-0001-5889-4463 Underdevelopment or absence of the uvula. 2009-07-12T11:36:52Z UMLS:C4023917 Aplasia/hypoplasia of palatine uvula human_phenotype HP:0010293 Aplasia/Hypoplasia of the uvula HP:0010293 Underdevelopment or absence of the uvula. https://orcid.org/0000-0002-0736-9199 Aplasia/hypoplasia of palatine uvula https://orcid.org/0000-0001-5889-4463 A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. 2009-07-12T11:39:52Z Hole in roof of mouth Palatal hole Palatal perforation UMLS:C2032780 UMLS:C4280385 human_phenotype HP:0010294 Palate fistula HP:0010294 A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. https://orcid.org/0000-0002-0736-9199 Hole in roof of mouth https://orcid.org/0000-0001-5889-4463 Palatal hole https://orcid.org/0000-0001-5889-4463 Palatal perforation https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of the tongue. 2009-07-12T11:41:04Z UMLS:C4023916 UMLS:C4280384 Lingual aplasia/hypoplasia human_phenotype HP:0010295 Aplasia/Hypoplasia of the tongue HP:0010295 Absence or underdevelopment of the tongue. https://orcid.org/0000-0002-0736-9199 Lingual aplasia/hypoplasia https://orcid.org/0000-0001-5889-4463 Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. 2009-07-12T11:44:22Z SNOMEDCT_US:67787004 UMLS:C0152415 Tongue tied human_phenotype Tongue tie HP:0010296 The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. Ankyloglossia HP:0010296 Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. PMID:19125428 Tongue tied Tongue with a median apical indentation or fork. 2009-07-12T11:47:28Z SNOMEDCT_US:84557007 UMLS:C0266111 UMLS:C4255098 Bifurcated tongue Bilobed tongue Cleft tongue Forked tongue Split tongue human_phenotype Snake tongue HP:0010297 Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. Bifid tongue HP:0010297 Tongue with a median apical indentation or fork. PMID:19125428 Bifurcated tongue https://orcid.org/0000-0001-5889-4463 Cleft tongue https://orcid.org/0000-0001-5889-4463 Forked tongue https://orcid.org/0000-0001-5889-4463 Split tongue Snake tongue https://orcid.org/0000-0001-5889-4463 Glossy appearance of the entire tongue surface. 2009-07-12T11:58:17Z SNOMEDCT_US:9491003 UMLS:C0155964 UMLS:C4280381 UMLS:C4280382 UMLS:C4280383 Smooth lingual surface Smooth surface of tongue Smooth tongue Smooth dorsum of tongue human_phenotype Atrophy of dorsum of tongue Atrophy of lingual surface Atrophy of tongue surface HP:0010298 This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. Smooth tongue HP:0010298 Glossy appearance of the entire tongue surface. PMID:19125428 Smooth lingual surface https://orcid.org/0000-0001-5889-4463 Smooth surface of tongue https://orcid.org/0000-0001-5889-4463 Smooth tongue Smooth dorsum of tongue https://orcid.org/0000-0001-5889-4463 Atrophy of dorsum of tongue https://orcid.org/0000-0001-5889-4463 Atrophy of lingual surface https://orcid.org/0000-0001-5889-4463 Atrophy of tongue surface https://orcid.org/0000-0001-5889-4463 Any abnormality of dentin. 2009-07-12T12:11:14Z UMLS:C4021299 Abnormal dentin Abnormality of dentin Abnormality of dentine Dentin anomaly human_phenotype HP:0010299 Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. Abnormal dentin morphology HP:0010299 Any abnormality of dentin. https://orcid.org/0000-0002-0736-9199 Abnormal dentin https://orcid.org/0000-0002-5316-1399 Abnormality of dentin Abnormality of dentine https://orcid.org/0000-0001-5889-4463 A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual. 2009-07-12T12:19:22Z UMLS:C4023915 Low pitched voice Low-pitched voice human_phenotype HP:0010300 Abnormally low-pitched voice HP:0010300 A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. 2009-07-12T12:58:04Z SNOMEDCT_US:253098009 UMLS:C0027794 Incomplete closure of the vertebral arch human_phenotype HP:0010301 Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism include spina bifida occulta. Spinal dysraphism HP:0010301 A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. https://orcid.org/0000-0002-0736-9199 Incomplete closure of the vertebral arch https://orcid.org/0009-0006-4530-3154 A neoplasm affecting the spinal cord. 2009-07-12T01:05:50Z HP:0009712 NCIT:C3262 SNOMEDCT_US:126962006 UMLS:C0037930 Spinal cord tumor Spinal cord tumour Tumor of the spinal cord Tumour of the spinal cord human_phenotype Spinal tumor Spinal tumors Spinal tumour Spinal tumours HP:0010302 Spinal cord tumor HP:0010302 A neoplasm affecting the spinal cord. https://orcid.org/0000-0002-0736-9199 Spinal cord tumor Spinal cord tumour Tumor of the spinal cord Tumour of the spinal cord Spinal tumor Spinal tumors https://orcid.org/0000-0002-5316-1399 Spinal tumour Spinal tumours Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. 2009-07-12T01:10:09Z UMLS:C4023914 Abnormality of the spinal meninges human_phenotype HP:0010303 Abnormal spinal meningeal morphology HP:0010303 Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord. https://orcid.org/0000-0002-0736-9199 An outpouching of the spinal meninges. 2009-07-12T01:11:53Z UMLS:C4023913 Spinal meningeal diverticula human_phenotype HP:0010304 Spinal meningeal diverticulum HP:0010304 An outpouching of the spinal meninges. https://orcid.org/0000-0002-0736-9199 Spinal meningeal diverticula Absence (aplasia) of the sacrum. 2009-07-12T01:13:26Z Sacrococcygeal agenesis SNOMEDCT_US:205425003 UMLS:C0344490 Absent sacrum Sacral agenesis human_phenotype HP:0010305 Absence of the sacrum HP:0010305 Absence (aplasia) of the sacrum. https://orcid.org/0000-0002-0736-9199 Reduced inferior to superior extent of the thorax. 2009-07-12T02:13:42Z SNOMEDCT_US:249670005 UMLS:C0426789 Shorter than typical length between neck and abdomen human_phenotype HP:0010306 Short thorax HP:0010306 Reduced inferior to superior extent of the thorax. https://orcid.org/0000-0002-0736-9199 Shorter than typical length between neck and abdomen https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. 2009-07-12T02:16:48Z Noisy breathing SNOMEDCT_US:248573009 SNOMEDCT_US:70407001 UMLS:C0038450 UMLS:C0237304 human_phenotype HP:0010307 Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. Stridor HP:0010307 Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. PMID:26229557 https://orcid.org/0000-0002-0736-9199 Noisy breathing https://orcid.org/0000-0001-5208-3432 The congenital absence of the sternum. 2009-07-12T02:21:46Z UMLS:C4023912 Aplasia of the sternum Breast bone aplasia human_phenotype HP:0010308 Asternia HP:0010308 The congenital absence of the sternum. PMID:3424262 https://orcid.org/0000-0002-0736-9199 The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. 2009-07-12T02:23:18Z SNOMEDCT_US:54008006 UMLS:C0265696 Sternal cleft human_phenotype HP:0010309 Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. Bifid sternum HP:0010309 The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. https://orcid.org/0000-0002-0736-9199 Sternal cleft https://orcid.org/0000-0001-5208-3432 Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. 2009-07-12T02:30:05Z SNOMEDCT_US:83035003 UMLS:C0008733 human_phenotype HP:0010310 Chylothorax HP:0010310 Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the breasts. 2009-07-12T02:31:49Z UMLS:C4023911 Absent/small breasts Absent/underdeveloped breasts human_phenotype HP:0010311 Aplasia/Hypoplasia of the breasts HP:0010311 Absence or underdevelopment of the breasts. https://orcid.org/0000-0002-0736-9199 Absent/small breasts https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped breasts https://orcid.org/0000-0001-5208-3432 The presence of asymmetrical breasts. 2009-07-12T02:32:46Z UMLS:C1854013 human_phenotype HP:0010312 Asymmetry of the breasts HP:0010312 The presence of asymmetrical breasts. https://orcid.org/0000-0002-0736-9199 The presence of hypertrophy of the breast. 2009-07-12T02:34:30Z SNOMEDCT_US:372281005 SNOMEDCT_US:372283008 SNOMEDCT_US:372285001 UMLS:C0020565 UMLS:C0392533 UMLS:C2225524 Breast enlargement Breasts enlarged Gigantomastia Hypertrophy of the breasts Large breast Macromastia human_phenotype HP:0010313 Breast hypertrophy HP:0010313 The presence of hypertrophy of the breast. https://orcid.org/0000-0002-0736-9199 Breast enlargement https://orcid.org/0000-0002-5316-1399 Breasts enlarged https://orcid.org/0000-0002-5316-1399 Gigantomastia https://orcid.org/0000-0001-5208-3432 Hypertrophy of the breasts https://orcid.org/0000-0002-5316-1399 Large breast https://orcid.org/0000-0002-5316-1399 Macromastia https://orcid.org/0000-0001-5208-3432 Premature development of the breasts. 2009-07-12T02:36:24Z SNOMEDCT_US:102889008 UMLS:C0425772 Premature breast development human_phenotype HP:0010314 Premature thelarche HP:0010314 Premature development of the breasts. https://orcid.org/0000-0002-0736-9199 Premature breast development https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the diaphragm. 2009-07-12T02:41:58Z UMLS:C4023910 Absent/small diaprhagm Absent/underdeveloped diaprhagm human_phenotype HP:0010315 Aplasia/Hypoplasia of the diaphragm HP:0010315 Absence or underdevelopment of the diaphragm. https://orcid.org/0000-0002-0736-9199 Absent/small diaprhagm https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped diaprhagm https://orcid.org/0000-0001-5208-3432 Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. 2009-07-14T11:12:07Z HP:0006674 EPCC:06.01.34 ICD-10:Q22.5 SNOMEDCT_US:204357006 UMLS:C0013481 Ebstein's anomaly Ebstein's anomaly of the tricuspid valve Ebstein's malformation human_phenotype HP:0010316 Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. Ebstein anomaly of the tricuspid valve HP:0010316 Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Absence of the scapulae. 2009-07-14T11:40:24Z UMLS:C4021298 Absent scapula Absent shoulder blade human_phenotype HP:0010317 Scapular aplasia HP:0010317 Absence of the scapulae. https://orcid.org/0000-0002-0736-9199 Absent shoulder blade https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the abdominal musculature. 2009-07-14T11:51:46Z UMLS:C4023909 Absent/small abdominal wall muscles Absent/underdeveloped abdominal wall muscles human_phenotype HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature HP:0010318 Absence or underdevelopment of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 Absent/small abdominal wall muscles https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped abdominal wall muscles https://orcid.org/0000-0001-5208-3432 An anomaly of the second toe. 2009-07-16T11:37:12Z UMLS:C4023908 Abnormal 2nd toe morphology Abnormality of the 2nd toe human_phenotype HP:0010319 Abnormal second toe morphology HP:0010319 An anomaly of the second toe. https://orcid.org/0000-0002-0736-9199 An anomaly of the third toe. 2009-07-16T11:37:12Z UMLS:C4023907 Abnormal 3rd toe morphology Abnormality of the 3rd toe human_phenotype HP:0010320 Abnormal third toe morphology HP:0010320 An anomaly of the third toe. https://orcid.org/0000-0002-0736-9199 Abnormality of the 3rd toe An anomaly of the fourth toe. 2009-07-16T11:37:12Z UMLS:C4023906 Abnormal 4th toe morphology Abnormality of the 4th toe human_phenotype HP:0010321 Abnormal fourth toe morphology HP:0010321 An anomaly of the fourth toe. https://orcid.org/0000-0002-0736-9199 Abnormality of the 4th toe An anomaly of the little toe. 2009-07-16T11:37:12Z UMLS:C4023905 Abnormal 5th toe morphology Abnormality of the 5th toe Abnormality of the little toe Abnormality of the pinkie toe Abnormality of the pinky toe human_phenotype HP:0010322 Abnormal fifth toe morphology HP:0010322 An anomaly of the little toe. https://orcid.org/0000-0002-0736-9199 Abnormality of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:18Z UMLS:C4023904 Abnormality of the end part of the 2nd toe bone human_phenotype HP:0010323 Abnormality of the epiphyses of the 2nd toe HP:0010323 Abnormality of the end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 An anomaly of a phalanx of second toe. 2009-07-16T11:40:18Z UMLS:C4023903 Abnormal morphology of phalanx of the 2nd toe Abnormality of the 2nd toe bone human_phenotype HP:0010324 Abnormal 2nd toe phalanx morphology HP:0010324 An anomaly of a phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Abnormality of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:18Z UMLS:C4023902 Absent/small 2nd toe Absent/underdeveloped 2nd toe human_phenotype HP:0010325 Aplasia/Hypoplasia of the 2nd toe HP:0010325 Absent/small 2nd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:18Z UMLS:C4021297 Displacement of the 2nd toe human_phenotype HP:0010326 Deviation of the 2nd toe HP:0010326 Displacement of the 2nd toe One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. 2009-07-16T11:40:18Z UMLS:C4021296 Joint contractures of the 2nd toe human_phenotype HP:0010327 Flexion contracture of the 2nd toe HP:0010327 One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 2009-07-16T11:40:18Z UMLS:C4023901 human_phenotype HP:0010328 Polydactyly affecting the 2nd toe HP:0010328 2009-07-16T11:40:52Z UMLS:C4023900 Abnormality of the end part of the 3rd toe bone human_phenotype HP:0010329 Abnormality of the epiphyses of the 3rd toe HP:0010329 Abnormality of the end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:52Z UMLS:C4023899 Abnormality of the bones of the 3rd toe human_phenotype HP:0010330 Abnormality of the phalanges of the 3rd toe HP:0010330 Abnormality of the bones of the 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:52Z HP:0008100 UMLS:C1862698 Absent/hypoplastic third toe Absent/small 3rd toe Absent/underdeveloped 3rd toe human_phenotype HP:0010331 Aplasia/Hypoplasia of the 3rd toe HP:0010331 Absent/small 3rd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:40:52Z UMLS:C4021295 Displacement of the 3rd toe human_phenotype HP:0010332 Deviation of the 3rd toe HP:0010332 Displacement of the 3rd toe One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. 2009-07-16T11:40:52Z UMLS:C4021294 Joint contractures of the 3rd toe human_phenotype HP:0010333 Flexion contracture of 3rd toe HP:0010333 One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 2009-07-16T11:40:52Z UMLS:C4023898 human_phenotype HP:0010334 Polydactyly affecting the 3rd toe HP:0010334 2009-07-16T11:41:21Z UMLS:C4023897 Abnormality of the end part of the 4th toe bone human_phenotype HP:0010335 Abnormality of the epiphyses of the 4th toe HP:0010335 Abnormality of the end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:41:21Z UMLS:C4023896 human_phenotype HP:0010336 Abnormality of the phalanges of the 4th toe HP:0010336 2009-07-16T11:41:21Z UMLS:C4023895 Absent/small 4th toe Absent/underdeveloped 4th toe human_phenotype HP:0010337 Aplasia/Hypoplasia of the 4th toe HP:0010337 Absent/small 4th toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 4th toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:41:21Z UMLS:C4021293 Displacement of the 4th toe human_phenotype HP:0010338 Deviation of the 4th toe HP:0010338 One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. 2009-07-16T11:41:21Z UMLS:C4021292 Joint contractures of the 4th toe human_phenotype HP:0010339 Flexion contracture of the 4th toe HP:0010339 One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 2009-07-16T11:41:21Z UMLS:C4023894 human_phenotype HP:0010340 Polydactyly affecting the 4th toe HP:0010340 2009-07-16T11:41:49Z UMLS:C4023893 Abnormality of the end part of the little toe bone Abnormality of the end part of the pinkie toe bone Abnormality of the end part of the pinky toe bone human_phenotype HP:0010341 Abnormality of the epiphyses of the 5th toe HP:0010341 Abnormality of the end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:41:49Z UMLS:C4023892 Abnormality of the little toe bones Abnormality of the pinkie toe bones Abnormality of the pinky toe bones human_phenotype HP:0010342 Abnormality of the phalanges of the 5th toe HP:0010342 Abnormality of the little toe bones https://orcid.org/0000-0001-5208-3432 Abnormality of the pinkie toe bones https://orcid.org/0000-0001-5208-3432 Abnormality of the pinky toe bones https://orcid.org/0000-0001-5208-3432 2009-07-16T11:41:49Z UMLS:C4023891 Absent/small little toe Absent/small pinkie toe Absent/small pinky toe Absent/underdeveloped pinky toe human_phenotype HP:0010343 Aplasia/Hypoplasia of the 5th toe HP:0010343 Absent/small little toe https://orcid.org/0000-0001-5208-3432 Absent/small pinkie toe https://orcid.org/0000-0001-5208-3432 Absent/small pinky toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:41:49Z UMLS:C4021291 Displacement of the 5th toe Displacement of the little toe Displacement of the pinkie toe Displacement of the pinky toe human_phenotype HP:0010344 Deviation of the 5th toe HP:0010344 Displacement of the little toe https://orcid.org/0000-0001-5208-3432 Displacement of the pinkie toe https://orcid.org/0000-0001-5208-3432 Displacement of the pinky toe https://orcid.org/0000-0001-5208-3432 One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. 2009-07-16T11:41:49Z UMLS:C4021290 Joint contractures of the 5th toe human_phenotype HP:0010345 Flexion contracture of the 5th toe HP:0010345 One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 Joint contractures of the 5th toe true HP:0010346 2009-07-16T11:45:34Z UMLS:C4023890 Absent/small bones of 2nd toe Absent/underdeveloped bones of 2nd toe human_phenotype HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe HP:0010347 Absent/small bones of 2nd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped bones of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:45:34Z UMLS:C4023889 Broad bones of the 2nd toe human_phenotype HP:0010348 Broad phalanges of the 2nd toe HP:0010348 Broad bones of the 2nd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T11:45:34Z UMLS:C4021289 Bullet-shaped bones of the 2nd toe Bullet-shaped phalanges of the 2nd toe human_phenotype HP:0010349 Bullet-shaped 2nd toe phalanx HP:0010349 An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bones of the 2nd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more phalanges of the second toe. 2009-07-16T11:45:34Z UMLS:C4021288 Curved bones of the 2nd toe Curved phalanges of the 2nd toe human_phenotype HP:0010350 Curved 2nd toe phalanx HP:0010350 A deviation from the normal straight form of one or more phalanges of the second toe. https://orcid.org/0000-0002-0736-9199 Curved bones of the 2nd toe https://orcid.org/0000-0001-5208-3432 Curved phalanges of the 2nd toe 2009-07-16T11:45:34Z UMLS:C4023888 human_phenotype HP:0010351 Osteolytic defects of the phalanges of the 2nd toe HP:0010351 Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-07-16T11:45:34Z UMLS:C4021287 Patchy sclerosis of the phalanges of the 2nd toe Uneven increase in bone density in 2nd toe bone human_phenotype HP:0010352 Patchy sclerosis of 2nd toe phalanx HP:0010352 Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in 2nd toe bone https://orcid.org/0000-0001-5208-3432 Fusion of an interphalangeal joint of the second toe. 2009-07-16T11:45:34Z HP:0010410 HP:0100479 HP:0100489 UMLS:C4023887 2nd toe symphalangism Fused bones of 2nd toe Symphalangism affecting the phalanges of the 2nd toe human_phenotype HP:0010353 Second toe symphalangism HP:0010353 Fusion of an interphalangeal joint of the second toe. https://orcid.org/0000-0002-0736-9199 Fused bones of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:45:34Z UMLS:C4023886 Triangular shaped bone of 2nd toe Triangular shaped bone of second toe human_phenotype HP:0010354 Triangular shaped phalanges of the 2nd toe HP:0010354 Triangular shaped bone of 2nd toe https://orcid.org/0000-0001-5208-3432 Triangular shaped bone of second toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of a phalanx of second toe. 2009-07-16T11:45:34Z UMLS:C4021286 Duplication of the bones of the 2nd toe Partial/complete duplication of the phalanges of the 2nd toe human_phenotype HP:0010355 Duplication of the phalanges of the 2nd toe HP:0010355 Partial or complete duplication of a phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Duplication of the bones of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:45:34Z UMLS:C4023885 Abnormality of the outermost bone of the 2nd toe human_phenotype HP:0010356 Abnormality of the distal phalanx of the 2nd toe HP:0010356 Abnormality of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:45:34Z UMLS:C4023884 Abnormality of the middle bone of the 2nd toe human_phenotype HP:0010357 Abnormality of the middle phalanx of the 2nd toe HP:0010357 Abnormality of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:45:34Z UMLS:C4023883 Abnormality of the innermost bone of the 2nd toe human_phenotype HP:0010358 Abnormal morphology of the proximal phalanx of the 2nd toe HP:0010358 Abnormality of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:17Z UMLS:C4023882 Absent/small bones of 3rd toe Absent/underdeveloped bones of 3rd toe human_phenotype HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe HP:0010359 Absent/small bones of 3rd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped bones of 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:17Z UMLS:C4023881 Wide bones of 3rd toe human_phenotype HP:0010360 Broad phalanges of the 3rd toe HP:0010360 Wide bones of 3rd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T11:51:17Z UMLS:C4021285 Bullet-shaped bones of 3rd toe Bullet-shaped phalanges of the 3rd toe human_phenotype HP:0010361 Bullet-shaped 3rd toe phalanx HP:0010361 An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bones of 3rd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more phalanges of the third toe. 2009-07-16T11:51:17Z UMLS:C4021284 Curved bones of 3rd toe Curved phalanges of the 3rd toe human_phenotype HP:0010362 Curved 3rd toe phalanx HP:0010362 A deviation from the normal straight form of one or more phalanges of the third toe. https://orcid.org/0000-0002-0736-9199 Curved bones of 3rd toe https://orcid.org/0000-0001-5208-3432 Curved phalanges of the 3rd toe 2009-07-16T11:51:17Z UMLS:C4021825 human_phenotype HP:0010363 Osteolytic defects of the phalanges of the 3rd toe HP:0010363 Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-07-16T11:51:17Z UMLS:C4021283 Patchy sclerosis of the phalanges of the 3rd toe Uneven increase in bone density in 3rd toe bone human_phenotype HP:0010364 Patchy sclerosis of 3rd toe phalanx HP:0010364 Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in 3rd toe bone https://orcid.org/0000-0001-5208-3432 Fusion of an interphalangeal joint of the third toe. 2009-07-16T11:51:17Z HP:0100470 HP:0100473 UMLS:C4023880 Fused bones of 3rd toe human_phenotype HP:0010365 Third toe symphalangism HP:0010365 Fused bones of 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:17Z UMLS:C4023879 Triangular shaped 3rd toe bones human_phenotype HP:0010366 Triangular shaped phalanges of the 3rd toe HP:0010366 Triangular shaped 3rd toe bones https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of phalanx of third toe. 2009-07-16T11:51:17Z UMLS:C4021282 Duplication of 3rd toe bone Duplication of phalanx of the third toe Partial/complete duplication of the phalanges of the 3rd toe human_phenotype HP:0010367 Duplication of phalanx of the 3rd toe HP:0010367 Partial or complete duplication of phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Duplication of 3rd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:17Z UMLS:C4023878 Abnormality of the outermost bone of the 3rd toe human_phenotype HP:0010368 Abnormality of the distal phalanx of the 3rd toe HP:0010368 Abnormality of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:17Z UMLS:C4023877 Abnormality of the middle bone of 3rd toe human_phenotype HP:0010369 Abnormality of the middle phalanx of the 3rd toe HP:0010369 Abnormality of the middle bone of 3rd toe https://orcid.org/0000-0001-5208-3432 An anomaly of the proximal phalanx of third toe. 2009-07-16T11:51:17Z UMLS:C4023876 Abnormality of the innermost bone of 3rd toe human_phenotype HP:0010370 Abnormal morphology of the proximal phalanx of the 3rd toe HP:0010370 An anomaly of the proximal phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Abnormality of the innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023875 Absent/small bones of 4th toe Absent/underdeveloped bones of 4th toe human_phenotype HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe HP:0010371 Absent/small bones of 4th toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped bones of 4th toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023874 Broad bones of the 4th toe human_phenotype HP:0010372 Broad phalanges of the 4th toe HP:0010372 Broad bones of the 4th toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T11:51:46Z UMLS:C4021281 Bullet-shaped bones of the 4th toe Bullet-shaped phalanges of the 4th toe human_phenotype HP:0010373 Bullet-shaped 4th toe phalanx HP:0010373 An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bones of the 4th toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more phalanges of the fourth toe. 2009-07-16T11:51:46Z UMLS:C4021280 Curved bones of 4th toe Curved phalanges of the 4th toe human_phenotype HP:0010374 Curved 4th toe phalanx HP:0010374 A deviation from the normal straight form of one or more phalanges of the fourth toe. https://orcid.org/0000-0002-0736-9199 Curved bones of 4th toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023873 human_phenotype HP:0010375 Osteolytic defects of the phalanges of the 4th toe HP:0010375 Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-07-16T11:51:46Z UMLS:C4021279 Patchy sclerosis of the phalanges of the 4th toe Uneven increase in bone density in 4th toe bone human_phenotype HP:0010376 Patchy sclerosis of 4th toe phalanx HP:0010376 Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Patchy sclerosis of the phalanges of the 4th toe Uneven increase in bone density in 4th toe bone https://orcid.org/0000-0001-5208-3432 Fusion of an interphalangeal joint of the fourth toe. 2009-07-16T11:51:46Z HP:0100471 UMLS:C4023872 Fused bones of 4th toe human_phenotype HP:0010377 Fourth toe symphalangism HP:0010377 Fused bones of 4th toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023871 Triangular shaped bones of 4th toe human_phenotype HP:0010378 Triangular shaped phalanges of the 4th toe HP:0010378 Triangular shaped bones of 4th toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of phalanx of fourth toe. 2009-07-16T11:51:46Z UMLS:C4021278 Duplication of 4th toe bone Duplication of phalanx of the fourth toe Partial/complete duplication of the phalanges of the 4th toe human_phenotype HP:0010379 Duplication of phalanx of the 4th toe HP:0010379 Partial or complete duplication of phalanx of fourth toe. https://orcid.org/0000-0002-0736-9199 Duplication of 4th toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023870 Abnormality of the outermost 4th toe bone human_phenotype HP:0010380 Abnormality of the distal phalanx of the 4th toe HP:0010380 Abnormality of the outermost 4th toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023869 Abnormality of middle 4th toe bone human_phenotype HP:0010381 Abnormality of the middle phalanx of the 4th toe HP:0010381 Abnormality of middle 4th toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:51:46Z UMLS:C4023868 Abnormal innermost 4th toe bone human_phenotype HP:0010382 Abnormal morphology of the proximal phalanx of the 4th toe HP:0010382 Abnormal innermost 4th toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023867 Absent/small little toe bones Absent/small pinkie toe bones Absent/small pinky toe bones Absent/underdeveloped pinky toe bones human_phenotype HP:0010383 Aplasia/Hypoplasia of the phalanges of the 5th toe HP:0010383 Absent/small little toe bones https://orcid.org/0000-0001-5208-3432 Absent/small pinkie toe bones https://orcid.org/0000-0001-5208-3432 Absent/small pinky toe bones https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pinky toe bones https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023866 Broad bones of the little toe Broad bones of the pinkie toe Broad bones of the pinky toe human_phenotype HP:0010384 Broad phalanges of the 5th toe HP:0010384 Broad bones of the little toe https://orcid.org/0000-0001-5208-3432 Broad bones of the pinkie toe https://orcid.org/0000-0001-5208-3432 Broad bones of the pinky toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T11:52:18Z UMLS:C4021277 Bullet-shaped bones of the little toe Bullet-shaped bones of the pinkie toe Bullet-shaped bones of the pinky toe Bullet-shaped phalanges of the 5th toe human_phenotype HP:0010385 Bullet-shaped 5th toe phalanx HP:0010385 An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped bones of the little toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped bones of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped bones of the pinky toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of one or more phalanges of the fifth toe. 2009-07-16T11:52:18Z UMLS:C4021276 Curved little toe bones Curved phalanges of the 5th toe Curved pinkie toe bones Curved pinky toe bones human_phenotype HP:0010386 Curved 5th toe phalanx HP:0010386 A deviation from the normal straight form of one or more phalanges of the fifth toe. https://orcid.org/0000-0002-0736-9199 Curved little toe bones https://orcid.org/0000-0001-5208-3432 Curved pinkie toe bones https://orcid.org/0000-0001-5208-3432 Curved pinky toe bones https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023865 human_phenotype HP:0010387 Osteolytic defects of the phalanges of the 5th toe HP:0010387 Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2009-07-16T11:52:18Z UMLS:C4021275 Patchy sclerosis of the phalanges of the 5th toe Uneven increase in bone density in little toe bone Uneven increase in bone density in pinkie toe bone Uneven increase in bone density in pinky toe bone human_phenotype HP:0010388 Patchy sclerosis of 5th toe phalanx HP:0010388 Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in little toe bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in pinkie toe bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in pinky toe bone https://orcid.org/0000-0001-5208-3432 Fusion of an interphalangeal joint of the fifth (little) toe. 2009-07-16T11:52:18Z HP:0100472 HP:0100475 UMLS:C4023864 Fused bones in the little toe Fused bones in the pinkie toe Fused bones in the pinky toe human_phenotype HP:0010389 Fifth toe symphalangism HP:0010389 Fused bones in the little toe https://orcid.org/0000-0001-5208-3432 Fused bones in the pinkie toe https://orcid.org/0000-0001-5208-3432 Fused bones in the pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023863 Triangular shaped little toe bone Triangular shaped pinkie toe bone Triangular shaped pinky toe bone human_phenotype HP:0010390 Triangular shaped phalanges of the 5th toe HP:0010390 Triangular shaped little toe bone https://orcid.org/0000-0001-5889-4463 Triangular shaped pinkie toe bone https://orcid.org/0000-0001-5889-4463 Triangular shaped pinky toe bone https://orcid.org/0000-0001-5889-4463 Partial or complete duplication of one or more phalanx of little toe. 2009-07-16T11:52:18Z UMLS:C4020903 Duplication of the bones of the little toe Duplication of the bones of the pinkie toe Duplication of the bones of the pinky toe Duplication of the phalanges of the fifth toe Partial/complete duplication of the phalanges of the 5th toe human_phenotype HP:0010391 Duplication of the phalanges of the 5th toe HP:0010391 Partial or complete duplication of one or more phalanx of little toe. https://orcid.org/0000-0002-0736-9199 Duplication of the bones of the little toe https://orcid.org/0000-0001-5208-3432 Duplication of the bones of the pinkie toe https://orcid.org/0000-0001-5208-3432 Duplication of the bones of the pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023862 Abnormality of the outermost bone of the little toe Abnormality of the outermost bone of the pinkie toe Abnormality of the outermost bone of the pinky toe human_phenotype HP:0010392 Abnormality of the distal phalanx of the 5th toe HP:0010392 Abnormality of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023861 Abnormality of the middle bone of the little toe Abnormality of the middle bone of the pinkie toe Abnormality of the middle bone of the pinky toe human_phenotype HP:0010393 Abnormality of the middle phalanx of the 5th toe HP:0010393 Abnormality of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:52:18Z UMLS:C4023860 Abnormality of the innermost bone of the little toe Abnormality of the innermost bone of the pinkie toe Abnormality of the innermost bone of the pinky toe human_phenotype HP:0010394 Abnormal morphology of the proximal phalanx of the 5th toe HP:0010394 Abnormality of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. 2009-07-16T11:58:15Z UMLS:C4023859 Absent/small innermost 2nd toe bone Absent/underdeveloped innermost 2nd toe bone human_phenotype HP:0010395 Aplasia/hypoplasia of the proximal phalanx of the 2nd toe HP:0010395 Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Absent/small innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T11:58:15Z UMLS:C4023858 Broad innermost bone of 2nd toe human_phenotype HP:0010396 Broad proximal phalanx of the 2nd toe HP:0010396 Broad innermost bone of 2nd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T11:58:15Z UMLS:C4023857 Bullet-shaped innermost bone of 2nd toe human_phenotype HP:0010397 Bullet-shaped proximal phalanx of the 2nd toe HP:0010397 An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost bone of 2nd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the proximal phalanx of the 2nd toe. 2009-07-16T11:58:15Z UMLS:C4023856 Curved innermost bone of 2nd toe human_phenotype HP:0010398 Curved proximal phalanx of the 2nd toe HP:0010398 A deviation from the normal straight form of the proximal phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:58:15Z UMLS:C4023855 human_phenotype HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toe HP:0010399 2009-07-16T11:58:15Z UMLS:C4023854 Uneven increase in bone density in the innermost bone of the 2nd toe human_phenotype HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toe HP:0010400 Uneven increase in bone density in the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Bony fusion of the middle and proximal phalanges of the second toe. 2009-07-16T11:58:15Z UMLS:C4023853 Fused innermost bone of the 2nd toe human_phenotype HP:0010401 Proximal 2nd toe symphalangism HP:0010401 Fused innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T11:58:15Z UMLS:C4023852 Triangular shaped innermost 2nd toe bone human_phenotype HP:0010402 Triangular shaped proximal phalanx of the 2nd toe HP:0010402 Triangular shaped innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of proximal phalanx of second toe. 2009-07-16T11:58:15Z UMLS:C4021274 Duplication of innermost 2nd toe bone Duplication of the proximal phalanx of the second toe Partial/complete duplication of the proximal phalanx of the 2nd toe human_phenotype HP:0010403 Duplication of the proximal phalanx of the 2nd toe HP:0010403 Partial or complete duplication of proximal phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Duplication of innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T12:43:52Z UMLS:C4023851 Absent/small middle bone of 2nd toe Absent/underdeveloped middle bone of 2nd toe human_phenotype HP:0010404 Aplasia/Hypoplasia of the middle phalanx of the 2nd toe HP:0010404 Absent/small middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T12:43:52Z UMLS:C4023850 Broad middle bone of 2nd toe human_phenotype HP:0010405 Broad middle phalanx of the 2nd toe HP:0010405 Broad middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T12:43:52Z UMLS:C4023849 Bullet-shaped middle bone of 2nd toe human_phenotype HP:0010406 Bullet-shaped middle phalanx of the 2nd toe HP:0010406 An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the middle phalanx of the 2nd toe. 2009-07-16T12:43:52Z UMLS:C4023848 Curved middle bone of 2nd toe human_phenotype HP:0010407 Curved middle phalanx of the 2nd toe HP:0010407 A deviation from the normal straight form of the middle phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Curved middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T12:43:52Z UMLS:C4023847 human_phenotype HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toe HP:0010408 2009-07-16T12:43:52Z UMLS:C4023846 Uneven increase in bone density in the middle bone of the 2nd toe human_phenotype HP:0010409 Patchy sclerosis of the middle phalanx of the 2nd toe HP:0010409 Uneven increase in bone density in the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 HP:0010353 2009-07-16T12:43:52Z human_phenotype HP:0010410 obsolete Symphalangism affecting the middle phalanx of the 2nd toe true HP:0010410 2009-07-16T12:43:52Z UMLS:C4023844 Triangular shaped middle bone of 2nd toe human_phenotype HP:0010411 Triangular shaped middle phalanx of the 2nd toe HP:0010411 Triangular shaped middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of middle phalanx of second toe. 2009-07-16T12:43:52Z UMLS:C4021273 Duplication of middle bone of 2nd toe Partial/complete duplication of the middle phalanx of the 2nd toe human_phenotype HP:0010412 Duplication of the middle phalanx of the 2nd toe HP:0010412 Partial or complete duplication of middle phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Duplication of middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T12:44:41Z UMLS:C4023843 Absent/small outermost 2nd toe bone Absent/underdeveloped outermost 2nd toe bone human_phenotype HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe HP:0010413 Absent/small outermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T12:44:41Z UMLS:C4023842 Broad outermost bone of the 2nd toe Wide outermost bone of the 2nd toe human_phenotype HP:0010414 Broad distal phalanx of the 2nd toe HP:0010414 Broad outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. 2009-07-16T12:44:41Z UMLS:C4023841 Bullet-shaped outermost bone of the 2nd toe human_phenotype HP:0010415 Bullet-shaped distal phalanx of the 2nd toe HP:0010415 An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the distal phalanx of the 2nd toe. 2009-07-16T12:44:41Z UMLS:C4023840 Curved outermost bone of the 2nd toe human_phenotype HP:0010416 Curved distal phalanx of the 2nd toe HP:0010416 A deviation from the normal straight form of the distal phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T12:44:41Z UMLS:C4023839 human_phenotype HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toe HP:0010417 2009-07-16T12:44:41Z UMLS:C4023838 Uneven increase in bone density in the outermost bone of the 2nd toe human_phenotype HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toe HP:0010418 Uneven increase in bone density in the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Bony fusion at the distal interphalangeal joint of the second toe (end-to-end fusion of the medial and distal phalanx of the second toe). 2009-07-16T12:44:41Z UMLS:C4023837 Fused outermost bone of the 2nd toe human_phenotype HP:0010419 Distal 2nd toe symphalangism HP:0010419 Fused outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T12:44:41Z UMLS:C4023836 Triangular shaped outermost 2nd toe bone human_phenotype HP:0010420 Triangular shaped distal phalanx of the 2nd toe HP:0010420 Triangular shaped outermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of second toe. 2009-07-16T12:44:41Z UMLS:C4021272 Duplication of the outermost bone of the 2nd toe Partial/complete duplication of the distal phalanx of the 2nd toe human_phenotype HP:0010421 Duplication of the distal phalanx of the 2nd toe HP:0010421 Partial or complete duplication of the distal phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Duplication of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Complete duplication of proximal phalanx of second toe. 2009-07-16T12:56:56Z UMLS:C4021271 Complete duplication of the innermost 2nd toe bone Complete duplication of the proximal phalanx of the second toe human_phenotype HP:0010422 Complete duplication of the proximal phalanx of the 2nd toe HP:0010422 Complete duplication of proximal phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Partial duplication of proximal phalanx of second toe. 2009-07-16T12:56:56Z UMLS:C4021270 Partial duplication of the innermost 2nd toe bone Partial duplication of the proximal phalanx of the second toe human_phenotype HP:0010423 Partial duplication of the proximal phalanx of the 2nd toe HP:0010423 Partial duplication of proximal phalanx of second toe. https://orcid.org/0000-0002-0736-9199 Partial duplication of the innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of second toe. 2009-07-16T12:57:27Z UMLS:C4023835 Complete duplication of the outermost bone of the 2nd toe human_phenotype HP:0010424 Complete duplication of the distal phalanx of the 2nd toe HP:0010424 Complete duplication of the distal phalanx of second toe. https://orcid.org/0000-0002-0736-9199 Complete duplication of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of second toe. 2009-07-16T12:57:27Z UMLS:C4023834 Partial duplication of the outermost bone of the 2nd toe human_phenotype HP:0010425 Partial duplication of the distal phalanx of the 2nd toe HP:0010425 Partial duplication of the distal phalanx of second toe. https://orcid.org/0000-0002-0736-9199 Partial duplication of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Complete duplication of middle phalanx of second toe. 2009-07-16T12:58:18Z UMLS:C4023833 Complete duplication of the middle bone of the 2nd toe human_phenotype HP:0010426 Complete duplication of the middle phalanx of the 2nd toe HP:0010426 Complete duplication of middle phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Partial duplication of middle phalanx of second toe. 2009-07-16T12:58:18Z UMLS:C4023832 Partial duplication of the middle bone of the 2nd toe human_phenotype HP:0010427 Partial duplication of the middle phalanx of the 2nd toe HP:0010427 Partial duplication of middle phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Partial duplication of a phalanx of second toe. 2009-07-16T04:07:33Z UMLS:C4023831 Partial duplication of 2nd toe bone human_phenotype HP:0010428 Partial duplication of phalanx of the 2nd toe HP:0010428 Partial duplication of a phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of 2nd toe bone https://orcid.org/0000-0001-5208-3432 Complete duplication of a phalanx of second toe. 2009-07-16T04:07:33Z UMLS:C4023830 Complete duplication of the 2nd toe bones human_phenotype HP:0010429 Complete duplication of the phalanges of the 2nd toe HP:0010429 Complete duplication of a phalanx of second toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the 2nd toe bones https://orcid.org/0000-0001-5208-3432 2009-07-16T04:27:29Z HP:0100361 UMLS:C4023829 Absent 2nd toe bones human_phenotype HP:0010430 Aplasia of the phalanges of the 2nd toe HP:0010430 Absent 2nd toe bones https://orcid.org/0000-0001-5208-3432 Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. 2009-07-16T04:27:29Z HP:0100365 UMLS:C4021269 Hypoplastic/small phalanges of the 2nd toe Short 2nd toe bone Short phalanx of the second toe human_phenotype HP:0010431 Short phalanx of the 2nd toe HP:0010431 Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia. https://orcid.org/0000-0002-0736-9199 Short 2nd toe bone https://orcid.org/0000-0001-5208-3432 Absence of distal phalanx of the second toe as a result of developmental aplasia. 2009-07-16T04:28:07Z UMLS:C4021268 Absent distal phalanx of the second toe Absent outermost bone of the 2nd toe Aplasia of the distal phalanx of the 2nd toe human_phenotype HP:0010432 Absent distal phalanx of the 2nd toe HP:0010432 Absence of distal phalanx of the second toe as a result of developmental aplasia. https://orcid.org/0000-0002-0736-9199 Absent outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. 2009-07-16T04:28:07Z UMLS:C4021267 Hypoplastic/small distal phalanx of the 2nd toe Short distal phalanx of the second toe Short outermost bone of the 2nd toe human_phenotype HP:0010433 Short distal phalanx of the 2nd toe HP:0010433 Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia. https://orcid.org/0000-0002-0736-9199 Short outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2009-07-16T04:28:48Z UMLS:C4023828 Absent middle bone of 2nd toe human_phenotype HP:0010434 Aplasia of the middle phalanx of the 2nd toe HP:0010434 Absent middle bone of 2nd toe https://orcid.org/0000-0001-5208-3432 Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. 2009-07-16T04:28:48Z UMLS:C4021266 Hypoplastic/small middle phalanx of the 2nd toe Short middle 2nd toe bone Short middle phalanx of the second toe human_phenotype HP:0010435 Short middle phalanx of the 2nd toe HP:0010435 Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia. https://orcid.org/0000-0002-0736-9199 Short middle 2nd toe bone https://orcid.org/0000-0001-5208-3432 2009-07-16T04:29:25Z UMLS:C4023827 Absent innermost 2nd toe bone human_phenotype HP:0010436 Aplasia of the proximal phalanx of the 2nd toe HP:0010436 Absent innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. 2009-07-16T04:29:25Z UMLS:C4021265 Hypoplastic/small proximal phalanx of the 2nd toe Short innermost 2nd toe bone Short proximal phalanx of the second toe human_phenotype HP:0010437 Short proximal phalanx of the 2nd toe HP:0010437 Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia. https://orcid.org/0009-0006-4530-3154 Short innermost 2nd toe bone https://orcid.org/0000-0001-5208-3432 A structural abnormality of the interventricular septum. 2009-07-27T11:59:56Z HP:0001628 Fyler:1815 UMLS:C4021264 Abnormal interventricular septum morphology Abnormality of the ventricular septum Ventricular septum abnormality human_phenotype HP:0010438 Abnormal ventricular septum morphology HP:0010438 A structural abnormality of the interventricular septum. https://orcid.org/0000-0002-0736-9199 Abnormal interventricular septum morphology https://orcid.org/0000-0001-5208-3432 true HP:0010439 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). 2009-07-29T01:23:02Z UMLS:C4023826 human_phenotype HP:0010440 Ectopic accessory toe-like appendage HP:0010440 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). https://orcid.org/0000-0002-0736-9199 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). 2009-07-29T01:34:47Z UMLS:C4023825 human_phenotype HP:0010441 Ectopic accessory finger-like appendage HP:0010441 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). https://orcid.org/0000-0002-0736-9199 A congenital anomaly characterized by the presence of supernumerary fingers or toes. 2009-07-29T01:39:27Z HP:0006034 HP:0006046 HP:0006123 HP:0009605 Fyler:4103 SNOMEDCT_US:367506006 UMLS:C0152427 More than five fingers or toes on hands or feet human_phenotype HP:0010442 Polydactyly HP:0010442 A congenital anomaly characterized by the presence of supernumerary fingers or toes. https://orcid.org/0000-0002-0736-9199 More than five fingers or toes on hands or feet https://orcid.org/0000-0002-6548-5200 A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. 2009-07-29T04:29:30Z UMLS:C4023824 Notched thighbone Split thighbone human_phenotype HP:0010443 Bifid femur HP:0010443 A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. https://orcid.org/0000-0002-0736-9199 Notched thighbone https://orcid.org/0000-0001-5208-3432 Split thighbone https://orcid.org/0000-0001-5208-3432 The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. 2009-09-14T09:54:12Z SNOMEDCT_US:91434003 UMLS:C0034088 Pulmonary incompetence Pulmonary valve insufficiency Pulmonary valve regurgitation Puolmonary valve insufficiency human_phenotype HP:0010444 The pulmonary valve directs blood from the right ventricle (RV) towards the pulmonary arteries during systole. Pulmonic regurgitation HP:0010444 The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. PMID:32491496 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-3302-4610 An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. 2009-09-14T09:59:38Z Fyler:1110 SNOMEDCT_US:253373002 UMLS:C0344735 UMLS:C0741296 Atrial septal defect, primum type Ostium primum atrial septal defect Primum atrioventricular canal defect Septum primum defect ostium primum ASD human_phenotype HP:0010445 With this type of ASD, communication persists when the septum primum fails to fuse with the endocardial cushions, thus leaving an opening between both atria near the atrial floor, being a mid/late event in atrial septation. Due to the association with endocardial cushion abnormalities, this defect may be associated with either atrioventricular valve anomalies, such as mitral valve cleft, or a complete atrioventricular septal defect. Primum atrial septal defect HP:0010445 An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. HPO_CONTRIBUTOR:DDD_dbrown PMID:40843896 https://orcid.org/0000-0002-0736-9199 Atrial septal defect, primum type https://orcid.org/0000-0002-5316-1399 ostium primum ASD A narrowing of the orifice of the tricuspid valve of the heart. 2009-09-14T10:10:10Z EPCC:06.01.92 ICD-10:Q22.4 SNOMEDCT_US:49915006 UMLS:C0040963 human_phenotype HP:0010446 Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border. Tricuspid stenosis HP:0010446 A narrowing of the orifice of the tricuspid valve of the heart. PMID:18222317 https://orcid.org/0000-0002-0736-9199 An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. 2009-09-14T10:16:39Z MEDDRA:10002156 SNOMEDCT_US:72779005 UMLS:C0205929 Fistula in ano human_phenotype HP:0010447 Anal fistula HP:0010447 An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. https://orcid.org/0000-0002-0736-9199 MEDDRA:10002156 Anal fistula A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. 2009-09-14T10:23:09Z SNOMEDCT_US:37054000 UMLS:C0266190 Atresia of the large intestine Large intestinal atresia human_phenotype HP:0010448 Colonic atresia HP:0010448 A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. https://orcid.org/0000-0002-0736-9199 true HP:0010449 An abnormal narrowing of the lumen of the esophagus. 2009-09-14T10:42:33Z SNOMEDCT_US:63305008 UMLS:C0014866 Narrowing of the esophagus Narrowing of the oesophagus human_phenotype HP:0010450 Esophageal stenosis HP:0010450 An abnormal narrowing of the lumen of the esophagus. https://orcid.org/0000-0002-0736-9199 Narrowing of the esophagus https://orcid.org/0000-0001-5208-3432 Narrowing of the oesophagus Absence or underdevelopment of the spleen. 2009-09-14T10:48:29Z UMLS:C4023823 Absent/small spleen Absent/underdeveloped spleen human_phenotype HP:0010451 Aplasia/Hypoplasia of the spleen HP:0010451 Absence or underdevelopment of the spleen. https://orcid.org/0000-0002-0736-9199 Absent/small spleen https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped spleen https://orcid.org/0000-0001-5208-3432 An abnormal (non-anatomic) location of the spleen. 2009-09-14T10:51:09Z SNOMEDCT_US:65146007 UMLS:C0266632 Abnormal spleen location Ectopic spleen human_phenotype HP:0010452 Ectopia of the spleen HP:0010452 An abnormal (non-anatomic) location of the spleen. https://orcid.org/0000-0002-0736-9199 Abnormal spleen location https://orcid.org/0000-0001-5208-3432 Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. 2009-09-14T11:01:50Z Pelvic asymmetry UMLS:C4021263 Asymmetric pelvis human_phenotype HP:0010453 Pelvic bone asymmetry HP:0010453 Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology. https://orcid.org/0000-0002-0736-9199 Pelvic asymmetry https://orcid.org/0000-0002-5316-1399 The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. 2009-09-14T11:15:40Z UMLS:C3808270 human_phenotype HP:0010454 Acetabular spurs HP:0010454 The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. https://orcid.org/0000-0002-0736-9199 An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. 2009-09-14T11:18:20Z UMLS:C3150931 human_phenotype HP:0010455 Steep acetabular roof HP:0010455 An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. https://orcid.org/0000-0002-0736-9199 An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. 2009-09-15T08:14:32Z HP:0030266 UMLS:C4023822 Abnormality of greater sciatic notch Abnormality of the greater sacrosciatic notch Abnormality of the sacroiliac notch human_phenotype HP:0010456 Abnormal greater sciatic notch morphology HP:0010456 An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. https://orcid.org/0000-0002-0736-9199 HP:0008798 2009-09-15T08:16:32Z human_phenotype HP:0010457 obsolete Widening of the sacrosciatic notch true HP:0010457 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. 2009-09-15T08:21:32Z SNOMEDCT_US:8800006 UMLS:C0238394 human_phenotype HP:0010458 Female pseudohermaphroditism HP:0010458 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. https://orcid.org/0000-0002-0736-9199 The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. 2009-09-15T08:28:15Z HP:0003242 SNOMEDCT_US:18978002 UMLS:C0266361 Testicular and ovarian tissue present human_phenotype HP:0010459 In true hermaphroditism, the testicular tissue must have well developed seminiferous tubules, and the ovarian tissue primordial follicles. The external genitalia are usually associated with variable degrees of sexual ambiguity, depending on the amount of functioning testicular tissue. Internally, a uterus is almost always present, but the development of Mullerian and Wolffian structures is variable and generally depends on the adjacent gonad. Usually there is a vas deferens on the side of the testis, and a Fallopian tube on the side of the ovary. Both types of ducts can occur next to an ovotestis. An ovotestis is the most common gonad found in true hermaphroditism and can be coded with HP:0012861. True hermaphroditism HP:0010459 The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. PMID:11327376 https://orcid.org/0000-0002-0736-9199 Abnormality of the female genital system. 2009-09-15T08:32:09Z UMLS:C4023820 human_phenotype HP:0010460 Abnormality of the female internal or external genitalia. Abnormality of the female genitalia HP:0010460 Abnormality of the female genital system. https://orcid.org/0000-0002-0736-9199 Abnormality of the male genital system. 2009-09-15T08:33:20Z UMLS:C4023819 Abnormal male genitals Abnormality of the male genitalia human_phenotype HP:0010461 Abnormality of the male genitalia HP:0010461 Abnormality of the male genital system. https://orcid.org/0000-0002-0736-9199 Abnormal male genitals Abnormality of the male genitalia Aplasia or developmental hypoplasia of the ovary. 2009-09-15T08:38:35Z UMLS:C4023818 Absent/small ovary Absent/underdeveloped ovary human_phenotype HP:0010462 Aplasia/Hypoplasia of the ovary HP:0010462 Aplasia or developmental hypoplasia of the ovary. https://orcid.org/0000-0002-0736-9199 Absent/small ovary https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped ovary https://orcid.org/0000-0001-5208-3432 Aplasia, that is failure to develop, of the ovary. 2009-09-15T08:40:06Z SNOMEDCT_US:12017008 UMLS:C0266368 Absent ovary human_phenotype Aplasia of the ovaries Bilateral absent ovaries HP:0010463 Aplasia of the ovary HP:0010463 Aplasia, that is failure to develop, of the ovary. https://orcid.org/0000-0002-0736-9199 Absent ovary Bilateral absent ovaries https://orcid.org/0000-0001-5208-3432 A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. 2009-09-15T08:42:35Z SNOMEDCT_US:70550008 UMLS:C0266371 human_phenotype HP:0010464 Streak ovary HP:0010464 A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. https://orcid.org/0000-0002-0736-9199 The onset of puberty before the age of 8 years in girls. 2009-09-15T08:48:42Z SNOMEDCT_US:19911007 UMLS:C0271616 human_phenotype HP:0010465 Precocious puberty in females HP:0010465 The onset of puberty before the age of 8 years in girls. https://orcid.org/0000-0002-0736-9199 true HP:0010466 true HP:0010467 Absence or underdevelopment of the testes. 2009-09-15T09:28:46Z UMLS:C4023817 Absent/small testes Absent/underdeveloped testes human_phenotype HP:0010468 Aplasia/Hypoplasia of the testes HP:0010468 Absence or underdevelopment of the testes. https://orcid.org/0000-0002-0736-9199 Absent/small testes https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped testes https://orcid.org/0000-0001-5208-3432 Testis not palpable in the scrotum or inguinal canal. 2009-09-15T09:29:16Z UMLS:C4023816 Absence of palpable testicules Absent testes Aplasia of the testes human_phenotype HP:0010469 Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies. Absent testis HP:0010469 Testis not palpable in the scrotum or inguinal canal. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Absence of palpable testicules https://orcid.org/0000-0002-5316-1399 Absent testes https://orcid.org/0000-0001-5208-3432 The presence of more than two testes. 2009-09-15T09:34:18Z SNOMEDCT_US:17471001 UMLS:C0266430 Extra testes Polyorchidism human_phenotype HP:0010470 Supernumerary testes HP:0010470 The presence of more than two testes. https://orcid.org/0000-0002-0736-9199 Extra testes https://orcid.org/0000-0001-5208-3432 Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. 2009-09-15T09:48:34Z UMLS:C4023815 human_phenotype HP:0010471 Oligosacchariduria HP:0010471 Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of porphyrins in the blood circulation. 2009-09-15T09:53:11Z UMLS:C4023814 Abnormal circulating porphyrin concentration Abnormal porphyrins level human_phenotype HP:0010472 Abnormal circulating porphyrin concentration HP:0010472 Abnormally increased excretion of porphyrins in the urine. 2009-09-15T09:57:34Z SNOMEDCT_US:44574006 UMLS:C0151861 human_phenotype HP:0010473 Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. Porphyrinuria HP:0010473 Abnormally increased excretion of porphyrins in the urine. https://orcid.org/0000-0002-0736-9199 Buildups of minerals that form in the urinary bladder. 2009-09-15T10:03:20Z SNOMEDCT_US:70650003 UMLS:C0005683 Cystolithiasis human_phenotype HP:0010474 Bladder stones HP:0010474 Buildups of minerals that form in the urinary bladder. https://orcid.org/0000-0002-0736-9199 Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. 2009-09-15T10:08:32Z SNOMEDCT_US:20815007 UMLS:C0345217 human_phenotype HP:0010475 Cloacal exstrophy HP:0010475 Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the urinary bladder. 2009-09-15T10:09:48Z UMLS:C4023813 Absent/small bladder Absent/underdeveloped bladder human_phenotype HP:0010476 Aplasia/Hypoplasia of the bladder HP:0010476 Absence or underdevelopment of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Absent/small bladder https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped bladder https://orcid.org/0000-0001-5208-3432 Aplasia (absence) of the urinary bladder. 2009-09-15T10:10:19Z UMLS:C4023812 Absent bladder human_phenotype HP:0010477 Aplasia of the bladder HP:0010477 Aplasia (absence) of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Absent bladder https://orcid.org/0000-0001-5208-3432 Abnormality of the urachus. 2009-09-15T10:13:04Z UMLS:C4023811 human_phenotype HP:0010478 The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. Abnormality of the urachus HP:0010478 Abnormality of the urachus. https://orcid.org/0000-0002-0736-9199 Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. 2009-09-15T10:15:17Z SNOMEDCT_US:398316009 UMLS:C0266357 Persistent urachus human_phenotype HP:0010479 Patent urachus HP:0010479 Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. https://orcid.org/0000-0002-0736-9199 The presence of an abnormal connection between the urethra and another organ or the skin. 2009-09-15T10:37:37Z SNOMEDCT_US:14981000 UMLS:C0041970 human_phenotype HP:0010480 Urethral fistula HP:0010480 The presence of an abnormal connection between the urethra and another organ or the skin. https://orcid.org/0000-0002-0736-9199 The presence of an abnormal membrane obstructing the urethra. 2009-09-15T10:38:46Z SNOMEDCT_US:297163001 UMLS:C0266345 human_phenotype HP:0010481 Urethral valve HP:0010481 The presence of an abnormal membrane obstructing the urethra. https://orcid.org/0000-0002-0736-9199 Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. 2009-09-16T08:56:43Z UMLS:C4023810 human_phenotype HP:0010482 Acromelia of the upper limbs HP:0010482 Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments. https://orcid.org/0000-0002-0736-9199 Amniotic constriction rings affecting the arms. 2009-09-16T09:15:05Z UMLS:C4023809 human_phenotype HP:0010483 Amniotic constriction rings of arms HP:0010483 Amniotic constriction rings affecting the arms. https://orcid.org/0000-0002-0736-9199 Abnormal increase in size of the upper limbs (due to an increase of the size of cells). 2009-09-16T09:23:57Z SNOMEDCT_US:298745009 UMLS:C0575518 Increased size of upper limb human_phenotype HP:0010484 Hypertrophy of the upper limb HP:0010484 Abnormal increase in size of the upper limbs (due to an increase of the size of cells). https://orcid.org/0000-0002-0736-9199 Increased size of upper limb https://orcid.org/0000-0001-5208-3432 The ability of the elbow joint to move beyond its normal range of motion. 2009-09-16T10:05:52Z UMLS:C4023808 human_phenotype HP:0010485 Hyperextensibility at elbow HP:0010485 The ability of the elbow joint to move beyond its normal range of motion. https://orcid.org/0000-0002-0736-9199 An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). 2009-09-16T10:38:43Z UMLS:C4023807 human_phenotype HP:0010486 Abnormality of the hypothenar eminence HP:0010486 An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). https://orcid.org/0000-0002-0736-9199 Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. 2009-09-16T10:40:18Z HP:0005721 UMLS:C1861395 Hypoplasia of the hypothenar eminence Hypothenar hypoplasia human_phenotype HP:0010487 Small hypothenar eminence HP:0010487 Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the palmar creases. 2009-09-16T10:53:24Z UMLS:C4023806 Absent/small palm crease Absent/underdeveloped palm crease human_phenotype HP:0010488 Aplasia/Hypoplasia of the palmar creases HP:0010488 Absence or underdevelopment of the palmar creases. https://orcid.org/0000-0002-0736-9199 Absent/small palm crease https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped palm crease https://orcid.org/0000-0001-5208-3432 The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). 2009-09-16T10:54:09Z UMLS:C4021262 Absence of the palmar creases Absent palm lines Aplasia of the palmar creases human_phenotype HP:0010489 Absent palmar crease HP:0010489 The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). PMID:19125433 https://orcid.org/0000-0002-0736-9199 Absent palm lines https://orcid.org/0000-0001-5208-3432 An abnormality of the creases of the skin of palm of hand. 2009-09-16T10:54:52Z SNOMEDCT_US:205557000 UMLS:C0221199 Abnormality of the palm lines human_phenotype HP:0010490 Abnormality of the palmar creases HP:0010490 An abnormality of the creases of the skin of palm of hand. https://orcid.org/0000-0002-0736-9199 Abnormality of the palm lines https://orcid.org/0000-0001-5208-3432 A narrow segment of significantly reduced circumference of a digit. 2009-09-16T11:08:16Z UMLS:C4021261 Amniotic constriction rings of digits human_phenotype HP:0010491 The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. Digital constriction ring HP:0010491 A narrow segment of significantly reduced circumference of a digit. PMID:19125433 Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. 2009-09-16T11:20:38Z SNOMEDCT_US:2560006 UMLS:C0158736 Osseous syndactyly of the fingers human_phenotype HP:0010492 Bony fusions are referred to as bony syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as symphalangism. Osseous finger syndactyly HP:0010492 Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. https://orcid.org/0009-0006-4530-3154 An abnormally increased length of the metacarpal bones. 2009-09-17T10:25:37Z UMLS:C4021260 Elongated long bone of hand Increased length of metacarpals human_phenotype HP:0010493 Long metacarpals HP:0010493 An abnormally increased length of the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Elongated long bone of hand https://orcid.org/0000-0001-5208-3432 Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. 2009-09-17T11:04:51Z UMLS:C4023805 human_phenotype HP:0010494 Acromelia of the lower limbs HP:0010494 Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments. https://orcid.org/0000-0002-0736-9199 Amniotic constriction rings affecting the legs. 2009-09-17T11:07:10Z UMLS:C4023804 human_phenotype HP:0010495 Amniotic constriction rings of legs HP:0010495 Amniotic constriction rings affecting the legs. https://orcid.org/0000-0002-0736-9199 Abnormal increase in size of the lower limbs (due to an increase of the size of cells). 2009-09-17T11:08:38Z UMLS:C4023803 human_phenotype HP:0010496 Hypertrophy of the lower limb HP:0010496 Abnormal increase in size of the lower limbs (due to an increase of the size of cells). https://orcid.org/0000-0002-0736-9199 A developmental defect in which the legs are fused together. 2009-09-17T11:11:10Z MEDDRA:10049216 SNOMEDCT_US:253191000 SNOMEDCT_US:67254002 SNOMEDCT_US:91089008 UMLS:C0037205 human_phenotype Sympodia HP:0010497 Sirenomelia HP:0010497 A developmental defect in which the legs are fused together. https://orcid.org/0000-0002-0736-9199 MEDDRA:10049216 Sympodia A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. 2009-09-17T11:39:39Z SNOMEDCT_US:79214007 UMLS:C0265666 human_phenotype HP:0010498 Bipartite patella HP:0010498 A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood. https://orcid.org/0000-0002-0736-9199 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. 2009-09-17T11:46:41Z UMLS:C0857276 Partial knee cap dislocation Subluxation of patella human_phenotype HP:0010499 Patellar subluxation HP:0010499 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. https://orcid.org/0000-0002-0736-9199 Partial knee cap dislocation https://orcid.org/0000-0001-5208-3432 The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). 2009-09-19T09:44:04Z UMLS:C4023802 human_phenotype HP:0010500 Hyperextensibility of the knee HP:0010500 The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). https://orcid.org/0000-0002-0736-9199 An abnormal limitation of knee joint mobility. 2009-09-19T09:44:33Z HP:0005030 HP:0005192 UMLS:C4021259 Limitation of knee mobility Limited knee movement human_phenotype HP:0010501 The knee permits four types of movement: (i) Extension (straightening the lower leg); (ii) Flexion (bending the knee); (iii) Lateral rotation (turning outwards); and (iv) Medial rotation (turning inward) Limitation of knee mobility HP:0010501 An abnormal limitation of knee joint mobility. https://orcid.org/0000-0002-0736-9199 Limitation of knee mobility Limited knee movement A bending or abnormal curvature of the fibula. 2009-09-19T09:45:18Z UMLS:C4023801 Bowed calf bone human_phenotype HP:0010502 A developmental defect with posteromedial fibular angulation. Fibular bowing HP:0010502 A bending or abnormal curvature of the fibula. https://orcid.org/0000-0002-0736-9199 Bowed calf bone https://orcid.org/0000-0001-5208-3432 Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. 2009-09-19T09:45:58Z UMLS:C3276742 Duplicated calf bone human_phenotype HP:0010503 Fibular duplication HP:0010503 Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. https://orcid.org/0000-0002-0736-9199 Duplicated calf bone https://orcid.org/0000-0001-5208-3432 An abnormal increase in the length of the tibia. 2009-09-19T09:46:37Z UMLS:C4021864 Increased length of shankbone Increased length of shinbone human_phenotype HP:0010504 Increased length of the tibia HP:0010504 An abnormal increase in the length of the tibia. https://orcid.org/0000-0002-0736-9199 Increased length of shankbone https://orcid.org/0000-0001-5208-3432 Increased length of shinbone https://orcid.org/0000-0001-5208-3432 An abnormal limitation of the mobility of the ankle joint. 2009-09-19T09:47:11Z UMLS:C4023800 human_phenotype HP:0010505 Limitation of movement at ankles HP:0010505 An abnormal limitation of the mobility of the ankle joint. https://orcid.org/0000-0002-0736-9199 An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. 2009-09-19T09:47:44Z UMLS:C4021258 Abnormal dermatoglyphics on feet Abnormal prints on feet human_phenotype HP:0010506 Abnormal plantar dermatoglyphics HP:0010506 An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot. https://orcid.org/0000-0002-0736-9199 Abnormal prints on feet https://orcid.org/0000-0001-5208-3432 A difference in size or shape between the left and right foot. 2009-09-19T09:49:04Z UMLS:C4023799 human_phenotype HP:0010507 Foot asymmetry HP:0010507 A difference in size or shape between the left and right foot. https://orcid.org/0000-0002-0736-9199 A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. 2009-09-19T09:59:48Z UMLS:C4082144 human_phenotype HP:0010508 Metatarsus valgus HP:0010508 A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. https://orcid.org/0000-0002-0736-9199 Absence of the tarsal bones. 2009-09-19T10:05:13Z UMLS:C4021257 Absent ankle bone Absent tarsals human_phenotype HP:0010509 Aplasia of the tarsal bones HP:0010509 Absence of the tarsal bones. https://orcid.org/0000-0002-0736-9199 Absent ankle bone https://orcid.org/0000-0001-5208-3432 An ability of the toe joints to move beyond their normal range of motion. 2009-09-19T10:15:12Z UMLS:C4023798 human_phenotype HP:0010510 Hypermobility of toe joints HP:0010510 An ability of the toe joints to move beyond their normal range of motion. https://orcid.org/0000-0002-0736-9199 Toes that appear disproportionately long compared to the foot. 2009-09-19T10:40:43Z UMLS:C3150613 Increased length of toes Long toe Long toes human_phenotype HP:0010511 This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. Long toe HP:0010511 Toes that appear disproportionately long compared to the foot. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Increased length of toes Long toe Long toes Calcification within the adrenal glands. 2009-09-19T03:34:26Z SNOMEDCT_US:12286000 UMLS:C0271750 human_phenotype HP:0010512 This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. Adrenal calcification HP:0010512 Calcification within the adrenal glands. https://orcid.org/0000-0002-0736-9199 Deposition of calcium salts in the pituitary gland. 2009-09-19T04:09:21Z UMLS:C4023797 human_phenotype HP:0010513 Pituitary calcification HP:0010513 Deposition of calcium salts in the pituitary gland. https://orcid.org/0000-0002-0736-9199 Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. 2009-09-19T04:14:54Z SNOMEDCT_US:10649000 UMLS:C0020506 human_phenotype HP:0010514 Hyperpituitarism HP:0010514 Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. https://orcid.org/0000-0002-0736-9199 Absence or underdevelopment of the thymus. 2009-09-19T04:21:24Z UMLS:C3278004 UMLS:C4023796 Absent/small thymus Absent/underdeveloped thymus human_phenotype Thymic hypoplasia or aplasia HP:0010515 Aplasia/Hypoplasia of the thymus HP:0010515 Absence or underdevelopment of the thymus. https://orcid.org/0000-0002-0736-9199 Absent/small thymus https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped thymus https://orcid.org/0000-0001-5208-3432 Thymic hypoplasia or aplasia https://orcid.org/0000-0002-5316-1399 Enlargement of the thymus. 2009-09-19T04:23:10Z UMLS:C0040115 Enlarged thymus Thymic hyperplasia human_phenotype HP:0010516 Thymus hyperplasia HP:0010516 Enlargement of the thymus. https://orcid.org/0000-0002-0736-9199 Enlarged thymus The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. 2009-09-19T04:30:35Z UMLS:C4023795 Abnormal thymus position human_phenotype HP:0010517 Ectopic thymus tissue HP:0010517 The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. https://orcid.org/0000-0002-0736-9199 Abnormal thymus position https://orcid.org/0000-0001-5208-3432 An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. 2009-09-19T04:38:04Z SNOMEDCT_US:39462005 UMLS:C0040124 Thyroglossal duct cyst human_phenotype HP:0010518 A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. Thyroglossal cyst HP:0010518 An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. https://orcid.org/0000-0002-0736-9199 An abnormal increase in quantity or strength of fetal movements. 2009-09-20T10:44:15Z UMLS:C4021256 Fetal hyperkinesia Foetal hyperkinesia Increased foetal movement human_phenotype HP:0010519 Increased fetal movement HP:0010519 An abnormal increase in quantity or strength of fetal movements. https://orcid.org/0000-0002-0736-9199 Foetal hyperkinesia Increased foetal movement true HP:0010520 Gait apraxia affecting the ability to make walking movements with the legs. 2009-09-20T11:01:35Z SNOMEDCT_US:30767006 UMLS:C1510417 human_phenotype HP:0010521 Gait apraxia HP:0010521 Gait apraxia affecting the ability to make walking movements with the legs. https://orcid.org/0000-0002-0736-9199 A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). 2009-09-20T11:19:24Z HP:0006871 SNOMEDCT_US:52824009 SNOMEDCT_US:59770006 SNOMEDCT_US:9236007 UMLS:C0476254 Reading disability human_phenotype HP:0010522 Dyslexia HP:0010522 A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). https://orcid.org/0000-0002-0736-9199 Reading disability An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. 2009-09-20T11:27:07Z SNOMEDCT_US:9236007 UMLS:C0002018 Text blindness Word blindness human_phenotype HP:0010523 Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. Alexia HP:0010523 An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. https://orcid.org/0000-0002-0736-9199 Text blindness Word blindness Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences. 2009-09-20T11:33:03Z SNOMEDCT_US:42341009 UMLS:C0001816 Agnosia human_phenotype HP:0010524 Disturbed sensory perception HP:0010524 The examiner identified the inability to name, move, or touch specific fingers. 2009-09-20T11:37:33Z SNOMEDCT_US:3449007 UMLS:C0234509 human_phenotype HP:0010525 Finger agnosia HP:0010525 A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. 2009-09-20T11:40:43Z SNOMEDCT_US:88278002 UMLS:C0234144 human_phenotype Agraphia HP:0010526 Dysgraphia HP:0010526 A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. https://orcid.org/0000-0002-0736-9199 Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition. 2009-09-20T11:41:58Z SNOMEDCT_US:25094008 UMLS:C0234505 Astereognosis Somatosensory agnosia human_phenotype HP:0010527 Astereognosis HP:0010527 Inability to recognize faces of familiar persons. 2009-09-20T11:45:49Z SNOMEDCT_US:18358003 UMLS:C0234512 Face blindness Facial agnosia human_phenotype HP:0010528 Prosopagnosia HP:0010528 Face blindness Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. 2009-09-20T08:17:27Z SNOMEDCT_US:64712007 UMLS:C0013528 UMLS:C4280380 Echoing another person's speech Echologia Echophrasia Repeated speech human_phenotype HP:0010529 Echolalia HP:0010529 Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. PMID:31651053 Echoing another person's speech https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-6548-5200 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Echologia https://orcid.org/0000-0001-6908-9849 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Echophrasia https://orcid.org/0000-0001-6908-9849 https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Repeated speech https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral. 2009-09-20T08:50:17Z SNOMEDCT_US:9366002 UMLS:C0030214 Palatal myoclonus human_phenotype HP:0010530 Previously, PT was known as palatal myoclonus but it was subsequently renamed palatal tremor during the First International Congress of Movement Disorders to acknowledge the continuous and rhythmic nature of the palatal movement. Palatal tremors do not oscillate around a point, unlike any other type of tremor. Palatal tremors can have huge variability in frequency, unlike other commonly-described tremors. Palatal tremor HP:0010530 Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral. PMID:33101766 https://orcid.org/0000-0002-0736-9199 Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. 2009-09-20T08:53:39Z SNOMEDCT_US:698836007 UMLS:C3697670 human_phenotype HP:0010531 Spinal myoclonus HP:0010531 Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. https://orcid.org/0000-0002-0736-9199 Paroxysmal episodes of vertigo. 2009-09-20T09:12:15Z SNOMEDCT_US:103290003 UMLS:C0522357 human_phenotype HP:0010532 Paroxysmal vertigo HP:0010532 Paroxysmal episodes of vertigo. https://orcid.org/0000-0002-0736-9199 The combination of pendular nystagmus, head nodding, and torticollis. 2009-09-20T09:19:57Z SNOMEDCT_US:18191000 UMLS:C0546878 human_phenotype HP:0010533 Spasmus nutans HP:0010533 The combination of pendular nystagmus, head nodding, and torticollis. PMID:7499100 https://orcid.org/0000-0002-0736-9199 A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. 2009-09-20T09:33:50Z SNOMEDCT_US:230736007 UMLS:C0338591 human_phenotype HP:0010534 Transient global amnesia HP:0010534 A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. https://orcid.org/0000-0002-0736-9199 An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. 2009-09-21T08:53:35Z SNOMEDCT_US:73430006 UMLS:C0037315 Pauses in breathing while sleeping Sleep apnea Sleep apnoea human_phenotype HP:0010535 Sleep apnea HP:0010535 Pauses in breathing while sleeping https://orcid.org/0000-0002-6548-5200 Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. 2009-09-21T08:57:02Z UMLS:C0520680 Central sleep apnoea human_phenotype HP:0010536 Central sleep apnea HP:0010536 Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. PMID:35551411 PMID:36031317 An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). 2009-09-21T09:50:28Z SNOMEDCT_US:268855009 UMLS:C0410935 Broad cranial sutures Diastasis of cranial sutures Large cranial suture Persistent open cranial sutures Sutural diastasis Widened cranial sutures open cranial sutures human_phenotype HP:0010537 Wide cranial sutures HP:0010537 An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). https://orcid.org/0000-0002-0736-9199 Broad cranial sutures https://orcid.org/0000-0001-5889-4463 Large cranial suture https://orcid.org/0000-0001-5889-4463 Persistent open cranial sutures https://orcid.org/0000-0001-5889-4463 An abnormally small sella turcica. 2009-09-21T10:19:05Z UMLS:C4023794 UMLS:C4072875 UMLS:C4072876 Hypoplasia of sella turcica Hypoplasia of hypophseal fossa Hypoplasia of pituitary fossa Small hypophyseal fossa Small pituitary fossa human_phenotype HP:0010538 Small sella turcica HP:0010538 An abnormally small sella turcica. https://orcid.org/0000-0002-0736-9199 Hypoplasia of sella turcica https://orcid.org/0000-0001-5889-4463 Hypoplasia of hypophseal fossa https://orcid.org/0000-0001-5889-4463 Hypoplasia of pituitary fossa https://orcid.org/0000-0001-5889-4463 Small hypophyseal fossa https://orcid.org/0000-0001-5889-4463 Small pituitary fossa https://orcid.org/0000-0001-5889-4463 The presence of an abnormally thin calvarium. 2009-09-21T10:21:29Z Thin skull bone UMLS:C1856231 UMLS:C4280379 Thin cranial bone human_phenotype HP:0010539 Thin calvarium HP:0010539 The presence of an abnormally thin calvarium. https://orcid.org/0000-0002-0736-9199 Thin skull bone https://orcid.org/0000-0001-5889-4463 Thin cranial bone https://orcid.org/0000-0001-5889-4463 A degree of pneumatization that is increased compared to age-related norms. 2009-09-23T10:04:21Z UMLS:C4023793 human_phenotype HP:0010540 Advanced pneumatization of cranial sinuses HP:0010540 A degree of pneumatization that is increased compared to age-related norms. https://orcid.org/0000-0002-0736-9199 The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. 2009-09-23T10:15:33Z Scalp folds Scalp furrows SNOMEDCT_US:51603000 UMLS:C0263417 UMLS:C4072877 UMLS:C4280378 Cutis verticis gyrata Furrows in thickened skin on top of scalp Scalp rugae Thickened folds on top of scalp human_phenotype Thickening of the scalp HP:0010541 Cutis gyrata of scalp HP:0010541 The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. https://orcid.org/0000-0002-0736-9199 Scalp folds https://orcid.org/0000-0001-5889-4463 Scalp furrows https://orcid.org/0000-0001-5889-4463 Furrows in thickened skin on top of scalp https://orcid.org/0000-0001-5889-4463 Thickened folds on top of scalp https://orcid.org/0000-0001-5889-4463 Thickening of the scalp https://orcid.org/0000-0001-5889-4463 Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. 2009-09-23T10:38:28Z SNOMEDCT_US:46888001 UMLS:C0155379 human_phenotype HP:0010542 Vestibular nystagmus HP:0010542 Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. https://orcid.org/0000-0002-0736-9199 Bursts of large-amplitude multidirectional saccades without intersaccadic interval 2009-09-23T10:40:51Z SNOMEDCT_US:194177006 UMLS:C0242567 human_phenotype HP:0010543 Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude. Opsoclonus HP:0010543 Bursts of large-amplitude multidirectional saccades without intersaccadic interval https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. 2009-09-23T10:45:18Z SNOMEDCT_US:111533001 UMLS:C0271386 human_phenotype HP:0010544 Vertical nystagmus HP:0010544 Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. https://orcid.org/0000-0002-0736-9199 Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. 2009-09-23T10:47:44Z SNOMEDCT_US:307676006 UMLS:C0585544 human_phenotype HP:0010545 Downbeat nystagmus HP:0010545 Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. PMID:21505601 https://orcid.org/0000-0002-0736-9199 Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. 2009-09-29T08:23:48Z SNOMEDCT_US:41405005 UMLS:C0231531 EMG: fibrillations on electromyogram human_phenotype Twitching HP:0010546 Muscle fibrillation HP:0010546 Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. https://orcid.org/0000-0002-0736-9199 Twitching A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. 2009-09-29T09:21:45Z SNOMEDCT_US:186611004 SNOMEDCT_US:397488002 UMLS:C0026825 human_phenotype HP:0010547 Muscle flaccidity HP:0010547 A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. https://orcid.org/0000-0002-0736-9199 A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). 2009-10-01T08:15:50Z HP:0004304 UMLS:C0751359 Transient swelling of muscle induced by percussion human_phenotype HP:0010548 Percussion myotonia HP:0010548 A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). https://orcid.org/0000-0002-0736-9199 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. 2009-10-01T08:30:25Z UMLS:C4021255 Paralysis due to lesions of the principle motor tracts human_phenotype HP:0010549 Weakness due to upper motor neuron dysfunction HP:0010549 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. https://orcid.org/0000-0002-0736-9199 Severe or complete weakness of both lower extremities with sparing of the upper extremities. 2009-10-01T08:32:57Z SNOMEDCT_US:60389000 UMLS:C0030486 Leg paralysis human_phenotype HP:0010550 Paraplegia HP:0010550 Severe or complete weakness of both lower extremities with sparing of the upper extremities. https://orcid.org/0000-0002-0736-9199 Leg paralysis https://orcid.org/0000-0001-5208-3432 Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. 2009-10-01T08:36:05Z UMLS:C4023792 human_phenotype HP:0010551 Paraplegia/paraparesis HP:0010551 Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. https://orcid.org/0000-0002-0736-9199 true HP:0010552 An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. 2009-10-01T08:56:39Z SNOMEDCT_US:5332004 UMLS:C0085637 human_phenotype HP:0010553 Oculogyric crisis HP:0010553 An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. https://orcid.org/0000-0002-0736-9199 A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. 2009-10-07T10:59:57Z HP:0001214 HP:0005637 HP:0006054 HP:0006220 UMLS:C4021254 Cutaneous syndactyly of fingers Cutaneous syndactyly of hands Webbed fingers Webbed skin of fingers human_phenotype HP:0010554 We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. Cutaneous finger syndactyly HP:0010554 A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. PMID:19125433 Webbed fingers PMID:16200145 Webbed skin of fingers https://orcid.org/0000-0001-5208-3432 true HP:0010555 true HP:0010556 A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. 2009-10-13T09:21:52Z UMLS:C1446712 human_phenotype HP:0010557 Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. Overlapping fingers HP:0010557 A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. PMID:19125433 https://orcid.org/0000-0002-0736-9199 An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. 2009-10-14T09:37:19Z UMLS:C4023791 human_phenotype HP:0010558 Abnormality of the clivus HP:0010558 An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. https://orcid.org/0000-0002-0736-9199 An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). 2009-10-14T09:39:04Z UMLS:C1844702 human_phenotype HP:0010559 Vertical clivus HP:0010559 An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). https://orcid.org/0000-0002-0736-9199 An abnormally wavy surface or edge of the clavicles. 2009-10-14T09:52:46Z UMLS:C4021253 Undulate clavicles Wavy clavicles Wavy collarbone human_phenotype HP:0010560 Undulate clavicle HP:0010560 An abnormally wavy surface or edge of the clavicles. https://orcid.org/0000-0002-0736-9199 Wavy clavicles Wavy collarbone https://orcid.org/0000-0001-5208-3432 An abnormally wavy surface or edge of the ribs. 2009-10-14T09:56:07Z UMLS:C1969185 Wavy ribs human_phenotype HP:0010561 Undulate ribs HP:0010561 An abnormally wavy surface or edge of the ribs. https://orcid.org/0000-0002-0736-9199 Wavy ribs 2009-10-15T07:39:56Z MEDDRA:10023330 SNOMEDCT_US:33659008 SNOMEDCT_US:58405006 UMLS:C0022548 human_phenotype HP:0010562 Keloids HP:0010562 MEDDRA:10023330 Keloid scar true HP:0010563 A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. 2009-10-16T02:20:48Z SNOMEDCT_US:232412004 UMLS:C0339864 human_phenotype HP:0010564 Bifid epiglottis HP:0010564 A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. https://orcid.org/0000-0002-0736-9199 This term applies if the Epiglottis is absent or hypoplastic. 2009-10-16T02:27:31Z UMLS:C4023790 human_phenotype HP:0010565 Aplasia/Hypoplasia of the Epiglottis HP:0010565 This term applies if the Epiglottis is absent or hypoplastic. https://orcid.org/0000-0002-0736-9199 A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. 2009-10-16T02:51:16Z SNOMEDCT_US:400006008 SNOMEDCT_US:51398009 UMLS:C0018552 human_phenotype HP:0010566 Hamartoma HP:0010566 A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. https://orcid.org/0000-0002-0736-9199 Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. 2009-10-16T06:50:11Z UMLS:C4023789 Y-shaped long bone of foot human_phenotype HP:0010567 Y-shaped metatarsals HP:0010567 Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly. https://orcid.org/0000-0002-0736-9199 Y-shaped long bone of foot https://orcid.org/0000-0001-5208-3432 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. 2009-10-17T12:57:24Z UMLS:C4023788 human_phenotype HP:0010568 Hamartoma of the eye HP:0010568 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye. https://orcid.org/0000-0002-0736-9199 Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal. 2009-10-19T08:49:58Z UMLS:C1849185 Elevated levels of cholesta-5,7-dien-3beta-ol human_phenotype HP:0010569 Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. Elevated circulating 7-dehydrocholesterol concentration HP:0010569 Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. 2009-10-20T07:01:24Z UMLS:C4023787 Low maternal serum alpha-fetoprotein human_phenotype HP:0010570 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. Low maternal circulating alpha-fetoprotein concentration HP:0010570 An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. https://orcid.org/0000-0002-0736-9199 Low maternal serum alpha-fetoprotein An abnormal elevation of phytanic acid. 2009-10-20T07:19:29Z UMLS:C4023786 Elevated level of phytanic acid Elevated levels of phytanic acid human_phenotype HP:0010571 Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. Elevated circulating phytanic acid concentration HP:0010571 An abnormal elevation of phytanic acid. https://orcid.org/0000-0002-0736-9199 Elevated levels of phytanic acid true HP:0010572 true HP:0010573 Any abnormality of the proximal epiphysis of the femur. 2009-10-21T01:28:23Z HP:0010589 UMLS:C4021252 Abnormality of the end part of the innermost thighbone Abnormality of the proximal femoral epiphysis human_phenotype HP:0010574 Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. Abnormality of the epiphysis of the femoral head HP:0010574 Any abnormality of the proximal epiphysis of the femur. https://orcid.org/0009-0006-4530-3154 Abnormality of the end part of the innermost thighbone https://orcid.org/0000-0001-5208-3432 The presence of developmental dysplasia of the femoral head. 2009-10-21T01:30:40Z Abnormality of femoral head development UMLS:C4021251 UMLS:C4280377 Dysplastic femoral head human_phenotype HP:0010575 Dysplasia of the femoral head HP:0010575 The presence of developmental dysplasia of the femoral head. https://orcid.org/0000-0002-0736-9199 Abnormality of femoral head development https://orcid.org/0000-0001-5208-3432 A cystic lesion originating within the brain. 2009-10-22T01:38:49Z UMLS:C4021250 Cerebral cystic malformation human_phenotype HP:0010576 Intracranial cystic lesion HP:0010576 A cystic lesion originating within the brain. https://orcid.org/0000-0002-0736-9199 2009-10-22T02:53:19Z UMLS:C4021862 Absent end part of bone human_phenotype HP:0010577 Absent epiphyses HP:0010577 Absent end part of bone https://orcid.org/0000-0001-5208-3432 2009-10-22T02:53:19Z UMLS:C4023785 Bracket shaped end part of long bone human_phenotype HP:0010578 Bracket epiphyses HP:0010578 Bracket shaped end part of long bone https://orcid.org/0000-0001-5208-3432 Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. 2009-10-22T02:53:19Z HP:0000937 HP:0006078 UMLS:C1865037 Cone-shaped end part of bone Cone-shaped epiphyses Coned epiphyses human_phenotype HP:0010579 Cone-shaped epiphysis HP:0010579 Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. https://orcid.org/0000-0002-0736-9199 Cone-shaped end part of bone https://orcid.org/0000-0001-5208-3432 Increased size of epiphyses. 2009-10-22T02:53:19Z HP:0003018 HP:0003055 HP:0005082 UMLS:C1833328 Large end part of bone Large epiphyses Widened, distorted epiphyses human_phenotype HP:0010580 Enlarged epiphyses HP:0010580 Increased size of epiphyses. https://orcid.org/0000-0002-0736-9199 Large end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0010581 An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. 2009-10-22T02:53:19Z HP:0002765 HP:0003039 HP:0005007 HP:0005023 HP:0005749 HP:0010581 UMLS:C1846449 Irregular end part of long bone human_phenotype HP:0010582 Irregular epiphyses HP:0010582 An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. https://orcid.org/0000-0002-0736-9199 Irregular end part of long bone https://orcid.org/0000-0001-5208-3432 Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. 2009-10-22T02:53:19Z UMLS:C1856911 Epiphyseal sclerosis Increased bone density in end part of bone human_phenotype HP:0010583 Ivory epiphyses HP:0010583 Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. https://orcid.org/0009-0006-4530-3154 Increased bone density in end part of bone https://orcid.org/0000-0001-5208-3432 2009-10-22T02:53:19Z UMLS:C1841685 human_phenotype HP:0010584 Pseudoepiphyses HP:0010584 Reduction in the size or volume of epiphyses. 2009-10-22T02:53:19Z HP:0005730 UMLS:C1846803 Small end part of bone human_phenotype HP:0010585 Small epiphyses HP:0010585 Reduction in the size or volume of epiphyses. https://orcid.org/0000-0002-0736-9199 Small end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0010586 Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus. 2009-10-22T02:53:19Z UMLS:C4023784 Longitudinal epiphyseal bracket Triangular end part of bone Triangular epiphyses human_phenotype HP:0010587 Triangular epiphysis HP:0010587 Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus. PMID:24432108 Triangular end part of bone https://orcid.org/0000-0001-5208-3432 Triangular epiphyses Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2009-10-22T02:53:19Z SNOMEDCT_US:89493005 UMLS:C0151628 Premature closure of epiphyses human_phenotype HP:0010588 The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. Premature epimetaphyseal fusion HP:0010588 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. PMID:12624140 https://orcid.org/0000-0002-0736-9199 true HP:0010589 Any abnormality of the distal epiphysis of the femur. 2009-10-22T03:00:23Z UMLS:C4023783 Abnormality of the end part of the outermost thighbone human_phenotype HP:0010590 Abnormality of the distal femoral epiphysis HP:0010590 Any abnormality of the distal epiphysis of the femur. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the outermost thighbone https://orcid.org/0000-0001-5208-3432 Any abnormality of the proximal epiphysis of the tibia. 2009-10-22T03:03:04Z UMLS:C4023782 Abnormality of the end part of innermost shankbone Abnormality of the end part of innermost shinbone human_phenotype HP:0010591 Abnormality of the proximal tibial epiphysis HP:0010591 Any abnormality of the proximal epiphysis of the tibia. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of innermost shankbone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of innermost shinbone https://orcid.org/0000-0001-5208-3432 2009-10-22T03:03:04Z UMLS:C4023781 Abnormality of the end part of outermost shankbone Abnormality of the end part of outermost shinbone human_phenotype HP:0010592 Abnormality of the distal tibial epiphysis HP:0010592 Abnormality of the end part of outermost shankbone https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of outermost shinbone https://orcid.org/0000-0001-5208-3432 2009-10-22T03:03:34Z UMLS:C4023780 Abnormality of fibular epiphyses Abnormality of the end part of the calf bone human_phenotype HP:0010593 Abnormal fibular epiphysis morphology HP:0010593 Abnormality of the end part of the calf bone https://orcid.org/0000-0001-5208-3432 Any abnormality of the proximal epiphysis of the fibula. 2009-10-22T03:04:39Z UMLS:C4023779 Abnormality of the innermost end part of calf bone human_phenotype HP:0010594 Abnormality of the proximal fibular epiphysis HP:0010594 Any abnormality of the proximal epiphysis of the fibula. https://orcid.org/0000-0002-0736-9199 Abnormality of the innermost end part of calf bone https://orcid.org/0000-0001-5208-3432 Any abnormality of the distal epiphysis of the fibula. 2009-10-22T03:04:39Z UMLS:C4023778 Abnormality of the outermost end part of calf bone human_phenotype HP:0010595 Abnormality of the distal fibular epiphysis HP:0010595 Any abnormality of the distal epiphysis of the fibula. https://orcid.org/0000-0002-0736-9199 Abnormality of the outermost end part of calf bone https://orcid.org/0000-0001-5208-3432 Any abnormality of the proximal epiphysis of the radius. 2009-10-22T03:06:29Z UMLS:C4023777 Abnormality of the proximal radial epiphysis human_phenotype HP:0010596 Abnormal proximal radial epiphysis morphology HP:0010596 Any abnormality of the proximal epiphysis of the radius. https://orcid.org/0000-0002-0736-9199 Any abnormality of the distal epiphysis of the radius. 2009-10-22T03:06:29Z UMLS:C4023776 human_phenotype HP:0010597 Abnormality of the distal radial epiphysis HP:0010597 Any abnormality of the distal epiphysis of the radius. https://orcid.org/0000-0002-0736-9199 Any abnormality of the proximal epiphysis of the humerus. 2009-10-22T06:40:29Z UMLS:C4023775 Abnormality of the end part of the innermost long bone in upper arm human_phenotype HP:0010598 Abnormality of the proximal humeral epiphysis HP:0010598 Any abnormality of the proximal epiphysis of the humerus. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the innermost long bone in upper arm https://orcid.org/0000-0001-5208-3432 Any abnormality of the distal epiphysis of the humerus. 2009-10-22T06:40:29Z UMLS:C4023774 Abnormality of the distal humeral epiphysis Abnormality of the end part of the outermost long bone in upper arm human_phenotype HP:0010599 Abnormal distal humeral epiphysis morphology HP:0010599 Any abnormality of the distal epiphysis of the humerus. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the outermost long bone in upper arm https://orcid.org/0000-0001-5208-3432 Any abnormality of the distal epiphysis of the ulna. 2009-10-22T06:41:21Z UMLS:C4023773 Abnormality of the distal ulnar epiphysis human_phenotype HP:0010600 Abnormal distal ulnar epiphysis morphology HP:0010600 Any abnormality of the distal epiphysis of the ulna. https://orcid.org/0000-0002-0736-9199 Any abnormality of the proximal epiphysis of the ulna. 2009-10-22T06:41:21Z UMLS:C4023772 Abnormality of the proximal ulnar epiphysis human_phenotype HP:0010601 Abnormal proximal ulnar epiphysis morphology HP:0010601 Any abnormality of the proximal epiphysis of the ulna. https://orcid.org/0000-0002-0736-9199 An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). 2009-10-25T09:56:24Z UMLS:C3277187 Type 2 muscle fibre predominance Type II muscle fiber predominance Type II muscle fibre predominance human_phenotype HP:0010602 Type 2 muscle fiber predominance HP:0010602 An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). https://orcid.org/0000-0002-0736-9199 Type 2 muscle fibre predominance Type II muscle fibre predominance A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. 2009-10-27T02:26:31Z UMLS:C1708604 Keratocystic odontogenic tumor Keratocystic odontogenic tumour Keratocysts of the jaw human_phenotype HP:0010603 Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. Odontogenic keratocysts of the jaw HP:0010603 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior. PMID:18353202 https://orcid.org/0000-0002-0736-9199 Keratocystic odontogenic tumour Keratocysts of the jaw https://orcid.org/0000-0002-5316-1399 2009-10-27T10:57:50Z Lesion of the eyelid SNOMEDCT_US:248514008 SNOMEDCT_US:301913002 SNOMEDCT_US:46210008 UMLS:C0155218 UMLS:C0424844 UMLS:C0578590 Cyst of the eyelid Eyelid bump Eyelid mass human_phenotype HP:0010604 Cyst of the eyelid HP:0010604 Lesion of the eyelid https://orcid.org/0000-0001-5889-4463 Cyst of the eyelid Eyelid bump https://orcid.org/0000-0001-5889-4463 Eyelid mass https://orcid.org/0000-0001-5889-4463 A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. 2009-10-27T10:58:24Z SNOMEDCT_US:1482004 UMLS:C0007933 Meibomian gland lipogranuloma human_phenotype HP:0010605 Chalazion HP:0010605 A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes. https://orcid.org/0000-0002-0736-9199 Meibomian gland lipogranuloma https://orcid.org/0000-0002-0736-9199 An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. 2009-10-27T11:01:13Z SNOMEDCT_US:1489008 SNOMEDCT_US:397513003 UMLS:C0019917 UMLS:C4280376 Stye of eyelid human_phenotype Red bump on eyelid HP:0010606 Hordeolum HP:0010606 An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. https://orcid.org/0009-0006-4530-3154 Stye of eyelid https://orcid.org/0000-0001-5889-4463 Red bump on eyelid https://orcid.org/0000-0001-5889-4463 Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. 2009-10-27T11:33:07Z SNOMEDCT_US:1489008 UMLS:C0019919 human_phenotype HP:0010607 Hordeolum externum HP:0010607 Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling. https://orcid.org/0000-0002-0736-9199 Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. 2009-10-27T11:33:25Z SNOMEDCT_US:414521009 UMLS:C0085690 UMLS:C4280375 Stye of inner eyelid human_phenotype Red bump on inner eyelid HP:0010608 Hordeolum internum HP:0010608 Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling. https://orcid.org/0000-0002-0736-9199 Stye of inner eyelid https://orcid.org/0000-0001-5889-4463 Red bump on inner eyelid https://orcid.org/0000-0001-5889-4463 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. 2009-10-27T11:41:03Z SNOMEDCT_US:201091002 SNOMEDCT_US:31069005 SNOMEDCT_US:80801001 UMLS:C0037293 Acrochorda human_phenotype HP:0010609 Skin tags HP:0010609 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. https://orcid.org/0009-0006-4530-3154 2009-10-28T01:23:05Z SNOMEDCT_US:247449001 UMLS:C0423776 human_phenotype HP:0010610 Palmar pits HP:0010610 true HP:0010611 The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. 2009-10-28T01:25:57Z UMLS:C1852301 human_phenotype HP:0010612 Plantar pits HP:0010612 The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. https://orcid.org/0000-0002-0736-9199 true HP:0010613 Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. 2009-10-28T05:52:39Z NCIT:C3041 SNOMEDCT_US:112682009 SNOMEDCT_US:424568000 UMLS:C0016045 human_phenotype HP:0010614 Fibroma HP:0010614 Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. https://orcid.org/0000-0002-0736-9199 Angiofibroma consist of many often dilated vessels. 2009-10-28T06:00:14Z NCIT:C3799 SNOMEDCT_US:302857002 SNOMEDCT_US:60392001 UMLS:C0206731 human_phenotype HP:0010615 Angiofibromas HP:0010615 Angiofibroma consist of many often dilated vessels. https://orcid.org/0000-0002-0736-9199 The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. 2009-10-28T06:04:01Z NCIT:C3041 SNOMEDCT_US:707387004 UMLS:C1334444 human_phenotype HP:0010616 Lung fibroma HP:0010616 The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule. https://orcid.org/0000-0002-0736-9199 A fibroma of the heart. 2009-10-28T06:13:11Z NCIT:C3041 UMLS:C1096654 human_phenotype HP:0010617 Cardiac fibroma HP:0010617 A fibroma of the heart. https://orcid.org/0000-0002-0736-9199 The presence of a fibroma of the ovary. 2009-10-28T06:13:11Z NCIT:C3041 SNOMEDCT_US:254865006 UMLS:C0149951 human_phenotype HP:0010618 Ovarian fibromas belong to the sex cord-stromal tumor group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. Ovarian fibroma HP:0010618 The presence of a fibroma of the ovary. https://orcid.org/0000-0002-0736-9199 A benign biphasic tumor of the breast with epithelial and stromal components. 2009-10-28T06:13:11Z NCIT:C3744 SNOMEDCT_US:254845004 UMLS:C0178421 Breast fibroadenoma Breast fibroadenomas Breast fibroadenosis Fibroadenosis - breast Fibroadenosis of breast human_phenotype HP:0010619 A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. Fibroadenoma of the breast HP:0010619 A benign biphasic tumor of the breast with epithelial and stromal components. PMID:23396888 https://orcid.org/0000-0002-0736-9199 Breast fibroadenomas https://orcid.org/0000-0002-5316-1399 Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. 2009-11-02T07:53:02Z HP:0000310 UMLS:C1858732 UMLS:C4280374 Malar excess Malar hyperplasia Prominent malar region Hyperplasia of malar bones human_phenotype HP:0010620 Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. Malar prominence HP:0010620 Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. https://orcid.org/0000-0002-9602-2321 Hyperplasia of malar bones https://orcid.org/0000-0001-5889-4463 A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. 2009-11-18T10:32:21Z HP:0001990 HP:0004707 HP:0010555 UMLS:C1834737 Cutaneous syndactyly of feet Webbed skin of toes soft tissue syndactyly of toes human_phenotype HP:0010621 Cutaneous syndactyly of toes HP:0010621 A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Webbed skin of toes https://orcid.org/0000-0001-5208-3432 A tumor (abnormal growth of tissue) of the skeleton. 2010-06-25T08:54:46Z NCIT:C3262 SNOMEDCT_US:442868003 UMLS:C2732838 UMLS:C4020771 Skeletal tumor Skeletal tumour Neoplasia of the skeletal system human_phenotype Bone neoplasm HP:0010622 Neoplasm of the skeletal system HP:0010622 A tumor (abnormal growth of tissue) of the skeleton. https://orcid.org/0000-0002-0736-9199 Skeletal tumor https://orcid.org/0000-0001-5208-3432 Skeletal tumour true HP:0010623 Absence or underdevelopment of the toenail. 2009-11-20T05:55:11Z HP:0008381 HP:0008389 UMLS:C1856749 Absent/small toenails Absent/underdeveloped toenails Aplastic/hypoplastic toenails Hypoplastic-absent toenails human_phenotype HP:0010624 Aplastic/hypoplastic toenail HP:0010624 Absence or underdevelopment of the toenail. https://orcid.org/0000-0002-0736-9199 Absent/small toenails https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped toenails https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. 2009-12-05T03:03:17Z SNOMEDCT_US:62818001 UMLS:C0032008 UMLS:C4023771 Adenohypophysis human_phenotype HP:0010625 Anterior pituitary dysgenesis HP:0010625 Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Adenohypophysis https://orcid.org/0000-0001-5208-3432 Absence of the anterior pituitary gland resulting from a developmental defect. 2009-12-05T03:04:20Z UMLS:C4021249 Absent pituitary gland Aplasia of the pituitary gland human_phenotype HP:0010626 Anterior pituitary agenesis HP:0010626 Absence of the anterior pituitary gland resulting from a developmental defect. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-5316-1399 Absent pituitary gland https://orcid.org/0000-0001-5208-3432 Underdevelopment of the anterior pituitary gland. 2009-12-05T03:04:48Z HP:0008238 UMLS:C0948740 UMLS:C1859775 Small anterior pituitary lobe Underdeveloped pituitary gland human_phenotype Hypoplasia of the pituitary gland HP:0010627 Anterior pituitary hypoplasia HP:0010627 Underdevelopment of the anterior pituitary gland. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Underdeveloped pituitary gland https://orcid.org/0000-0001-5208-3432 Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. 2009-12-06T05:08:30Z HP:0000296 HP:0000302 HP:0000344 HP:0000353 HP:0002008 HP:0002259 HP:0002517 HP:0004670 HP:0007212 HP:0200004 SNOMEDCT_US:193093009 SNOMEDCT_US:95666008 UMLS:C0376175 UMLS:C0427055 UMLS:C1858719 Bell's palsy Cranial nerve VII palsy Facial nerve palsy Facial nerve paralysis Facial palsy, unilateral or bilateral Seventh cranial nerve palsy VII th cranial nerve palsy human_phenotype Facial muscle weakness of muscles innervated by CN VII HP:0010628 Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. Facial palsy HP:0010628 Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. https://orcid.org/0009-0006-4530-3154 Bell's palsy Any abnormality affecting the cortex of the humerus. 2009-12-06T05:45:26Z UMLS:C4023770 human_phenotype HP:0010629 Abnormal morphology of the cortex of the humerus HP:0010629 Any abnormality affecting the cortex of the humerus. https://orcid.org/0000-0002-0736-9199 Any abnormality of a metatarsal bone epiphysis. 2009-12-06T05:58:36Z UMLS:C4021248 Abnormality of end part of long bone of foot Abnormality of metatarsal epiphysis Abnormality of the epiphyses of the metatarsals human_phenotype HP:0010630 Abnormal metatarsal epiphysis morphology HP:0010630 Any abnormality of a metatarsal bone epiphysis. https://orcid.org/0000-0002-0736-9199 Abnormality of end part of long bone of foot https://orcid.org/0000-0001-5208-3432 Any abnormality of the epiphyses of the feet. 2009-12-06T06:00:04Z UMLS:C4023769 Abnormality of the end part of the foot bone human_phenotype HP:0010631 Abnormality of the epiphyses of the feet HP:0010631 Any abnormality of the epiphyses of the feet. https://orcid.org/0000-0002-0736-9199 Abnormality of the end part of the foot bone https://orcid.org/0000-0001-5208-3432 Inability to detect any qualitative olfactory sensation. 2009-12-06T07:51:50Z UMLS:C4023768 human_phenotype HP:0010632 Total anosmia HP:0010632 Inability to detect any qualitative olfactory sensation. https://orcid.org/0000-0002-0736-9199 Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). 2009-12-06T07:52:37Z UMLS:C4023767 human_phenotype HP:0010633 Partial anosmia HP:0010633 Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). https://orcid.org/0000-0002-0736-9199 Reduced ability to detect any qualitative olfactory sensation. 2009-12-06T07:54:13Z UMLS:C4023766 human_phenotype HP:0010634 Total hyposmia HP:0010634 Reduced ability to detect any qualitative olfactory sensation. https://orcid.org/0000-0002-0736-9199 Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). 2009-12-06T07:54:13Z UMLS:C4023765 human_phenotype HP:0010635 Partial hyposmia HP:0010635 Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). https://orcid.org/0000-0002-0736-9199 The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. 2009-12-06T08:05:54Z SNOMEDCT_US:253159001 SNOMEDCT_US:38353004 UMLS:C0266484 human_phenotype HP:0010636 Schizencephaly HP:0010636 The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. https://orcid.org/0000-0002-0736-9199 A form of amyloidosis that affects the conjunctiva. 2009-12-07T03:20:51Z SNOMEDCT_US:59017008 UMLS:C0268402 human_phenotype HP:0010637 The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. Conjunctival amyloidosis HP:0010637 A form of amyloidosis that affects the conjunctiva. https://orcid.org/0000-0002-0736-9199 An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2009-12-11T03:47:19Z UMLS:C4023764 Elevated ALP of hepatic origin human_phenotype HP:0010638 Elevated alkaline phosphatase of hepatic origin HP:0010638 An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. https://orcid.org/0000-0002-0736-9199 Elevated ALP of hepatic origin An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2009-12-11T03:47:19Z HP:0008266 UMLS:C1833667 Elevated ALP of bone origin Elevated alkaline phosphatase of bone origin Increased serum bone-specific alkaline phosphatase human_phenotype HP:0010639 Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. Elevated alkaline phosphatase of bone origin HP:0010639 An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. https://orcid.org/0000-0002-0736-9199 Elevated ALP of bone origin Elevated alkaline phosphatase of bone origin Increased serum bone-specific alkaline phosphatase Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). 2009-12-17T04:56:17Z UMLS:C4023763 Abnormality of the nasal cavity human_phenotype HP:0010640 Abnormal nasal cavity morphology HP:0010640 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). https://orcid.org/0000-0002-0736-9199 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. 2009-12-17T04:58:21Z UMLS:C4021861 human_phenotype HP:0010641 Abnormality of the midnasal cavity HP:0010641 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae. https://orcid.org/0000-0002-0736-9199 true HP:0010642 Absence or abnormal closure of the midnasal cavity. 2009-12-17T05:06:01Z UMLS:C4023762 human_phenotype HP:0010643 Midnasal atresia HP:0010643 Absence or abnormal closure of the midnasal cavity. https://orcid.org/0000-0002-0736-9199 Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. 2009-12-17T05:06:01Z HP:0010642 UMLS:C1840238 Midnasal atresia or stenosis human_phenotype HP:0010644 Midnasal stenosis HP:0010644 Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. https://orcid.org/0000-0002-0736-9199 Absence of the distal phalanges of the toes. 2010-02-17T02:41:47Z UMLS:C4023761 Absent outermost bone of the toes human_phenotype HP:0010645 Aplasia of the distal phalanges of the toes HP:0010645 Absence of the distal phalanges of the toes. https://orcid.org/0000-0002-0736-9199 Absent outermost bone of the toes https://orcid.org/0000-0001-5208-3432 An abnormal lack of stability of the cervical spine. 2010-02-23T11:15:32Z SNOMEDCT_US:202821008 UMLS:C0410652 human_phenotype HP:0010646 The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. Cervical spine instability HP:0010646 An abnormal lack of stability of the cervical spine. https://orcid.org/0000-0002-0736-9199 Any abnormal increase or reduction in skin elasticity. 2010-02-23T11:42:34Z UMLS:C4023760 human_phenotype HP:0010647 Abnormal elasticity of skin HP:0010647 Any abnormal increase or reduction in skin elasticity. https://orcid.org/0000-0003-1773-4011 An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. 2010-02-23T11:50:37Z UMLS:C1836646 Translucent skin human_phenotype HP:0010648 Dermal translucency HP:0010648 An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. https://orcid.org/0000-0002-0736-9199 An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). 2010-02-25T10:01:47Z UMLS:C4023759 Depressed nasal alae Flat nasal alar cartilage human_phenotype HP:0010649 Flat nasal alae HP:0010649 An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). https://orcid.org/0000-0002-0736-9199 Depressed nasal alae https://orcid.org/0000-0001-5889-4463 Flat nasal alar cartilage https://orcid.org/0000-0001-5889-4463 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. 2010-02-25T10:11:43Z UMLS:C4020770 UMLS:C4072878 Decreased size of premaxilla Decreased size of the primary palate bone Hypoplasia of the intermaxillary bone Hypoplasia of the primary palate bone Premaxillary bone deficiency Premaxillary underdevelopment Primary palate bone deficiency Small premaxilla Small primary palate bone Underdevelopment of premaxilla Underdevelopment of the premaxilla Underdevelopment of the primary palate bone human_phenotype Premaxillary bone retrusion Premaxillary retrusion Primary palate bone retrusion HP:0010650 Hypoplasia of the premaxilla HP:0010650 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. PMID:19125436 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0002-0736-9199 Decreased size of premaxilla https://orcid.org/0000-0001-5889-4463 Decreased size of the primary palate bone https://orcid.org/0000-0001-5889-4463 Hypoplasia of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Hypoplasia of the primary palate bone https://orcid.org/0000-0001-5889-4463 Premaxillary bone deficiency https://orcid.org/0000-0001-5889-4463 Premaxillary underdevelopment https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Primary palate bone deficiency https://orcid.org/0000-0001-5889-4463 Small premaxilla https://orcid.org/0000-0001-5889-4463 Small primary palate bone https://orcid.org/0000-0001-5889-4463 Underdevelopment of premaxilla https://orcid.org/0000-0001-5889-4463 Underdevelopment of the premaxilla https://orcid.org/0000-0001-5889-4463 Underdevelopment of the primary palate bone https://orcid.org/0000-0001-5889-4463 Premaxillary bone retrusion https://orcid.org/0000-0001-5889-4463 Premaxillary retrusion https://orcid.org/0000-0001-5889-4463 Primary palate bone retrusion https://orcid.org/0000-0001-5889-4463 An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. 2010-02-25T10:19:40Z UMLS:C4023758 Abnormality of the meninges human_phenotype HP:0010651 Abnormal meningeal morphology HP:0010651 An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. https://orcid.org/0000-0002-0736-9199 An abnormality of the Dura mater. 2010-02-25T10:29:40Z UMLS:C4023757 Abnormality of the dura mater human_phenotype HP:0010652 Abnormal dura mater morphology HP:0010652 An abnormality of the Dura mater. https://orcid.org/0000-0002-0736-9199 An abnormality of the Falx cerebri. 2010-02-25T10:32:52Z UMLS:C4021247 Abnormality of the cerebral falx human_phenotype HP:0010653 The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. Abnormality of the falx cerebri HP:0010653 An abnormality of the Falx cerebri. https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by aplasia of the Falx cerebri. 2010-02-25T10:35:26Z UMLS:C4023756 Absent cerebral falx human_phenotype HP:0010654 Aplasia of the falx cerebri HP:0010654 A developmental defect characterized by aplasia of the Falx cerebri. https://orcid.org/0000-0002-0736-9199 Absent cerebral falx https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. 2010-02-25T09:41:24Z HP:0002658 HP:0010586 SNOMEDCT_US:360507004 UMLS:C1859126 Epiphyseal punctate calcifications Speckled calcifications in end part of bone Stippled epiphyses Stippling of the epiphyses human_phenotype HP:0010655 Stippling resolves with maturation of the epiphysis but is often replaced by some permanent epiphyseal abnormality. Epiphyseal stippling HP:0010655 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of bone https://orcid.org/0000-0001-5208-3432 An abnormality of the formation and mineralization of an epiphysis. 2010-02-25T09:43:04Z UMLS:C4021246 Abnormality of the mineralisation or ossification of the epiphyses human_phenotype Abnormal maturation of the end part of a bone HP:0010656 Abnormal epiphyseal ossification HP:0010656 An abnormality of the formation and mineralization of an epiphysis. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of the end part of a bone https://orcid.org/0000-0001-5208-3432 Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. 2010-02-25T10:32:54Z UMLS:C4023755 human_phenotype HP:0010657 Patchy reduction of bone mineral density HP:0010657 Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). 2010-02-25T10:42:39Z UMLS:C4023754 human_phenotype HP:0010658 Patchy changes of bone mineral density HP:0010658 Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density). https://orcid.org/0000-0002-0736-9199 Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. 2010-02-25T10:49:23Z UMLS:C4021245 Patchy increased and decreased bone mineral density human_phenotype HP:0010659 Patchy variation in bone mineral density HP:0010659 Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. https://orcid.org/0000-0002-0736-9199 Patchy increased and decreased bone mineral density An abnormality of the formation and mineralization of any bone of the skeleton of hand. 2010-02-25T05:18:19Z HP:0005921 UMLS:C4021244 Abnormal ossification of hand bones Abnormality of the mineralisation and ossification of bones of the hand human_phenotype Abnormal maturation of the hand bones HP:0010660 Abnormal hand bone ossification HP:0010660 An abnormality of the formation and mineralization of any bone of the skeleton of hand. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of the hand bones https://orcid.org/0000-0001-5208-3432 A developmental defect characterized by the absence of the third ventricle. 2010-02-26T08:00:47Z UMLS:C4023753 human_phenotype HP:0010661 Absence of the third cerebral ventricle HP:0010661 A developmental defect characterized by the absence of the third ventricle. https://orcid.org/0000-0002-0736-9199 An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. 2010-02-26T08:02:38Z UMLS:C4023752 Abnormality of the diencephalon human_phenotype HP:0010662 The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. Abnormal diencephalon morphology HP:0010662 An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. https://orcid.org/0000-0002-0736-9199 An abnormality of the thalamus. 2010-02-26T08:03:50Z UMLS:C4021243 Abnormal shape of thalamus Abnormality of thalamus morphology Abnormality of the thalamus human_phenotype HP:0010663 Abnormal thalamus morphology HP:0010663 An abnormality of the thalamus. https://orcid.org/0000-0002-0736-9199 Abnormal shape of thalamus https://orcid.org/0000-0001-5208-3432 A developmental defect characterized by fusion of the left and right halves of the thalamus. 2010-02-26T08:04:37Z UMLS:C1834930 UMLS:C4020769 Fused thalami Undivided thalami human_phenotype Fusion of thamali HP:0010664 Fusion of the left and right thalami HP:0010664 A developmental defect characterized by fusion of the left and right halves of the thalamus. https://orcid.org/0000-0002-0736-9199 The presence of bilateral coxa valga. 2010-02-26T08:07:03Z UMLS:C3810018 human_phenotype HP:0010665 Bilateral coxa valga HP:0010665 The presence of bilateral coxa valga. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the anterior nasal spine of maxilla. 2010-02-26T08:10:11Z UMLS:C4023751 UMLS:C4280372 UMLS:C4280373 Decreased projection of anterior nasal spine Decreased size of anterior nasal spine Small anterior nasal spine Underdevelopment of anterior nasal spine Decreased length of anterior nasal spine human_phenotype Deficiency of anterior nasal spine Hypotrophic anterior nasal spine HP:0010666 Hypoplasia of the anterior nasal spine HP:0010666 Underdevelopment of the anterior nasal spine of maxilla. https://orcid.org/0000-0002-0736-9199 Decreased projection of anterior nasal spine https://orcid.org/0000-0001-5889-4463 Decreased size of anterior nasal spine https://orcid.org/0000-0001-5889-4463 Small anterior nasal spine https://orcid.org/0000-0001-5889-4463 Underdevelopment of anterior nasal spine https://orcid.org/0000-0001-5889-4463 Decreased length of anterior nasal spine https://orcid.org/0000-0001-5889-4463 Deficiency of anterior nasal spine https://orcid.org/0000-0001-5889-4463 Hypotrophic anterior nasal spine https://orcid.org/0000-0001-5889-4463 A congenital defect characterized by absence of the Maxilla. 2010-02-26T08:11:45Z Failure of development of upper jaw bones UMLS:C4023750 UMLS:C4280371 Absence of the maxilla Absence of upper jaw bones Agenesis of the maxilla Aplasia of the upper jaw bones Failure of development of maxilla Missing upper jaw bones human_phenotype HP:0010667 Aplasia of the maxilla HP:0010667 A congenital defect characterized by absence of the Maxilla. https://orcid.org/0000-0002-0736-9199 Failure of development of upper jaw bones https://orcid.org/0000-0001-5889-4463 Absence of the maxilla https://orcid.org/0000-0001-5889-4463 Absence of upper jaw bones https://orcid.org/0000-0001-5889-4463 Agenesis of the maxilla https://orcid.org/0000-0001-5889-4463 Aplasia of the upper jaw bones https://orcid.org/0000-0001-5889-4463 Failure of development of maxilla https://orcid.org/0000-0001-5889-4463 Missing upper jaw bones https://orcid.org/0000-0001-5889-4463 An abnormality of the zygomatic bone. 2010-02-26T08:13:11Z HP:0012369 UMLS:C4023749 Abnormal malar bone morphology Abnormality of the cheekbone Abnormality of the zygomatic bone Anomaly of the zygomatic bone Deformity of the cheekbone Deformity of the zygomatic bone Malformation of the zygomatic bone human_phenotype HP:0010668 Abnormal zygomatic bone morphology HP:0010668 An abnormality of the zygomatic bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the cheekbone https://orcid.org/0000-0001-5889-4463 Anomaly of the zygomatic bone https://orcid.org/0000-0001-5889-4463 Deformity of the cheekbone https://orcid.org/0000-0001-5889-4463 Deformity of the zygomatic bone https://orcid.org/0000-0001-5889-4463 Malformation of the zygomatic bone https://orcid.org/0000-0001-5889-4463 Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. 2010-02-26T08:14:04Z Depressed cheekbone Depressed zygomatic bone Flattening of the zygomatic bone Small cheekbone Small malar bone Small zygomatic bone UMLS:C4021242 UMLS:C4072879 UMLS:C4280368 UMLS:C4280369 UMLS:C4280370 Cheekbone underdevelopment Decreased size of cheekbone Decreased size of zygomatic bone Hypoplasia of cheekbone Underdevelopment of cheekbone Underdevelopment of zygomatic bone human_phenotype Hypotrophic cheekbone Hypotrophic zygomatic bone Hypotrophy of the cheekbone Hypotrophy of the zygomatic bone HP:0010669 Hypoplasia of the zygomatic bone HP:0010669 Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. PMID:19125436 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0000-0002-0736-9199 Depressed cheekbone https://orcid.org/0000-0001-5889-4463 Depressed zygomatic bone https://orcid.org/0000-0001-5889-4463 Flattening of the zygomatic bone https://orcid.org/0000-0001-5889-4463 Small cheekbone https://orcid.org/0000-0001-5889-4463 Small malar bone https://orcid.org/0000-0001-5889-4463 Small zygomatic bone https://orcid.org/0000-0001-5889-4463 Cheekbone underdevelopment https://orcid.org/0000-0001-5889-4463 Decreased size of cheekbone https://orcid.org/0000-0001-5889-4463 Decreased size of zygomatic bone https://orcid.org/0000-0001-5889-4463 Hypoplasia of cheekbone https://orcid.org/0000-0001-5889-4463 Underdevelopment of cheekbone https://orcid.org/0000-0001-5889-4463 Underdevelopment of zygomatic bone https://orcid.org/0000-0001-5889-4463 Hypotrophic cheekbone https://orcid.org/0000-0001-5889-4463 Hypotrophic zygomatic bone https://orcid.org/0000-0001-5889-4463 Hypotrophy of the cheekbone https://orcid.org/0000-0001-5889-4463 Hypotrophy of the zygomatic bone https://orcid.org/0000-0001-5889-4463 true HP:0010670 true HP:0010671 An abnormality of the third metatarsal bone. 2010-02-26T08:22:51Z UMLS:C4023748 Abnormality of the 3rd long bone of foot human_phenotype HP:0010672 Abnormality of the third metatarsal bone HP:0010672 An abnormality of the third metatarsal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the 3rd long bone of foot https://orcid.org/0000-0001-5208-3432 true HP:0010673 The presence of an abnormal curvature of the vertebral column. 2010-02-27T06:28:19Z UMLS:C4023747 Abnormal curve of the backbone Abnormal curve of the spine Abnormal curving of the spine Abnormality of the curvature of the vertebral column Curvature of spine Curved spine human_phenotype HP:0010674 Abnormal curvature of the vertebral column HP:0010674 The presence of an abnormal curvature of the vertebral column. https://orcid.org/0000-0002-0736-9199 Abnormal curve of the backbone https://orcid.org/0000-0001-6908-9849 Abnormal curve of the spine https://orcid.org/0000-0001-6908-9849 An abnormality of the formation and mineralization of any bone of the skeleton of foot. 2010-02-28T05:27:47Z HP:0008370 HP:0009133 UMLS:C4020768 UMLS:C4021241 UMLS:C4280367 Abnormality of the mineralisation and ossification of bones of the feet human_phenotype Abnormal maturation of foot bones Abnormal ossification involving bones of the feet HP:0010675 Abnormal foot bone ossification HP:0010675 An abnormality of the formation and mineralization of any bone of the skeleton of foot. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of foot bones https://orcid.org/0000-0001-5208-3432 2010-03-01T08:43:38Z SNOMEDCT_US:46420000 UMLS:C0400843 human_phenotype HP:0010676 Mechanical ileus HP:0010676 Enuresis occurring during sleeping hours. 2010-03-01T09:11:31Z SNOMEDCT_US:8009008 UMLS:C0270327 Nocturnal enuresis human_phenotype HP:0010677 Enuresis nocturna HP:0010677 Enuresis occurring during sleeping hours. https://orcid.org/0009-0006-4530-3154 Enuresis occurring during waking hours of the day. 2010-03-01T09:11:51Z UMLS:C4023746 human_phenotype HP:0010678 Enuresis diurna HP:0010678 Enuresis occurring during waking hours of the day. https://orcid.org/0009-0006-4530-3154 An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2010-03-05T11:08:35Z UMLS:C4021240 Elevated alkaline phosphatase, liver/bone/kidney Elevated tissue non-specific ALP human_phenotype HP:0010679 Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL). Elevated tissue non-specific alkaline phosphatase HP:0010679 An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. https://orcid.org/0000-0002-0736-9199 Elevated tissue non-specific ALP An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2010-03-05T11:09:59Z UMLS:C4023745 Elevated ALP of renal origin human_phenotype HP:0010680 Elevated alkaline phosphatase of renal origin HP:0010680 An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. https://orcid.org/0000-0002-0736-9199 Elevated ALP of renal origin An abnormally increased level of alkaline phosphatase, intestinal type in the blood. 2010-03-05T11:10:34Z UMLS:C4023744 Elevated intestinal ALP human_phenotype HP:0010681 Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). Elevated intestinal alkaline phosphatase HP:0010681 An abnormally increased level of alkaline phosphatase, intestinal type in the blood. https://orcid.org/0000-0002-0736-9199 Elevated intestinal ALP An abnormally increased level of alkaline phosphatase, placental type in the blood. 2010-03-05T11:11:06Z UMLS:C4023743 Elevated placental ALP human_phenotype HP:0010682 Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). Elevated placental alkaline phosphatase HP:0010682 An abnormally increased level of alkaline phosphatase, placental type in the blood. https://orcid.org/0000-0002-0736-9199 Elevated placental ALP An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. 2010-03-05T11:12:08Z UMLS:C4023742 Low tissue non-specific ALP human_phenotype HP:0010683 Low tissue non-specific alkaline phosphatase HP:0010683 An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. https://orcid.org/0000-0002-0736-9199 Low tissue non-specific ALP An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. 2010-03-05T11:12:47Z UMLS:C4023741 Low ALP of bone origin human_phenotype HP:0010684 Low alkaline phosphatase of bone origin HP:0010684 An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood. https://orcid.org/0000-0002-0736-9199 Low ALP of bone origin An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. 2010-03-05T11:12:47Z UMLS:C4023740 Low ALP of renal origin human_phenotype HP:0010685 Low alkaline phosphatase of renal origin HP:0010685 An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood. https://orcid.org/0000-0002-0736-9199 Low ALP of renal origin An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. 2010-03-05T11:12:47Z UMLS:C4023739 Low ALP of hepatic origin human_phenotype HP:0010686 Low alkaline phosphatase of hepatic origin HP:0010686 An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood. https://orcid.org/0000-0002-0736-9199 Low ALP of hepatic origin An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. 2010-03-05T11:13:10Z UMLS:C4023738 Low intestinal ALP human_phenotype HP:0010687 Low intestinal alkaline phosphatase HP:0010687 An abnormally reduced level of alkaline phosphatase, intestinal type in the blood. https://orcid.org/0000-0002-0736-9199 Low intestinal ALP An abnormally reduced level of alkaline phosphatase, placental type in the blood. 2010-03-05T11:13:28Z UMLS:C4023737 Low placental ALP human_phenotype HP:0010688 Low placental alkaline phosphatase HP:0010688 An abnormally reduced level of alkaline phosphatase, placental type in the blood. https://orcid.org/0000-0002-0736-9199 Low placental ALP A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes. 2010-03-05T05:03:16Z SNOMEDCT_US:715440003 UMLS:C1851100 Mirror image duplication of digits human_phenotype HP:0010689 Transplantation of the ZPA (zone of polarized activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. Mirror image polydactyly HP:0010689 A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes. PMID:19125433 https://orcid.org/0009-0006-4530-3154 Mirror image duplication of digits affecting the hands only. 2010-03-05T05:05:05Z UMLS:C4021239 Mirror image duplication of fingers human_phenotype HP:0010690 Mirror image hand polydactyly HP:0010690 Mirror image duplication of digits affecting the hands only. https://orcid.org/0009-0006-4530-3154 Mirror image duplication of fingers Mirror image duplication of digits affecting the feet. 2010-03-05T05:05:05Z UMLS:C4021238 Mirror image duplication of toes human_phenotype HP:0010691 Mirror image foot polydactyly HP:0010691 Mirror image duplication of digits affecting the feet. https://orcid.org/0009-0006-4530-3154 Mirror image duplication of toes HP:0005650 2010-03-05T06:41:50Z human_phenotype HP:0010692 obsolete 2-5 finger syndactyly true HP:0010692 A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. 2010-03-11T02:49:53Z UMLS:C1833118 Pulverulent cataract human_phenotype HP:0010693 The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. Pulverulent cataract HP:0010693 A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. HPO_CONTRIBUTOR:vkumar https://orcid.org/0000-0002-0736-9199 Pulverulent cataract A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. 2010-03-20T11:43:14Z UMLS:C4023735 human_phenotype HP:0010694 Opacities located in the perinuclear (lamellar) zones of the lens. Lamellar pulverulent cataract HP:0010694 A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance. https://orcid.org/0000-0002-0736-9199 A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. 2010-03-20T12:07:04Z UMLS:C4023734 human_phenotype HP:0010695 During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. Sutural cataract HP:0010695 A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. https://orcid.org/0000-0002-0736-9199 A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. 2010-03-20T02:36:22Z UMLS:C2025392 human_phenotype HP:0010696 Polar cataract HP:0010696 A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. https://orcid.org/0000-0002-0736-9199 A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. 2010-03-20T02:38:57Z UMLS:C1392099 human_phenotype Pyramidal cataract HP:0010697 Anterior pyramidal cataract HP:0010697 A type of anterior polar cataract which projects as a conical opacity into the anterior chamber. https://orcid.org/0000-0002-0736-9199 A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. 2010-03-20T02:53:02Z UMLS:C4021237 Central pulverulent cataract Coppock-like cataract Pulverulent nuclear cataract cataracta pulverulenta centralis human_phenotype HP:0010698 Nuclear pulverulent cataract HP:0010698 A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. PMID:10634616 PMID:14059288 https://orcid.org/0000-0002-0736-9199 A nuclear cataract with a triangular form. 2010-03-20T02:58:26Z UMLS:C4023733 human_phenotype HP:0010699 Triangular nuclear cataract HP:0010699 A nuclear cataract with a triangular form. PMID:18483562 https://orcid.org/0000-0002-0736-9199 HP:0000518 human_phenotype HP:0010700 obsolete Total cataract true HP:0010700 An abnormal deviation from normal levels of immunoglobulins in blood. 2010-03-22T08:17:49Z HP:0002961 HP:0100032 UMLS:C1855755 Abnormal immunoglobulin concentration Abnormal immunoglobulin level Abnormal serum immunoglobulin concentration Abnormal serum immunoglobulin levels Abnormal serum level of immunoglobulin Immunoglobulin abnormality human_phenotype HP:0010701 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) Abnormal circulating immunoglobulin concentration HP:0010701 An abnormal deviation from normal levels of immunoglobulins in blood. https://orcid.org/0000-0002-0736-9199 Abnormal serum immunoglobulin levels https://orcid.org/0000-0002-5316-1399 An increased level of gamma globulin (immunoglobulin) in the blood. 2010-03-22T08:20:07Z HP:0002852 HP:0004314 HP:0004435 SNOMEDCT_US:127388009 SNOMEDCT_US:129646001 UMLS:C0020455 UMLS:C0151669 UMLS:C0541985 UMLS:C1306857 UMLS:C2048011 Elevated immunoglobulin levels Hypergammaglobulinaemia Hypergammaglobulinemia Increased antibody level in blood Increased circulating antibody concentration Increased circulating antibody level Increased gamma globulin Increased immunoglobulin level Increased serum gamma globulin Raised immunoglobulin levels human_phenotype HP:0010702 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. Increased circulating immunoglobulin concentration HP:0010702 An increased level of gamma globulin (immunoglobulin) in the blood. https://orcid.org/0000-0002-0736-9199 Increased antibody level in blood Increased circulating antibody concentration Increased circulating antibody level true HP:0010703 A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:07:14Z UMLS:C4023732 Webbed 1st-2nd finger Webbed thumb and index finger human_phenotype HP:0010704 1-2 finger cutaneous syndactyly HP:0010704 A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed 1st-2nd finger https://orcid.org/0000-0001-5208-3432 Webbed thumb and index finger https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:12:44Z UMLS:C4023731 Webbed 4th-5th finger human_phenotype HP:0010705 4-5 finger cutaneous syndactyly HP:0010705 A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed 4th-5th finger https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:12:44Z UMLS:C4023730 Webbed 1st-3rd finger human_phenotype HP:0010706 1-3 finger cutaneous syndactyly HP:0010706 A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed 1st-3rd finger https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:12:44Z UMLS:C4023729 Webbed 1st-4th finger human_phenotype HP:0010707 1-4 finger cutaneous syndactyly HP:0010707 A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed 1st-4th finger https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand). 2010-03-26T05:12:44Z UMLS:C4023728 Webbed 1-5 fingers Webbed 1st-5th fingers human_phenotype HP:0010708 1-5 finger cutaneous syndactyly HP:0010708 A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand). https://orcid.org/0009-0006-4530-3154 Webbed 1st-5th fingers https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:12:44Z HP:0005797 HP:0006018 UMLS:C4021236 Syndactyly of second to fourth fingers Webbed index through ring fingers human_phenotype HP:0010709 2-4 finger cutaneous syndactyly HP:0010709 A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed index through ring fingers https://orcid.org/0000-0001-5208-3432 A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints. 2010-03-26T05:12:44Z UMLS:C4023727 Webbed third, fourth and fifth toes human_phenotype HP:0010710 3-5 finger syndactyly HP:0010710 A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints. https://orcid.org/0009-0006-4530-3154 Webbed third, fourth and fifth toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes one and two. 2010-03-26T05:22:26Z UMLS:C4023726 Webbed 1st-2nd toes Webbed first and second toes human_phenotype HP:0010711 1-2 toe syndactyly HP:0010711 Syndactyly with fusion of toes one and two. https://orcid.org/0009-0006-4530-3154 Webbed first and second toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes one to four. 2010-03-26T05:22:26Z UMLS:C4023725 Webbed first through fourth toes human_phenotype HP:0010712 1-4 toe syndactyly HP:0010712 Syndactyly with fusion of toes one to four. https://orcid.org/0009-0006-4530-3154 Webbed first through fourth toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). 2010-03-26T05:22:26Z HP:0005812 UMLS:C4021235 Syndactyly of all toes Webbed 1st-5th toes human_phenotype HP:0010713 1-5 toe syndactyly HP:0010713 Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). https://orcid.org/0009-0006-4530-3154 Webbed 1st-5th toes https://orcid.org/0000-0001-5889-4463 Syndactyly with fusion of toes two to four. 2010-03-26T05:22:26Z HP:0005642 HP:0005708 UMLS:C4021234 Syndactyly of toes 2, 3 and 4 Syndactyly toes 2-4 Webbed 2nd-4th toes human_phenotype HP:0010714 2-4 toe syndactyly HP:0010714 Syndactyly with fusion of toes two to four. https://orcid.org/0009-0006-4530-3154 Webbed 2nd-4th toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes two to five. 2010-03-26T05:22:26Z UMLS:C4023724 Webbed 2nd-5th toes human_phenotype HP:0010715 2-5 toe syndactyly HP:0010715 Syndactyly with fusion of toes two to five. https://orcid.org/0009-0006-4530-3154 Webbed 2nd-5th toes https://orcid.org/0000-0001-5208-3432 Syndactyly with fusion of toes three to five. 2010-03-26T05:22:26Z UMLS:C4023723 Webbed 3rd-5th toes human_phenotype HP:0010716 3-5 toe syndactyly HP:0010716 Syndactyly with fusion of toes three to five. https://orcid.org/0009-0006-4530-3154 Webbed 3rd-5th toes https://orcid.org/0000-0001-5889-4463 Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". 2010-03-26T05:31:50Z SNOMEDCT_US:32113001 SNOMEDCT_US:38859008 UMLS:C0158738 Osseous syndactyly of the toes human_phenotype HP:0010717 Osseous syndactyly of toes HP:0010717 Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". https://orcid.org/0009-0006-4530-3154 true HP:0010718 An abnormality of the texture of the hair. 2010-04-20T09:41:53Z HP:0002295 HP:0003776 UMLS:C4023722 UMLS:C4072880 UMLS:C4072881 UMLS:C4073290 Abnormality of hair texture Abnormality of hair consistency Abnormality of hair curl pattern Abnormality of hair volume human_phenotype HP:0010719 Abnormality of hair texture HP:0010719 An abnormality of the texture of the hair. https://orcid.org/0000-0002-0736-9199 Abnormality of hair texture Abnormality of hair consistency https://orcid.org/0000-0001-5889-4463 Abnormality of hair curl pattern https://orcid.org/0000-0001-5889-4463 Abnormality of hair volume https://orcid.org/0000-0001-5889-4463 An abnormality of the distribution of hair growth. 2010-04-20T09:53:15Z UMLS:C4023721 Abnormal distribution of hair Abnormal hair pattern human_phenotype HP:0010720 Abnormal hair pattern HP:0010720 An abnormality of the distribution of hair growth. https://orcid.org/0000-0002-0736-9199 Abnormal distribution of hair https://orcid.org/0000-0001-5889-4463 Abnormal hair pattern An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). 2010-04-20T10:05:04Z UMLS:C3280303 Abnormal hair whorl Abnormal hair whorls Abnormal whorl of hair human_phenotype HP:0010721 Abnormal hair whorl HP:0010721 An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). https://orcid.org/0000-0002-0736-9199 Abnormal hair whorl Abnormal hair whorls https://orcid.org/0000-0002-5316-1399 Abnormal whorl of hair An asymmetriy, i.e., difference in size, shape or position between the left and right ear. 2010-04-20T10:11:45Z UMLS:C1168239 Asymmetric ears human_phenotype HP:0010722 Asymmetry of the ears HP:0010722 An asymmetriy, i.e., difference in size, shape or position between the left and right ear. https://orcid.org/0000-0002-0736-9199 Asymmetric ears 2010-04-20T10:17:01Z HP:0008557 UMLS:C4023720 human_phenotype HP:0010723 Cystic lesions of the pinnae HP:0010723 An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. 2010-04-20T10:38:57Z UMLS:C4021828 human_phenotype HP:0010724 Advanced pneumatization of the mastoid process HP:0010724 An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. https://orcid.org/0000-0002-0736-9199 true HP:0010725 Abnormal prominence of the corneal nerve fibers. 2010-04-20T10:52:24Z UMLS:C4021233 Myelinated corneal nerves Peripheral corneal nerve myelination Peripheral myelinating corneal nerve fibers Prominent corneal nerve fibres Visible corneal nerve fibers Visible corneal nerve fibres human_phenotype HP:0010726 Prominent corneal nerve fibers HP:0010726 Abnormal prominence of the corneal nerve fibers. HPO_CONTRIBUTOR:DDD_ncarter https://orcid.org/0000-0002-0736-9199 Prominent corneal nerve fibres Visible corneal nerve fibres Rupture of the eyeball not due to trauma. 2010-04-20T11:05:28Z UMLS:C4023719 human_phenotype HP:0010727 Spontaneous rupture of the globe HP:0010727 Rupture of the eyeball not due to trauma. https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by absence of the retina. 2010-04-20T11:09:59Z UMLS:C4023718 Absent retina human_phenotype HP:0010728 Aplasia of the retina HP:0010728 A developmental defect characterized by absence of the retina. https://orcid.org/0000-0002-0736-9199 Absent retina https://orcid.org/0000-0001-5208-3432 Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula. 2010-04-20T11:14:11Z UMLS:C2216370 Macular cherry red spot human_phenotype HP:0010729 Cherry red spot of the macula HP:0010729 Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula. https://orcid.org/0000-0002-0736-9199 This may present as a partial or complete duplication of the eyebrows. 2010-04-21T04:16:59Z SNOMEDCT_US:253209004 UMLS:C0431449 Double eyebrow Duplication of eyebrow human_phenotype HP:0010730 Double eyebrow is commonly a feature of Mowat Wilson syndrome. Double eyebrow HP:0010730 This may present as a partial or complete duplication of the eyebrows. https://orcid.org/0009-0006-4530-3154 Double eyebrow Duplication of eyebrow https://orcid.org/0000-0001-5889-4463 The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. 2010-04-21T04:46:32Z UMLS:C4023717 Extension of eyebrows towards upper eyelid human_phenotype HP:0010731 This is commonly a feature of Jacobson syndrome. Extension of eyebrows towards upper eyelid HP:0010731 The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid. https://orcid.org/0009-0006-4530-3154 Extension of eyebrows towards upper eyelid Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. 2010-04-21T05:11:04Z UMLS:C4023716 Eyelid nodules human_phenotype HP:0010732 Nodular changes affecting the eyelids HP:0010732 Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. https://orcid.org/0009-0006-4530-3154 Eyelid nodules https://orcid.org/0000-0001-5889-4463 Naevus flammeus localized in the skin of the eyelid. 2010-04-21T05:18:41Z UMLS:C1854409 Port-wine stain on eyelid human_phenotype HP:0010733 Naevus flammeus of the eyelid HP:0010733 Naevus flammeus localized in the skin of the eyelid. https://orcid.org/0009-0006-4530-3154 Port-wine stain on eyelid https://orcid.org/0000-0001-5208-3432 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). 2010-04-21T06:27:42Z SNOMEDCT_US:10623005 UMLS:C0016063 human_phenotype HP:0010734 Fibrous dysplasia of the bones HP:0010734 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). https://orcid.org/0009-0006-4530-3154 Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. 2010-04-21T06:31:50Z SNOMEDCT_US:36517007 UMLS:C0016065 human_phenotype HP:0010735 Polyostotic fibrous dysplasia HP:0010735 Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. https://orcid.org/0009-0006-4530-3154 Fibrous dysplasia of the bones were lesions are localized in only one bone. 2010-04-21T06:31:50Z SNOMEDCT_US:89859004 UMLS:C0016064 human_phenotype HP:0010736 Monostotic fibrous dysplasia HP:0010736 Fibrous dysplasia of the bones were lesions are localized in only one bone. https://orcid.org/0009-0006-4530-3154 true HP:0010737 true HP:0010738 Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. 2010-04-21T07:19:11Z SNOMEDCT_US:9147009 UMLS:C0029455 human_phenotype HP:0010739 Osteopoikilosis HP:0010739 Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. https://orcid.org/0009-0006-4530-3154 A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. 2010-04-21T07:30:24Z SNOMEDCT_US:82663009 UMLS:C0265513 human_phenotype HP:0010740 Osteopathia striata HP:0010740 A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. https://orcid.org/0009-0006-4530-3154 An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. 2010-04-22T02:16:54Z SNOMEDCT_US:102572006 UMLS:C0235886 UMLS:C0239340 Edema of the lower limbs Fluid accumulation in lower limbs Leg edema Leg oedema Lower leg swelling Oedema of the lower limbs Pedal oedema Peripheral edema of lower extremity Peripheral oedema of lower extremity human_phenotype Dependant edema Dependant oedema HP:0010741 Pedal edema HP:0010741 An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. https://orcid.org/0000-0002-0736-9199 Fluid accumulation in lower limbs https://orcid.org/0000-0001-5208-3432 Leg oedema Lower leg swelling Oedema of the lower limbs Pedal oedema Peripheral oedema of lower extremity Dependant oedema An abnormal accumulation of fluid beneath the skin of the arms. 2010-04-22T02:17:15Z SNOMEDCT_US:102558002 UMLS:C0522035 Fluid accumulation in upper limbs Oedema of the upper limbs human_phenotype HP:0010742 Edema of the upper limbs HP:0010742 An abnormal accumulation of fluid beneath the skin of the arms. https://orcid.org/0000-0002-0736-9199 Fluid accumulation in upper limbs https://orcid.org/0000-0001-5208-3432 Oedema of the upper limbs Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. 2010-04-22T04:30:18Z HP:0001779 HP:0001865 HP:0003092 HP:0004706 HP:0005754 UMLS:C1849020 Hypoplasia of the metatarsal bones Hypoplastic metatarsals Short long bone of foot Short metatarsal bone Short metatarsals Shortened metatarsals human_phenotype Short metatarsal bones HP:0010743 This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. Short metatarsal HP:0010743 Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Short long bone of foot https://orcid.org/0000-0001-5208-3432 Short metatarsal bones https://orcid.org/0000-0002-5316-1399 A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. 2010-04-22T04:30:18Z UMLS:C4021232 Absent long bone of foot Aplasia of the metatarsal bones human_phenotype HP:0010744 Absent metatarsal bone HP:0010744 A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. https://orcid.org/0000-0002-0736-9199 Absent long bone of foot https://orcid.org/0000-0001-5208-3432 Absence of a digit or of one or more phalanges of a toe. 2010-04-22T04:33:06Z UMLS:C4021231 Absent bones of the toes Aphalangia of the toes human_phenotype HP:0010745 Aplasia of the phalanges of the toes HP:0010745 Absence of a digit or of one or more phalanges of a toe. https://orcid.org/0000-0002-0736-9199 Absent bones of the toes https://orcid.org/0000-0001-5208-3432 2010-04-22T04:33:06Z UMLS:C4023715 Small toe bones human_phenotype HP:0010746 Hypoplasia of the phalanges of the toes HP:0010746 Small toe bones https://orcid.org/0000-0001-5208-3432 An abnormal distribution of eyebrow hair growth in the medial direction. 2010-04-23T09:29:58Z UMLS:C1844562 Medially flared eyebrows human_phenotype HP:0010747 Medial flaring of the eyebrow HP:0010747 An abnormal distribution of eyebrow hair growth in the medial direction. https://orcid.org/0000-0002-0736-9199 Positioning of a lacrimal punctum other than at the medial margins of the eyelid. 2010-04-23T09:35:56Z UMLS:C4021230 Abnormal position of the lacrimal punctum human_phenotype HP:0010748 The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. Ectopic lacrimal punctum HP:0010748 Positioning of a lacrimal punctum other than at the medial margins of the eyelid. PMID:19125427 Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. 2010-04-23T09:53:13Z SNOMEDCT_US:47704002 UMLS:C0005742 Saggy upper eyelid skin human_phenotype HP:0010749 Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. Blepharochalasis HP:0010749 Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. PMID:3207663 Saggy upper eyelid skin https://orcid.org/0000-0001-5889-4463 Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. 2010-04-23T10:07:56Z SNOMEDCT_US:246815009 UMLS:C0423124 UMLS:C2674149 Baggy eyes Droopy eyelid skin Extra eyelid skin Eyelid dermatochalasia Redundant eyelid skin human_phenotype Hooding of eyelids HP:0010750 Dermatochalasis HP:0010750 Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. https://orcid.org/0000-0002-0736-9199 Baggy eyes https://orcid.org/0000-0001-5889-4463 Droopy eyelid skin https://orcid.org/0000-0001-5889-4463 Extra eyelid skin https://orcid.org/0000-0001-5889-4463 Redundant eyelid skin https://orcid.org/0000-0001-5889-4463 Hooding of eyelids https://orcid.org/0000-0001-5889-4463 A persistent midline depression of the skin over the fat pad of the chin. 2010-04-23T10:29:03Z UMLS:C1849227 Chin butt Chin dent Chin dimple Chin skin dimple Dimple chin Gelasin of chin Indentation of chin human_phenotype Chin dimples HP:0010751 Dimple chin HP:0010751 A persistent midline depression of the skin over the fat pad of the chin. PMID:19125436 Chin butt Chin dent https://orcid.org/0000-0001-5889-4463 Chin dimple Chin skin dimple Dimple chin Gelasin of chin https://orcid.org/0000-0001-5889-4463 Indentation of chin https://orcid.org/0000-0001-5889-4463 Chin dimples https://orcid.org/0000-0002-5316-1399 Midline deficiency of the mandible and some or all overlying tissues. 2010-04-23T10:32:09Z SNOMEDCT_US:92822004 UMLS:C0685786 Cleft lower jaw Mandibular cleft human_phenotype HP:0010752 Cleft mandible HP:0010752 Midline deficiency of the mandible and some or all overlying tissues. PMID:19125436 Cleft lower jaw Mandibular cleft https://orcid.org/0000-0001-5889-4463 2010-04-23T10:32:46Z UMLS:C4023714 Midline cleft of mandible human_phenotype HP:0010753 Midline defect of mandible HP:0010753 Midline cleft of mandible https://orcid.org/0000-0001-5889-4463 An anomaly of the temporomandibular joint. 2010-04-23T10:36:28Z SNOMEDCT_US:248401009 SNOMEDCT_US:75630004 UMLS:C0266941 UMLS:C0424721 UMLS:C1865318 UMLS:C4280366 Abnormality of the jaw joint Anomaly of the temporomandibular joint Deformity of the jaw joint Malformation of jaw joint Deformity of the temporomandibular joint Derangement of the temporomandibular joint Malformation of the temporomandibular joint human_phenotype HP:0010754 Abnormality of the temporomandibular joint HP:0010754 An anomaly of the temporomandibular joint. https://orcid.org/0000-0002-0736-9199 Abnormality of the jaw joint Anomaly of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Deformity of the jaw joint Malformation of jaw joint Deformity of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Derangement of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Malformation of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Asymmetry between the left and right sides of the maxilla. 2010-04-23T10:38:44Z Asymmetry of the upper jaw Asymmetry of upper jaw Crooked upper jaw SNOMEDCT_US:235083001 UMLS:C0399519 Asymmetry of right and left side of the maxilla Canted maxilla Canted upper jaw Crooked maxilla Tilted maxilla Tilted upper jaw Unequal sides of maxilla Uneven maxilla Uneven upper jaw human_phenotype Deviation of the maxilla Deviation of the upper jaw HP:0010755 Asymmetry of the maxilla HP:0010755 Asymmetry between the left and right sides of the maxilla. https://orcid.org/0000-0001-5889-4463 Asymmetry of the upper jaw https://orcid.org/0000-0001-5889-4463 Asymmetry of upper jaw https://orcid.org/0000-0001-5889-4463 Crooked upper jaw https://orcid.org/0000-0001-5889-4463 Asymmetry of right and left side of the maxilla https://orcid.org/0000-0001-5889-4463 Canted maxilla https://orcid.org/0000-0001-5889-4463 Canted upper jaw https://orcid.org/0000-0001-5889-4463 Crooked maxilla https://orcid.org/0000-0001-5889-4463 Tilted maxilla https://orcid.org/0000-0001-5889-4463 Tilted upper jaw https://orcid.org/0000-0001-5889-4463 Unequal sides of maxilla https://orcid.org/0000-0001-5889-4463 Uneven maxilla https://orcid.org/0000-0001-5889-4463 Uneven upper jaw https://orcid.org/0000-0001-5889-4463 Deviation of the maxilla https://orcid.org/0000-0001-5889-4463 Deviation of the upper jaw https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of the premaxilla. 2010-04-23T10:40:40Z UMLS:C4023713 Aplasia/hypoplasia of the intermaxillary bone Aplasia/hypoplasia of the primary palate bone human_phenotype HP:0010756 Aplasia/Hypoplasia of the premaxilla HP:0010756 Absence or underdevelopment of the premaxilla. https://orcid.org/0000-0002-0736-9199 Aplasia/hypoplasia of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Aplasia/hypoplasia of the primary palate bone https://orcid.org/0000-0001-5889-4463 Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. 2010-04-23T10:42:17Z UMLS:C4023712 Absence of the intermaxillary bone Absence of the premaxilla Absence of the primary palate bone Aplasia of the intermaxillary bone Aplasia of the primary palate bone Failure of development of premaxilla Failure of development of the primary palate bone Missing premaxilla Missing primary palate bone human_phenotype HP:0010757 Aplasia of the premaxilla HP:0010757 Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla. https://orcid.org/0000-0002-0736-9199 Absence of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Absence of the premaxilla https://orcid.org/0000-0001-5889-4463 Absence of the primary palate bone https://orcid.org/0000-0001-5889-4463 Aplasia of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Aplasia of the primary palate bone https://orcid.org/0000-0001-5889-4463 Failure of development of premaxilla https://orcid.org/0000-0001-5889-4463 Failure of development of the primary palate bone https://orcid.org/0000-0001-5889-4463 Missing premaxilla https://orcid.org/0000-0001-5889-4463 Missing primary palate bone https://orcid.org/0000-0001-5889-4463 An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. 2010-04-23T10:59:07Z UMLS:C4023711 Abnormality of the intermaxillary bone Abnormality of the intermaxillary segment of the maxilla Abnormality of the premaxillary bone Abnormality of the primary palate bone human_phenotype HP:0010758 Abnormality of the premaxilla HP:0010758 An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate. https://orcid.org/0000-0001-5889-4463 https://orcid.org/0009-0006-4530-3154 Abnormality of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Abnormality of the intermaxillary segment of the maxilla https://orcid.org/0000-0001-5889-4463 Abnormality of the premaxillary bone https://orcid.org/0000-0001-5889-4463 Abnormality of the primary palate bone https://orcid.org/0000-0001-5889-4463 Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. 2010-04-23T11:01:23Z UMLS:C2749369 Anterior position of the premaxilla Anterior position of the primary palate bone Premaxillary bone excess Prominence of the intermaxillary bone Prominence of the primary palate bone Prominent premaxilla human_phenotype HP:0010759 As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. Prominence of the premaxilla HP:0010759 Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. PMID:19125436 https://orcid.org/0000-0001-5889-4463 https://orcid.org/0009-0006-4530-3154 Anterior position of the premaxilla https://orcid.org/0000-0001-5889-4463 Anterior position of the primary palate bone https://orcid.org/0000-0001-5889-4463 Premaxillary bone excess https://orcid.org/0000-0001-5889-4463 Prominence of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Prominence of the primary palate bone https://orcid.org/0000-0001-5889-4463 Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. 2010-04-23T03:58:25Z HP:0008084 HP:0010108 HP:0011306 UMLS:C3553754 Absent toe Absent toes Aplasia of toe human_phenotype Aplasia of the toes HP:0010760 This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. Absent toe HP:0010760 Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. https://orcid.org/0000-0002-0736-9199 Absent toe Absent toes https://orcid.org/0000-0002-5316-1399 Increased width of the columella. 2010-04-24T11:52:54Z UMLS:C1851059 UMLS:C4280365 Columella, broad Columella, wide Fullness of columella Increased width of columella human_phenotype Hyperplasia of columella HP:0010761 Broad columella HP:0010761 Increased width of the columella. PMID:19152422 Fullness of columella https://orcid.org/0000-0001-5889-4463 Increased width of columella https://orcid.org/0000-0001-5889-4463 Hyperplasia of columella https://orcid.org/0000-0001-5889-4463 A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. 2010-06-25T09:00:39Z NCIT:C2947 SNOMEDCT_US:50007008 UMLS:C0008487 human_phenotype HP:0010762 The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. Chordoma HP:0010762 A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. https://orcid.org/0000-0002-0736-9199 Insertion of the posterior columella below the nasal base. 2010-04-24T12:12:25Z Ala higher than columella UMLS:C4021229 UMLS:C4280364 Columella, low insertion human_phenotype HP:0010763 This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. Low insertion of columella HP:0010763 Insertion of the posterior columella below the nasal base. PMID:19152422 Ala higher than columella https://orcid.org/0000-0001-5889-4463 Decreased length of the eyelashes (subjective). 2010-04-24T03:31:00Z UMLS:C2748682 Decreased length of eyelashes Short eyelashes human_phenotype HP:0010764 Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Short eyelashes HP:0010764 Decreased length of the eyelashes (subjective). https://orcid.org/0000-0002-0736-9199 Decreased length of eyelashes https://orcid.org/0000-0001-5889-4463 Short eyelashes Abnormal thickening of the skin localized to the palm of the hand. 2010-04-24T03:53:19Z UMLS:C4023710 human_phenotype HP:0010765 Palmar hyperkeratosis HP:0010765 Abnormal thickening of the skin localized to the palm of the hand. https://orcid.org/0000-0002-0736-9199 Deposition of calcium salts in a tissue or location in which calcification does not normally occur. 2010-04-27T09:52:59Z UMLS:C3806226 human_phenotype HP:0010766 Ectopic calcification HP:0010766 Deposition of calcium salts in a tissue or location in which calcification does not normally occur. https://orcid.org/0000-0002-0736-9199 The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. 2010-04-29T09:45:21Z UMLS:C4023709 human_phenotype HP:0010767 Sacrococcygeal pilonidal abnormality HP:0010767 The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. https://orcid.org/0000-0002-0736-9199 true HP:0010768 A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. 2010-04-29T09:55:15Z HP:0010768 SNOMEDCT_US:47639008 UMLS:C0031925 Pilonidal cyst human_phenotype HP:0010769 Pilonidal sinus HP:0010769 A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. https://orcid.org/0000-0002-0736-9199 2010-04-29T09:55:15Z SNOMEDCT_US:47639008 UMLS:C0031925 human_phenotype HP:0010770 Pilonidal fistula HP:0010770 A hair-containing cyst or sinus usually in the coccygeal region. 2010-04-29T09:55:15Z SNOMEDCT_US:85224001 UMLS:C3537055 Sacrococcygeal fistula human_phenotype HP:0010771 Pilonidal abscess HP:0010771 A hair-containing cyst or sinus usually in the coccygeal region. https://orcid.org/0000-0002-0736-9199 A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. 2010-04-29T10:02:26Z SNOMEDCT_US:111323005 SNOMEDCT_US:39905002 UMLS:C0036400 human_phenotype HP:0010772 Anomalous pulmonary venous return HP:0010772 A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. https://orcid.org/0000-0002-0736-9199 A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. 2010-04-29T10:03:02Z Fyler:2030 SNOMEDCT_US:68237008 UMLS:C0158634 PAPVC PAPVD PAPVR Partial anomalous pulmonary venous connection Partial anomalous pulmonary venous drainage human_phenotype HP:0010773 Partial anomalous pulmonary venous return HP:0010773 A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. https://orcid.org/0000-0002-0736-9199 PAPVC PAPVD PAPVR The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). 2010-04-29T10:07:24Z Fyler:3031 ICD-10:Q24.2 UMLS:C4023708 Triatrial heart human_phenotype HP:0010774 Cor triatriatum HP:0010774 The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. 2010-04-29T10:18:47Z Fyler:2760 SNOMEDCT_US:110409004 SNOMEDCT_US:66403007 UMLS:C0221214 Vascular ring of aorta human_phenotype HP:0010775 Vascular ring HP:0010775 A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. https://orcid.org/0000-0002-0736-9199 Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. 2010-04-29T10:22:55Z UMLS:C4023707 human_phenotype HP:0010776 Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. Tracheobronchmegaly HP:0010776 Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection. https://orcid.org/0000-0002-0736-9199 Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. 2010-04-29T10:25:22Z UMLS:C4023706 human_phenotype HP:0010777 Bronchomegaly HP:0010777 Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection. https://orcid.org/0000-0002-0736-9199 Marked widening of the trachea. 2010-04-29T10:28:51Z UMLS:C4023705 human_phenotype HP:0010778 Tracheomegaly HP:0010778 Marked widening of the trachea. https://orcid.org/0000-0002-0736-9199 The presence of an abnormally large pelvis. 2010-04-29T11:03:39Z Large pelvis UMLS:C4019074 UMLS:C4072882 Large pelvis bone human_phenotype HP:0010779 Large pelvis bone HP:0010779 The presence of an abnormally large pelvis. https://orcid.org/0000-0002-0736-9199 Large pelvis https://orcid.org/0000-0002-5316-1399 Large pelvis bone Over-sensitivity to certain frequency ranges of sound. 2010-04-29T04:42:44Z SNOMEDCT_US:194399009 SNOMEDCT_US:25289003 UMLS:C0034880 human_phenotype HP:0010780 Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Listeners with hearing loss often struggle to detect low-level sounds, but as the sound intensity rises above threshold, loudness initially grows at a faster than normal rate, but the growth rate slows with increasing intensity so that normal loudness is achieved at high intensities. This phenomenon is referred to as loudness recruitment. However, in some hearing-impaired listeners,loudness continues to grow more rapidly than normal at suprathreshold intensities causing moderately intense sounds to be perceived as louder than normal, a debilitating condition known as hyperacusis or loudness intolerance. Hyperacusis HP:0010780 Over-sensitivity to certain frequency ranges of sound. PMID:14645606 PMID:14647932 PMID:31669363 Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. 2010-04-30T11:34:41Z SNOMEDCT_US:301854006 UMLS:C0578531 Skin dimples human_phenotype HP:0010781 Skin dimple HP:0010781 Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. https://orcid.org/0000-0002-0736-9199 Skin dimples A subtype of skin dimples occurring in the shoulder region. 2010-04-30T11:36:51Z UMLS:C4023704 Acromial dimple Bi-acromial dimples Shoulder dimples human_phenotype HP:0010782 Symmetrical dimples of the skin overlying the acromial process of the scapulae are called bi-acromial dimples. Shoulder dimple HP:0010782 A subtype of skin dimples occurring in the shoulder region. PMID:22679172 https://orcid.org/0000-0002-0736-9199 Bi-acromial dimples Shoulder dimples Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. 2010-04-30T11:40:43Z SNOMEDCT_US:20255002 SNOMEDCT_US:238810007 SNOMEDCT_US:247441003 SNOMEDCT_US:271811009 SNOMEDCT_US:444827008 SNOMEDCT_US:70819003 SNOMEDCT_US:86735004 UMLS:C0016382 UMLS:C0041834 Redness of skin or mucous membrane human_phenotype HP:0010783 Erythema HP:0010783 Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-6548-5200 Redness of skin or mucous membrane A tumor (abnormal growth of tissue) of the uterus. 2010-05-04T09:35:15Z Uterine cancer NCIT:C3262 SNOMEDCT_US:126908007 UMLS:C0042138 Uterine tumor Uterine tumour human_phenotype Uterine neoplasia HP:0010784 Uterine neoplasm HP:0010784 A tumor (abnormal growth of tissue) of the uterus. https://orcid.org/0000-0002-0736-9199 Uterine cancer Uterine tumor https://orcid.org/0000-0001-5208-3432 Uterine tumour A tumor (abnormal growth of tissue) of a gonad. 2010-05-04T09:44:41Z NCIT:C3262 UMLS:C4021228 Gonadal neoplasia human_phenotype HP:0010785 Gonadal neoplasm HP:0010785 A tumor (abnormal growth of tissue) of a gonad. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the urinary system. 2010-05-04T09:45:25Z NCIT:C3262 SNOMEDCT_US:126879004 SNOMEDCT_US:254913005 UMLS:C0042076 human_phenotype Urinary tract neoplasia HP:0010786 Urinary tract neoplasm HP:0010786 The presence of a neoplasm of the urinary system. https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the genital system. 2010-05-04T09:47:50Z NCIT:C3262 UMLS:C0679347 UMLS:C4020767 Genital tumor Genital tumour human_phenotype Genital neoplasia HP:0010787 Genital neoplasm HP:0010787 A tumor (abnormal growth of tissue) of the genital system. https://orcid.org/0000-0002-0736-9199 Genital tumor https://orcid.org/0000-0001-5208-3432 Genital tumour The presence of a neoplasm of the testis. 2010-05-04T09:48:35Z Testicular cancer NCIT:C3262 SNOMEDCT_US:126900000 UMLS:C0039590 Testicular tumor Testicular tumour human_phenotype Testicular neoplasia HP:0010788 Testicular neoplasm HP:0010788 The presence of a neoplasm of the testis. https://orcid.org/0000-0002-0736-9199 Testicular cancer Testicular tumor https://orcid.org/0000-0001-5208-3432 Testicular tumour 2010-05-04T09:50:45Z UMLS:C4023703 human_phenotype HP:0010789 Abnormality of the Leydig cells HP:0010789 Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. 2010-05-04T09:51:03Z UMLS:C4023702 human_phenotype HP:0010790 Hypoplasia of the Leydig cells HP:0010790 Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. https://orcid.org/0000-0002-0736-9199 Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. 2010-05-04T09:51:26Z SNOMEDCT_US:76085008 UMLS:C0023600 human_phenotype HP:0010791 Hyperplasia of the Leydig cells HP:0010791 Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. https://orcid.org/0000-0002-0736-9199 true HP:0010792 A digit with two nails, with at least some soft tissue between them. 2010-05-04T10:34:02Z SNOMEDCT_US:110992006 UMLS:C0544857 Notched nail duplicated nail human_phenotype HP:0010793 Bifid nail HP:0010793 A digit with two nails, with at least some soft tissue between them. PMID:19125433 Notched nail https://orcid.org/0000-0001-5208-3432 Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). 2010-05-10T01:43:01Z UMLS:C4023701 human_phenotype HP:0010794 The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. Impaired visuospatial constructive cognition HP:0010794 Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). PMID:10521286 https://orcid.org/0009-0006-4530-3154 A glioma affecting the cerebellum. 2010-06-25T09:08:32Z UMLS:C4023700 human_phenotype HP:0010795 Cerebellar glioma HP:0010795 A glioma affecting the cerebellum. https://orcid.org/0000-0002-0736-9199 A glioma affecting the brainstem. 2010-06-25T09:10:45Z SNOMEDCT_US:444545003 UMLS:C0677865 human_phenotype HP:0010796 Brainstem glioma HP:0010796 A glioma affecting the brainstem. https://orcid.org/0000-0002-0736-9199 A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. 2010-06-25T09:18:32Z NCIT:C3801 SNOMEDCT_US:81201000 UMLS:C0206734 Haemangioblastoma human_phenotype HP:0010797 Hemangioblastoma HP:0010797 A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. https://orcid.org/0000-0002-0736-9199 Increased focal pigmentation of the vermilion of the lips. 2010-06-26T01:59:19Z SNOMEDCT_US:239136007 UMLS:C0406814 Ephelis of lip Labial lentigo Lip freckle Lip lentigo human_phenotype HP:0010798 Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. Lip freckle HP:0010798 Increased focal pigmentation of the vermilion of the lips. PMID:19125428 Ephelis of lip https://orcid.org/0000-0001-5889-4463 Lip freckle A neoplasm of the pineal gland. 2010-06-25T09:27:58Z NCIT:C3328 SNOMEDCT_US:127026004 SNOMEDCT_US:359619007 SNOMEDCT_US:47598005 UMLS:C0031941 human_phenotype HP:0010799 Pineal tumors are a rare and heterogeneous group of primary central nervous system neoplasms, including pineal parenchymal tumors (pineocytomas, pineal parenchymal tumors of intermediate differentiation, and pineoblastomas), germ cell tumors, and neuroepithelial tumors, such as astrocytomas, ependymomas, and papillary tumor of the pineal region. Pinealoma HP:0010799 A neoplasm of the pineal gland. https://orcid.org/0000-0002-0736-9199 Lack of paramedian peaks and median notch of the upper lip vermilion. 2010-06-26T02:01:31Z UMLS:C2053435 Absent cupid's bow Agenesis of cupid's bow Failure of development of cupid's bow Lack of cupid's bow Missing cupid's bow human_phenotype Aplasia of cupid's bow HP:0010800 This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. Absent cupid's bow HP:0010800 Lack of paramedian peaks and median notch of the upper lip vermilion. PMID:19125428 Absent cupid's bow Agenesis of cupid's bow https://orcid.org/0000-0001-5889-4463 Failure of development of cupid's bow https://orcid.org/0000-0001-5889-4463 Lack of cupid's bow https://orcid.org/0000-0001-5889-4463 Missing cupid's bow https://orcid.org/0000-0001-5889-4463 Aplasia of cupid's bow https://orcid.org/0000-0001-5889-4463 Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). 2010-06-26T02:10:51Z UMLS:C4021227 Flat nasolabial fold Nasolabial crease, hypoplastic Nasolabial crease, underdeveloped Nasolabial fold, hypoplastic Shallow nasolabial fold human_phenotype HP:0010801 Underdeveloped nasolabial fold HP:0010801 Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). PMID:19125428 Flat nasolabial fold https://orcid.org/0000-0001-5889-4463 Shallow nasolabial fold https://orcid.org/0000-0001-5889-4463 Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. 2010-06-26T02:22:18Z UMLS:C4023699 Darkening of skin around the mouth Increased pigmentation around the mouth human_phenotype HP:0010802 Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. Perioral hyperpigmentation HP:0010802 Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips. PMID:19125428 Darkening of skin around the mouth https://orcid.org/0000-0001-5889-4463 Increased pigmentation around the mouth https://orcid.org/0000-0001-5889-4463 Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. 2010-06-26T02:30:13Z UMLS:C3275452 UMLS:C4023698 UMLS:C4280363 Eclabium of upper lip Everted prominent upper lip Everted upper lip Outward turned upper lip human_phenotype Drooping upper lip Protruding upper lip HP:0010803 In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. Everted upper lip vermilion HP:0010803 Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. PMID:19125428 https://orcid.org/0000-0002-0736-9199 Eclabium of upper lip https://orcid.org/0000-0001-5889-4463 Everted prominent upper lip https://orcid.org/0000-0001-5889-4463 Everted upper lip https://orcid.org/0000-0001-5889-4463 Outward turned upper lip https://orcid.org/0000-0001-5889-4463 Drooping upper lip https://orcid.org/0000-0001-5889-4463 Protruding upper lip https://orcid.org/0000-0001-5889-4463 Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. 2010-06-26T02:32:35Z HP:0100895 UMLS:C1839767 UMLS:C1850072 UMLS:C1853383 Inverted V-shaped upper lip human_phenotype Tented mouth Tented upper lip HP:0010804 This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. Tented upper lip vermilion HP:0010804 Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. PMID:19125428 Tented mouth Tented upper lip https://orcid.org/0000-0002-5316-1399 Oral commissures positioned superior to the midline labial fissure. 2010-06-26T03:17:08Z UMLS:C3553471 Upturned corners of mouth Upturned mouth Upturned oral commisures human_phenotype HP:0010805 This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. Upturned corners of mouth HP:0010805 Oral commissures positioned superior to the midline labial fissure. PMID:19125428 Upturned corners of mouth Upturned mouth https://orcid.org/0000-0001-5889-4463 Upturned oral commisures https://orcid.org/0000-0001-5889-4463 Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. 2010-06-26T03:25:01Z HP:0000186 UMLS:C1856202 Carp-like mouth Carp-shaped mouth Fish mouth Large, carp-shaped mouth Wide, carp-shaped mouth human_phenotype HP:0010806 The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). U-Shaped upper lip vermilion HP:0010806 Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. PMID:19125428 Carp-like mouth Carp-shaped mouth Fish mouth https://orcid.org/0000-0001-5889-4463 Large, carp-shaped mouth Wide, carp-shaped mouth Visible space between the dental arches in occlusion. 2010-07-02T09:30:43Z SNOMEDCT_US:35580009 UMLS:C0266061 Absence of overlap of upper and lower teeth Open bite Open bite between upper and lower teeth human_phenotype HP:0010807 An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. Open bite HP:0010807 Visible space between the dental arches in occlusion. PMID:19125428 Absence of overlap of upper and lower teeth https://orcid.org/0000-0001-5889-4463 Open bite Open bite between upper and lower teeth https://orcid.org/0000-0001-5889-4463 Tongue extending beyond the alveolar ridges or teeth at rest. 2010-07-02T09:38:37Z SNOMEDCT_US:249872000 SNOMEDCT_US:285503005 UMLS:C0241442 Lingual prolapse Lingual prominence Lingual protrusion Prolapse of tongue Prominent tongue Protruding tongue Tongue protrusion Tongue sticking out of mouth human_phenotype HP:0010808 Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. Protruding tongue HP:0010808 Tongue extending beyond the alveolar ridges or teeth at rest. PMID:19125428 Lingual prolapse https://orcid.org/0000-0001-5889-4463 Lingual prominence https://orcid.org/0000-0001-5889-4463 Lingual protrusion https://orcid.org/0000-0001-5889-4463 Prolapse of tongue https://orcid.org/0000-0001-5889-4463 Prominent tongue https://orcid.org/0000-0001-5889-4463 Protruding tongue Tongue sticking out of mouth https://orcid.org/0000-0001-5889-4463 Increased width of the uvula (subjective finding). 2010-07-05T10:22:01Z UMLS:C3693299 Wide uvula human_phenotype HP:0010809 This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. Broad uvula HP:0010809 Increased width of the uvula (subjective finding). PMID:19125428 Increased length of the uvula. 2010-07-05T10:23:52Z Hyperplasia of uvula UMLS:C4023697 UMLS:C4280362 Long palatine uvula human_phenotype Elongated uvula HP:0010810 In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. Long uvula HP:0010810 Increased length of the uvula. PMID:19125428 Hyperplasia of uvula https://orcid.org/0000-0001-5889-4463 Long palatine uvula https://orcid.org/0000-0001-5889-4463 Elongated uvula https://orcid.org/0000-0001-5889-4463 Decreased width of the uvula. 2010-07-05T10:25:14Z UMLS:C4023696 Narrow palatine uvula human_phenotype Thin uvula HP:0010811 Narrow uvula HP:0010811 Decreased width of the uvula. PMID:19125428 Narrow palatine uvula https://orcid.org/0000-0001-5889-4463 Thin uvula https://orcid.org/0000-0001-5889-4463 Decreased length of the uvula. 2010-07-05T10:26:47Z UMLS:C1401781 Hypoplastic uvula Short palatine uvula human_phenotype Blunt uvula HP:0010812 Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. Short uvula HP:0010812 Decreased length of the uvula. PMID:19125428 Short palatine uvula https://orcid.org/0000-0001-5889-4463 Blunt uvula https://orcid.org/0000-0001-5889-4463 More than two clockwise hair whorls. 2010-07-05T11:12:26Z UMLS:C4023695 Abnormal number of hair swirls Abnormal number of hair whorls Double crown (hair whorls) Extra hair swirls Extra hair whorl Supernumary hair swirls Supernumary hair whorl human_phenotype HP:0010813 Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. Abnormal number of hair whorls HP:0010813 More than two clockwise hair whorls. PMID:19125436 Abnormal number of hair swirls https://orcid.org/0000-0001-5889-4463 Abnormal number of hair whorls Double crown (hair whorls) https://orcid.org/0000-0001-5889-4463 Extra hair swirls https://orcid.org/0000-0001-5889-4463 Extra hair whorl https://orcid.org/0000-0001-5889-4463 Supernumary hair swirls https://orcid.org/0000-0001-5889-4463 Supernumary hair whorl https://orcid.org/0000-0001-5889-4463 Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. 2010-07-05T11:13:42Z UMLS:C4023694 Abnormal location of hair swirl Abnormal position of hair whorl human_phenotype HP:0010814 Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. Abnormal position of hair whorl HP:0010814 Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. PMID:19125436 Abnormal location of hair swirl https://orcid.org/0000-0001-5889-4463 Abnormal position of hair whorl A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. 2010-07-10T12:07:03Z SNOMEDCT_US:239112008 SNOMEDCT_US:52298009 SNOMEDCT_US:707136009 UMLS:C3854181 Naevus sebaceous Organoid nevus Sebaceous mole Sebaceous naevus Sebaceous nevus human_phenotype HP:0010815 Nevus sebaceous HP:0010815 A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. https://orcid.org/0000-0002-0736-9199 Sebaceous mole https://orcid.org/0000-0001-5208-3432 Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. 2010-07-10T12:12:32Z SNOMEDCT_US:239107007 SNOMEDCT_US:25201003 UMLS:C0334082 human_phenotype Epidermal nevi HP:0010816 Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematized epidermal naevus. Several other conditions are also characterized by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. Epidermal nevus HP:0010816 Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. PMID:20542174 https://orcid.org/0000-0002-0736-9199 A type of nevus sebaceous with a linear form, raised borders and yellowish color. 2010-07-10T12:17:17Z SNOMEDCT_US:239112008 SNOMEDCT_US:52298009 SNOMEDCT_US:707136009 UMLS:C3854181 human_phenotype HP:0010817 Linear nevus sebaceous HP:0010817 A type of nevus sebaceous with a linear form, raised borders and yellowish color. https://orcid.org/0000-0002-0736-9199 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. 2010-07-10T03:03:51Z HP:0002184 UMLS:C1836508 Generalised hypertonic seizure Generalised tonic seizure Generalised tonic seizures Generalized hypertonic seizure Generalized tonic seizures human_phenotype Hypertonic seizures HP:0010818 Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. Generalized tonic seizure HP:0010818 A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. HPO_CONTRIBUTOR:jalbers PMID:11580774 PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-0736-9199 Generalised tonic seizure Generalised tonic seizures Generalized tonic seizures Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. 2010-07-10T03:13:06Z HP:0002124 SNOMEDCT_US:189198006 SNOMEDCT_US:42365007 UMLS:C0270846 UMLS:C1836509 Astatic seizure Astatic seizures Atonic seizures Drop attacks Drop seizures Hypotonic seizure human_phenotype Hypotonic seizures Sudden loss of muscle tone HP:0010819 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding atonic seizures when the onset is not known. Atonic seizure HP:0010819 Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. HPO_CONTRIBUTOR:jalbers PMID:11580774 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-1735-8178 Astatic seizures Atonic seizures Drop seizures Hypotonic seizures Sudden loss of muscle tone Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. 2010-07-10T03:23:32Z UMLS:C4023693 Dacrystic seizure Dacrystic seizures human_phenotype HP:0010820 Crying is a rare feature of an epileptic seizure, and is more commonly a feature of a non-epileptic seizure. The word dacrystic is derived from the Greek word dakryon (tear). Focal emotional seizure with crying HP:0010820 Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present. PMID:28276060 PMID:993803 https://orcid.org/0000-0002-0736-9199 Dacrystic seizures Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. 2010-07-10T03:27:12Z SNOMEDCT_US:89525009 UMLS:C0270820 Gelastic seizure Gelastic seizures human_phenotype HP:0010821 This seizure type is characteristic of seizures arising in the hypothalamus (see hypothalamic hamartoma), but can occur in seizures arising in the frontal or temporal lobes. Focal emotional seizure with laughing HP:0010821 Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-0736-9199 Gelastic seizures A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. 2010-07-10T03:35:29Z SNOMEDCT_US:2228002 UMLS:C0235068 human_phenotype HP:0010822 Scintillating scotoma HP:0010822 A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights. https://orcid.org/0000-0002-0736-9199 An overlap of the bony plates of the skull in an infant, with or without early closure. 2010-07-10T03:46:25Z UMLS:C4023692 Cranial suture ridges human_phenotype HP:0010823 Ridged cranial sutures HP:0010823 An overlap of the bony plates of the skull in an infant, with or without early closure. https://orcid.org/0000-0002-0736-9199 Cranial suture ridges https://orcid.org/0000-0001-5889-4463 Any structural abnormality of the fifth cranial nerve. 2010-07-10T03:51:21Z UMLS:C4021226 Abnormal trigeminal nerve morphology Abnormality of the fifth cranial nerve Abnormality of the nervus trigeminus human_phenotype HP:0010824 Abnormal fifth cranial nerve morphology HP:0010824 Any structural abnormality of the fifth cranial nerve. https://orcid.org/0000-0002-0736-9199 Abnormality of the eleventh cranial nerve. 2010-07-10T03:54:53Z UMLS:C4021225 Abnormality of cranial nerve XI Abnormality of the accessory nerve human_phenotype HP:0010825 Abnormality of the eleventh cranial nerve HP:0010825 Abnormality of the eleventh cranial nerve. https://orcid.org/0000-0002-0736-9199 Abnormality of cranial nerve XI https://orcid.org/0000-0001-5208-3432 Abnormality of the twelfth cranial nerve. 2010-07-10T03:58:00Z UMLS:C4021224 Abnormality of cranial nerve 12 Abnormality of cranial nerve xii Abnormality of the hypoglossal nerve human_phenotype HP:0010826 Abnormality of the twelfth cranial nerve HP:0010826 Abnormality of the twelfth cranial nerve. https://orcid.org/0000-0002-0736-9199 Abnormality of cranial nerve 12 https://orcid.org/0000-0001-5889-4463 Abnormality of cranial nerve xii https://orcid.org/0000-0001-5889-4463 Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. 2010-07-10T04:04:55Z UMLS:C4021223 Abnormality of the facial nerve human_phenotype HP:0010827 Abnormal seventh cranial physiology HP:0010827 Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. https://orcid.org/0000-0002-0736-9199 Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. 2010-07-10T04:15:33Z SNOMEDCT_US:13753008 UMLS:C0278152 Spasms on one side of the face human_phenotype Hemifacial spasms HP:0010828 Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. Hemifacial spasm HP:0010828 Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. PMID:12145388 https://orcid.org/0000-0002-0736-9199 Spasms on one side of the face https://orcid.org/0000-0001-5208-3432 Hemifacial spasms https://orcid.org/0000-0002-5316-1399 A reduced ability to discriminate between different temperatures. 2010-07-10T07:08:10Z HP:0006901 HP:0100772 UMLS:C4021222 Abnormality of temperature sensation Impaired temperature sensation Impaired thermal sensitivity Loss of temperature sensation human_phenotype HP:0010829 Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. Impaired temperature sensation HP:0010829 A reduced ability to discriminate between different temperatures. https://orcid.org/0000-0002-0736-9199 Abnormality of temperature sensation Impaired temperature sensation Loss of temperature sensation A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. 2010-07-10T07:09:54Z UMLS:C4021221 Abnormal thigmesthesia Impaired touch sensation Loss of tactile sensation human_phenotype HP:0010830 Impaired tactile sensation HP:0010830 A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. https://orcid.org/0000-0002-0736-9199 Impaired touch sensation A loss or impairment of the sensation of the relative position of parts of the body and joint position. 2010-07-10T07:12:53Z HP:0010870 UMLS:C1856691 Abnormality of proprioception human_phenotype HP:0010831 Impaired proprioception HP:0010831 A loss or impairment of the sensation of the relative position of parts of the body and joint position. https://orcid.org/0000-0002-0736-9199 Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. 2010-07-10T07:15:58Z UMLS:C4023691 human_phenotype HP:0010832 Abnormality of pain sensation HP:0010832 Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. https://orcid.org/0000-0002-0736-9199 Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. 2010-07-10T07:19:19Z UMLS:C4023690 human_phenotype HP:0010833 Spontaneous pain sensation HP:0010833 Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. https://orcid.org/0000-0002-0736-9199 Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. 2010-07-10T07:23:26Z UMLS:C4021220 Trophic changes human_phenotype HP:0010834 Trophic changes related to pain HP:0010834 Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. https://orcid.org/0000-0002-0736-9199 A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. 2010-07-10T07:28:04Z SNOMEDCT_US:87275002 UMLS:C0278136 human_phenotype HP:0010835 Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. Dissociated sensory loss HP:0010835 A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of copper cation in the blood circulation. 2010-07-10T07:39:09Z UMLS:C4020766 UMLS:C4023689 Abnormal circulating copper concentration Abnormal copper cation level human_phenotype Abnormal copper levels HP:0010836 An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. Abnormal circulating copper concentration HP:0010836 Abnormal copper levels https://orcid.org/0000-0001-5208-3432 The concentration of ceruloplasmin in the blood circulation is below the lower limit of normal. 2010-07-10T07:39:36Z UMLS:C0240997 Decreased ceruloplasmin concentration Decreased ceruloplasmin level Decreased ceruloplasmin level in blood Decreased circulating ceruloplasmin concentration Decreased serum ceruloplasmin Decreased serum ceruloplasminA Hypoceruloplasminaemia Hypoceruloplasminemia Reduced ceruloplasmin concentration Reduced ceruloplasmin level Reduced ceruloplasmin level in blood human_phenotype HP:0010837 Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. Decreased circulating ceruloplasmin concentration HP:0010837 Decreased serum ceruloplasmin Hypoceruloplasminaemia An increased concentration of non ceruloplasmin bound copper in the blood. 2010-07-10T07:43:39Z UMLS:C1848459 human_phenotype HP:0010838 High nonceruloplasmin-bound serum copper HP:0010838 An increased concentration of non ceruloplasmin bound copper in the blood. https://orcid.org/0000-0002-0736-9199 An increased concentration of copper in the urine. 2010-07-10T07:44:50Z UMLS:C4023688 Increased urinary copper concentration human_phenotype HP:0010839 Increased urinary copper concentration HP:0010839 An increased concentration of copper in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary copper concentration true HP:0010840 An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). 2010-07-10T08:01:28Z UMLS:C4021219 Multifocal EEG abnormality human_phenotype HP:0010841 Multifocal epileptiform discharges HP:0010841 An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). https://orcid.org/0000-0002-0736-9199 true HP:0010842 Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). 2010-07-10T08:10:59Z UMLS:C4021218 EEG: focal slow activity EEG: localised slow activity EEG: localized slow activity human_phenotype HP:0010843 EEG with focal slow activity HP:0010843 Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy). https://orcid.org/0000-0002-0736-9199 EEG: localised slow activity Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-10T08:13:54Z UMLS:C4023687 human_phenotype HP:0010844 EEG with multifocal slow activity HP:0010844 Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HPO_CONTRIBUTOR:jalbers Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-10T08:15:05Z UMLS:C4021217 EEG with generalised slow activity EEG: generalised slow activity EEG: generalized slow activity human_phenotype HP:0010845 Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. EEG with generalized slow activity HP:0010845 Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 EEG with generalised slow activity EEG: generalised slow activity 2010-07-10T08:18:01Z UMLS:C4021216 EEG: persistent abnormal rhythmic activity human_phenotype HP:0010846 EEG with persistent abnormal rhythmic activity HP:0010846 The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). 2010-07-10T08:18:25Z UMLS:C4023686 Electroencephalogram demonstrated spike-slow wave discharges human_phenotype HP:0010847 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. EEG with spike-wave complexes (<2.5 Hz) HP:0010847 The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). 2010-07-10T08:21:13Z UMLS:C4023685 human_phenotype HP:0010848 EEG with spike-wave complexes (2.5-3.5 Hz) HP:0010848 The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). 2010-07-10T08:22:40Z HP:0007261 UMLS:C4020765 UMLS:C4023684 human_phenotype EEG with 3-4-Hz spike waves HP:0010849 EEG with spike-wave complexes (>3.5 Hz) HP:0010849 The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-10T08:23:28Z UMLS:C4023683 human_phenotype HP:0010850 EEG with spike-wave complexes HP:0010850 Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. 2010-07-11T08:02:41Z UMLS:C1969156 human_phenotype HP:0010851 Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation. EEG with burst suppression HP:0010851 The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. PMID:22323592 https://orcid.org/0000-0002-0736-9199 EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. 2010-07-11T08:10:17Z HP:0001330 UMLS:C3552821 Photoparoxysmal response on EEG human_phenotype HP:0010852 In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. EEG with photoparoxysmal response HP:0010852 EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. https://orcid.org/0000-0002-0736-9199 Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). 2010-07-11T08:25:02Z UMLS:C4021215 EEG: periodic lateralized epileptiform discharges human_phenotype HP:0010853 The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. EEG with periodic lateralized epileptiform discharges HP:0010853 Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). https://orcid.org/0000-0002-0736-9199 An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-11T08:34:13Z UMLS:C4021214 EEG with generalised low amplitude activity EEG: generalised low amplitude activity EEG: generalized low amplitude activity human_phenotype HP:0010854 EEG with generalized low amplitude activity HP:0010854 An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 EEG with generalised low amplitude activity EEG: generalised low amplitude activity An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-11T08:36:03Z UMLS:C4021213 EEG with localised low amplitude activity EEG: localised low amplitude activity EEG: localized low amplitude activity human_phenotype HP:0010855 EEG with localized low amplitude activity HP:0010855 An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 EEG with localised low amplitude activity EEG: localised low amplitude activity Periodically occurring generalized periodic complexes. 2010-07-11T08:38:52Z UMLS:C4021212 EEG: periodic complexes Radermecker complexes human_phenotype HP:0010856 EEG with periodic complexes HP:0010856 Periodically occurring generalized periodic complexes. HPO_CONTRIBUTOR:jalbers Periodically recurring abnormalities in the EEG. 2010-07-11T08:39:39Z UMLS:C4021211 EEG: periodic abnormalities human_phenotype HP:0010857 EEG with periodic abnormalities HP:0010857 Periodically recurring abnormalities in the EEG. https://orcid.org/0000-0002-0736-9199 Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2010-07-11T08:44:38Z UMLS:C4023682 human_phenotype HP:0010858 Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. EEG with hyperventilation-induced epileptiform discharges HP:0010858 Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). https://orcid.org/0000-0002-0736-9199 A kind of breech presentation in which the hips are flexed and the knees are extended. 2010-08-03T12:33:15Z SNOMEDCT_US:18559007 UMLS:C0233286 human_phenotype HP:0010859 Frank breech presentation HP:0010859 A kind of breech presentation in which the hips are flexed and the knees are extended. https://orcid.org/0000-0002-0736-9199 A kind of breech presentation in which the hips are flexed and the knees are flexed. 2010-08-03T12:34:30Z SNOMEDCT_US:49168004 UMLS:C0233283 human_phenotype HP:0010860 Complete breech presentation HP:0010860 A kind of breech presentation in which the hips are flexed and the knees are flexed. https://orcid.org/0000-0002-0736-9199 A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. 2010-08-03T12:34:57Z SNOMEDCT_US:38049006 UMLS:C0426146 human_phenotype HP:0010861 Incomplete breech presentation HP:0010861 A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal. https://orcid.org/0000-0002-0736-9199 A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. 2010-08-03T05:44:08Z UMLS:C4023681 human_phenotype HP:0010862 Delayed fine motor development HP:0010862 A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. https://orcid.org/0000-0002-0736-9199 A delay in the acquisition of the ability to understand the speech of others. 2010-08-03T06:02:52Z SNOMEDCT_US:229736005 UMLS:C0454642 human_phenotype HP:0010863 Receptive language delay HP:0010863 A delay in the acquisition of the ability to understand the speech of others. https://orcid.org/0000-0002-0736-9199 Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. 2010-08-03T06:29:35Z HP:0007196 SNOMEDCT_US:40700009 UMLS:C0036857 Early and severe mental retardation Intellectual disability, severe Mental retardation, severe Severe mental retardation human_phenotype HP:0010864 Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. Severe intellectual disability HP:0010864 Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. https://orcid.org/0000-0002-0736-9199 Early and severe mental retardation Intellectual disability, severe Mental retardation, severe Severe mental retardation An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. 2010-08-03T07:09:09Z SNOMEDCT_US:18941000 UMLS:C0029121 ODD human_phenotype HP:0010865 Oppositional defiant disorder is essentially a persistent pattern of tantrums, arguments, and angry or disruptive behavior that exceeds what can be considered normal. Oppositional defiant disorder HP:0010865 ODD An incomplete closure of the abdominal wall. 2010-08-03T09:55:15Z UMLS:C0238577 Abdominal wall defect Congenital anterior abdominal wall defect human_phenotype HP:0010866 Abdominal wall defect HP:0010866 An incomplete closure of the abdominal wall. https://orcid.org/0000-0002-0736-9199 Abdominal wall defect A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. 2010-08-18T01:17:10Z SNOMEDCT_US:20262006 SNOMEDCT_US:39384006 UMLS:C0004134 human_phenotype HP:0010867 Dyssynergia HP:0010867 A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. https://orcid.org/0000-0002-0736-9199 A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. 2010-08-18T01:20:05Z UMLS:C4023680 human_phenotype HP:0010868 Ocular dyssynergia HP:0010868 A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field. https://orcid.org/0000-0002-0736-9199 A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. 2010-08-18T01:39:38Z SNOMEDCT_US:77743009 UMLS:C0234355 human_phenotype HP:0010869 Asynergia HP:0010869 A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. https://orcid.org/0000-0002-0736-9199 true HP:0010870 Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. 2010-08-18T01:57:54Z SNOMEDCT_US:445458007 SNOMEDCT_US:69131009 UMLS:C0037921 UMLS:C0240991 Afferent ataxia Ataxia, sensory Spinal ataxia human_phenotype HP:0010871 Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. Sensory ataxia HP:0010871 Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. https://orcid.org/0000-0002-0736-9199 Ataxia, sensory https://orcid.org/0000-0002-5316-1399 An inversion of the T-wave (which is normally positive). 2010-08-25T03:29:13Z SNOMEDCT_US:59931005 UMLS:C0520888 EKG: T-wave inversion human_phenotype HP:0010872 T-wave inversion HP:0010872 An inversion of the T-wave (which is normally positive). https://orcid.org/0000-0002-0736-9199 Atrophy of the cervical segment of the spinal cord. 2010-08-25T03:41:38Z UMLS:C0742191 human_phenotype HP:0010873 Cervical spinal cord atrophy HP:0010873 Atrophy of the cervical segment of the spinal cord. https://orcid.org/0000-0002-0736-9199 The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). 2010-08-30T11:01:16Z SNOMEDCT_US:69880002 UMLS:C0221253 Tendon xanthomas human_phenotype HP:0010874 Tendon xanthomatosis HP:0010874 The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). https://orcid.org/0000-0002-0736-9199 A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. 2010-09-07T12:11:07Z SNOMEDCT_US:413813004 UMLS:C1531651 human_phenotype HP:0010875 Chaddock reflex HP:0010875 A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. https://orcid.org/0000-0002-0736-9199 An abnormal level of a circulating protein in the blood. 2010-09-07T01:51:12Z UMLS:C4020763 UMLS:C4020764 UMLS:C4023679 Abnormal circulating protein level Abnormality of circulating protein level human_phenotype Blood protein disease Serum protein abnormality HP:0010876 Abnormal circulating protein concentration HP:0010876 An abnormal level of a circulating protein in the blood. https://orcid.org/0000-0002-0736-9199 Blood protein disease A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. 2010-09-08T10:47:57Z UMLS:C4023678 Unilateral strabismus human_phenotype HP:0010877 Monocular strabismus HP:0010877 A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times. https://orcid.org/0000-0002-0736-9199 The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. 2010-09-13T08:02:26Z UMLS:C0948242 Foetal cystic hygroma human_phenotype HP:0010878 Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. Fetal cystic hygroma HP:0010878 The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. eMedicine:402757 https://orcid.org/0000-0002-0736-9199 Foetal cystic hygroma 2010-09-13T08:08:47Z UMLS:C4023677 human_phenotype HP:0010879 Postnatal cystic hygroma HP:0010879 Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). 2010-09-13T08:15:19Z UMLS:C4023676 human_phenotype HP:0010880 Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. Increased nuchal translucency HP:0010880 Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). PMID:12751779 PMID:15846173 PMID:28511453 https://orcid.org/0000-0002-0736-9199 An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. 2010-09-13T08:24:04Z SNOMEDCT_US:90009001 UMLS:C0266785 Umbilical cord issue human_phenotype HP:0010881 Abnormality of the umbilical cord HP:0010881 An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. https://orcid.org/0000-0002-0736-9199 Umbilical cord issue A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. 2010-09-20T11:08:09Z Fyler:1001 SNOMEDCT_US:204342004 SNOMEDCT_US:448564004 UMLS:C0242855 human_phenotype HP:0010882 Pulmonary valve atresia HP:0010882 A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. https://orcid.org/0000-0002-0736-9199 A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. 2010-09-20T11:09:46Z SNOMEDCT_US:51442005 UMLS:C0265843 Aortic atresia human_phenotype HP:0010883 Aortic valve atresia HP:0010883 A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. https://orcid.org/0000-0002-0736-9199 Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. 2010-09-20T11:17:40Z UMLS:C4023675 human_phenotype HP:0010884 Acromelia HP:0010884 Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. https://orcid.org/0000-0002-0736-9199 A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. 2010-09-24T10:11:05Z SNOMEDCT_US:240196003 SNOMEDCT_US:398199007 SNOMEDCT_US:72756009 UMLS:C0029445 UMLS:C0085660 UMLS:C0520474 UMLS:C0877326 Aseptic bone necrosis Aseptic necrosis Bone infarction Death of bone due to decreased blood supply Ischaemic bone necrosis Ischemic bone necrosis Osteochondronecrosis Osteonecrosis human_phenotype HP:0010885 The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. Avascular necrosis HP:0010885 A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. https://orcid.org/0009-0006-4530-3154 Death of bone due to decreased blood supply https://orcid.org/0000-0002-6548-5200 Ischaemic bone necrosis A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. 2010-09-24T10:15:07Z SNOMEDCT_US:82562007 UMLS:C0029421 Osteochondrosis dissecans human_phenotype HP:0010886 Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. Osteochondritis dissecans HP:0010886 A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. https://orcid.org/0009-0006-4530-3154 true HP:0010887 Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. 2010-09-25T11:04:19Z UMLS:C4023674 human_phenotype HP:0010888 Morbus Koehler HP:0010888 Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis. https://orcid.org/0009-0006-4530-3154 Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. 2010-09-25T11:04:19Z SNOMEDCT_US:360466009 SNOMEDCT_US:367356000 SNOMEDCT_US:84062004 UMLS:C0022682 Kienboeck's disease Kienböck's disease Lunatomalacia human_phenotype HP:0010889 Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. Morbus Kienboeck HP:0010889 Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum. https://orcid.org/0009-0006-4530-3154 Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. 2010-09-25T11:04:19Z SNOMEDCT_US:72047008 SNOMEDCT_US:79353000 UMLS:C0029376 Osgood Schlatter disease human_phenotype HP:0010890 Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where the patellar tendon inserts. Morbus Osgood-Schlatter HP:0010890 Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae. https://orcid.org/0009-0006-4530-3154 A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). 2010-09-25T11:04:19Z SNOMEDCT_US:53406005 UMLS:C0036310 Calve disease Juvenile osteochondrosis of the spine Scheuermann disease Scheuermann kyphosis Sherman's Disease human_phenotype HP:0010891 Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. Morbus Scheuermann HP:0010891 A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). https://orcid.org/0009-0006-4530-3154 Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. 2010-11-11T02:53:04Z UMLS:C4023673 human_phenotype HP:0010892 Abnormal circulating branched chain amino acid concentration HP:0010892 Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of phenylalanine in the blood circulation. 2010-11-11T03:23:30Z UMLS:C4023672 Abnormal circulating phenylalanine concentration Abnormal phenylalanine level Abnormality of phenylalanine metabolism human_phenotype HP:0010893 Abnormal circulating phenylalanine concentration HP:0010893 Any deviation from the normal concentration of serine family amino acid in the blood circulation. 2010-11-30T05:21:41Z UMLS:C4023671 Abnormal circulating serine family amino acid concentration Abnormal serine family amino acid level Abnormality of serine family amino acid metabolism human_phenotype HP:0010894 Abnormal circulating serine family amino acid concentration HP:0010894 Any deviation from the normal concentration of glycine in the blood circulation. 2010-11-30T05:27:24Z UMLS:C4023670 human_phenotype HP:0010895 Abnormal circulating glycine concentration HP:0010895 Any deviation from the normal concentration of glycine in the blood circulation. HPO_CONTRIBUTOR:gcarletti An elevated plasma concentration of sarcosine. 2010-11-30T05:38:24Z SNOMEDCT_US:64852002 UMLS:C0268563 High plasma sarcosine levels human_phenotype HP:0010896 Sarcosine is the N-methyl derivative of glycine. Hypersarcosinemia HP:0010896 An elevated plasma concentration of sarcosine. HPO_CONTRIBUTOR:gcarletti High plasma sarcosine levels https://orcid.org/0000-0001-5208-3432 An elevated urinary concentration of sarcosine. 2010-11-30T05:43:45Z UMLS:C4023669 High urine sarcosine levels human_phenotype HP:0010897 Hypersarcosinuria HP:0010897 An elevated urinary concentration of sarcosine. HPO_CONTRIBUTOR:gcarletti High urine sarcosine levels https://orcid.org/0000-0001-5208-3432 An deviation from the normal concentration of sarcosine in the blood circulation. 2010-11-30T05:44:10Z UMLS:C4023668 human_phenotype HP:0010898 Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation. Abnormal circulating sarcosine concentration HP:0010898 An deviation from the normal concentration of sarcosine in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. 2010-12-02T04:40:57Z UMLS:C4023667 human_phenotype HP:0010899 Abnormal circulating aspartate family amino acid concentration HP:0010899 Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of threonine in the blood circulation. 2010-12-02T04:42:19Z UMLS:C4023666 Abnormal circulating threonine concentration Abnormal threonine level Abnormality of threonine metabolism human_phenotype HP:0010900 Abnormal circulating threonine concentration HP:0010900 Any deviation from the normal concentration of methionine in the blood circulation. 2010-12-02T05:15:22Z UMLS:C4023665 Abnormality of methionine metabolism human_phenotype HP:0010901 Abnormal circulating methionine concentration HP:0010901 Any deviation from the normal concentration of methionine in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of glutamine family amino acid in the blood circulation. 2010-12-03T04:30:22Z UMLS:C4023664 Abnormal circulating glutamine family amino acid concentration Abnormal glutamine family amino acid level human_phenotype HP:0010902 Abnormal circulating glutamine family amino acid concentration HP:0010902 Any deviation from the normal concentration of glutamine in the blood circulation. 2010-12-03T04:31:22Z UMLS:C4023663 Abnormal circulating glutamine concentration Abnormal glutamine level human_phenotype HP:0010903 Glutamine is a charge-neutral, polar amino acid. Abnormal circulating glutamine concentration HP:0010903 Any deviation from the normal concentration of histidine in the blood circulation. 2010-12-08T07:13:56Z HP:0010905 UMLS:C4023662 Abnormal circulating histidine concentration Abnormal histidine level Abnormality of histidine metabolism human_phenotype HP:0010904 Abnormal circulating histidine concentration HP:0010904 HP:0010904 human_phenotype HP:0010905 obsolete Abnormality of histidine metabolism true HP:0010905 The concentration of histidine in the blood circulation is above the upper limit of normal. 2010-12-08T07:27:47Z SNOMEDCT_US:124628005 SNOMEDCT_US:410058007 UMLS:C0220992 Elevated histidine concentration Elevated histidine level Elevated histidine level in blood High blood histidine level Hyperhistidinemia Increased histidine concentration Increased histidine level Increased histidine level in blood human_phenotype Histidinemia HP:0010906 Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. Hyperhistidinemia HP:0010906 High blood histidine level https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of proline in the blood circulation. 2010-12-08T07:50:08Z UMLS:C4023661 Abnormal circulating proline concentration Abnormal proline level human_phenotype HP:0010907 Abnormal circulating proline concentration HP:0010907 Any deviation from the normal concentration of lysine in the blood circulation. 2010-12-08T08:05:55Z UMLS:C4023660 Abnormal circulating lysine concentration Abnormal lysine level Abnormality of lysine metabolism human_phenotype HP:0010908 Abnormal circulating lysine concentration HP:0010908 Any deviation from the normal concentration of arginine in the blood circulation. 2010-12-08T08:25:05Z UMLS:C4023659 Abnormal arginine level Abnormal circulating arginine concentration Abnormality of arginine metabolism human_phenotype HP:0010909 Arginine is a charged, aliphatic amino acid. Abnormal circulating arginine concentration HP:0010909 The concentration of valine in the blood circulation is above the upper limit of normal. 2010-12-08T08:44:27Z SNOMEDCT_US:47719001 UMLS:C0268573 Elevated valine concentration Elevated valine level Elevated valine level in blood High blood valine concentration Hypervalinemia Increased valine concentration Increased valine level Increased valine level in blood human_phenotype HP:0010910 Hypervalinemia HP:0010910 High blood valine concentration https://orcid.org/0000-0001-5208-3432 The concentration of leucine in the blood circulation is above the upper limit of normal. 2010-12-08T08:45:56Z SNOMEDCT_US:24013007 UMLS:C0268576 Elevated leucine concentration Elevated leucine level Elevated leucine level in blood High blood leucine concentration Hyperleucinemia Increased leucine concentration Increased leucine level Increased leucine level in blood human_phenotype HP:0010911 Normal leucine blood levels are around 120-160 micromole per liter. Hyperleucinemia HP:0010911 High blood leucine concentration https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of isoleucine in the blood circulation. 2010-12-08T08:47:47Z UMLS:C4023658 Abnormal circulating isoleucine concentration Abnormal isoleucine level human_phenotype HP:0010912 Abnormal circulating isoleucine concentration HP:0010912 The concentration of isoleucine in the blood circulation is above the upper limit of normal. 2010-12-08T08:49:42Z UMLS:C4023657 Elevated isoleucine concentration Elevated isoleucine level Elevated isoleucine level in blood High blood isoleucine concentration Hyperisoleucinemia Increased isoleucine concentration Increased isoleucine level Increased isoleucine level in blood human_phenotype HP:0010913 Normal isoleucine blood levels are around 60-80 micromole per liter. Hyperisoleucinemia HP:0010913 High blood isoleucine concentration https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of valine in the blood circulation. 2010-12-08T08:51:14Z UMLS:C4023656 Abnormal circulating valine concentration Abnormal valine level Abnormality of valine metabolism human_phenotype HP:0010914 Abnormal circulating valine concentration HP:0010914 Any deviation from the normal concentration of pyruvate family amino acid in the blood circulation. 2010-12-08T08:55:53Z UMLS:C4023655 Abnormal circulating pyruvate family amino acid concentration Abnormal pyruvate family amino acid level Abnormality of pyruvate family amino acid metabolism human_phenotype HP:0010915 Abnormal circulating pyruvate family amino acid concentration HP:0010915 An abnormality of an alanine metabolic process. 2010-12-08T08:57:53Z UMLS:C4023654 Abnormality of alanine metabolism human_phenotype HP:0010916 Abnormal circulating alanine concentration HP:0010916 An abnormality of an alanine metabolic process. HPO_CONTRIBUTOR:gcarletti Any deviation from the normal concentration of tyrosine in the blood circulation. 2010-12-08T09:13:53Z UMLS:C4023653 human_phenotype HP:0010917 Abnormal circulating tyrosine concentration HP:0010917 Any deviation from the normal concentration of tyrosine in the blood circulation. https://orcid.org/0000-0002-0736-9199 An abnormality of a cysteine metabolic process. 2010-12-11T11:45:39Z UMLS:C4023652 human_phenotype HP:0010918 Abnormal circulating cysteine concentration HP:0010918 An abnormality of a cysteine metabolic process. https://orcid.org/0000-0002-0736-9199 An abnormality of a homocysteine metabolic process. 2010-12-11T11:48:52Z UMLS:C4023651 human_phenotype HP:0010919 Abnormal circulating homocysteine concentration HP:0010919 An abnormality of a homocysteine metabolic process. https://orcid.org/0000-0002-0736-9199 Zonular cataracts are defined to be cataracts that affect specific regions of the lens. 2010-12-12T12:00:37Z HP:0007713 UMLS:C1861821 human_phenotype HP:0010920 Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. Zonular cataract HP:0010920 Zonular cataracts are defined to be cataracts that affect specific regions of the lens. HPO_CONTRIBUTOR:vkumar PMID:18035564 https://orcid.org/0000-0002-0736-9199 A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. 2010-12-12T12:16:28Z UMLS:C1392104 human_phenotype HP:0010921 Coralliform cataract HP:0010921 A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form. HPO_CONTRIBUTOR:vkumar https://orcid.org/0000-0002-0736-9199 A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. 2010-12-12T12:31:45Z UMLS:C0524524 human_phenotype HP:0010922 Membranous cataract HP:0010922 A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. PMID:17539799 https://orcid.org/0000-0002-0736-9199 A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. 2010-12-12T12:51:55Z SNOMEDCT_US:315352000 UMLS:C1112768 human_phenotype HP:0010923 Anterior subcapsular cataract HP:0010923 A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. https://orcid.org/0000-0002-0736-9199 A cataract that affects the posterior part of the cortex of the lens. 2010-12-12T12:55:36Z UMLS:C4023650 human_phenotype HP:0010924 Posterior cortical cataract HP:0010924 A cataract that affects the posterior part of the cortex of the lens. https://orcid.org/0000-0002-0736-9199 2010-12-12T04:26:25Z UMLS:C4023649 human_phenotype HP:0010925 Nuclear punctate cataract HP:0010925 A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. 2010-12-19T03:47:35Z UMLS:C1861832 Fasciculiform cataract Frosted cataract Needle-shaped cataract human_phenotype HP:0010926 This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. See Figure 1 of PMID:10521291. Aculeiform cataract HP:0010926 A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. PMID:10521291 PMID:9718335 https://orcid.org/0000-0002-0736-9199 An abnormality of divalent inorganic cation homeostasis. 2011-01-06T07:47:18Z UMLS:C4023648 Abnormality of divalent inorganic cation homeostasis human_phenotype HP:0010927 Abnormal circulating inorganic divalent cation concentration HP:0010927 An abnormality of divalent inorganic cation homeostasis. https://orcid.org/0000-0002-0736-9199 HP:0003218 human_phenotype HP:0010928 obsolete Increased urinary orotic acid concentration true HP:0010928 Any deviation from the normal concentration of inorganic cation in the blood circulation. 2011-01-06T10:36:04Z UMLS:C4023646 Abnormal blood cation concentration Abnormal inorganic cation level Abnormality of cation homeostasis human_phenotype HP:0010929 Abnormal circulating inorganic cation concentration HP:0010929 Any deviation from the normal concentration of monovalent inorganic cation in the blood circulation. 2011-01-06T10:38:38Z UMLS:C4023645 Abnormal blood monovalent inorganic cation concentration Abnormal monovalent inorganic cation level Abnormality of monovalent inorganic cation homeostasis human_phenotype HP:0010930 Abnormal circulating monovalent inorganic cation concentration HP:0010930 Any deviation from the normal concentration of sodium in the blood circulation. 2011-01-06T10:40:20Z UMLS:C4023644 Abnormal blood Na+ levels Abnormal blood sodium concentration Abnormal circulating Na concentration Abnormal sodium(1+) level Abnormality of sodium homeostasis human_phenotype HP:0010931 Abnormal circulating sodium concentration HP:0010931 Abnormal blood Na+ levels Abnormal circulating Na concentration An abnormality of a nucleobase metabolic process. 2011-01-06T10:46:17Z UMLS:C4020762 UMLS:C4023643 human_phenotype Abnormal nucleoside levels HP:0010932 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. Abnormal circulating nucleobase concentration HP:0010932 An abnormality of a nucleobase metabolic process. https://orcid.org/0000-0002-0736-9199 An increased level of xanthine in the blood circulation. 2011-01-10T07:53:26Z UMLS:C4023642 Increased circulating xanthine concentration human_phenotype HP:0010933 Xanthine is a purine base that is a product of purine degradation. Hyperxanthinemia HP:0010933 An increased level of xanthine in the blood circulation. PMID:9153281 https://orcid.org/0000-0002-0736-9199 An increased concentration of xanthine in the urine. 2011-01-10T07:55:12Z SNOMEDCT_US:190919008 SNOMEDCT_US:54627004 UMLS:C0220988 Increased urinary xanthine human_phenotype HP:0010934 Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. Xanthinuria HP:0010934 An increased concentration of xanthine in the urine. HPO_CONTRIBUTOR:gcarletti An abnormality of the upper urinary tract. 2011-01-16T11:37:29Z UMLS:C4023641 Abnormality of the upper urinary tract human_phenotype HP:0010935 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. Abnormality of the upper urinary tract HP:0010935 An abnormality of the upper urinary tract. https://orcid.org/0000-0002-0736-9199 Abnormality of the upper urinary tract An abnormality of the lower urinary tract. 2011-01-16T11:39:17Z UMLS:C4023640 human_phenotype HP:0010936 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. Abnormality of the lower urinary tract HP:0010936 An abnormality of the lower urinary tract. https://orcid.org/0000-0002-0736-9199 An abnormality of the nasal skeleton. 2011-01-16T02:19:38Z UMLS:C4023639 UMLS:C4280361 Abnormality of the nasal skeleton Anomaly of the nasal skeleton Deformity of the bones of the nose Deformity of the nasal skeleton Distortion of the bones of the nose Distortion of the nasal skeleton Malformation of the bones of the nose Malformation of the nasal skeleton human_phenotype HP:0010937 Abnormal nasal skeleton morphology HP:0010937 An abnormality of the nasal skeleton. https://orcid.org/0000-0002-0736-9199 Abnormality of the nasal skeleton Anomaly of the nasal skeleton https://orcid.org/0000-0001-5889-4463 Deformity of the bones of the nose https://orcid.org/0000-0001-5889-4463 Deformity of the nasal skeleton https://orcid.org/0000-0001-5889-4463 Distortion of the bones of the nose https://orcid.org/0000-0001-5889-4463 Distortion of the nasal skeleton https://orcid.org/0000-0001-5889-4463 Malformation of the bones of the nose https://orcid.org/0000-0001-5889-4463 Malformation of the nasal skeleton https://orcid.org/0000-0001-5889-4463 An abnormality of the external nose. 2011-01-16T02:21:10Z UMLS:C2164724 UMLS:C4023638 UMLS:C4280360 Abnormality of the external nose Anomaly of the external nose Deformity of the external nose Malformation of the external nose human_phenotype HP:0010938 Abnormal external nose morphology HP:0010938 An abnormality of the external nose. https://orcid.org/0000-0002-0736-9199 Abnormality of the external nose Anomaly of the external nose https://orcid.org/0000-0001-5889-4463 Deformity of the external nose https://orcid.org/0000-0001-5889-4463 Malformation of the external nose https://orcid.org/0000-0001-5889-4463 An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. 2011-01-16T02:28:45Z UMLS:C4023637 Abnormality of the nasal bone Anomaly of the nasal bones Deformity of the nasal bones Malformation of the nasal bones human_phenotype HP:0010939 Abnormal nasal bone morphology HP:0010939 An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. https://orcid.org/0000-0002-0736-9199 Abnormality of the nasal bone Anomaly of the nasal bones https://orcid.org/0000-0001-5889-4463 Deformity of the nasal bones https://orcid.org/0000-0001-5889-4463 Malformation of the nasal bones https://orcid.org/0000-0001-5889-4463 Absence or underdevelopment of the nasal bone. 2011-01-16T02:31:16Z UMLS:C4023636 human_phenotype HP:0010940 Aplasia/Hypoplasia of the nasal bone HP:0010940 Absence or underdevelopment of the nasal bone. https://orcid.org/0000-0002-0736-9199 Absence of the nasal bone. 2011-01-16T02:32:39Z SNOMEDCT_US:91900007 UMLS:C0339850 UMLS:C0339851 UMLS:C4023635 Failure of development of the nasal bone Lack of development of the nasal bone Absence of the nasal bone Agenesis of the nasal bone Missing nasal bone human_phenotype HP:0010941 Aplasia of the nasal bone HP:0010941 Absence of the nasal bone. https://orcid.org/0000-0002-0736-9199 Failure of development of the nasal bone https://orcid.org/0000-0001-5889-4463 Lack of development of the nasal bone https://orcid.org/0000-0001-5889-4463 Absence of the nasal bone https://orcid.org/0000-0001-5889-4463 Agenesis of the nasal bone https://orcid.org/0000-0001-5889-4463 Missing nasal bone https://orcid.org/0000-0001-5889-4463 A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. 2011-01-16T02:52:26Z UMLS:C4023634 human_phenotype HP:0010942 An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. Echogenic intracardiac focus HP:0010942 A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart. PMID:16100637 PMID:9527573 https://orcid.org/0000-0002-0736-9199 Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. 2011-01-16T03:04:36Z UMLS:C2936423 Echogenic bowel Echogenic foetal bowel Hyperechogenic fetal bowel Hyperechogenic foetal bowel Prenatal ultrasound: hyperechogenic bowel human_phenotype HP:0010943 Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. Echogenic fetal bowel HP:0010943 Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. PMID:16100637 PMID:20175047 https://orcid.org/0000-0002-0736-9199 Echogenic foetal bowel Hyperechogenic foetal bowel An abnormality of the renal pelvis. 2011-01-16T03:33:55Z UMLS:C4023633 Abnormality of the renal pelvis human_phenotype HP:0010944 Abnormal renal pelvis morphology HP:0010944 An abnormality of the renal pelvis. https://orcid.org/0000-0002-0736-9199 Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. 2011-01-16T03:36:31Z SNOMEDCT_US:430035004 UMLS:C2317073 Fetal renal pelvic dilatation Foetal pyelectasis Foetal renal pelvic dilatation Mild fetal hydronephrosis Mild foetal hydronephrosis human_phenotype HP:0010945 The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (PMID:16100637). Fetal pyelectasis HP:0010945 Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. PMID:16100637 https://orcid.org/0000-0002-0736-9199 Foetal pyelectasis Foetal renal pelvic dilatation Mild foetal hydronephrosis The presence of dilatation of the renal pelvis. 2011-01-16T03:39:20Z UMLS:C1868864 human_phenotype HP:0010946 Dilatation of the renal pelvis HP:0010946 The presence of dilatation of the renal pelvis. https://orcid.org/0000-0002-0736-9199 A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. 2011-01-16T03:50:45Z UMLS:C4023632 human_phenotype HP:0010947 The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. Abnormality of ductus venosus blood flow HP:0010947 A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus. PMID:16449256 PMID:21048453 https://orcid.org/0000-0002-0736-9199 A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2011-01-16T03:53:44Z UMLS:C4021210 Abnormality of the fetal cardiovascular system Abnormality of the fetal circulation system Abnormality of the foetal cardiovascular system Abnormality of the foetal circulation system human_phenotype HP:0010948 Abnormal fetal cardiovascular morphology HP:0010948 A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Abnormality of the foetal cardiovascular system Abnormality of the foetal circulation system A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. 2011-01-16T04:15:43Z UMLS:C4023631 human_phenotype HP:0010949 Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. Abnormality of umbilical vein blood flow HP:0010949 A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein. https://orcid.org/0000-0002-0736-9199 An abnormality of the fourth ventricle. 2011-01-17T12:58:00Z UMLS:C4023630 Abnormality of the fourth ventricle human_phenotype HP:0010950 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. Abnormal fourth ventricle morphology HP:0010950 An abnormality of the fourth ventricle. https://orcid.org/0000-0002-0736-9199 An abnormality of the third ventricle. 2011-01-17T01:00:31Z UMLS:C4023629 Abnormality of the third ventricle human_phenotype HP:0010951 The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. Abnormal third ventricle morphology HP:0010951 An abnormality of the third ventricle. https://orcid.org/0000-0002-0736-9199 A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). 2011-01-17T01:36:57Z UMLS:C4023628 Mild foetal ventriculomegaly human_phenotype HP:0010952 A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. Mild fetal ventriculomegaly HP:0010952 A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-0736-9199 Mild foetal ventriculomegaly A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. 2011-01-17T02:22:26Z SNOMEDCT_US:230746009 SNOMEDCT_US:82346000 UMLS:C0549423 human_phenotype HP:0010953 The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. Noncommunicating hydrocephalus HP:0010953 A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. eMedicine:1135286 https://orcid.org/0000-0002-0736-9199 Underdevelopment of the right ventricle. 2011-01-17T03:31:37Z SNOMEDCT_US:268180007 SNOMEDCT_US:39589002 UMLS:C0265856 UMLS:C0344963 Hypoplastic right heart syndrome Underdeveloped right heart human_phenotype HP:0010954 Hypoplastic right ventricle generally occurs as part of the Hypoplastic right heart syndrome (HRHS), which causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. Hypoplastic right ventricle HP:0010954 Underdevelopment of the right ventricle. PMID:30289599 https://orcid.org/0000-0002-0736-9199 Hypoplastic right heart syndrome https://orcid.org/0000-0001-6908-9849 Underdeveloped right heart https://orcid.org/0000-0001-6908-9849 The presence of a dilated urinary bladder. 2011-01-18T10:42:26Z UMLS:C0549253 human_phenotype HP:0010955 Dilatation of the bladder HP:0010955 The presence of a dilated urinary bladder. https://orcid.org/0000-0002-0736-9199 Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. 2011-01-18T10:43:58Z UMLS:C2931117 Foetal megacystis human_phenotype HP:0010956 Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. Fetal megacystis HP:0010956 Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. PMID:20837325 https://orcid.org/0000-0002-0736-9199 Foetal megacystis A developmental defect resulting in an obstructing membrane in the posterior male urethra. 2011-01-18T10:51:22Z SNOMEDCT_US:253900005 UMLS:C0238506 COPUM Congenital obstructing posterior urethral membranes Posterior urethral valve human_phenotype Posterior urethral valves HP:0010957 Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). Congenital posterior urethral valve HP:0010957 A developmental defect resulting in an obstructing membrane in the posterior male urethra. eMedicine:1016086 https://orcid.org/0000-0002-0736-9199 COPUM Posterior urethral valves https://orcid.org/0000-0002-5316-1399 A bilateral form of agenesis of the kidney. 2011-01-18T11:42:58Z SNOMEDCT_US:41962002 UMLS:C1609433 human_phenotype HP:0010958 Bilateral renal agenesis HP:0010958 A bilateral form of agenesis of the kidney. https://orcid.org/0000-0002-0736-9199 Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. 2011-01-18T11:56:02Z HP:0006540 HP:0006545 SNOMEDCT_US:111318005 UMLS:C0010668 CCAM Congenital cystic adenomatoid malformation Congenital cystic adenomatoid malformation of the lung Congenital cystic disease of the lung Cystic adenomatoid lung disease human_phenotype HP:0010959 The term CPAM has been recommended as being preferable to the term congenital cystic adenomatoid malformation, since the lesions are cystic or adenomatoid in only a limited number of cases. Only three types of CPAMs are distinguished at imaging: large cyst CPAM (type I) and small cyst CPAM (type II), which constitute macrocystic CPAMs; and microcystic or solid type (type III) lesions, which have cysts that are smaller than 5 mm in diameter, with no discernible cystic spaces. Congenital pulmonary airway malformation HP:0010959 Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. PMID:28638495 https://orcid.org/0000-0002-0736-9199 CCAM HP:0100632 2011-01-18T12:28:51Z human_phenotype HP:0010960 obsolete Bronchopulmonary sequestration true HP:0010960 HP:0011278 2011-01-18T12:34:14Z human_phenotype HP:0010961 obsolete Intralobar sequestration true HP:0010961 HP:0006544 2011-01-18T12:36:55Z human_phenotype HP:0010962 obsolete Extralobar sequestration true HP:0010962 By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. 2011-01-18T12:45:41Z UMLS:C4023625 Absence of stomach bubble on foetal sonography Absent stomach bubble Non-visualisation of the fetal stomach Non-visualisation of the foetal stomach human_phenotype HP:0010963 The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. Absence of stomach bubble on fetal sonography HP:0010963 By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. PMID:20538709 https://orcid.org/0000-0002-0736-9199 Absence of stomach bubble on foetal sonography Non-visualisation of the foetal stomach Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. 2011-01-27T08:05:00Z UMLS:C4023624 human_phenotype HP:0010964 A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. Abnormal circulating long-chain fatty-acid concentration HP:0010964 Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of phytanic acid in the blood circulation. 2011-01-27T08:07:48Z UMLS:C4023623 Abnormal circulating phytanic acid level human_phenotype HP:0010965 Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. Abnormal circulating phytanic acid concentration HP:0010965 Any deviation from the normal concentration of phytanic acid in the blood circulation. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of fatty acid anion in the blood circulation. 2011-01-27T09:17:48Z UMLS:C4021209 Abnormal circulating fatty acid anion concentration Abnormal fatty acid anion level Abnormality of fatty acid anion human_phenotype HP:0010966 A fatty acid anion is the conjugate base of a fatty acid. Abnormal circulating fatty acid anion concentration HP:0010966 Any deviation from the normal concentration of carnitine in the blood circulation. 2011-01-27T09:19:42Z UMLS:C4020761 UMLS:C4021855 human_phenotype Carnitine levels abnormal HP:0010967 L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation. Abnormal circulating carnitine concentration HP:0010967 Any deviation from the normal concentration of carnitine in the blood circulation. HPO_CONTRIBUTOR:gcarletti An abnormality of liposaccharide metabolism. 2011-01-27T09:22:56Z UMLS:C4023622 human_phenotype HP:0010968 Abnormality of liposaccharide metabolism HP:0010968 An abnormality of liposaccharide metabolism. https://orcid.org/0000-0002-0736-9199 An abnormality of glycolipid metabolism. 2011-01-27T09:25:31Z UMLS:C4023621 human_phenotype HP:0010969 Abnormality of glycolipid metabolism HP:0010969 An abnormality of glycolipid metabolism. https://orcid.org/0000-0002-0736-9199 An abnormality of an erythrocyte cell surface molecule. 2011-02-06T12:37:33Z UMLS:C4023620 human_phenotype HP:0010970 During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. Blood group antigen abnormality HP:0010970 An abnormality of an erythrocyte cell surface molecule. https://orcid.org/0000-0002-0736-9199 Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. 2011-02-06T12:40:21Z UMLS:C4023619 human_phenotype HP:0010971 Absence of Lutheran antigen on erythrocytes HP:0010971 Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. https://orcid.org/0000-0002-0736-9199 A kind of anemia characterized by inadequate production of erythrocytes. 2011-02-06T02:24:54Z HP:0005501 HP:0005504 HP:0005553 SNOMEDCT_US:70730006 UMLS:C0392708 UMLS:C0678199 Anaemia of inadequate production Anemia, dyserythropoietic Defective erythropoiesis Dyserythropoietic anaemia Dyserythropoietic anemia Ineffective erythropoiesis human_phenotype HP:0010972 Anemia of inadequate production HP:0010972 A kind of anemia characterized by inadequate production of erythrocytes. https://orcid.org/0000-0002-0736-9199 Anaemia of inadequate production Dyserythropoietic anaemia true HP:0010973 An abnormality of myeloid leukocytes. 2011-02-06T09:24:46Z UMLS:C4023618 Abnormality of myeloid leukocytes human_phenotype HP:0010974 A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. Abnormal myeloid leukocyte morphology HP:0010974 An abnormality of myeloid leukocytes. https://orcid.org/0000-0002-0736-9199 The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group. 2011-02-06T09:38:18Z HP:0025806 UMLS:C4021208 Abnormal B cell count Abnormal number of B cells Abnormal numbers of B cells Abnormality of B cell count Abnormality of B cell numbers human_phenotype HP:0010975 B cells are commonly characterized as CD19+ or CD20+ lymphocytes. Abnormal total B cell count HP:0010975 The absolute number of B cells in the blood, per microlitre is outside the limits of normal of the reference range for the appropriate sex and age-group. MP:0002458 https://orcid.org/0000-0002-0736-9199 Abnormal number of B cells https://orcid.org/0000-0002-5316-1399 Abnormal numbers of B cells https://orcid.org/0000-0002-5316-1399 The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. 2011-02-06T09:44:11Z HP:0002856 HP:0002956 HP:0005365 HP:0030251 UMLS:C1855067 B cell deficiency B cell lymphopenia B lymphocytopenia Decreased B cell count Low B cell count Reduction in B cell number CD19 lymphocytes low human_phenotype HP:0010976 Plasma B cells differentiate from B cells and secrete large amounts of antibodies. Decreased total B cell count HP:0010976 The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. PMID:32569607 https://orcid.org/0000-0002-0736-9199 Low B cell count An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. 2011-02-06T10:31:46Z UMLS:C4023617 human_phenotype HP:0010977 Abnormal phagocytosis HP:0010977 An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation. PMID:28691037 https://orcid.org/0000-0002-0736-9199 A functional abnormality of the immune system. 2011-02-07T04:28:55Z UMLS:C4023616 human_phenotype HP:0010978 Abnormality of immune system physiology HP:0010978 A functional abnormality of the immune system. MP:0001790 https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of lipoprotein cholesterol in the blood circulation. 2011-02-07T09:47:29Z UMLS:C4023615 Abnormal circulating lipoprotein cholesterol concentration Abnormal lipoprotein cholesterol level Abnormality of the level of lipoprotein cholesterol human_phenotype HP:0010979 Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. Abnormal circulating lipoprotein cholesterol concentration HP:0010979 An abnormal increase in the level of lipoprotein cholesterol in the blood. 2011-02-07T10:56:30Z SNOMEDCT_US:3744001 UMLS:C0020476 human_phenotype HP:0010980 Hyperlipoproteinemia HP:0010980 An abnormal increase in the level of lipoprotein cholesterol in the blood. https://orcid.org/0000-0002-0736-9199 An abnormal decrease in the level of lipoprotein cholesterol in the blood. 2011-02-07T11:01:50Z SNOMEDCT_US:267436001 SNOMEDCT_US:363140000 UMLS:C0020623 Lack of fat in blood human_phenotype HP:0010981 Hypolipoproteinemia HP:0010981 Lack of fat in blood https://orcid.org/0000-0001-5208-3432 A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. 2011-02-08T10:12:39Z UMLS:C1148552 human_phenotype Common, complex disease Complex disease Multifactorial inheritance HP:0010982 Polygenic inheritance HP:0010982 A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. ISBN:978-0192628961 https://orcid.org/0000-0002-0736-9199 A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. 2011-02-08T10:13:16Z UMLS:C1136026 human_phenotype HP:0010983 Oligogenic inheritance HP:0010983 A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. ISBN:978-0192628961 https://orcid.org/0000-0002-0736-9199 A type of multifactorial inheritance governed by the simultaneous action of two gene loci. 2011-02-08T10:13:54Z UMLS:C4023614 human_phenotype HP:0010984 Digenic inheritance HP:0010984 A type of multifactorial inheritance governed by the simultaneous action of two gene loci. ISBN:978-0192628961 https://orcid.org/0000-0002-0736-9199 HP:0000005 2011-02-08T10:16:28Z human_phenotype HP:0010985 obsolete Gonosomal inheritance true HP:0010985 true HP:0010986 An abnormality of the morphology or counts of the cells that make up the immune system. 2011-02-08T12:49:47Z UMLS:C4023612 human_phenotype HP:0010987 Abnormal cellular immune system morphology HP:0010987 An abnormality of the morphology or counts of the cells that make up the immune system. https://orcid.org/0000-0002-0736-9199 An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. 2011-02-08T01:59:22Z UMLS:C4023611 human_phenotype HP:0010988 The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. Abnormality of the extrinsic pathway HP:0010988 An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. https://orcid.org/0000-0002-0736-9199 An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. 2011-02-08T04:26:55Z UMLS:C4023610 human_phenotype HP:0010989 The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. Abnormality of the intrinsic pathway HP:0010989 An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. https://orcid.org/0000-0002-0736-9199 An abnormality of blood coagulation, common pathway. 2011-02-08T04:31:53Z UMLS:C4023609 human_phenotype HP:0010990 The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. Abnormality of the common coagulation pathway HP:0010990 An abnormality of blood coagulation, common pathway. https://orcid.org/0000-0002-0736-9199 An abnormality of the abdominal musculature. 2011-02-09T08:05:11Z UMLS:C4023608 Abnormality of the abdominal musculature human_phenotype HP:0010991 Abnormal morphology of the abdominal musculature HP:0010991 An abnormality of the abdominal musculature. https://orcid.org/0000-0002-0736-9199 Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. 2011-02-09T12:13:46Z SNOMEDCT_US:22220005 UMLS:C0042025 human_phenotype HP:0010992 Stress urinary incontinence HP:0010992 Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. PMID:12559262 https://orcid.org/0000-0002-0736-9199 An abnormality of the cerebral subcortex. 2011-02-09T10:32:54Z UMLS:C4021207 Abnormality of the cerebral medulla Abnormality of the cerebral subcortex human_phenotype HP:0010993 The cerebral subcortex contains the basal ganglia and the cerebral white matter. Abnormal cerebral subcortex morphology HP:0010993 An abnormality of the cerebral subcortex. https://orcid.org/0000-0002-0736-9199 Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. 2011-02-10T08:31:42Z UMLS:C4023607 Abnormality of the neostriatum Abnormality of the striate nucleus Abnormality of the striatum human_phenotype HP:0010994 The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei. Abnormal corpus striatum morphology HP:0010994 Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. PMID:21469956 https://orcid.org/0000-0002-0736-9199 Abnormality of the neostriatum https://orcid.org/0000-0001-6908-9849 Abnormality of the striate nucleus https://orcid.org/0000-0001-6908-9849 Any deviation from the normal concentration of dicarboxylic acid in the blood circulation. 2011-02-10T02:01:02Z UMLS:C4023606 Abnormal circulating dicarboxylic acid concentration Abnormal dicarboxylic acid level human_phenotype HP:0010995 A dicarboxylic acid is an oxoacid containing two carboxy groups. Abnormal circulating dicarboxylic acid concentration HP:0010995 Any deviation from the normal concentration of monocarboxylic acid in the blood circulation. 2011-02-10T02:20:42Z UMLS:C4023605 Abnormal circulating monocarboxylic acid concentration Abnormal monocarboxylic acid level human_phenotype HP:0010996 Abnormal circulating monocarboxylic acid concentration HP:0010996 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. 2011-02-10T06:10:33Z UMLS:C4021206 Chromosomal breakage induced by ionising radiation Increased cellular radiosensitivity Radiation-induced chromosome instability human_phenotype HP:0010997 Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. Chromosomal breakage induced by ionizing radiation HP:0010997 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. PMID:16814619 https://orcid.org/0009-0006-4530-3154 Chromosomal breakage induced by ionising radiation An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. 2011-02-10T06:14:16Z UMLS:C4023604 human_phenotype HP:0010998 Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. Increased susceptibility to spontaneous sister chromatid exchange HP:0010998 An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells. https://orcid.org/0009-0006-4530-3154 2011-02-13T11:28:03Z UMLS:C4023603 Absent optic tract human_phenotype HP:0010999 Aplasia of the optic tract HP:0010999 Absent optic tract https://orcid.org/0000-0001-5208-3432 2011-02-13T11:28:43Z UMLS:C4023602 Absent/small optic tract Absent/underdeveloped optic tract human_phenotype HP:0011000 Aplasia/Hypoplasia of the optic tract HP:0011000 Absent/small optic tract https://orcid.org/0000-0001-6908-9849 Absent/underdeveloped optic tract https://orcid.org/0000-0001-5208-3432 An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. 2011-02-13T11:57:32Z HP:0002796 HP:0004350 HP:0005711 HP:0005741 HP:0010738 SNOMEDCT_US:49347007 UMLS:C0029464 Increased bone density Increased bone mineral density Osteosclerosis Osteosclerosis of bones human_phenotype HP:0011001 This term may be merged with Increased bone density in the future or made obsolete. Increased bone mineral density HP:0011001 An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. https://orcid.org/0000-0002-0736-9199 Increased bone density Increased bone mineral density Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. 2011-02-13T11:58:36Z SNOMEDCT_US:1926006 SNOMEDCT_US:367489004 UMLS:C0029454 Harder, denser, fracture-prone bones human_phenotype Albers-Schoenberg disease Albers-Schonberg disease Albers-Schönberg disease Marble bone disease HP:0011002 Osteopetrosis HP:0011002 Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. https://orcid.org/0000-0002-0736-9199 Harder, denser, fracture-prone bones https://orcid.org/0000-0002-6548-5200 A severe form of myopia with greater than -6.00 diopters. 2011-02-13T12:56:48Z HP:0000569 SNOMEDCT_US:34187009 UMLS:C0271183 Severe myopia Severe myopia (> -6.00 diopters) Severe near sightedness Severely close sighted Severely near sighted human_phenotype HP:0011003 High myopia HP:0011003 A severe form of myopia with greater than -6.00 diopters. HPO_CONTRIBUTOR:DDD_ncarter Severe near sightedness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Severely close sighted https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Severely near sighted https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. 2011-02-16T08:46:49Z HP:0002620 HP:0005114 Fyler:2600 SNOMEDCT_US:234119001 UMLS:C0151489 UMLS:C4021205 Abnormal systemic artery morphology Abnormality of the systemic arterial tree Systemic artery abnormality human_phenotype Arterial abnormalities HP:0011004 Abnormal systemic arterial morphology HP:0011004 An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. https://orcid.org/0000-0002-0736-9199 A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. 2011-02-17T09:01:14Z UMLS:C1392669 human_phenotype HP:0011005 In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. Mixed cirrhosis HP:0011005 A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes. https://orcid.org/0000-0002-0736-9199 An abnormality of the neck musculature. 2011-02-19T11:15:01Z UMLS:C4023601 Abnormality of cervical musculature Abnormality of the musculature of the neck Neck muscle issue human_phenotype HP:0011006 Abnormal morphology of the musculature of the neck HP:0011006 An abnormality of the neck musculature. https://orcid.org/0000-0002-0736-9199 Abnormality of cervical musculature https://orcid.org/0000-0001-5889-4463 Abnormality of the musculature of the neck Neck muscle issue true HP:0011007 The speed at which disease manifestations appear and develop. 2011-02-20T10:22:32Z UMLS:C4021204 Speed of onset human_phenotype HP:0011008 Temporal pattern HP:0011008 The speed at which disease manifestations appear and develop. https://orcid.org/0000-0002-0736-9199 Sudden appearance of disease manifestations over a short period of time. 2011-02-20T10:23:18Z SNOMEDCT_US:272118002 UMLS:C0205178 Acute onset human_phenotype HP:0011009 The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days. Acute HP:0011009 Sudden appearance of disease manifestations over a short period of time. https://orcid.org/0000-0002-0736-9199 Slow, creeping onset, slow progress and long continuance of disease manifestations. 2011-02-20T10:25:55Z SNOMEDCT_US:90734009 UMLS:C0205191 Chronic human_phenotype HP:0011010 According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. Chronic HP:0011010 Slow, creeping onset, slow progress and long continuance of disease manifestations. https://orcid.org/0000-0002-0736-9199 Chronic Somewhat rapid onset and change of disease manifestations. 2011-02-20T10:27:54Z SNOMEDCT_US:19939008 UMLS:C0205365 human_phenotype HP:0011011 Subacute is between acute and chronic. Subacute HP:0011011 Somewhat rapid onset and change of disease manifestations. https://orcid.org/0000-0002-0736-9199 A deviation from the normal concentration of a polysaccharide in the blood circulation. 2011-02-21T09:46:11Z UMLS:C4023600 human_phenotype HP:0011012 Abnormal circulating polysaccharide concentration HP:0011012 A deviation from the normal concentration of a polysaccharide in the blood circulation. https://orcid.org/0000-0002-0736-9199 A deviation from the normal concentration of a carbohydrate in the blood circulation. 2011-02-21T09:47:27Z HP:0004366 UMLS:C4023599 human_phenotype HP:0011013 An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. Abnormal circulating carbohydrate concentration HP:0011013 A deviation from the normal concentration of a carbohydrate in the blood circulation. https://orcid.org/0000-0002-0736-9199 Abnormality of glucose homeostasis. 2011-02-21T10:37:21Z UMLS:C4023598 human_phenotype HP:0011014 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. Abnormal glucose homeostasis HP:0011014 Abnormality of glucose homeostasis. https://orcid.org/0000-0002-0736-9199 An abnormality of the concentration of glucose in the blood. 2011-02-21T10:41:13Z UMLS:C4023597 Abnormality of blood glucose concentration human_phenotype HP:0011015 Abnormal blood glucose concentration HP:0011015 An abnormality of the concentration of glucose in the blood. https://orcid.org/0000-0002-0736-9199 HP:0003076 2011-02-21T11:09:32Z human_phenotype HP:0011016 obsolete Abnormality of urine glucose concentration true HP:0011016 An abnormality in a cellular process. 2011-02-22T07:05:50Z HP:0025462 UMLS:C4023595 Abnormality of cell physiology human_phenotype HP:0011017 Abnormal cellular physiology HP:0011017 An abnormality in a cellular process. https://orcid.org/0000-0002-0736-9199 An abnormality of the cell cycle. 2011-02-22T07:09:31Z UMLS:C4023594 Abnormality of the cell cycle human_phenotype HP:0011018 Abnormality of the cell cycle HP:0011018 An abnormality of the cell cycle. https://orcid.org/0000-0002-0736-9199 Abnormality of the cell cycle An abnormality of chromosome condensation. 2011-02-22T07:19:30Z UMLS:C4023593 human_phenotype HP:0011019 Abnormality of chromosome condensation HP:0011019 An abnormality of chromosome condensation. https://orcid.org/0000-0002-0736-9199 An abnormality of the metabolism of mucopolysaccharide. 2011-02-23T07:58:02Z UMLS:C4023592 human_phenotype HP:0011020 Abnormality of mucopolysaccharide metabolism HP:0011020 An abnormality of the metabolism of mucopolysaccharide. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of an enzyme in the blood circulation. 2011-02-28T08:46:34Z UMLS:C4023591 Abnormality of circulating enzyme level human_phenotype HP:0011021 Abnormal circulating enzyme concentration HP:0011021 Any deviation from the normal concentration of unsaturated fatty acid in the blood circulation. 2011-02-28T09:04:58Z UMLS:C4023590 Abnormal circulating unsaturated fatty acid concentration Abnormal unsaturated fatty acid level human_phenotype HP:0011022 Abnormal circulating unsaturated fatty acid concentration HP:0011022 Any deviation from the normal concentration of prostaglandin in the blood circulation. 2011-02-28T09:19:20Z UMLS:C4023589 Abnormal circulating prostaglandin circulation Abnormal prostaglandin level human_phenotype HP:0011023 Abnormal circulating prostaglandin concentration HP:0011023 An abnormality of the gastrointestinal tract. 2011-03-01T07:52:06Z SNOMEDCT_US:119292006 SNOMEDCT_US:25374005 SNOMEDCT_US:53619000 UMLS:C0012242 UMLS:C0017178 UMLS:C4023588 Abnormality of the GI tract Abnormality of the gastrointestinal tract human_phenotype Digestive system disease Gastrointestinal disease HP:0011024 Abnormality of the gastrointestinal tract HP:0011024 An abnormality of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 Abnormality of the GI tract Abnormality of the gastrointestinal tract Digestive system disease Gastrointestinal disease Abnormal functionality of the cardiovascular system. 2011-03-03T10:23:19Z UMLS:C4023587 Abnormality of cardiovascular system physiology human_phenotype HP:0011025 Abnormal cardiovascular system physiology HP:0011025 Abnormal functionality of the cardiovascular system. https://orcid.org/0000-0002-0736-9199 Aplasia or developmental hypoplasia of the vagina. 2011-03-02T06:17:46Z UMLS:C4023586 Absent/small vagina Absent/underdeveloped vagina human_phenotype HP:0011026 Aplasia/Hypoplasia of the vagina HP:0011026 Aplasia or developmental hypoplasia of the vagina. https://orcid.org/0000-0002-0736-9199 Absent/small vagina https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped vagina https://orcid.org/0000-0001-5208-3432 An abnormality of the fallopian tube. 2011-03-02T06:36:01Z UMLS:C0281842 Abnormality of the fallopian tube human_phenotype HP:0011027 The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. Abnormal fallopian tube morphology HP:0011027 An abnormality of the fallopian tube. https://orcid.org/0000-0002-0736-9199 An abnormality of blood circulation. 2011-03-03T10:25:21Z UMLS:C4020760 UMLS:C4023585 human_phenotype Blood circulation disorder HP:0011028 Abnormality of blood circulation HP:0011028 An abnormality of blood circulation. https://orcid.org/0000-0002-0736-9199 The presence of hemorrhage within the body. 2011-03-03T10:26:26Z UMLS:C1390214 Internal bleeding Internal haemorrhage human_phenotype HP:0011029 Internal hemorrhage HP:0011029 The presence of hemorrhage within the body. https://orcid.org/0000-0002-0736-9199 Internal bleeding https://orcid.org/0000-0001-5208-3432 Internal haemorrhage Any deviation from the normal concentration of transition element cation in the blood circulation. 2011-03-04T07:59:31Z UMLS:C4023584 Abnormal blood transition element cation concentration Abnormal transition element cation level Abnormality of transition element cation homeostasis human_phenotype HP:0011030 Abnormal circulating transition element cation concentration HP:0011030 An abnormality of the homeostasis (concentration) of iron cation. 2011-03-04T08:01:07Z UMLS:C4023583 human_phenotype HP:0011031 Abnormality of iron homeostasis HP:0011031 An abnormality of the homeostasis (concentration) of iron cation. https://orcid.org/0000-0002-0736-9199 An abnormality of the regulation of body fluids. 2011-03-05T09:09:27Z SNOMEDCT_US:1860003 SNOMEDCT_US:190902006 UMLS:C2364164 Abnormality of fluid regulation Fluid imbalance human_phenotype HP:0011032 Abnormality of fluid regulation HP:0011032 An abnormality of the regulation of body fluids. https://orcid.org/0000-0002-0736-9199 Abnormality of fluid regulation Fluid imbalance https://orcid.org/0000-0001-6908-9849 An impairment of a fructose metabolic process. 2011-03-05T10:06:29Z UMLS:C4023581 human_phenotype HP:0011033 Impairment of fructose metabolism HP:0011033 An impairment of a fructose metabolic process. https://orcid.org/0000-0002-0736-9199 Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence. 2011-03-06T10:56:39Z Amyloidosis SNOMEDCT_US:17602002 UMLS:C0002726 human_phenotype Amyloid disease HP:0011034 Amyloid deposition is associated with amyloidosis, the pathologic process or disease caused by the tissue deposition of amyloid, often leading to organ dysfunction. This term, and its descendents, refer to the amyloid deposition (the phenotypic feature). Other clinical manifestations of amyloidosis should be coded separately. Amyloid deposition HP:0011034 Pathologic deposits of specific fibrillar protein aggregates with distinct microscopic properties, particularly affinity for the dye Congo red with typical birefringence. PMID:21039326 https://orcid.org/0000-0002-0736-9199 Amyloid disease https://orcid.org/0000-0001-6908-9849 An abnormality of the cortex of the kidney. 2011-03-06T11:31:39Z UMLS:C4023580 Abnormality of renal cortex morphology human_phenotype HP:0011035 Abnormal renal cortex morphology HP:0011035 An abnormality of the cortex of the kidney. https://orcid.org/0000-0002-0736-9199 An altered ability of the kidneys to void urine and/or specific substances. 2011-03-06T12:28:55Z MP:0005555 UMLS:C4023579 human_phenotype HP:0011036 Abnormality of renal excretion HP:0011036 An altered ability of the kidneys to void urine and/or specific substances. https://orcid.org/0000-0002-0736-9199 A decreased rate of urine production. 2011-03-06T12:33:12Z UMLS:C3887784 human_phenotype HP:0011037 A reduction in the overall amount of urine output. Decreased urine output HP:0011037 A decreased rate of urine production. https://orcid.org/0000-0002-0736-9199 An abnormality of renal absorption. 2011-03-06T12:38:04Z UMLS:C4023578 Abnormal renal resorption Abnormality of renal resorption human_phenotype HP:0011038 Abnormal renal tubular resorption HP:0011038 An abnormality of renal absorption. https://orcid.org/0000-0002-0736-9199 An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. 2011-03-06T04:41:34Z HP:0000380 UMLS:C1856660 Abnormal helices Abnormality of the helix Helix abnormal human_phenotype HP:0011039 Abnormal helix morphology HP:0011039 An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. https://orcid.org/0000-0002-0736-9199 An abnormality of the intrahepatic bile duct. 2011-03-07T07:54:11Z UMLS:C4023577 Abnormality of the intrahepatic bile duct human_phenotype HP:0011040 Abnormal intrahepatic bile duct morphology HP:0011040 An abnormality of the intrahepatic bile duct. https://orcid.org/0000-0002-0736-9199 Aplasia or developmental hypoplasia of the cervical vertebral column. 2011-03-09T08:29:34Z UMLS:C4023576 Absent/small cervical spine Absent/underdeveloped cervical spine human_phenotype HP:0011041 Aplasia/Hypoplasia of the cervical spine HP:0011041 Aplasia or developmental hypoplasia of the cervical vertebral column. https://orcid.org/0000-0002-0736-9199 Absent/small cervical spine https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped cervical spine https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of potassium(1+) in the blood circulation. 2011-03-09T11:00:32Z UMLS:C4023575 Abnormal blood K concentration Abnormal blood potassium concentration Abnormal circulating potassium concentration Abnormal potassium(1+) level Abnormality of potassium homeostasis human_phenotype HP:0011042 Abnormal circulating potassium concentration HP:0011042 Abnormal blood K concentration An abnormal concentration of corticotropin in the blood. 2011-03-10T07:46:59Z UMLS:C4023574 Abnormality of circulating corticotropin level human_phenotype Abnormality of circulating ACTH level Abnormality of circulating adrenocorticotropic hormone level Abnormality of circulating adrenocorticotropin level HP:0011043 Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. Abnormal circulating adrenocorticotropin concentration HP:0011043 An abnormal concentration of corticotropin in the blood. https://orcid.org/0000-0002-0736-9199 Abnormality of circulating ACTH level The presence of an altered number of of permanent teeth. 2011-03-10T10:43:37Z UMLS:C4023573 Abnormal complement of permanent teeth Abnormal number of adult teeth Abnormal number of permanent teeth Abnormal number of secondary dentition Abnormal permanent tooth count human_phenotype HP:0011044 Abnormal number of permanent teeth HP:0011044 The presence of an altered number of of permanent teeth. https://orcid.org/0000-0002-9338-3017 Abnormal complement of permanent teeth https://orcid.org/0000-0001-5889-4463 Abnormal number of adult teeth Abnormal number of permanent teeth Abnormal permanent tooth count https://orcid.org/0000-0001-5889-4463 Agenesis of upper secondary incisor. 2011-03-10T11:20:25Z UMLS:C4023572 UMLS:C4280358 UMLS:C4280359 Agenesis of adult maxillary central incisor Failure of development of permanent maxillary central incisor human_phenotype Absence of permanent maxillary central incisor Absence of permanent upper central incisor Absence of permanent upper front tooth Missing adult upper central incisor Missing permanent maxillary central incisor Missing permanent upper central incisor Missing permanent upper front tooth HP:0011045 This feature is to be distinguished from single central upper incisor, which is median. Agenesis of permanent maxillary central incisor HP:0011045 Agenesis of upper secondary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of adult maxillary central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent upper central incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent upper front tooth https://orcid.org/0000-0001-5889-4463 Missing adult upper central incisor https://orcid.org/0000-0001-5889-4463 Missing permanent maxillary central incisor https://orcid.org/0000-0001-5889-4463 Missing permanent upper central incisor https://orcid.org/0000-0001-5889-4463 Missing permanent upper front tooth https://orcid.org/0000-0001-5889-4463 Agenesis of upper central primary incisor. 2011-03-10T11:21:41Z UMLS:C4023571 UMLS:C4280357 Agenesis of deciduous maxillary central incisor Failure of development of deciduous maxillary central incisor Failure of development of primary maxillary central incisor human_phenotype Absence of deciduous maxillary central incisor Absence of primary maxillary central incisor Absence of upper front baby tooth Missing deciduous maxillary central incisor Missing primary maxillary central incisor Missing upper front baby tooth Missing upper front milk tooth HP:0011046 This feature is to be distinguished from single central upper incisor, which is median. Agenesis of primary maxillary central incisor HP:0011046 Agenesis of upper central primary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of deciduous maxillary central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of deciduous maxillary central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of primary maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of deciduous maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of primary maxillary central incisor https://orcid.org/0000-0001-5889-4463 Absence of upper front baby tooth https://orcid.org/0000-0001-5889-4463 Missing deciduous maxillary central incisor https://orcid.org/0000-0001-5889-4463 Missing primary maxillary central incisor https://orcid.org/0000-0001-5889-4463 Missing upper front baby tooth https://orcid.org/0000-0001-5889-4463 Missing upper front milk tooth https://orcid.org/0000-0001-5889-4463 Agenesis of lower primary incisor. 2011-03-10T11:14:55Z UMLS:C4023570 UMLS:C4280355 UMLS:C4280356 Agenesis of deciduous lower central incisor Agenesis of primary lower central incisor Failure of development of deciduous mandibular central incisor Failure of development of primary mandibular central incisor human_phenotype Absence of deciduous mandibular central incisor Absence of primary mandibular central incisor Missing deciduous mandibular central incisor Missing lower central incisor milk tooth Missing lower front baby tooth Missing lower front milk tooth Missing lower front primary tooth Missing primary mandibular central incisor HP:0011047 Agenesis of primary mandibular central incisor HP:0011047 Agenesis of lower primary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of deciduous lower central incisor https://orcid.org/0000-0001-5889-4463 Agenesis of primary lower central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of deciduous mandibular central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of primary mandibular central incisor https://orcid.org/0000-0001-5889-4463 Absence of deciduous mandibular central incisor https://orcid.org/0000-0001-5889-4463 Absence of primary mandibular central incisor https://orcid.org/0000-0001-5889-4463 Missing deciduous mandibular central incisor https://orcid.org/0000-0001-5889-4463 Missing lower central incisor milk tooth https://orcid.org/0000-0001-5889-4463 Missing lower front baby tooth https://orcid.org/0000-0001-5889-4463 Missing lower front milk tooth https://orcid.org/0000-0001-5889-4463 Missing lower front primary tooth https://orcid.org/0000-0001-5889-4463 Missing primary mandibular central incisor https://orcid.org/0000-0001-5889-4463 Agenesis of lower secondary incisor. 2011-03-10T11:16:08Z UMLS:C4023569 UMLS:C4280354 Agenesis of adult mandibular central incisor Failure of development of permanent mandibular central incisor human_phenotype Absence of permanent lower central incisor Absence of permanent lower front tooth Absence of permanent mandibular central incisor Missing adult lower central incisor Missing permanent lower central incisor Missing permanent lower front tooth Missing permanent mandibular central incisor HP:0011048 Agenesis of permanent mandibular central incisor HP:0011048 Agenesis of lower secondary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of adult mandibular central incisor https://orcid.org/0000-0001-5889-4463 Failure of development of permanent mandibular central incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent lower central incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent lower front tooth https://orcid.org/0000-0001-5889-4463 Absence of permanent mandibular central incisor https://orcid.org/0000-0001-5889-4463 Missing adult lower central incisor https://orcid.org/0000-0001-5889-4463 Missing permanent lower central incisor https://orcid.org/0000-0001-5889-4463 Missing permanent lower front tooth https://orcid.org/0000-0001-5889-4463 Missing permanent mandibular central incisor https://orcid.org/0000-0001-5889-4463 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. 2011-03-10T11:31:10Z UMLS:C4023568 UMLS:C4280353 Agenesis of deciduous maxillary lateral incisor Failure of development of deciduous maxillary lateral incisor Failure of development of primary maxillary lateral incisor human_phenotype Absence of deciduous maxillary lateral incisor Absence of primary maxillary lateral incisor Missing deciduous maxillary lateral incisor Missing primary maxillary lateral incisor HP:0011049 Agenesis of primary maxillary lateral incisor HP:0011049 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of deciduous maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of deciduous maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of primary maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of deciduous maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of primary maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Missing deciduous maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Missing primary maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Agenesis of one or more upper lateral secondary incisor. 2011-03-10T11:32:17Z UMLS:C4023567 UMLS:C4280352 Agenesis of permanent upper lateral incisor Failure of development of permanent maxillary lateral incisor Failure of development of permanent upper lateral incisor human_phenotype Absence of permanent maxillary lateral incisor Missing permanent maxillary lateral incisor Missing permanent upper lateral incisor HP:0011050 Agenesis of permanent maxillary lateral incisor HP:0011050 Agenesis of one or more upper lateral secondary incisor. https://orcid.org/0000-0002-9338-3017 Agenesis of permanent upper lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of permanent maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of permanent upper lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Missing permanent maxillary lateral incisor https://orcid.org/0000-0001-5889-4463 Missing permanent upper lateral incisor https://orcid.org/0000-0001-5889-4463 Agenesis of premolar tooth. 2011-03-10T11:36:44Z UMLS:C4023566 UMLS:C4280351 Agenesis of bicuspid Failure of development of bicuspid Failure of development of premolar human_phenotype Absence of bicuspid Absence of premolar Missing bicuspid Missing premolar HP:0011051 Note that premolar teeth occur only in the permanent dentition. Agenesis of premolar HP:0011051 Agenesis of premolar tooth. https://orcid.org/0000-0002-9338-3017 Agenesis of bicuspid https://orcid.org/0000-0001-5889-4463 Failure of development of bicuspid https://orcid.org/0000-0001-5889-4463 Failure of development of premolar https://orcid.org/0000-0001-5889-4463 Absence of bicuspid https://orcid.org/0000-0001-5889-4463 Absence of premolar https://orcid.org/0000-0001-5889-4463 Missing bicuspid https://orcid.org/0000-0001-5889-4463 Missing premolar https://orcid.org/0000-0001-5889-4463 Agenesis of maxillary premolar. 2011-03-10T11:39:06Z UMLS:C4023565 UMLS:C4280350 Agenesis of maxillary bicuspid Failure of development of maxillary bicuspid Failure of development of maxillary premolar human_phenotype Absence of maxillary bicuspid Absence of maxillary premolar Absence of upper premolar Missing maxillary premolar Missing upper bicuspid Missing upper premolar HP:0011052 Note that premolar teeth occur only in the permanent dentition. Agenesis of maxillary premolar HP:0011052 Agenesis of maxillary premolar. https://orcid.org/0000-0002-9338-3017 Agenesis of maxillary bicuspid https://orcid.org/0000-0001-5889-4463 Failure of development of maxillary bicuspid https://orcid.org/0000-0001-5889-4463 Failure of development of maxillary premolar https://orcid.org/0000-0001-5889-4463 Absence of maxillary bicuspid https://orcid.org/0000-0001-5889-4463 Absence of maxillary premolar https://orcid.org/0000-0001-5889-4463 Absence of upper premolar https://orcid.org/0000-0001-5889-4463 Missing maxillary premolar https://orcid.org/0000-0001-5889-4463 Missing upper bicuspid https://orcid.org/0000-0001-5889-4463 Missing upper premolar https://orcid.org/0000-0001-5889-4463 Agenesis of mandibular premolar. 2011-03-10T11:40:37Z UMLS:C4023564 UMLS:C4280349 Failure of development of mandibular premolar human_phenotype Absence of lower premolar Absence of mandibular premolar Missing lower premolar Missing mandibular premolar HP:0011053 Agenesis of mandibular premolar HP:0011053 Agenesis of mandibular premolar. https://orcid.org/0000-0002-9338-3017 Failure of development of mandibular premolar https://orcid.org/0000-0001-5889-4463 Absence of lower premolar https://orcid.org/0000-0001-5889-4463 Absence of mandibular premolar https://orcid.org/0000-0001-5889-4463 Missing lower premolar https://orcid.org/0000-0001-5889-4463 Missing mandibular premolar https://orcid.org/0000-0001-5889-4463 Agenesis of molar tooth. 2011-03-10T11:41:46Z UMLS:C4021203 UMLS:C4280348 Absent molars Failure of development of molar human_phenotype Absence of molar Missing molar HP:0011054 Agenesis of molar HP:0011054 Agenesis of molar tooth. https://orcid.org/0000-0002-9338-3017 Absent molars Failure of development of molar https://orcid.org/0000-0001-5889-4463 Absence of molar https://orcid.org/0000-0001-5889-4463 Missing molar https://orcid.org/0000-0001-5889-4463 Agenesis of secondary molar tooth. 2011-03-10T11:44:27Z UMLS:C4023563 UMLS:C4280347 Agenesis of secondary molar Failure of development of permanent molar Failure of development of secondary molar human_phenotype Absence of adult molar Absence of permanent molar Missing adult molar Missing permanent molar HP:0011055 Agenesis of permanent molar HP:0011055 Agenesis of secondary molar tooth. https://orcid.org/0000-0002-9338-3017 Agenesis of secondary molar https://orcid.org/0000-0001-5889-4463 Failure of development of permanent molar https://orcid.org/0000-0001-5889-4463 Failure of development of secondary molar https://orcid.org/0000-0001-5889-4463 Absence of adult molar https://orcid.org/0000-0001-5889-4463 Absence of permanent molar https://orcid.org/0000-0001-5889-4463 Missing adult molar https://orcid.org/0000-0001-5889-4463 Missing permanent molar https://orcid.org/0000-0001-5889-4463 Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. 2011-03-10T11:45:27Z UMLS:C4023562 UMLS:C4280346 Agenesis of six year molar Failure of development of first permanent molar Failure of development of six year molar human_phenotype Absence of first permanent molar Absence of six year molar Missing first permanent molar Missing six year molar HP:0011056 Agenesis of first permanent molar tooth HP:0011056 Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. https://orcid.org/0000-0002-9338-3017 Agenesis of six year molar https://orcid.org/0000-0001-5889-4463 Failure of development of first permanent molar https://orcid.org/0000-0001-5889-4463 Failure of development of six year molar https://orcid.org/0000-0001-5889-4463 Absence of first permanent molar https://orcid.org/0000-0001-5889-4463 Absence of six year molar https://orcid.org/0000-0001-5889-4463 Missing first permanent molar https://orcid.org/0000-0001-5889-4463 Missing six year molar https://orcid.org/0000-0001-5889-4463 Agenesis of either mandibular second permanent molar or maxillary second permanent molar. 2011-03-10T11:47:58Z UMLS:C4023561 UMLS:C4280257 Agenesis of twelve year molar Failure of development of second permanent molar Failure of development of twelve year molar human_phenotype Absence of second permanent molar Absence of twelve year molar Missing second permanent molar Missing twelve year molar HP:0011057 Agenesis of second permanent molar HP:0011057 Agenesis of either mandibular second permanent molar or maxillary second permanent molar. https://orcid.org/0000-0002-9338-3017 Agenesis of twelve year molar https://orcid.org/0000-0001-5889-4463 Failure of development of second permanent molar https://orcid.org/0000-0001-5889-4463 Failure of development of twelve year molar https://orcid.org/0000-0001-5889-4463 Absence of second permanent molar https://orcid.org/0000-0001-5889-4463 Absence of twelve year molar https://orcid.org/0000-0001-5889-4463 Missing second permanent molar https://orcid.org/0000-0001-5889-4463 Missing twelve year molar https://orcid.org/0000-0001-5889-4463 A generalized form of periodontitis. 2011-03-10T12:23:22Z Generalised gum disease Generalized gum disease Widespread gum disease UMLS:C4023560 UMLS:C4280345 Generalised periodontal disease Generalised periodontitis Generalized periodontal disease human_phenotype HP:0011058 Generalized periodontitis HP:0011058 A generalized form of periodontitis. https://orcid.org/0000-0002-9338-3017 Generalised gum disease Generalized gum disease https://orcid.org/0000-0001-5889-4463 Widespread gum disease https://orcid.org/0000-0001-5889-4463 Generalised periodontal disease Generalised periodontitis Generalized periodontal disease https://orcid.org/0000-0001-5889-4463 A localized form of periodontitis. 2011-03-10T12:26:35Z Limited area of gum disease Localised gum disease Localized gum disease UMLS:C4023559 UMLS:C4280344 Localised periodontal disease Localised periodontitis Localized periodontal disease human_phenotype HP:0011059 Localized periodontitis HP:0011059 A localized form of periodontitis. https://orcid.org/0000-0002-9338-3017 Limited area of gum disease https://orcid.org/0000-0001-5889-4463 Localised gum disease Localized gum disease https://orcid.org/0000-0001-5889-4463 Localised periodontal disease Localised periodontitis Localized periodontal disease https://orcid.org/0000-0001-5889-4463 Developmental dysplasia of dentin affecting only the primary dentition. 2011-03-11T12:26:32Z SNOMEDCT_US:109492001 UMLS:C0011430 UMLS:C4023558 Dentinogenesis imperfecta of baby teeth human_phenotype HP:0011060 Dentinogenesis imperfecta limited to primary teeth HP:0011060 Developmental dysplasia of dentin affecting only the primary dentition. https://orcid.org/0000-0002-9338-3017 Dentinogenesis imperfecta of baby teeth https://orcid.org/0000-0001-5889-4463 An abnormality of the structure or composition of the teeth. 2011-03-10T01:44:04Z UMLS:C4023557 Abnormality of tooth part Abnormality of tooth structure human_phenotype HP:0011061 Abnormality of dental structure HP:0011061 An abnormality of the structure or composition of the teeth. https://orcid.org/0000-0002-9338-3017 Abnormality of tooth part https://orcid.org/0000-0001-5889-4463 Abnormality of tooth structure https://orcid.org/0000-0001-5889-4463 Misaligned incisor. 2011-03-10T01:57:43Z Abnormality of position of incisors Malposition of incisors UMLS:C4023556 UMLS:C4280343 Abnormality of alignment of incisors Crooked front teeth Crooked incisors Misalignment of incisors human_phenotype HP:0011062 Misalignment of incisors HP:0011062 Misaligned incisor. https://orcid.org/0000-0002-9338-3017 Abnormality of position of incisors https://orcid.org/0000-0001-5889-4463 Malposition of incisors https://orcid.org/0000-0001-5889-4463 Abnormality of alignment of incisors https://orcid.org/0000-0001-5889-4463 Crooked front teeth https://orcid.org/0000-0001-5889-4463 Crooked incisors https://orcid.org/0000-0001-5889-4463 Misalignment of incisors An abnormality of morphology of the incisor tooth. 2011-03-10T02:06:54Z UMLS:C4023555 Abnormality of incisor morphology Abnormality of shape of incisor human_phenotype HP:0011063 Abnormal incisor morphology HP:0011063 An abnormality of morphology of the incisor tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of shape of incisor https://orcid.org/0000-0001-5889-4463 The presence of an altered number of the incisor teeth. 2011-03-10T02:09:16Z UMLS:C4023554 Abnormal number of front teeth Abnormal number of incisors human_phenotype HP:0011064 Abnormal number of incisors HP:0011064 The presence of an altered number of the incisor teeth. https://orcid.org/0000-0002-9338-3017 Abnormal number of front teeth https://orcid.org/0000-0001-5889-4463 Abnormal number of incisors An abnormal conical morphology of the incisor tooth. 2011-03-10T02:14:34Z HP:0000673 HP:0006345 HP:0011066 UMLS:C1856136 UMLS:C4020759 UMLS:C4280341 UMLS:C4280342 Cone shaped front tooth Conoid incisor Peg shaped incisors Peg-shaped incisors Shark tooth incisor human_phenotype Peg shaped front tooth Pointed front tooth Pointed incisor HP:0011065 Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. Conical incisor HP:0011065 An abnormal conical morphology of the incisor tooth. https://orcid.org/0000-0002-9338-3017 Cone shaped front tooth https://orcid.org/0000-0001-5889-4463 Shark tooth incisor https://orcid.org/0000-0001-5889-4463 Peg shaped front tooth https://orcid.org/0000-0001-5889-4463 Pointed front tooth https://orcid.org/0000-0001-5889-4463 true HP:0011066 A supernumerary tooth in the midline between the maxillary central incisors. 2011-03-10T02:38:59Z Extra tooth Extra tooth in the midline SNOMEDCT_US:17802000 SNOMEDCT_US:266414008 SNOMEDCT_US:367534004 SNOMEDCT_US:8666004 UMLS:C0040457 UMLS:C0266030 UMLS:C4280340 Median supernumary tooth Midline supernumary tooth Mesiodentes human_phenotype HP:0011067 A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. Mesiodens is the most common supernumerary tooth. Typically, they are small. They are usually conical in shape but may have heterogeneous forms. Mesiodens may remain unerupted and cause failure of a permanent incisor to erupt. Mesiodens may develop in an inverted position. Mesiodens HP:0011067 A supernumerary tooth in the midline between the maxillary central incisors. PMID:18262485 PMID:31468724 https://orcid.org/0000-0002-9338-3017 Extra tooth Extra tooth in the midline https://orcid.org/0000-0001-5889-4463 Median supernumary tooth https://orcid.org/0000-0001-5889-4463 Midline supernumary tooth https://orcid.org/0000-0001-5889-4463 Mesiodentes https://orcid.org/0000-0001-5889-4463 The presence of an odontoma. 2011-03-10T02:40:52Z SNOMEDCT_US:79074005 UMLS:C0028882 human_phenotype Odontomas HP:0011068 MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). Odontoma HP:0011068 The presence of an odontoma. https://orcid.org/0000-0002-9338-3017 Odontomas https://orcid.org/0000-0002-5316-1399 The presence of one or more teeth additional to the normal number. 2011-03-10T02:52:19Z HP:0000672 SNOMEDCT_US:266414008 SNOMEDCT_US:367534004 SNOMEDCT_US:8666004 UMLS:C0040457 Extra teeth Hyperdontia Increased number of teeth Increased tooth count Supernumerary teeth Supplemental dentition Supplemental teeth Tooth, supernumerary Supernumary dentition Supernumary teeth human_phenotype More teeth than normal HP:0011069 Age-related physiological sequential eruption should be taken into account during evaluation. The type and the location of the additional tooth/teeth should be added to the description. Supernumerary teeth are uncommon (in 0.21% of deciduous dentitions and in 0.9% of permanent dentitions), and often abnormal positioning of a normal number of teeth is wrongly classified as supernumerary teeth. Supernumerary teeth are most frequent in the upper maxilla, and typically, a single additional tooth is present. We discourage the use of distodens, distomolars (an extra fourth molar posterior to the third molar), paramolars (supernumerary tooth in the molar region) but rather to mention the presence of the supernumerary tooth mesial to or distal to a tooth from the normal series. Diagnosing a supernumerary tooth may require radiographic examination. A supernumerary tooth present between the maxillary central incisors is called mesiodens. Supernumerary tooth HP:0011069 The presence of one or more teeth additional to the normal number. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Extra teeth https://orcid.org/0000-0001-5889-4463 Hyperdontia https://orcid.org/0000-0001-5889-4463 Increased number of teeth Increased tooth count https://orcid.org/0000-0001-5889-4463 Supplemental dentition https://orcid.org/0000-0001-5889-4463 Supplemental teeth https://orcid.org/0000-0001-5889-4463 Supernumary dentition https://orcid.org/0000-0001-5889-4463 Supernumary teeth https://orcid.org/0000-0001-5889-4463 More teeth than normal https://orcid.org/0000-0001-5889-4463 An abnormality of morphology of molar tooth. 2011-03-10T03:45:51Z UMLS:C4023553 Abnormal shape of molar tooth Abnormality of molar morphology human_phenotype HP:0011070 Abnormal molar morphology HP:0011070 An abnormality of morphology of molar tooth. https://orcid.org/0000-0002-9338-3017 Abnormal shape of molar tooth https://orcid.org/0000-0001-5889-4463 An abnormality of morphology of permanent molar. 2011-03-10T03:48:43Z UMLS:C4023552 Abnormality of permanent molar morphology Abnormality of shape of adult molar Abnormality of shape of permanent molar human_phenotype HP:0011071 Abnormal permanent molar morphology HP:0011071 An abnormality of morphology of permanent molar. https://orcid.org/0000-0002-9338-3017 Abnormality of shape of adult molar https://orcid.org/0000-0001-5889-4463 Abnormality of shape of permanent molar https://orcid.org/0000-0001-5889-4463 2011-03-10T03:56:41Z SNOMEDCT_US:109493006 UMLS:C0399379 UMLS:C4082200 Absence of tooth root Agenesis of tooth root Aplasia of tooth root Missing tooth root Rootless teeth Teeth without roots human_phenotype Tooth with dentin dysplasia type i HP:0011072 Rootless teeth HP:0011072 Absence of tooth root https://orcid.org/0000-0001-5889-4463 Agenesis of tooth root https://orcid.org/0000-0001-5889-4463 Aplasia of tooth root https://orcid.org/0000-0001-5889-4463 Missing tooth root https://orcid.org/0000-0001-5889-4463 Rootless teeth Teeth without roots https://orcid.org/0000-0001-5889-4463 Tooth with dentin dysplasia type i https://orcid.org/0000-0001-5889-4463 A developmental defect of tooth color. 2011-03-10T05:20:03Z UMLS:C4023551 Abnormality of dental color Abnormality of dental colour Abnormality of dental shade Abnormality of tooth color Abnormality of tooth colour Abnormality of tooth shade human_phenotype HP:0011073 Abnormality of dental color HP:0011073 A developmental defect of tooth color. https://orcid.org/0000-0002-9338-3017 Abnormality of dental color Abnormality of dental colour Abnormality of dental shade https://orcid.org/0000-0001-5889-4463 Abnormality of tooth color https://orcid.org/0000-0001-5889-4463 Abnormality of tooth colour Abnormality of tooth shade https://orcid.org/0000-0001-5889-4463 A localized form of developmental hypoplasia of the dental enamel. 2011-03-10T05:13:09Z UMLS:C4023550 UMLS:C4280339 Localised hypoplasia of dental enamel Localised hypoplasia of tooth enamel Localized hypoplasia of tooth enamel human_phenotype Localised dysplasia of tooth enamel Localized dysplasia of tooth enamel HP:0011074 Localized hypoplasia of dental enamel HP:0011074 A localized form of developmental hypoplasia of the dental enamel. https://orcid.org/0000-0002-9338-3017 Localised hypoplasia of dental enamel Localised hypoplasia of tooth enamel Localized hypoplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 Localised dysplasia of tooth enamel Localized dysplasia of tooth enamel https://orcid.org/0000-0001-5889-4463 A green staining of teeth. 2011-03-10T05:23:18Z UMLS:C4023549 Green colored teeth Green coloured teeth Green teeth Green tooth shade human_phenotype HP:0011075 Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. Green teeth HP:0011075 A green staining of teeth. PMID:12686928 Green colored teeth https://orcid.org/0000-0001-5889-4463 Green coloured teeth Green teeth Green tooth shade https://orcid.org/0000-0001-5889-4463 An abnormality of premolar tooth. 2011-03-11T09:56:17Z UMLS:C4023548 Abnormality of bicuspid Abnormality of premolar human_phenotype HP:0011076 Abnormality of premolar HP:0011076 An abnormality of premolar tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of bicuspid https://orcid.org/0000-0001-5889-4463 Abnormality of premolar An abnormality of molar tooth. 2011-03-11T09:57:49Z UMLS:C4023547 Abnormality of molar human_phenotype HP:0011077 Abnormality of molar HP:0011077 An abnormality of molar tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of molar An abnormality of canine tooth. 2011-03-11T09:58:41Z UMLS:C4023546 Abnormality of canine Abnormality of eye tooth human_phenotype HP:0011078 Abnormality of canine HP:0011078 An abnormality of canine tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of canine Abnormality of eye tooth https://orcid.org/0000-0001-5889-4463 A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). 2011-03-11T10:18:55Z Buried tooth SNOMEDCT_US:129263008 SNOMEDCT_US:235104008 UMLS:C0040456 UMLS:C4280338 Impacted tooth Retained tooth human_phenotype HP:0011079 Impacted tooth HP:0011079 A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). https://orcid.org/0000-0002-9338-3017 Buried tooth https://orcid.org/0000-0001-5889-4463 Impacted tooth An abnormality of morphology of premolar tooth. 2011-03-11T10:33:42Z UMLS:C4023545 Abnormality of bicuspid morphology Abnormality of premolar morphology Abnormality of shape of bicuspid Abnormality of shape of premolar human_phenotype HP:0011080 Abnormal premolar morphology HP:0011080 An abnormality of morphology of premolar tooth. https://orcid.org/0000-0002-9338-3017 Abnormality of bicuspid morphology https://orcid.org/0000-0001-5889-4463 Abnormality of shape of bicuspid https://orcid.org/0000-0001-5889-4463 Abnormality of shape of premolar https://orcid.org/0000-0001-5889-4463 Increased size of the incisor tooth. 2011-03-11T10:39:44Z Hyperplasia of incisor Hypertrophy of incisor Increased size of incisor Large incisor UMLS:C4023544 UMLS:C4280337 Increased width of incisor human_phenotype HP:0011081 Incisor macrodontia HP:0011081 Increased size of the incisor tooth. https://orcid.org/0000-0002-9338-3017 Hyperplasia of incisor https://orcid.org/0000-0001-5889-4463 Hypertrophy of incisor https://orcid.org/0000-0001-5889-4463 Increased size of incisor https://orcid.org/0000-0001-5889-4463 Large incisor https://orcid.org/0000-0001-5889-4463 Increased width of incisor https://orcid.org/0000-0001-5889-4463 An abnormal conical morphology of the primary incisor. 2011-03-11T11:06:57Z UMLS:C4023543 Cone shaped front baby tooth Conical deciduous incisor Conoid primary incisor Primary front shark tooth human_phenotype Peg shaped front baby tooth Peg shaped primary incisor Pointed front baby tooth Pointed primary incisor HP:0011082 Conical primary incisor HP:0011082 An abnormal conical morphology of the primary incisor. https://orcid.org/0000-0002-9338-3017 Cone shaped front baby tooth https://orcid.org/0000-0001-5889-4463 Conical deciduous incisor https://orcid.org/0000-0001-5889-4463 Conoid primary incisor https://orcid.org/0000-0001-5889-4463 Primary front shark tooth https://orcid.org/0000-0001-5889-4463 Peg shaped front baby tooth https://orcid.org/0000-0001-5889-4463 Peg shaped primary incisor https://orcid.org/0000-0001-5889-4463 Pointed front baby tooth https://orcid.org/0000-0001-5889-4463 Pointed primary incisor An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. 2011-03-11T11:36:11Z UMLS:C4023542 Cone shaped maxillary incisor Cone shaped upper front tooth Conoid maxillary incisor Upper front shark tooth human_phenotype Peg shaped upper front tooth Pointed maxillary incisor Pointed upper front tooth HP:0011083 Conical maxillary incisor HP:0011083 An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both. https://orcid.org/0000-0002-9338-3017 Cone shaped maxillary incisor https://orcid.org/0000-0001-5889-4463 Cone shaped upper front tooth https://orcid.org/0000-0001-5889-4463 Conoid maxillary incisor https://orcid.org/0000-0001-5889-4463 Upper front shark tooth https://orcid.org/0000-0001-5889-4463 Peg shaped upper front tooth https://orcid.org/0000-0001-5889-4463 Pointed maxillary incisor https://orcid.org/0000-0001-5889-4463 Pointed upper front tooth https://orcid.org/0000-0001-5889-4463 A form of hypomineralization of enamel characterized by reduced calcification. 2011-03-11T12:08:46Z UMLS:C4023541 Decreased enamel calcification Poorly calcified tooth enamel human_phenotype HP:0011084 Hypocalcification of dental enamel HP:0011084 A form of hypomineralization of enamel characterized by reduced calcification. PMID:18499550 Decreased enamel calcification https://orcid.org/0000-0001-5889-4463 Poorly calcified tooth enamel https://orcid.org/0000-0001-5889-4463 A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. 2011-03-11T12:10:33Z UMLS:C4023540 UMLS:C4280266 UMLS:C4280336 Immature tooth enamel Soft teeth Soft tooth enamel human_phenotype HP:0011085 Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. Hypomature dental enamel HP:0011085 A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. https://orcid.org/0000-0002-9338-3017 Immature tooth enamel https://orcid.org/0000-0001-5889-4463 Soft teeth https://orcid.org/0000-0001-5889-4463 Soft tooth enamel https://orcid.org/0000-0001-5889-4463 Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. 2011-03-11T12:28:37Z UMLS:C4023539 Dentinogenesis imperfecta of adult and baby teeth Dentinogenesis imperfecta of both sets of teeth human_phenotype HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth HP:0011086 Developmental dysplasia of dentin or both the primary dentition and the permanent dentition. https://orcid.org/0000-0002-9338-3017 Dentinogenesis imperfecta of adult and baby teeth https://orcid.org/0000-0001-5889-4463 Dentinogenesis imperfecta of both sets of teeth https://orcid.org/0000-0001-5889-4463 Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). 2011-03-11T02:00:28Z Extra cusp on inside of front tooth SNOMEDCT_US:234955005 SNOMEDCT_US:63691004 UMLS:C0266034 UMLS:C0399357 UMLS:C4280335 Dens evaginatus Talon cusps human_phenotype HP:0011087 Talon cusp HP:0011087 Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). https://orcid.org/0000-0002-9338-3017 Extra cusp on inside of front tooth https://orcid.org/0000-0001-5889-4463 Dens evaginatus https://orcid.org/0000-0001-5889-4463 Talon cusps https://orcid.org/0000-0002-5316-1399 An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. 2011-03-11T02:07:28Z SNOMEDCT_US:55197001 UMLS:C0011320 Dens invaginatus Tooth within a tooth human_phenotype HP:0011088 Dens in dente is Latin for tooth inside of tooth. Dens in dente results from an invagination of the enamel organ into the dental papilla, extending into the root before initiation of mineralization. The permanent maxillary lateral incisors are the most frequently involved teeth, but it can occur in any tooth type. It occurs more frequently in the permanent dentition and in maxillary teeth. The diagnosis dens in dente needs to be confirmed by X-rays. Dens in dente HP:0011088 An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Dens invaginatus https://orcid.org/0000-0001-5889-4463 Tooth within a tooth https://orcid.org/0000-0001-5889-4463 Fusion of two adjacent teeth. 2011-03-11T02:13:26Z SNOMEDCT_US:1744008 UMLS:C0016873 Conjoined teeth Double tooth Teeth, double Twinning tooth human_phenotype HP:0011089 The fusion can be complete or be limited to the crown or the root. Typically, incisors and canines form double teeth. Double teeth are more common in the deciduous dentition and rare in the permanent dentition. Double teeth encompasses fusion, concrescence, and gemination of teeth, which some authors describe with the twinning. Double tooth HP:0011089 Fusion of two adjacent teeth. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Conjoined teeth https://orcid.org/0000-0001-5889-4463 Double tooth The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. 2011-03-11T02:17:04Z SNOMEDCT_US:1744008 UMLS:C0016873 Fused teeth Fusion of teeth Joined teeth human_phenotype HP:0011090 Fused teeth HP:0011090 The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. PMID:18167487 Fused teeth Fusion of teeth https://orcid.org/0000-0001-5889-4463 Joined teeth The development of two teeth from a single tooth bud, leading to a larger fused tooth. 2011-03-11T02:19:11Z SNOMEDCT_US:40273006 UMLS:C0266033 Gemination of tooth Splitting of crown of tooth human_phenotype HP:0011091 If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. Gemination HP:0011091 The development of two teeth from a single tooth bud, leading to a larger fused tooth. PMID:18167487 Gemination of tooth https://orcid.org/0000-0001-5889-4463 Splitting of crown of tooth https://orcid.org/0000-0001-5889-4463 Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. 2011-03-11T02:25:56Z SNOMEDCT_US:109436001 UMLS:C0266024 Syphilitic permanent first molar human_phenotype HP:0011092 Mulberry molar HP:0011092 Syphilitic permanent first molar https://orcid.org/0000-0001-5889-4463 Increased size and molar morphology of premolar tooth. 2011-03-11T02:32:39Z UMLS:C1404304 UMLS:C4280334 Molar shape of bicuspid Molar shape of premolar Molarization of bicuspid human_phenotype Enlarged premolar Increased size of premolar HP:0011093 Molarization of premolar HP:0011093 Increased size and molar morphology of premolar tooth. PMID:15587104 https://orcid.org/0000-0002-9338-3017 Molar shape of bicuspid https://orcid.org/0000-0001-5889-4463 Molar shape of premolar https://orcid.org/0000-0001-5889-4463 Molarization of bicuspid https://orcid.org/0000-0001-5889-4463 Enlarged premolar https://orcid.org/0000-0001-5889-4463 Increased size of premolar https://orcid.org/0000-0001-5889-4463 Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. 2011-03-11T05:13:34Z SNOMEDCT_US:10816007 SNOMEDCT_US:251293001 SNOMEDCT_US:60476005 SNOMEDCT_US:63783001 UMLS:C0266063 UMLS:C0266067 UMLS:C1305740 Increased overlap of upper and lower incisors Overbite Supraocclusion Deep bite Deep overbite Scissors bite human_phenotype HP:0011094 Increased overbite HP:0011094 Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. PMID:31468724 https://orcid.org/0000-0002-9338-3017 Increased overlap of upper and lower incisors https://orcid.org/0000-0001-5889-4463 Overbite Deep bite https://orcid.org/0000-0001-5889-4463 Deep overbite https://orcid.org/0000-0001-5889-4463 Scissors bite https://orcid.org/0000-0001-5889-4463 An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. 2011-03-11T05:15:43Z SNOMEDCT_US:251292006 SNOMEDCT_US:70305005 UMLS:C0596028 Abnormality of horizontal incisor relationship Protrusion of upper teeth in front of lower teeth human_phenotype Buck teeth Protrusion of the maxillary incisors Upper teeth sticking out forward HP:0011095 Overjet HP:0011095 An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure. https://orcid.org/0000-0002-9338-3017 Abnormality of horizontal incisor relationship https://orcid.org/0000-0001-5889-4463 Protrusion of upper teeth in front of lower teeth https://orcid.org/0000-0001-5889-4463 Buck teeth https://orcid.org/0000-0001-5889-4463 Protrusion of the maxillary incisors https://orcid.org/0000-0001-5889-4463 Upper teeth sticking out forward https://orcid.org/0000-0001-5889-4463 A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. 2011-03-28T09:01:02Z HP:0003381 HP:0006939 HP:0007282 UMLS:C0878575 Demyelination human_phenotype HP:0011096 This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. Peripheral demyelination HP:0011096 A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages 2011-05-04T01:56:31Z SNOMEDCT_US:28055006 UMLS:C0037769 UMLS:C1527366 Epileptic spasms Salaam convulsion Salaam convulsions Salaam seizure Salaam seizures human_phenotype West syndrome HP:0011097 The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). Epileptic spasm HP:0011097 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages HPO_CONTRIBUTOR:jalbers PMID:28276060 Epileptic spasms Salaam convulsions Salaam seizures A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. 2011-05-15T08:57:11Z SNOMEDCT_US:361276003 SNOMEDCT_US:361277007 SNOMEDCT_US:74227009 UMLS:C0264611 UMLS:C0349391 Apraxia of speech Verbal dyspraxia human_phenotype Speech dyspraxia HP:0011098 Speech apraxia may co-occur with oral apraxia and limb apraxia. Speech apraxia HP:0011098 A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. https://orcid.org/0000-0002-0736-9199 Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. 2011-06-04T09:10:40Z SNOMEDCT_US:79633009 UMLS:C0154694 Spastic hemiplegia human_phenotype HP:0011099 Spastic hemiparesis HP:0011099 Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. https://orcid.org/0000-0002-0736-9199 An abnormal closure, or atresia of the tubular structure of the intestine. 2011-06-04T09:16:25Z UMLS:C0021828 human_phenotype HP:0011100 Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. Intestinal atresia HP:0011100 An abnormal closure, or atresia of the tubular structure of the intestine. https://orcid.org/0000-0002-0736-9199 true HP:0011101 An abnormal closure, or atresia of the tubular structure of the ileum. 2011-06-04T09:22:34Z SNOMEDCT_US:25896009 UMLS:C0266176 human_phenotype HP:0011102 Ileal atresia HP:0011102 An abnormal closure, or atresia of the tubular structure of the ileum. https://orcid.org/0000-0002-0736-9199 An abnormality of the outflow tract of the left ventricle. 2011-06-05T04:15:50Z SNOMEDCT_US:253545000 UMLS:C0344916 Abnormality of the left ventricular outflow tract human_phenotype HP:0011103 Abnormal left ventricular outflow tract morphology HP:0011103 An abnormality of the outflow tract of the left ventricle. https://orcid.org/0000-0002-0736-9199 An abnormality in the amount of volume occupied by intravascular blood. 2011-06-07T11:16:33Z UMLS:C4023537 human_phenotype HP:0011104 Abnormality of blood volume homeostasis HP:0011104 An abnormality in the amount of volume occupied by intravascular blood. https://orcid.org/0000-0002-0736-9199 An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. 2011-06-07T11:17:32Z SNOMEDCT_US:21639008 UMLS:C0546817 Fluid overload in blood human_phenotype HP:0011105 Hypervolemia HP:0011105 An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood. https://orcid.org/0000-0002-0736-9199 Fluid overload in blood https://en.wikipedia.org/wiki/hypervolemia https://orcid.org/0000-0001-5208-3432 An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. 2011-06-07T11:18:54Z SNOMEDCT_US:28560003 UMLS:C0546884 Depleted blood volume human_phenotype HP:0011106 Hypovolemia HP:0011106 An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. https://orcid.org/0000-0002-0736-9199 Depleted blood volume https://orcid.org/0000-0001-5208-3432 Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. 2011-06-08T07:11:09Z SNOMEDCT_US:110426005 SNOMEDCT_US:398870000 SNOMEDCT_US:426965005 SNOMEDCT_US:427617000 UMLS:C0038363 UMLS:C2937365 Recurrent canker sores Recurrent oral aphthae human_phenotype Aphthous stomatitis Buccal aphthous ulcers Recurrent aphthous ulcers HP:0011107 Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. Recurrent aphthous stomatitis HP:0011107 Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. https://orcid.org/0000-0002-0736-9199 Recurrent canker sores https://orcid.org/0000-0002-6548-5200 A recurrent form of sinusitis. 2011-06-10T07:31:22Z SNOMEDCT_US:195788001 UMLS:C0581354 UMLS:C4280333 Recurrent sinus infections Sinusitis, recurrent human_phenotype Recurrent sinus disease HP:0011108 Recurring inflammation of the paranasal sinuses. Recurrent sinusitis HP:0011108 A recurrent form of sinusitis. https://orcid.org/0000-0002-0736-9199 Sinusitis, recurrent https://orcid.org/0000-0002-5316-1399 Recurrent sinus disease https://orcid.org/0000-0001-5889-4463 A chronic form of sinusitis. 2011-06-10T07:33:14Z SNOMEDCT_US:40055000 UMLS:C0149516 UMLS:C0748720 human_phenotype Chronic sinus disease Sinusitis, chronic HP:0011109 Chronic sinusitis HP:0011109 A chronic form of sinusitis. https://orcid.org/0000-0002-0736-9199 Chronic sinus disease https://orcid.org/0000-0001-5889-4463 Sinusitis, chronic https://orcid.org/0000-0002-5316-1399 Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. 2011-06-10T07:46:38Z SNOMEDCT_US:90176007 UMLS:C0040425 Recurrent inflammation of tonsils human_phenotype HP:0011110 Recurrent tonsillitis HP:0011110 Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. PMID:15897415 https://orcid.org/0000-0002-0736-9199 Recurrent inflammation of tonsils https://orcid.org/0000-0001-5208-3432 An abnormality of the concentration or function of circulating immune proteins. 2011-06-12T08:58:47Z UMLS:C4023536 Abnormality of immune serum protein physiology human_phenotype HP:0011111 Abnormal immune serum protein physiology HP:0011111 An abnormality of the concentration or function of circulating immune proteins. https://orcid.org/0000-0002-0736-9199 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. 2011-06-12T09:03:40Z MP:0010210 UMLS:C4023535 Abnormality of serum cytokine level human_phenotype HP:0011112 Abnormal circulating cytokine concentration HP:0011112 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells. https://orcid.org/0000-0002-0736-9199 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). 2011-06-12T09:07:24Z MP:0003009 UMLS:C4023534 human_phenotype HP:0011113 Abnormality of cytokine secretion HP:0011113 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells). https://orcid.org/0000-0002-0736-9199 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. 2011-06-12T09:12:15Z UMLS:C4023533 human_phenotype HP:0011114 Defective production of NFKB1-dependent cytokines HP:0011114 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. https://orcid.org/0000-0002-0736-9199 An abnormality in the production or cellular release of a chemokine (a class of cytokines). 2011-06-12T09:14:25Z UMLS:C4023532 Abnormality of chemokine secretion human_phenotype HP:0011115 Abnormal circulating chemokine concentration HP:0011115 The concentration of an interferon is outside the limits of normal. 2011-06-12T09:14:43Z HP:0030354 UMLS:C4023531 Abnormal serum interferon level Abnormality of interferon secretion human_phenotype HP:0011116 Abnormal circulating interferon concentration HP:0011116 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. 2011-06-12T09:16:10Z HP:0030782 UMLS:C4023530 Abnormal serum IL level Abnormal serum interleukin level Abnormality of IL secretion Abnormality of interleukin secretion human_phenotype HP:0011117 Abnormal circulating interleukin concentration HP:0011117 The concentration of an interleukin (a class of cytokines) is outside the limits of normal. PMID:28487810 Abnormal serum IL level Abnormality of IL secretion An abnormality in the production or cellular release of tumor necrosis factor. 2011-06-12T09:16:58Z MP:0008556 UMLS:C4023529 Abnormality of cachectin secretion Abnormality of cachexin secretion Abnormality of tumour necrosis factor secretion human_phenotype HP:0011118 Abnormality of tumor necrosis factor secretion HP:0011118 Abnormality of cachectin secretion https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha https://orcid.org/0000-0001-6908-9849 Abnormality of cachexin secretion https://en.wikipedia.org/wiki/tumor_necrosis_factor_alpha https://orcid.org/0000-0001-6908-9849 Abnormality of tumour necrosis factor secretion An abnormality of the nasal dorsum, also known as the nasal ridge. 2011-06-12T09:37:47Z UMLS:C4021202 UMLS:C4280332 Abnormality of the dorsum of nose Abnormality of the nasal dorsum Abnormality of the nasal ridge Anomaly of the nasal ridge Abnormal morphology of dorsum of nose Crooked dorsum of nose Crooked nasal dorsum Crooked nasal ridge Deformity of the dorsum of the nose Deformity of the nasal dorsum Deformity of the nasal ridge Malformation of the dorsum of nose Malformation of the nasal dorsum Malformation of the nasal ridge human_phenotype HP:0011119 The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. Abnormal nasal dorsum morphology HP:0011119 An abnormality of the nasal dorsum, also known as the nasal ridge. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Abnormality of the dorsum of nose https://orcid.org/0000-0001-5889-4463 Abnormality of the nasal ridge https://orcid.org/0000-0001-5889-4463 Abnormal morphology of dorsum of nose https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Crooked dorsum of nose https://orcid.org/0000-0001-5889-4463 Crooked nasal dorsum https://orcid.org/0000-0001-5889-4463 Crooked nasal ridge https://orcid.org/0000-0001-5889-4463 Deformity of the dorsum of the nose https://orcid.org/0000-0001-5889-4463 Deformity of the nasal dorsum https://orcid.org/0000-0001-5889-4463 Deformity of the nasal ridge https://orcid.org/0000-0001-5889-4463 Malformation of the dorsum of nose https://orcid.org/0000-0001-5889-4463 Malformation of the nasal dorsum https://orcid.org/0000-0001-5889-4463 Malformation of the nasal ridge https://orcid.org/0000-0001-5889-4463 Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. 2011-06-12T09:39:55Z SNOMEDCT_US:710234009 UMLS:C0264169 Boxer's nasal deformity Boxer's nose deformity Concave dorsum of nose Concave nasal dorsum Saddle nose Saddle shaped nasal dorsum Ski jump nose human_phenotype Saddle nose deformity HP:0011120 A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. Concave nasal ridge HP:0011120 Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Boxer's nasal deformity https://orcid.org/0000-0001-5889-4463 Boxer's nose deformity https://orcid.org/0000-0001-5889-4463 Concave dorsum of nose https://orcid.org/0000-0001-5889-4463 Concave nasal dorsum https://orcid.org/0000-0001-5889-4463 Saddle nose Saddle shaped nasal dorsum https://orcid.org/0000-0001-5889-4463 Ski jump nose Saddle nose deformity https://orcid.org/0000-0002-5316-1399 Any morphological abnormality of the skin. 2011-06-12T10:03:23Z Fyler:4133 UMLS:C4023528 Abnormal skin morphology Abnormal skin structure Abnormality of skin morphology human_phenotype HP:0011121 Abnormal skin morphology HP:0011121 Any morphological abnormality of the skin. https://orcid.org/0000-0002-0736-9199 Abnormal skin morphology https://orcid.org/0000-0001-5208-3432 Abnormal skin structure https://orcid.org/0000-0001-5208-3432 Any abnormality of the physiological function of the skin. 2011-06-12T10:05:14Z UMLS:C4023527 Abnormality of skin physiology human_phenotype HP:0011122 Abnormal skin physiology HP:0011122 Any abnormality of the physiological function of the skin. https://orcid.org/0000-0002-0736-9199 Abnormality of skin physiology The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. 2011-06-12T10:06:04Z HP:0002727 HP:0007423 MP:0004947 SNOMEDCT_US:703938007 UMLS:C0011603 UMLS:C3875321 Abnormal tendency to infections of the skin Inflammatory abnormality of the skin Skin inflammation human_phenotype Inflammatory skin disease HP:0011123 Inflammatory abnormality of the skin HP:0011123 The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. https://orcid.org/0000-0002-0736-9199 Inflammatory abnormality of the skin Skin inflammation An abnormality of the morphology of the epidermis. 2011-06-12T10:11:28Z UMLS:C4023526 Abnormality of epidermal morphology human_phenotype HP:0011124 Abnormal epidermal morphology HP:0011124 An abnormality of the morphology of the epidermis. https://orcid.org/0000-0002-0736-9199 An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). 2011-06-12T10:19:27Z UMLS:C4023525 Abnormality of dermal melanosomes human_phenotype HP:0011125 Abnormal dermal melanosome morphology HP:0011125 An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis). https://orcid.org/0000-0002-0736-9199 A significant descent of the kidney as the patient moves from the supine to the erect position. 2011-06-16T07:34:25Z UMLS:C1384594 Floating kidney Renal ptosis human_phenotype HP:0011126 Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. Nephroptosis HP:0011126 A significant descent of the kidney as the patient moves from the supine to the erect position. PMID:18990154 https://orcid.org/0000-0002-0736-9199 Floating kidney https://orcid.org/0000-0001-6908-9849 Renal ptosis https://orcid.org/0000-0001-6908-9849 A type of eczema that occurs in the lips and perioral area. 2011-06-16T07:41:19Z UMLS:C1396126 Eczema around the mouth human_phenotype HP:0011127 Perioral eczema mainly affects children. Perioral eczema HP:0011127 A type of eczema that occurs in the lips and perioral area. https://orcid.org/0000-0002-0736-9199 Eczema around the mouth https://orcid.org/0000-0001-6908-9849 A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. 2011-06-18T08:48:53Z UMLS:C4023524 human_phenotype HP:0011128 Acute esophageal necrosis HP:0011128 A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction. PMID:17322991 https://orcid.org/0000-0002-0736-9199 A bilateral form of fetal pyelectasis. 2011-06-19T10:00:34Z UMLS:C4023523 Bilateral fetal pyelectasia Bilateral foetal pyelectasia Bilateral foetal pyelectasis human_phenotype HP:0011129 Bilateral fetal pyelectasis HP:0011129 A bilateral form of fetal pyelectasis. https://orcid.org/0000-0002-0736-9199 Bilateral foetal pyelectasia Bilateral foetal pyelectasis Any abnormality of the morphology of the major calices or minor calices of the kidney. 2011-06-19T10:06:45Z UMLS:C4023522 Abnormality of renal calyx morphology human_phenotype HP:0011130 Abnormal renal calyx morphology HP:0011130 Any abnormality of the morphology of the major calices or minor calices of the kidney. https://orcid.org/0000-0002-0736-9199 The presence of a rash (change of color and texture) of the perianal skin. 2011-06-19T12:16:41Z UMLS:C0240705 Perianal rash human_phenotype HP:0011131 Perianal dermatitis HP:0011131 The presence of a rash (change of color and texture) of the perianal skin. https://orcid.org/0000-0002-0736-9199 Perianal rash A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. 2011-06-19T10:25:47Z UMLS:C4023521 human_phenotype HP:0011132 Note that a confluence of several furuncles results in a carbuncle. Chronic furunculosis HP:0011132 A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. https://orcid.org/0000-0002-0736-9199 An abnormally increased sensitivity to the effects of ionizing radiation. 2011-06-19T11:04:20Z UMLS:C4021850 Increased sensitivity to ionizing radiation human_phenotype HP:0011133 Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. Increased sensitivity to ionizing radiation HP:0011133 An abnormally increased sensitivity to the effects of ionizing radiation. https://orcid.org/0000-0002-0736-9199 Increased sensitivity to ionizing radiation https://orcid.org/0000-0001-6908-9849 Mild fever that does not exceed 38.5 degrees centigrade. 2011-06-19T12:19:44Z SNOMEDCT_US:304213008 UMLS:C0239574 Low-grade fever Mild fever human_phenotype HP:0011134 Low-grade fever HP:0011134 Mild fever that does not exceed 38.5 degrees centigrade. https://orcid.org/0000-0002-0736-9199 Low-grade fever Mild fever https://orcid.org/0000-0001-6908-9849 Absence or developmental hypoplasia of the sweat glands. 2011-06-19T02:01:50Z UMLS:C4023520 Absent/small sweat glands Absent/underdeveloped sweat glands human_phenotype HP:0011135 Aplasia/Hypoplasia of the sweat glands HP:0011135 Absence or developmental hypoplasia of the sweat glands. https://orcid.org/0000-0002-0736-9199 Absent/small sweat glands https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped sweat glands https://orcid.org/0000-0001-5208-3432 Absence of the sweat glands. 2011-06-19T02:06:44Z UMLS:C2677485 Absent sweat glands Lack of sweat glands human_phenotype HP:0011136 Aplasia of the sweat glands HP:0011136 Absence of the sweat glands. https://orcid.org/0000-0002-0736-9199 Absent sweat glands Lack of sweat glands Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. 2011-06-19T02:17:55Z UMLS:C4023519 Non-itchy hives human_phenotype HP:0011137 Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. Non-pruritic urticaria HP:0011137 Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus. https://orcid.org/0000-0002-0736-9199 Non-itchy hives https://orcid.org/0000-0001-6908-9849 An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. 2011-06-19T06:25:34Z UMLS:C4023518 Abnormal skin appendage Abnormality of skin adnexa morphology human_phenotype HP:0011138 Abnormal skin adnexa morphology HP:0011138 An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. https://orcid.org/0000-0002-0736-9199 Abnormal skin appendage https://orcid.org/0000-0001-5208-3432 Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. 2011-06-25T08:57:09Z UMLS:C4021201 Gastric duplication cyst human_phenotype HP:0011139 Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. Gastric duplication HP:0011139 Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach. https://orcid.org/0000-0002-0736-9199 A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. 2011-06-25T09:02:50Z SNOMEDCT_US:33257003 UMLS:C0266019 GI duplication human_phenotype HP:0011140 Gastrointestinal duplication HP:0011140 A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus. PMID:21218094 https://orcid.org/0000-0002-0736-9199 GI duplication A type of cataract (opacification of the lens) that forms during the course of aging. 2011-06-27T09:41:38Z SNOMEDCT_US:39450006 UMLS:C0036646 Clouding of the lens of the eye with age human_phenotype HP:0011141 The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibers throughout life, so with increasing age the lens becomes more compact and thicker. Age-related cataract HP:0011141 A type of cataract (opacification of the lens) that forms during the course of aging. PMID:15708105 https://orcid.org/0000-0002-0736-9199 Clouding of the lens of the eye with age https://orcid.org/0000-0001-5208-3432 A type of age-related cataract that primarily affects the nucleus of the lens. 2011-06-27T09:49:20Z UMLS:C1832423 human_phenotype HP:0011142 As the lens ages, new layers of fibers are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. Age-related nuclear cataract HP:0011142 A type of age-related cataract that primarily affects the nucleus of the lens. PMID:15708105 https://orcid.org/0000-0002-0736-9199 A type of age-related cataract that primarily affects the cortex of the lens. 2011-06-27T09:50:54Z UMLS:C2880562 human_phenotype HP:0011143 The cortex of the lens is made of the newest lens fibers. With aging, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. Age-related cortical cataract HP:0011143 A type of age-related cataract that primarily affects the cortex of the lens. PMID:15708105 https://orcid.org/0000-0002-0736-9199 A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. 2011-06-27T09:52:45Z UMLS:C4023517 human_phenotype HP:0011144 Age-related posterior subcapsular cataract HP:0011144 A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule. PMID:15708105 https://orcid.org/0000-0002-0736-9199 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. 2011-10-18T01:40:33Z UMLS:C4023516 human_phenotype HP:0011145 While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed. Symptomatic seizures HP:0011145 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. PMID:18184148 A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. 2011-10-18T01:47:30Z Behavioral arrest seizure with impairment of awareness irrespective of onset Behavioural arrest seizure with impairment of awareness irrespective of onset Unknown onset behavioral arrest seizure with impairment of awareness Unknown onset behavioural arrest seizure with impairment of awareness human_phenotype HP:0011146 The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Dialeptic seizure HP:0011146 A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. PMID:9738682 Behavioural arrest seizure with impairment of awareness irrespective of onset Unknown onset behavioural arrest seizure with impairment of awareness A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. 2011-10-18T01:52:22Z SNOMEDCT_US:230413002 SNOMEDCT_US:432241000124101 SNOMEDCT_US:50866000 SNOMEDCT_US:79631006 UMLS:C0014553 Typical absence Typical absence seizures human_phenotype HP:0011147 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. Typical absence seizure HP:0011147 A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276062 PMID:28276064 PMID:6790275 Typical absence seizures HP:0002121 2011-10-18T01:56:54Z human_phenotype HP:0011148 obsolete Absence seizures with special features true HP:0011148 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. 2011-10-18T02:03:21Z UMLS:C4023513 Absence seizures with eyelid myoclonia human_phenotype HP:0011149 This type of seizure was classified as a type of generalized non-motor seizure by the ILAE in 2017 because the absence predominates over the eyelid myoclonia. However, eyelid myoclonia can occur as a generalized-onset seizure without any absence, in which they may be better considered a motor seizure: see Eyelid myoclonia seizure. Absence seizure with eyelid myoclonia HP:0011149 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. HPO_CONTRIBUTOR:jalbers PMID:19469840 PMID:28276060 PMID:28276062 PMID:28276064 Absence seizures with eyelid myoclonia Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. 2011-10-18T02:04:35Z UMLS:C4023512 Myoclonic absence Myoclonic absences human_phenotype HP:0011150 Myoclonic absence seizure HP:0011150 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. PMID:28276060 PMID:28276062 PMID:28276064 PMID:9637609 https://orcid.org/0000-0001-8486-0558 Myoclonic absences Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. 2011-10-18T02:09:55Z UMLS:C4023511 Obtundation status human_phenotype HP:0011151 In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. This form of seizure may be observed in Lennox-Gastaut syndrome. Atypical absence status epilepticus HP:0011151 Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. HPO_CONTRIBUTOR:jalbers Typical absence seizures starting before the age of 4 years. 2011-10-18T02:12:41Z UMLS:C4023510 Early onset petit mal seizures human_phenotype HP:0011152 Early onset absence seizures HP:0011152 Typical absence seizures starting before the age of 4 years. https://orcid.org/0000-0001-8486-0558 Early onset petit mal seizures https://orcid.org/0000-0001-6908-9849 A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. 2011-10-18T02:33:17Z SNOMEDCT_US:128612007 SNOMEDCT_US:82401000 UMLS:C0016399 Focal motor seizures Localised motor seizure Localised motor seizures Localized motor seizure Localized motor seizures Partial motor seizure Partial motor seizures Segmental motor seizure human_phenotype HP:0011153 A motor onset seizure involves motor activity (movement) and may be due to either an increase or decrease in contraction in a muscle or group of muscles. Depending on the muscle groups involved and the way they are affected, the movement features of a motor onset seizure may be simple or more complex. Focal motor seizure HP:0011153 A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. HPO_CONTRIBUTOR:jalbers PMID:11580774 PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-1735-8178 Focal motor seizures Localised motor seizure Localised motor seizures Localized motor seizures https://orcid.org/0000-0001-6908-9849 Partial motor seizures https://orcid.org/0000-0001-6908-9849 An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. 2011-10-18T02:23:31Z HP:0011164 UMLS:C4023509 Focal autonomic seizures human_phenotype HP:0011154 Focal seizures with a subjective or objectively documented alteration of autonomic nervous system function at onset, involving but not limited to, cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions. Focal autonomic seizure is not a child of Epileptic aura (HP:0033348) as many Focal autonomic seizures are not purely subjective (required to be called an aura). Focal autonomic seizure HP:0011154 An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 Focal autonomic seizures HP:0032755 2011-10-18T02:24:09Z human_phenotype HP:0011155 obsolete Focal autonomic seizures with altered responsiveness true HP:0011155 HP:0032740 2011-10-18T02:24:42Z human_phenotype HP:0011156 obsolete Focal autonomic seizures without altered responsiveness true HP:0011156 A focal sensory seizure is a type seizure beginning with a subjective sensation. 2011-10-18T02:26:40Z SNOMEDCT_US:18618006 UMLS:C0236018 Focal sensory seizures Partial sensory seizure Sensory aura human_phenotype HP:0011157 A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer. Focal sensory seizure HP:0011157 A focal sensory seizure is a type seizure beginning with a subjective sensation. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276062 PMID:28276064 https://orcid.org/0000-0002-1511-5893 Focal sensory seizures A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. 2011-10-18T02:26:59Z UMLS:C1838063 Auditory aura Focal auditory seizure Focal sensory auditory seizure Partial auditory seizure human_phenotype HP:0011158 More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. Focal sensory seizure with auditory features HP:0011158 A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers PMID:28276062 PMID:28276064 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. 2011-10-18T02:27:58Z UMLS:C4023506 Abdominal aura Epigastric aura Epigastric auras Localised seizure with epigastric sensation Localized seizure with epigastric sensation Partial seizure with epigastric sensation Visceral aura human_phenotype HP:0011159 This includes epigastric sensations (which may rise up to the chest or throat) such as upper abdominal discomfort, emptiness, tightness, churning, or hunger, as well as ictal nausea and ictal vomiting. Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0011159 A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. HPO_CONTRIBUTOR:jalbers PMID:28276060 Abdominal aura https://orcid.org/0000-0001-6908-9849 Epigastric auras Visceral aura https://orcid.org/0000-0001-6908-9849 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. 2011-10-18T02:28:36Z SNOMEDCT_US:29139005 UMLS:C0233766 Focal gustatory seizure Focal sensory gustatory seizure Gustatory aura Gustatory auras Partial gustatory seizure Taste hallucinations human_phenotype HP:0011160 These seizures involve the parietal operculum and the insula. Focal sensory seizure with gustatory features HP:0011160 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers PMID:28276060 Gustatory auras Taste hallucinations http://medical-dictionary.thefreedictionary.com/gustatory+aura https://orcid.org/0000-0001-5208-3432 Seizures characterized by olfactory phenomena as its first clinical manifestation. 2011-10-18T02:28:55Z UMLS:C4023504 Focal olfactory seizure Olfactory aura Olfactory auras Partial olfactory seizure human_phenotype HP:0011161 These seizures involve the mesial temporal or orbitofrontal regions. Focal sensory seizure with olfactory features HP:0011161 Seizures characterized by olfactory phenomena as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers Olfactory auras HP:0032680 2011-10-18T02:29:23Z human_phenotype HP:0011162 obsolete Psychic auras true HP:0011162 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. 2011-10-18T02:29:52Z UMLS:C4023502 Focal somatosensory seizure Partial somatosensory seizure Somatosensory aura Somatosensory auras human_phenotype HP:0011163 These seizures involve the sensorimotor cortex. Focal sensory seizure with somatosensory features HP:0011163 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers PMID:28276060 Somatosensory auras HP:0011154 2011-10-18T02:30:10Z human_phenotype HP:0011164 obsolete Vegetative auras true HP:0011164 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. 2011-10-18T02:31:15Z HP:0007175 HP:0025121 UMLS:C1850765 Focal visual seizure Partial visual seizure Visual aura Visual auras human_phenotype Simple partial occipital seizures HP:0011165 More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. Focal sensory seizure with visual features HP:0011165 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. HPO_CONTRIBUTOR:jalbers Visual auras A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. 2011-10-18T02:34:14Z HP:0025191 UMLS:C4023501 Focal myoclonic seizures Local myoclonic seizures Localised myoclonic seizure Localized myoclonic seizure Partial myoclonic seizure Partial myoclonic seizures Segmental myoclonic seizure Segmental myoclonic seizures human_phenotype HP:0011166 Focal myoclonic seizure HP:0011166 A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. PMID:11580774 PMID:28276060 PMID:28276064 Focal myoclonic seizures Local myoclonic seizures https://orcid.org/0000-0001-6908-9849 Partial myoclonic seizures https://orcid.org/0000-0001-6908-9849 Segmental myoclonic seizures A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. 2011-10-18T02:35:03Z UMLS:C0752324 Focal tonic seizures Local tonic seizures Localised tonic seizure Localized tonic seizure Partial tonic seizure Partial tonic seizures Segmental tonic seizure human_phenotype HP:0011167 The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal dystonic seizure. Focal tonic seizure HP:0011167 A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. HPO_CONTRIBUTOR:jalbers PMID:11580774 PMID:28276060 PMID:28276064 Focal tonic seizures Local tonic seizures https://orcid.org/0000-0001-6908-9849 Partial tonic seizures https://orcid.org/0000-0001-6908-9849 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. 2011-10-18T02:39:07Z UMLS:C4023500 Eyelid myoclonias human_phenotype HP:0011168 Focal seizure with eyelid myoclonia HP:0011168 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. https://orcid.org/0000-0001-8486-0558 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. 2011-11-19T09:53:43Z UMLS:C4023499 Generalised clonic seizure Generalised clonic seizures Generalised onset clonic seizure Generalised-onset clonic seizure Generalized clonic seizures Generalized onset clonic seizure Generalized-onset clonic seizure human_phenotype HP:0011169 Generalized clonic seizures are much less common than are tonic-clonic seizures, usually occur in infants, and should be distinguished from jitteriness or shuddering attacks. Generalized clonic seizure HP:0011169 Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 Generalised clonic seizures Generalized clonic seizures A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. 2011-11-19T10:00:46Z SNOMEDCT_US:230421008 UMLS:C0393702 Generalised myoclonic-atonic seizure Myoclonic atonic seizures Myoclonic-astatic seizure human_phenotype HP:0011170 A myoclonic-tonic seizure was previously called a myoclonic-astatic seizure. ILAE2017 does not currently consider myoclonic-atonic seizures to be a form of myoclonic seizure which is why it is classified as a motor seizure. Generalized myoclonic-atonic seizure HP:0011170 A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. HPO_CONTRIBUTOR:jalbers PMID:28276060 PMID:28276064 Myoclonic atonic seizures A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. 2011-11-19T10:09:04Z SNOMEDCT_US:432354000 UMLS:C0149886 Simple febrile convulsion Simple febrile seizures Simple fever fit human_phenotype HP:0011171 Fever may not be detected before the seizure, but it must be present at least in the immediate postacute period. In most cases these seizures are of a generalized tonic-clonic semiology. Simple febrile seizure HP:0011171 A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. HPO_CONTRIBUTOR:jalbers PMID:19125841 PMID:6779259 PMID:972656 Simple febrile convulsion https://en.wikipedia.org/wiki/febrile_seizure https://orcid.org/0000-0001-5208-3432 Simple febrile seizures Simple fever fit https://en.wikipedia.org/wiki/febrile_seizure https://orcid.org/0000-0001-5208-3432 A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. 2011-11-19T10:10:00Z SNOMEDCT_US:433083002 UMLS:C0751057 Complex febrile convulsion Complex febrile seizures Complex fever fit human_phenotype HP:0011172 Children presenting with a prolonged seizure stopped with anticonvulsive therapy (i.e., diazepam) before the 15th minute should be classified within this group. Complex febrile seizure HP:0011172 A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. HPO_CONTRIBUTOR:jalbers PMID:19125841 PMID:972656 Complex febrile seizures A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. 2011-11-19T10:12:04Z UMLS:C4023498 Focal behaviour arrest seizure Focal hypokinetic seizure Hypokinetic seizure Hypokinetic seizures Localised seizure with behavioral arrest Localised seizure with behavioural arrest Localized seizure with behavioral arrest Partial hypokinetic seizure Partial seizure with behavior arrest Partial seizure with behaviour arrest human_phenotype HP:0011173 The word 'focal' is explicit in the term title to emphasize the difference between these seizures and absence (generalized non-motor) seizures. Because brief behavior arrest is common and difficult to identify at the start of many seizures, the arrest must be persistent and dominant through the entire seizure. If the patient is able to identify that fear is the primary onset feature of the seizure, and results in immobility, the seizure is a focal emotional seizure with fear, and the immobility is then considered a descriptive feature, due to the fear. If the focal seizure is not characterized by this feature at the very outset of the seizure, it is not used to classify the seizure, it is instead used as a seizure descriptor, after the seizure is classified according to its onset feature. Focal behavior arrest seizure HP:0011173 A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure. HPO_CONTRIBUTOR:jalbers PMID:28276060 Focal behaviour arrest seizure Hypokinetic seizures Localised seizure with behavioural arrest Partial seizure with behaviour arrest A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. 2011-11-19T10:13:17Z UMLS:C4023497 Hyperkinetic seizures Localised hyperkinetic seizure Localized hyperkinetic seizure Partial hyperkinetic seizure Segmental hyperkinetic seizure human_phenotype HP:0011174 The 2017 ILAE classification arbitrarily groups pedaling activity with hyperkinetic seizures, rather than with automatism seizures. However, some automatisms overlap other motor behaviors and where pedaling is slow and coordinated it may be considered an automatism. Focal hyperkinetic seizure HP:0011174 A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. HPO_CONTRIBUTOR:jalbers PMID:11580774 PMID:28276060 PMID:28276064 Hyperkinetic seizures A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. 2011-11-19T10:14:54Z SNOMEDCT_US:246530009 UMLS:C0422846 Versive seizure Versive seizures human_phenotype HP:0011175 Focal motor seizure with version HP:0011175 A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation. HPO_CONTRIBUTOR:jalbers Versive seizures An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. 2011-11-19T10:18:43Z UMLS:C4023496 human_phenotype HP:0011176 EEG with constitutional variants HP:0011176 An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic. HPO_CONTRIBUTOR:jalbers EEG background activity at 4-5/second. 2011-11-19T10:20:59Z UMLS:C4023495 human_phenotype HP:0011177 EEG background activity at 4-5/second is rare and unusual but not generally pathologic. EEG with 4-5/second background activity HP:0011177 EEG background activity at 4-5/second. HPO_CONTRIBUTOR:jalbers EEG dominated by diffuse alpha-waves (8-13Hz). 2011-11-19T10:23:53Z UMLS:C4023494 human_phenotype HP:0011178 Alpha-EEG is a rare finding but not generally pathologic. Alpha-EEG HP:0011178 EEG dominated by diffuse alpha-waves (8-13Hz). HPO_CONTRIBUTOR:jalbers EEG dominated by diffuse beta-waves (>13 Hz). 2011-11-19T10:25:00Z UMLS:C4023493 Beta wave electroencephalography human_phenotype HP:0011179 Beta-EEG is a rare finding but not generally pathologic. Beta-EEG HP:0011179 EEG dominated by diffuse beta-waves (>13 Hz). HPO_CONTRIBUTOR:jalbers Beta wave electroencephalography https://orcid.org/0000-0001-6908-9849 EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). 2011-11-19T10:25:50Z UMLS:C4023492 human_phenotype HP:0011180 A partial beta-EEG is a rare finding but not generally pathologic. Partial beta-EEG HP:0011180 EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz). HPO_CONTRIBUTOR:jalbers EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). 2011-11-19T10:27:20Z UMLS:C1851759 human_phenotype HP:0011181 A low voltage EEG is a rare finding but not generally pathologic. Low voltage EEG HP:0011181 EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz). HPO_CONTRIBUTOR:jalbers Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. 2011-11-19T10:32:25Z UMLS:C4023491 Epileptiform EEG discharges human_phenotype HP:0011182 Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. Interictal epileptiform activity HP:0011182 Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. https://orcid.org/0000-0002-0736-9199 Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2011-11-19T10:36:34Z UMLS:C4023490 human_phenotype HP:0011183 EEG with hyperventilation-induced focal epileptiform discharges HP:0011183 Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HPO_CONTRIBUTOR:jalbers Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2011-11-19T10:37:49Z UMLS:C4023489 EEG with hyperventilation-induced generalised epileptiform discharges human_phenotype HP:0011184 EEG with hyperventilation-induced generalized epileptiform discharges HP:0011184 Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HPO_CONTRIBUTOR:jalbers EEG with hyperventilation-induced generalised epileptiform discharges EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). 2011-11-19T10:39:02Z HP:0010840 UMLS:C4021199 Focal EEG Abnormality human_phenotype HP:0011185 Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). EEG with focal epileptiform discharges HP:0011185 EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). HPO_CONTRIBUTOR:jalbers Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. 2011-11-19T10:40:22Z UMLS:C4023488 human_phenotype HP:0011186 Focal epileptiform discharges with limited propagation to contralateral hemisphere HP:0011186 Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization. HPO_CONTRIBUTOR:jalbers Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. 2011-11-19T10:43:06Z UMLS:C4023487 human_phenotype HP:0011187 Focal EEG discharges with propagation to ipsilateral hemisphere HP:0011187 Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain. HPO_CONTRIBUTOR:jalbers Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. 2011-11-19T10:44:33Z UMLS:C4023486 Focal EEG discharges with secondary generalisation human_phenotype HP:0011188 Focal EEG discharges with secondary generalization HP:0011188 Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. HPO_CONTRIBUTOR:jalbers Focal EEG discharges with secondary generalisation Epileptiform discharges being identified at multiple locations in both hemispheres. 2011-11-19T10:47:23Z UMLS:C4023485 human_phenotype HP:0011189 Bilateral multifocal epileptiform discharges HP:0011189 Epileptiform discharges being identified at multiple locations in both hemispheres. HPO_CONTRIBUTOR:jalbers Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. 2011-11-19T10:48:14Z UMLS:C4023484 human_phenotype HP:0011190 Uni- and bilateral multifocal epileptiform discharges HP:0011190 Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. HPO_CONTRIBUTOR:jalbers Epileptiform discharges being identified at multiple locations in one hemisphere. 2011-11-19T10:48:51Z UMLS:C4023483 human_phenotype HP:0011191 Unilateral multifocal epileptiform discharges HP:0011191 Epileptiform discharges being identified at multiple locations in one hemisphere. HPO_CONTRIBUTOR:jalbers Focal epileptiform discharges of different shapes and frequencies. 2011-11-19T10:49:45Z UMLS:C4023482 human_phenotype HP:0011192 Polymorphic focal epileptiform discharges HP:0011192 Focal epileptiform discharges of different shapes and frequencies. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec. 2011-11-19T10:50:36Z UMLS:C4023481 human_phenotype HP:0011193 EEG with focal spikes HP:0011193 EEG with focal sharp transient waves of a duration less than 80 msec. HPO_CONTRIBUTOR:jalbers Focal spikes occurring for several seconds. 2011-11-19T10:51:41Z UMLS:C4023480 human_phenotype HP:0011194 EEG with series of focal spikes HP:0011194 Focal spikes occurring for several seconds. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2011-11-19T11:02:29Z UMLS:C4023479 human_phenotype HP:0011195 EEG with focal sharp slow waves HP:0011195 EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration between 80 and 200 msec. 2011-11-19T11:11:50Z UMLS:C4023478 human_phenotype HP:0011196 EEG with focal sharp waves HP:0011196 EEG with focal sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. 2011-11-19T11:12:45Z UMLS:C4023477 human_phenotype HP:0011197 EEG with focal spike waves HP:0011197 EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. 2011-11-19T11:15:46Z HP:0010842 UMLS:C4023476 EEG with generalised epileptiform discharges human_phenotype HP:0011198 Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. EEG with generalized epileptiform discharges HP:0011198 EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. HPO_CONTRIBUTOR:jalbers EEG with generalised epileptiform discharges EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2011-11-19T11:17:38Z UMLS:C4023475 EEG with generalised sharp slow waves human_phenotype HP:0011199 EEG with generalized sharp slow waves HP:0011199 EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with generalised sharp slow waves Generalized epileptiform discharges of different shapes and frequencies. 2011-11-19T11:19:04Z UMLS:C4023474 EEG with generalised polymorphic epileptiform discharges human_phenotype HP:0011200 EEG with generalized polymorphic epileptiform discharges HP:0011200 Generalized epileptiform discharges of different shapes and frequencies. HPO_CONTRIBUTOR:jalbers EEG with generalised polymorphic epileptiform discharges EEG with abnormal amplitude. 2011-11-19T11:20:13Z UMLS:C4023473 human_phenotype HP:0011201 EEG with changes in voltage HP:0011201 EEG with abnormal amplitude. HPO_CONTRIBUTOR:jalbers EEG frequency is abnormally increased. 2011-11-19T11:23:55Z UMLS:C4023472 human_phenotype HP:0011202 EEG with diffuse acceleration HP:0011202 EEG frequency is abnormally increased. https://orcid.org/0000-0002-0736-9199 EEG with abnormally slow frequencies. 2011-11-19T11:26:47Z UMLS:C4023471 human_phenotype HP:0011203 EEG with abnormally slow frequencies HP:0011203 EEG with abnormally slow frequencies. HPO_CONTRIBUTOR:jalbers EEG showing diffuse slowing without interruption. 2011-11-19T11:28:47Z UMLS:C4023470 human_phenotype HP:0011204 EEG with continuous slow activity HP:0011204 EEG showing diffuse slowing without interruption. HPO_CONTRIBUTOR:jalbers Non-continuous diffuse slowing of electroencephalographic patterns. 2011-11-19T11:30:20Z UMLS:C4023469 human_phenotype HP:0011205 EEG with intermittent slow activity HP:0011205 Non-continuous diffuse slowing of electroencephalographic patterns. HPO_CONTRIBUTOR:jalbers Slowing at frequencies between 7.5 and 8.5 Hz. 2011-11-19T11:31:28Z UMLS:C4023468 EEG with generalised slow activity grade 1 human_phenotype HP:0011206 EEG with generalized slow activity grade 1 HP:0011206 Slowing at frequencies between 7.5 and 8.5 Hz. HPO_CONTRIBUTOR:jalbers EEG with generalised slow activity grade 1 Generalized slowing of EEG activity at frequencies between 4-7 Hz. 2011-11-19T12:42:03Z UMLS:C4023467 EEG with generalised slow activity grade 2 human_phenotype HP:0011207 EEG with generalized slow activity grade 2 HP:0011207 Generalized slowing of EEG activity at frequencies between 4-7 Hz. HPO_CONTRIBUTOR:jalbers EEG with generalised slow activity grade 2 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. 2011-11-19T12:44:11Z UMLS:C4023466 EEG with generalised slow activity grade 3 human_phenotype HP:0011208 EEG with generalized slow activity grade 3 HP:0011208 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz. HPO_CONTRIBUTOR:jalbers EEG with generalised slow activity grade 3 EEG without electrical activity. 2011-11-19T12:46:05Z UMLS:C4021198 EEG with generalised slow activity grade 4 Flat line EEG human_phenotype HP:0011209 EEG with generalized slow activity grade 4 HP:0011209 EEG without electrical activity. HPO_CONTRIBUTOR:jalbers EEG with generalised slow activity grade 4 Slowing in occipital areas of the scalp EEG. 2011-11-19T12:55:32Z UMLS:C4023465 human_phenotype HP:0011210 EEG with occipital slowing HP:0011210 Slowing in occipital areas of the scalp EEG. HPO_CONTRIBUTOR:jalbers Occurrence of epileptiform discharges in occipital regions during photic stimulation. 2011-11-19T12:59:07Z UMLS:C4023464 human_phenotype HP:0011211 EEG with photoparoxysmal response grade I HP:0011211 Occurrence of epileptiform discharges in occipital regions during photic stimulation. HPO_CONTRIBUTOR:jalbers Occurrence of epileptiform discharges in occipital and central regions during photic stimulation. 2011-11-19T12:59:32Z UMLS:C4023463 human_phenotype HP:0011212 EEG with photoparoxysmal response grade II HP:0011212 Occurrence of epileptiform discharges in occipital and central regions during photic stimulation. HPO_CONTRIBUTOR:jalbers Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. 2011-11-19T12:59:57Z UMLS:C4023462 human_phenotype HP:0011213 EEG with photoparoxysmal response grade III HP:0011213 Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation. HPO_CONTRIBUTOR:jalbers Occurrence of generalized epileptiform discharges during photic stimulation. 2011-11-19T01:01:38Z UMLS:C4023461 human_phenotype HP:0011214 EEG with photoparoxysmal response grade IV HP:0011214 Occurrence of generalized epileptiform discharges during photic stimulation. HPO_CONTRIBUTOR:jalbers Hypsarrhythmia occurring in one hemisphere. 2011-11-29T07:42:18Z UMLS:C4023460 human_phenotype HP:0011215 Hemihypsarrhythmia HP:0011215 Hypsarrhythmia occurring in one hemisphere. HPO_CONTRIBUTOR:jalbers true HP:0011216 An abnormal shape of occiput. 2011-12-03T10:14:06Z Abnormal shape of posterior head Abnormal shape of the back of the head UMLS:C4023459 Abnormal shape of posterior cranium Abnormal shape of posterior skull Abnormal shape of the back of the skull human_phenotype HP:0011217 Abnormal shape of the occiput HP:0011217 An abnormal shape of occiput. https://orcid.org/0000-0002-0736-9199 Abnormal shape of posterior head https://orcid.org/0000-0001-5889-4463 Abnormal shape of the back of the head https://orcid.org/0000-0001-5889-4463 Abnormal shape of posterior cranium https://orcid.org/0000-0001-5889-4463 Abnormal shape of posterior skull https://orcid.org/0000-0001-5889-4463 Abnormal shape of the back of the skull https://orcid.org/0000-0001-5889-4463 An abnormal shape of the frontal part of the head. 2011-12-03T10:26:03Z UMLS:C4023458 Abnormal morphology of the frontal region Abnormal shape of the forehead Dysmorphic forehead Dysmorphic frontal region human_phenotype HP:0011218 Abnormal shape of the frontal region HP:0011218 An abnormal shape of the frontal part of the head. https://orcid.org/0000-0002-0736-9199 Abnormal morphology of the frontal region https://orcid.org/0000-0001-5889-4463 Abnormal shape of the forehead https://orcid.org/0000-0001-5889-4463 Dysmorphic forehead https://orcid.org/0000-0001-5889-4463 Dysmorphic frontal region https://orcid.org/0000-0001-5889-4463 Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). 2011-12-07T09:01:18Z UMLS:C4023457 Decreased height of face Decreased length of face Decreased vertical dimension of face Short face Short facies Vertical Facial Deficiency Vertical deficiency of face Vertical facial insufficiency Vertical hypoplasia of face Vertical insufficiency of face Vertical shortening of face human_phenotype HP:0011219 Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. Short face HP:0011219 Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). PMID:19125436 Decreased height of face https://orcid.org/0000-0001-5889-4463 Decreased length of face https://orcid.org/0000-0001-5889-4463 Decreased vertical dimension of face https://orcid.org/0000-0001-5889-4463 Short face Short facies https://orcid.org/0000-0001-5889-4463 Vertical Facial Deficiency https://orcid.org/0000-0001-5889-4463 Vertical deficiency of face https://orcid.org/0000-0001-5889-4463 Vertical facial insufficiency https://orcid.org/0000-0001-5889-4463 Vertical hypoplasia of face https://orcid.org/0000-0001-5889-4463 Vertical insufficiency of face https://orcid.org/0000-0001-5889-4463 Vertical shortening of face https://orcid.org/0000-0001-5889-4463 Forward prominence of the entire forehead, due to protrusion of the frontal bone. 2011-12-07T09:49:36Z HP:0200061 UMLS:C1837260 UMLS:C1867446 Prominence of frontal region Prominent forehead Pronounced forehead Protruding forehead human_phenotype Bulging forehead HP:0011220 Not to be confused with frontal bossing. Prominent forehead HP:0011220 Forward prominence of the entire forehead, due to protrusion of the frontal bone. PMID:19125436 Prominence of frontal region https://orcid.org/0000-0001-5889-4463 Prominent forehead Pronounced forehead https://orcid.org/0000-0001-5889-4463 Protruding forehead Bulging forehead Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. 2011-12-07T09:55:15Z UMLS:C4023456 Frontal creases of face Vertical forehead creases Vertical forehead rhytids Vertical forehead wrinkles human_phenotype HP:0011221 Vertical forehead creases HP:0011221 Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. PMID:19125436 Frontal creases of face https://orcid.org/0000-0001-5889-4463 Vertical forehead creases Vertical forehead wrinkles Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. 2011-12-07T10:03:30Z UMLS:C4023455 Concave glabella Deficiency of glabella Deficient area between the eyebrows Flat area between the eyebrows Flat glabella Hypoplasia of glabella human_phenotype HP:0011222 The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. Depressed glabella HP:0011222 Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. PMID:19125436 https://orcid.org/0000-0002-0736-9199 Deficient area between the eyebrows https://orcid.org/0000-0001-5889-4463 Flat area between the eyebrows https://orcid.org/0000-0001-5889-4463 Linear vertical groove in the midline of the forehead, extending from hairline to glabella. 2011-12-07T10:34:38Z UMLS:C4023454 Depression of frontal cranial suture Depression of metopic cranial suture Frontal suture depression human_phenotype HP:0011223 Metopic depression HP:0011223 Linear vertical groove in the midline of the forehead, extending from hairline to glabella. PMID:19125436 Depression of frontal cranial suture https://orcid.org/0000-0001-5889-4463 Depression of metopic cranial suture https://orcid.org/0000-0001-5889-4463 Frontal suture depression https://orcid.org/0000-0001-5889-4463 Absent eyelids. 2011-12-13T07:58:12Z HP:0009925 SNOMEDCT_US:13401001 SNOMEDCT_US:708541009 UMLS:C0266574 UMLS:C4020757 Ablepharon of eyelid Absent eyelids Agenesis of eyelids Missing eyelids human_phenotype Aplasia of the eyelids HP:0011224 In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. Ablepharon HP:0011224 Absent eyelids. PMID:19125427 Absent eyelids Agenesis of eyelids https://orcid.org/0000-0001-5889-4463 Missing eyelids https://orcid.org/0000-0001-5889-4463 Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. 2011-12-13T08:28:48Z SNOMEDCT_US:253212001 UMLS:C0344503 human_phenotype HP:0011225 Epiblepharon should be distinguished from entropion. Epiblepharon HP:0011225 Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. PMID:19125427 Absence or underdevelopment of the eyelid. 2011-12-13T08:38:23Z UMLS:C4023453 Failure of development of eyelid Hypotrophic eyelid human_phenotype HP:0011226 Aplasia/Hypoplasia of the eyelid HP:0011226 Absence or underdevelopment of the eyelid. https://orcid.org/0000-0002-0736-9199 Failure of development of eyelid https://orcid.org/0000-0001-5889-4463 Hypotrophic eyelid https://orcid.org/0000-0001-5889-4463 The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. 2011-12-13T11:04:10Z UMLS:C0742906 UMLS:C4023452 Elevated C-reactive protein concentration Elevated C-reactive protein level Elevated C-reactive protein level in blood Elevated circulating C-reactive protein concentration Increased C-reactive protein concentration Increased C-reactive protein level Increased C-reactive protein level in blood human_phenotype Elevated CRP HP:0011227 C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. Elevated circulating C-reactive protein concentration HP:0011227 An eyebrow that extends straight across the brow, without curve. 2011-12-14T08:18:29Z Lack of eyebrow arch Lack of eyebrow curvature UMLS:C3277019 Flat eyebrow Horizontal eyebrow Straight eyebrow human_phenotype Straight eyebrows HP:0011228 Horizontal eyebrow HP:0011228 An eyebrow that extends straight across the brow, without curve. PMID:19125427 Lack of eyebrow arch https://orcid.org/0000-0001-5889-4463 Lack of eyebrow curvature https://orcid.org/0000-0001-5889-4463 Flat eyebrow https://orcid.org/0000-0001-5889-4463 Horizontal eyebrow Straight eyebrow Straight eyebrows https://orcid.org/0000-0002-5316-1399 Regional increase in the width (height) of the eyebrow. 2011-12-14T08:21:26Z UMLS:C1856121 Broad eyebrow Broad eyebrows Flared eyebrow Increased vertical height of eyebrow Increased vertical thickness of eyebrow human_phenotype Flared eyebrows Increased vertical width of eyebrow HP:0011229 Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. Broad eyebrow HP:0011229 Regional increase in the width (height) of the eyebrow. PMID:19125427 Broad eyebrow Broad eyebrows https://orcid.org/0000-0002-5316-1399 Flared eyebrow Increased vertical height of eyebrow https://orcid.org/0000-0001-5889-4463 Increased vertical thickness of eyebrow https://orcid.org/0000-0001-5889-4463 Flared eyebrows https://orcid.org/0000-0002-5316-1399 Increased vertical width of eyebrow https://orcid.org/0000-0001-5889-4463 An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. 2011-12-14T08:27:22Z UMLS:C4023451 Increased lateral length of eyebrow Laterally elongated eyebrow Laterally extended eyebrows human_phenotype HP:0011230 The degree of extension beyond the obital rim that is considered abnormal has not been established. Laterally extended eyebrow HP:0011230 An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. PMID:19125427 Increased lateral length of eyebrow https://orcid.org/0000-0001-5889-4463 Laterally elongated eyebrow https://orcid.org/0000-0001-5889-4463 Laterally extended eyebrows Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. 2011-12-14T08:31:24Z UMLS:C1835802 UMLS:C4023450 Prominent eyelashes Thick eyelashes human_phenotype HP:0011231 Prominent eyelashes HP:0011231 Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. PMID:19125427 Prominent eyelashes Thick eyelashes https://orcid.org/0000-0001-5889-4463 Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. 2011-12-14T07:00:48Z UMLS:C4023449 Infraorbital fold human_phenotype Dennie-Morgan fold HP:0011232 This term excludes epicanthus inversus. Infra-orbital fold HP:0011232 Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. PMID:19125427 Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. 2011-12-15T07:03:37Z UMLS:C4021197 Conchal shelf human_phenotype HP:0011233 In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. Antihelical shelf HP:0011233 Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha. PMID:19152421 No discernible ridge between concha and triangular fossa and helix. 2011-12-15T07:09:03Z UMLS:C4023448 human_phenotype HP:0011234 This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. Absent antihelix HP:0011234 Supernumerary ridge or crus of the ear arising from the antihelix. 2011-12-15T07:16:54Z UMLS:C4023447 human_phenotype HP:0011235 The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. Additional crus of antihelix HP:0011235 Supernumerary ridge or crus of the ear arising from the antihelix. PMID:19152421 Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. 2011-12-18T10:42:17Z UMLS:C4023446 human_phenotype HP:0011236 Angulated antihelix HP:0011236 Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. PMID:19152421 Increased width of the inferred cross-section of the inferior crus. 2011-12-18T10:46:34Z UMLS:C4021196 Antihelix, inferior crus, broad human_phenotype HP:0011237 This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. Broad inferior crus of antihelix HP:0011237 Increased width of the inferred cross-section of the inferior crus. PMID:19152421 Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. 2011-12-18T11:24:43Z UMLS:C4021195 Antihelix, inferior crus, prominent Hyperplastic inferior crus of antihelix Hypertrophic inferior crus of antihelix human_phenotype HP:0011238 Prominent inferior crus of antihelix HP:0011238 Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. 2011-12-18T11:27:15Z UMLS:C4021194 Antihelix, inferior crus, underdeveloped Hypoplastic inferior crus of antihelix Hypotrophic inferior crus of antihelix human_phenotype HP:0011239 This finding is highly variable. Underdeveloped inferior crus of antihelix HP:0011239 Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem. PMID:19152421 Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. 2011-12-18T11:32:08Z UMLS:C4020910 Hyperplastic antihelix stem Hypertrophic antihelix stem human_phenotype HP:0011240 This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. Prominent stem of antihelix HP:0011240 Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix. PMID:19152421 Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. 2011-12-18T11:35:53Z UMLS:C4021193 Antihelix, stem, serpiginous human_phenotype HP:0011241 Serpiginous stem of antihelix HP:0011241 Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha. PMID:19152421 Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. 2011-12-18T11:38:15Z UMLS:C4021192 Antihelix, stem, underdeveloped human_phenotype HP:0011242 The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. Underdeveloped stem of antihelix HP:0011242 Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix. PMID:19152421 An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. 2011-12-18T11:41:44Z UMLS:C4021191 Abnormality of anterior crus of antihelix human_phenotype HP:0011243 The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. Abnormality of inferior crus of antihelix HP:0011243 An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. PMID:19152421 https://orcid.org/0000-0002-0736-9199 An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. 2011-12-18T11:50:01Z UMLS:C4023445 human_phenotype HP:0011244 Abnormality of stem of antihelix HP:0011244 An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura. https://orcid.org/0000-0002-0736-9199 An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. 2011-12-18T11:52:06Z UMLS:C4021190 Abnormality of posterior crus of antihelix human_phenotype HP:0011245 The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. Abnormality of superior crus of antihelix HP:0011245 An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. 2011-12-18T12:00:18Z UMLS:C4021189 Hypoplastic superior crus of antihelix Hypotrophic superior crus of antihelix human_phenotype HP:0011246 This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. Underdeveloped superior crus of antihelix HP:0011246 Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. PMID:19152421 Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. 2011-12-18T12:02:57Z UMLS:C4021188 Hyperplastic superior crus of antihelix Hypertrophic superior crus of antihelix human_phenotype HP:0011247 This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. Prominent superior crus of antihelix HP:0011247 Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. PMID:19152421 Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). 2011-12-18T12:11:37Z UMLS:C4023444 human_phenotype HP:0011248 Everted antitragus HP:0011248 Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear). PMID:19152421 Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. 2011-12-18T12:13:00Z UMLS:C4023443 human_phenotype HP:0011249 The size of the antitragus is highly variable. Absent antitragus HP:0011249 Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. PMID:19152421 Double rather than single peak of the antitragus. 2011-12-18T12:14:26Z UMLS:C4021187 Double antitragus human_phenotype HP:0011250 Bifid antitragus HP:0011250 Double rather than single peak of the antitragus. PMID:19152421 Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. 2011-12-18T01:59:04Z UMLS:C4021186 Hypoplastic antitragus Hypotrophic antitragus Small antitragus human_phenotype HP:0011251 Underdeveloped antitragus HP:0011251 Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Invagination of the superior part of the auricle under a fold of temporal skin. 2011-12-18T02:12:10Z SNOMEDCT_US:429967001 UMLS:C2315717 Buried ear Hidden ear human_phenotype HP:0011252 There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. Cryptotia HP:0011252 Invagination of the superior part of the auricle under a fold of temporal skin. PMID:19152421 Buried ear https://orcid.org/0000-0001-5889-4463 Hidden ear https://orcid.org/0000-0001-5889-4463 A type of cryptotia associated with reduction in size of the antihelix and superior crus. 2011-12-18T02:14:49Z UMLS:C4023442 Type 1 cryptotia human_phenotype HP:0011253 Type I cryptotia HP:0011253 A type of cryptotia associated with reduction in size of the antihelix and superior crus. https://orcid.org/0000-0002-0736-9199 A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. 2011-12-18T02:15:48Z UMLS:C4023441 Type 2 cryptotia human_phenotype HP:0011254 Type II cryptotia HP:0011254 A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected. https://orcid.org/0000-0002-0736-9199 Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. 2011-12-18T05:50:59Z UMLS:C4021185 Helix, crus, absent human_phenotype HP:0011255 Absent crus of helix HP:0011255 Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. PMID:19152421 Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. 2011-12-18T05:51:54Z UMLS:C4021184 Helix, crus, connected to antihelix human_phenotype HP:0011256 Crus of helix connected to antihelix HP:0011256 Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix. PMID:19152421 Curving course of the crus of the helix, approaching or joining the antitragus. 2011-12-18T05:56:25Z UMLS:C4021183 Helix, crus, serpiginous human_phenotype HP:0011257 Serpiginous crus of helix HP:0011257 Curving course of the crus of the helix, approaching or joining the antitragus. PMID:19152421 The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. 2011-12-18T05:58:24Z UMLS:C4021182 Helix, crus, tragal bridge human_phenotype HP:0011258 Tragal bridge of crus of helix HP:0011258 The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix. PMID:19152421 Widening, rather than tapering, of the crus at its posterior border near the antihelix. 2011-12-18T06:00:07Z UMLS:C4021181 Helix, crus, expanded terminal portion human_phenotype HP:0011259 Expanded terminal portion of crus of helix HP:0011259 Widening, rather than tapering, of the crus at its posterior border near the antihelix. PMID:19152421 Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. 2011-12-18T06:01:45Z UMLS:C4021180 Helix, Darwin notch human_phenotype HP:0011260 Darwin notch of helix HP:0011260 Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix. PMID:19152421 Small expansion of the helical fold at the junction of the superior and descending portions of the helix. 2011-12-18T06:02:42Z UMLS:C4021179 Helix, Darwin tubercle human_phenotype HP:0011261 Darwin tubercle of helix HP:0011261 Small expansion of the helical fold at the junction of the superior and descending portions of the helix. PMID:19152421 Linear, circumferential indentation in the convexity of the outer surface of the helix. 2011-12-18T06:19:33Z UMLS:C4021178 Helix, crimped Indented helix human_phenotype HP:0011262 The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. Crimped helix HP:0011262 Linear, circumferential indentation in the convexity of the outer surface of the helix. PMID:19152421 Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. 2011-12-18T06:50:34Z UMLS:C4021177 Forward facing earlobe Lobe, forward facing human_phenotype HP:0011263 The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. Forward facing earlobe HP:0011263 Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear. PMID:19152421 https://orcid.org/0000-0002-0736-9199 Forward facing earlobe Lobe, forward facing Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. 2011-12-18T07:31:00Z UMLS:C4021176 Helix, discontinuous ascending root human_phenotype HP:0011264 Discontinuous ascending root of helix HP:0011264 Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid. PMID:19152421 Discontinuity in the convexity of the inferior margin of the lobe. 2011-12-18T07:39:52Z UMLS:C4023440 Bifid earlobe Bifid lobe Cleft earlobe Notched earlobe Notched lobe human_phenotype HP:0011265 The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. Cleft earlobe HP:0011265 Discontinuity in the convexity of the inferior margin of the lobe. PMID:19152421 Cleft earlobe Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. 2011-12-18T07:44:51Z HP:0000379 UMLS:C4021175 First-degree microtia human_phenotype HP:0011266 Microtia, first degree HP:0011266 Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. PMID:19152421 Presence of some auricular structures, but none of these structures conform to recognized ear components. 2011-12-18T07:49:49Z Abnormal shape/structure of ear UMLS:C4021174 UMLS:C4280331 Third-degree microtia human_phenotype HP:0011267 This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. Microtia, third degree HP:0011267 Presence of some auricular structures, but none of these structures conform to recognized ear components. PMID:19152421 Abnormal shape/structure of ear https://orcid.org/0000-0001-6908-9849 Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. 2011-12-18T07:55:39Z UMLS:C4023439 human_phenotype HP:0011268 This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. Absent tragus HP:0011268 Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. PMID:19152421 Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. 2011-12-18T07:56:56Z UMLS:C4021173 Notched tragus Tragus, bifid human_phenotype HP:0011269 Bifid tragus HP:0011269 Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak. PMID:19152421 Notched tragus A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. 2011-12-18T07:58:04Z UMLS:C4021172 Accessory tragus Tragus, duplicated human_phenotype HP:0011270 It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. Duplicated tragus HP:0011270 A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. PMID:19152421 Increase posterolateral protrusion of the tragus. 2011-12-18T07:59:22Z UMLS:C4021171 Enlarged tragus Hyperplastic tragus Hypertrophic tragus Large tragus Tragus, prominent human_phenotype HP:0011271 Prominent tragus HP:0011271 Increase posterolateral protrusion of the tragus. PMID:19152421 Enlarged tragus https://orcid.org/0000-0002-5316-1399 Hyperplastic tragus https://orcid.org/0000-0002-5316-1399 Hypertrophic tragus https://orcid.org/0000-0002-5316-1399 Large tragus https://orcid.org/0000-0002-5316-1399 Tragus, prominent https://orcid.org/0000-0002-5316-1399 Decreased posterolateral protrusion of the tragus. 2011-12-18T08:01:33Z UMLS:C4013429 Hypoplastic tragus Hypotrophic tragus Small tragus human_phenotype HP:0011272 Underdeveloped tragus HP:0011272 Decreased posterolateral protrusion of the tragus. PMID:19152421 Abnormally increased variability in the size of erythrocytes. 2011-12-28T11:58:24Z SNOMEDCT_US:165475005 SNOMEDCT_US:57241006 UMLS:C0221278 Unequal size of red blood cells human_phenotype HP:0011273 Anisocytosis HP:0011273 Abnormally increased variability in the size of erythrocytes. https://orcid.org/0000-0002-0736-9199 Unequal size of red blood cells https://en.wikipedia.org/wiki/anisocytosis https://orcid.org/0000-0001-5208-3432 Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. 2011-12-28T12:11:54Z UMLS:C4023438 human_phenotype HP:0011274 Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. Recurrent mycobacterial infections HP:0011274 Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. https://orcid.org/0000-0002-0736-9199 Increased susceptibility to mycobacterial avium complex infections as manifested by recurrent episodes of mycobacterial infection. 2011-12-28T12:16:46Z UMLS:C1737260 human_phenotype HP:0011275 Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. Recurrent mycobacterium avium complex infections HP:0011275 Increased susceptibility to mycobacterial avium complex infections as manifested by recurrent episodes of mycobacterial infection. https://orcid.org/0000-0002-0736-9199 2011-12-29T08:52:53Z SNOMEDCT_US:11263005 UMLS:C0162819 UMLS:C1842892 Skin vascular malformation human_phenotype Vascular abnormalities restricted to skin HP:0011276 Vascular skin abnormality HP:0011276 Vascular abnormalities restricted to skin https://orcid.org/0000-0002-5316-1399 2011-12-30T02:51:16Z UMLS:C4023437 human_phenotype HP:0011277 Abnormality of the urinary system physiology HP:0011277 A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. 2011-12-31T07:43:28Z HP:0010961 UMLS:C4023436 Intralobar sequestration Intrapulmonary sequestration human_phenotype HP:0011278 Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. Intrapulmonary lobar sequestration HP:0011278 A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree. PMID:20610189 https://orcid.org/0000-0002-0736-9199 An abnormal amount of hydrogencarbonate in the urine. 2011-12-30T02:57:55Z UMLS:C4023435 Abnormality of urine HCO3 concentration human_phenotype HP:0011279 Abnormality of urine bicarbonate level HP:0011279 An abnormal amount of hydrogencarbonate in the urine. https://orcid.org/0000-0002-0736-9199 Abnormality of urine HCO3 concentration An abnormality of calcium concentration in the urine. 2011-12-30T03:27:02Z UMLS:C4023434 Abnormality of urine Ca concentration Abnormality of urine Ca2+ concentration human_phenotype HP:0011280 Abnormality of urine calcium concentration HP:0011280 An abnormality of calcium concentration in the urine. https://orcid.org/0000-0002-0736-9199 Abnormality of urine Ca concentration https://orcid.org/0000-0001-7941-2961 Abnormality of urine Ca2+ concentration https://orcid.org/0000-0001-7941-2961 An abnormal amount of urinary catecholamine concentration. 2011-12-30T03:35:18Z MP:0011478 UMLS:C4023433 human_phenotype HP:0011281 Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. Abnormality of urine catecholamine level HP:0011281 An abnormal amount of urinary catecholamine concentration. https://orcid.org/0000-0002-0736-9199 An abnormality of the hindbrain, also known as the rhombencephalon. 2012-01-01T01:22:36Z UMLS:C4021170 Abnormal shape of hindbrain Abnormality of hindbrain morphology Abnormality of the hindbrain human_phenotype HP:0011282 The hindbrain consists of two main structures: The pons and the cerebellum. Abnormal hindbrain morphology HP:0011282 An abnormality of the hindbrain, also known as the rhombencephalon. https://orcid.org/0000-0002-0736-9199 Abnormal shape of hindbrain https://orcid.org/0000-0001-5208-3432 An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. 2012-01-01T01:24:14Z UMLS:C4023432 Abnormality of the metencephalon human_phenotype HP:0011283 Abnormal metencephalon morphology HP:0011283 An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. https://orcid.org/0000-0002-0736-9199 A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. 2012-01-01T02:59:57Z UMLS:C4023431 human_phenotype HP:0011284 Short-segment aganglionic megacolon HP:0011284 A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. PMID:17965226 https://orcid.org/0000-0002-0736-9199 A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. 2012-01-01T03:02:49Z UMLS:C4023430 human_phenotype HP:0011285 Long-segment aganglionic megacolon HP:0011285 A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. https://orcid.org/0000-0002-0736-9199 A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. 2012-01-01T03:03:46Z SNOMEDCT_US:253780003 SNOMEDCT_US:360441005 UMLS:C0085758 human_phenotype HP:0011286 Total colonic aganglionosis HP:0011286 A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon. https://orcid.org/0000-0002-0736-9199 EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2012-02-11T12:28:45Z UMLS:C4023429 human_phenotype HP:0011287 EEG with occipital sharp slow waves HP:0011287 EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2012-02-11T12:29:59Z UMLS:C4023428 human_phenotype HP:0011288 EEG with parietal sharp slow waves HP:0011288 EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2012-02-11T12:30:25Z UMLS:C4023427 human_phenotype HP:0011289 EEG with temporal sharp slow waves HP:0011289 EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2012-02-11T12:30:41Z UMLS:C4023426 human_phenotype HP:0011290 EEG with frontal sharp slow waves HP:0011290 EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. 2012-02-11T12:31:02Z UMLS:C4023425 human_phenotype HP:0011291 EEG with central sharp slow waves HP:0011291 EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. 2012-02-11T12:31:29Z UMLS:C2206521 human_phenotype HP:0011292 EEG with occipital sharp waves HP:0011292 EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. 2012-02-11T12:32:48Z UMLS:C2207327 human_phenotype HP:0011293 EEG with central sharp waves HP:0011293 EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. 2012-02-11T12:33:10Z UMLS:C2206518 human_phenotype HP:0011294 EEG with frontal sharp waves HP:0011294 EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. 2012-02-11T12:33:29Z UMLS:C2206520 human_phenotype HP:0011295 EEG with parietal sharp waves HP:0011295 EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. 2012-02-11T12:33:47Z UMLS:C2206519 human_phenotype HP:0011296 EEG with temporal sharp waves HP:0011296 EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec. HPO_CONTRIBUTOR:jalbers A morphological abnormality of a digit, i.e., of a finger or toe. 2012-02-11T07:16:22Z UMLS:C3550704 Abnormality of digit Abnormality of fingers or toes Digital anomalies human_phenotype HP:0011297 Abnormal digit morphology HP:0011297 A morphological abnormality of a digit, i.e., of a finger or toe. https://orcid.org/0000-0002-0736-9199 Abnormality of fingers or toes A soft tissue prominence of the ventral aspects of the fingertips or toe tips. 2012-02-11T07:18:29Z UMLS:C4023424 Prominent digit pad human_phenotype HP:0011298 The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. Prominent digit pad HP:0011298 A soft tissue prominence of the ventral aspects of the fingertips or toe tips. PMID:19125433 Prominent digit pad The absence of a phalangeal segment of a finger. 2012-02-11T10:57:07Z UMLS:C4023423 Partial absence of finger human_phenotype HP:0011299 The part that is absent may be specified. The distal modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The proximal modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. Partial absence of finger HP:0011299 The absence of a phalangeal segment of a finger. PMID:19125433 Partial absence of finger Increased width of the distal segment of a finger. 2012-02-11T11:18:08Z UMLS:C1968816 Broad fingertip Broad fingertips human_phenotype HP:0011300 This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. The distinction to the term Broad distal phalanx of finger is that this term is a clinical impression while Broad distal phalanx of finger refers to the objectively measured width of the distal phalane (bone), a radiological finding. Broad fingertip HP:0011300 Increased width of the distal segment of a finger. PMID:19125433 Broad fingertip Broad fingertips https://orcid.org/0000-0002-5316-1399 The total absence of the foot, with no bony elements distal to the tibia or fibula. 2012-02-11T11:20:59Z SNOMEDCT_US:371197005 UMLS:C0265624 Absent foot Aplasia of the foot Apodia human_phenotype HP:0011301 Absent foot HP:0011301 The total absence of the foot, with no bony elements distal to the tibia or fibula. PMID:19125433 Absent foot For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. 2012-02-12T10:20:56Z HP:0001502 UMLS:C4023422 Long palm human_phenotype HP:0011302 Long palm HP:0011302 For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. PMID:19125433 Long palm The contour of the foot in lateral profile has a convex shape. 2012-02-12T11:06:12Z UMLS:C4023421 human_phenotype HP:0011303 This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. Convex contour of sole HP:0011303 The contour of the foot in lateral profile has a convex shape. PMID:19125433 Increased thumb width without increased dorso-ventral dimension. 2012-02-12T11:15:31Z HP:0001173 HP:0001240 HP:0004073 HP:0009651 SNOMEDCT_US:249773003 UMLS:C0426891 Broad phalanges of the thumb Broad thumb Broad thumbs Wide/broad thumb Wide/broad thumb phalanges human_phenotype HP:0011304 Note that this term should not be used for thumbs that meet the definition for Macrodactyly. Broad thumb HP:0011304 Increased thumb width without increased dorso-ventral dimension. PMID:19125433 Broad thumb Broad thumbs Wide/broad thumb The absence of a phalangeal segment of a toe or hallux. 2012-02-12T12:20:32Z UMLS:C4021169 Hypophalangy of toes Partial absence of toe human_phenotype HP:0011305 The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. Partial absence of toe HP:0011305 The absence of a phalangeal segment of a toe or hallux. PMID:19125433 Partial absence of toe true HP:0011306 Divergence of digits along the anteroposterior axis (in the plane of the sole). 2012-02-12T12:38:36Z UMLS:C2117390 Splayed toes human_phenotype HP:0011307 Splayed toes HP:0011307 Divergence of digits along the anteroposterior axis (in the plane of the sole). PMID:19125433 Splayed toes Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. 2012-02-12T12:39:51Z HP:0200091 UMLS:C4021168 Narrow toe Slender toe human_phenotype HP:0011308 Slender toe HP:0011308 Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. PMID:19125433 Narrow toe Slender toe The gradual reduction in girth of the toe from proximal to distal. 2012-02-12T12:41:30Z HP:0008088 HP:0200089 UMLS:C4021167 Tapered toe Tapering toes human_phenotype HP:0011309 Tapered toe HP:0011309 The gradual reduction in girth of the toe from proximal to distal. PMID:19125433 Tapered toe Tapering toes A crease that connects the proximal and distal transverse palmar creases. 2012-02-12T12:56:40Z UMLS:C4021166 Bridged palm line Transitional palmar crease human_phenotype HP:0011310 The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. Bridged palmar crease HP:0011310 A crease that connects the proximal and distal transverse palmar creases. PMID:19125433 Bridged palm line https://orcid.org/0000-0001-5208-3432 Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. 2012-02-12T12:58:13Z UMLS:C4023420 human_phenotype HP:0011311 The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. Sydney crease HP:0011311 Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. PMID:19125433 A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. 2012-02-12T01:12:22Z UMLS:C4023419 Fused nails human_phenotype HP:0011312 The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. Fused nails HP:0011312 A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature. PMID:19125433 Fused nails Decreased width of nail. 2012-02-12T01:33:34Z HP:0200076 UMLS:C4021829 Narrow nail human_phenotype HP:0011313 Narrow nail HP:0011313 Decreased width of nail. PMID:19125433 Narrow nail An abnormality of size or shape of the long bones. 2012-02-12T02:31:03Z HP:0100713 HP:0100714 HP:0100715 UMLS:C4021165 Abnormal shape of long bone Abnormality of long bone morphology Abnormality of the tubular bones human_phenotype HP:0011314 Abnormal long bone morphology HP:0011314 An abnormality of size or shape of the long bones. https://orcid.org/0000-0002-0736-9199 Abnormal shape of long bone https://orcid.org/0000-0001-5208-3432 Synostosis affecting only one of the coronal sutures. 2012-02-25T01:08:28Z UMLS:C4020756 UMLS:C4023418 Unilateral coronal suture craniosynostosis Unilateral coronal suture synostosis human_phenotype Unilateral coronal craniosynostosis HP:0011315 Unicoronal synostosis HP:0011315 Synostosis affecting only one of the coronal sutures. https://orcid.org/0000-0002-2972-5481 Unilateral coronal suture craniosynostosis https://orcid.org/0000-0001-5889-4463 Unilateral coronal suture synostosis https://orcid.org/0000-0001-5889-4463 Synostosis affecting only the left coronal suture. 2012-02-25T01:10:32Z UMLS:C4023417 human_phenotype HP:0011316 Left unicoronal synostosis HP:0011316 Synostosis affecting only the left coronal suture. https://orcid.org/0000-0002-2972-5481 Unicoronal synostosis affecting only the right coronal suture. 2012-02-25T01:11:21Z UMLS:C4023416 human_phenotype HP:0011317 Right unicoronal synostosis HP:0011317 Unicoronal synostosis affecting only the right coronal suture. https://orcid.org/0000-0002-2972-5481 Synostosis affecting the right and the left coronal suture. 2012-02-25T01:11:41Z UMLS:C4021164 Bilateral coronal craniosynostosis Bilateral coronal suture craniosynostosis Bilateral coronal suture synostosis human_phenotype HP:0011318 Bicoronal synostosis HP:0011318 Synostosis affecting the right and the left coronal suture. https://orcid.org/0000-0002-2972-5481 Bilateral coronal craniosynostosis https://orcid.org/0000-0001-5889-4463 Bilateral coronal suture craniosynostosis https://orcid.org/0000-0001-5889-4463 Bilateral coronal suture synostosis https://orcid.org/0000-0001-5889-4463 Premature synostosis of both lambdoid sutures. 2012-02-25T01:12:22Z UMLS:C4021163 Bilateral lambdoid craniosynostosis Bilateral lambdoid suture synostosis human_phenotype HP:0011319 Bilambdoid synostosis HP:0011319 Premature synostosis of both lambdoid sutures. https://orcid.org/0000-0002-2972-5481 Bilateral lambdoid craniosynostosis https://orcid.org/0000-0001-5889-4463 Premature synostosis of only one lambdoid suture. 2012-02-25T01:13:20Z UMLS:C4021162 Unilateral lambdoid craniosynostosis Unilateral lambdoid suture synostosis human_phenotype HP:0011320 Unilambdoid synostosis HP:0011320 Premature synostosis of only one lambdoid suture. https://orcid.org/0000-0002-2972-5481 Unilateral lambdoid craniosynostosis https://orcid.org/0000-0001-5889-4463 Premature synostosis of only the left lambdoid suture. 2012-02-25T01:13:46Z UMLS:C4023415 human_phenotype HP:0011321 Left unilambdoid synostosis HP:0011321 Premature synostosis of only the left lambdoid suture. https://orcid.org/0000-0002-2972-5481 Premature synostosis of only the right lambdoid suture. 2012-02-25T01:14:34Z UMLS:C4023414 human_phenotype HP:0011322 Right unilambdoid synostosis HP:0011322 Premature synostosis of only the right lambdoid suture. https://orcid.org/0000-0002-2972-5481 Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. 2012-02-25T05:17:03Z UMLS:C1849227 Cleft of chin Midline defect of chin human_phenotype HP:0011323 Cleft of chin HP:0011323 Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. https://orcid.org/0000-0002-9602-2321 Cleft of chin Midline defect of chin https://orcid.org/0000-0001-5889-4463 Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. 2012-02-25T01:16:13Z UMLS:C4021161 Multisutural craniosynostosis human_phenotype HP:0011324 If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. Multiple suture craniosynostosis HP:0011324 Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. https://orcid.org/0000-0002-2972-5481 Craniosynostosis of all calvarial sutures. 2012-02-25T01:27:38Z UMLS:C4021827 Sysnostosis of all cranial sutures human_phenotype HP:0011325 Pansynostosis HP:0011325 Craniosynostosis of all calvarial sutures. https://orcid.org/0000-0002-2972-5481 Sysnostosis of all cranial sutures https://orcid.org/0000-0001-5889-4463 Asymmetry of the anterior part of the skull. 2012-02-25T02:10:41Z SNOMEDCT_US:254020001 UMLS:C0432124 UMLS:C4023413 UMLS:C4280328 UMLS:C4280329 UMLS:C4280330 Anterior flat head syndrome Deformational frontal plagiocephaly Frontal plagiocephaly Deformational anterior plagiocephaly Positional anterior plagiocephaly Positional frontal plagiocephaly human_phenotype Coronal synostosis Unicoronal craniosynostosis HP:0011326 Anterior plagiocephaly may have synostotic or non-synostotic causes. Anterior plagiocephaly HP:0011326 Asymmetry of the anterior part of the skull. https://orcid.org/0000-0002-2972-5481 Anterior flat head syndrome https://orcid.org/0000-0001-5889-4463 Deformational frontal plagiocephaly https://orcid.org/0000-0002-5316-1399 Frontal plagiocephaly https://orcid.org/0000-0001-5889-4463 Deformational anterior plagiocephaly https://orcid.org/0000-0001-5889-4463 Positional anterior plagiocephaly https://orcid.org/0000-0001-5889-4463 Positional frontal plagiocephaly https://orcid.org/0000-0001-5889-4463 Coronal synostosis https://orcid.org/0000-0001-5889-4463 Unicoronal craniosynostosis https://orcid.org/0000-0001-5889-4463 Asymmetry of the posterior part of the skull. 2012-02-25T02:11:33Z UMLS:C4021160 Deformational posterior plagiocephaly Occipital plagiocephaly human_phenotype HP:0011327 Anterior plagiocephaly may have synostotic or non-synostotic causes. Posterior plagiocephaly HP:0011327 Asymmetry of the posterior part of the skull. PMID:10876272 https://orcid.org/0000-0002-2972-5481 Deformational posterior plagiocephaly https://orcid.org/0000-0002-5316-1399 An abnormality of the fontanelle. 2012-02-25T02:34:36Z UMLS:C4020755 human_phenotype Anomaly of the fontanelles HP:0011328 The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. Abnormal fontanelle morphology HP:0011328 An abnormality of the fontanelle. PMID:12825844 https://orcid.org/0000-0002-0736-9199 Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. 2012-02-25T03:33:56Z UMLS:C4023412 Abnormality of cranial sutures Abnormality of the bregma sutures Abnormality of the calvarium sutures Abnormality of the cranial sutures Abnormality of the skull suture human_phenotype HP:0011329 Abnormality of cranial sutures HP:0011329 Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. https://orcid.org/0000-0002-0736-9199 Abnormality of cranial sutures Premature fusion of the metopic suture. 2012-02-25T03:52:01Z SNOMEDCT_US:109409003 UMLS:C0432122 UMLS:C1860819 Metopic craniosynostosis Metopic suture craniosynostosis human_phenotype HP:0011330 Metopic synostosis HP:0011330 Premature fusion of the metopic suture. https://orcid.org/0000-0002-2972-5481 Metopic craniosynostosis https://orcid.org/0000-0001-5889-4463 Unilateral atrophy of facial tissues, including muscles, bones and skin. 2012-02-25T05:04:56Z SNOMEDCT_US:718224004 SNOMEDCT_US:95834000 UMLS:C0015458 Atrophy of half of face Atrophy of one side of the face Facial hemiatrophy human_phenotype HP:0011331 Hemifacial atrophy HP:0011331 Unilateral atrophy of facial tissues, including muscles, bones and skin. https://orcid.org/0000-0002-2972-5481 Atrophy of half of face https://orcid.org/0000-0001-5889-4463 Atrophy of one side of the face https://orcid.org/0000-0001-5889-4463 Facial hemiatrophy https://orcid.org/0000-0001-5889-4463 Unilateral underdevelopment of the facial tissues, including muscles and bones. 2012-02-25T05:05:45Z SNOMEDCT_US:254025006 UMLS:C3495417 UMLS:C4023411 Decrease in size of half of face Decrease in size of one side of the face Decreased size of half of the face Decreased size of one side of the face Shrinking of half of face Shrinking of one side of the face human_phenotype Hemifacial microsomia HP:0011332 Hemifacial hypoplasia HP:0011332 Unilateral underdevelopment of the facial tissues, including muscles and bones. https://orcid.org/0000-0002-2972-5481 Decreased size of half of the face https://orcid.org/0000-0001-5889-4463 Decreased size of one side of the face https://orcid.org/0000-0001-5889-4463 Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. 2012-02-25T05:07:01Z SNOMEDCT_US:51409009 UMLS:C0431406 UMLS:C4280327 Asymmetric crying face Partial unilateral facial paresis human_phenotype Hypoplasia of depressor angula oris muscle HP:0011333 Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. Asymmetric crying face HP:0011333 Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. https://orcid.org/0000-0003-2958-5076 Asymmetric crying face Partial unilateral facial paresis https://orcid.org/0000-0001-5889-4463 Hypoplasia of depressor angula oris muscle https://orcid.org/0000-0001-5889-4463 2012-02-25T05:10:19Z UMLS:C4021159 Facial shape compression Facial shape deformation Distortion of facial shape human_phenotype HP:0011334 Facial shape deformation HP:0011334 Facial shape deformation Distortion of facial shape https://orcid.org/0000-0001-5889-4463 Excessive amount of hair growth on forehead. 2012-02-25T05:21:59Z UMLS:C1839830 Hairy forehead Hirsute forehead human_phenotype HP:0011335 Frontal hirsutism HP:0011335 Excessive amount of hair growth on forehead. https://orcid.org/0000-0002-9602-2321 Hairy forehead Bilateral temporal scarlike defects, which are said to resemble forceps marks. 2012-02-25T05:25:36Z UMLS:C4020754 UMLS:C4023409 Bitemporal aplasia cutis congenita Congenital ectodermal dysplasia of the face Congenital, bilateral, scarlike facial lesions human_phenotype Focal facial dermal dysplasia Temporal skin defect HP:0011336 Congenital, bilateral, scarlike facial lesions have been reported under several titles, such as hereditary symmetric systemic aplastic nevi, congenital ectodermal dysplasia of the face, familial focal facial dermal dysplasia, bitemporal aplasia cutis congenita, and focal facial dermal dysplasia (FFDD). The findings are congenital, bilateral scarlike facial lesions in the preauricular or cheek areas. The lesions may present as slightly depressed hypopigmented scarlike oval plaques measuring about 1 cm and may have a surrounding rim of fine lanugo-like hair. Skin biopsy can reveal an atrophic epidermis with a thinned dermis devoid of adnexal structures. Elastic fibers are absent in the affected areas, as can be shown by Verhoeff-van Giesen staining. Bitemporal forceps marks HP:0011336 Bilateral temporal scarlike defects, which are said to resemble forceps marks. PMID:1401310 https://orcid.org/0000-0002-9602-2321 2012-02-26T11:00:17Z UMLS:C4023408 Abnormality of mouth size Anomaly of mouth size human_phenotype HP:0011337 Abnormality of mouth size HP:0011337 Abnormality of mouth size Anomaly of mouth size https://orcid.org/0000-0001-5889-4463 An abnormality of the outline, configuration, or contour of the mouth. 2012-02-26T01:05:23Z Fyler:4874 UMLS:C4023407 Abnormality of mouth shape Anomaly of mouth shape Unusual mouth shape human_phenotype HP:0011338 Abnormality of mouth shape HP:0011338 An abnormality of the outline, configuration, or contour of the mouth. HPO_CONTRIBUTOR:DDD_jhurst Abnormality of mouth shape Anomaly of mouth shape https://orcid.org/0000-0001-5889-4463 Unusual mouth shape https://orcid.org/0000-0001-5889-4463 An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. 2012-02-26T01:32:28Z UMLS:C4023406 Abnormality of the red part of the upper lip Anomaly of the upper lip vermillion Deformity of the upper lip vermillion Malformation of the upper lip vermillion human_phenotype HP:0011339 Abnormality of upper lip vermillion HP:0011339 An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. https://orcid.org/0000-0002-0736-9199 Abnormality of the red part of the upper lip https://orcid.org/0000-0001-5889-4463 Anomaly of the upper lip vermillion https://orcid.org/0000-0001-5889-4463 Deformity of the upper lip vermillion https://orcid.org/0000-0001-5889-4463 Malformation of the upper lip vermillion https://orcid.org/0000-0001-5889-4463 Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity. 2012-02-26T01:55:36Z UMLS:C4021158 Forme fruste unilateral cleft lip Incomplete cheiloschisis Incomplete cleft of the upper lip Notched cleft of the upper lip Partial cleft of the upper lip human_phenotype HP:0011340 If the cleft lip is on only one side, use 'Incomplete unilateral cleft lip' (HP:5201000). This term was created to be used in association with a left (HP:0012835) or right (HP:0012834) modifier to annotate completeness of a cleft lip. Incomplete cleft of the upper lip HP:0011340 Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity. https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-9602-2321 Incomplete cheiloschisis https://orcid.org/0000-0001-5889-4463 Incomplete cleft of the upper lip Notched cleft of the upper lip https://orcid.org/0000-0001-5889-4463 Partial cleft of the upper lip https://orcid.org/0000-0001-5889-4463 Increased width of the upper lip. 2012-02-26T01:58:08Z UMLS:C3151495 Elongation of upper lip Increased height of upper lip Increased vertical length of upper lip Long upper lip human_phenotype HP:0011341 Long upper lip HP:0011341 Increased width of the upper lip. HPO_CONTRIBUTOR:DDD_jhurst Elongation of upper lip https://orcid.org/0000-0001-5889-4463 Increased height of upper lip https://orcid.org/0000-0001-5889-4463 Increased vertical length of upper lip https://orcid.org/0000-0001-5889-4463 Long upper lip A mild delay in the achievement of motor or mental milestones in the domains of development of a child. 2012-02-29T11:19:49Z UMLS:C2229182 UMLS:C4012968 Global developmental delay, mild human_phenotype Psychomotor retardation, mild HP:0011342 Mild global developmental delay HP:0011342 A mild delay in the achievement of motor or mental milestones in the domains of development of a child. https://orcid.org/0000-0002-6410-0882 Psychomotor retardation, mild https://orcid.org/0000-0001-5208-3432 A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. 2012-02-29T11:20:28Z UMLS:C2237142 Global developmental delay, moderate human_phenotype Psychomotor retardation, moderate HP:0011343 Moderate global developmental delay HP:0011343 A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. https://orcid.org/0000-0002-6410-0882 Psychomotor retardation, moderate https://orcid.org/0000-0002-5316-1399 A severe delay in the achievement of motor or mental milestones in the domains of development of a child. 2012-02-29T11:20:45Z UMLS:C1837397 UMLS:C1854919 Global developmental delay, severe human_phenotype Severe psychomotor retardation HP:0011344 Severe global developmental delay HP:0011344 A severe delay in the achievement of motor or mental milestones in the domains of development of a child. https://orcid.org/0000-0002-6410-0882 Severe psychomotor retardation https://orcid.org/0000-0002-5316-1399 A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. 2012-03-01T08:45:49Z SNOMEDCT_US:62211000119103 UMLS:C3532933 human_phenotype HP:0011345 Moderate expressive language delay HP:0011345 A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. https://orcid.org/0000-0002-6410-0882 A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. 2012-03-01T08:46:23Z SNOMEDCT_US:62231000119108 UMLS:C3532934 human_phenotype HP:0011346 Mild expressive language delay HP:0011346 A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. https://orcid.org/0000-0002-6410-0882 An abnormality involving the movement of the eye outwards. 2012-03-01T10:18:05Z UMLS:C4023405 human_phenotype HP:0011347 Abnormality of ocular abduction HP:0011347 An abnormality involving the movement of the eye outwards. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the abducens nerve. 2012-03-01T10:20:44Z UMLS:C4023404 Abnormal abducens nerve morphology Abnormality of the sixth cranial nerve human_phenotype HP:0011348 The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). Abnormal sixth cranial nerve morphology HP:0011348 Any structural abnormality of the abducens nerve. https://orcid.org/0000-0002-0736-9199 HP:0006897 2012-03-01T10:30:20Z human_phenotype HP:0011349 obsolete Abducens palsy true HP:0011349 A mild delay in the acquisition of the ability to understand the speech of others. 2012-03-01T10:52:40Z SNOMEDCT_US:89501000119108 UMLS:C3532948 human_phenotype HP:0011350 Mild receptive language delay HP:0011350 A mild delay in the acquisition of the ability to understand the speech of others. https://orcid.org/0000-0002-6410-0882 A moderate delay in the acquisition of the ability to understand the speech of others. 2012-03-01T10:53:13Z SNOMEDCT_US:89381000119107 UMLS:C3532946 human_phenotype HP:0011351 Moderate receptive language delay HP:0011351 A moderate delay in the acquisition of the ability to understand the speech of others. https://orcid.org/0000-0002-6410-0882 A severe delay in the acquisition of the ability to understand the speech of others. 2012-03-01T10:53:30Z SNOMEDCT_US:89391000119105 UMLS:C3532947 human_phenotype HP:0011352 Severe receptive language delay HP:0011352 A severe delay in the acquisition of the ability to understand the speech of others. https://orcid.org/0000-0002-6410-0882 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. 2012-03-01T01:05:59Z UMLS:C4020753 UMLS:C4023403 human_phenotype Intimal fibrosis HP:0011353 Arterial intimal fibrosis HP:0011353 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. https://orcid.org/0000-0002-0736-9199 An abnormality of the skin that is not localized to any one particular region. 2012-03-01T01:55:07Z UMLS:C4021157 Generalised abnormality of skin Generalized abnormality of skin human_phenotype HP:0011354 Generalized abnormality of skin HP:0011354 An abnormality of the skin that is not localized to any one particular region. https://orcid.org/0000-0003-1773-4011 Generalised abnormality of skin Generalized abnormality of skin A lesion of the skin that is located in a specific region rather than being generalized. 2012-03-01T02:37:43Z UMLS:C0850826 Localised skin lesion Localized skin lesion human_phenotype HP:0011355 Localized skin lesion HP:0011355 A lesion of the skin that is located in a specific region rather than being generalized. https://orcid.org/0000-0003-1773-4011 Localised skin lesion Localized skin lesion An abnormality of the skin that is restricted to a particular body region. 2012-03-01T02:39:14Z UMLS:C4023402 human_phenotype HP:0011356 Regional abnormality of skin HP:0011356 An abnormality of the skin that is restricted to a particular body region. https://orcid.org/0000-0003-1773-4011 HP:0011362 2012-03-01T02:51:40Z human_phenotype HP:0011357 obsolete Abnormality of hair density true HP:0011357 Reduced pigmentation of hair diffusely. 2012-03-01T03:32:59Z UMLS:C4023400 Generalised hypopigmentation of hair human_phenotype HP:0011358 Generalized hypopigmentation of hair HP:0011358 Reduced pigmentation of hair diffusely. https://orcid.org/0000-0003-1773-4011 Generalised hypopigmentation of hair Hair that lacks the luster (shine or gleam) of normal hair. 2012-03-01T04:24:09Z HP:0200077 HP:0200079 HP:0200080 SNOMEDCT_US:79395009 UMLS:C0277960 Dry hair human_phenotype HP:0011359 Dry hair HP:0011359 Hair that lacks the luster (shine or gleam) of normal hair. https://orcid.org/0000-0003-1773-4011 Dry hair An abnormality of the distribution of hair growth that is acquired during the course of life. 2012-03-01T08:36:23Z UMLS:C4023399 Acquired abnormal hair pattern human_phenotype HP:0011360 Acquired abnormal hair pattern HP:0011360 An abnormality of the distribution of hair growth that is acquired during the course of life. https://orcid.org/0000-0003-1773-4011 Acquired abnormal hair pattern A congenital abnormality of the distribution of hair growth. 2012-03-01T08:39:51Z UMLS:C4023398 Abnormal hair pattern since birth human_phenotype HP:0011361 Congenital abnormal hair pattern HP:0011361 A congenital abnormality of the distribution of hair growth. https://orcid.org/0000-0003-1773-4011 Abnormal hair pattern since birth https://orcid.org/0000-0001-5889-4463 An abnormal amount of hair. 2012-03-01T08:46:57Z HP:0002115 HP:0011357 UMLS:C4023397 UMLS:C4023401 Abnormal hair quantity Abnormality of hair density human_phenotype HP:0011362 Abnormal hair quantity HP:0011362 An abnormal amount of hair. https://orcid.org/0000-0003-1773-4011 Abnormal hair quantity Hair whose growth rate deviates from the norm. 2012-03-01T09:46:36Z UMLS:C4023396 Abnormality of hair growth rate Abnormality of pace of hair growth Abnormality of speed of hair growth human_phenotype HP:0011363 Hair growth rate is normally about 1.25 centimeters per month. Abnormality of hair growth rate HP:0011363 Hair whose growth rate deviates from the norm. https://orcid.org/0000-0003-1773-4011 Abnormality of hair growth rate Abnormality of pace of hair growth https://orcid.org/0000-0001-5889-4463 Abnormality of speed of hair growth https://orcid.org/0000-0001-5889-4463 Hypopigmented hair that appears white. 2012-03-01T09:50:48Z SNOMEDCT_US:297993006 UMLS:C0239804 White hair human_phenotype HP:0011364 White hair HP:0011364 Hypopigmented hair that appears white. https://orcid.org/0000-0003-1773-4011 White hair Reduced pigmentation of hair in patches. 2012-03-01T09:52:58Z UMLS:C4023395 human_phenotype HP:0011365 Patchy hypopigmentation of hair HP:0011365 Reduced pigmentation of hair in patches. https://orcid.org/0000-0003-1773-4011 true HP:0011366 Yellowish discoloration of the nails. 2012-03-03T12:08:12Z SNOMEDCT_US:45342007 UMLS:C1768507 Yellow nails human_phenotype HP:0011367 Yellow nails HP:0011367 Yellowish discoloration of the nails. https://orcid.org/0000-0003-1773-4011 Yellow nails Thickening of the epidermal layer of the skin. 2012-03-03T12:25:18Z HP:0001035 UMLS:C0494876 UMLS:C4020752 human_phenotype Abnormality of keratinization HP:0011368 Epidermal thickening HP:0011368 Thickening of the epidermal layer of the skin. https://orcid.org/0000-0002-0736-9199 Congenital deep dermal melanosis in the sacral area. 2012-03-03T03:34:48Z SNOMEDCT_US:40467008 UMLS:C0265985 human_phenotype HP:0011369 Mongolian blue spot HP:0011369 Congenital deep dermal melanosis in the sacral area. https://orcid.org/0000-0003-1773-4011 Increased susceptibility to cutaneous fungal infections as manifested by recurrent episodes of cutaneous fungal infections. 2012-03-03T10:34:52Z UMLS:C4023394 human_phenotype HP:0011370 Recurrent cutaneous fungal infections HP:0011370 Increased susceptibility to viral skin infections as manifested by recurrent episodes of viral skin infections. 2012-03-03T10:36:20Z UMLS:C4023393 Recurrent viral skin infections human_phenotype HP:0011371 Recurrent viral skin infections HP:0011371 Recurrent viral skin infections Absence of the inner ear due to a developmental defect. 2012-03-07T08:23:52Z SNOMEDCT_US:71973003 UMLS:C0266604 Absent inner ear Aplasia of the labyrinth Labyrinthine aplasia Michel deformity human_phenotype HP:0011372 Aplasia of the inner ear is usually diagnosed on MR or CT imaging. Aplasia of the inner ear HP:0011372 Absence of the inner ear due to a developmental defect. HPO_CONTRIBUTOR:DDD_dfitzpatrick Absent inner ear https://orcid.org/0000-0001-5208-3432 Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. 2012-03-07T08:24:55Z UMLS:C4023392 human_phenotype HP:0011373 Incomplete partition of the cochlea HP:0011373 Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema. https://orcid.org/0000-0002-0736-9199 Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. 2012-03-07T08:26:25Z UMLS:C4023391 human_phenotype HP:0011374 Incomplete partition of the cochlea type I HP:0011374 Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. HPO_CONTRIBUTOR:DDD_mbitner-glidicz PMID:21849370 Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. 2012-03-07T08:31:27Z UMLS:C4023390 Absent cochlea human_phenotype HP:0011375 Cochlear aplasia HP:0011375 Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. HPO_CONTRIBUTOR:dfitzpatrick Absent cochlea https://orcid.org/0000-0001-5208-3432 A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. 2012-03-07T08:35:08Z UMLS:C0542259 Morphological abnormality of the vestibule of the inner ear Vestibular abnormality human_phenotype HP:0011376 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. Abnormal morphology of the vestibule of the inner ear HP:0011376 A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Complete absence of the vestibule of the inner ear. 2012-03-07T08:37:27Z UMLS:C4023389 Absent vestibule human_phenotype HP:0011377 Aplasia of the vestibule HP:0011377 Complete absence of the vestibule of the inner ear. HPO_CONTRIBUTOR:DDD_dfitzpatrick Absent vestibule https://orcid.org/0000-0001-5208-3432 Underdevelopment of the vestibule of the inner ear. 2012-03-09T07:06:20Z UMLS:C4023388 human_phenotype HP:0011378 Hypoplasia of the vestibule of the inner ear HP:0011378 Underdevelopment of the vestibule of the inner ear. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Dilatation of the vestibule of the inner ear. 2012-03-09T07:07:38Z UMLS:C4023387 human_phenotype HP:0011379 Dilated vestibule of the inner ear HP:0011379 Dilatation of the vestibule of the inner ear. HPO_CONTRIBUTOR:DDD_mbitner-glidicz An abnormality of the morphology of the semicircular canal. 2012-03-09T07:12:21Z UMLS:C4023386 Morphological abnormality of the semicircular canal human_phenotype HP:0011380 Abnormal semicircular canal morphology HP:0011380 An abnormality of the morphology of the semicircular canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick Absence of the semicircular canal. 2012-03-09T07:14:57Z UMLS:C4023385 Absent semicircular canal human_phenotype HP:0011381 Aplasia of the semicircular canal HP:0011381 Absence of the semicircular canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick Absent semicircular canal https://orcid.org/0000-0001-5208-3432 Underdevelopment of the semicircular canal. 2012-03-09T07:15:47Z UMLS:C3552156 Small semicircular canal human_phenotype Hypoplasia of the semicircular canals HP:0011382 Hypoplasia of the semicircular canal HP:0011382 Underdevelopment of the semicircular canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick Small semicircular canal https://orcid.org/0000-0001-5208-3432 Hypoplasia of the semicircular canals https://orcid.org/0000-0002-5316-1399 Increased size of the semicircular canal. 2012-03-09T07:16:58Z UMLS:C4021156 Dilated semicircular canal human_phenotype HP:0011383 Enlarged semicircular canal HP:0011383 Increased size of the semicircular canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. 2012-03-09T07:26:47Z UMLS:C4021155 Abnormality of the internal acoustic meatus human_phenotype HP:0011384 Abnormality of the internal auditory canal HP:0011384 An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Aplasia of the internal auditory canal. 2012-03-09T07:33:46Z UMLS:C4023384 human_phenotype HP:0011385 Absent internal auditory canal HP:0011385 Aplasia of the internal auditory canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick Reduction in diameter of the internal auditory canal. 2012-03-09T07:35:00Z UMLS:C4023383 human_phenotype HP:0011386 Narrow internal auditory canal HP:0011386 Reduction in diameter of the internal auditory canal. HPO_CONTRIBUTOR:DDD_dfitzpatrick Increased size of the vestibular aqueduct. 2012-03-09T07:38:34Z UMLS:C1863752 Dilated vestibular aqueduct Widened vestibular aqueduct human_phenotype HP:0011387 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. Enlarged vestibular aqueduct HP:0011387 Increased size of the vestibular aqueduct. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. 2012-03-09T07:41:47Z UMLS:C4021154 Dilated cochlear aqueduct human_phenotype HP:0011388 The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. Enlarged cochlear aqueduct HP:0011388 Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. HPO_CONTRIBUTOR:DDD_dfitzpatrick An abnormality of the function of the inner ear. 2012-03-09T04:58:30Z UMLS:C4023382 Functional abnormality of the inner ear human_phenotype HP:0011389 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. Functional abnormality of the inner ear HP:0011389 An abnormality of the function of the inner ear. HPO_CONTRIBUTOR:DDD_dfitzpatrick Functional abnormality of the inner ear A structural anomaly of the internal part of the ear. 2012-03-09T04:59:24Z UMLS:C4023381 Morphological abnormality of the inner ear human_phenotype HP:0011390 The inner ear contains the cochlea and the semicircular canals. Abnormal inner ear morphology HP:0011390 A structural anomaly of the internal part of the ear. https://orcid.org/0000-0002-0736-9199 2012-03-09T05:03:30Z UMLS:C4023380 Morphological abnormality of the nerves of the inner ear human_phenotype HP:0011391 Abnormal inner ear nerve morphology HP:0011391 2012-03-09T05:03:47Z UMLS:C4023379 human_phenotype HP:0011392 Abnormality of the vestibular nerve HP:0011392 Absence of the vestibular nerve 2012-03-09T05:08:14Z UMLS:C4020751 UMLS:C4021153 Absent cranial nerve viii Absent the eighth cranial nerve Absent vestribular nerve Aplasia of the eighth cranial nerve human_phenotype Aplasia of cranial nerve VIII HP:0011393 May be seen in CHARGE syndrome. Aplasia of the vestibular nerve HP:0011393 Absence of the vestibular nerve HPO_CONTRIBUTOR:DDD_mbitner-glidicz Absent cranial nerve viii https://orcid.org/0000-0001-5208-3432 Absent the eighth cranial nerve https://orcid.org/0000-0001-5208-3432 Absent vestribular nerve https://orcid.org/0000-0001-5208-3432 Underdevelopment of the vestibular nerve. 2012-03-09T05:14:35Z UMLS:C4020750 Hypoplasia of the eighth cranial nerve Thin vestibular nerve human_phenotype Hypoplasia of cranial nerve VIII HP:0011394 Hypoplasia of the vestibular nerve HP:0011394 Underdevelopment of the vestibular nerve. HPO_CONTRIBUTOR:DDD_dfitzpatrick Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. 2012-03-09T05:37:50Z UMLS:C4023378 Absent/small cochlea Absent/underdeveloped cochlea human_phenotype HP:0011395 Aplasia/Hypoplasia of the cochlea HP:0011395 Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. https://orcid.org/0000-0002-0736-9199 Absent/small cochlea https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped cochlea https://orcid.org/0000-0001-5208-3432 Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe. 2012-03-09T05:39:04Z UMLS:C4023377 human_phenotype HP:0011396 Abnormality of the cochlear nerve HP:0011396 Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe. PMID:30726044 An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. 2012-03-12T07:39:12Z UMLS:C4023376 Abnormality of the dorsal column of the spinal cord human_phenotype HP:0011397 The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. Abnormal spinal cord dorsal column morphology HP:0011397 An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. https://orcid.org/0000-0002-0736-9199 HP:0001252 2012-03-12T04:39:51Z human_phenotype HP:0011398 obsolete Central hypotonia true HP:0011398 Wasting of the tibialis anterior muscle. 2012-03-12T06:15:40Z UMLS:C4023375 Sharp shin sign Tibialis anterior amyotrophy Tibialis muscle degeneration human_phenotype HP:0011399 The tibialis anterior muscle is located in the front of the lower leg. The shin may appear prominent because of atrophy of the tibialis anterior muscle (sharp shin sign). Tibialis anterior muscle atrophy HP:0011399 Wasting of the tibialis anterior muscle. https://orcid.org/0000-0002-0736-9199 Tibialis muscle degeneration https://orcid.org/0000-0001-5208-3432 An abnormality of myelination of nerves in the central nervous system. 2012-03-12T07:24:42Z HP:0002520 HP:0004335 UMLS:C4021152 Abnormal formation of myelin sheaths human_phenotype HP:0011400 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. Abnormal CNS myelination HP:0011400 An abnormality of myelination of nerves in the central nervous system. https://orcid.org/0000-0002-9102-5232 Delayed myelination in the peripheral nervous system. 2012-03-12T08:08:41Z UMLS:C4023374 human_phenotype HP:0011401 Delayed peripheral myelination HP:0011401 Delayed myelination in the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 Demyelination of peripheral sensory nerves. 2012-03-12T08:28:12Z UMLS:C4023373 human_phenotype HP:0011402 Demyelinating sensory neuropathy HP:0011402 Demyelination of peripheral sensory nerves. https://orcid.org/0000-0002-0736-9199 2012-03-15T11:05:13Z UMLS:C4023372 Abnormal umbilical cord blood vessels human_phenotype HP:0011403 Abnormal umbilical cord blood vessel morphology HP:0011403 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. 2012-03-15T09:38:44Z UMLS:C4021151 Lethal short-trunk dwarfism human_phenotype HP:0011404 Lethal short-trunk short stature HP:0011404 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth. https://orcid.org/0000-0002-0736-9199 2012-03-15T09:44:56Z HP:0003523 UMLS:C1867487 Short-limb dwarfism identifiable during childhood human_phenotype HP:0011405 Childhood onset short-limb short stature HP:0011405 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. 2012-03-15T09:45:48Z HP:0008851 UMLS:C1846061 Short-trunk dwarfism, identifiable in infancy human_phenotype HP:0011406 Infancy onset short-trunk short stature HP:0011406 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. https://orcid.org/0000-0002-0736-9199 2012-03-15T09:47:20Z UMLS:C4023371 human_phenotype HP:0011407 Proportionate tall stature HP:0011407 Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. 2012-03-15T09:52:50Z UMLS:C4023370 human_phenotype HP:0011408 Moderate intrauterine growth retardation HP:0011408 Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age. https://orcid.org/0000-0002-6410-0882 Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. 2012-03-15T11:07:01Z UMLS:C4023369 Abnormality of placental membranes human_phenotype HP:0011409 Abnormal placental membrane morphology HP:0011409 Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. PMID:28939208 Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). 2012-03-15T09:58:01Z SNOMEDCT_US:200144004 UMLS:C1384674 Caesarean section human_phenotype HP:0011410 Caesarean section HP:0011410 Caesarean section 2012-03-15T09:58:47Z UMLS:C0341808 Forceps delivery human_phenotype HP:0011411 Forceps delivery HP:0011411 Forceps delivery Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. 2012-03-15T09:59:31Z SNOMEDCT_US:10761101000119105 SNOMEDCT_US:61586001 UMLS:C0042225 UMLS:C1456852 UMLS:C2825567 Vacuum extraction Vacuum-assisted vaginal delivery human_phenotype HP:0011412 Ventouse delivery HP:0011412 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately. https://orcid.org/0000-0002-6410-0882 Vacuum extraction https://orcid.org/0000-0001-5208-3432 Vacuum-assisted vaginal delivery https://orcid.org/0000-0001-5208-3432 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. 2012-03-15T10:01:02Z SNOMEDCT_US:89700002 UMLS:C0269825 human_phenotype HP:0011413 Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. Shoulder dystocia HP:0011413 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. PMID:15086043 An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. 2012-03-15T10:07:47Z SNOMEDCT_US:75094005 UMLS:C0270254 Hydrops of the placenta human_phenotype HP:0011414 Hydropic placenta HP:0011414 An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. https://orcid.org/0000-0002-6410-0882 2012-03-15T10:10:35Z SNOMEDCT_US:249174002 UMLS:C0426234 Placental calcification human_phenotype HP:0011415 Calcified placenta HP:0011415 2012-03-15T10:11:39Z SNOMEDCT_US:268585006 UMLS:C0554393 Placental thromboembolism human_phenotype HP:0011416 Placental infarction HP:0011416 Increased length of the umbilical cord. 2012-03-15T10:12:55Z SNOMEDCT_US:237261008 UMLS:C0405028 Long umbilical cord human_phenotype HP:0011417 Long umbilical cord HP:0011417 Increased length of the umbilical cord. https://orcid.org/0000-0002-6410-0882 Long umbilical cord Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta. 2012-03-15T10:15:01Z SNOMEDCT_US:79668009 UMLS:C0269852 human_phenotype HP:0011418 Abnormal insertion of umbilical cord HP:0011418 Separation of the placenta from the uterus wall before delivery. 2012-03-15T11:08:18Z SNOMEDCT_US:405736009 SNOMEDCT_US:415105001 UMLS:C0000832 Abruptio placentae human_phenotype HP:0011419 Placental abruption HP:0011419 Separation of the placenta from the uterus wall before delivery. https://orcid.org/0000-0002-6410-0882 The age group when the cessation of life happens. UMLS:C1546180 human_phenotype HP:0011420 Age of death HP:0011420 The age group when the cessation of life happens. https://orcid.org/0000-0002-0736-9199 Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). 2012-03-16T06:38:44Z UMLS:C4023368 Death in adolescence human_phenotype HP:0011421 Death in adolescence HP:0011421 Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). https://orcid.org/0000-0002-0736-9199 Death in adolescence Any deviation from the normal concentration of chloride in the blood circulation. 2012-03-16T06:09:15Z UMLS:C4023367 Abnormal blood Cl concentration Abnormal blood Cl- concentration Abnormal blood chloride concentration Abnormal chloride level Abnormality of chloride homeostasis human_phenotype HP:0011422 Abnormal circulating chloride concentration HP:0011422 Abnormal blood Cl concentration https://orcid.org/0000-0001-7941-2961 Abnormal blood Cl- concentration https://orcid.org/0000-0001-7941-2961 The concentration of chloride in the blood circulation is above the upper limit of normal. 2012-03-16T06:09:40Z SNOMEDCT_US:74450001 UMLS:C0085679 Elevated chloride concentration Elevated chloride level Elevated chloride level in blood Hyperchloremia Increased chloride concentration Increased chloride level Increased chloride level in blood human_phenotype HP:0011423 Hyperchloremia HP:0011423 An increased concentration of zinc in the blood. 2012-03-17T08:54:44Z UMLS:C0854520 UMLS:C0856208 Hyperzincemia human_phenotype HP:0011424 Increased serum zinc HP:0011424 An increased concentration of zinc in the blood. https://orcid.org/0000-0002-0736-9199 An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. 2012-03-17T04:26:01Z UMLS:C4023366 Foetal ultrasound soft marker human_phenotype HP:0011425 The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637). Fetal ultrasound soft marker HP:0011425 An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders. PMID:16100637 Foetal ultrasound soft marker Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). 2012-03-17T06:59:50Z SNOMEDCT_US:462165005 UMLS:C3532166 Foetal choroid plexus cysts human_phenotype HP:0011426 There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk. Fetal choroid plexus cysts HP:0011426 Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637). PMID:16100637 PMID:16809660 https://orcid.org/0000-0002-6410-0882 Foetal choroid plexus cysts The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). 2012-03-17T07:03:07Z UMLS:C4023365 Enlarged foetal cisterna magna human_phenotype HP:0011427 Enlarged fetal cisterna magna HP:0011427 The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-6410-0882 Enlarged foetal cisterna magna A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). 2012-03-17T07:05:40Z UMLS:C0743924 Short fetal thigh bone length Short foetal femur length Short foetal thigh bone length human_phenotype HP:0011428 Short fetal femur length HP:0011428 A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-0736-9199 Short fetal thigh bone length https://orcid.org/0000-0001-5208-3432 Short foetal femur length Short foetal thigh bone length A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). 2012-03-17T07:07:05Z UMLS:C4023364 Short fetal long bone in upper arm length Short foetal humerus length Short foetal long bone in upper arm length human_phenotype HP:0011429 Short fetal humerus length HP:0011429 A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-0736-9199 Short fetal long bone in upper arm length https://orcid.org/0000-0001-5208-3432 Short foetal humerus length Short foetal long bone in upper arm length On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). 2012-03-17T07:08:30Z UMLS:C4023363 Hypoplasia of foetal nasal bone Underdeveloped fetal nose bone Underdeveloped foetal nose bone human_phenotype HP:0011430 Hypoplasia of fetal nasal bone HP:0011430 On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-0736-9199 Hypoplasia of foetal nasal bone Underdeveloped fetal nose bone https://orcid.org/0000-0001-5208-3432 Underdeveloped foetal nose bone Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). 2012-03-17T07:11:26Z Fetal little finger curvature Fetal pinkie finger curvature Fetal pinky finger curvature Foetal little finger curvature Foetal pinkie finger curvature Foetal pinky finger curvature UMLS:C4023362 UMLS:C4280326 Foetal fifth finger clinodactyly human_phenotype HP:0011431 Fetal fifth finger clinodactyly HP:0011431 Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637). PMID:16100637 https://orcid.org/0000-0002-0736-9199 Fetal little finger curvature https://orcid.org/0000-0001-5208-3432 Fetal pinkie finger curvature https://orcid.org/0000-0001-5208-3432 Fetal pinky finger curvature https://orcid.org/0000-0001-5208-3432 Foetal little finger curvature Foetal pinkie finger curvature Foetal pinky finger curvature Foetal fifth finger clinodactyly Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. 2012-03-17T07:45:07Z HP:0005984 UMLS:C4023361 Elevated maternal serum alpha-fetoprotein High MSAFP MoM High maternal circulating alpha-fetoprotein concentration High maternal serum alpha-fetoprotein High maternal serum alpha-fetoprotein MoM Increased maternal serum alpha-fetoprotein level MSAFP MoM>2.5 human_phenotype HP:0011432 Increased levels of maternal serum alpha-fetoprotein is often part of the triple (AFP, Estriol, and human chorionic gonadotropin) or quadruple screening tests (AFP, estriol, human chorionic gonadotropin and Inhibin A) for congenital birth defects. It can be seen in fetal neural tube defects (NTD), abdominal wall defects, congenital renal disease, esophageal atresia, other fetal distress situations (eg, threatened abortion and fetal demise), multiple pregnancy, placental chorioangioma and placental lakes and other fetal and maternal conditions. Association with various adverse pregnancy outcomes reported. Usually assessed in second trimester and values above 2.5 MoM considered as significantly increased. For NTD, a screen-negative result indicates that the calculated alpha-fetoprotein (AFP) multiple of the median (MoM) falls below the established cutoff of 2.50 MoM. A negative screen does not guarantee the absence of neural tube defects. A screen-positive result indicates that the calculated AFP MoM is 2.50 or greater and may indicate an increased risk for open NTD. The actual risk depends on the level of AFP and the individual's pretest risk of having a child with NTD based on family history, geographical location, maternal conditions such as diabetes and epilepsy, and use of folate prior to conception. A screen-positive result does not infer a definitive diagnosis of a NTD but indicates that further evaluation should be considered. Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. Elevated maternal circulating alpha-fetoprotein concentration HP:0011432 Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy. PMID:32039804 An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. 2012-03-17T07:47:39Z UMLS:C4021150 High maternal serum chorionic gonadotropin High maternal serum hCG human_phenotype HP:0011433 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. High maternal circulating chorionic gonadotropin concentration HP:0011433 An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. PMID:2447576 https://orcid.org/0000-0002-6410-0882 An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. 2012-03-17T07:48:26Z UMLS:C4021149 Low maternal serum chorionic gonadotropin Low maternal serum hCG human_phenotype HP:0011434 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. Low maternal circulating chorionic gonadotropin concentration HP:0011434 An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age. PMID:2447576 https://orcid.org/0000-0002-6410-0882 An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. 2012-03-17T07:51:25Z UMLS:C4023360 Low maternal serum PAPP-A human_phenotype HP:0011435 Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. Low maternal circulating PAPP-A concentration HP:0011435 An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age. PMID:19038077 https://orcid.org/0000-0002-6410-0882 An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. 2012-03-17T07:52:25Z UMLS:C4023359 human_phenotype HP:0011436 Abnormal maternal serum screening HP:0011436 An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy. PMID:19038077 https://orcid.org/0000-0002-6410-0882 A medical history of a fetus or child born to a mother with an autoimmune disease. 2012-03-17T07:54:31Z UMLS:C4023358 human_phenotype HP:0011437 Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. Maternal autoimmune disease HP:0011437 A medical history of a fetus or child born to a mother with an autoimmune disease. https://orcid.org/0000-0002-6410-0882 A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. 2012-03-17T07:59:06Z UMLS:C4023357 human_phenotype HP:0011438 Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). Maternal teratogenic exposure HP:0011438 A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. https://orcid.org/0000-0002-6410-0882 Rhabdomyolysis induced by anesthesia. 2012-03-18T12:19:01Z UMLS:C4023356 human_phenotype HP:0011439 Anesthetic-induced rhabdomylosis HP:0011439 Rhabdomyolysis induced by anesthesia. https://orcid.org/0000-0002-0736-9199 Rhabdomyolysis induced by intake of alcohol. 2012-03-18T12:21:35Z UMLS:C4023355 human_phenotype HP:0011440 Alcohol-induced rhabdomyolysis HP:0011440 Rhabdomyolysis induced by intake of alcohol. https://orcid.org/0000-0002-0736-9199 An abnormality of the medulla oblongata, the lower half of the brainstem. 2012-03-18T01:51:24Z UMLS:C4021148 Abnormality of the medulla oblongata Abnormality of the myencephalon human_phenotype HP:0011441 The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. Abnormal medulla oblongata morphology HP:0011441 An abnormality of the medulla oblongata, the lower half of the brainstem. https://orcid.org/0000-0002-0736-9199 An anomaly of the control or production of movement in the central nervous system. 2012-03-18T02:29:04Z UMLS:C4023354 Abnormality of central motor function human_phenotype HP:0011442 Abnormal central motor function HP:0011442 An anomaly of the control or production of movement in the central nervous system. https://orcid.org/0000-0002-0736-9199 2012-03-18T02:40:46Z UMLS:C4023353 Abnormality of coordination Coordination issue human_phenotype HP:0011443 Abnormality of coordination HP:0011443 Abnormality of coordination Coordination issue A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. 2012-03-18T03:30:10Z SNOMEDCT_US:36423000 UMLS:C0231521 human_phenotype HP:0011444 Decorticate posturing Decorticate rigidity HP:0011444 A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus. https://orcid.org/0000-0002-0736-9199 A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. 2012-03-18T03:53:04Z SNOMEDCT_US:230780007 SNOMEDCT_US:75019001 UMLS:C0270742 human_phenotype Dyskinetic cerebral palsy HP:0011445 Athetoid cerebral palsy is caused by damage to the basal ganglia. Athetoid cerebral palsy HP:0011445 A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. https://orcid.org/0000-0002-1511-5893 Cognitive, psychiatric, or memory anomaly. 2012-03-18T04:23:59Z UMLS:C4023352 Abnormality of higher mental function human_phenotype HP:0011446 This includes abnormalities in speech, mood, emotions, behavior, and cognition. Abnormality of mental function HP:0011446 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. 2012-03-18T04:44:22Z SNOMEDCT_US:85559002 UMLS:C0030779 UMLS:C4023351 Hyposegmentation of neutrophil nuclei in peripheral blood human_phenotype Pelger-Huet anomaly HP:0011447 Hyposegmented cells are neutrophils with fewer than three nuclear lobes. Hyposegmentation of neutrophil nuclei HP:0011447 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. https://orcid.org/0000-0002-0736-9199 Hyposegmentation of neutrophil nuclei in peripheral blood https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-8169-9049 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. 2012-03-18T05:09:48Z HP:0002541 SNOMEDCT_US:39055007 UMLS:C0238651 Abnormal rhythmic movements of ankle human_phenotype HP:0011448 Ankle clonus is generally caused by corticospinal disease. Ankle clonus HP:0011448 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. https://orcid.org/0000-0002-0736-9199 Abnormal rhythmic movements of ankle https://orcid.org/0000-0002-6548-5200 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. 2012-03-18T05:11:32Z HP:0002325 SNOMEDCT_US:54360005 UMLS:C0520823 Patellar clonus human_phenotype HP:0011449 Knee clonus HP:0011449 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. https://orcid.org/0000-0002-0736-9199 Increased susceptibility to infections of the central nervous system, as manifested by recurrent, severe, or invasive infections involving the brain, meninges, or spinal cord. This can include infections caused by opportunistic or atypical pathogens, or common pathogens presenting with unusual severity or in anatomical locations. 2012-03-18T05:57:29Z SNOMEDCT_US:128117002 UMLS:C0007684 Central nervous system infection human_phenotype HP:0011450 Unusual CNS infection HP:0011450 Central nervous system infection https://orcid.org/0000-0001-5208-3432 Head circumference below 2 standard deviations below the mean for age and gender at birth. 2012-03-18T06:50:36Z Congenital small head Congenital small head circumference Small head circumference present at birth Small head present at birth Small skull present at birth UMLS:C2677180 UMLS:C4020749 Congenital decreased head circumference Congenital microcephaly Congenital small skull Decreased head circumference present at birth Microcephaly present at birth Small cranium present at birth human_phenotype Head circumference small for gestational age HP:0011451 Primary microcephaly HP:0011451 Head circumference below 2 standard deviations below the mean for age and gender at birth. https://orcid.org/0000-0002-0736-9199 Congenital small head https://orcid.org/0000-0001-5889-4463 Congenital small head circumference https://orcid.org/0000-0001-5889-4463 Small head circumference present at birth https://orcid.org/0000-0001-5889-4463 Small head present at birth https://orcid.org/0000-0001-5889-4463 Small skull present at birth https://orcid.org/0000-0001-5889-4463 Congenital decreased head circumference https://orcid.org/0000-0001-5889-4463 Congenital small skull https://orcid.org/0000-0001-5889-4463 Decreased head circumference present at birth https://orcid.org/0000-0001-5889-4463 Microcephaly present at birth https://orcid.org/0000-0001-5889-4463 Small cranium present at birth https://orcid.org/0000-0001-5889-4463 Head circumference small for gestational age https://orcid.org/0000-0001-5889-4463 An abnormality of the function of the middle ear. 2012-03-19T09:33:03Z UMLS:C4021846 Functional abnormality of the middle ear human_phenotype HP:0011452 The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. Functional abnormality of the middle ear HP:0011452 An abnormality of the function of the middle ear. https://orcid.org/0000-0002-0736-9199 Functional abnormality of the middle ear An abnormality of the incus, an ossicle in the middle ear. 2012-03-19T09:38:20Z UMLS:C4023350 Abnormality of the incus human_phenotype HP:0011453 Abnormal incus morphology HP:0011453 An abnormality of the incus, an ossicle in the middle ear. HPO_CONTRIBUTOR:DDD_dfitzpatrick An abnormality of the malleus, an ossicle in the middle ear. 2012-03-19T09:40:02Z UMLS:C4023349 Abnormality of the malleus human_phenotype HP:0011454 Abnormal malleus morphology HP:0011454 An abnormality of the malleus, an ossicle in the middle ear. HPO_CONTRIBUTOR:DDD_dfitzpatrick Aplasia of the malleus. 2012-03-19T09:40:08Z SNOMEDCT_US:300169003 UMLS:C0576900 human_phenotype HP:0011455 Absent malleus HP:0011455 Aplasia of the malleus. HPO_CONTRIBUTOR:DDD_dfitzpatrick Aplasia of the stapes. 2012-03-19T09:42:52Z SNOMEDCT_US:300178009 UMLS:C0576909 human_phenotype HP:0011456 Absent stapes HP:0011456 Aplasia of the stapes. HPO_CONTRIBUTOR:DDD_dfitzpatrick This term refers to the loss of eyelashes that were previously present. 2012-03-25T09:15:21Z SNOMEDCT_US:34887006 UMLS:C0271321 Ciliary Madarosis Eyelashes fell out Loss of eyelashes Milphosis Missing eyelashes human_phenotype HP:0011457 Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. Loss of eyelashes HP:0011457 This term refers to the loss of eyelashes that were previously present. https://orcid.org/0000-0002-0736-9199 Eyelashes fell out https://orcid.org/0000-0001-5889-4463 Loss of eyelashes Missing eyelashes https://orcid.org/0000-0001-5889-4463 A subjective manifestation of disease localized to the abdomen. 2012-03-25T05:35:45Z UMLS:C0740651 human_phenotype HP:0011458 Abdominal symptom HP:0011458 The presence of a carcinoma of the esophagus. 2012-03-25T06:55:07Z SNOMEDCT_US:372138000 UMLS:C0152018 human_phenotype HP:0011459 Esophageal carcinoma HP:0011459 The presence of a carcinoma of the esophagus. NCIT:C3513 https://orcid.org/0000-0002-6410-0882 Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). 2012-03-25T06:57:48Z UMLS:C4023348 human_phenotype HP:0011460 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. Embryonal onset HP:0011460 Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation). https://orcid.org/0000-0002-7744-1790 Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). 2012-03-25T06:58:21Z UMLS:C4023347 Foetal onset human_phenotype HP:0011461 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. Fetal onset HP:0011461 Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). https://orcid.org/0000-0002-7744-1790 Foetal onset Onset of disease at the age of between 16 and 40 years. 2012-03-25T07:01:15Z UMLS:C3554568 human_phenotype HP:0011462 Young adult onset HP:0011462 Onset of disease at the age of between 16 and 40 years. https://orcid.org/0000-0002-6410-0882 Onset of disease at the age of between 1 and 5 years. 2012-03-25T07:16:20Z HP:0003586 HP:0003617 UMLS:C1837352 Symptoms begin in childhood human_phenotype HP:0011463 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). Childhood onset HP:0011463 Onset of disease at the age of between 1 and 5 years. https://orcid.org/0000-0002-6410-0882 Symptoms begin in childhood https://orcid.org/0000-0002-6548-5200 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. 2012-03-25T07:36:49Z UMLS:C4023346 human_phenotype HP:0011464 Aganglionosis of the small intestine HP:0011464 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine. https://orcid.org/0000-0002-6410-0882 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. 2012-03-25T07:38:12Z UMLS:C4023345 human_phenotype HP:0011465 Duodenal aganglionosis HP:0011465 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum. https://orcid.org/0000-0002-6410-0882 Absence or underdevelopment of the gallbladder. 2012-03-25T07:40:20Z UMLS:C4023344 Absent/small gallbladder Absent/underdeveloped gallbladder human_phenotype HP:0011466 Aplasia/Hypoplasia of the gallbladder HP:0011466 Absence or underdevelopment of the gallbladder. https://orcid.org/0000-0002-0736-9199 Absent/small gallbladder https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped gallbladder https://orcid.org/0000-0001-5208-3432 A developmental defect in which the gallbladder fails to form. 2012-03-25T07:41:14Z SNOMEDCT_US:86507001 UMLS:C0266251 Absent gallbladder Agenesis of the gallbladder Aplasia of the gallbladder human_phenotype HP:0011467 Absent gallbladder HP:0011467 A developmental defect in which the gallbladder fails to form. https://orcid.org/0000-0002-6410-0882 Absent gallbladder Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. 2012-03-25T07:45:47Z Myoclonus of facial muscles SNOMEDCT_US:230335009 SNOMEDCT_US:32402008 UMLS:C0278151 UMLS:C0338467 UMLS:C0858722 UMLS:C4280324 UMLS:C4280325 Cramping of facial muscles Facial spasms Facial tics Jerking of facial muscles Mimic spasms Spasms of facial muscles Twitching of facial muscles human_phenotype Involuntary facial muscle spasms Muscle spasm of face HP:0011468 Facial tics HP:0011468 Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. https://orcid.org/0000-0003-2958-5076 Myoclonus of facial muscles https://orcid.org/0000-0001-5889-4463 Cramping of facial muscles https://orcid.org/0000-0001-5889-4463 Facial spasms https://orcid.org/0000-0001-5889-4463 Facial tics Jerking of facial muscles https://orcid.org/0000-0001-5889-4463 Mimic spasms https://orcid.org/0000-0001-5889-4463 Spasms of facial muscles https://orcid.org/0000-0001-5889-4463 Twitching of facial muscles https://orcid.org/0000-0001-5889-4463 Involuntary facial muscle spasms https://orcid.org/0000-0001-5889-4463 Muscle spasm of face https://orcid.org/0000-0001-5889-4463 Regurgitation of milk through the nose. 2012-03-25T07:52:19Z SNOMEDCT_US:85023004 UMLS:C0232608 human_phenotype HP:0011469 Nasal regurgitation HP:0011469 Regurgitation of milk through the nose. HPO_CONTRIBUTOR:DDD_ncarter Feeding problem necessitating nasogastric tube feeding. 2012-03-25T07:53:46Z UMLS:C4023343 human_phenotype HP:0011470 This is a severe form of feeding problems in infancy. Nasogastric tube feeding in infancy HP:0011470 Feeding problem necessitating nasogastric tube feeding. HPO_CONTRIBUTOR:DDD_ncarter Feeding problem necessitating gastrostomy tube feeding. 2012-03-25T10:00:00Z UMLS:C4020748 UMLS:C4023342 human_phenotype PEG-fed in infancy HP:0011471 This is an extremely severe form of feeding problems in infancy. Gastrostomy tube feeding in infancy HP:0011471 Feeding problem necessitating gastrostomy tube feeding. HPO_CONTRIBUTOR:DDD_ncarter 2012-03-26T08:16:03Z UMLS:C4023341 Abnormal shape of small intestinal villus Abnormality of small intestinal villus morphology human_phenotype HP:0011472 Abnormal small intestinal villus morphology HP:0011472 Abnormal shape of small intestinal villus https://orcid.org/0000-0001-5208-3432 The enteric villi are atrophic or absent. 2012-03-26T08:18:31Z SNOMEDCT_US:275403002 SNOMEDCT_US:75581001 UMLS:C0267456 UMLS:C0554101 UMLS:C1833058 UMLS:C1859541 UMLS:C2677378 UMLS:C4020747 Atrophy of small intestinal villi Villous degeneration human_phenotype Biopsy shows villous atrophy Duodenal villous atrophy Small intestine biopsy shows villous atrophy Variable degree of villous atrophy HP:0011473 Villous atrophy HP:0011473 The enteric villi are atrophic or absent. https://orcid.org/0000-0002-0736-9199 Villous degeneration https://orcid.org/0000-0001-5208-3432 Biopsy shows villous atrophy https://orcid.org/0000-0002-5316-1399 Duodenal villous atrophy https://orcid.org/0000-0002-5316-1399 Small intestine biopsy shows villous atrophy https://orcid.org/0000-0002-5316-1399 Variable degree of villous atrophy https://orcid.org/0000-0002-5316-1399 Sensorineural hearing impairment with childhood onset. 2012-03-30T07:18:09Z UMLS:C4023340 human_phenotype HP:0011474 Childhood onset sensorineural hearing impairment HP:0011474 Sensorineural hearing impairment with childhood onset. HPO_CONTRIBUTOR:DDD_dfitzpatrick Persistence of the stapedial artery, which normally regresses during embryonic life. 2012-03-31T08:38:23Z UMLS:C4023339 human_phenotype HP:0011475 Persistent stapedial artery HP:0011475 Persistence of the stapedial artery, which normally regresses during embryonic life. HPO_CONTRIBUTOR:DDD_mbitner-glidicz Complete loss of hearing related to a sensorineural defect. 2012-03-31T10:21:17Z UMLS:C4023338 human_phenotype HP:0011476 Profound sensorineural hearing impairment HP:0011476 Complete loss of hearing related to a sensorineural defect. HPO_CONTRIBUTOR:DDD_dfitzpatrick In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. 2012-04-01T10:54:17Z SNOMEDCT_US:307677002 UMLS:C0585545 human_phenotype HP:0011477 In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. Upbeat nystagmus HP:0011477 In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. PMID:21505601 https://orcid.org/0000-0002-0736-9199 Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. 2012-04-01T12:19:11Z UMLS:C2675590 Complete anophthalmia Complete anophthalmos Completely missing eyeball Total anophthalmia Total anophthalmos human_phenotype HP:0011478 True anophthalmia implies an early failure of eye development. True anophthalmia HP:0011478 Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. HPO_CONTRIBUTOR:DDD_ncarter Complete anophthalmia https://orcid.org/0000-0001-5889-4463 Completely missing eyeball https://orcid.org/0000-0001-5889-4463 Total anophthalmia https://orcid.org/0000-0001-5889-4463 An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. 2012-04-01T09:08:05Z UMLS:C4023337 Abnormality of the lacrimal punctum human_phenotype HP:0011479 Abnormal lacrimal punctum morphology HP:0011479 An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid. https://orcid.org/0000-0002-0736-9199 A developmental anomaly characterized by abnormal smallness of one eye. 2012-04-01T12:35:57Z UMLS:C3640024 UMLS:C4280323 Abnormally small eyeball on one side Unilateral nanophthalmos human_phenotype HP:0011480 Unilateral microphthalmos HP:0011480 A developmental anomaly characterized by abnormal smallness of one eye. HPO_CONTRIBUTOR:DDD_ncarter Abnormally small eyeball on one side https://orcid.org/0000-0001-5889-4463 Unilateral nanophthalmos https://orcid.org/0000-0001-5889-4463 An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. 2012-04-01T09:11:55Z UMLS:C1858567 Abnormality of the lacrimal canaliculus Abnormality of the lacrimal duct human_phenotype HP:0011481 Abnormal lacrimal duct morphology HP:0011481 An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. https://orcid.org/0000-0002-0736-9199 Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. 2012-04-01T09:35:54Z UMLS:C4023336 Abnormality of the lacrimal gland human_phenotype HP:0011482 Abnormal lacrimal gland morphology HP:0011482 Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye. https://orcid.org/0000-0002-0736-9199 Adhesions between the iris and the cornea. 2012-04-02T08:50:23Z SNOMEDCT_US:70992005 UMLS:C0152252 Anterior synechiae Cornea-iris adhesion Iridocorneal adhesions Iridocorneal synechia human_phenotype HP:0011483 Anterior synechiae of the anterior chamber HP:0011483 Adhesions between the iris and the cornea. HPO_CONTRIBUTOR:DDD_ncarter Adhesions between the iris and the lens. 2012-04-02T08:50:59Z SNOMEDCT_US:111512005 UMLS:C0152253 Iridolenticular adhesions Posterior synechiae human_phenotype HP:0011484 Posterior synechiae of the anterior chamber HP:0011484 Adhesions between the iris and the lens. HPO_CONTRIBUTOR:DDD_ncarter Developmental abnormality in which the lens and cornea are not separated. 2012-04-02T08:52:43Z UMLS:C4023334 human_phenotype HP:0011485 Corneolenticular adhesion HP:0011485 Developmental abnormality in which the lens and cornea are not separated. HPO_CONTRIBUTOR:DDD_ncarter An abnormal anteroposterior thickness of the cornea. 2012-04-02T10:15:01Z UMLS:C4023333 Abnormality of corneal thickness human_phenotype HP:0011486 Abnormal corneal thickness HP:0011486 An abnormal anteroposterior thickness of the cornea. https://orcid.org/0000-0001-8727-6592 A increased anteroposterior thickness of the cornea. 2012-04-02T10:17:35Z UMLS:C3810451 human_phenotype HP:0011487 Increased corneal thickness HP:0011487 A increased anteroposterior thickness of the cornea. https://orcid.org/0000-0002-0736-9199 Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. 2012-04-02T10:18:50Z UMLS:C4023332 Abnormality of corneal endothelium human_phenotype HP:0011488 Abnormal corneal endothelium morphology HP:0011488 Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. https://orcid.org/0000-0001-8727-6592 Abnormal migration of corneal endothelium. 2012-04-02T10:20:17Z UMLS:C4023331 human_phenotype HP:0011489 Can be seen in posterior polymorphous corneal dystrophy. Abnormal migration of corneal endothelium HP:0011489 Abnormal migration of corneal endothelium. HPO_CONTRIBUTOR:DDD_ncarter Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. 2012-04-02T10:23:11Z UMLS:C4023330 Abnormality of Descemet's membrane human_phenotype HP:0011490 Abnormal Descemet membrane morphology HP:0011490 Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. https://orcid.org/0000-0001-8727-6592 A reduction in the number of corneal endothelial cells. 2012-04-02T10:24:23Z UMLS:C4023329 human_phenotype HP:0011491 Reduced number of corneal endothelial cells HP:0011491 A reduction in the number of corneal endothelial cells. HPO_CONTRIBUTOR:DDD_ncarter An abnormality of the stroma of cornea, also known as the substantia propria of cornea. 2012-04-02T10:28:49Z UMLS:C4023328 Abnormality of corneal stroma human_phenotype HP:0011492 Abnormal corneal stroma morphology HP:0011492 An abnormality of the stroma of cornea, also known as the substantia propria of cornea. HPO_CONTRIBUTOR:DDD_ncarter https://orcid.org/0000-0002-0736-9199 Reduced transparency of the central portion of the corneal stroma. 2012-04-02T10:36:22Z UMLS:C4023327 human_phenotype HP:0011493 Central opacification of the cornea HP:0011493 Reduced transparency of the central portion of the corneal stroma. HPO_CONTRIBUTOR:DDD_ncarter Generalized reduced transparency of the stroma of the cornea. 2012-04-02T10:39:50Z UMLS:C4021147 Generalised opacification of the cornea human_phenotype HP:0011494 Generalized opacification of the cornea HP:0011494 Generalized reduced transparency of the stroma of the cornea. https://orcid.org/0000-0001-8727-6592 Generalised opacification of the cornea Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. 2012-04-03T07:10:49Z UMLS:C4023326 Abnormality of corneal epithelium human_phenotype HP:0011495 Abnormal corneal epithelium morphology HP:0011495 Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. https://orcid.org/0000-0001-8727-6592 Ingrowth of new blood vessels into the cornea. 2012-04-03T07:15:37Z SNOMEDCT_US:19161004 UMLS:C0085109 Corneal neovascularisation Corneal vascularization Limbal neovascularization New blood vessel formation in cornea Corneal pannus human_phenotype HP:0011496 New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization. Corneal neovascularization HP:0011496 Ingrowth of new blood vessels into the cornea. HPO_CONTRIBUTOR:DDD_ncarter PMID:22898649 Corneal neovascularisation New blood vessel formation in cornea https://orcid.org/0000-0001-5208-3432 Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. 2012-04-03T07:32:43Z HP:0025319 SNOMEDCT_US:51995000 UMLS:C0154916 Iris neovascularization Neovascularization of the iris New blood vessel formation in iris human_phenotype HP:0011497 See Figure 1 of PMID:29881517. Rubeosis iridis HP:0011497 Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification. PMID:27895936 PMID:29881517 New blood vessel formation in iris https://orcid.org/0000-0001-5208-3432 HP:0000526 2012-04-03T07:38:24Z human_phenotype HP:0011498 obsolete Partial aniridia true HP:0011498 Abnormal dilatation of the iris. 2012-04-03T07:49:21Z SNOMEDCT_US:37125009 UMLS:C0026961 Dilated pupil human_phenotype HP:0011499 Mydriasis HP:0011499 Abnormal dilatation of the iris. HPO_CONTRIBUTOR:DDD_ncarter Dilated pupil https://orcid.org/0000-0001-5208-3432 Multiple pupils. 2012-04-04T07:19:56Z SNOMEDCT_US:204159004 UMLS:C0344544 Multiple pupils human_phenotype HP:0011500 Polycoria HP:0011500 Multiple pupils. HPO_CONTRIBUTOR:DDD_ncarter Multiple pupils https://orcid.org/0000-0001-5208-3432 A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. 2012-04-04T07:54:36Z SNOMEDCT_US:95480008 UMLS:C0344262 human_phenotype HP:0011501 Anterior lenticonus HP:0011501 A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. https://orcid.org/0000-0001-8727-6592 A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. 2012-04-04T07:55:12Z SNOMEDCT_US:95482000 UMLS:C0344263 human_phenotype HP:0011502 Posterior lenticonus HP:0011502 A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. https://orcid.org/0000-0001-8727-6592 Congenital absence of the fovea. 2012-04-06T08:40:21Z UMLS:C4023324 Absent fovea human_phenotype HP:0011503 Aplasia of the fovea HP:0011503 Congenital absence of the fovea. https://orcid.org/0000-0002-0736-9199 Absent fovea https://orcid.org/0000-0001-5208-3432 Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. 2012-04-06T08:57:53Z human_phenotype HP:0011504 Bull's eye maculopathy HP:0011504 Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. PMID:31704701 https://orcid.org/0000-0001-8727-6592 Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. 2012-04-06T09:12:59Z SNOMEDCT_US:193387007 UMLS:C0024440 Cystoid macular edema human_phenotype HP:0011505 Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. Cystoid macular edema HP:0011505 Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. HPO_CONTRIBUTOR:DDD_ncarter PMID:19668445 Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. 2012-04-06T09:28:46Z UMLS:C4023323 Choroidal neovascular membrane human_phenotype HP:0011506 Choroidal neovascularization can be extrafoveal, subfoveal, or juxtafoveal. Choroidal neovascularization HP:0011506 Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium. HPO_CONTRIBUTOR:DDD_ncarter Pale, often indistinct, multiple lesions of the macula, of variable shape that is not round. The lesions can be notched, angular, or pisciform (said to resemble a fish). 2012-04-06T09:38:42Z UMLS:C4023322 human_phenotype HP:0011507 Macular flecks can be seen in Stargardt disease as well as several types of pattern dystrophy. Macular flecks HP:0011507 Pale, often indistinct, multiple lesions of the macula, of variable shape that is not round. The lesions can be notched, angular, or pisciform (said to resemble a fish). https://orcid.org/0000-0001-8727-6592 A macular hole is a full thickness gap in the macula, located in the center of the retina. 2012-04-06T09:39:58Z human_phenotype HP:0011508 Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. Macular hole HP:0011508 A macular hole is a full thickness gap in the macula, located in the center of the retina. HPO_CONTRIBUTOR:DDD_ncarter Increased amount of pigmentation in the macula. 2012-04-06T09:52:11Z UMLS:C0745109 human_phenotype HP:0011509 Macular hyperpigmentation HP:0011509 Increased amount of pigmentation in the macula. HPO_CONTRIBUTOR:DDD_ncarter Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. 2012-04-06T09:54:42Z SNOMEDCT_US:18695008 UMLS:C1260959 human_phenotype HP:0011510 Drusen HP:0011510 Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in the Bruch membrane of the eye. https://orcid.org/0000-0001-8727-6592 Splitting of the retina in the macular region. 2012-04-06T09:55:43Z UMLS:C4023321 human_phenotype HP:0011511 This abnormality can be seen in genetic conditions, such as X-linked retinoschisis and retinitis pigmentosa, and more diffusely in autosomal recessive bestrophinopathy. It can also be tractional or idiopathic. Macular schisis HP:0011511 Splitting of the retina in the macular region. https://orcid.org/0000-0001-8727-6592 Increased pigmentation of the fundus 2012-04-06T10:34:11Z UMLS:C4021146 Hyperpigmentation of the fundus Hyperpigmented fundi Hyperpigmented fundus human_phenotype HP:0011512 Fundus hyperpigmentation HP:0011512 Increased pigmentation of the fundus HPO_CONTRIBUTOR:DDD_ncarter https://orcid.org/0000-0003-0986-4123 A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous hemangioma are described as having a 'cluster of grapes' appearance. 2012-04-06T04:12:54Z HP:0030508 SNOMEDCT_US:312937006 UMLS:C0730304 Retinal cavernous angioma Retinal cavernous haemangioma human_phenotype HP:0011513 The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. These hemangiomas can be associated with cavernous brain hemangiomas. The use of "Retinal cavernous angioma" is not recommended, as strictly speaking only hemangiomas occur in the retina. Retinal cavernous hemangioma HP:0011513 A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous hemangioma are described as having a 'cluster of grapes' appearance. PMID:20844673 https://orcid.org/0000-0002-0736-9199 Retinal cavernous haemangioma An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. 2012-04-06T06:00:34Z UMLS:C4023320 human_phenotype HP:0011514 Abnormality of binocular vision HP:0011514 An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. HPO_CONTRIBUTOR:DDD_ncarter Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. 2012-04-06T06:03:49Z UMLS:C4023319 human_phenotype HP:0011515 Abnormal stereopsis HP:0011515 Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head. https://orcid.org/0000-0001-8727-6592 A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. 2012-04-06T06:40:03Z SNOMEDCT_US:102450007 UMLS:C0302129 Rod monochromacy Rod monochromatism human_phenotype HP:0011516 The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. Achromatopsia HP:0011516 A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. PMID:12015282 https://orcid.org/0000-0001-8727-6592 The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. 2012-04-06T06:40:33Z UMLS:C4023318 human_phenotype HP:0011517 There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. Cone monochromacy HP:0011517 The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors. HPO_CONTRIBUTOR:DDD_ncarter Individuals affected by dichromacy possess only two types of cones, instead of three. 2012-04-06T06:46:27Z UMLS:C4023317 human_phenotype HP:0011518 The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. Dichromacy HP:0011518 Individuals affected by dichromacy possess only two types of cones, instead of three. https://orcid.org/0000-0002-0736-9199 Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. 2012-04-06T06:57:10Z UMLS:C4023316 human_phenotype HP:0011519 Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. Anomalous trichromacy HP:0011519 Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones. https://orcid.org/0000-0002-0736-9199 A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. 2012-04-06T07:14:19Z SNOMEDCT_US:246674000 SNOMEDCT_US:77479002 UMLS:C0155016 Deuteranomoly Green-weak human_phenotype HP:0011520 Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. Deuteranomaly HP:0011520 A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. https://orcid.org/0000-0002-0736-9199 Green-weak https://orcid.org/0000-0001-6908-9849 Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. 2012-04-06T07:34:40Z SNOMEDCT_US:246674000 SNOMEDCT_US:77479002 UMLS:C0155016 Green-blind human_phenotype HP:0011521 Blue and red cones only; no functional green cones. Deuteranopia HP:0011521 Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. https://orcid.org/0000-0001-8727-6592 Green-blind https://orcid.org/0000-0001-6908-9849 Blue and green cones only; no functional red cones. 2012-04-06T07:45:06Z SNOMEDCT_US:51445007 UMLS:C0155015 Red-blind human_phenotype HP:0011522 Protanopia HP:0011522 Blue and green cones only; no functional red cones. https://orcid.org/0000-0001-8727-6592 Red-blind https://orcid.org/0000-0001-6908-9849 An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. 2012-04-06T09:05:29Z SNOMEDCT_US:37761009 UMLS:C0271119 human_phenotype HP:0011523 Iris cyst HP:0011523 An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. https://orcid.org/0000-0001-8727-6592 Malignant tumor of melanocytes affecting the iris. 2012-04-06T09:06:41Z NCIT:C3224 SNOMEDCT_US:255012009 UMLS:C0346373 human_phenotype HP:0011524 Iris melanoma HP:0011524 Malignant tumor of melanocytes affecting the iris. HPO_CONTRIBUTOR:DDD_ncarter A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. 2012-04-06T09:11:42Z SNOMEDCT_US:95711003 UMLS:C0346376 Eye freckle human_phenotype HP:0011525 Iris nevus HP:0011525 A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated. HPO_CONTRIBUTOR:DDD_ncarter Eye freckle https://orcid.org/0000-0001-6908-9849 An abnormal shape of the lens. 2012-04-06T09:16:11Z UMLS:C4023314 Abnormality of lens shape human_phenotype HP:0011526 Abnormality of lens shape HP:0011526 An abnormal shape of the lens. https://orcid.org/0000-0002-0736-9199 Abnormality of lens shape Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. 2012-04-06T09:17:01Z Bulging of eye lens SNOMEDCT_US:419281007 UMLS:C1622439 UMLS:C4280322 human_phenotype HP:0011527 Lentiglobus HP:0011527 Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. https://orcid.org/0000-0001-8727-6592 Bulging of eye lens https://orcid.org/0000-0001-6908-9849 Sharply demarcated hyperpigmentation of the retinal pigment epithelium (RPE) that is congenital and of no functional significance. 2012-04-06T09:24:44Z UMLS:C4021145 Single isolated CHRPE Single isolated congenital hypertrophy of retinal pigment epithelium human_phenotype HP:0011528 These lesions may become depigmented with time, leaving a hyperpigmented border. Solitary congenital hypertrophy of retinal pigment epithelium HP:0011528 Sharply demarcated hyperpigmentation of the retinal pigment epithelium (RPE) that is congenital and of no functional significance. https://orcid.org/0000-0001-8727-6592 Unilateral or bilateral small, well-demarcated pigmented lesions localized in the retinal pigment epithelium (RPE). Lesions are dark in the center, with a pale circumference and are mostly located in the periphery. 2012-04-06T09:25:33Z UMLS:C4021144 Multiple bilateral CHRPE Multiple bilateral congenital hypertrophy of retinal pigment epithelium human_phenotype HP:0011529 Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. Multiple congenital hypertrophy of retinal pigment epithelium HP:0011529 Unilateral or bilateral small, well-demarcated pigmented lesions localized in the retinal pigment epithelium (RPE). Lesions are dark in the center, with a pale circumference and are mostly located in the periphery. https://orcid.org/0000-0001-8727-6592 Multiple bilateral CHRPE A full-thickness defect in the retina. 2012-04-06T09:39:01Z SNOMEDCT_US:232003005 SNOMEDCT_US:302888003 SNOMEDCT_US:40024006 SNOMEDCT_US:95690009 UMLS:C0035321 Retinal holes human_phenotype HP:0011530 A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. Retinal hole HP:0011530 A full-thickness defect in the retina. https://orcid.org/0000-0002-0736-9199 Retinal holes https://orcid.org/0000-0002-5316-1399 Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. 2012-04-07T08:21:01Z SNOMEDCT_US:95802009 UMLS:C0235812 Hyalitis Vitreitis human_phenotype HP:0011531 Vitritis HP:0011531 Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. https://orcid.org/0000-0002-0736-9199 A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. 2012-04-07T09:21:46Z SNOMEDCT_US:247156002 UMLS:C0423431 human_phenotype HP:0011532 Tsis type of retinal exudate is due to chorioretinal vascular disease and can be can be seen in Coats disease or retinal angioma. Subretinal exudate HP:0011532 A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. https://orcid.org/0000-0002-0736-9199 The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. 2012-04-07T09:52:37Z UMLS:C1860405 Snowflake retinal degeneration human_phenotype HP:0011533 Snowflake vitreoretinal degeneration HP:0011533 The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. HPO_CONTRIBUTOR:DDD_ncarter PMID:18179896 Abnormality of the spatial relationship of the cardiac segments to other components of the heart. 2012-04-07T10:27:48Z UMLS:C4023313 human_phenotype HP:0011534 Abnormal spatial orientation of the cardiac segments HP:0011534 Abnormality of the spatial relationship of the atria to other components of the heart. 2012-04-07T10:31:16Z SNOMEDCT_US:445898001 UMLS:C2959688 Abnormal location of heart atrium human_phenotype HP:0011535 Abnormal atrial arrangement HP:0011535 Abnormality of the spatial relationship of the atria to other components of the heart. HPO_CONTRIBUTOR:DDD_dbrown Abnormal location of heart atrium https://orcid.org/0000-0001-6908-9849 Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. 2012-04-07T10:36:52Z UMLS:C3178806 human_phenotype HP:0011536 Right atrial isomerism HP:0011536 Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. HPO_CONTRIBUTOR:DDD_dbrown PMID:3408620 In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. 2012-04-07T10:37:51Z EPCC:03.01.05 ICD-10:Q20.6 UMLS:C3178807 human_phenotype HP:0011537 Left and right hand side atria have left atrial morphology. Left atrial isomerism HP:0011537 In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. HPO_CONTRIBUTOR:DDD_dbrown PMID:3408620 Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. 2012-04-07T10:40:16Z EPCC:03.01.03 Fyler:0150 Fyler:150 ICD-10:Q89.3 UMLS:C4023312 human_phenotype HP:0011538 Atrial situs inversus HP:0011538 Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side. HPO_CONTRIBUTOR:DDD_dbrown Common atrium without defining morphologic features. 2012-04-07T10:43:42Z SNOMEDCT_US:448681000 UMLS:C3164429 Atrial heterotaxy Atrial situs ambiguus human_phenotype HP:0011539 Atrial situs ambiguous HP:0011539 Common atrium without defining morphologic features. HPO_CONTRIBUTOR:DDD_dbrown Atrial heterotaxy https://orcid.org/0000-0001-6908-9849 Atrial situs ambiguus https://orcid.org/0000-0001-6908-9849 Congenitally corrected transposition of the great arteries (ccTGA) is a discordance of atrioventricular (AV) and ventriculoarterial connections. The anatomy of ccTGA involves systemic venous drainage to the morphologic right atrium (mRA), which is connected via the mitral valve to the morphologic left ventricle (mLV) whose outflow is the pulmonary arterial system. The pulmonary venous drainage arrives at the morphologic left atrium (mLA), which crosses the tricuspid valve into the morphologic right ventricle (mRV) with outflow into the systemic arterial system. In isolation, ccTGA has an in-series circulation without mixing; therefore, the presence or absence of associated defects dictates the patient's clinical presentation. 2012-04-07T10:48:56Z HP:0011605 HP:0031349 EPCC:01.01.03 ICD-10:Q20.5 SNOMEDCT_US:56743000 SNOMEDCT_US:83799000 UMLS:C0232301 UMLS:C0344616 Atrioventricular and ventriculo-arterial discordance Congenitally corrected TGA Congenitally corrected transposition of the great arteries Discordant atrioventricular a ventriculo-arterial connections L-TGA L-transposition of the great arteries Physiologically corrected transposition of the great vessels cTGA cTGV ccTGA ccTGV human_phenotype L-transposition Ventricular inversion HP:0011540 Levotransposition of the great arteries HP:0011540 Congenitally corrected transposition of the great arteries (ccTGA) is a discordance of atrioventricular (AV) and ventriculoarterial connections. The anatomy of ccTGA involves systemic venous drainage to the morphologic right atrium (mRA), which is connected via the mitral valve to the morphologic left ventricle (mLV) whose outflow is the pulmonary arterial system. The pulmonary venous drainage arrives at the morphologic left atrium (mLA), which crosses the tricuspid valve into the morphologic right ventricle (mRV) with outflow into the systemic arterial system. In isolation, ccTGA has an in-series circulation without mixing; therefore, the presence or absence of associated defects dictates the patient's clinical presentation. HPO_CONTRIBUTOR:DDD_dbrown PMID:21569592 PMID:27777298 PMID:32274202 L-TGA cTGA cTGV ccTGA ccTGV Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. 2012-04-07T10:51:57Z UMLS:C4023310 human_phenotype HP:0011541 Criss-cross atrioventricular valves HP:0011541 Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. 2012-04-07T10:55:06Z UMLS:C4023309 human_phenotype HP:0011542 Criss-cross atrioventricular valves with superior-inferior ventricles HP:0011542 Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side. PMID:11789809 2012-04-07T10:56:21Z Fyler:0184 Fyler:184 UMLS:C4023308 human_phenotype HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves HP:0011543 2012-04-07T11:20:04Z UMLS:C4023307 human_phenotype HP:0011544 L-looping of the right ventricle HP:0011544 A deviance in the normal connections between two cardiac segments. 2012-04-07T11:24:25Z UMLS:C4023306 Abnormal connexion of the cardiac segments Discordant connection of the cardiac segments human_phenotype HP:0011545 Abnormal connection of the cardiac segments HP:0011545 A deviance in the normal connections between two cardiac segments. PMID:24876921 Abnormal connexion of the cardiac segments An abnormality of the circulatory connection between atria and ventricles. 2012-04-07T11:27:57Z SNOMEDCT_US:253274005 UMLS:C0344612 Abnormal atrioventricular connexion human_phenotype HP:0011546 Abnormal atrioventricular connection HP:0011546 An abnormality of the circulatory connection between atria and ventricles. HPO_CONTRIBUTOR:DDD_dbrown Abnormal atrioventricular connexion A defect where there is no connection between the left atrium and left ventricle. 2012-04-07T11:30:16Z SNOMEDCT_US:253290005 UMLS:C0344629 Absent left sided atrioventricular connexion human_phenotype HP:0011547 Absent left sided atrioventricular connection HP:0011547 A defect where there is no connection between the left atrium and left ventricle. PMID:7104116 Absent left sided atrioventricular connexion A defect where there is no connection between the right atrium and right ventricle. 2012-04-07T11:30:44Z SNOMEDCT_US:253285007 UMLS:C0344624 Absent right sided atrioventricular connexion human_phenotype HP:0011548 Absent right sided atrioventricular connection HP:0011548 A defect where there is no connection between the right atrium and right ventricle. PMID:7104116 Absent right sided atrioventricular connexion 2012-04-07T11:31:18Z UMLS:C4023305 Univentricular heart with absent left sided atrioventricular connexion human_phenotype HP:0011549 Univentricular heart with absent left sided atrioventricular connection HP:0011549 Univentricular heart with absent left sided atrioventricular connexion 2012-04-07T11:32:09Z UMLS:C4023304 human_phenotype HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection HP:0011550 2012-04-07T11:32:53Z UMLS:C4023303 Right sided atrium to left ventricle and absent left sided atrioventricular connexion human_phenotype HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connexion With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). 2012-04-07T11:33:24Z SNOMEDCT_US:253278008 UMLS:C0344617 Ambiguous atrioventricular connexion human_phenotype HP:0011552 Ambiguous atrioventricular connection HP:0011552 With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle). HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Ambiguous atrioventricular connexion Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. 2012-04-07T11:47:06Z SNOMEDCT_US:253277003 UMLS:C0344615 Discordant atrioventricular connexion human_phenotype HP:0011553 Discordant atrioventricular connection HP:0011553 Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. HPO_CONTRIBUTOR:DDD_dbrown PMID:23804932 https://orcid.org/0000-0002-0736-9199 Discordant atrioventricular connexion The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. 2012-04-07T11:49:32Z EPCC:01.01.14 ICD-10:Q20.4 UMLS:C4023302 Double inlet atrioventricular connexion human_phenotype HP:0011554 Double inlet atrioventricular connection HP:0011554 The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Double inlet atrioventricular connexion The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. 2012-04-07T11:53:33Z EPCC:01.04.04 ICD-10:Q20.4 SNOMEDCT_US:253283000 UMLS:C0344622 human_phenotype HP:0011555 Double inlet left ventricle HP:0011555 The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. 2012-04-07T11:57:14Z EPCC:01.04.03 ICD-10:Q20.4 SNOMEDCT_US:253282005 UMLS:C0344621 human_phenotype HP:0011556 Double inlet right ventricle HP:0011556 The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. 2012-04-07T12:00:21Z UMLS:C4023301 human_phenotype HP:0011557 Double inlet to single ventricle of indeterminate morphology HP:0011557 The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 2012-04-07T12:02:03Z UMLS:C4023300 human_phenotype HP:0011558 Double inlet to single ventricle with common atrioventricular orifice HP:0011558 2012-04-07T12:02:15Z UMLS:C4023299 human_phenotype HP:0011559 Double inlet to single ventricle with two atrioventricular valves HP:0011559 A congenital defect with failure to open of the mitral valve orifice. 2012-04-07T12:04:11Z EPCC:06.02.01 Fyler:0310 Fyler:310 ICD-10:Q23.2 SNOMEDCT_US:23063005 UMLS:C0344760 Mitral valve atresia human_phenotype HP:0011560 Mitral atresia HP:0011560 A congenital defect with failure to open of the mitral valve orifice. HPO_CONTRIBUTOR:DDD_dbrown An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. 2012-04-07T12:09:28Z UMLS:C4023298 human_phenotype HP:0011561 Straddling and overriding atrioventricular valves usually occur in combination. Overriding atrioventricular valve HP:0011561 An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect. HPO_CONTRIBUTOR:DDD_dbrown PMID:7295418 https://orcid.org/0000-0002-0736-9199 Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. 2012-04-07T12:13:57Z UMLS:C4023297 human_phenotype HP:0011562 Straddling and overriding atrioventricular valves usually occur in combination. Straddling atrioventricular valve HP:0011562 Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect. HPO_CONTRIBUTOR:DDD_dbrown PMID:7295418 https://orcid.org/0000-0002-0736-9199 An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. 2012-04-08T07:32:38Z UMLS:C4023296 Abnormal ventriculo-arterial connection Abnormal ventriculoarterial connexion human_phenotype HP:0011563 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. Abnormal ventriculoarterial connection HP:0011563 An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. PMID:15227248 PMID:18805185 PMID:24750982 Abnormal ventriculoarterial connexion Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. 2012-04-08T10:03:28Z UMLS:C4021143 Hammock mitral valve human_phenotype HP:0011564 Mitral valve arcade HP:0011564 Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle. HPO_CONTRIBUTOR:DDD_dbrown PMID:20404264 Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. 2012-04-08T07:50:05Z Fyler:1140 ICD-10:Q21.2 SNOMEDCT_US:253276007 UMLS:C0392482 Single atrium human_phenotype HP:0011565 Common atrium HP:0011565 Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Single atrium https://orcid.org/0000-0001-6908-9849 A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. 2012-04-08T08:02:56Z Fyler:2854 SNOMEDCT_US:274947007 UMLS:C0344697 Cor triatriatum dextrum human_phenotype HP:0011566 Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. Cor triatriatum dexter HP:0011566 A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue. HPO_CONTRIBUTOR:DDD_dbrown PMID:17948095 https://orcid.org/0000-0002-0736-9199 Cor triatriatum dextrum https://orcid.org/0000-0001-5208-3432 An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. 2012-04-08T08:15:24Z Fyler:2010 ICD-10:Q21.1 SNOMEDCT_US:95268002 UMLS:C0344730 human_phenotype HP:0011567 Sinus venosus atrial septal defect HP:0011567 An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting. HPO_CONTRIBUTOR:DDD_dbrown PMID:16172274 https://orcid.org/0000-0002-0736-9199 The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. 2012-04-08T08:29:48Z SNOMEDCT_US:253402005 UMLS:C0344770 human_phenotype HP:0011568 In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. Double orifice mitral valve HP:0011568 The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue. HPO_CONTRIBUTOR:DDD_dbrown PMID:20851840 https://orcid.org/0000-0002-0736-9199 Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. 2012-04-08T08:40:46Z UMLS:C4023295 human_phenotype HP:0011569 Cleft anterior mitral valve leaflet HP:0011569 Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect. HPO_CONTRIBUTOR:DDD_dbrown PMID:6829465 Mitral stenosis with congenital onset. 2012-04-08T08:46:46Z SNOMEDCT_US:82458004 UMLS:C0158618 human_phenotype HP:0011570 Congenital mitral stenosis HP:0011570 Mitral stenosis with congenital onset. HPO_CONTRIBUTOR:DDD_dbrown Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. 2012-04-08T08:47:46Z SNOMEDCT_US:204362007 UMLS:C0546965 human_phenotype HP:0011571 Parachute mitral valve HP:0011571 Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. HPO_CONTRIBUTOR:DDD_dbrown A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. 2012-04-08T08:49:07Z UMLS:C4021142 Membranous supravalvular mitral stenosis Supravalvular mitral ring human_phenotype HP:0011572 Supramitral ring HP:0011572 A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve. HPO_CONTRIBUTOR:DDD_dbrown Congenital defect characterized by underdevelopment of the tricuspid valve. 2012-04-08T10:22:38Z Fyler:1720 UMLS:C4023294 Tricuspid valve hypoplasia Underdeveloped tricuspid valve human_phenotype HP:0011573 Hypoplastic tricuspid valve HP:0011573 Congenital defect characterized by underdevelopment of the tricuspid valve. HPO_CONTRIBUTOR:DDD_dbrown Underdeveloped tricuspid valve https://orcid.org/0000-0001-6908-9849 An atrioventricular valve that has failed to open (atretic). 2012-04-08T10:35:25Z UMLS:C4023293 Unopened atrioventricular valve human_phenotype HP:0011574 Imperforate atrioventricular valve HP:0011574 An atrioventricular valve that has failed to open (atretic). HPO_CONTRIBUTOR:DDD_dbrown Unopened atrioventricular valve https://orcid.org/0000-0001-6908-9849 A tricuspid valve that has failed to open. 2012-04-08T10:37:55Z UMLS:C4023292 Unopened tricuspid valve human_phenotype HP:0011575 Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography. Imperforate tricuspid valve HP:0011575 A tricuspid valve that has failed to open. HPO_CONTRIBUTOR:DDD_dbrown PMID:7066117 Unopened tricuspid valve https://orcid.org/0000-0001-6908-9849 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. 2012-04-08T10:56:04Z Fyler:1121 UMLS:C4023291 Intermediate atrioventricular septal defect human_phenotype HP:0011576 Intermediate atrioventricular canal defect HP:0011576 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices. HPO_CONTRIBUTOR:DDD_dbrown A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. 2012-04-08T10:57:14Z SNOMEDCT_US:718216009 UMLS:C4023290 Incomplete AVSD Incomplete atrioventricular septal defect PAVSD Partial AVC defect Partial AVSD Partial atrioventricular septal defect human_phenotype HP:0011577 Partial atrioventricular canal defect HP:0011577 A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. HPO_CONTRIBUTOR:DDD_dbrown Incomplete AVSD PAVSD Partial AVC defect Partial AVSD A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. 2012-04-08T10:58:47Z UMLS:C4023289 human_phenotype HP:0011578 Transitional atrioventricular canal defect HP:0011578 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices. HPO_CONTRIBUTOR:DDD_dbrown Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). 2012-04-08T11:02:44Z UMLS:C3280940 AVC defect unbalanced AVC unbalanced Unbalanced AVC Unbalanced AVC defect Unbalanced AVSD Unbalanced atrioventricular septal defect human_phenotype HP:0011579 Unbalanced atrioventricular canal defect HP:0011579 Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). HPO_CONTRIBUTOR:DDD_dbrown PMID:20837915 AVC defect unbalanced AVC unbalanced Unbalanced AVC Unbalanced AVC defect Unbalanced AVSD Abnormally short chordae tendineae of the mitral valve. 2012-04-08T12:01:44Z UMLS:C4023288 human_phenotype HP:0011580 The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. Short chordae tendineae of the mitral valve HP:0011580 Abnormally short chordae tendineae of the mitral valve. https://orcid.org/0000-0002-0736-9199 A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. 2012-04-08T12:37:48Z Fyler:0650 Fyler:650 ICD-10:Q20.2 SNOMEDCT_US:7368005 UMLS:C0265809 human_phenotype HP:0011581 Double outlet left ventricle HP:0011581 A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. https://orcid.org/0000-0002-0736-9199 Displacement of the heart outside the thoracic cavity and into the abdomen. 2012-04-08T01:10:32Z UMLS:C4023287 human_phenotype HP:0011582 Abdominal ectopia cordis HP:0011582 Displacement of the heart outside the thoracic cavity and into the abdomen. HPO_CONTRIBUTOR:DDD_dbrown A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. 2012-04-08T01:11:40Z UMLS:C4023286 human_phenotype HP:0011583 This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. Cervical ectopia cordis HP:0011583 A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. 2012-04-08T01:12:42Z UMLS:C4023285 human_phenotype HP:0011584 Thoracocervical ectopia cordis HP:0011584 A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. 2012-04-08T01:13:18Z UMLS:C4023284 human_phenotype HP:0011585 Thoracic ectopia cordis HP:0011585 Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. 2012-04-08T01:13:52Z UMLS:C4023283 human_phenotype HP:0011586 In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. Thoracoabdominal ectopia cordis HP:0011586 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity. HPO_CONTRIBUTOR:DDD_dbrown PMID:19479716 https://orcid.org/0000-0002-0736-9199 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. 2012-04-08T01:34:42Z UMLS:C4023282 human_phenotype HP:0011587 The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and esophagus by vascular structures is a vascular ring. Abnormal branching pattern of the aortic arch HP:0011587 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries. HPO_CONTRIBUTOR:DDD_dbrown The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. 2012-04-08T01:37:51Z SNOMEDCT_US:253657003 UMLS:C0345065 human_phenotype HP:0011588 Cervical aortic arch HP:0011588 The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta. HPO_CONTRIBUTOR:DDD_dbrown The left common carotid artery has a common origin with the innominate artery. 2012-04-08T01:38:36Z SNOMEDCT_US:460890003 UMLS:C3532020 UMLS:C4020746 UMLS:C4021141 Common brachiocephalic trunk human_phenotype Bovine arch Ovine arch HP:0011589 Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. Common origin of the right brachiocephalic artery and left common carotid artery HP:0011589 The left common carotid artery has a common origin with the innominate artery. HPO_CONTRIBUTOR:DDD_dbrown PMID:17138027 https://orcid.org/0000-0002-0736-9199 A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). 2012-04-08T01:46:10Z Fyler:2761 SNOMEDCT_US:10451007 UMLS:C0265883 human_phenotype HP:0011590 Double aortic arch HP:0011590 A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). HPO_CONTRIBUTOR:DDD_dbrown PMID:15148283 PMID:15564538 https://orcid.org/0000-0002-0736-9199 2012-04-08T01:57:40Z UMLS:C4023281 human_phenotype HP:0011591 Left aortic arch with cervical origin of the right subclavian artery HP:0011591 The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. 2012-04-08T02:01:39Z UMLS:C4023280 human_phenotype HP:0011592 Left aortic arch with isolated subclavian artery HP:0011592 The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis. HPO_CONTRIBUTOR:DDD_dbrown A patent ductus arteriosus or ductal ligament completes the ring. 2012-04-08T02:02:42Z SNOMEDCT_US:74561007 UMLS:C0265885 Kommerell diverticulum human_phenotype HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell HP:0011593 A patent ductus arteriosus or ductal ligament completes the ring. HPO_CONTRIBUTOR:DDD_dbrown Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. 2012-04-08T02:07:10Z UMLS:C4023279 human_phenotype HP:0011594 Right aortic arch with retroesophageal diverticulum of Kommerell HP:0011594 Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch. HPO_CONTRIBUTOR:DDD_dbrown PMID:12075866 Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. 2012-04-08T02:09:39Z UMLS:C4023278 human_phenotype HP:0011595 Left aortic arch with retroesophageal right subclavian artery HP:0011595 Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. HPO_CONTRIBUTOR:DDD_dbrown The ring may be completed by the ductal ligament. 2012-04-08T02:10:48Z UMLS:C4023277 human_phenotype HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus HP:0011596 The ring may be completed by the ductal ligament. HPO_CONTRIBUTOR:DDD_dbrown 2012-04-08T02:23:47Z UMLS:C4023276 human_phenotype HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus HP:0011597 2012-04-08T02:27:16Z UMLS:C4021140 Right aortic arch with aberrant left subclavian artery Right aortic arch with anomalous left subclavian artery human_phenotype HP:0011598 Right aortic arch with retroesophageal left subclavian artery HP:0011598 Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. 2012-04-08T02:41:36Z Fyler:0140 Fyler:140 SNOMEDCT_US:16567006 UMLS:C0265865 human_phenotype HP:0011599 Mesocardia HP:0011599 Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. 2012-04-08T02:44:41Z UMLS:C4023275 human_phenotype HP:0011600 Abnormal direction of ventricular apex HP:0011600 Abnormal plane of direction of the heart from the base to the apex. Left sided is normal. HPO_CONTRIBUTOR:DDD_dbrown Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. 2012-04-08T02:46:32Z UMLS:C4023274 human_phenotype HP:0011601 Rightward direction of ventricular apex HP:0011601 Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal. HPO_CONTRIBUTOR:DDD_dbrown Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. 2012-04-08T02:47:52Z UMLS:C4023273 human_phenotype HP:0011602 Midline direction of ventricular apex HP:0011602 Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal. HPO_CONTRIBUTOR:DDD_dbrown Defect or defects of the morphogenesis of the aorta and pulmonary arteries. 2012-04-08T02:51:09Z UMLS:C0478012 human_phenotype HP:0011603 Congenital malformation of the great arteries HP:0011603 A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. 2012-04-08T02:52:38Z Fyler:0560 Fyler:560 SNOMEDCT_US:17024001 UMLS:C0003516 human_phenotype HP:0011604 Aortopulmonary window HP:0011604 A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 HP:0011540 2012-04-08T02:55:06Z human_phenotype HP:0011605 obsolete Congenitally corrected transposition of the great arteries with ventricular septal defect true HP:0011605 HP:0001669 human_phenotype HP:0011606 obsolete Transposition of the great arteries with intact ventricular septum true HP:0011606 HP:0001669 human_phenotype HP:0011607 obsolete Transposition of the great arteries with ventricular septal defect true HP:0011607 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. 2012-04-08T03:03:51Z Fyler:0520 Fyler:520 UMLS:C4021137 Persistent truncus arteriosus type II Type 2 truncus arteriosus human_phenotype HP:0011608 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. Type II truncus arteriosus HP:0011608 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. 2012-04-08T03:08:53Z Fyler:0530 Fyler:530 UMLS:C4021136 Persistent truncus arteriosus type III Type 3 truncus arteriosus human_phenotype HP:0011609 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. Type III truncus arteriosus HP:0011609 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. 2012-04-08T03:11:07Z Fyler:0540 Fyler:540 UMLS:C4021135 Persistent truncus arteriosus type IV Type 4 truncus arteriosus human_phenotype HP:0011610 According to the Van Praagh classification (PMID:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. Type IV truncus arteriosus HP:0011610 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Non-continuity of the arch of aorta with an atretic point or absent segment. 2012-04-08T03:17:10Z HP:0006680 Fyler:1241 Fyler:1250 SNOMEDCT_US:218728005 UMLS:C0152419 Atretic transverse aortic arch human_phenotype Aortic arch obstruction HP:0011611 Interrupted aortic arch HP:0011611 Non-continuity of the arch of aorta with an atretic point or absent segment. HPO_CONTRIBUTOR:DDD_dbrown Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. 2012-04-08T03:18:18Z SNOMEDCT_US:253681005 UMLS:C0345092 human_phenotype HP:0011612 Interrupted aortic arch type A HP:0011612 Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus. HPO_CONTRIBUTOR:DDD_dbrown Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. 2012-04-08T03:18:58Z Fyler:1252 SNOMEDCT_US:253682003 UMLS:C0345093 Interrupted aortic arch, type b human_phenotype HP:0011613 Interrupted aortic arch type B HP:0011613 Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries. HPO_CONTRIBUTOR:DDD_dbrown Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. 2012-04-08T03:19:48Z SNOMEDCT_US:253683008 UMLS:C0345094 human_phenotype HP:0011614 Interrupted aortic arch type C HP:0011614 Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries. HPO_CONTRIBUTOR:DDD_dbrown An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. 2012-04-08T09:20:13Z UMLS:C4023271 Abnormality of pulmonary situs human_phenotype HP:0011615 Abnormal pulmonary situs morphology HP:0011615 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi. HPO_CONTRIBUTOR:DDD_dbrown Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. 2012-04-08T09:23:21Z UMLS:C4023270 human_phenotype HP:0011616 Pulmonary situs inversus HP:0011616 Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus. HPO_CONTRIBUTOR:DDD_dbrown An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. 2012-04-08T09:24:21Z UMLS:C4023269 human_phenotype HP:0011617 Pulmonary situs ambiguus HP:0011617 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. HPO_CONTRIBUTOR:DDD_dbrown An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. 2012-04-08T09:25:35Z UMLS:C4023268 human_phenotype HP:0011618 Pulmonary situs ambiguus with bilateral morphologic right lungs HP:0011618 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. 2012-04-08T09:26:18Z UMLS:C4023267 human_phenotype HP:0011619 Pulmonary situs ambiguus with bilateral morphologic left lungs HP:0011619 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung. HPO_CONTRIBUTOR:DDD_dbrown An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. 2012-04-08T09:30:05Z UMLS:C4023266 human_phenotype HP:0011620 Abnormality of abdominal situs HP:0011620 An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs. HPO_CONTRIBUTOR:DDD_dbrown A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. 2012-04-08T09:34:01Z SNOMEDCT_US:41893002 UMLS:C0265812 UMLS:C4023265 human_phenotype Left ventricular - right atrial communication HP:0011621 Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. Gerbode ventricular septal defect HP:0011621 A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve. HPO_CONTRIBUTOR:DDD_dbrown PMID:19561249 A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. 2012-04-08T09:38:29Z Fyler:1340 Atrioventricular canal type ventricular septal defect Type 3 ventricular septal defect human_phenotype HP:0011622 The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. Inlet ventricular septal defect HP:0011622 A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. HPO_CONTRIBUTOR:DDD_dbrown PMID:17101870 The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. 2012-04-08T09:43:15Z Fyler:1320 SNOMEDCT_US:94706008 UMLS:C0685707 Type 4 ventricular septal defect human_phenotype Ventricular septal defect, muscular HP:0011623 Muscular ventricular septal defect HP:0011623 The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. HPO_CONTRIBUTOR:DDD_dbrown PMID:17101870 Ventricular septal defect, muscular https://orcid.org/0000-0002-5316-1399 A muscular ventricular septal defect located at the apex of the heart. 2012-04-08T09:45:43Z UMLS:C4023264 human_phenotype HP:0011624 Apical muscular ventricular septal defect HP:0011624 A muscular ventricular septal defect located at the apex of the heart. HPO_CONTRIBUTOR:DDD_dbrown A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. 2012-04-08T09:49:03Z UMLS:C4023263 Swiss cheese ventricular septal defect human_phenotype HP:0011625 Multiple muscular ventricular septal defects HP:0011625 A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. PMID:22718060 Right pulmonary venous return to the inferior vena cava. 2012-04-08T09:57:11Z ICD-10:Q26.8 SNOMEDCT_US:111323005 SNOMEDCT_US:39905002 UMLS:C0036400 Pulmonary venolobar syndrome Scimitar syndrome human_phenotype HP:0011626 Scimitar anomaly HP:0011626 Right pulmonary venous return to the inferior vena cava. HPO_CONTRIBUTOR:DDD_dbrown PMID:16638549 Pulmonary venolobar syndrome https://orcid.org/0000-0001-6908-9849 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. 2012-04-09T08:29:49Z UMLS:C4023262 human_phenotype HP:0011627 Aorto-ventricular tunnel HP:0011627 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. PMID:17922908 A developmental defect of the pericardium with congenital onset. 2012-04-08T10:05:20Z UMLS:C4023261 human_phenotype HP:0011628 Congenital defect of the pericardium HP:0011628 A developmental defect of the pericardium with congenital onset. HPO_CONTRIBUTOR:DDD_dbrown No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. 2012-04-08T10:06:22Z Fyler:1910 SNOMEDCT_US:253732001 UMLS:C0345140 Absent pericardium Congenital absence of the pericardium human_phenotype HP:0011629 Total absence of the pericardium HP:0011629 No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. HPO_CONTRIBUTOR:DDD_dbrown Absent pericardium https://orcid.org/0000-0001-5208-3432 Congenital absence of the pericardium https://orcid.org/0000-0001-6908-9849 No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. 2012-04-08T10:06:57Z UMLS:C4023259 human_phenotype HP:0011630 Complete diaphragmatic absence of pericardium HP:0011630 No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. HPO_CONTRIBUTOR:DDD_dbrown No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. 2012-04-08T10:08:42Z UMLS:C4023258 human_phenotype HP:0011631 Complete right sided absence of pericardium HP:0011631 No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy. HPO_CONTRIBUTOR:DDD_dbrown A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. 2012-04-08T10:09:24Z UMLS:C4023257 human_phenotype HP:0011632 A congenital anomaly and not the result of a pericardectomy. Partial right sided absence of pericardium HP:0011632 A congenital anomaly with lack of part of the pericardium on the righthand side of the heart. HPO_CONTRIBUTOR:DDD_dbrown A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. 2012-04-08T10:11:03Z UMLS:C4023256 Absent lining around of left side of heart human_phenotype HP:0011633 A congenital anomaly and not the result of a pericardectomy. Complete left sided absence of pericardium HP:0011633 A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart. HPO_CONTRIBUTOR:DDD_dbrown Absent lining around of left side of heart https://orcid.org/0000-0001-5208-3432 A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. 2012-04-08T10:11:59Z UMLS:C4023255 human_phenotype HP:0011634 A congenital anomaly and not the result of a pericardectomy. Partial left sided absence of pericardium HP:0011634 A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart. HPO_CONTRIBUTOR:DDD_dbrown Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. 2012-04-08T10:13:04Z UMLS:C4023254 human_phenotype HP:0011635 Partial diaphragmatic absence of pericardium HP:0011635 Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart. HPO_CONTRIBUTOR:DDD_dbrown Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. 2012-04-09T08:32:24Z UMLS:C4023253 human_phenotype HP:0011636 Abnormal coronary artery origin HP:0011636 Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. HPO_CONTRIBUTOR:DDD_dbrown A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. 2012-04-09T08:33:57Z UMLS:C4023252 human_phenotype HP:0011637 Anomalous origin of coronary artery from the pulmonary artery HP:0011637 A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. 2012-04-09T08:40:53Z Fyler:3101 SNOMEDCT_US:450301003 UMLS:C3472166 ALCAPA Anomalous left coronary artery from the pulmonary artery Bland-Garland-White syndrome human_phenotype HP:0011638 In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins. Anomalous origin of left coronary artery from the pulmonary artery HP:0011638 Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. HPO_CONTRIBUTOR:DDD_dbrown PMID:27358682 https://orcid.org/0000-0002-0736-9199 ALCAPA Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. 2012-04-09T08:41:05Z SNOMEDCT_US:450300002 UMLS:C3472165 human_phenotype HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery HP:0011639 Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 The presence of a single coronary artery ostium from which both coronary arteries arise. 2012-04-09T08:44:38Z UMLS:C4023251 human_phenotype HP:0011640 Single coronary artery origin HP:0011640 The presence of a single coronary artery ostium from which both coronary arteries arise. HPO_CONTRIBUTOR:DDD_dbrown PMID:4547578 https://orcid.org/0000-0002-0736-9199 A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. 2012-04-09T08:54:51Z Fyler:2230 SNOMEDCT_US:373093003 UMLS:C0265898 Coronary fistula human_phenotype HP:0011641 Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. Coronary artery fistula HP:0011641 A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel. HPO_CONTRIBUTOR:DDD_dbrown PMID:20513726 https://orcid.org/0000-0002-0736-9199 Coronary fistula https://orcid.org/0000-0001-5208-3432 An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. 2012-04-09T09:02:09Z Fyler:2840 SNOMEDCT_US:253323000 UMLS:C0344680 Abnormality of the coronary sinus human_phenotype HP:0011642 Abnormal coronary sinus morphology HP:0011642 An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. There is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. 2012-04-09T09:07:42Z HP:0031297 ICD-10:Q21.1 UMLS:C2063331 Unroofed coronary sinus human_phenotype HP:0011643 Coronary sinus atrial septal defect is the rarest type of ASD and is the result of a partially or completely unroofed coronary sinus. Blood from the left atrium enters in the coronary sinus, through a route independent of the atrial septum, and then drains into the right atrium. A persistent left superior caval vein draining into the coronary sinus is usually present. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion. Coronary sinus atrial septal defect HP:0011643 An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus. There is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. HPO_CONTRIBUTOR:DDD_dbrown PMID:18806021 PMID:19398672 PMID:40843896 https://orcid.org/0000-0002-0736-9199 A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. 2012-04-09T09:12:28Z SNOMEDCT_US:447661004 UMLS:C3163894 Diverticulum of the coronary sinus human_phenotype HP:0011644 Coronary sinus diverticulum HP:0011644 A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus. HPO_CONTRIBUTOR:DDD_dbrown PMID:3138904 Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. 2012-04-09T09:31:57Z Fyler:2316 SNOMEDCT_US:54160000 UMLS:C2239253 Aortic sinus aneurysm Aneurysm of the aortic sinus Sinus of Valsalva aneurysm human_phenotype HP:0011645 Aneurysm is considered a severe form of dilatation. Dilatation of the sinus of Valsalva HP:0011645 Aneurysm of the aortic sinus https://orcid.org/0000-0001-6908-9849 Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. 2012-04-09T09:41:05Z UMLS:C4023250 human_phenotype HP:0011646 Juxtaductal coarctation usually presents when the ductus arteriosus closes. Juxtaductal coarctation of the aorta HP:0011646 Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. 2012-04-09T09:49:36Z SNOMEDCT_US:72242008 UMLS:C0265879 Postductal aortic coarctation human_phenotype HP:0011647 Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. Postductal coarctation of the aorta HP:0011647 Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch. HPO_CONTRIBUTOR:DDD_dbrown Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. 2012-04-09T09:58:35Z UMLS:C4023249 human_phenotype HP:0011648 Patent ductus arteriosus after birth at term HP:0011648 Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. HPO_CONTRIBUTOR:DDD_dbrown Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. 2012-04-09T09:59:59Z UMLS:C4023248 human_phenotype HP:0011649 Patent ductus arteriosus after premature birth HP:0011649 Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. HPO_CONTRIBUTOR:DDD_dbrown The presence of both a left and a right ductus arteriosus. 2012-04-09T10:00:51Z SNOMEDCT_US:461093009 UMLS:C0431501 Bilateral ductus botalli human_phenotype HP:0011650 Bilateral ductus arteriosus HP:0011650 The presence of both a left and a right ductus arteriosus. HPO_CONTRIBUTOR:DDD_dbrown Bilateral ductus botalli https://orcid.org/0000-0001-6908-9849 A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:02:22Z SNOMEDCT_US:448516008 UMLS:C3165091 DORV with doubly committed VSD and pulmonary stenosis human_phenotype HP:0011651 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis HP:0011651 A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 DORV with doubly committed VSD and pulmonary stenosis PMID:6193702 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:05:46Z Fyler:0604 Fyler:604 UMLS:C4023247 DORV with doubly committed VSD Double outlet right ventricle, doubly committed ventricular septal defect human_phenotype HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis HP:0011652 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 DORV with doubly committed VSD PMID:10798433 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:06:15Z UMLS:C4023246 DORV with non-committed VSD and pulmonary stenosis human_phenotype HP:0011653 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis HP:0011653 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:10431853 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:06:32Z Fyler:0603 Fyler:603 UMLS:C4023245 DORV with non-committed VSD without pulmonary stenosis Double outlet right ventricle, noncommitted ventricular septal defect human_phenotype HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis HP:0011654 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:10431853 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:06:46Z UMLS:C4023244 DORV with subaortic VSD and pulmonary stenosis human_phenotype HP:0011655 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis HP:0011655 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:07:00Z UMLS:C4023243 DORV with subaortic VSD without pulmonary stenosis human_phenotype HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis HP:0011656 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:07:16Z UMLS:C4023242 DORV with subpulmonary VSD and pulmonary stenosis human_phenotype HP:0011657 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis HP:0011657 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:6193702 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. 2012-04-09T10:07:31Z UMLS:C4023241 DORV with subpulmonary VSD without pulmonary stenosis Taussig-Bing anomaly human_phenotype HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis HP:0011658 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. PMID:20069085 PMID:6193702 DORV with subpulmonary VSD without pulmonary stenosis Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. 2012-04-09T10:15:04Z SNOMEDCT_US:399228007 UMLS:C1302264 Tetralogy of Fallot with absent pulmonary valve syndrome human_phenotype HP:0011659 Tetralogy of Fallot with absent pulmonary valve HP:0011659 Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue. HPO_CONTRIBUTOR:DDD_dbrown Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. 2012-04-09T10:34:29Z Fyler:0550 Fyler:550 UMLS:C4021134 Hemitruncus human_phenotype HP:0011660 Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. Anomalous origin of one pulmonary artery from ascending aorta HP:0011660 Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. HPO_CONTRIBUTOR:DDD_dbrown PMID:2590592 The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. 2012-04-09T10:42:23Z SNOMEDCT_US:253637002 UMLS:C0345040 human_phenotype HP:0011661 Anomalous origin of left pulmonary artery from ascending aorta HP:0011661 The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery. HPO_CONTRIBUTOR:DDD_dbrown Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. 2012-04-09T10:45:29Z EPCC:06.01.01 Fyler:0400 Fyler:400 ICD-10:Q22.4 SNOMEDCT_US:253455004 SNOMEDCT_US:63042009 UMLS:C0243002 Tricuspid valve atresia human_phenotype HP:0011662 Tricuspid atresia HP:0011662 Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Tricuspid valve atresia https://orcid.org/0000-0001-5208-3432 Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. 2012-04-09T11:14:59Z UMLS:C2063326 Cardiomyopathy, right ventricular human_phenotype Cardiomyopathy, esp. right ventricular HP:0011663 This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. Right ventricular cardiomyopathy HP:0011663 Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. PMID:17916581 https://orcid.org/0000-0002-0736-9199 Cardiomyopathy, right ventricular https://orcid.org/0000-0002-5316-1399 Cardiomyopathy, esp. right ventricular https://orcid.org/0000-0002-5316-1399 Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. 2012-04-09T11:31:40Z UMLS:C4021133 Left ventricular non-compaction cardiomyopathy human_phenotype HP:0011664 Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. Left ventricular noncompaction cardiomyopathy HP:0011664 Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. PMID:17916581 Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. 2012-04-09T11:39:40Z SNOMEDCT_US:441541008 UMLS:C1739395 Broken-heart syndrome human_phenotype HP:0011665 Takotsubo cardiomyopathy HP:0011665 Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. PMID:17916581 Broken-heart syndrome https://orcid.org/0000-0001-6908-9849 Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. 2012-04-09T11:43:46Z SNOMEDCT_US:253308005 UMLS:C0344656 human_phenotype HP:0011666 The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. Absent right superior vena cava HP:0011666 Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium. HPO_CONTRIBUTOR:DDD_dbrown PMID:17578953 PMID:19808620 PMID:20532458 2012-04-09T12:00:46Z UMLS:C4023240 human_phenotype HP:0011667 Bilateral superior vena cava with bridging vein HP:0011667 2012-04-09T12:01:33Z UMLS:C4023239 human_phenotype HP:0011668 Bilateral superior vena cava with no bridging vein HP:0011668 A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. 2012-04-09T12:02:06Z UMLS:C4023238 human_phenotype HP:0011669 Left superior vena cava draining directly to the left atrium HP:0011669 A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. PMID:18847480 A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. 2012-04-09T12:02:58Z ICD-10:Q26.1 UMLS:C2677768 human_phenotype HP:0011670 Left superior vena cava draining to coronary sinus HP:0011670 A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. PMID:18847480 Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. 2012-04-09T12:04:06Z ICD-10:26.8 UMLS:C4023237 human_phenotype HP:0011671 Interrupted inferior vena cava with azygous continuation HP:0011671 Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. HPO_CONTRIBUTOR:DDD_dbrown PMID:10550884 A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber. 2012-04-09T12:10:35Z NCIT:C6577 SNOMEDCT_US:426191007 UMLS:C1960546 human_phenotype HP:0011672 Cardiac myxoma HP:0011672 A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber. PMID:7477198 https://orcid.org/0000-0002-0736-9199 Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. 2012-04-09T12:20:13Z NCIT:C3085 UMLS:C1707298 human_phenotype HP:0011673 Cardiac hemangioma HP:0011673 Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium. HPO_CONTRIBUTOR:DDD_dbrown A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. 2012-04-09T12:33:29Z NCIT:C3403 UMLS:C1112387 human_phenotype HP:0011674 Cardiac teratoma HP:0011674 A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone. PMID:17331235 https://orcid.org/0000-0002-0736-9199 Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. 2012-04-09T12:47:32Z HP:0001656 HP:0001661 HP:0001665 HP:0001666 HP:0001675 HP:0001687 HP:0001721 HP:0004351 HP:0005158 SNOMEDCT_US:102594003 SNOMEDCT_US:44808001 SNOMEDCT_US:698247007 UMLS:C0003811 UMLS:C0264886 UMLS:C0522055 UMLS:C0855329 UMLS:C1832603 UMLS:C1842820 Abnormal heart rate Arrhythmias Cardiac arrhythmia Cardiac arrhythmias Cardiac rhythm disturbances Heart rhythm disorders Irregular heart beat Irregular heartbeat human_phenotype HP:0011675 Arrhythmia HP:0011675 Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. HPO_CONTRIBUTOR:DDD_dbrown PMID:19063792 Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat 2012-04-10T07:40:33Z UMLS:C4023236 human_phenotype HP:0011676 Tetralogy of Fallot with absent subarterial conus HP:0011676 2012-04-10T07:41:53Z UMLS:C4023235 human_phenotype HP:0011677 Tetralogy of Fallot with atrioventricular canal defect HP:0011677 A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). 2012-04-10T07:43:01Z UMLS:C4023234 human_phenotype HP:0011678 Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries HP:0011678 A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA). PMID:22368654 https://orcid.org/0000-0002-0736-9199 The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. 2012-04-10T07:44:06Z SNOMEDCT_US:253512000 UMLS:C0344881 human_phenotype HP:0011679 Tetralogy of Fallot with pulmonary stenosis HP:0011679 The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus. https://orcid.org/0000-0002-0736-9199 2012-04-10T08:02:28Z UMLS:C4023233 human_phenotype HP:0011680 Single ventricle of indeterminate morphology HP:0011680 A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. 2012-04-10T08:09:32Z Fyler:1330 SNOMEDCT_US:448876006 UMLS:C3165130 Conal ventricular septal defect Doubly committed ventricular septal defect Infundibular ventricular septal defect Supracristal ventricular septal defect Type 1 ventricular septal defect human_phenotype HP:0011681 Subarterial ventricular septal defect HP:0011681 A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. HPO_CONTRIBUTOR:DDD_dbrown PMID:10798413 A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. 2012-04-10T08:21:13Z Fyler:1310 SNOMEDCT_US:109428005 UMLS:C0344925 Conoventricular ventricular septal defect Membranous ventricular septal defect Paramembranous ventricular septal defect Perimembraneous ventricular septal defect Type 2 ventricular septal defect human_phenotype Ventricular septal defect, perimembranous HP:0011682 Perimembranous ventricular septal defect HP:0011682 A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. HPO_CONTRIBUTOR:DDD_dbrown PMID:10798413 Perimembraneous ventricular septal defect https://orcid.org/0000-0001-5208-3432 Ventricular septal defect, perimembranous https://orcid.org/0000-0002-5316-1399 Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. 2012-04-10T08:26:59Z SNOMEDCT_US:253551005 UMLS:C0344924 human_phenotype HP:0011683 This term can be used in addition to another term describing the morphology of a VSD. Restrictive ventricular septal defect HP:0011683 Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD. HPO_CONTRIBUTOR:DDD_dbrown PMID:10798413 Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. 2012-04-10T08:29:05Z SNOMEDCT_US:373131000 UMLS:C1298817 human_phenotype HP:0011684 This term can be used in addition to another term describing the morphology of a VSD. Non-restrictive ventricular septal defect HP:0011684 Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD. HPO_CONTRIBUTOR:DDD_dbrown The superior vena cava passes below the aortic arch. 2012-04-10T08:36:00Z UMLS:C4023232 human_phenotype HP:0011685 The superior vena cava normally crosses superior and anterior to the aorta. Infra-aortic superior vena cava HP:0011685 The superior vena cava passes below the aortic arch. HPO_CONTRIBUTOR:DDD_dbrown An abnormal path of a coronary artery. 2012-04-10T08:37:35Z SNOMEDCT_US:253714001 UMLS:C0345122 human_phenotype Anomalous coronary artery course HP:0011686 Abnormal coronary artery course HP:0011686 An abnormal path of a coronary artery. HPO_CONTRIBUTOR:DDD_dbrown A type of supraventricular tachycardia that originates in the atrioventricular node. 2012-04-10T08:45:26Z UMLS:C0857265 AV nodal tachycardia Atrioventricular nodal tachycardia human_phenotype HP:0011687 AV nodal tachycardia HP:0011687 A type of supraventricular tachycardia that originates in the atrioventricular node. HPO_CONTRIBUTOR:DDD_dbrown PMID:20733110 AV nodal tachycardia Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. 2012-04-10T10:33:56Z UMLS:C4021132 Atrioventricular re-entry tachycardia Supraventricular tachycardia with an accessory connexion mediated pathway human_phenotype HP:0011688 Supraventricular tachycardia with an accessory connection mediated pathway HP:0011688 Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. PMID:22459483 Supraventricular tachycardia with an accessory connexion mediated pathway Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm. 2012-04-10T10:35:31Z UMLS:C4023231 Supraventricular tachycardia with a concealed accessory connexion human_phenotype HP:0011689 Supraventricular tachycardia with a concealed accessory connection HP:0011689 Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm. PMID:22459483 Supraventricular tachycardia with a concealed accessory connexion An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. 2012-04-10T10:36:06Z SNOMEDCT_US:233904005 UMLS:C0340483 human_phenotype HP:0011690 Permanent junctional reciprocating tachycardia HP:0011690 An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction. PMID:15831598 2012-04-10T10:36:49Z UMLS:C4023230 human_phenotype HP:0011691 Supraventricular tachycardia with a concealed accessory pathway on the left free wall HP:0011691 2012-04-10T10:37:37Z UMLS:C4023229 human_phenotype HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the right free wall HP:0011692 2012-04-10T10:38:07Z UMLS:C4023228 human_phenotype HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septum HP:0011693 2012-04-10T10:38:53Z UMLS:C4023227 human_phenotype HP:0011694 Supraventricular tachycardia with a manifest accessory pathway HP:0011694 Hemorrhage into the parenchyma of the cerebellum. 2012-04-10T10:46:25Z SNOMEDCT_US:75038005 UMLS:C0149854 Cerebellar haemorrhage human_phenotype HP:0011695 Cerebellar hemorrhage HP:0011695 Hemorrhage into the parenchyma of the cerebellum. https://orcid.org/0000-0002-0736-9199 Cerebellar haemorrhage 2012-04-10T10:57:34Z UMLS:C4023226 human_phenotype HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wall HP:0011696 2012-04-10T10:59:00Z UMLS:C4023225 human_phenotype HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wall HP:0011697 2012-04-10T10:59:45Z UMLS:C4023224 human_phenotype HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septum HP:0011698 2012-04-10T11:15:27Z UMLS:C4023223 human_phenotype HP:0011699 Atrial reentry tachycardia HP:0011699 Chronic supraventricular tachycardia predominantly seen in childhood. 2012-04-10T11:19:33Z SNOMEDCT_US:233892002 UMLS:C0039234 human_phenotype HP:0011700 Automatic atrial tachycardia HP:0011700 Chronic supraventricular tachycardia predominantly seen in childhood. PMID:4019927 Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. 2012-04-10T11:20:13Z SNOMEDCT_US:49982000 UMLS:C0221158 Chaotic atrial tachycardia Ectopic atrial tachycardia human_phenotype HP:0011701 Multifocal atrial tachycardia HP:0011701 Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. ORPHA:3282 Chaotic atrial tachycardia ORPHA:3282 PMID:5451226 An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. 2012-04-10T11:22:43Z Fyler:7010 UMLS:C4023222 human_phenotype HP:0011702 Abnormal electrophysiology of sinoatrial node origin HP:0011702 An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. https://orcid.org/0000-0002-0736-9199 Heart rate of greater than 100 beats per minute. 2012-04-10T11:30:45Z SNOMEDCT_US:11092001 UMLS:C0039239 Sinus tach Sinus tachy human_phenotype HP:0011703 Sinus tachycardia HP:0011703 Sinus tach https://orcid.org/0000-0001-6908-9849 Sinus tachy https://orcid.org/0000-0001-6908-9849 An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. 2012-04-10T11:31:17Z SNOMEDCT_US:36083008 UMLS:C0037052 Sinoatrial node disease human_phenotype HP:0011704 Sick sinus syndrome HP:0011704 An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. PMID:17420362 Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. 2012-04-11T07:17:18Z SNOMEDCT_US:270492004 UMLS:C0085614 human_phenotype HP:0011705 The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. First degree atrioventricular block HP:0011705 Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. 2012-04-11T07:22:35Z SNOMEDCT_US:195042002 UMLS:C0264906 human_phenotype HP:0011706 Second degree atrioventricular block HP:0011706 An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). 2012-04-11T07:25:17Z SNOMEDCT_US:54016002 UMLS:C0264907 Mobitz type 1 atrioventricular block Wenckebach block human_phenotype HP:0011707 Mobitz I atrioventricular block is associated with a normal QRS duration. Mobitz I atrioventricular block HP:0011707 Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. 2012-04-11T07:34:09Z SNOMEDCT_US:28189009 UMLS:C0155700 Mobitz type 2 atrioventricular block human_phenotype HP:0011708 Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. Mobitz II atrioventricular block HP:0011708 A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. 2012-04-11T07:46:37Z SNOMEDCT_US:50799005 UMLS:C0004331 human_phenotype HP:0011709 Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. Atrioventricular dissociation HP:0011709 Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance. https://orcid.org/0000-0002-0736-9199 Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. 2012-04-11T07:55:50Z SNOMEDCT_US:6374002 UMLS:C0006384 Bundle-branch block human_phenotype HP:0011710 The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. The Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. Bundle branch block HP:0011710 Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Conduction block in the anterior division of the left bundle branch of the bundle of His. 2012-04-11T08:02:03Z SNOMEDCT_US:37760005 UMLS:C0264912 Left anterior hemiblock human_phenotype HP:0011711 Left anterior fascicular block HP:0011711 Conduction block in the anterior division of the left bundle branch of the bundle of His. HPO_CONTRIBUTOR:DDD_dbrown A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. 2012-04-11T08:02:08Z SNOMEDCT_US:59118001 UMLS:C0085615 Right bundle branch block Right bundle-branch block human_phenotype HP:0011712 Complete right bundle branch block HP:0011712 A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. 2012-04-11T08:04:34Z SNOMEDCT_US:63467002 UMLS:C0023211 human_phenotype HP:0011713 Left bundle branch block HP:0011713 A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. HPO_CONTRIBUTOR:DDD_dbrown https://orcid.org/0000-0002-0736-9199 Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. 2012-04-11T10:11:39Z UMLS:C4023221 human_phenotype HP:0011714 Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. Libman-Sacks lesions HP:0011714 Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve. PMID:18421506 Abnormal conduction in all three divisions of the intraventricular conducting tissue. 2012-04-11T08:10:14Z SNOMEDCT_US:86014007 UMLS:C0155707 human_phenotype HP:0011715 Trifascicular block HP:0011715 Abnormal conduction in all three divisions of the intraventricular conducting tissue. HPO_CONTRIBUTOR:DDD_dbrown Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. 2012-04-11T08:42:28Z SNOMEDCT_US:233901002 SNOMEDCT_US:419166005 UMLS:C0039235 human_phenotype HP:0011716 Junctional ectopic tachycardia HP:0011716 Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. PMID:22826742 Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove. 2012-04-11T08:42:52Z UMLS:C4023220 AV nodal reentry tachycardia human_phenotype HP:0011717 Atrioventricular reentrant tachycardia HP:0011717 An abnormality of the pulmonary veins. 2012-04-11T08:45:48Z SNOMEDCT_US:111322000 SNOMEDCT_US:128585006 SNOMEDCT_US:199113001 UMLS:C0265914 Abnormality of lung veins human_phenotype HP:0011718 The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. Abnormality of the pulmonary veins HP:0011718 An abnormality of the pulmonary veins. https://orcid.org/0000-0002-0736-9199 Abnormality of lung veins Type 1 total anomalous pulmonary venous connection. 2012-04-11T08:50:39Z Fyler:0910 Fyler:910 UMLS:C4021131 Supracardiac total anomalous pulmonary venous connexion Total anomalous pulmonary venous connection, supracardiac Type 1 total anomalous pulmonary venous connection human_phenotype HP:0011719 Supracardiac total anomalous pulmonary venous connection HP:0011719 Type 1 total anomalous pulmonary venous connection. HPO_CONTRIBUTOR:DDD_dbrown Supracardiac total anomalous pulmonary venous connexion Type 2 total anomalous pulmonary venous connection. 2012-04-11T08:51:32Z Fyler:0920 Fyler:0930 Fyler:920 Fyler:930 UMLS:C4021130 Cardiac total anomalous pulmonary venous connexion Total anomalous pulmonary venous connection, intracardiac Type 2 total anomalous pulmonary venous connection human_phenotype HP:0011720 Cardiac total anomalous pulmonary venous connection HP:0011720 Type 2 total anomalous pulmonary venous connection. HPO_CONTRIBUTOR:DDD_dbrown Cardiac total anomalous pulmonary venous connexion Type 3 total anomalous pulmonary venous connection. 2012-04-11T08:52:28Z UMLS:C4021129 Infracardiac total anomalous pulmonary venous connexion Type 3 total anomalous pulmonary venous connection human_phenotype HP:0011721 Infracardiac total anomalous pulmonary venous connection HP:0011721 Type 3 total anomalous pulmonary venous connection. HPO_CONTRIBUTOR:DDD_dbrown Infracardiac total anomalous pulmonary venous connexion Type 4 total anomalous pulmonary venous connection. 2012-04-11T08:53:37Z Fyler:0950 Fyler:950 UMLS:C4021128 Mixed total anomalous pulmonary venous connexion Total anomalous pulmonary venous connection, mixed Type 4 total anomalous pulmonary venous connection human_phenotype HP:0011722 Mixed total anomalous pulmonary venous connection HP:0011722 Type 4 total anomalous pulmonary venous connection. HPO_CONTRIBUTOR:DDD_dbrown Mixed total anomalous pulmonary venous connexion Type 4 total anomalous pulmonary venous connection https://orcid.org/0000-0001-5208-3432 Defect or defects of the morphogenesis of the right heart identifiable at birth. 2012-04-11T08:56:19Z UMLS:C4023219 human_phenotype HP:0011723 Congenital malformation of the right heart HP:0011723 Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. 2012-04-11T08:59:07Z SNOMEDCT_US:2829000 UMLS:C0265857 human_phenotype HP:0011724 Uhl's anomaly HP:0011724 Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium. PMID:10859296 PMID:16322929 2012-04-11T09:01:14Z UMLS:C4023218 human_phenotype HP:0011725 Chaotic multifocal atrial tachycardia HP:0011725 Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. 2012-04-11T09:02:26Z SNOMEDCT_US:206597007 SNOMEDCT_US:233815004 SNOMEDCT_US:35604006 UMLS:C0031190 Persistent foetal circulation human_phenotype HP:0011726 Persistent fetal circulation HP:0011726 Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. HPO_CONTRIBUTOR:DDD_dbrown Persistent foetal circulation Weakness of the peroneal muscles. 2012-04-11T10:26:15Z UMLS:C0240733 Fibularis muscle weakness human_phenotype HP:0011727 THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. Peroneal muscle weakness HP:0011727 Weakness of the peroneal muscles. https://orcid.org/0000-0002-0736-9199 Fibularis muscle weakness https://orcid.org/0000-0001-6908-9849 Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. 2012-04-17T08:56:48Z UMLS:C4023217 human_phenotype HP:0011728 Elbow clonus HP:0011728 Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint. https://orcid.org/0000-0002-0736-9199 An abnormality in the range and ease of motion of joints across their normal range. 2012-04-18T07:09:28Z UMLS:C4023216 human_phenotype HP:0011729 Abnormality of joint mobility HP:0011729 An abnormality in the range and ease of motion of joints across their normal range. https://orcid.org/0000-0002-0736-9199 An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. 2012-04-19T07:44:18Z UMLS:C4023215 Abnormality of central sensory function human_phenotype HP:0011730 Abnormal central sensory function HP:0011730 An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. https://orcid.org/0000-0002-0736-9199 An abnormality of the concentration of cortisol in the blood. 2012-04-21T07:59:26Z UMLS:C4023214 human_phenotype HP:0011731 Abnormality of circulating cortisol level HP:0011731 An abnormality of the concentration of cortisol in the blood. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the adrenal glands. 2012-04-21T08:04:29Z UMLS:C4023213 Abnormality of adrenal morphology human_phenotype HP:0011732 Abnormal adrenal morphology HP:0011732 Any structural anomaly of the adrenal glands. https://orcid.org/0000-0002-0736-9199 A functional abnormality of the adrenal glands. 2012-04-21T08:05:42Z HP:0002855 UMLS:C4023212 human_phenotype HP:0011733 Abnormality of adrenal physiology HP:0011733 A functional abnormality of the adrenal glands. https://orcid.org/0000-0002-0736-9199 A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. 2012-04-21T08:26:19Z UMLS:C0948387 Secondary adrenal insufficiency human_phenotype HP:0011734 Central adrenal insufficiency HP:0011734 A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. https://orcid.org/0000-0002-0538-4547 Adrenal insufficiency secondary to a defect in ACTH production. 2012-04-21T09:06:46Z UMLS:C4023211 ACTH deficient adrenal insufficiency human_phenotype HP:0011735 Adrenocorticotropin deficient adrenal insufficiency HP:0011735 Adrenal insufficiency secondary to a defect in ACTH production. https://orcid.org/0000-0002-0538-4547 A form of hyperaldosteronism caused by a defect within the adrenal gland. 2012-04-21T09:26:05Z SNOMEDCT_US:190507007 SNOMEDCT_US:258117004 UMLS:C1384514 human_phenotype HP:0011736 Primary hyperaldosteronism HP:0011736 A form of hyperaldosteronism caused by a defect within the adrenal gland. https://orcid.org/0000-0002-0538-4547 Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. 2012-04-21T09:09:56Z UMLS:C4021127 CRH deficient adrenal insufficiency Tertiary adrenal insufficiency human_phenotype HP:0011737 Corticotropin-releasing hormone deficient adrenal insufficiency HP:0011737 Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production. https://orcid.org/0000-0002-0538-4547 Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. 2012-04-21T09:11:04Z UMLS:C4020745 UMLS:C4023210 CRHR defect human_phenotype Corticotropin-releasing hormone receptor (CRHR) resistance HP:0011738 Corticotropin-releasing hormone receptor defect HP:0011738 Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor. https://orcid.org/0000-0002-0538-4547 A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. 2012-04-21T09:27:36Z UMLS:C4020743 UMLS:C4020744 UMLS:C4023209 human_phenotype Familial primary hyperaldosteronism type 1 Glucocorticoid-remediable familial primary aldosteronism HP:0011739 Dexamethasone-suppressible primary hyperaldosteronism HP:0011739 A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. 2012-04-21T09:29:51Z UMLS:C4020742 UMLS:C4023208 human_phenotype Familial primary hyperaldosteronism type 2 HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism HP:0011740 A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 A form of hyperaldosteronism caused by abnormally increased renin levels. 2012-04-21T09:32:28Z SNOMEDCT_US:67805000 UMLS:C0271728 Hyperreninemic hyperaldosteronism human_phenotype HP:0011741 Secondary hyperaldosteronism HP:0011741 A form of hyperaldosteronism caused by abnormally increased renin levels. https://orcid.org/0000-0002-0538-4547 Abnormal anatomical location of the adrenal gland. 2012-04-21T09:45:15Z SNOMEDCT_US:49494003 UMLS:C0266275 Abnormal adrenal gland position human_phenotype HP:0011742 Ectopic adrenal gland HP:0011742 Abnormal anatomical location of the adrenal gland. https://orcid.org/0000-0002-0538-4547 Abnormal adrenal gland position https://orcid.org/0000-0001-5208-3432 Absent development of the adrenal gland. 2012-04-21T09:46:49Z Adrenal agenesis Congenital absence of the adrenal glands human_phenotype HP:0011743 Adrenal gland agenesis HP:0011743 Absent development of the adrenal gland. https://orcid.org/0000-0002-0538-4547 Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. 2012-04-21T11:46:27Z UMLS:C4020741 UMLS:C4023207 human_phenotype ACTH-dependent hypercortisolemia HP:0011744 Secondary hypercortisolism HP:0011744 Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol. https://orcid.org/0000-0002-0736-9199 An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. 2012-04-21T11:55:18Z UMLS:C4021126 Non-secretory adrenal adenoma human_phenotype HP:0011745 Non-secretory adrenocortical adenoma HP:0011745 An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones. https://orcid.org/0000-0002-0538-4547 An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. 2012-04-21T11:58:38Z UMLS:C4021125 Secretory adrenal adenoma human_phenotype HP:0011746 Secretory adrenocortical adenoma HP:0011746 An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. https://orcid.org/0000-0002-0538-4547 An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. 2012-04-22T11:17:00Z SNOMEDCT_US:399244003 UMLS:C0032002 UMLS:C4023206 human_phenotype Pituitary disease HP:0011747 Abnormality of the anterior pituitary HP:0011747 An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. https://orcid.org/0000-0002-0538-4547 A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. 2012-04-22T11:27:04Z SNOMEDCT_US:237692001 UMLS:C0342388 ACTH deficiency Corticotropin deficiency human_phenotype HP:0011748 Adrenocorticotropic hormone deficiency HP:0011748 A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. https://orcid.org/0000-0002-0538-4547 Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. 2012-04-22T01:09:54Z UMLS:C4021124 ACTH excess human_phenotype HP:0011749 This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. Adrenocorticotropic hormone excess HP:0011749 Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. https://orcid.org/0000-0002-0538-4547 A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. 2012-04-22T01:18:46Z NCIT:C3262 UMLS:C4023205 Neoplasm of the adenohypophysis Neoplasm of the pars anterior human_phenotype HP:0011750 Neoplasm of the anterior pituitary HP:0011750 A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. https://orcid.org/0000-0002-0538-4547 Neoplasm of the adenohypophysis https://orcid.org/0000-0001-6908-9849 Neoplasm of the pars anterior https://orcid.org/0000-0001-6908-9849 An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. 2012-04-22T01:20:33Z UMLS:C4023204 Abnormality of the neurohypophysis Abnormality of the posterior pituitary human_phenotype HP:0011751 Abnormal posterior pituitary morphogenesis HP:0011751 An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Abnormality of the neurohypophysis https://orcid.org/0000-0001-6908-9849 The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. 2012-04-22T01:31:18Z NCIT:C3262 UMLS:C1334957 Neoplasm of the neurohypophysis human_phenotype HP:0011752 Neoplasm of the posterior pituitary HP:0011752 The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. https://orcid.org/0000-0002-0538-4547 Neoplasm of the neurohypophysis https://orcid.org/0000-0001-6908-9849 Abnormal development of the neurohypophysis during embryonic growth and development. 2012-04-22T01:42:04Z UMLS:C4021123 Neurohypophysis dysplasia Posterior pituitary dysplasia human_phenotype HP:0011753 Posterior pituitary dysgenesis HP:0011753 Abnormal development of the neurohypophysis during embryonic growth and development. https://orcid.org/0000-0002-0538-4547 Neurohypophysis dysplasia https://orcid.org/0000-0001-6908-9849 A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. 2012-04-22T01:34:00Z ICD-O:9432/1 SNOMEDCT_US:450901008 SNOMEDCT_US:608817003 UMLS:C2986550 human_phenotype HP:0011754 Pituicytoma HP:0011754 A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern. PMID:17618441 PMID:19109577 https://orcid.org/0000-0002-0538-4547 ICD-O:9432/1 Pituicytoma An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. 2012-04-22T01:43:25Z SNOMEDCT_US:715727009 UMLS:C3279571 UMLS:C4053775 Ectopic neurohypophysis Ectopic posterior pituitary lobe human_phenotype HP:0011755 Ectopic posterior pituitary HP:0011755 An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Ectopic neurohypophysis https://orcid.org/0000-0001-6908-9849 Absence of the neurohypophysis owing to a developmental defect. 2012-04-22T01:55:35Z UMLS:C4023203 Neurohypophysis agenesis human_phenotype HP:0011756 Posterior pituitary agenesis HP:0011756 Absence of the neurohypophysis owing to a developmental defect. https://orcid.org/0000-0002-0538-4547 Neurohypophysis agenesis https://orcid.org/0000-0001-6908-9849 Underdevelopment of the neurohypophysis. 2012-04-22T01:56:23Z UMLS:C4023202 Neurohypophysis hypoplasia human_phenotype HP:0011757 Posterior pituitary hypoplasia HP:0011757 Underdevelopment of the neurohypophysis. https://orcid.org/0000-0002-0538-4547 Neurohypophysis hypoplasia https://orcid.org/0000-0001-6908-9849 2012-04-22T03:03:47Z UMLS:C4023201 human_phenotype HP:0011758 Pituitary acidophilic stem cell adenoma HP:0011758 A type of pituitary adenoma that produces gonadotropins. 2012-04-22T03:37:35Z UMLS:C4021122 Pituitary gonadotropinoma human_phenotype HP:0011759 Pituitary gonadotropic cell adenoma HP:0011759 A type of pituitary adenoma that produces gonadotropins. https://orcid.org/0000-0002-0538-4547 A type of pituitary adenoma that produces growth hormone. 2012-04-22T03:38:10Z UMLS:C4018860 Pituitary somatotropinoma human_phenotype HP:0011760 Pituitary growth hormone cell adenoma HP:0011760 A type of pituitary adenoma that produces growth hormone. https://orcid.org/0000-0002-0538-4547 A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. 2012-04-22T03:39:00Z SNOMEDCT_US:254962005 UMLS:C0338078 Clinically silent pituitary adenoma Hormonally silent pituitary adenoma Non-functional pituitary adenoma Silent pituitary adenoma human_phenotype HP:0011761 Pituitary null cell adenoma HP:0011761 A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. https://orcid.org/0000-0002-0538-4547 A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). 2012-04-22T03:42:08Z UMLS:C4021121 Pituitary thyrotropinoma human_phenotype HP:0011762 Pituitary thyrotropic cell adenoma HP:0011762 A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). https://orcid.org/0000-0002-0538-4547 A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. 2012-04-22T03:52:30Z SNOMEDCT_US:128665000 SNOMEDCT_US:254955001 UMLS:C0346300 human_phenotype HP:0011763 Pituitary carcinoma HP:0011763 A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS. NCIT:C4536 PMID:15741248 https://orcid.org/0000-0002-0538-4547 A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. 2012-04-22T03:57:01Z UMLS:C4023200 human_phenotype HP:0011764 Pituitary spindle cell oncocytoma HP:0011764 A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular. PMID:21886889 https://orcid.org/0000-0002-0538-4547 HP:0012731 human_phenotype HP:0011765 obsolete Ectopic anterior pituitary true HP:0011765 A structural abnormality of the parathyroid gland. 2012-04-22T04:08:26Z UMLS:C4023199 Abnormality of the parathyroid morphology human_phenotype HP:0011766 Abnormal parathyroid morphology HP:0011766 A structural abnormality of the parathyroid gland. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 A functional abnormality of the parathyroid gland. 2012-04-22T04:09:13Z Parathyroid issue UMLS:C4023198 Parathyroid dysfunction human_phenotype HP:0011767 Abnormality of the parathyroid physiology HP:0011767 A functional abnormality of the parathyroid gland. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 Parathyroid issue Parathyroid dysfunction Abnormal embryonic development of the parathyroid gland. 2012-04-22T04:20:41Z UMLS:C4023197 human_phenotype HP:0011768 Parathyroid dysgenesis HP:0011768 Abnormal embryonic development of the parathyroid gland. https://orcid.org/0000-0002-0538-4547 An abnormal anatomical location of the parathyroid gland. 2012-04-22T04:22:26Z UMLS:C4023196 human_phenotype HP:0011769 Ectopic parathyroid HP:0011769 An abnormal anatomical location of the parathyroid gland. https://orcid.org/0000-0002-0538-4547 A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. 2012-04-22T04:38:20Z SNOMEDCT_US:78200003 UMLS:C0271858 human_phenotype HP:0011770 Tertiary hyperparathyroidism HP:0011770 A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism. https://orcid.org/0000-0002-0538-4547 A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. 2012-04-22T04:54:37Z SNOMEDCT_US:75316000 UMLS:C0271865 human_phenotype HP:0011771 Autoimmune hypoparathyroidism HP:0011771 A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity. PMID:19328421 https://orcid.org/0000-0002-0538-4547 A structural abnormality of the thyroid gland. 2012-04-22T05:54:57Z UMLS:C4023195 Abnormal shape of thyroid gland Abnormality of thyroid morphology human_phenotype HP:0011772 Abnormal thyroid morphology HP:0011772 A structural abnormality of the thyroid gland. https://orcid.org/0000-0002-0538-4547 Abnormal shape of thyroid gland https://orcid.org/0000-0001-5208-3432 Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. 2012-04-22T05:56:30Z SNOMEDCT_US:237569006 UMLS:C0342205 Uninodular goitre human_phenotype HP:0011773 Uninodular goiter HP:0011773 Enlargement of the thyroid gland related to a singular nodule in the thyroid gland. https://orcid.org/0000-0002-0538-4547 Uninodular goitre 2012-04-22T06:01:31Z SNOMEDCT_US:255033000 SNOMEDCT_US:255034006 UMLS:C0151468 human_phenotype HP:0011774 Thyroid follicular adenoma HP:0011774 2012-04-22T06:01:42Z UMLS:C4023194 human_phenotype HP:0011775 Thyroid macrofollicular adenoma HP:0011775 2012-04-22T06:01:48Z UMLS:C4023193 human_phenotype HP:0011776 Thyroid microfollicular adenoma HP:0011776 2012-04-22T06:02:12Z UMLS:C4023192 human_phenotype HP:0011777 Thyroid papillary adenoma HP:0011777 2012-04-22T06:02:26Z UMLS:C4023191 human_phenotype HP:0011778 Thyroid atypical adenoma HP:0011778 2012-04-22T06:02:52Z SNOMEDCT_US:255031003 UMLS:C0238461 human_phenotype HP:0011779 Anaplastic thyroid carcinoma HP:0011779 Absence of a lobe of the thyroid gland related to a failure of its embryologic development. 2012-04-22T06:04:32Z SNOMEDCT_US:715734006 UMLS:C4023190 human_phenotype HP:0011780 Thyroid hemiagenesis HP:0011780 Absence of a lobe of the thyroid gland related to a failure of its embryologic development. https://orcid.org/0000-0002-0538-4547 An abnormal growth of parafollicular (C-cells) cells. 2012-04-22T06:05:57Z SNOMEDCT_US:237552009 UMLS:C0342190 human_phenotype HP:0011781 Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. Thyroid C cell hyperplasia HP:0011781 An abnormal growth of parafollicular (C-cells) cells. https://orcid.org/0000-0002-0538-4547 https://orcid.org/0000-0002-0736-9199 2012-04-22T06:10:37Z SNOMEDCT_US:29028009 UMLS:C0040127 human_phenotype HP:0011782 Thyroid crisis HP:0011782 2012-04-22T06:10:51Z SNOMEDCT_US:87232008 UMLS:C0154148 human_phenotype HP:0011783 Thyrotoxicosis from ectopic thyroid tissue HP:0011783 2012-04-22T06:11:09Z SNOMEDCT_US:267374005 UMLS:C0342122 Thyrotoxicosis with diffuse goiter human_phenotype HP:0011784 Thyrotoxicosis with diffuse goiter HP:0011784 2012-04-22T06:15:52Z SNOMEDCT_US:26389007 UMLS:C0154143 Thyrotoxicosis with toxic multinodular goitre human_phenotype HP:0011785 Thyrotoxicosis with toxic multinodular goiter HP:0011785 Thyrotoxicosis with toxic multinodular goitre 2012-04-22T06:16:09Z SNOMEDCT_US:69329005 SNOMEDCT_US:73869005 UMLS:C0154141 human_phenotype HP:0011786 Thyrotoxicosis with toxic single thyroid nodule HP:0011786 A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. 2012-04-22T06:25:45Z SNOMEDCT_US:26692000 UMLS:C0271801 human_phenotype HP:0011787 Central hypothyroidism HP:0011787 A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. PMID:18415684 https://orcid.org/0000-0002-0538-4547 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. 2012-04-22T06:31:08Z UMLS:C4021843 Increased circulating free triiodothyronine Increased serum fT3 Increased serum free T3 Increased serum free triiodothyronine human_phenotype HP:0011788 Increased circulating free T3 HP:0011788 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. https://orcid.org/0000-0002-0736-9199 Increased serum fT3 Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). 2012-04-22T06:32:33Z UMLS:C4023189 TSHR defect Thyroid-stimulating hormone receptor defect human_phenotype HP:0011789 Impaired sensitivity to thyroid stimulating hormone HP:0011789 Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). PMID:28648507 Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. 2012-04-22T06:34:35Z UMLS:C4023188 Activating TSHR defect human_phenotype HP:0011790 Activating thyroid-stimulating hormone receptor defect HP:0011790 Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. https://orcid.org/0000-0002-0538-4547 Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. 2012-04-22T06:35:14Z UMLS:C4023187 Inactivating TSHR defect human_phenotype HP:0011791 Inactivating thyroid-stimulating hormone receptor defect HP:0011791 Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect. https://orcid.org/0000-0002-0538-4547 Neoplasm categorized according to type of histological abnormality. 2012-04-22T06:57:50Z UMLS:C4023186 human_phenotype HP:0011792 Neoplasm by histology HP:0011792 Neoplasm categorized according to type of histological abnormality. https://orcid.org/0000-0002-9113-2978 Neoplasm categorized according to the anatomical site of origin of the neoplasm. 2012-04-22T07:00:13Z UMLS:C4023185 human_phenotype HP:0011793 Neoplasm by anatomical site HP:0011793 Neoplasm categorized according to the anatomical site of origin of the neoplasm. https://orcid.org/0000-0002-9113-2978 The presence of an embryonal neoplasm of the kidney that primarily affects children. 2012-04-22T07:44:34Z UMLS:C4023184 human_phenotype HP:0011794 Embryonal renal neoplasm HP:0011794 The presence of an embryonal neoplasm of the kidney that primarily affects children. https://orcid.org/0000-0002-9113-2978 Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). 2012-04-22T07:50:10Z SNOMEDCT_US:405934001 UMLS:C1319016 human_phenotype HP:0011795 Intralobar nephroblastomatosis HP:0011795 Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it). https://orcid.org/0000-0002-9113-2978 Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). 2012-04-22T07:50:25Z SNOMEDCT_US:405935000 UMLS:C1319017 human_phenotype HP:0011796 Perilobar nephroblastomatosis HP:0011796 Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar). https://orcid.org/0000-0002-9113-2978 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. 2012-04-22T08:03:34Z UMLS:C1336839 human_phenotype HP:0011797 Papillary renal cell carcinoma type 1 HP:0011797 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli. PMID:12429790 https://orcid.org/0000-0002-9113-2978 A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. 2012-04-22T08:13:36Z SNOMEDCT_US:254922006 UMLS:C0346255 human_phenotype HP:0011798 Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). Renal oncocytoma HP:0011798 A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm. https://orcid.org/0000-0002-9113-2978 2012-04-23T07:27:57Z UMLS:C4023183 Abnormality of facial soft tissue Anomaly of facial soft tissue Deformity of facial soft tissue Malformation of facial soft tissue human_phenotype HP:0011799 Abnormality of facial soft tissue HP:0011799 Abnormality of facial soft tissue Anomaly of facial soft tissue https://orcid.org/0000-0001-5889-4463 Deformity of facial soft tissue https://orcid.org/0000-0001-5889-4463 Malformation of facial soft tissue https://orcid.org/0000-0001-5889-4463 Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. 2012-04-24T07:46:05Z HP:0040199 Small midface UMLS:C1853242 UMLS:C2673410 UMLS:C4280320 UMLS:C4280321 Decreased size of midface Flat midface Hypoplasia of midface Midface deficiency Midface hypoplasia Midface retrusion Midface, flat Retrusive midface Underdevelopment of midface Decreased projection of midface human_phenotype Hypotrophic midface HP:0011800 Midface retrusion HP:0011800 Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. PMID:19125436 https://orcid.org/0000-0002-9602-2321 Small midface https://orcid.org/0000-0001-5889-4463 Decreased size of midface https://orcid.org/0000-0001-5889-4463 Midface deficiency https://orcid.org/0000-0001-5889-4463 Midface hypoplasia https://orcid.org/0000-0002-5316-1399 Midface retrusion Retrusive midface https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Underdevelopment of midface https://orcid.org/0000-0001-5889-4463 Decreased projection of midface https://orcid.org/0000-0001-5889-4463 Hypotrophic midface https://orcid.org/0000-0001-5889-4463 Increased size of the parotid gland. 2012-04-24T07:59:05Z SNOMEDCT_US:29748005 UMLS:C0341047 Hyperplasia of parotid gland Increased size of parotid gland human_phenotype Hypertrophy of parotid gland HP:0011801 Enlargement of parotid gland HP:0011801 Increased size of the parotid gland. https://orcid.org/0000-0002-9602-2321 Increased size of parotid gland https://orcid.org/0000-0001-5889-4463 Hypertrophy of parotid gland https://orcid.org/0000-0001-5889-4463 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. 2012-04-24T08:02:16Z SNOMEDCT_US:253753005 UMLS:C0431565 Lingual hamartoma human_phenotype HP:0011802 Hamartoma of tongue HP:0011802 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. PMID:17667541 https://orcid.org/0000-0002-0736-9199 Lingual hamartoma https://orcid.org/0000-0001-5889-4463 Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. 2012-04-25T08:09:58Z SNOMEDCT_US:204521002 UMLS:C0221363 UMLS:C4280318 UMLS:C4280319 Bifid nasal bridge Indentation or clefting of the nose human_phenotype Cleft nasal bridge Cleft nose Indented bridge of nose HP:0011803 This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. Bifid nose HP:0011803 Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. PMID:19152422 Bifid nasal bridge https://orcid.org/0000-0001-5889-4463 Indentation or clefting of the nose https://orcid.org/0000-0002-6548-5200 Cleft nasal bridge https://orcid.org/0000-0001-5889-4463 Cleft nose https://orcid.org/0000-0001-5889-4463 Indented bridge of nose https://orcid.org/0000-0001-5889-4463 A functional abnormality of a skeletal muscle. 2012-04-25T02:00:15Z UMLS:C4023182 Abnormality of muscle physiology Issue with muscle function human_phenotype HP:0011804 Abnormal muscle physiology HP:0011804 A functional abnormality of a skeletal muscle. https://orcid.org/0000-0002-0736-9199 Issue with muscle function A structural abnormality of a skeletal muscle. 2012-04-25T02:00:34Z HP:0003735 UMLS:C4023181 Abnormal muscle morphology Abnormality of muscle morphology Abnormally shaped muscle Issue with muscle structure human_phenotype HP:0011805 Abnormal skeletal muscle morphology HP:0011805 A structural abnormality of a skeletal muscle. https://orcid.org/0000-0002-0736-9199 Abnormally shaped muscle https://orcid.org/0000-0001-5208-3432 Issue with muscle structure true HP:0011806 Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. 2012-04-26T12:05:14Z UMLS:C4023180 Type 1 muscle fibre atrophy human_phenotype HP:0011807 Type 1 muscle fiber atrophy HP:0011807 Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. https://orcid.org/0000-0002-0736-9199 Type 1 muscle fibre atrophy Decreased intensity of the patellar reflex (also known as the knee jerk reflex). 2012-04-27T08:38:22Z UMLS:C3277184 Decreased knee jerk reflex Decreased patellar reflexes human_phenotype HP:0011808 Decreased patellar reflex HP:0011808 Decreased intensity of the patellar reflex (also known as the knee jerk reflex). https://orcid.org/0000-0002-0736-9199 Decreased knee jerk reflex https://orcid.org/0000-0001-6908-9849 Decreased patellar reflexes https://orcid.org/0000-0002-5316-1399 A type of myotonia that worsens with repeated muscle contractions. 2012-04-27T01:20:08Z UMLS:C4023179 human_phenotype HP:0011809 In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. Paradoxical myotonia HP:0011809 A type of myotonia that worsens with repeated muscle contractions. PMID:7678441 https://orcid.org/0000-0002-0736-9199 A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. 2012-04-28T02:50:12Z UMLS:C4023178 human_phenotype HP:0011810 A normal individual can sense about a 3 mm separation of points on the fingertips. Impaired two-point discrimination HP:0011810 A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart. https://orcid.org/0000-0002-0736-9199 A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. 2012-04-28T02:54:44Z UMLS:C4021120 Impaired topognosis Impaired touch localisation human_phenotype HP:0011811 Impaired touch localization HP:0011811 A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip. https://orcid.org/0000-0002-0736-9199 Impaired topognosis https://orcid.org/0000-0001-6908-9849 Impaired touch localisation Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). 2012-04-28T02:56:29Z UMLS:C1328618 human_phenotype HP:0011812 Agraphesthesia HP:0011812 Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). https://orcid.org/0000-0002-0736-9199 Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. 2012-04-28T03:17:57Z UMLS:C4023177 human_phenotype HP:0011813 Increased cerebral lipofuscin HP:0011813 Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. PMID:9531959 https://orcid.org/0000-0002-0736-9199 The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. 2012-04-28T03:38:52Z UMLS:C3810487 human_phenotype HP:0011814 Increased urinary hypoxanthine level HP:0011814 The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. 2012-04-29T09:04:09Z SNOMEDCT_US:253101008 SNOMEDCT_US:48777005 SNOMEDCT_US:55999004 UMLS:C0014065 human_phenotype HP:0011815 A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720). Cephalocele HP:0011815 A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. PMID:24931720 https://orcid.org/0000-0002-0736-9199 An encephalocele located between bregma and lambda. 2012-04-29T09:07:38Z SNOMEDCT_US:253109005 UMLS:C0431294 human_phenotype HP:0011816 Parietal encephalocele HP:0011816 An encephalocele located between bregma and lambda. PMID:2773494 https://orcid.org/0000-0002-2972-5481 Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. 2012-04-29T09:14:34Z UMLS:C4023176 human_phenotype HP:0011817 The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. Basal encephalocele HP:0011817 Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. PMID:4966739 https://orcid.org/0000-0002-0736-9199 2012-04-29T09:20:25Z SNOMEDCT_US:253106003 UMLS:C0431291 Naso-frontal encephalocele human_phenotype HP:0011818 Nasofrontal encephalocele HP:0011818 A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. 2012-04-29T09:49:02Z UMLS:C4023175 Partial thickness cleft soft palate Submucous cleft velum human_phenotype HP:0011819 Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. Submucous cleft soft palate HP:0011819 A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. https://orcid.org/0000-0002-0736-9199 Partial thickness cleft soft palate https://orcid.org/0000-0001-5889-4463 Submucous cleft velum https://orcid.org/0000-0001-5889-4463 Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. 2012-04-29T01:12:43Z UMLS:C4023174 human_phenotype HP:0011820 Membranous choanal atresia HP:0011820 Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike. HPO_CONTRIBUTOR:DDD_jhurst An abnormality of one or more of the set of bones that make up the facial skeleton. 2012-04-29T04:37:30Z SNOMEDCT_US:433096001 UMLS:C2315229 Abnormality of facial skeleton Anomaly of facial skeleton Abnormality of facial bones Anomaly of facial bones Deformity of facial skeleton Deformity of the facial bones Malformation of facial bones Malformation of facial skeleton human_phenotype HP:0011821 The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. Abnormal facial skeleton morphology HP:0011821 An abnormality of one or more of the set of bones that make up the facial skeleton. https://orcid.org/0000-0002-2972-5481 Abnormality of facial skeleton Anomaly of facial skeleton https://orcid.org/0000-0001-5889-4463 Abnormality of facial bones https://orcid.org/0000-0001-5889-4463 Anomaly of facial bones https://orcid.org/0000-0001-5889-4463 Deformity of facial skeleton https://orcid.org/0000-0001-5889-4463 Deformity of the facial bones https://orcid.org/0000-0001-5889-4463 Malformation of facial bones https://orcid.org/0000-0001-5889-4463 Malformation of facial skeleton https://orcid.org/0000-0001-5889-4463 Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. 2012-04-30T08:23:35Z UMLS:C4023172 Broad chin Increased width of chin Increased width of menton region Wide chin human_phenotype HP:0011822 Broad chin HP:0011822 Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. PMID:19125436 Broad chin Increased width of chin https://orcid.org/0000-0001-5889-4463 Increased width of menton region https://orcid.org/0000-0001-5889-4463 Wide chin Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. 2012-04-30T08:33:02Z UMLS:C4023171 Chin with horizontal crease Chin with horizontal furrow Chin with horizontal groove Chin with horizontal sulcus Horizontal chin skin cleft Horizontal menton crease human_phenotype HP:0011823 Chin with horizontal crease HP:0011823 Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. PMID:19125436 Chin with horizontal crease Chin with horizontal groove Horizontal chin skin cleft https://orcid.org/0000-0001-5889-4463 Horizontal menton crease https://orcid.org/0000-0001-5889-4463 H-shaped crease in the fat pad of the chin. 2012-04-30T08:34:24Z UMLS:C1860309 Chin with H-shaped crease Chin, H-Shaped Crease Chin, H-shaped groove H shaped chin dimple H-shaped dimple of the chin human_phenotype HP:0011824 The H-shape must be distinguished from Vertical crease of the chin. Chin with H-shaped crease HP:0011824 H-shaped crease in the fat pad of the chin. PMID:19125436 PMID:20012803 Chin with H-shaped crease Chin, H-Shaped Crease Chin, H-shaped groove H-shaped dimple of the chin Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. 2012-05-01T10:32:31Z UMLS:C4021119 Philtrum, Tented human_phenotype HP:0011825 A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. Tented philtrum HP:0011825 Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. PMID:19152422 Narrow ridge in the midline of the philtral groove. 2012-05-01T10:33:46Z UMLS:C4021118 Philtrum with central raphe Philtrum with midline ridge Philtrum, midline raphe human_phenotype HP:0011826 The ridge may be very subtly elevated. Philtrum with midline raphe HP:0011826 Narrow ridge in the midline of the philtral groove. PMID:19152422 Philtrum with central raphe https://orcid.org/0000-0001-5889-4463 Philtrum with midline ridge https://orcid.org/0000-0001-5889-4463 Absence of the usual parallel position of philtral ridges. 2012-05-01T10:35:32Z UMLS:C4021117 Asymmetric philtral columns Asymmetric philtral ridges Malaligned philtral columns Philtral Ridges, Malaligned human_phenotype HP:0011827 Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. Malaligned philtral ridges HP:0011827 Absence of the usual parallel position of philtral ridges. PMID:19152422 Asymmetric philtral columns https://orcid.org/0000-0001-5889-4463 Asymmetric philtral ridges https://orcid.org/0000-0001-5889-4463 Malaligned philtral columns https://orcid.org/0000-0001-5889-4463 Pit in the midline of the philtral groove. 2012-05-01T10:36:55Z UMLS:C4021116 Central sinus of philtrum Philtrum, Midline Sinus human_phenotype HP:0011828 Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. Midline sinus of philtrum HP:0011828 Pit in the midline of the philtral groove. PMID:19152422 Central sinus of philtrum https://orcid.org/0000-0001-5889-4463 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. 2012-05-01T10:38:12Z UMLS:C4021115 Decreased breadth of philtrum Decreased horizontal dimension of philtrum Decreased transverse dimension of philtrum Decreased width of philtrum Philtrum, Narrow Thin philtrum human_phenotype HP:0011829 Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. Narrow philtrum HP:0011829 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. PMID:19152422 Decreased breadth of philtrum https://orcid.org/0000-0001-5889-4463 Decreased horizontal dimension of philtrum https://orcid.org/0000-0001-5889-4463 Decreased transverse dimension of philtrum https://orcid.org/0000-0001-5889-4463 Decreased width of philtrum https://orcid.org/0000-0001-5889-4463 Thin philtrum https://orcid.org/0000-0001-5889-4463 Abnormality of the oral mucosa. 2012-05-01T10:43:40Z UMLS:C4023170 Abnormality of lining of mouth Abnormality of mucosa of mouth Abnormality of oral mucosa Abnormality of oral mucous membrane human_phenotype HP:0011830 Abnormal oral mucosa morphology HP:0011830 Abnormality of the oral mucosa. https://orcid.org/0000-0002-0736-9199 Abnormality of lining of mouth https://orcid.org/0000-0001-5889-4463 Abnormality of mucosa of mouth https://orcid.org/0000-0001-5889-4463 Abnormality of oral mucous membrane https://orcid.org/0000-0001-5889-4463 Nasal tip positioned to one side of the midline. 2012-05-01T07:37:48Z UMLS:C4021114 UMLS:C4280271 Asymmetry of nasal tip Asymmetry of tip of nose Crooked nasal tip Crooked tip of nose Deviated nasal tip Deviated tip of nose Nasal tip, deviated Distortion of the nasal tip human_phenotype HP:0011831 There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. Deviated nasal tip HP:0011831 Nasal tip positioned to one side of the midline. PMID:19152422 Asymmetry of nasal tip https://orcid.org/0000-0001-5889-4463 Asymmetry of tip of nose https://orcid.org/0000-0001-5889-4463 Crooked nasal tip https://orcid.org/0000-0001-5889-4463 Crooked tip of nose https://orcid.org/0000-0001-5889-4463 Deviated nasal tip Deviated tip of nose https://orcid.org/0000-0001-5889-4463 Distortion of the nasal tip https://orcid.org/0000-0001-5889-4463 Decrease in width of the nasal tip. 2012-05-01T07:39:09Z SNOMEDCT_US:249331008 UMLS:C0426433 Narrow nasal tip Narrow tip of nose Nasal tip, narrow Nasal tip, pinched Pinched nasal tip Pinched tip of nose Thin nasal tip Thin tip of nose human_phenotype HP:0011832 Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. Narrow nasal tip HP:0011832 Decrease in width of the nasal tip. PMID:19152422 Narrow nasal tip Narrow tip of nose https://orcid.org/0000-0001-5889-4463 Nasal tip, narrow Nasal tip, pinched Pinched nasal tip Pinched tip of nose https://orcid.org/0000-0001-5889-4463 Thin nasal tip https://orcid.org/0000-0001-5889-4463 Thin tip of nose https://orcid.org/0000-0001-5889-4463 Positioning of the nasal tip inferior to the nasal base. 2012-05-01T07:42:15Z SNOMEDCT_US:249328007 UMLS:C0426430 Drooping nasal tip Hooked tip of nose Low hanging nasal tip Nasal tip, overhanging Overhanging nasal tip human_phenotype HP:0011833 This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. Overhanging nasal tip HP:0011833 Positioning of the nasal tip inferior to the nasal base. PMID:19152422 Drooping nasal tip Hooked tip of nose https://orcid.org/0000-0001-5889-4463 Low hanging nasal tip https://orcid.org/0000-0001-5889-4463 Nasal tip, overhanging Overhanging nasal tip A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. 2012-05-05T03:24:26Z UMLS:C4023169 human_phenotype HP:0011834 Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. Moyamoya phenomenon HP:0011834 A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. https://orcid.org/0000-0002-0736-9199 Congenital absence of the scaphoid.. 2012-05-05T07:37:35Z UMLS:C1847189 Missing scaphoid bone human_phenotype Absent scaphoid bone HP:0011835 Absent scaphoid HP:0011835 Congenital absence of the scaphoid.. HPO_CONTRIBUTOR:DDD_jcampbell Missing scaphoid bone https://orcid.org/0000-0001-6908-9849 Absent scaphoid bone https://orcid.org/0000-0002-5316-1399 Delayed maturation and calcification of the talus. 2012-05-05T08:39:24Z UMLS:C4023168 human_phenotype HP:0011836 Delayed talus ossification HP:0011836 Delayed maturation and calcification of the talus. https://orcid.org/0000-0002-0736-9199 HP:0002720 2012-05-06T09:42:01Z human_phenotype HP:0011837 obsolete Partial IgA deficiency true HP:0011837 Localized thickening and tightness of the skin of the fingers or toes. 2012-05-06T10:04:27Z ICD-10:L94.3 SNOMEDCT_US:201051000 SNOMEDCT_US:298285004 UMLS:C0150988 human_phenotype HP:0011838 Sclerodactyly HP:0011838 Localized thickening and tightness of the skin of the fingers or toes. https://orcid.org/0000-0002-0736-9199 ICD-10:L94.3 Sclerodactyly Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2012-05-06T10:43:44Z PMID:14610491 PMID:16816558 PMID:1967190 PMID:36456361 UMLS:C4021113 Abnormal T cell count Abnormal number of T cells Abnormality of T cell number human_phenotype HP:0011839 Absolute counts (cells per microliter) and proportions (percentage of lymphocytes or of a parent subset) capture different information, so clinical practice uses whichever is validated for a given decision. Some thresholds are count-based (e.g. Pneumocystis prophylaxis in adults); others rest on a proportion or on both, as in the SCID definition, which combines an absolute T-cell count with a naive-CD4 proportion. The choice is also age-dependent, since absolute counts vary with age more than percentages do, so percentages are often preferred in young children. Because a count equals a proportion multiplied by the total lymphocyte number, the two can dissociate: a normal proportion may accompany a low absolute count when total lymphocytes are low, and that dissociation can itself be informative. Abnormal total T cell number HP:0011839 Abnormal increase or decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. PMID:22420532 https://orcid.org/0000-0002-0736-9199 Abnormal number of T cells https://orcid.org/0000-0002-5316-1399 Abnormality of T cell number https://orcid.org/0000-0002-5316-1399 A functional anomaly of T cells. 2012-05-06T10:44:50Z HP:0002844 HP:0005354 HP:0005373 HP:0005383 HP:0005402 HP:0005409 HP:0005435 UMLS:C4023166 Abnormality of T cell physiology Impaired T cell function human_phenotype HP:0011840 Abnormal T cell physiology HP:0011840 A functional anomaly of T cells. https://orcid.org/0000-0002-0736-9199 Impaired T cell function A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. 2012-05-06T06:46:54Z SNOMEDCT_US:111288001 UMLS:C0152173 human_phenotype HP:0011841 If untreated, ventricular flutter typically progresses to ventricular fibrillation. Ventricular flutter HP:0011841 A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. https://orcid.org/0000-0002-0736-9199 An abnormality of the form, structure, or size of the skeletal system. 2012-05-07T08:08:37Z UMLS:C4023165 Abnormality of skeletal morphology Abnormally shaped skeletal human_phenotype HP:0011842 Abnormal skeletal morphology HP:0011842 An abnormality of the form, structure, or size of the skeletal system. https://orcid.org/0000-0002-0736-9199 Abnormally shaped skeletal https://orcid.org/0000-0001-5208-3432 An abnormality of the function of the skeletal system. 2012-05-07T08:09:43Z UMLS:C4023164 Abnormality of musculoskeletal physiology human_phenotype HP:0011843 Abnormal musculoskeletal physiology HP:0011843 An abnormality of the function of the skeletal system. https://orcid.org/0000-0002-0736-9199 An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. 2012-05-07T08:12:26Z UMLS:C4023163 human_phenotype HP:0011844 Abnormal appendicular skeleton morphology HP:0011844 An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. https://orcid.org/0000-0002-0736-9199 Short (hypoplastic) second metatarsal bone. 2012-05-08T07:36:00Z UMLS:C4023162 Short 2nd long bone of foot human_phenotype HP:0011845 Short second metatarsal HP:0011845 Short (hypoplastic) second metatarsal bone. https://orcid.org/0000-0002-0736-9199 Short 2nd long bone of foot https://orcid.org/0000-0001-5208-3432 A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. 2012-05-09T08:34:41Z SNOMEDCT_US:55333008 UMLS:C0029417 human_phenotype HP:0011846 Osteoblastoma HP:0011846 A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue. https://orcid.org/0000-0002-0736-9199 A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. 2012-05-09T08:35:52Z SNOMEDCT_US:57500000 SNOMEDCT_US:697970009 UMLS:C0206638 Giant cell tumour of bone human_phenotype HP:0011847 Giant cell tumor of bone HP:0011847 A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. https://orcid.org/0000-0002-0736-9199 Giant cell tumour of bone A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. 2012-05-12T07:17:45Z SNOMEDCT_US:9991008 UMLS:C0232488 human_phenotype HP:0011848 Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system. Abdominal colic HP:0011848 Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. 2012-05-15T07:39:58Z MP:0008271 UMLS:C4023161 UMLS:C4280317 human_phenotype Abnormal bone maturation HP:0011849 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. Abnormal bone ossification HP:0011849 Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. PMID:18157903 https://orcid.org/0000-0002-0736-9199 MP:0008271 Abnormal bone ossification Abnormal bone maturation https://orcid.org/0000-0001-5208-3432 Inflammation of the parotid gland. 2012-05-21T10:33:44Z SNOMEDCT_US:14756005 UMLS:C0030583 human_phenotype HP:0011850 Parotitis HP:0011850 Inflammation of the parotid gland. https://orcid.org/0000-0002-0736-9199 Accumulation of blood within the pericardial sac. 2012-05-21T10:43:03Z SNOMEDCT_US:23412002 UMLS:C0019064 human_phenotype HP:0011851 Hemopericardium HP:0011851 Accumulation of blood within the pericardial sac. PMID:10882282 https://orcid.org/0000-0002-0736-9199 Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. 2012-05-21T10:44:29Z SNOMEDCT_US:233890005 UMLS:C0242426 human_phenotype HP:0011852 Chylopericardium HP:0011852 Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. https://orcid.org/0000-0002-0736-9199 Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. 2012-05-21T10:49:08Z UMLS:C4023160 human_phenotype HP:0011853 Serous pericardial effusion HP:0011853 Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac. https://orcid.org/0000-0002-0736-9199 Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. 2012-05-21T10:55:34Z SNOMEDCT_US:443826006 SNOMEDCT_US:45626005 UMLS:C0019065 UMLS:C0744735 human_phenotype Hematoperitoneum HP:0011854 Hemoperitoneum HP:0011854 Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. https://orcid.org/0000-0002-0736-9199 Hematoperitoneum https://orcid.org/0000-0001-6908-9849 Abnormal accumulation of fluid leading to swelling of the pharynx. 2012-05-21T11:02:52Z SNOMEDCT_US:2129002 UMLS:C0236024 Pharyngeal oedema Swollen throat Throat swelling human_phenotype HP:0011855 Pharyngeal edema HP:0011855 Abnormal accumulation of fluid leading to swelling of the pharynx. https://orcid.org/0000-0002-0736-9199 Pharyngeal oedema Throat swelling https://orcid.org/0000-0001-5889-4463 An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. 2012-05-21T11:08:54Z SNOMEDCT_US:14077003 UMLS:C0031873 human_phenotype HP:0011856 Pica HP:0011856 An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. https://orcid.org/0000-0002-0736-9199 A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. 2012-05-21T11:34:44Z SNOMEDCT_US:10639003 SNOMEDCT_US:415112005 UMLS:C0032131 human_phenotype HP:0011857 Plasmacytoma often generalizes to multiple myeloma over the course of several years. Plasmacytoma HP:0011857 A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location. https://orcid.org/0000-0002-0736-9199 Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. 2012-05-26T11:35:57Z UMLS:C4023159 Low factor IX activity human_phenotype HP:0011858 Severe deficiency of factor IX underlies hemophilia B. Reduced factor IX activity HP:0011858 Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. https://orcid.org/0000-0002-0736-9199 A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. 2012-05-21T12:18:03Z SNOMEDCT_US:416300008 UMLS:C1562761 human_phenotype HP:0011859 Punctate keratitis HP:0011859 A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. https://orcid.org/0000-0002-0736-9199 The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. 2012-05-26T04:09:07Z UMLS:C4020907 Dappled metaphyseal sclerosis human_phenotype HP:0011860 This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. Metaphyseal dappling HP:0011860 The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. https://orcid.org/0000-0002-0736-9199 Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. 2012-05-27T01:09:21Z SNOMEDCT_US:448648001 UMLS:C3164377 Bilateral trilobed lungs human_phenotype HP:0011861 Bilateral trilobed lung HP:0011861 Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. https://orcid.org/0000-0002-0736-9199 Bilateral trilobed lungs Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. 2012-05-27T01:32:04Z UMLS:C4023158 human_phenotype HP:0011862 Abnormal bone collagen fibril morphology HP:0011862 Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity. MP:0011642 https://orcid.org/0000-0002-0736-9199 Any anomaly in the formation of the bony substance of the sternum. 2012-05-27T04:08:55Z HP:0006624 UMLS:C1860243 Abnormal maturation of breastbone Sternal ossification center abnormalities Sternal ossification centre abnormalities human_phenotype HP:0011863 The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. Abnormal sternal ossification HP:0011863 Any anomaly in the formation of the bony substance of the sternum. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of breastbone https://orcid.org/0000-0001-5208-3432 Sternal ossification centre abnormalities An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. 2012-05-28T06:05:24Z UMLS:C4023157 human_phenotype HP:0011864 Elevated plasma pyrophosphate HP:0011864 An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. https://orcid.org/0000-0002-0736-9199 true HP:0011865 true HP:0011866 An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. 2012-05-28T07:23:30Z UMLS:C4023156 Abnormality of the wing of the ilium human_phenotype HP:0011867 Abnormal iliac wing morphology HP:0011867 An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. https://orcid.org/0000-0002-0736-9199 Pain in the lower back and hip radiating in the distribution of the sciatic nerve. 2012-05-28T10:34:09Z SNOMEDCT_US:23056005 UMLS:C0036396 human_phenotype HP:0011868 Sciatica HP:0011868 Pain in the lower back and hip radiating in the distribution of the sciatic nerve. PMID:17872935 https://orcid.org/0000-0002-0736-9199 Any anomaly in the function of thrombocytes. 2012-05-30T05:32:11Z UMLS:C0855740 human_phenotype HP:0011869 Abnormal platelet function HP:0011869 Any anomaly in the function of thrombocytes. https://orcid.org/0000-0002-0736-9199 Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. 2012-05-30T05:37:07Z UMLS:C4023155 human_phenotype HP:0011870 Impaired arachidonic acid-induced platelet aggregation HP:0011870 Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. https://orcid.org/0000-0002-7744-1790 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. 2012-05-30T05:39:52Z UMLS:C4023154 human_phenotype HP:0011871 Impaired ristocetin-induced platelet aggregation HP:0011871 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. https://orcid.org/0000-0002-7744-1790 Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). 2012-05-30T05:41:52Z UMLS:C4023153 human_phenotype HP:0011872 Impaired thrombin-induced platelet aggregation HP:0011872 Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). https://orcid.org/0000-0002-7744-1790 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. 2012-05-30T08:11:13Z SNOMEDCT_US:165558001 UMLS:C0580317 human_phenotype HP:0011873 Abnormal platelet count HP:0011873 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. https://orcid.org/0000-0002-4381-2442 Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. 2012-05-30T08:31:16Z SNOMEDCT_US:73397007 UMLS:C0272285 human_phenotype HP:0011874 A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. Heparin-induced thrombocytopenia HP:0011874 Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin. PMID:16928996 https://orcid.org/0000-0002-0736-9199 An anomaly in platelet form, ultrastructure, or intracellular organelles. 2012-05-31T03:43:59Z UMLS:C0855742 Abnormal shape of platelets human_phenotype HP:0011875 Abnormal platelet morphology HP:0011875 An anomaly in platelet form, ultrastructure, or intracellular organelles. https://orcid.org/0000-0002-4381-2442 Abnormal shape of platelets https://orcid.org/0000-0001-5208-3432 Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. 2012-05-31T03:46:13Z UMLS:C4023152 human_phenotype HP:0011876 Abnormal platelet volume HP:0011876 Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. https://orcid.org/0000-0002-0736-9199 Average platelet volume above the upper limit of the normal reference interval. 2012-05-31T03:58:17Z UMLS:C1096367 Large platelets human_phenotype HP:0011877 Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). Increased mean platelet volume HP:0011877 Average platelet volume above the upper limit of the normal reference interval. https://orcid.org/0000-0002-7744-1790 Large platelets Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. 2012-05-31T04:00:21Z UMLS:C4023151 human_phenotype HP:0011878 Abnormal platelet membrane protein expression HP:0011878 Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry. https://orcid.org/0000-0002-7744-1790 Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. 2012-05-31T04:01:34Z UMLS:C4023150 human_phenotype HP:0011879 The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. Decreased platelet glycoprotein Ib-IX-V HP:0011879 Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. PMID:10605725 https://orcid.org/0000-0002-7744-1790 An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. 2012-06-02T04:49:50Z UMLS:C4023149 human_phenotype HP:0011880 Acute disseminated intravascular coagulation HP:0011880 An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed. https://orcid.org/0000-0002-0736-9199 Decreased cell membrane concentration of glycoprotein VI. 2012-06-02T09:17:33Z UMLS:C4023148 human_phenotype HP:0011881 The glycoprotein VI is a glycoprotein receptor for collagen. Decreased platelet glycoprotein VI HP:0011881 Decreased cell membrane concentration of glycoprotein VI. https://orcid.org/0000-0002-7744-1790 Decreased cell membrane concentration of P2Y12 receptor. 2012-06-02T09:18:58Z UMLS:C4023147 human_phenotype HP:0011882 The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. Decreased platelet P2Y12 receptor HP:0011882 Decreased cell membrane concentration of P2Y12 receptor. PMID:14755328 https://orcid.org/0000-0002-7744-1790 An anomaly of alpha or dense granules or platelet lysosomes. 2012-06-02T09:47:57Z UMLS:C4023146 human_phenotype HP:0011883 Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. Abnormal platelet granules HP:0011883 An anomaly of alpha or dense granules or platelet lysosomes. PMID:18041654 https://orcid.org/0000-0002-7744-1790 Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. 2012-06-02T10:25:45Z UMLS:C4023145 human_phenotype HP:0011884 Abnormal umbilical stump bleeding HP:0011884 Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. https://orcid.org/0000-0003-2945-4463 Bleeding from vessels of the various tissues of the eye. 2012-06-02T10:44:39Z SNOMEDCT_US:417244000 SNOMEDCT_US:93478000 UMLS:C0015402 Bleeding from the eye Haemorrhage of the eye human_phenotype HP:0011885 Hemorrhage of the eye HP:0011885 Bleeding from vessels of the various tissues of the eye. https://orcid.org/0000-0003-2945-4463 Bleeding from the eye https://orcid.org/0000-0001-5208-3432 Haemorrhage of the eye Bleeding in the anterior chamber of the eye. 2012-06-02T10:49:36Z SNOMEDCT_US:75229002 UMLS:C0020581 human_phenotype HP:0011886 Hyphema HP:0011886 Bleeding in the anterior chamber of the eye. https://orcid.org/0000-0002-0736-9199 Hemorrhage from the vessels of the choroid. 2012-06-02T10:50:39Z SNOMEDCT_US:122003 UMLS:C0008522 Choroid haemorrhage Choroidal haemorrhage Choroidal hemorrhage human_phenotype HP:0011887 Choroid hemorrhage HP:0011887 Hemorrhage from the vessels of the choroid. https://orcid.org/0000-0002-0736-9199 Choroid haemorrhage Choroidal haemorrhage Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). 2012-06-02T11:31:44Z UMLS:C4023144 Bleeding requiring red cell transfusion human_phenotype HP:0011888 Bleeding requiring red cell transfusion HP:0011888 Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). https://orcid.org/0000-0003-2945-4463 Bleeding requiring red cell transfusion Significant bleeding or hemorrhage without significant precipitating factor. 2012-06-02T11:32:13Z UMLS:C4023143 Bleeding with minor or no trauma Easy bleeding human_phenotype HP:0011889 Bleeding with minor or no trauma HP:0011889 Significant bleeding or hemorrhage without significant precipitating factor. https://orcid.org/0000-0002-4381-2442 Bleeding with minor or no trauma Easy bleeding Prolonged or protracted bleeding following an invasive procedure or intervention. 2012-06-02T11:33:38Z UMLS:C4023142 Prolonged bleeding following procedure human_phenotype HP:0011890 Prolonged bleeding following procedure HP:0011890 Prolonged or protracted bleeding following an invasive procedure or intervention. https://orcid.org/0000-0003-2945-4463 Prolonged bleeding following procedure Significant maternal hemorrhage/blood loss following deilvery of a child. 2012-06-02T11:35:46Z SNOMEDCT_US:47821001 UMLS:C0032797 Bleeding post-delivery Post-partum hemorrhage human_phenotype HP:0011891 Post-partum hemorrhage HP:0011891 Significant maternal hemorrhage/blood loss following deilvery of a child. https://orcid.org/0000-0003-2945-4463 Bleeding post-delivery https://orcid.org/0000-0001-5208-3432 The concentration of vitamin K in the blood circulation is below the lower limit of normal. 2012-06-02T05:21:14Z SNOMEDCT_US:52675005 UMLS:C0042880 Low levels of vitamin K human_phenotype HP:0011892 Decreased circulating vitamin K concentration HP:0011892 Number of leukocytes per volume of blood beyond normal limits. 2012-06-02T05:32:39Z SNOMEDCT_US:165509000 UMLS:C0580531 Abnormal white blood cell count human_phenotype HP:0011893 Abnormal leukocyte count HP:0011893 Number of leukocytes per volume of blood beyond normal limits. https://orcid.org/0000-0002-0736-9199 Abnormal white blood cell count https://orcid.org/0000-0001-6908-9849 Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. 2012-06-03T08:51:33Z UMLS:C4023141 human_phenotype HP:0011894 Impaired thromboxane A2 agonist-induced platelet aggregation HP:0011894 Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. https://orcid.org/0000-0002-7744-1790 A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. 2012-06-03T09:26:17Z UMLS:C4021112 Anaemia due to reduced life span of red cells human_phenotype HP:0011895 Anemia due to reduced life span of red cells HP:0011895 A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. https://orcid.org/0000-0003-2945-4463 Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. 2012-06-03T03:11:41Z SNOMEDCT_US:78768009 UMLS:C0038534 Subconjunctival haemorrhage human_phenotype HP:0011896 Subconjunctival hemorrhage HP:0011896 Bleeding beneath the mucous membrane that lines the inner surface of the eyelid. https://orcid.org/0000-0003-2945-4463 Subconjunctival haemorrhage Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. 2012-06-03T03:16:43Z UMLS:C4023140 Increased blood neutrophil counts Neutrophilia human_phenotype HP:0011897 Increased total neutrophil count HP:0011897 Abnormal increase of absolute number of neutrophils in the blood, per microliter, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0003-2945-4463 Increased blood neutrophil counts https://orcid.org/0000-0001-5208-3432 An abnormality of the level of activity of circulating fibrinogen. 2012-06-03T03:35:43Z UMLS:C4023139 human_phenotype HP:0011898 Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. Abnormality of circulating fibrinogen HP:0011898 An abnormality of the level of activity of circulating fibrinogen. https://orcid.org/0000-0003-2945-4463 Increased concentration of fibrinogen in the blood. 2012-06-03T03:38:36Z SNOMEDCT_US:439000005 UMLS:C0919890 human_phenotype HP:0011899 Hyperfibrinogenemia HP:0011899 Increased concentration of fibrinogen in the blood. https://orcid.org/0000-0003-2945-4463 Decreased concentration of fibrinogen in the blood. 2012-06-03T03:39:47Z SNOMEDCT_US:234457009 UMLS:C0553681 Low fibrinogen activity Low fibrinogen level human_phenotype HP:0011900 Hypofibrinogenemia HP:0011900 Decreased concentration of fibrinogen in the blood. https://orcid.org/0000-0002-0736-9199 Qualitatively abnormal fibrinogen. 2012-06-03T03:40:21Z SNOMEDCT_US:111589005 UMLS:C1260903 Dysfibrinogenaemia human_phenotype HP:0011901 Dysfibrinogenemia HP:0011901 Qualitatively abnormal fibrinogen. https://orcid.org/0000-0003-2945-4463 Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. 2012-06-03T03:53:23Z UMLS:C0349705 Abnormal Hb Abnormal haemoglobin human_phenotype HP:0011902 Abnormal hemoglobin HP:0011902 Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. https://orcid.org/0000-0002-0736-9199 Abnormal Hb Abnormal haemoglobin Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. 2012-06-03T04:59:15Z SNOMEDCT_US:48553001 UMLS:C3161174 Haemoglobin H HbH haemoglobin Hemoglobin H human_phenotype HP:0011903 HbH hemoglobin HP:0011903 Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. PMID:21345100 https://orcid.org/0000-0002-0736-9199 Haemoglobin H HbH haemoglobin Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. 2012-06-03T05:03:00Z UMLS:C0239941 Increased haemoglobin F Increased hemoglobin F Persistence of HbF Persistence of haemoglobin F human_phenotype HP:0011904 Persistence of hemoglobin F HP:0011904 Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. https://orcid.org/0000-0002-0736-9199 Increased haemoglobin F Persistence of HbF Persistence of haemoglobin F Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. 2012-06-03T05:07:19Z UMLS:C4023138 Reduced HbA Reduced haemoglobin A human_phenotype HP:0011905 Reduced hemoglobin A HP:0011905 Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. https://orcid.org/0000-0002-0736-9199 Reduced HbA Reduced haemoglobin A A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. 2012-06-03T05:41:20Z UMLS:C4023137 human_phenotype HP:0011906 Reduced beta/alpha synthesis ratio HP:0011906 A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. PMID:1060068 https://orcid.org/0000-0002-0736-9199 A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. 2012-06-03T05:43:45Z UMLS:C4023136 human_phenotype HP:0011907 Reduced alpha/beta synthesis ratio HP:0011907 A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. https://orcid.org/0000-0002-0736-9199 Missing radius bone on one side only associated with congenital failure of development. 2012-06-03T06:46:52Z UMLS:C4023135 human_phenotype HP:0011908 Unilateral radial aplasia HP:0011908 Missing radius bone on one side only associated with congenital failure of development. https://orcid.org/0000-0002-0736-9199 Abnormally flat shape of the heads of the metacarpal bones. 2012-06-03T10:23:40Z UMLS:C4023134 Flattened head of long bone of hand human_phenotype HP:0011909 The metacarpal heads articulate with the proximal phalanges of the fingers. Flattened metacarpal heads HP:0011909 Abnormally flat shape of the heads of the metacarpal bones. https://orcid.org/0000-0002-0736-9199 Flattened head of long bone of hand https://orcid.org/0000-0001-5208-3432 Abnormal reduction in length affecting all phalanges. 2012-06-03T10:50:44Z UMLS:C4023133 Shortening of all finger bones human_phenotype HP:0011910 Shortening of all phalanges of fingers HP:0011910 Abnormal reduction in length affecting all phalanges. https://orcid.org/0000-0002-0736-9199 Shortening of all finger bones https://orcid.org/0000-0001-5208-3432 An anomaly of a metacarpophalangeal joint. 2012-06-03T11:03:36Z UMLS:C4023132 Abnormality of metacarpophalangeal joint Abnormality of the knuckle human_phenotype HP:0011911 Abnormal metacarpophalangeal joint morphology HP:0011911 An anomaly of a metacarpophalangeal joint. https://orcid.org/0000-0002-0736-9199 Abnormality of the knuckle An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. 2012-06-05T08:51:23Z UMLS:C4023131 human_phenotype HP:0011912 Abnormality of the glenoid fossa HP:0011912 An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. https://orcid.org/0000-0002-0736-9199 Excessive, increased hair growth located in the lumbar region. 2012-06-05T10:13:10Z UMLS:C4023130 human_phenotype HP:0011913 Lumbar hypertrichosis HP:0011913 Excessive, increased hair growth located in the lumbar region. https://orcid.org/0000-0002-0736-9199 Excessive, increased hair growth located in the thoracic region. 2012-06-05T10:13:14Z UMLS:C4023129 human_phenotype HP:0011914 Thoracic hypertrichosis HP:0011914 Excessive, increased hair growth located in the thoracic region. https://orcid.org/0000-0002-0736-9199 Abnormal calcification in the cardiovascular system. 2012-06-05T10:35:58Z UMLS:C4023128 human_phenotype HP:0011915 Cardiovascular calcification HP:0011915 Abnormal calcification in the cardiovascular system. https://orcid.org/0000-0002-0736-9199 Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. 2012-06-08T06:59:44Z UMLS:C4023127 human_phenotype HP:0011916 Toe extensor amyotrophy HP:0011916 Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. https://orcid.org/0000-0002-0736-9199 Underdevelopment (hypoplasia) of the fifth toe. 2012-06-08T08:25:00Z UMLS:C4021111 Short fifth toe Short little toe Short pinkie toe Short pinky toe human_phenotype HP:0011917 Short 5th toe HP:0011917 Underdevelopment (hypoplasia) of the fifth toe. https://orcid.org/0000-0002-0736-9199 Short little toe https://orcid.org/0000-0001-5208-3432 Short pinkie toe https://orcid.org/0000-0001-5208-3432 Short pinky toe https://orcid.org/0000-0001-5208-3432 Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). 2012-06-08T08:44:27Z Curvature of 4th toe UMLS:C4020740 human_phenotype 4th toe clinodactyly HP:0011918 Clinodactyly of the 4th toe HP:0011918 Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). https://orcid.org/0000-0002-0736-9199 Curvature of 4th toe https://orcid.org/0000-0001-5208-3432 Accumulation of pus in the pleural cavity. 2012-06-08T07:13:41Z SNOMEDCT_US:405950009 SNOMEDCT_US:405951008 SNOMEDCT_US:58554001 UMLS:C0014013 Pyothorax human_phenotype HP:0011919 Pleural empyema HP:0011919 Accumulation of pus in the pleural cavity. https://orcid.org/0000-0002-0736-9199 A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. 2012-06-08T07:31:00Z SNOMEDCT_US:79231000 UMLS:C0020312 human_phenotype HP:0011920 Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. Transudative pleural effusion HP:0011920 A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. HPO_CONTRIBUTOR:DDD_tkuijpers PMID:16623208 https://orcid.org/0000-0002-0736-9199 A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. 2012-06-08T07:35:47Z SNOMEDCT_US:13841000119107 UMLS:C3887491 human_phenotype HP:0011921 Transudates result from pneumonia, malignancy, thromboembolism, and other causes. Exudative pleural effusion HP:0011921 A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH. HPO_CONTRIBUTOR:DDD_tkuijpers PMID:16623208 https://orcid.org/0000-0002-0736-9199 An increased or decreased activity of the mitochondrial respiratory chain. 2012-06-08T08:57:44Z UMLS:C4023126 human_phenotype HP:0011922 Abnormal activity of mitochondrial respiratory chain HP:0011922 An increased or decreased activity of the mitochondrial respiratory chain. https://orcid.org/0000-0002-0736-9199 A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. 2012-06-08T09:02:29Z UMLS:C2677650 UMLS:C4020739 human_phenotype Respiratory complex I deficiency HP:0011923 Decreased activity of mitochondrial complex I HP:0011923 A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. https://orcid.org/0000-0002-0736-9199 A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. 2012-06-08T09:04:26Z UMLS:C3149083 UMLS:C4020738 human_phenotype Respiratory complex III deficiency HP:0011924 Decreased activity of mitochondrial complex III HP:0011924 A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. https://orcid.org/0000-0002-0736-9199 A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. 2012-06-08T09:08:42Z UMLS:C4020737 UMLS:C4023125 Decreased activity of mitochondrial complex V Mitochondrial complex V deficiency human_phenotype Respiratory complex deficiency, ATPase deficiency HP:0011925 Decreased activity of mitochondrial ATP synthase complex HP:0011925 A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. https://orcid.org/0000-0002-0736-9199 Proximal mislocalization of the big toe from its normal position. 2012-06-09T03:29:59Z UMLS:C4021110 Proximal placement of big toe Proximally placed halluces human_phenotype HP:0011926 Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. Proximal placement of hallux HP:0011926 Proximal mislocalization of the big toe from its normal position. https://orcid.org/0000-0002-0736-9199 Proximally placed halluces One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. 2012-06-10T09:18:42Z UMLS:C1860176 UMLS:C4023124 Short digit human_phenotype Very short digits HP:0011927 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. Short digit HP:0011927 One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. https://orcid.org/0000-0002-0736-9199 Short digit Very short digits https://orcid.org/0000-0002-5316-1399 Developmental hypoplasia (shortening) of proximal phalanx of toe. 2012-06-10T10:06:30Z UMLS:C4023123 Short innermost toe bone human_phenotype HP:0011928 Short proximal phalanx of toe HP:0011928 Developmental hypoplasia (shortening) of proximal phalanx of toe. https://orcid.org/0000-0002-0736-9199 Short innermost toe bone https://orcid.org/0000-0001-5208-3432 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. 2012-06-10T10:49:28Z UMLS:C4023122 human_phenotype HP:0011929 This anomaly is characteristic for brachydactyly type C. Hypersegmentation of proximal phalanx of third finger HP:0011929 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. https://orcid.org/0000-0002-0736-9199 2012-06-10T11:37:14Z UMLS:C4021836 Hyperelastic chest skin Stretchable chest skin human_phenotype HP:0011930 Hyperextensible skin of chest HP:0011930 Hyperelastic chest skin https://orcid.org/0000-0001-5208-3432 Stretchable chest skin https://orcid.org/0000-0001-5208-3432 An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. 2012-06-10T01:02:57Z UMLS:C4023121 Abnormality of the cerebellar peduncle human_phenotype HP:0011931 Abnormal cerebellar peduncle morphology HP:0011931 An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. https://orcid.org/0000-0002-0736-9199 An anomaly of the superior cerebellar peduncle. 2012-06-10T01:26:47Z UMLS:C4023120 Abnormality of the superior cerebellar peduncle human_phenotype HP:0011932 Abnormal superior cerebellar peduncle morphology HP:0011932 An anomaly of the superior cerebellar peduncle. https://orcid.org/0000-0002-0736-9199 Increased length of the superior cerebellar peduncle. 2012-06-10T01:31:13Z UMLS:C3810214 UMLS:C4021109 Long cerebellar peduncle Long cerebellar peduncles human_phenotype Elongated superior cerebellar peduncles HP:0011933 Elongated superior cerebellar peduncle HP:0011933 Increased length of the superior cerebellar peduncle. https://orcid.org/0000-0002-0736-9199 Long cerebellar peduncle https://orcid.org/0000-0002-5316-1399 Elongated superior cerebellar peduncles https://orcid.org/0000-0002-5316-1399 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . 2012-06-10T01:48:30Z UMLS:C4023119 Mesenteric artery aneurysm human_phenotype HP:0011934 Aneurysm is considered a severe form of dilatation. Dilatation of mesenteric artery HP:0011934 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . https://orcid.org/0000-0002-0736-9199 Decreased concentration of urate in the urine. 2012-06-10T02:19:49Z UMLS:C4023118 human_phenotype HP:0011935 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. Decreased urinary urate HP:0011935 Decreased concentration of urate in the urine. https://orcid.org/0000-0002-0736-9199 A decreased concentration of total carnitine in the blood. 2012-06-10T04:20:17Z UMLS:C4023117 Decreased plasma total carnitine human_phenotype HP:0011936 Decreased plasma total carnitine HP:0011936 A decreased concentration of total carnitine in the blood. https://orcid.org/0000-0002-0736-9199 Decreased plasma total carnitine Underdeveloped nails of the fifth toes. 2012-06-10T04:27:42Z UMLS:C4023116 Small fifth toenail Underdeveloped fifth toenail human_phenotype HP:0011937 Hypoplastic fifth toenail HP:0011937 Underdeveloped nails of the fifth toes. https://orcid.org/0000-0002-0736-9199 Small fifth toenail https://orcid.org/0000-0001-5208-3432 Underdeveloped fifth toenail https://orcid.org/0000-0001-5208-3432 true HP:0011938 A soft tissue continuity in the A/P axis between fingers 3 and 4. 2012-06-10T05:13:51Z UMLS:C4023115 human_phenotype HP:0011939 3-4 finger cutaneous syndactyly HP:0011939 A soft tissue continuity in the A/P axis between fingers 3 and 4. https://orcid.org/0000-0002-0736-9199 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). 2012-06-10T06:07:54Z UMLS:C4021108 Anterior wedging of the 12th thoracic vertebra Wedge-shaped 12th thoracic vertebra human_phenotype HP:0011940 Anterior wedging of T12 HP:0011940 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). https://orcid.org/0000-0002-0736-9199 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). 2012-06-10T06:10:08Z UMLS:C4023114 human_phenotype HP:0011941 Anterior wedging of L2 HP:0011941 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). https://orcid.org/0000-0002-0736-9199 The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal. 2012-06-11T07:36:01Z UMLS:C1848957 human_phenotype HP:0011942 Increased urinary sulfite level HP:0011942 The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 Increased concentration of thiosulfate(2-) in the urine. 2012-06-11T07:37:29Z UMLS:C3148695 human_phenotype HP:0011943 Increased urinary thiosulfate HP:0011943 Increased concentration of thiosulfate(2-) in the urine. https://orcid.org/0000-0002-0736-9199 A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. 2012-06-11T07:58:21Z UMLS:C4023113 human_phenotype HP:0011944 Small vessel vasculitis HP:0011944 A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. PMID:9366584 https://orcid.org/0000-0002-0736-9199 Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. 2012-06-18T07:55:41Z SNOMEDCT_US:129458007 UMLS:C0242770 BOOP Bronchiolitis obliterans organising pneumonia Cryptogenic organising pneumonia Cryptogenic organizing pneumonia human_phenotype HP:0011945 Bronchiolitis obliterans organizing pneumonia HP:0011945 Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. HPO_CONTRIBUTOR:DDD_tkuijpers PMID:20858818 https://orcid.org/0000-0002-0736-9199 BOOP Bronchiolitis obliterans organising pneumonia Cryptogenic organising pneumonia Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. 2012-06-21T08:20:58Z SNOMEDCT_US:40100001 UMLS:C0006272 UMLS:C2350875 Constrictive bronchiolitis Obliterative bronchiolitis human_phenotype HP:0011946 Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. Bronchiolitis obliterans HP:0011946 Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. https://orcid.org/0000-0002-0736-9199 An infection of the upper or lower respiratory tract. 2012-06-21T08:26:36Z SNOMEDCT_US:275498002 UMLS:C0035243 Respiratory infection Respiratory tract infection human_phenotype Respiratory infections HP:0011947 Respiratory tract infection HP:0011947 An infection of the upper or lower respiratory tract. https://orcid.org/0000-0002-0736-9199 Respiratory infection Respiratory tract infection Respiratory infections https://orcid.org/0000-0002-5316-1399 A history of repeated acute infections of the upper or lower respiratory tract. 2012-06-21T08:30:15Z UMLS:C1442786 Acute respiratory tract infection human_phenotype HP:0011948 Recurrent acute respiratory tract infection HP:0011948 A history of repeated acute infections of the upper or lower respiratory tract. HPO_CONTRIBUTOR:DDD_tkuijpers Acute respiratory tract infection Acute inflammation of the lung due to an infection. 2012-06-21T08:33:30Z UMLS:C4023112 human_phenotype HP:0011949 Acute infectious pneumonia HP:0011949 Acute inflammation of the lung due to an infection. HPO_CONTRIBUTOR:DDD_tkuijpers Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis. 2012-06-21T08:36:11Z SNOMEDCT_US:4120002 UMLS:C0006271 human_phenotype HP:0011950 Unusual bronchiolitis HP:0011950 Increased susceptibility to bronchiolitis (inflammation of the bronchioles) as manifested by recurrent or severe epsiodes of bronchiolitis. HPO_CONTRIBUTOR:DDD_tkuijpers Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. 2012-06-21T08:40:03Z SNOMEDCT_US:422588002 UMLS:C0032290 human_phenotype HP:0011951 Aspiration pneumonia HP:0011951 Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. https://orcid.org/0000-0002-0736-9199 An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. 2012-06-21T08:42:03Z SNOMEDCT_US:35031000119100 UMLS:C4023111 human_phenotype HP:0011952 Acute aspiration pneumonia HP:0011952 An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. https://orcid.org/0000-0002-0736-9199 Lung parenchymal involvement with lymphoma. 2012-06-21T08:45:48Z UMLS:C0519063 human_phenotype HP:0011953 Pulmonary lymphoma HP:0011953 Lung parenchymal involvement with lymphoma. HPO_CONTRIBUTOR:DDD_tkuijpers Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. 2012-06-21T09:06:10Z SNOMEDCT_US:65860006 SNOMEDCT_US:715140008 UMLS:C1318485 Nodular transformation of liver Noncirrhotic nodulation Partial nodular transformation of liver human_phenotype HP:0011954 Nodular regenerative hyperplasia of liver HP:0011954 Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. PMID:21472097 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. 2012-06-21T09:11:32Z UMLS:C4023110 human_phenotype HP:0011955 Hepatic granulomatosis HP:0011955 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. https://orcid.org/0000-0002-0736-9199 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. 2012-06-21T09:27:07Z UMLS:C4023109 human_phenotype HP:0011956 Intestinal lymphoid nodular hyperplasia HP:0011956 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine. PMID:21481240 https://orcid.org/0000-0002-0736-9199 An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. 2012-06-22T08:06:04Z UMLS:C4023108 Abnormal pec muscles human_phenotype HP:0011957 Abnormal pectoral muscle morphology HP:0011957 An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major. https://orcid.org/0000-0002-0736-9199 Abnormal pec muscles https://orcid.org/0000-0001-5208-3432 A hole through the whole thickness of the retina, associated with trauma. 2012-07-07T11:24:39Z SNOMEDCT_US:232003005 SNOMEDCT_US:302888003 SNOMEDCT_US:40024006 SNOMEDCT_US:95690009 UMLS:C0035321 Retinal tear Torn retina human_phenotype HP:0011958 Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. Retinal perforation HP:0011958 A hole through the whole thickness of the retina, associated with trauma. https://orcid.org/0000-0002-0736-9199 Retinal tear https://orcid.org/0000-0001-5208-3432 Torn retina https://orcid.org/0000-0001-5208-3432 Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. 2012-06-22T08:13:12Z UMLS:C4023107 Small pec muscle on one side Underdeveloped pec muscle on one side human_phenotype HP:0011959 Unilateral hypoplasia of pectoralis major muscle HP:0011959 Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest. https://orcid.org/0000-0002-0736-9199 Small pec muscle on one side https://orcid.org/0000-0001-5208-3432 Underdeveloped pec muscle on one side https://orcid.org/0000-0001-5208-3432 Focal proliferation of glial cells in the substantia nigra. 2012-07-16T11:50:42Z UMLS:C1846865 human_phenotype HP:0011960 Substantia nigra gliosis HP:0011960 Focal proliferation of glial cells in the substantia nigra. https://orcid.org/0000-0002-0736-9199 Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. 2012-07-16T12:22:54Z UMLS:C4021107 Testicular azoospermia human_phenotype HP:0011961 Non-obstructive azoospermia HP:0011961 Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. PMID:20514278 https://orcid.org/0000-0002-0736-9199 Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. 2012-07-16T12:25:35Z UMLS:C4023106 human_phenotype HP:0011962 Obstructive azoospermia HP:0011962 Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. PMID:20514278 https://orcid.org/0000-0002-0736-9199 Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. 2012-07-16T12:28:55Z UMLS:C4023105 human_phenotype HP:0011963 Pretesticular azoospermia HP:0011963 Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels. PMID:20514278 https://orcid.org/0000-0002-0736-9199 History of repeated intermittent involuntary muscle contractions that were painful. 2012-07-16T01:17:16Z UMLS:C4023104 human_phenotype HP:0011964 Intermittent painful muscle spasms HP:0011964 History of repeated intermittent involuntary muscle contractions that were painful. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of citrulline in the blood circulation. 2012-07-18T08:21:59Z UMLS:C4023103 human_phenotype HP:0011965 Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. Abnormal circulating citrulline concentration HP:0011965 Any deviation from the normal concentration of citrulline in the blood circulation. https://orcid.org/0000-0002-0736-9199 An increased concentration of citrulline in the blood. 2012-07-18T08:23:22Z UMLS:C4023102 human_phenotype HP:0011966 Elevated plasma citrulline HP:0011966 An increased concentration of citrulline in the blood. https://orcid.org/0000-0002-0736-9199 The concentration of copper cation in the blood circulation is below the lower limit of normal. 2012-07-18T08:29:13Z SNOMEDCT_US:19577007 UMLS:C0268070 Copper deficiency Decreased circulating copper concentration Decreased copper cation concentration Decreased copper cation level Decreased copper cation level in blood Hypocupremia Reduced copper cation concentration Reduced copper cation level Reduced copper cation level in blood Reduced serum copper human_phenotype HP:0011967 Decreased circulating copper concentration HP:0011967 Copper deficiency https://orcid.org/0000-0001-5208-3432 Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. 2012-07-18T10:25:05Z SNOMEDCT_US:78164000 UMLS:C0232466 Decreased oral intake Feeding difficulties Feeding problems Poor feeding human_phenotype HP:0011968 Difficulties with eating and drinking, resulting in decreased oral nutrition Feeding difficulties HP:0011968 Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. PMID:34006516 https://orcid.org/0000-0002-6647-5493 Feeding difficulties Feeding problems Poor feeding An elevated concentration of luteinizing hormone in the blood. 2012-07-18T08:36:09Z HP:0030343 UMLS:C4023101 Elevated LH level Elevated luteinizing hormone Increased circulating luteinizing hormone level human_phenotype HP:0011969 Elevated circulating luteinizing hormone level HP:0011969 An elevated concentration of luteinizing hormone in the blood. https://orcid.org/0000-0002-0736-9199 Elevated LH level Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. 2012-07-18T08:39:48Z SNOMEDCT_US:230724001 UMLS:C0085220 human_phenotype HP:0011970 Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression. Cerebral amyloid angiopathy HP:0011970 Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. PMID:21519520 https://orcid.org/0000-0002-0736-9199 An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). 2012-07-18T08:42:25Z SNOMEDCT_US:402410006 SNOMEDCT_US:402601007 SNOMEDCT_US:7632005 UMLS:C0343065 Dermatographism Dermographism Skin writing human_phenotype HP:0011971 Dermatographic urticaria HP:0011971 An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). https://orcid.org/0000-0002-0736-9199 Skin writing Abnormally low glucose concentration in the cerebrospinal fluid. 2012-07-18T08:45:55Z UMLS:C0598121 Decreased CSF glucose Low glucose levels in cerebral spinal fluid human_phenotype HP:0011972 Hypoglycorrhachia HP:0011972 Abnormally low glucose concentration in the cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Low glucose levels in cerebral spinal fluid https://orcid.org/0000-0001-5208-3432 Repeated episodes of sudden-onset and transient lethargy. 2012-07-18T08:48:06Z UMLS:C1847507 Intermittent lack of energy human_phenotype HP:0011973 Paroxysmal lethargy HP:0011973 Replacement of bone marrow by fibrous tissue. 2012-07-18T08:51:57Z SNOMEDCT_US:52967002 UMLS:C0026987 human_phenotype HP:0011974 Myelofibrosis HP:0011974 Replacement of bone marrow by fibrous tissue. https://orcid.org/0000-0002-0736-9199 Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. 2012-07-18T08:55:03Z UMLS:C4023100 human_phenotype HP:0011975 The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. Aminoglycoside-induced hearing loss HP:0011975 Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. PMID:2669624 https://orcid.org/0000-0002-0736-9199 The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. 2012-07-18T09:07:22Z UMLS:C0241577 Elevated urinary catecholamines human_phenotype HP:0011976 Elevated urinary catecholamine level HP:0011976 The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 Elevated urinary catecholamines An increased concentration of homovanillic acid in the urine. 2012-07-18T09:10:06Z UMLS:C4020736 human_phenotype Increased urinary homovanillic acid HP:0011977 Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Increased levels of catecholamines or catecholamine metabolites, including dopamine, homovanillic acid (HVA) and/or vanillylmandelic acid (VMA), can be detected in the urine of 90% of all patients with neuroblastoma. Elevated urinary homovanillic acid HP:0011977 An increased concentration of homovanillic acid in the urine. PMID:27830764 https://orcid.org/0000-0002-0736-9199 An increased concentration of vanillylmandelic acid in the urine. 2012-07-18T09:11:52Z UMLS:C4020735 human_phenotype Increased urinary vanillylmandelic acid HP:0011978 Elevated urinary vanillylmandelic acid HP:0011978 An increased concentration of vanillylmandelic acid in the urine. https://orcid.org/0000-0002-0736-9199 The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. 2012-07-18T09:13:16Z UMLS:C4023099 Elevated urinary dopamine human_phenotype HP:0011979 Elevated urinary dopamine level HP:0011979 The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. https://orcid.org/0000-0002-0736-9199 Elevated urinary dopamine Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. 2012-07-18T09:16:15Z UMLS:C0856727 human_phenotype HP:0011980 Cholesterol gallstones HP:0011980 Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. PMID:12950109 PMID:16844493 https://orcid.org/0000-0002-0736-9199 Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. 2012-07-18T09:18:44Z UMLS:C3278865 human_phenotype HP:0011981 Pigment gallstones HP:0011981 Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. PMID:12950109 https://orcid.org/0000-0002-0736-9199 A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. 2012-07-18T09:25:05Z UMLS:C4023098 human_phenotype HP:0011982 Black pigment gallstones HP:0011982 A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates. PMID:12950109 https://orcid.org/0000-0002-0736-9199 A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. 2012-07-18T09:26:55Z UMLS:C4023097 human_phenotype HP:0011983 Brown pigment gallstones HP:0011983 A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones. PMID:12950109 https://orcid.org/0000-0002-0736-9199 Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. 2012-07-19T10:26:35Z UMLS:C3277945 Gallbladder atresia human_phenotype HP:0011984 Atretic gallbladder HP:0011984 Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia. https://orcid.org/0000-0002-0736-9199 Clay colored stools lacking bile pigment. 2012-07-19T10:31:22Z HP:0200112 SNOMEDCT_US:70396004 UMLS:C2675627 Acholia Clay colored stools Clay coloured stools Discolored, acholic stools human_phenotype HP:0011985 Acholic stools HP:0011985 Clay colored stools lacking bile pigment. https://orcid.org/0000-0002-0736-9199 Clay colored stools https://orcid.org/0000-0001-5208-3432 Clay coloured stools Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. 2012-07-19T10:38:25Z MEDDRA:10065453 SNOMEDCT_US:128491006 UMLS:C0029396 Ectopic bone formation Heterotopic ossification human_phenotype HP:0011986 Ectopic ossification HP:0011986 Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. https://orcid.org/0000-0002-0736-9199 MEDDRA:10065453 Ectopic ossification Formation of abnormal bony tissue within muscle tissue. 2012-07-19T10:46:03Z UMLS:C4023096 Calcification of muscle tissue human_phenotype HP:0011987 Ectopic ossification in muscle tissue HP:0011987 Formation of abnormal bony tissue within muscle tissue. https://orcid.org/0000-0002-0736-9199 Calcification of muscle tissue https://orcid.org/0000-0001-5208-3432 Formation of abnormal bony tissue within tendon tissue. 2012-07-19T10:47:01Z UMLS:C4023095 human_phenotype HP:0011988 Ectopic ossification in tendon tissue HP:0011988 Formation of abnormal bony tissue within tendon tissue. https://orcid.org/0000-0002-0736-9199 Formation of abnormal bony tissue within ligament tissue. 2012-07-19T10:48:31Z UMLS:C4023094 human_phenotype HP:0011989 Ectopic ossification in ligament tissue HP:0011989 Formation of abnormal bony tissue within ligament tissue. https://orcid.org/0000-0002-0736-9199 Any functional abnormality of neutrophils. 2012-07-19T10:56:37Z UMLS:C4023093 Abnormality of neutrophil physiology human_phenotype HP:0011990 Abnormal response of granulocytes to stimuli. Abnormal neutrophil physiology HP:0011990 Any functional abnormality of neutrophils. https://orcid.org/0000-0002-0736-9199 A deviation from the normal range of neutrophil cell counts in the circulation. 2012-07-19T10:59:14Z UMLS:C4023092 Abnormal neutrophil cell number Abnormal neutrophil count human_phenotype HP:0011991 Abnormal total neutrophil count HP:0011991 A deviation from the normal range of neutrophil cell counts in the circulation. https://orcid.org/0000-0002-0736-9199 An abnormal form or size of neutrophils. 2012-07-19T11:00:27Z UMLS:C4023091 Abnormality of neutrophil morphology human_phenotype HP:0011992 Abnormal neutrophil morphology HP:0011992 An abnormal form or size of neutrophils. https://orcid.org/0000-0002-0736-9199 A reduction in the ability of neutrophils to kill bacteria. 2012-07-19T11:01:32Z UMLS:C4023090 human_phenotype HP:0011993 Impaired neutrophil bactericidal activity HP:0011993 A reduction in the ability of neutrophils to kill bacteria. https://orcid.org/0000-0002-0736-9199 An abnormality of the interatrial septum. 2012-07-19T11:34:27Z Fyler:2002 SNOMEDCT_US:253363004 UMLS:C0344722 Abnormal interatrial septum morphology Abnormality of the atrial septum human_phenotype HP:0011994 Abnormal atrial septum morphology HP:0011994 An abnormality of the interatrial septum. https://orcid.org/0000-0002-0736-9199 Abnormal interatrial septum morphology https://orcid.org/0000-0001-5208-3432 A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. 2012-07-19T11:35:07Z SNOMEDCT_US:95440004 UMLS:C0521533 Atrial septal aneurysm human_phenotype HP:0011995 Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. Atrial septal dilatation HP:0011995 A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. PMID:7758185 https://orcid.org/0000-0002-0736-9199 Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. 2012-07-19T11:40:31Z UMLS:C4021106 Elevated factor V activity Plasma factor V elevated human_phenotype HP:0011996 Elevated coagulation factor V activity HP:0011996 Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. https://orcid.org/0000-0002-0736-9199 Abnormally increased level of blood lactate following a meal. 2012-07-19T12:06:39Z UMLS:C4023089 human_phenotype HP:0011997 Postprandial hyperlactemia HP:0011997 Abnormally increased level of blood lactate following a meal. https://orcid.org/0000-0002-0736-9199 An increased concentration of glucose in the blood following a meal. 2012-07-19T12:07:59Z UMLS:C1855520 human_phenotype HP:0011998 Postprandial hyperglycemia HP:0011998 An increased concentration of glucose in the blood following a meal. https://orcid.org/0000-0002-0736-9199 The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. 2012-07-19T01:00:23Z SNOMEDCT_US:191667009 UMLS:C1456784 Paranoia human_phenotype HP:0011999 Paranoia is defined as a non-delusional state characterized by a vague sense that 'everyone and anyone' is unfavorable towards one as in 'the whole world hates me'. A persecutory delusion is, in contrast, typically fixed and focused - as in 'my neighbor is pumping poison into my house'. Paranoia HP:0011999 The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment. PMID:34618805 Paranoia EEG with generalized sharp transient waves of a duration less than 80 msec. 2012-07-20T11:39:52Z UMLS:C2206531 EEG with generalised spikes human_phenotype HP:0012000 EEG with generalized spikes HP:0012000 EEG with generalized sharp transient waves of a duration less than 80 msec. HPO_CONTRIBUTOR:jalbers EEG with generalised spikes EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. 2012-07-20T11:41:07Z UMLS:C4023088 EEG with generalised polyspikes human_phenotype HP:0012001 EEG with generalized polyspikes HP:0012001 EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. HPO_CONTRIBUTOR:jalbers EEG with generalised polyspikes Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. 2012-07-20T11:50:13Z UMLS:C4023087 Experiential aura Experiential auras human_phenotype HP:0012002 Experiential epileptic aura HP:0012002 Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. https://orcid.org/0000-0002-0736-9199 Experiential auras Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. 2012-07-20T11:52:11Z UMLS:C4023086 Affective aura Affective auras Emotional aura human_phenotype HP:0012003 Affective epileptic aura HP:0012003 Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. https://orcid.org/0000-0002-0736-9199 Affective auras A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. 2012-07-20T11:53:39Z HP:0032697 UMLS:C4023085 Mnemonic aura Mnemonic auras human_phenotype HP:0012004 See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. Focal cognitive seizure with deja vu/jamais vu HP:0012004 A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. PMID:28276060 https://orcid.org/0000-0002-0736-9199 Mnemonic auras A subjective feeling that an experience which is occurring for the first time has been experienced before. 2012-07-20T11:54:16Z SNOMEDCT_US:313005 UMLS:C0011194 Deja vu human_phenotype HP:0012005 Deja vu aura HP:0012005 A subjective feeling that an experience which is occurring for the first time has been experienced before. https://orcid.org/0000-0002-0736-9199 Deja vu A subjective feeling that an experience which has occurred before is being experienced for the first time. 2012-07-20T11:55:38Z SNOMEDCT_US:28249008 UMLS:C0233803 Jamais vu human_phenotype HP:0012006 Jamais vu aura HP:0012006 A subjective feeling that an experience which has occurred before is being experienced for the first time. https://orcid.org/0000-0002-0736-9199 A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. 2012-07-20T11:56:47Z HP:0032703 UMLS:C4023084 Hallucinatory aura Hallucinatory auras human_phenotype HP:0012007 Hallucination is the creation of composite perceptions without the presence of external sensory stimuli, these may be visual (e.g. formed images), auditory (e.g. hearing voices) or involve other sensory modalities, without change in awareness. The sensory phenomena may be accompanied by associated emotion or interpretation e.g. a formed visual image may be accompanied by fear, or may be experienced as persecutory or with paranoia (i.e. with unjustified suspicion / mistrust). These features distinguish focal seizures with hallucinations from focal sensory seizures. Focal cognitive seizure with hallucination HP:0012007 A focal cognitive seizure characterized by hallucination as the initial semiological manifestation. PMID:28276060 https://orcid.org/0000-0002-0736-9199 Hallucinatory auras A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. 2012-07-20T11:57:32Z HP:0032695 UMLS:C4023083 Illusory aura Illusory auras human_phenotype HP:0012008 Focal cognitive seizure with illusion HP:0012008 A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation. PMID:28276060 https://orcid.org/0000-0002-0736-9199 Illusory auras EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2012-07-20T11:58:18Z UMLS:C4023082 human_phenotype HP:0012009 EEG with central focal spike waves HP:0012009 EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2012-07-20T11:59:21Z UMLS:C4023081 human_phenotype HP:0012010 EEG with frontal focal spike waves HP:0012010 EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2012-07-20T11:59:43Z UMLS:C4023080 human_phenotype HP:0012011 EEG with occipital focal spike waves HP:0012011 EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2012-07-20T12:00:43Z UMLS:C4023079 human_phenotype HP:0012012 EEG with parietal focal spike waves HP:0012012 EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2012-07-20T12:01:01Z UMLS:C4023078 human_phenotype HP:0012013 EEG with temporal focal spike waves HP:0012013 EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec in the central region. 2012-07-20T12:01:29Z UMLS:C4023077 human_phenotype HP:0012014 EEG with central focal spikes HP:0012014 EEG with focal sharp transient waves of a duration less than 80 msec in the central region. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. 2012-07-20T12:02:12Z UMLS:C4023076 human_phenotype HP:0012015 EEG with frontal focal spikes HP:0012015 EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. 2012-07-20T12:02:28Z UMLS:C4023075 human_phenotype HP:0012016 EEG with occipital focal spikes HP:0012016 EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. 2012-07-20T12:02:43Z UMLS:C4023074 human_phenotype HP:0012017 EEG with parietal focal spikes HP:0012017 EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. HPO_CONTRIBUTOR:jalbers EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. 2012-07-20T12:02:59Z UMLS:C4023073 human_phenotype HP:0012018 EEG with temporal focal spikes HP:0012018 EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. HPO_CONTRIBUTOR:jalbers Complete dislocation of the lens of the eye. 2012-07-26T10:40:02Z UMLS:C0023309 Completely dislocated lens Completely dislocated lenses human_phenotype HP:0012019 Lens luxation HP:0012019 Complete dislocation of the lens of the eye. https://orcid.org/0000-0002-0736-9199 Completely dislocated lens https://orcid.org/0000-0002-6548-5200 Completely dislocated lenses Aorta descends on right instead of on the left. 2012-07-26T09:25:32Z Fyler:2720 SNOMEDCT_US:111321007 SNOMEDCT_US:244229003 UMLS:C0035615 Right-sided aortic arch human_phenotype HP:0012020 The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. Right aortic arch HP:0012020 Aorta descends on right instead of on the left. https://orcid.org/0000-0002-0736-9199 Persistence of blood flow through the ductus venosus for longer than the normal time after birth. 2012-07-26T10:10:58Z UMLS:C4023072 human_phenotype HP:0012021 The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. Persistent patent ductus venosus HP:0012021 Persistence of blood flow through the ductus venosus for longer than the normal time after birth. PMID:16449256 https://orcid.org/0000-0002-0736-9199 A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). 2012-07-26T10:16:40Z SNOMEDCT_US:253330006 UMLS:C0344688 human_phenotype HP:0012022 Congenital portosystemic venous shunt HP:0012022 A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). https://orcid.org/0000-0002-0736-9199 Elevated concentration of galactose in the urine. 2012-07-26T10:31:35Z SNOMEDCT_US:71690006 UMLS:C0268157 Increased urinary galactose level human_phenotype HP:0012023 Galactosuria HP:0012023 Elevated concentration of galactose in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary galactose level https://orcid.org/0000-0001-5208-3432 The concentration of galactose in the blood circulation is above the upper limit of normal. 2012-07-26T10:35:58Z SNOMEDCT_US:190745006 SNOMEDCT_US:190749000 UMLS:C0016952 UMLS:C4023071 Elevated circulating galactose concentration Elevated galactose concentration Elevated galactose level Elevated galactose level in blood Hypergalactosemia Increased galactose concentration Increased galactose level Increased galactose level in blood human_phenotype Galactosemia HP:0012024 Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). Hypergalactosemia HP:0012024 Deviation from the normal concentration of ornithine in the blood circulation. 2012-07-26T10:48:59Z UMLS:C4023070 human_phenotype HP:0012025 Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs. Abnormal circulating ornithine concentration HP:0012025 Deviation from the normal concentration of ornithine in the blood circulation. https://orcid.org/0000-0002-0736-9199 Increased concentration of ornithine in the blood. 2012-07-26T10:49:54Z SNOMEDCT_US:276426004 SNOMEDCT_US:33985005 UMLS:C0599035 High blood ornithine levels human_phenotype HP:0012026 Hyperornithinemia HP:0012026 Increased concentration of ornithine in the blood. https://orcid.org/0000-0002-0736-9199 High blood ornithine levels https://orcid.org/0000-0001-5208-3432 An abnormal accumulation of fluid and swelling in the tissues of the larynx. 2012-07-26T10:51:45Z SNOMEDCT_US:51599000 UMLS:C0023052 Laryngeal oedema human_phenotype HP:0012027 Laryngeal edema HP:0012027 An abnormal accumulation of fluid and swelling in the tissues of the larynx. https://orcid.org/0000-0002-0736-9199 Laryngeal oedema A benign tumor of the liver of presumably epithelial origin. 2012-07-27T01:24:44Z MPATH:353 SNOMEDCT_US:424263008 SNOMEDCT_US:78058005 UMLS:C0206669 Hepatic adenoma Liver cell adenoma human_phenotype HP:0012028 Hepatocellular adenoma HP:0012028 A benign tumor of the liver of presumably epithelial origin. https://orcid.org/0000-0002-0736-9199 MPATH:353 hepatocellular adenoma The amount of an steroid metabolite in the urine, normalized for urine concentration, is outside the limits of normal. 2012-07-27T01:29:51Z UMLS:C4023069 Abnormality of urine hormone level human_phenotype HP:0012029 Abnormal urine steroid level HP:0012029 The amount of an steroid metabolite in the urine, normalized for urine concentration, is outside the limits of normal. https://orcid.org/0000-0002-0736-9199 Abnormally increased concentration of cortisol in the urine. 2012-07-27T01:30:44Z UMLS:C4023068 High urine cortisol level human_phenotype HP:0012030 Increased urinary cortisol level HP:0012030 Abnormally increased concentration of cortisol in the urine. https://orcid.org/0000-0002-0736-9199 High urine cortisol level https://orcid.org/0000-0001-5208-3432 2012-07-27T01:32:28Z MPATH:415 SNOMEDCT_US:115227001 SNOMEDCT_US:254827004 SNOMEDCT_US:254831005 UMLS:C0206631 Lipomatous tumour human_phenotype HP:0012031 Lipomatous tumor HP:0012031 MPATH:415 lipomatous tumor Lipomatous tumour Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. 2012-07-27T01:33:13Z MEDDRA:10024612 MPATH:417 SNOMEDCT_US:46720004 SNOMEDCT_US:93163002 UMLS:C0023798 Fatty lump Noncancerous fatty lump human_phenotype HP:0012032 Lipoma HP:0012032 Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. MPATH:417 MEDDRA:10024612 Lipoma MPATH:417 lipoma Fatty lump Noncancerous fatty lump https://orcid.org/0000-0002-6548-5200 Presence of a lipoma in the region of the sacrum. 2012-07-27T01:37:57Z UMLS:C4021835 human_phenotype HP:0012033 For an example, see Figure 1 of PMID:30264029. Sacral lipoma HP:0012033 Presence of a lipoma in the region of the sacrum. PMID:30264029 https://orcid.org/0000-0002-0736-9199 Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. 2012-07-27T01:40:25Z MPATH:418 SNOMEDCT_US:254829001 SNOMEDCT_US:49430005 UMLS:C0023827 human_phenotype HP:0012034 Liposarcoma HP:0012034 Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway. MPATH:418 MPATH:418 Liposarcoma Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). 2012-07-27T01:45:14Z SNOMEDCT_US:109433009 UMLS:C0259771 human_phenotype HP:0012035 Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. Steatocystoma multiplex HP:0012035 Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). PMID:20631281 https://orcid.org/0000-0002-0736-9199 Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. 2012-07-27T01:51:24Z UMLS:C4023067 human_phenotype HP:0012036 Sternocleidomastoid amyotrophy HP:0012036 Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. https://orcid.org/0000-0002-0736-9199 Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases. 2012-07-27T01:55:38Z UMLS:C4023066 Wasting of pec muscles human_phenotype HP:0012037 Pectoralis amyotrophy HP:0012037 Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases. https://orcid.org/0000-0002-0736-9199 Wasting of pec muscles https://orcid.org/0000-0001-5208-3432 Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. 2012-07-27T02:06:24Z SNOMEDCT_US:373424008 UMLS:C0271288 Corneal endothelial guttata Corneal guttae human_phenotype HP:0012038 Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. Corneal guttata HP:0012038 Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. PMID:10611102 PMID:11222329 https://orcid.org/0000-0002-0736-9199 Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. 2012-07-27T02:14:55Z SNOMEDCT_US:193821003 UMLS:C0155116 human_phenotype HP:0012039 Descemet Membrane Folds HP:0012039 Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. https://orcid.org/0000-0002-0736-9199 Abnormal accumulation of fluid and swelling of the stroma of cornea. 2012-07-27T02:19:25Z SNOMEDCT_US:373430008 UMLS:C0474444 Corneal stromal oedema human_phenotype HP:0012040 Corneal stromal edema HP:0012040 Abnormal accumulation of fluid and swelling of the stroma of cornea. https://orcid.org/0000-0002-0736-9199 Corneal stromal oedema 2012-07-30T06:50:19Z UMLS:C0151640 Decreased fertility in males human_phenotype HP:0012041 Decreased fertility in males HP:0012041 Decreased fertility in males A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. 2012-08-01T11:22:04Z SNOMEDCT_US:407674008 UMLS:C1319853 Aspirin-induced asthma human_phenotype HP:0012042 Aspirin-induced asthma HP:0012042 A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. PMID:12743549 Aspirin-induced asthma Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. 2012-08-01T12:04:00Z SNOMEDCT_US:35743001 UMLS:C0271388 UMLS:C4020734 human_phenotype Nystagmus, continuous pendular Nystagmus, pendular HP:0012043 Pendular nystagmus HP:0012043 Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. https://orcid.org/0000-0002-0736-9199 Nystagmus, continuous pendular https://orcid.org/0000-0002-5316-1399 Nystagmus, pendular https://orcid.org/0000-0002-5316-1399 Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. 2012-08-01T12:06:36Z SNOMEDCT_US:95782001 UMLS:C0344243 human_phenotype HP:0012044 Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. Seesaw nystagmus HP:0012044 Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. https://orcid.org/0000-0002-0736-9199 Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. 2012-08-01T12:17:00Z SNOMEDCT_US:247138002 UMLS:C0423414 human_phenotype HP:0012045 Retinal flecks HP:0012045 Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. PMID:7952338 Inability to elicit tendon reflexes in the upper limbs. 2012-08-01T12:24:31Z UMLS:C2674177 human_phenotype HP:0012046 Areflexia of upper limbs HP:0012046 Inability to elicit tendon reflexes in the upper limbs. https://orcid.org/0000-0002-0736-9199 A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. 2012-08-01T12:26:28Z SNOMEDCT_US:399323001 UMLS:C0018975 Day blindness human_phenotype HP:0012047 Hemeralopia HP:0012047 A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. https://orcid.org/0000-0002-0736-9199 Day blindness https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. 2012-08-01T12:29:50Z HP:0001494 UMLS:C2242577 Cranial dystonia human_phenotype HP:0012048 Oromandibular dystonia HP:0012048 A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. https://orcid.org/0000-0002-0736-9199 A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. 2012-08-01T12:34:41Z SNOMEDCT_US:3331000119108 UMLS:C1963946 Spasmodic dysphonia human_phenotype HP:0012049 Laryngeal dystonia HP:0012049 A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. https://orcid.org/0000-0002-0736-9199 An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. 2012-08-01T12:53:48Z SNOMEDCT_US:16740003 SNOMEDCT_US:442433009 UMLS:C0151603 Extreme generalised oedema Extreme generalized edema human_phenotype HP:0012050 Anasarca HP:0012050 An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. https://orcid.org/0000-0002-0736-9199 Extreme generalised oedema Extreme generalized edema https://orcid.org/0000-0001-5208-3432 Hypoglycermia following a meal (or more generally, after intake of glucose). 2012-08-01T12:57:57Z SNOMEDCT_US:237638000 SNOMEDCT_US:317006 UMLS:C0271710 Low blood sugar after a meal Postprandial hypoglycemia human_phenotype HP:0012051 Reactive hypoglycemia may be the result of an exaggerated insulin response. Reactive hypoglycemia HP:0012051 Hypoglycermia following a meal (or more generally, after intake of glucose). https://orcid.org/0000-0002-0736-9199 Low blood sugar after a meal https://orcid.org/0000-0001-5208-3432 The concentration of calcitriol in the blood circulation is below the lower limit of normal. 2012-08-01T01:02:39Z UMLS:C4023065 Low serum 1,25-dihydroxycholecalciferol Low serum 1,25-dihydroxyvitamin D3 Low serum calcitriol human_phenotype HP:0012052 Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. Decreased circulating calcitriol concentration HP:0012052 The concentration of calcitriol in the blood circulation is below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. 2012-08-01T01:04:42Z UMLS:C4023064 Decreased 25-hydroxyvitamin D3 Low serum 25-hydroxycholecalciferol Low serum calcidiol Low serum calcifediol human_phenotype HP:0012053 Decreased circulating calcifediol concentration HP:0012053 A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. https://orcid.org/0000-0002-0736-9199 Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). 2012-08-01T01:59:00Z NCIT:C3224 SNOMEDCT_US:255021005 UMLS:C0346388 human_phenotype HP:0012054 Choroidal melanoma HP:0012054 Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). PMID:22557869 https://orcid.org/0000-0002-0736-9199 Malignant tumor of melanocytes of the ciliary body. 2012-08-01T02:01:02Z NCIT:C3224 SNOMEDCT_US:255015006 UMLS:C0346379 human_phenotype HP:0012055 Ciliary body melanoma HP:0012055 Malignant tumor of melanocytes of the ciliary body. https://orcid.org/0000-0002-0736-9199 The presence of a melanoma of the skin. 2012-08-01T02:04:21Z NCIT:C3224 SNOMEDCT_US:2092003 SNOMEDCT_US:372244006 UMLS:C0025202 human_phenotype HP:0012056 The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. Cutaneous melanoma HP:0012056 The presence of a melanoma of the skin. https://orcid.org/0000-0002-0736-9199 A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. 2012-08-01T02:07:52Z SNOMEDCT_US:254730000 SNOMEDCT_US:55320002 UMLS:C0334438 human_phenotype HP:0012057 Superficial spreading melanoma HP:0012057 A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown. https://orcid.org/0000-0002-0736-9199 A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. 2012-08-01T02:08:50Z SNOMEDCT_US:2142002 SNOMEDCT_US:254731001 UMLS:C0334424 human_phenotype HP:0012058 Nodular melanoma HP:0012058 A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color. https://orcid.org/0000-0002-0736-9199 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. 2012-08-01T02:16:45Z SNOMEDCT_US:302837001 SNOMEDCT_US:44474009 UMLS:C2739810 human_phenotype HP:0012059 Lentigo maligna melanoma HP:0012059 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. https://orcid.org/0000-0002-0736-9199 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. 2012-08-01T02:17:02Z SNOMEDCT_US:16974005 SNOMEDCT_US:254732008 UMLS:C0346037 human_phenotype HP:0012060 Acral lentiginous melanoma HP:0012060 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. https://orcid.org/0000-0002-0736-9199 Excretion of oligosaccharides conjugated to sialic acid in the urine. 2012-08-04T02:14:44Z UMLS:C2673302 Increased urinary sialyloligosaccharides human_phenotype HP:0012061 Urinary excretion of sialylated oligosaccharides HP:0012061 Excretion of oligosaccharides conjugated to sialic acid in the urine. https://orcid.org/0000-0002-0736-9199 A fluid filled cavity that develops with a bone. 2012-08-03T02:35:39Z HP:0100696 SNOMEDCT_US:112643007 SNOMEDCT_US:203465002 SNOMEDCT_US:203467005 SNOMEDCT_US:66954000 UMLS:C0005937 Bone cyst Bone cysts human_phenotype HP:0012062 Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. Bone cyst HP:0012062 A fluid filled cavity that develops with a bone. https://orcid.org/0000-0002-0736-9199 Bone cyst Bone cysts Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. 2012-08-03T02:35:52Z SNOMEDCT_US:203468000 SNOMEDCT_US:76000001 UMLS:C0152244 human_phenotype HP:0012063 Aneurysmal bone cyst HP:0012063 Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. PMID:22474093 PMID:7863874 https://orcid.org/0000-0002-0736-9199 A benign fluid filled simple cyst of bone filled with serous fluid. 2012-08-03T02:42:14Z SNOMEDCT_US:112643007 SNOMEDCT_US:203467005 UMLS:C4082185 human_phenotype HP:0012064 Unicameral bone cyst HP:0012064 A benign fluid filled simple cyst of bone filled with serous fluid. https://orcid.org/0000-0002-0736-9199 Presence of multiple cystic changes in multiple areas or multiple bones. 2012-08-03T02:45:09Z UMLS:C4023063 Multiple bony cystic lesions human_phenotype HP:0012065 Multiple bony cystic lesions HP:0012065 Presence of multiple cystic changes in multiple areas or multiple bones. https://orcid.org/0000-0002-0736-9199 Multiple bony cystic lesions Increased concentration of disaccharide in the urine. 2012-08-04T02:54:28Z UMLS:C4023062 human_phenotype HP:0012066 Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. Increased urinary disaccharide excretion HP:0012066 Increased concentration of disaccharide in the urine. https://orcid.org/0000-0002-0736-9199 Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. 2012-08-04T03:03:03Z UMLS:C4023061 High urine glycopeptide levels human_phenotype HP:0012067 This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. Glycopeptiduria HP:0012067 Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. https://orcid.org/0000-0002-0736-9199 High urine glycopeptide levels https://orcid.org/0000-0001-5208-3432 Excretion of excess amounts of aspartylglucosamine in the urine. 2012-08-04T03:15:37Z SNOMEDCT_US:54954004 UMLS:C0268225 High urine aspartylglucosamine levels human_phenotype HP:0012068 Aspartylglucosaminuria HP:0012068 Excretion of excess amounts of aspartylglucosamine in the urine. https://orcid.org/0000-0002-0736-9199 High urine aspartylglucosamine levels https://orcid.org/0000-0001-5208-3432 An increased concentration of keratan sulfate in the urine. 2012-08-04T03:20:15Z UMLS:C4023060 Keratan sulphate excretion in urine human_phenotype HP:0012069 Keratan sulfate is a a glycosaminoglycan. Keratan sulfate excretion in urine HP:0012069 An increased concentration of keratan sulfate in the urine. https://orcid.org/0000-0002-0736-9199 Keratan sulphate excretion in urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. 2012-08-04T03:22:36Z UMLS:C4023059 Chondroitin sulphate excretion in urine human_phenotype HP:0012070 Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. Chondroitin sulfate excretion in urine HP:0012070 An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. https://orcid.org/0000-0002-0736-9199 Chondroitin sulphate excretion in urine Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. 2012-08-11T09:03:41Z UMLS:C4020733 UMLS:C4023058 Abnormal circulating esterified carnitine concentration human_phenotype Abnormal acetylcarnitine profile HP:0012071 Acylcarnitines are esters of l-carnitine and fatty acids. Therefore, it is inferred that the number of acylcarnitines that may be formed with these fatty acids is very considerable. Similar to fatty acids, acylcarnitines are also differed by length of the acyl groups, often categorized as short, medium and long-chain acylcarnitines (simply marked as SCACs, MCACs and LCACs). Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. Abnormal circulating acylcarnitine concentration HP:0012071 Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. PMID:18281923 PMID:23258903 PMID:6348429 https://orcid.org/0000-0002-0736-9199 Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. SNOMEDCT_US:21806007 UMLS:C0278026 Acidic urine human_phenotype HP:0012072 Aciduria HP:0012072 Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. https://orcid.org/0000-0002-0736-9199 Acidic urine An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. 2012-08-11T09:46:03Z UMLS:C4023057 human_phenotype HP:0012073 N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. Abnormal urinary acylglycine profile HP:0012073 An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. PMID:10870848 https://orcid.org/0000-0002-0736-9199 An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. 2012-08-11T09:58:20Z SNOMEDCT_US:24225004 UMLS:C0040416 Adie pupil Adie's tonic pupil human_phenotype HP:0012074 Tonic pupil HP:0012074 An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. https://orcid.org/0000-0002-0736-9199 A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society. 2012-08-11T02:20:27Z ICD-10:F60 SNOMEDCT_US:33449004 UMLS:C0031212 human_phenotype HP:0012075 A personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work, and school. It usually manifests since childhood or adolescence and continues throughout adulthood. Personality disorder HP:0012075 ICD-10:F60 Specific personality disorders A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness. 2012-08-11T02:26:02Z ICD-10:F60.3 SNOMEDCT_US:20010003 UMLS:C0006012 BPD EUPD Emotionally unstable personality disorder human_phenotype HP:0012076 Borderline personality disorder HP:0012076 ICD-10:F60.3 Emotionally unstable personality disorder, borderline type BPD EUPD A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. 2012-08-11T02:38:39Z ICD-10:F60.4 SNOMEDCT_US:55341008 UMLS:C0019681 human_phenotype HP:0012077 Histrionic personality disorder HP:0012077 A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention. ICD-10:F60.4 ICD-10:F60.4 Histrionic personality disorder Blockade of impulses at a focal site along the course of a motor axon. 2012-08-18T04:34:49Z UMLS:C4023056 human_phenotype HP:0012078 Motor conduction block HP:0012078 Blockade of impulses at a focal site along the course of a motor axon. https://orcid.org/0000-0002-0736-9199 Any anomaly of the conduction of motor nerve impulses in the central nervous system. 2012-08-18T04:41:05Z UMLS:C4023055 human_phenotype HP:0012079 Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibers in the corticospinal tracts. Abnormality of central motor conduction HP:0012079 Any anomaly of the conduction of motor nerve impulses in the central nervous system. PMID:3572430 https://orcid.org/0000-0002-0736-9199 Atrophy of the cerebellum affecting primarily the granular cell layer. 2012-08-18T05:23:55Z UMLS:C4023054 human_phenotype HP:0012080 Cerebellar granular layer atrophy HP:0012080 Atrophy of the cerebellum affecting primarily the granular cell layer. https://orcid.org/0000-0002-0736-9199 An abnormally increased size of the cerebellum compared to other brain structures. 2012-08-18T05:29:26Z UMLS:C3278024 human_phenotype HP:0012081 Enlarged cerebellum HP:0012081 An abnormally increased size of the cerebellum compared to other brain structures. https://orcid.org/0000-0002-0736-9199 Atrophy of the cerebellum affecting primarily the Purkinje cell layer. 2012-08-18T05:31:43Z UMLS:C4023053 human_phenotype HP:0012082 Cerebellar Purkinje layer atrophy HP:0012082 Atrophy of the cerebellum affecting primarily the Purkinje cell layer. https://orcid.org/0000-0002-0736-9199 Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. 2012-08-18T05:34:56Z UMLS:C4023052 human_phenotype HP:0012083 Ubiquitin-positive cerebral inclusion bodies HP:0012083 Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. https://orcid.org/0000-0002-0736-9199 Any abnormality of the size of the skeletal muscle cell. 2012-08-20T03:19:54Z UMLS:C4023051 Abnormality of skeletal muscle fibre size human_phenotype HP:0012084 Abnormality of skeletal muscle fiber size HP:0012084 Any abnormality of the size of the skeletal muscle cell. https://orcid.org/0000-0002-0736-9199 Abnormality of skeletal muscle fibre size The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. 2012-08-20T09:10:26Z SNOMEDCT_US:275765006 SNOMEDCT_US:4800001 UMLS:C0034359 High urine neutrophil count human_phenotype Leukocyturia HP:0012085 Pyuria HP:0012085 The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. PMID:25760357 https://orcid.org/0000-0002-0736-9199 High urine neutrophil count https://orcid.org/0000-0001-5208-3432 An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. 2012-08-20T09:12:30Z SNOMEDCT_US:102867009 SNOMEDCT_US:167239007 UMLS:C0522153 Abnormal urinary color Abnormal urine color Abnormal urine colour human_phenotype HP:0012086 Abnormal urinary color HP:0012086 An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. https://orcid.org/0000-0002-0736-9199 Abnormal urinary color Abnormal urine color https://orcid.org/0000-0001-5208-3432 Abnormal urine colour An anomaly in the surface contour of mitochondria. 2012-09-08T11:02:39Z UMLS:C4023050 human_phenotype HP:0012087 Abnormal mitochondrial shape HP:0012087 An anomaly in the surface contour of mitochondria. MP:0011633 https://orcid.org/0000-0002-0736-9199 A deviation from the normal odor of the urine. 2012-08-20T09:13:26Z SNOMEDCT_US:8769003 UMLS:C0278045 Abnormal urinary odor Abnormal urine smell human_phenotype HP:0012088 Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. Abnormal urinary odor HP:0012088 A deviation from the normal odor of the urine. https://orcid.org/0000-0002-0736-9199 Abnormal urinary odor Abnormal urine smell https://orcid.org/0000-0001-5208-3432 Arterial inflammation. 2012-08-20T09:15:19Z SNOMEDCT_US:52089001 UMLS:C0003860 Inflammation of artery human_phenotype HP:0012089 Arteritis HP:0012089 Arterial inflammation. https://orcid.org/0000-0002-0736-9199 Inflammation of artery https://orcid.org/0000-0001-5208-3432 2012-08-20T09:16:38Z UMLS:C4023049 Abnormality of pancreas morphology Abnormally shaped pancreas human_phenotype HP:0012090 Abnormal pancreas morphology HP:0012090 Abnormally shaped pancreas https://orcid.org/0000-0001-5208-3432 An anomaly of the function of the pancreas. 2012-08-20T09:17:10Z UMLS:C4023048 human_phenotype HP:0012091 Abnormality of pancreas physiology HP:0012091 An anomaly of the function of the pancreas. https://orcid.org/0000-0002-0736-9199 A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. 2012-08-20T09:17:46Z UMLS:C4021103 Abnormal exocrine pancreatic function human_phenotype HP:0012092 Abnormality of exocrine pancreas physiology HP:0012092 A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. https://orcid.org/0000-0002-0736-9199 Abnormal exocrine pancreatic function https://orcid.org/0000-0002-5316-1399 A function abnormality of the endocrine pancreas. 2012-08-20T09:18:18Z UMLS:C4023047 human_phenotype HP:0012093 Abnormality of endocrine pancreas physiology HP:0012093 A function abnormality of the endocrine pancreas. https://orcid.org/0000-0002-0736-9199 A deviation from the normal size of the pancreas. 2012-08-20T09:19:08Z UMLS:C4023046 Abnormal pancreas size human_phenotype HP:0012094 Abnormal pancreas size HP:0012094 A deviation from the normal size of the pancreas. https://orcid.org/0000-0002-0736-9199 Abnormal pancreas size Dislocation of many joints. 2012-08-20T09:19:52Z SNOMEDCT_US:287096003 SNOMEDCT_US:34277002 UMLS:C0332792 human_phenotype Multiple joint dislocations HP:0012095 Multiple joint dislocation HP:0012095 Dislocation of many joints. https://orcid.org/0000-0002-0736-9199 Multiple joint dislocations https://orcid.org/0000-0002-5316-1399 A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. 2012-08-20T09:21:24Z UMLS:C4023045 human_phenotype HP:0012096 See Figure 8 in PMID:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. Intracranial epidermoid cyst HP:0012096 A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development. PMID:16714456 https://orcid.org/0000-0002-0736-9199 A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. 2012-08-20T09:22:25Z UMLS:C4023044 human_phenotype HP:0012097 See Figure 9 in PMID:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. Intracranial dermoid cyst HP:0012097 A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands. PMID:16714456 https://orcid.org/0000-0002-0736-9199 An abnormal accumulation of fluid beneath the skin on the back of the feet. 2012-08-20T09:33:33Z SNOMEDCT_US:445124008 UMLS:C2919341 Edema of dorsum of feet Oedema of dorsum of feet Oedema of the dorsum of feet human_phenotype HP:0012098 Edema of the dorsum of feet HP:0012098 An abnormal accumulation of fluid beneath the skin on the back of the feet. https://orcid.org/0000-0002-0736-9199 Oedema of dorsum of feet Oedema of the dorsum of feet An abnormal catecholamine concentration in the blood. 2012-08-22T08:20:01Z UMLS:C4021102 Abnormal catecholamine level Catecholamine levels abnormal human_phenotype HP:0012099 Abnormal circulating catecholamine concentration HP:0012099 An abnormal catecholamine concentration in the blood. https://orcid.org/0000-0002-0736-9199 An abnormal concentration of creatinine in the blood. 2012-08-22T08:40:14Z UMLS:C4021101 Abnormal blood creatinine level Abnormal circulating creatinine level Creatinine levels abnormal human_phenotype HP:0012100 Abnormal circulating creatinine concentration HP:0012100 An abnormal concentration of creatinine in the blood. https://orcid.org/0000-0002-0736-9199 Abnormal blood creatinine level Creatinine levels abnormal An abnormally reduced amount of creatinine in the blood. 2012-08-22T08:42:16Z SNOMEDCT_US:166715006 UMLS:C0428282 Decreased serum creatinine Low blood creatinine level Reduced creatinine levels human_phenotype HP:0012101 Decreased serum creatinine HP:0012101 An abnormally reduced amount of creatinine in the blood. https://orcid.org/0000-0002-0736-9199 Decreased serum creatinine Low blood creatinine level Reduced creatinine levels A deviation from the normal number of mitochondria per cell. 2012-09-08T11:03:33Z UMLS:C4023043 human_phenotype HP:0012102 Abnormal mitochondrial number HP:0012102 A deviation from the normal number of mitochondria per cell. https://orcid.org/0000-0002-0736-9199 An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. 2012-09-08T11:05:06Z UMLS:C4020732 UMLS:C4023042 human_phenotype Mitochondrial abnormalities HP:0012103 Abnormality of the mitochondrion HP:0012103 An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. https://orcid.org/0000-0002-0736-9199 Mitochondrial abnormalities https://orcid.org/0000-0002-5316-1399 Atrophy of the parietal cortex. 2012-09-08T02:50:05Z UMLS:C4023041 human_phenotype HP:0012104 Parietal cortical atrophy HP:0012104 Atrophy of the parietal cortex. https://orcid.org/0000-0002-0736-9199 Atrophy of the occipital cortex. 2012-09-08T02:50:53Z UMLS:C4023040 human_phenotype HP:0012105 Occipital cortical atrophy HP:0012105 Atrophy of the occipital cortex. https://orcid.org/0000-0002-0736-9199 Disproportionate shortening of the proximal segment of the leg (i.e. the femur). 2012-09-08T03:53:33Z UMLS:C4023039 human_phenotype HP:0012106 This term implies that the fibula and tibia are not substantially shortened. Rhizomelic leg shortening HP:0012106 Disproportionate shortening of the proximal segment of the leg (i.e. the femur). https://orcid.org/0000-0002-0736-9199 Increased width of the cross sectional diameter of the fibula. 2012-09-08T04:03:50Z HP:0200082 UMLS:C4021100 Thick fibula Thick fibulae Wide calf bone Wide fibula human_phenotype HP:0012107 Increased fibular diameter HP:0012107 Increased width of the cross sectional diameter of the fibula. MP:0008159 https://orcid.org/0000-0002-0736-9199 Wide calf bone https://orcid.org/0000-0001-5208-3432 A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, 2012-09-10T05:17:24Z SNOMEDCT_US:77075001 UMLS:C0339573 human_phenotype Primary open angle glaucoma HP:0012108 Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. Open angle glaucoma HP:0012108 A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, PMID:11815354 https://orcid.org/0000-0002-0736-9199 A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). 2012-09-10T05:22:48Z HP:0032119 SNOMEDCT_US:392288006 UMLS:C0017606 Closed-angle glaucoma Narrow angle glaucoma human_phenotype Primary angle closure glaucoma HP:0012109 Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disk ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. Angle closure glaucoma HP:0012109 A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). PMID:11815354 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Underdevelopment of the pons. 2012-09-10T05:35:36Z UMLS:C1848529 Pontine hypoplasia human_phenotype HP:0012110 Hypoplasia of the pons HP:0012110 Underdevelopment of the pons. https://orcid.org/0000-0002-0736-9199 An abnormality of the concentration of a glucocorticoid in the blood. 2012-09-16T04:22:26Z UMLS:C4023038 human_phenotype HP:0012111 Abnormality of circulating glucocorticoid level HP:0012111 An abnormality of the concentration of a glucocorticoid in the blood. https://orcid.org/0000-0002-0736-9199 An abnormality of the concentration of corticosterone in the blood. 2012-09-16T04:23:55Z UMLS:C4023037 Abnormality of circulating corticosterone level human_phenotype HP:0012112 Abnormal circulating corticosterone level HP:0012112 An abnormality of the concentration of corticosterone in the blood. https://orcid.org/0000-0002-0736-9199 A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells. 2012-09-16T04:29:41Z UMLS:C4020731 Abnormality of creatine metabolism human_phenotype Creatine metabolism abnormal HP:0012113 Abnormal circulating creatine concentration HP:0012113 A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells. https://orcid.org/0000-0002-0736-9199 Abnormality of creatine metabolism Creatine metabolism abnormal A carcinoma of the endometrium, the mucous lining of the uterus. 2012-09-16T04:37:32Z SNOMEDCT_US:254878006 UMLS:C0476089 human_phenotype HP:0012114 Endometrial carcinoma HP:0012114 A carcinoma of the endometrium, the mucous lining of the uterus. NCIT:C7558 https://orcid.org/0000-0002-0736-9199 Inflammation of the liver. 2012-09-16T05:03:29Z SNOMEDCT_US:128241005 UMLS:C0019158 Liver inflammation human_phenotype HP:0012115 Hepatitis HP:0012115 Inflammation of the liver. https://orcid.org/0000-0002-0736-9199 Liver inflammation Any deviation from the normal concentration of albumin in the blood circulation. 2012-09-16T05:14:53Z UMLS:C4023036 Abnormal albumin level Abnormal circulating albumin concentration human_phenotype HP:0012116 Abnormal circulating albumin concentration HP:0012116 Abnormal albumin level The concentration of albumin in the blood circulation is above the upper limit of normal. 2012-09-16T05:15:41Z High albumin SNOMEDCT_US:119248009 UMLS:C1142113 Elevated albumin concentration Elevated albumin level Elevated albumin level in blood High blood albumin levels Hyperalbuminaemia Hyperalbuminemia Increased albumin concentration Increased albumin level Increased albumin level in blood Increased circulating abumin concentration human_phenotype HP:0012117 Hyperalbuminemia HP:0012117 High albumin High blood albumin levels https://orcid.org/0000-0001-5208-3432 A carcinoma of the larynx. 2012-09-16T05:28:05Z SNOMEDCT_US:276975007 UMLS:C0595989 Cancer of the larynx Laryngeal cancer human_phenotype HP:0012118 Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. Laryngeal carcinoma HP:0012118 A carcinoma of the larynx. NCIT:C4855 https://orcid.org/0000-0002-0736-9199 Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. 2012-09-16T05:42:35Z SNOMEDCT_US:131171006 SNOMEDCT_US:38959009 UMLS:C0025637 human_phenotype HP:0012119 Methemoglobinemia HP:0012119 Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. https://orcid.org/0000-0002-0736-9199 Increased concentration of methylmalonic acid in the urine. 2012-09-16T06:02:23Z UMLS:C1855119 High blood methylmalonic acid levels Methymalonicaciduria human_phenotype HP:0012120 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Methylmalonic aciduria HP:0012120 Increased concentration of methylmalonic acid in the urine. https://orcid.org/0000-0002-0736-9199 High blood methylmalonic acid levels https://orcid.org/0000-0001-5208-3432 Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. 2012-09-16T06:23:34Z SNOMEDCT_US:75614007 UMLS:C0030343 human_phenotype HP:0012121 Panuveitis HP:0012121 Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid. https://orcid.org/0000-0002-0736-9199 Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. 2012-09-16T06:24:32Z SNOMEDCT_US:4927003 UMLS:C0701807 human_phenotype HP:0012122 Anterior uveitis HP:0012122 Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. https://orcid.org/0000-0002-0736-9199 Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. 2012-09-16T06:25:06Z SNOMEDCT_US:16553002 SNOMEDCT_US:43363007 UMLS:C0008526 UMLS:C0042167 Choroiditis human_phenotype HP:0012123 Posterior uveitis HP:0012123 Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. https://orcid.org/0000-0002-0736-9199 Choroiditis https://orcid.org/0000-0001-5208-3432 Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. 2012-09-16T06:25:53Z SNOMEDCT_US:314429009 UMLS:C0042166 human_phenotype HP:0012124 Intermediate uveitis HP:0012124 Inflammation of the uveal tract in which the primary site of inflammation is the vitreous. https://orcid.org/0000-0002-0736-9199 A cancer of the prostate. 2012-09-16T06:33:32Z SNOMEDCT_US:399068003 UMLS:C0376358 Prostatic cancer human_phenotype HP:0012125 Prostate cancer HP:0012125 A cancer of the prostate. https://orcid.org/0000-0002-0736-9199 A cancer arising in any part of the stomach. 2012-09-16T06:45:29Z SNOMEDCT_US:372143007 UMLS:C0699791 Gastric cancer human_phenotype HP:0012126 Stomach cancer HP:0012126 A cancer arising in any part of the stomach. https://orcid.org/0000-0002-0736-9199 Increased concentration of uracil in the urine. 2012-09-16T06:53:53Z UMLS:C4021833 High urine uracil levels human_phenotype HP:0012127 Uraciluria HP:0012127 Increased concentration of uracil in the urine. https://orcid.org/0000-0002-0736-9199 High urine uracil levels https://orcid.org/0000-0001-5208-3432 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. 2012-09-16T07:00:22Z UMLS:C4023035 human_phenotype HP:0012128 Basal ganglia necrosis HP:0012128 Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging. PMID:33198265 https://orcid.org/0000-0002-0736-9199 2012-09-16T07:13:26Z UMLS:C4023034 human_phenotype HP:0012129 Abnormality of bone marrow stromal cells HP:0012129 An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. 2012-09-16T07:14:03Z UMLS:C4020862 Abnormality of cells of the erythroid lineage human_phenotype HP:0012130 Proerythroblasts are the earliest recognizable erythroid precursors. They are followined during the process of hematopoiesis by basophilic erythroblasts, polychromatic (polychromatophilic) erythroblasts, orthochromatic erythroblasts (normoblasts), reticulocytes, and finally mature erythrocytes (red blood cells). This term encompasses structural anomalies of erythroblast precursors in the bone marrow. Abnormal erythroid lineage cell morphology HP:0012130 An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. https://orcid.org/0000-0003-2945-4463 A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. 2012-09-16T07:17:18Z UMLS:C4023033 human_phenotype HP:0012131 Abnormal number of erythroid precursors HP:0012131 A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. https://orcid.org/0000-0003-2945-4463 Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. 2012-09-16T07:19:21Z UMLS:C0014800 UMLS:C1838111 UMLS:C3552917 human_phenotype Bone marrow biopsy shows erythroid hyperplasia Bone marrow smear shows erythroid hyperplasia HP:0012132 Erythroid hyperplasia HP:0012132 Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. https://orcid.org/0000-0003-2945-4463 Bone marrow biopsy shows erythroid hyperplasia https://orcid.org/0000-0002-5316-1399 Bone marrow smear shows erythroid hyperplasia https://orcid.org/0000-0002-5316-1399 Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. 2012-09-16T07:21:19Z SNOMEDCT_US:167923006 SNOMEDCT_US:41614006 UMLS:C0178416 UMLS:C0542035 Erythroblastopenia human_phenotype Erythroid hypoplasia in the bone marrow HP:0012133 Erythroid hypoplasia HP:0012133 Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. https://orcid.org/0000-0003-2945-4463 Erythroid hypoplasia in the bone marrow https://orcid.org/0000-0002-5316-1399 2012-09-16T08:01:11Z UMLS:C4023032 human_phenotype HP:0012134 Dysplastic erythropoesis HP:0012134 An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. 2012-09-16T08:02:11Z UMLS:C4023031 Abnormality of cells of the granulocytic lineage human_phenotype HP:0012135 Abnormal granulocytopoietic cell morphology HP:0012135 An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. https://orcid.org/0000-0003-2945-4463 2012-09-16T08:05:13Z UMLS:C4023030 human_phenotype HP:0012136 Dysplastic granulopoesis HP:0012136 2012-09-16T08:09:13Z UMLS:C4023029 human_phenotype HP:0012137 Abnormal number of granulocyte precursors HP:0012137 2012-09-16T08:09:36Z UMLS:C4023028 human_phenotype HP:0012138 Granulocytic hyperplasia HP:0012138 Decreased number of granulocyte precursors in the bone marrow. 2012-09-16T08:09:56Z SNOMEDCT_US:416627004 UMLS:C1534864 human_phenotype HP:0012139 Granulocytic hypoplasia HP:0012139 Decreased number of granulocyte precursors in the bone marrow. https://orcid.org/0000-0003-2945-4463 HP:0004332 human_phenotype HP:0012140 obsolete Abnormality of cells of the lymphoid lineage true HP:0012140 true HP:0012141 A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. 2012-09-16T08:55:24Z UMLS:C2675993 Squamous cell carcinoma of the pancreas human_phenotype HP:0012142 Pancreatic squamous cell carcinoma HP:0012142 A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. PMID:19079631 https://orcid.org/0000-0002-0736-9199 Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. 2012-09-16T08:20:38Z UMLS:C4023026 Abnormality of cells of the megakaryocyte lineage human_phenotype HP:0012143 Abnormal megakaryocyte morphology HP:0012143 Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. 2012-09-16T08:21:37Z UMLS:C4023025 human_phenotype HP:0012144 Abnormal monocyte morphology HP:0012144 2012-09-16T08:21:57Z UMLS:C4023024 human_phenotype HP:0012145 Abnormality of multiple cell lineages in the bone marrow HP:0012145 Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. 2012-09-16T08:25:58Z UMLS:C4023023 human_phenotype HP:0012146 Abnormality of von Willebrand factor HP:0012146 Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. https://orcid.org/0000-0003-2945-4463 Decreased quantity of von Willebrand factor. 2012-09-16T08:27:00Z UMLS:C1841816 UMLS:C4023022 human_phenotype Decreased von Willebrand factor HP:0012147 Reduced quantity of Von Willebrand factor HP:0012147 Decreased quantity of von Willebrand factor. https://orcid.org/0000-0003-2945-4463 Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. 2012-09-16T08:33:33Z UMLS:C4023021 human_phenotype HP:0012148 Multiple lineage myelodysplasia HP:0012148 Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. https://orcid.org/0000-0003-2945-4463 Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. 2012-09-16T08:39:10Z UMLS:C4023020 human_phenotype HP:0012149 Bilineage myelodysplasia HP:0012149 Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic. https://orcid.org/0000-0003-2945-4463 Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). 2012-09-16T08:39:39Z UMLS:C4023019 human_phenotype HP:0012150 Single lineage myelodysplasia HP:0012150 Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). https://orcid.org/0000-0003-2945-4463 The presence of blood in the pleural space. 2012-09-16T08:58:32Z SNOMEDCT_US:31892009 UMLS:C0019123 human_phenotype HP:0012151 Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. Hemothorax HP:0012151 The presence of blood in the pleural space. https://orcid.org/0000-0002-0736-9199 Splitting of the retinal layers in the macula and involving the fovea. 2012-09-16T09:06:26Z UMLS:C2674407 Retinoschisis involving the fovea human_phenotype HP:0012152 Foveoschisis HP:0012152 Splitting of the retinal layers in the macula and involving the fovea. PMID:25744445 https://orcid.org/0000-0002-0736-9199 An decrease in the level of triglycerides in the blood. 2012-09-20T06:39:11Z UMLS:C0542037 Decreased circulating Tg levels Decreased plasma Tg levels Low blood triglyceride levels human_phenotype HP:0012153 Hypotriglyceridemia HP:0012153 An decrease in the level of triglycerides in the blood. https://orcid.org/0000-0002-0736-9199 Decreased circulating Tg levels Decreased plasma Tg levels Low blood triglyceride levels https://orcid.org/0000-0001-5208-3432 Decreased ability or inability to experience, feel, or anticipate pleasure from activities, experiences, or stimuli that are typically found pleasurable by the individual. This may involve diminished enjoyment of previously rewarding experiences (e.g., hobbies, social interactions, or sexual activity) or reduced pleasure in response to stimuli processed through the senses (e.g., music, food, or tactile contact). Anhedonia is a disruption in the capacity to derive emotional reward and is not due to primary sensory deficits or medical conditions (e.g., anosmia from viral illness). The phenomenon involves altered affective processing rather than impaired sensory perception. 2012-09-20T06:51:36Z Diminished capacity for joy Loss of enjoyment Reduced pleasure response SNOMEDCT_US:247796005 SNOMEDCT_US:28669007 UMLS:C0178417 Anhedonic Diminished pleasure response Inability to experience pleasure Loss of ability to enjoy things Loss of interest in pleasurable activities human_phenotype HP:0012154 Anhedonia HP:0012154 Decreased ability or inability to experience, feel, or anticipate pleasure from activities, experiences, or stimuli that are typically found pleasurable by the individual. This may involve diminished enjoyment of previously rewarding experiences (e.g., hobbies, social interactions, or sexual activity) or reduced pleasure in response to stimuli processed through the senses (e.g., music, food, or tactile contact). Anhedonia is a disruption in the capacity to derive emotional reward and is not due to primary sensory deficits or medical conditions (e.g., anosmia from viral illness). The phenomenon involves altered affective processing rather than impaired sensory perception. PMID:3107136 PMID:32789515 PMID:33631251 PMID:37424409 Diminished capacity for joy Loss of ability to enjoy things Reduced ability of the cornea to respond to stimulation. 2013-01-04T08:36:10Z SNOMEDCT_US:373433005 UMLS:C0271292 UMLS:C0859996 Corneal hypaesthesia Corneal hypesthesia Reduced corneal sensation human_phenotype Decreased corneal sensitivity HP:0012155 Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. Decreased corneal sensation HP:0012155 Reduced ability of the cornea to respond to stimulation. https://orcid.org/0000-0002-0736-9199 Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. 2013-01-07T10:11:21Z SNOMEDCT_US:61070002 UMLS:C0876991 human_phenotype HP:0012156 Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). Hemophagocytosis HP:0012156 Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. PMID:25328776 https://orcid.org/0000-0002-0736-9199 Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. 2013-01-20T11:22:50Z UMLS:C4023018 human_phenotype HP:0012157 Subcortical cerebral atrophy HP:0012157 Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. PMID:20813998 https://orcid.org/0000-0002-0736-9199 A separation (dissection) of the layers of the carotid artery wall. 2013-02-16T07:19:57Z UMLS:C0338585 human_phenotype HP:0012158 Carotid artery dissection HP:0012158 A separation (dissection) of the layers of the carotid artery wall. https://orcid.org/0000-0002-0736-9199 A separation (dissection) of the layers of the internal carotid artery wall. 2013-02-16T07:22:28Z SNOMEDCT_US:705066004 UMLS:C0751815 human_phenotype HP:0012159 The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. Internal carotid artery dissection HP:0012159 A separation (dissection) of the layers of the internal carotid artery wall. https://orcid.org/0000-0002-0736-9199 A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. 2013-02-16T07:31:51Z UMLS:C4023017 human_phenotype HP:0012160 Intracranial internal carotid artery dissection HP:0012160 A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall. https://orcid.org/0000-0002-0736-9199 A separation (dissection) of the layers of the external carotid artery wall. 2013-02-16T07:33:34Z UMLS:C4023016 human_phenotype HP:0012161 External carotid artery dissection HP:0012161 A separation (dissection) of the layers of the external carotid artery wall. https://orcid.org/0000-0002-0736-9199 A separation (dissection) of the layers of the common carotid artery wall. 2013-02-16T07:34:14Z UMLS:C4023015 human_phenotype HP:0012162 Common carotid artery dissection HP:0012162 A separation (dissection) of the layers of the common carotid artery wall. https://orcid.org/0000-0002-0736-9199 A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. 2013-02-16T10:18:06Z SNOMEDCT_US:233988005 UMLS:C0340639 Carotid artery aneurysm human_phenotype HP:0012163 Carotid artery dilatation HP:0012163 A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. https://orcid.org/0000-0002-0736-9199 A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. 2013-02-16T10:20:08Z SNOMEDCT_US:32838008 UMLS:C0232766 human_phenotype HP:0012164 The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. Asterixis HP:0012164 A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. https://orcid.org/0000-0002-0736-9199 A developmental defect resulting in the presence of fewer than the normal number of digits. 2013-02-16T10:44:40Z UMLS:C3887496 human_phenotype HP:0012165 Oligodactyly HP:0012165 A developmental defect resulting in the presence of fewer than the normal number of digits. https://orcid.org/0000-0002-0736-9199 Repetitive and compulsive picking of skin which results in tissue damage. 2013-02-20T07:12:33Z ICD-10:F63.3 UMLS:C1696701 Compulsive skin picking Dermatillomania human_phenotype HP:0012166 Skin-picking HP:0012166 Repetitive and compulsive picking of skin which results in tissue damage. PMID:20575652 https://orcid.org/0000-0002-0736-9199 ICD-10:F63.3 Trichotillomania A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. 2013-02-20T07:16:10Z SNOMEDCT_US:17155009 UMLS:C0040953 Trichotillomania human_phenotype HP:0012167 Hair-pulling HP:0012167 A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. https://orcid.org/0000-0002-0736-9199 Habitual striking of one's own head against a surface such as a mattress or wall of a crib. 2013-02-20T09:33:57Z SNOMEDCT_US:43954004 UMLS:C0018672 human_phenotype HP:0012168 Head-banging HP:0012168 Habitual biting of one's own body. 2013-02-20T09:36:42Z SNOMEDCT_US:248072009 UMLS:C0424375 human_phenotype HP:0012169 Biting of one's own arms, lip, check, finger etc. Self-biting HP:0012169 Habitual biting of one's own body. https://orcid.org/0000-0002-0736-9199 Habitual biting of one's own fingernails. 2013-02-20T09:40:31Z ICD-10:F98.8 SNOMEDCT_US:37298006 UMLS:C0027338 Nail-biting Onychophagia Onychophagy human_phenotype HP:0012170 Nail-biting HP:0012170 Nail-biting Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement. 2013-02-20T09:44:45Z UMLS:C4023014 Hand clasping Hand-wringing Handwringing human_phenotype HP:0012171 Stereotypical hand wringing HP:0012171 Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement. PMID:28838622 Hand clasping https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hand-wringing https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Handwringing https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Habitual repetitive movement of the entire body, front to back or side to side. 2013-02-20T10:17:35Z UMLS:C4023013 human_phenotype HP:0012172 Stereotypical body rocking HP:0012172 An increase in heart rate with standing of 30 beats per minute or more. 2013-02-23T09:42:20Z UMLS:C4021099 Postural tachycardia human_phenotype HP:0012173 Orthostatic tachycardia HP:0012173 An increase in heart rate with standing of 30 beats per minute or more. PMID:9244228 https://orcid.org/0000-0002-0736-9199 A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. 2013-02-23T09:47:02Z HP:0100843 SNOMEDCT_US:393563007 SNOMEDCT_US:63634009 UMLS:C1621958 Glioblastoma human_phenotype HP:0012174 Glioblastoma multiforme HP:0012174 A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. NCIT:C3058 PMID:10841526 https://orcid.org/0000-0002-0736-9199 Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. 2013-02-23T09:54:07Z SNOMEDCT_US:421527008 UMLS:C0600433 Activated protein C resistance human_phenotype HP:0012175 The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. Resistance to activated protein C HP:0012175 Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. PMID:14976057 https://orcid.org/0000-0002-0736-9199 An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. 2013-02-23T10:02:16Z UMLS:C4021098 Abnormal NK cells Abnormality of natural killer cells human_phenotype HP:0012176 Abnormal natural killer cell morphology HP:0012176 An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. PMID:21212348 https://orcid.org/0000-0002-0736-9199 Abnormal NK cells https://orcid.org/0000-0002-5316-1399 Abnormal response of natural killer (NK) cells to stimuli. 2013-02-23T10:03:37Z HP:0012178 UMLS:C4023012 Abnormal NK cell physiology Reduced natural killer cell activity human_phenotype HP:0012177 Abnormal natural killer cell physiology HP:0012177 Abnormal response of natural killer (NK) cells to stimuli. https://orcid.org/0000-0002-0736-9199 Abnormal NK cell physiology HP:0012177 2013-02-23T10:05:33Z human_phenotype HP:0012178 obsolete Reduced natural killer cell activity true HP:0012178 A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. 2013-02-23T10:10:32Z Abnormal craniofacial posture Distorted craniofacial posture UMLS:C1851915 UMLS:C4023011 UMLS:C4072883 Abnormal craniofacial muscle tone Abnormal facial muscle tone Facial Dystonia human_phenotype HP:0012179 Craniofacial dystonia HP:0012179 A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. https://orcid.org/0000-0002-0736-9199 Abnormal craniofacial posture https://orcid.org/0000-0001-5889-4463 Distorted craniofacial posture https://orcid.org/0000-0001-5889-4463 Abnormal craniofacial muscle tone https://orcid.org/0000-0001-5889-4463 Abnormal facial muscle tone https://orcid.org/0000-0001-5889-4463 Facial Dystonia https://orcid.org/0000-0001-5889-4463 A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. 2013-02-23T10:17:16Z HP:0200145 SNOMEDCT_US:234021009 SNOMEDCT_US:42182000 SNOMEDCT_US:45894003 UMLS:C0392775 Arterial cystic medial necrosis human_phenotype HP:0012180 The lesions of cystic medial necrosis are not true cysts. Cystic medial necrosis HP:0012180 A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. https://orcid.org/0000-0002-0736-9199 Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. 2013-02-23T10:20:59Z SNOMEDCT_US:45781009 UMLS:C1510429 human_phenotype HP:0012181 An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical constriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. Entrapment neuropathy HP:0012181 Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. https://orcid.org/0000-0002-0736-9199 A squamous cell carcinoma that originates in the oropharnyx. 2013-02-23T10:28:31Z SNOMEDCT_US:423464009 SNOMEDCT_US:707585008 UMLS:C0280313 human_phenotype HP:0012182 Oropharyngeal squamous cell carcinoma HP:0012182 A squamous cell carcinoma that originates in the oropharnyx. https://orcid.org/0000-0002-0736-9199 Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. 2013-02-24T09:08:55Z UMLS:C4023010 human_phenotype HP:0012183 Hyperplastic colonic polyposis HP:0012183 Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. https://orcid.org/0000-0002-0736-9199 The concentration of high-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. 2013-02-24T09:14:45Z SNOMEDCT_US:238080004 UMLS:C0342883 Elevated circulating HDL-C concentration Elevated high-density lipoprotein cholesterol concentration Elevated high-density lipoprotein cholesterol level Elevated high-density lipoprotein cholesterol level in blood High blood HDL level Hyperalphalipoproteinemia Increased circulating high-density lipoprotein levels Increased high-density lipoprotein cholesterol concentration Increased high-density lipoprotein cholesterol level Increased high-density lipoprotein cholesterol level in blood human_phenotype HP:0012184 The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. Elevated circulating HDL-C concentration HP:0012184 High blood HDL level Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. 2013-02-24T09:24:32Z UMLS:C4023009 human_phenotype Carpal tunnel syndrome HP:0012185 Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. Constrictive median neuropathy HP:0012185 Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. https://orcid.org/0000-0002-0736-9199 An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. 2013-02-24T09:27:57Z UMLS:C4023008 Cubital tunnel syndrome human_phenotype HP:0012186 Entrapment neuropathy of the ulnar nerve at elbow HP:0012186 An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand. https://orcid.org/0000-0002-0736-9199 Concentration of protoporphyrins in erythrocytes above the upper limit of normal. 2013-02-24T09:49:59Z UMLS:C4023007 human_phenotype HP:0012187 Increased erythrocyte protoporphyrin concentration HP:0012187 Concentration of protoporphyrins in erythrocytes above the upper limit of normal. PMID:18760763 https://orcid.org/0000-0002-0736-9199 Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. 2013-02-24T09:58:18Z SNOMEDCT_US:14094001 UMLS:C0020450 human_phenotype HP:0012188 Hyperemesis gravidarum HP:0012188 Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. OMIM:603373 https://orcid.org/0000-0002-0736-9199 A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. 2013-02-27T06:53:11Z SNOMEDCT_US:118599009 SNOMEDCT_US:118602004 SNOMEDCT_US:118605002 SNOMEDCT_US:118606001 SNOMEDCT_US:14537002 SNOMEDCT_US:46923007 SNOMEDCT_US:70600005 SNOMEDCT_US:74189002 UMLS:C0019829 Hodgkin disease Hodgkin's lymphoma human_phenotype HP:0012189 Hodgkin lymphoma HP:0012189 A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. https://orcid.org/0000-0002-0736-9199 A type of lymphoma that originates in T-cells. 2013-02-27T06:56:11Z SNOMEDCT_US:109978004 SNOMEDCT_US:3172003 UMLS:C0079772 T cell lymphoma human_phenotype HP:0012190 T-cell lymphoma HP:0012190 A type of lymphoma that originates in T-cells. https://orcid.org/0000-0002-0736-9199 A type of lymphoma that originates in B-cells. 2013-02-27T06:59:05Z SNOMEDCT_US:109979007 SNOMEDCT_US:1929004 SNOMEDCT_US:413616009 UMLS:C0079731 B cell lymphoma human_phenotype HP:0012191 B-cell lymphoma HP:0012191 A type of lymphoma that originates in B-cells. https://orcid.org/0000-0002-0736-9199 A type of T-cell lymphoma that exhibits malignant infiltration of the skin. 2013-02-27T07:03:19Z SNOMEDCT_US:28054005 SNOMEDCT_US:400122007 UMLS:C0079773 human_phenotype HP:0012192 Cutaneous T-cell lymphoma HP:0012192 A type of T-cell lymphoma that exhibits malignant infiltration of the skin. https://orcid.org/0000-0002-0736-9199 A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. 2013-02-27T07:15:32Z SNOMEDCT_US:277637000 SNOMEDCT_US:53237008 UMLS:C0206180 human_phenotype HP:0012193 Anaplastic large-cell lymphoma HP:0012193 A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. https://orcid.org/0000-0002-0736-9199 Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. 2013-02-27T07:26:26Z UMLS:C1863061 human_phenotype HP:0012194 Episodic hemiplegia HP:0012194 Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. https://orcid.org/0000-0002-0736-9199 Uneven rhythm of breathing. 2013-03-11T05:10:57Z SNOMEDCT_US:248585001 UMLS:C0425492 Irregular respiratory rhythm human_phenotype HP:0012195 Irregular respiration HP:0012195 Uneven rhythm of breathing. https://orcid.org/0000-0002-0736-9199 An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. 2013-03-11T07:00:56Z SNOMEDCT_US:271824009 SNOMEDCT_US:309155007 UMLS:C0008039 UMLS:C1313952 Cheyne-Stokes breathing Periodic respiration human_phenotype HP:0012196 Cheyne-Stokes respiration HP:0012196 An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. https://orcid.org/0000-0002-0736-9199 A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. 2013-03-11T07:06:29Z SNOMEDCT_US:25324008 SNOMEDCT_US:302822000 UMLS:C0021670 Pancreatic insulinoma human_phenotype HP:0012197 Insulinoma HP:0012197 A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. NCIT:C95598 https://orcid.org/0000-0002-0736-9199 The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. 2013-03-11T07:09:42Z UMLS:C4023006 human_phenotype HP:0012198 A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. Juvenile colonic polyposis HP:0012198 The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. PMID:17768394 PMID:25022750 https://orcid.org/0000-0002-0736-9199 A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. 2013-03-12T11:37:40Z ICD-10:G44.0 SNOMEDCT_US:193031009 SNOMEDCT_US:193947008 SNOMEDCT_US:230473009 UMLS:C0009088 human_phenotype HP:0012199 According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: (B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. (C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. (D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder. Cluster headache HP:0012199 A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs. PMID:21912573 https://orcid.org/0000-0002-0736-9199 ICD-10:G44.0 Cluster headache syndrome An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. 2013-03-12T11:48:06Z UMLS:C4023005 human_phenotype HP:0012200 Abnormality of prothrombin HP:0012200 An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade. https://orcid.org/0000-0002-0736-9199 HP:0008151 human_phenotype HP:0012201 obsolete Reduced prothrombin activity true HP:0012201 An increase in the concentration of bile acid in the blood. 2013-03-12T11:56:40Z UMLS:C4023004 human_phenotype HP:0012202 Increased serum bile acid concentration HP:0012202 An increase in the concentration of bile acid in the blood. https://orcid.org/0000-0002-0736-9199 Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. 2013-03-12T12:08:30Z SNOMEDCT_US:414941008 UMLS:C0040261 Onychomycosis Unusual nail candidiasis Unusual onychomycosis Unusual tinea unguium human_phenotype HP:0012203 Unusual fungal nail infection HP:0012203 Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. 2013-03-12T12:09:45Z UMLS:C4023003 human_phenotype HP:0012204 Recurrent vulvovaginal candidiasis HP:0012204 Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the acrosome resulting in a round sperm head. 2013-03-12T12:21:08Z SNOMEDCT_US:236818008 UMLS:C0403825 human_phenotype HP:0012205 Globozoospermia HP:0012205 Any structural anomaly of the acrosome resulting in a round sperm head. MP:0002686 https://orcid.org/0000-0002-0736-9199 An anomaly of the mobility of ejaculated sperm. 2013-03-12T12:23:21Z UMLS:C0855512 Abnormal sperm motility human_phenotype HP:0012206 Abnormal sperm motility HP:0012206 An anomaly of the mobility of ejaculated sperm. https://orcid.org/0000-0002-0736-9199 Abnormal sperm motility An abnormal reduction in the mobility of ejaculated sperm. 2013-03-12T12:23:59Z UMLS:C4023002 Asthenospermia Asthenozoospermia Reduced sperm motility human_phenotype HP:0012207 Reduced sperm motility HP:0012207 An abnormal reduction in the mobility of ejaculated sperm. https://orcid.org/0000-0002-0736-9199 Reduced sperm motility A lack of mobility of ejaculated sperm. 2013-03-12T12:24:28Z UMLS:C4023001 Nonmotile sperm human_phenotype HP:0012208 Immotile sperm HP:0012208 A lack of mobility of ejaculated sperm. https://orcid.org/0000-0002-0736-9199 Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. 2013-03-12T12:27:41Z SNOMEDCT_US:128832006 SNOMEDCT_US:277587001 SNOMEDCT_US:445227008 UMLS:C0349639 Juvenile myelomonocytic leukaemia human_phenotype HP:0012209 Juvenile myelomonocytic leukemia HP:0012209 Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. PMID:18954903 https://orcid.org/0000-0002-0736-9199 Juvenile myelomonocytic leukaemia Any structural anomaly of the kidney. 2013-03-14T07:41:11Z HP:0000792 HP:0004726 HP:0004735 HP:0008712 Fyler:4512 SNOMEDCT_US:44513007 UMLS:C0266292 Abnormal kidney morphology Abnormally shaped kidney Kidney malformation Kidney structure issue Renal malformation Structural anomalies of the renal tract Structural kidney abnormalities Structural renal anomalies human_phenotype HP:0012210 Abnormal renal morphology HP:0012210 Any structural anomaly of the kidney. https://orcid.org/0000-0002-0736-9199 Abnormal kidney morphology https://orcid.org/0000-0001-5208-3432 Abnormally shaped kidney https://orcid.org/0000-0001-5208-3432 Kidney malformation Kidney structure issue Structural kidney abnormalities An abnormal functionality of the kidney. 2013-03-14T07:43:34Z HP:0000082 HP:0000087 HP:0005566 HP:0008646 SNOMEDCT_US:39539005 UMLS:C0151746 Abnormal kidney function Abnormal renal function Abnormality of renal physiology Kidney function issue Renal functional abnormality human_phenotype HP:0012211 Abnormal renal physiology HP:0012211 An abnormal functionality of the kidney. https://orcid.org/0000-0002-0736-9199 Abnormal kidney function https://orcid.org/0000-0001-5208-3432 Abnormal renal function https://orcid.org/0000-0002-5316-1399 Kidney function issue An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:49:53Z UMLS:C0854050 Abnormal GFR human_phenotype HP:0012212 Glomerular filtration, the first step in urine formation, is the passive process of ultrafiltration of plasma from blood into Bowman's space as it traverses the glomerular capillaries. Because GFR varies by body size, it is indexed relative to an average body surface area (BSA) of 1.73 m2 and expressed as ml/min/per 1.73 m2. GFR cannot be measured directly; it can be assessed from clearance measurements or estimated from serum levels of endogenous filtration markers, such as creatinine or cystatin C. Clearance measurements require either multiple measurements of serum concentrations or timed urine collections and are not routinely performed. GFR is usually estimated from serum concentrations of a marker of filtration using GFR estimating equations. Abnormal glomerular filtration rate HP:0012212 An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. PMID:25710660 https://orcid.org/0000-0002-0736-9199 Abnormal GFR An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:54:30Z HP:0000120 UMLS:C0853068 Decreased GFR Impaired renal creatinine clearance Reduced creatinine clearance human_phenotype HP:0012213 Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. Decreased glomerular filtration rate HP:0012213 An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. PMID:25710660 https://orcid.org/0000-0002-0736-9199 Decreased GFR An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. 2013-03-14T07:55:03Z UMLS:C0856948 Increased GFR human_phenotype HP:0012214 Increased glomerular filtration rate HP:0012214 An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. https://orcid.org/0000-0002-0736-9199 Increased GFR The deposition of calcium phosphate microliths within the seminiferous tubules. 2013-03-14T08:07:36Z SNOMEDCT_US:117261000119108 UMLS:C1864873 human_phenotype HP:0012215 Testicular microlithiasis HP:0012215 The deposition of calcium phosphate microliths within the seminiferous tubules. https://orcid.org/0000-0002-0736-9199 An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. 2013-03-14T08:09:05Z SNOMEDCT_US:230635000 UMLS:C0393890 Suprascapular nerve entrapment human_phenotype HP:0012216 Entrapment neuropathy of suprascapular nerve HP:0012216 An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. https://orcid.org/0000-0002-0736-9199 The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. 2013-03-30T06:45:01Z UMLS:C4023000 human_phenotype HP:0012217 Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. Increased urinary porphobilinogen HP:0012217 The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:11861450 https://orcid.org/0000-0002-0736-9199 A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. 2013-03-30T06:48:50Z SNOMEDCT_US:404056007 SNOMEDCT_US:88195001 UMLS:C0206657 human_phenotype HP:0012218 Alveolar soft part sarcoma HP:0012218 A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. PMID:11244503 https://orcid.org/0000-0002-0736-9199 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. 2013-03-30T06:57:07Z SNOMEDCT_US:32861005 UMLS:C0014743 human_phenotype HP:0012219 The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. Erythema nodosum HP:0012219 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. https://orcid.org/0000-0002-0736-9199 The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). 2013-03-30T07:04:43Z UMLS:C4022999 human_phenotype HP:0012220 This feature is a hallmark of sarcoidosis. Non-caseating epithelioid cell granulomatosis HP:0012220 The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese). https://orcid.org/0000-0002-0736-9199 A type of blistering that affects the skin of the tibial region. 2013-03-30T07:10:17Z SNOMEDCT_US:67653003 UMLS:C0432321 Pretibial epidermolysis bullosa human_phenotype HP:0012221 Pretibial blistering HP:0012221 A type of blistering that affects the skin of the tibial region. PMID:15265795 https://orcid.org/0000-0002-0736-9199 The presence of multiple hemangiomas in the arachnoid. 2013-03-30T07:17:01Z UMLS:C4022998 human_phenotype HP:0012222 Arachnoid hemangiomatosis HP:0012222 The presence of multiple hemangiomas in the arachnoid. https://orcid.org/0000-0002-0736-9199 A breach of the capsule of the spleen. 2013-03-30T07:23:49Z SNOMEDCT_US:234506007 UMLS:C0038000 Ruptured spleen Splenic rupture human_phenotype HP:0012223 Splenic rupture HP:0012223 A breach of the capsule of the spleen. https://orcid.org/0000-0002-0736-9199 Ruptured spleen Splenic rupture Persistence of immune complexes in the blood circulation. 2013-03-30T07:27:21Z UMLS:C3887628 human_phenotype HP:0012224 Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. Circulating immune complexes HP:0012224 Persistence of immune complexes in the blood circulation. https://orcid.org/0000-0002-0736-9199 Reduced number of primary teeth. 2013-03-30T07:31:16Z UMLS:C4022997 UMLS:C4280316 Failure of development of some deciduous teeth Failure of development of some primary teeth Partial anodontia of deciduous teeth Partial anodontia of primary teeth human_phenotype Decreased number of baby teeth Decreased number of deciduous teeth Decreased number of milk teeth Decreased number of primary teeth Fewer baby teeth than normal Fewer deciduous teeth than normal Fewer primary teeth than normal Missing some baby teeth Missing some milk teeth Missing some primary teeth HP:0012225 Primary teeth are also called temporary teeth or deciduous teeth. Oligodontia of primary teeth HP:0012225 Reduced number of primary teeth. https://orcid.org/0000-0002-0736-9199 Failure of development of some deciduous teeth https://orcid.org/0000-0001-5889-4463 Failure of development of some primary teeth https://orcid.org/0000-0001-5889-4463 Partial anodontia of deciduous teeth https://orcid.org/0000-0001-5889-4463 Partial anodontia of primary teeth https://orcid.org/0000-0001-5889-4463 Decreased number of baby teeth https://orcid.org/0000-0001-5889-4463 Decreased number of deciduous teeth https://orcid.org/0000-0001-5889-4463 Decreased number of milk teeth https://orcid.org/0000-0001-5889-4463 Decreased number of primary teeth https://orcid.org/0000-0001-5889-4463 Fewer baby teeth than normal https://orcid.org/0000-0001-5889-4463 Fewer deciduous teeth than normal https://orcid.org/0000-0001-5889-4463 Fewer primary teeth than normal https://orcid.org/0000-0001-5889-4463 Missing some baby teeth https://orcid.org/0000-0001-5889-4463 Missing some milk teeth https://orcid.org/0000-0001-5889-4463 Missing some primary teeth https://orcid.org/0000-0001-5889-4463 The presence of a teratoma in the ovary. 2013-03-30T07:34:29Z NCIT:C3403 SNOMEDCT_US:716077006 UMLS:C0280131 human_phenotype HP:0012226 Ovarian teratoma HP:0012226 The presence of a teratoma in the ovary. https://orcid.org/0000-0002-0736-9199 Narrowing of the urethra associated with inflammation or scar tissue. 2013-03-30T07:37:46Z SNOMEDCT_US:236647003 SNOMEDCT_US:76618002 UMLS:C0041974 human_phenotype HP:0012227 A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). All strictures result from injury to the epithelium of the urethra or underlying corpus spongiosum, which ultimately causes fibrosis during the healing process. The pathological changes associated with strictures show that the normal pseudostratified columnar epithelium is replaced with squamous metaplasia. Small tears in this metaplastic tissue result in urinary extravasation, which causes a fibrotic reaction within the spongiosum. At the time of injury, this fibrosis can be asymptomatic; however, over time, the fibrotic process can cause further narrowing of the lumen of the urethra, resulting in symptomatic obstructive voiding. Urethral stricture HP:0012227 Narrowing of the urethra associated with inflammation or scar tissue. PMID:24346008 https://orcid.org/0000-0002-0736-9199 A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. 2013-03-30T07:50:13Z ICD-10:G44.2 SNOMEDCT_US:398057008 SNOMEDCT_US:66551002 UMLS:C0033893 Tension-type headache human_phenotype HP:0012228 Tension-type headache HP:0012228 A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs. https://orcid.org/0000-0002-0736-9199 ICD-10:G44.2 Tension-type headache Tension-type headache An increased white blood cell count in the cerebrospinal fluid. 2013-03-31T09:01:55Z SNOMEDCT_US:91454002 UMLS:C0151857 Cerebrospinal fluid pleocytosis Increased leukocyte count in CSF human_phenotype HP:0012229 CSF pleocytosis HP:0012229 An increased white blood cell count in the cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Increased leukocyte count in CSF https://orcid.org/0000-0001-5208-3432 A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. 2013-03-31T09:20:35Z SNOMEDCT_US:19620000 UMLS:C0271055 human_phenotype HP:0012230 Rhegmatogenous retinal detachment HP:0012230 A type of retinal detachment associated with a full-thickness defect in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. https://orcid.org/0000-0002-0736-9199 A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow. 2013-03-31T09:24:20Z HP:0007898 SNOMEDCT_US:38599001 UMLS:C0154822 Exudative retinal detachment Non-rhegmatogenous retinal detachment human_phenotype Exudative retinopathy HP:0012231 Serous retinal detachment HP:0012231 A type of retinal detachment such that fluid is present in the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. It is not associated with a full-thickness break nor a tractional component. Due to breakdown of outer blood-retina barrier or increased exudation from abnormal vasculature or defective outflow. https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-0986-4123 Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). 2013-03-31T09:34:21Z SNOMEDCT_US:77867006 UMLS:C0151879 human_phenotype HP:0012232 Shortened QT interval HP:0012232 Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). https://orcid.org/0000-0002-0736-9199 Blood clot formed within muscle tissue following leakage of blood into the tissue. 2013-03-31T09:38:57Z SNOMEDCT_US:262969000 UMLS:C0240412 IM hematoma Intramuscular haematoma human_phenotype Intramuscular hematomas HP:0012233 Intramuscular hematoma HP:0012233 Blood clot formed within muscle tissue following leakage of blood into the tissue. https://orcid.org/0000-0002-0736-9199 IM hematoma Intramuscular hematomas https://orcid.org/0000-0002-5316-1399 Absence of detectable circulating granulocytes in the blood. Usually a value of less than 50 cells per microliter is considered to be an absence. 2013-03-31T09:42:50Z UMLS:C0702094 Agranulocytosis human_phenotype HP:0012234 Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. Absence of circulating granulocytes HP:0012234 Absence of detectable circulating granulocytes in the blood. Usually a value of less than 50 cells per microliter is considered to be an absence. https://orcid.org/0000-0002-0736-9199 Absence of detectable circulating granulocytes in the blood caused by an exposure to a drug. Usually a value of less than 50 granulocytes per microliter is considered to be an absence. 2013-03-31T09:44:55Z SNOMEDCT_US:47318007 UMLS:C0272178 human_phenotype HP:0012235 Drug-induced agranulocytosis HP:0012235 Absence of detectable circulating granulocytes in the blood caused by an exposure to a drug. Usually a value of less than 50 granulocytes per microliter is considered to be an absence. https://orcid.org/0000-0002-0736-9199 An increased concentration of chloride in the sweat. 2013-03-31T09:50:28Z UMLS:C1856646 Elevated sweat Cl Elevated sweat Cl- Elevated sweat chloride human_phenotype HP:0012236 Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. Elevated sweat chloride HP:0012236 An increased concentration of chloride in the sweat. https://orcid.org/0000-0002-0736-9199 Elevated sweat Cl https://orcid.org/0000-0001-7941-2961 Elevated sweat Cl- https://orcid.org/0000-0001-7941-2961 Elevated sweat chloride An increased concentration of urocanic acid in the urine. 2013-03-31T09:54:48Z SNOMEDCT_US:60952007 UMLS:C0268514 High urine urocanic acid levels human_phenotype HP:0012237 Urocanic aciduria HP:0012237 An increased concentration of urocanic acid in the urine. https://orcid.org/0000-0002-0736-9199 High urine urocanic acid levels https://orcid.org/0000-0001-5208-3432 Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. 2013-03-31T04:17:11Z UMLS:C1535978 Hyperchylomicronemia Increased chylomicrons Increased circulating chylomicron levels human_phenotype HP:0012238 Increased circulating chylomicron concentration HP:0012238 Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. MP:0009699 https://orcid.org/0000-0002-0736-9199 Absence of transferrin, a protein that transports iron, in the blood. 2013-03-31T04:20:43Z SNOMEDCT_US:111571009 UMLS:C0521802 human_phenotype HP:0012239 Atransferrinemia HP:0012239 Absence of transferrin, a protein that transports iron, in the blood. https://orcid.org/0000-0002-0736-9199 An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. 2013-04-01T05:17:37Z UMLS:C4020730 human_phenotype Increased muscle lipid droplets HP:0012240 In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibers than in type 2 fibers. Increased intramyocellular lipid droplets HP:0012240 An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. PMID:20691590 https://orcid.org/0000-0002-0736-9199 Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. 2013-04-02T06:53:20Z UMLS:C1851107 human_phenotype HP:0012241 Levator palpebrae superioris atrophy HP:0012241 Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. https://orcid.org/0000-0002-0736-9199 Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. 2013-04-02T06:55:22Z UMLS:C1851108 Rectus superior atrophy human_phenotype HP:0012242 Superior rectus atrophy HP:0012242 Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. https://orcid.org/0000-0002-0736-9199 A structural or developmental anomaly of any of the tissues involved in the genital system. 2013-04-02T07:02:20Z UMLS:C4021096 Abnormal genital system morphology human_phenotype HP:0012243 Abnormal reproductive system morphology HP:0012243 A structural or developmental anomaly of any of the tissues involved in the genital system. MP:0002160 https://orcid.org/0000-0002-0736-9199 Anomaly of primary or secondary sexual development or characteristics. 2013-04-02T07:03:45Z UMLS:C4022996 human_phenotype HP:0012244 Abnormal sex determination HP:0012244 Anomaly of primary or secondary sexual development or characteristics. MP:0002210 https://orcid.org/0000-0002-0736-9199 Development of the reproductive system is inconsistent with the chromosomal sex. 2013-04-02T07:04:44Z UMLS:C4022995 human_phenotype HP:0012245 Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. Sex reversal HP:0012245 Development of the reproductive system is inconsistent with the chromosomal sex. MP:0005652 https://orcid.org/0000-0002-0736-9199 Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). 2013-04-02T07:15:18Z SNOMEDCT_US:388980004 UMLS:C0028866 human_phenotype Oculomotor neuropathy HP:0012246 Oculomotor nerve palsy HP:0012246 Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). https://orcid.org/0000-0002-0736-9199 Anosmia for one particular odor. 2013-04-02T07:20:11Z UMLS:C4022994 human_phenotype HP:0012247 Specific anosmia HP:0012247 Anosmia for one particular odor. https://orcid.org/0000-0002-0736-9199 Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). 2013-04-07T08:52:29Z SNOMEDCT_US:164947007 UMLS:C0600125 Electrocardiographic long PR interval Lengthened PR interval on EKG human_phenotype HP:0012248 In adults, normal values are 120 to 200 ms long. Prolonged PR interval HP:0012248 Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). PMID:23677846 https://orcid.org/0000-0002-0736-9199 An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. 2013-04-07T08:56:46Z UMLS:C4022993 human_phenotype HP:0012249 Abnormal ST segment HP:0012249 An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment. https://orcid.org/0000-0002-0736-9199 An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. 2013-04-07T08:59:59Z SNOMEDCT_US:26141007 SNOMEDCT_US:429622005 UMLS:C0520887 human_phenotype HP:0012250 ST segment depression HP:0012250 An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. https://orcid.org/0000-0002-0736-9199 An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. 2013-04-07T09:03:06Z SNOMEDCT_US:164931005 SNOMEDCT_US:76388001 UMLS:C0520886 human_phenotype HP:0012251 ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. ST segment elevation HP:0012251 An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the respiratory system. 2013-04-07T09:11:09Z Fyler:4235 UMLS:C4022992 human_phenotype HP:0012252 Abnormal respiratory system morphology HP:0012252 A structural anomaly of the respiratory system. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. 2013-04-07T09:12:48Z UMLS:C4022991 human_phenotype HP:0012253 Abnormal respiratory epithelium morphology HP:0012253 Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi. MP:0010942 https://orcid.org/0000-0002-0736-9199 A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. 2013-04-07T01:54:14Z SNOMEDCT_US:76909002 UMLS:C0553580 Ewing's sarcoma human_phenotype HP:0012254 Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. Ewing sarcoma HP:0012254 A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. PMID:17272319 https://orcid.org/0000-0002-0736-9199 An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. 2013-04-07T09:20:03Z UMLS:C4022990 human_phenotype HP:0012255 The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. Dynein arm defect of respiratory motile cilia HP:0012255 An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. PMID:19606528 https://orcid.org/0000-0002-0736-9199 Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. 2013-04-07T09:35:55Z UMLS:C4022989 human_phenotype HP:0012256 Absent outer dynein arms HP:0012256 Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. PMID:19606528 https://orcid.org/0000-0002-0736-9199 Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. 2013-04-07T09:38:46Z UMLS:C4022988 human_phenotype HP:0012257 Absent inner dynein arms HP:0012257 Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. PMID:19606528 https://orcid.org/0000-0002-5316-1399 Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. 2013-04-07T09:49:56Z UMLS:C4022987 Abnormal axonemal organisation of respiratory motile cilia human_phenotype HP:0012258 Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. Abnormal axonemal organization of respiratory motile cilia HP:0012258 Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. PMID:19606528 https://orcid.org/0000-0002-0736-9199 Abnormal axonemal organisation of respiratory motile cilia Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. 2013-04-07T09:40:14Z UMLS:C4022986 human_phenotype HP:0012259 Absent inner and outer dynein arms HP:0012259 Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. PMID:19606528 https://orcid.org/0000-0002-0736-9199 A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. 2013-04-07T09:58:27Z UMLS:C4022985 human_phenotype HP:0012260 The central microtubular pair is referred to as the central part of axoneme of cilium. Abnormal central microtubular pair morphology of respiratory motile cilia HP:0012260 A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. PMID:19200523 https://orcid.org/0000-0002-0736-9199 Any functional anomaly of the respiratory motile cilia. 2013-04-07T10:05:43Z UMLS:C4022984 human_phenotype HP:0012261 Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. Abnormal respiratory motile cilium physiology HP:0012261 Any functional anomaly of the respiratory motile cilia. MP:0011055 https://orcid.org/0000-0002-0736-9199 Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. 2013-04-07T10:10:35Z UMLS:C4022983 human_phenotype HP:0012262 Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. Abnormal ciliary motility HP:0012262 Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. PMID:19606528 PMID:20301301 https://orcid.org/0000-0002-0736-9199 2013-04-07T10:11:17Z UMLS:C1855672 human_phenotype HP:0012263 Immotile cilia HP:0012263 Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. 2013-04-07T10:12:06Z UMLS:C4022982 human_phenotype HP:0012264 Absent central microtubular pair morphology of respiratory motile cilia HP:0012264 Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. https://orcid.org/0000-0002-0736-9199 A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. 2013-04-07T10:14:07Z SNOMEDCT_US:86204009 UMLS:C0008780 Lack of coordinated beating of respiratory cilia human_phenotype HP:0012265 Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. Ciliary dyskinesia HP:0012265 A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. PMID:19606528 https://orcid.org/0000-0002-0736-9199 A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. 2013-04-07T10:23:08Z SNOMEDCT_US:428550008 UMLS:C1998313 human_phenotype HP:0012266 T-wave alternans HP:0012266 A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. PMID:17592081 https://orcid.org/0000-0002-0736-9199 Absence of the radial spokes of the axoneme of the respiratory cilium. 2013-04-07T01:56:53Z UMLS:C4022981 human_phenotype HP:0012267 Absent respiratory ciliary axoneme radial spokes HP:0012267 Absence of the radial spokes of the axoneme of the respiratory cilium. PMID:19606528 https://orcid.org/0000-0002-0736-9199 A liposarcoma that contains myxomatous tissue. 2013-04-07T01:59:19Z SNOMEDCT_US:27849002 SNOMEDCT_US:404069006 UMLS:C0206634 human_phenotype HP:0012268 Myxoid liposarcoma HP:0012268 A liposarcoma that contains myxomatous tissue. https://orcid.org/0000-0002-0736-9199 Any anomaly in the amount of glycogen in muscle tissue. 2013-04-07T02:04:03Z UMLS:C4022980 human_phenotype HP:0012269 Glycogen functions as a secondary short term energy storage in muscle. Abnormal muscle glycogen content HP:0012269 Any anomaly in the amount of glycogen in muscle tissue. https://orcid.org/0000-0002-0736-9199 A decreased amount of glycogen in muscle tissue. 2013-04-07T02:05:15Z UMLS:C4022979 human_phenotype HP:0012270 Decreased muscle glycogen content HP:0012270 A decreased amount of glycogen in muscle tissue. https://orcid.org/0000-0002-0736-9199 Intermittent episodes of increased resistance to the passage of air in the upper airway. 2013-04-07T02:08:33Z UMLS:C4022978 human_phenotype HP:0012271 Episodic upper airway obstruction HP:0012271 Intermittent episodes of increased resistance to the passage of air in the upper airway. https://orcid.org/0000-0002-0736-9199 The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. 2013-04-07T02:11:05Z UMLS:C4018858 EKG J waves Osborne waves human_phenotype HP:0012272 J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. J wave HP:0012272 The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. PMID:19561994 https://orcid.org/0000-0002-0736-9199 An increase in the combined thickness of the intima and media of the carotid artery. 2013-04-07T02:16:23Z UMLS:C4022977 human_phenotype HP:0012273 This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. Increased carotid artery intimal medial thickness HP:0012273 An increase in the combined thickness of the intima and media of the carotid artery. PMID:9878640 https://orcid.org/0000-0002-0736-9199 A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. 2013-04-07T02:19:07Z UMLS:C4022976 human_phenotype HP:0012274 Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. Autosomal dominant inheritance with paternal imprinting HP:0012274 A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing. PMID:18678320 https://orcid.org/0000-0002-0736-9199 A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. 2013-04-07T02:54:09Z UMLS:C4022975 human_phenotype HP:0012275 Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. Autosomal dominant inheritance with maternal imprinting HP:0012275 A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. https://orcid.org/0000-0002-0736-9199 Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. 2013-04-07T03:02:33Z UMLS:C4022974 Trigger finger human_phenotype HP:0012276 Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly. Digital flexor tenosynovitis HP:0012276 Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. PMID:16443118 https://orcid.org/0000-0002-0736-9199 Trigger finger An abnormally reduced concentration of glycine in the blood. 2013-04-07T03:54:41Z UMLS:C4022973 Low blood glycine levels human_phenotype HP:0012277 Hypoglycinemia HP:0012277 An abnormally reduced concentration of glycine in the blood. https://orcid.org/0000-0002-0736-9199 Low blood glycine levels https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of serine in the blood circulation. 2013-04-07T03:57:10Z UMLS:C4022972 human_phenotype HP:0012278 Abnormal circulating serine concentration HP:0012278 Any deviation from the normal concentration of serine in the blood circulation. https://orcid.org/0000-0002-0736-9199 Reduced concentration of serine in the blood. 2013-04-07T03:57:25Z UMLS:C4022971 Low blood serine levels human_phenotype HP:0012279 Hyposerinemia HP:0012279 Reduced concentration of serine in the blood. https://orcid.org/0000-0002-0736-9199 Low blood serine levels https://orcid.org/0000-0001-5208-3432 A form of amyloidosis that affects the liver. 2013-04-07T03:59:46Z SNOMEDCT_US:9551004 UMLS:C0267839 human_phenotype HP:0012280 Hepatic amyloidosis HP:0012280 A form of amyloidosis that affects the liver. https://orcid.org/0000-0002-0736-9199 Extravasation of chyle into the peritoneal cavity. 2013-04-07T04:08:42Z SNOMEDCT_US:52985009 UMLS:C0008732 Chyloperitoneum human_phenotype HP:0012281 Chylous ascites HP:0012281 Extravasation of chyle into the peritoneal cavity. https://orcid.org/0000-0002-0736-9199 An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. 2013-04-07T10:11:58Z SNOMEDCT_US:247470007 SNOMEDCT_US:50495000 UMLS:C0234918 human_phenotype HP:0012282 A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. Morbilliform rash HP:0012282 An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. https://orcid.org/0000-0002-0736-9199 Reduced size of the Distal epiphysis of femur. 2013-04-09T07:33:19Z UMLS:C4022970 Small end part of outermost thighbone human_phenotype HP:0012283 Small distal femoral epiphysis HP:0012283 Reduced size of the Distal epiphysis of femur. https://orcid.org/0000-0002-0736-9199 Small end part of outermost thighbone https://orcid.org/0000-0001-5208-3432 Reduced size of the proximal epiphysis of the tibia. 2013-04-09T07:36:38Z UMLS:C4022969 Small end part of innermost shankbone Small end part of innermost shinbone human_phenotype HP:0012284 Small proximal tibial epiphyses HP:0012284 Reduced size of the proximal epiphysis of the tibia. https://orcid.org/0000-0002-0736-9199 Small end part of innermost shankbone https://orcid.org/0000-0001-5208-3432 Small end part of innermost shinbone https://orcid.org/0000-0001-5208-3432 An abnormal functionality of the hypothalamus. 2013-04-09T07:51:07Z UMLS:C4022968 human_phenotype HP:0012285 The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. Abnormal hypothalamus physiology HP:0012285 An abnormal functionality of the hypothalamus. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the hypothalamus. 2013-04-09T07:53:16Z HP:0002443 UMLS:C4021095 Abnormal shape of hypothalamus Abnormality of hypothalamus morphology Abnormality of the hypothalamus human_phenotype HP:0012286 The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. Abnormal hypothalamus morphology HP:0012286 Any structural anomaly of the hypothalamus. https://orcid.org/0000-0002-0736-9199 Abnormal shape of hypothalamus https://orcid.org/0000-0001-5208-3432 Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. 2013-04-09T07:54:46Z UMLS:C4022967 human_phenotype HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency HP:0012287 Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. 2013-04-11T05:44:24Z SNOMEDCT_US:255055008 SNOMEDCT_US:255056009 UMLS:C0018671 UMLS:C0278996 Head and neck tumor Head and neck tumour human_phenotype Head and neck cancer HP:0012288 Neoplasm of head and neck HP:0012288 A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. https://orcid.org/0000-0002-0736-9199 Head and neck tumor https://orcid.org/0000-0001-5208-3432 Head and neck tumour A tumor (abnormal growth of tissue) of the face. 2013-04-11T05:46:35Z NCIT:C3262 SNOMEDCT_US:126632002 UMLS:C0015461 Face tumor Face tumour human_phenotype HP:0012289 Facial neoplasm HP:0012289 A tumor (abnormal growth of tissue) of the face. https://orcid.org/0000-0002-0736-9199 Face tumor https://orcid.org/0000-0001-5208-3432 Face tumour HP:0100649 2013-04-11T05:48:12Z human_phenotype HP:0012290 obsolete Mouth neoplasm true HP:0012290 HP:0100551 2013-04-11T05:49:21Z human_phenotype HP:0012291 obsolete Tracheal neoplasm true HP:0012291 A congenital defect with an abnormal joining of the gums of the upper and lower jaw. 2013-04-11T05:52:35Z UMLS:C4022966 Fusion of gums Fusion of the gingiva Gingival synechia Partial fusion of the gums Synechia of the gums Upper and lower gums fused together human_phenotype HP:0012292 Fusion of gums HP:0012292 A congenital defect with an abnormal joining of the gums of the upper and lower jaw. PMID:19858676 https://orcid.org/0000-0002-0736-9199 Fusion of gums Fusion of the gingiva https://orcid.org/0000-0001-5889-4463 Gingival synechia https://orcid.org/0000-0001-5889-4463 Partial fusion of the gums https://orcid.org/0000-0001-5889-4463 Synechia of the gums https://orcid.org/0000-0001-5889-4463 Upper and lower gums fused together https://orcid.org/0000-0001-5889-4463 An abnormal pigmentation pattern of the external genitalia. 2013-04-11T06:02:08Z UMLS:C4022965 human_phenotype HP:0012293 Abnormal genital pigmentation HP:0012293 An abnormal pigmentation pattern of the external genitalia. https://orcid.org/0000-0002-0736-9199 Abnormality of the occipital bone of the skull. 2013-04-11T06:21:12Z UMLS:C4022964 Abnormality of the occipital bone human_phenotype HP:0012294 Abnormal occipital bone morphology HP:0012294 Abnormality of the occipital bone of the skull. https://orcid.org/0000-0002-0736-9199 Reduced diameter of the middle phalanx of finger. 2013-04-12T05:40:22Z UMLS:C4022963 Slender middle bone of finger human_phenotype HP:0012295 Slender middle phalanx of finger HP:0012295 Reduced diameter of the middle phalanx of finger. https://orcid.org/0000-0002-0736-9199 Slender middle bone of finger https://orcid.org/0000-0001-5208-3432 Reduced diameter of the distal phalanx of finger. 2013-04-12T05:42:46Z UMLS:C4022962 Slender outermost bone of finger human_phenotype HP:0012296 Slender distal phalanx of finger HP:0012296 Reduced diameter of the distal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Slender outermost bone of finger https://orcid.org/0000-0001-5208-3432 Reduced diameter of the proximal phalanx of finger. 2013-04-12T05:45:35Z UMLS:C4022961 Slender innermost bone of finger human_phenotype HP:0012297 Slender proximal phalanx of finger HP:0012297 Reduced diameter of the proximal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Slender innermost bone of finger https://orcid.org/0000-0001-5208-3432 Increased length of the middle phalanx of finger. 2013-04-12T05:46:43Z UMLS:C4022960 Long middle bone of finger human_phenotype HP:0012298 Long middle phalanx of finger HP:0012298 Increased length of the middle phalanx of finger. https://orcid.org/0000-0002-0736-9199 Long middle bone of finger https://orcid.org/0000-0001-5208-3432 Increased length of the distal phalanx of finger. 2013-04-12T05:48:52Z UMLS:C4021865 Long outermost bone of finger human_phenotype HP:0012299 Long distal phalanx of finger HP:0012299 Increased length of the distal phalanx of finger. https://orcid.org/0000-0002-0736-9199 Long outermost bone of finger https://orcid.org/0000-0001-5208-3432 Failure of the ureter to undergo development. 2013-04-13T06:00:10Z UMLS:C4022959 human_phenotype HP:0012300 Ureteral agenesis HP:0012300 Failure of the ureter to undergo development. https://orcid.org/0000-0002-0736-9199 Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. 2013-04-14T08:55:20Z UMLS:C4021094 Abnormal isoelectric focusing of serum transferrin, type II pattern Isoelectric focusing of serum transferrin consistent with CDG type II Type 2 transferrin isoform profile human_phenotype Abnormal isoelectric focusing of serum transferrin, type 2 pattern HP:0012301 There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. Type II transferrin isoform profile HP:0012301 Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. PMID:15105360 PMID:22516080 https://orcid.org/0000-0002-0736-9199 Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. 2013-04-14T02:43:10Z HP:0020098 SNOMEDCT_US:428638009 UMLS:C0276226 Herpes encephalitis Herpes simplex encephalitis human_phenotype HP:0012302 Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. Herpes encephalitis may occur in immunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide. HSV encephalitis HP:0012302 Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction. PMID:27106239 https://orcid.org/0000-0002-0736-9199 An anomaly of the arch of aorta. 2013-08-06T10:06:07Z Fyler:2700 SNOMEDCT_US:448742006 UMLS:C3163801 Abnormality of the aortic arch human_phenotype HP:0012303 Abnormal aortic arch morphology HP:0012303 An anomaly of the arch of aorta. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the arch of aorta. 2013-08-06T10:10:36Z Fyler:2704 SNOMEDCT_US:60787001 UMLS:C0265881 Aortic arch hypoplasia Underdeveloped aortic arch human_phenotype HP:0012304 Hypoplastic aortic arch HP:0012304 Underdevelopment of the arch of aorta. https://orcid.org/0000-0002-0736-9199 Underdeveloped aortic arch https://orcid.org/0000-0001-5208-3432 Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. 2013-08-06T10:34:15Z UMLS:C4022958 human_phenotype HP:0012305 Coarctation of the descending aortic arch HP:0012305 Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. https://orcid.org/0000-0002-0736-9199 An anomaly of the process of rib bone formation. 2013-08-10T09:31:03Z UMLS:C4022957 human_phenotype Abnormal maturation of rib bones HP:0012306 Abnormal rib ossification HP:0012306 An anomaly of the process of rib bone formation. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of rib bones https://orcid.org/0000-0001-5208-3432 Ribs that are increased in width and taper to the posterior ends. 2013-08-10T10:15:15Z UMLS:C1856637 human_phenotype HP:0012307 This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. Spatulate ribs HP:0012307 Ribs that are increased in width and taper to the posterior ends. PMID:20504305 https://orcid.org/0000-0002-0736-9199 Concentration of the complement component C9 in the blood circulation below the lower limit of normal. 2013-08-10T11:07:25Z UMLS:C4021093 Decreased serum C9 Decreased serum complement C9 human_phenotype HP:0012308 Decreased circulating complement C9 concentration HP:0012308 Concentration of the complement component C9 in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview The presence of amyloid deposition in the superficial dermis. 2013-08-10T11:59:57Z SNOMEDCT_US:201337008 SNOMEDCT_US:281882003 SNOMEDCT_US:282834007 SNOMEDCT_US:718105008 UMLS:C0268397 human_phenotype HP:0012309 Cutaneous amyloidosis HP:0012309 The presence of amyloid deposition in the superficial dermis. PMID:19690585 https://orcid.org/0000-0002-0736-9199 Abnormal increase or decrease of total monocytes, or their phenotype, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. 2013-08-10T12:07:14Z SNOMEDCT_US:165540007 SNOMEDCT_US:165541006 UMLS:C0580319 Abnormal monocyte number human_phenotype HP:0012310 Mmonocytes are myeloid mononuclear recirculating leukocytes that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. Abnormal monocyte count HP:0012310 Abnormal increase or decrease of total monocytes, or their phenotype, in the blood, compared to a reference range for a given sex and age-group, measured ex vivo. https://orcid.org/0000-0002-0736-9199 Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. 2013-08-10T12:09:16Z SNOMEDCT_US:19636003 UMLS:C0085702 High blood monocyte number Monocytosis human_phenotype HP:0012311 Increased total monocyte count HP:0012311 Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 High blood monocyte number https://orcid.org/0000-0001-5208-3432 Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. 2013-08-10T12:10:07Z SNOMEDCT_US:165539005 UMLS:C0427544 Low blood monocyte number Monocytopenia human_phenotype HP:0012312 Decreased total monocyte count HP:0012312 Abnormal decrease of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 Low blood monocyte number https://orcid.org/0000-0001-5208-3432 Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. 2013-08-10T12:19:59Z SNOMEDCT_US:371598009 UMLS:C0018862 Heberden's node human_phenotype HP:0012313 Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate. Heberden node HP:0012313 Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. PMID:10531070 PMID:17488856 PMID:18390583 PMID:9709182 https://orcid.org/0000-0002-0736-9199 Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. 2013-08-10T12:27:25Z SNOMEDCT_US:20243008 UMLS:C0263780 Bouchard's node human_phenotype HP:0012314 Heberden's nodes are generally a sign of osteoarthritis. Bouchard node HP:0012314 Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. PMID:10531070 PMID:9709182 https://orcid.org/0000-0002-0736-9199 A neoplasm containing histiocytes. 2013-08-10T12:30:05Z SNOMEDCT_US:128741006 SNOMEDCT_US:302843004 UMLS:C1509147 human_phenotype HP:0012315 Histiocytoma HP:0012315 A neoplasm containing histiocytes. https://orcid.org/0000-0002-0736-9199 Any neoplasm composed of fibrous tissue. 2013-08-10T12:31:38Z UMLS:C0206643 human_phenotype HP:0012316 Fibrous tissue neoplasm HP:0012316 Any neoplasm composed of fibrous tissue. https://orcid.org/0000-0002-0736-9199 Inflammation of the sacroiliac joint, generally accompanied by lower back pain. 2013-08-10T12:58:43Z UMLS:C0748473 Sacroiliitis human_phenotype HP:0012317 Sacroiliac arthritis HP:0012317 Inflammation of the sacroiliac joint, generally accompanied by lower back pain. https://orcid.org/0000-0002-0736-9199 A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side. 2013-08-10T01:07:45Z SNOMEDCT_US:71760005 UMLS:C0007863 human_phenotype HP:0012318 Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. Occipital neuralgia HP:0012318 A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side. PMID:21569290 https://orcid.org/0000-0002-0736-9199 Lack of skin pigmentation (coloring) of the abdomen. 2013-08-10T08:21:54Z UMLS:C4022956 human_phenotype HP:0012319 Absent pigmentation of the abdomen HP:0012319 Lack of skin pigmentation (coloring) of the abdomen. https://orcid.org/0000-0002-0736-9199 Lack of skin pigmentation (coloring) of the arms and legs. 2013-08-10T08:22:30Z UMLS:C4022955 human_phenotype HP:0012320 Absent pigmentation of the limbs HP:0012320 Lack of skin pigmentation (coloring) of the arms and legs. https://orcid.org/0000-0002-0736-9199 An increased concentration of 2-hydroxyglutaric acid in the urine. 2013-08-11T08:46:46Z SNOMEDCT_US:237960000 UMLS:C1833429 human_phenotype HP:0012321 D-2-hydroxyglutaric aciduria HP:0012321 An increased concentration of 2-hydroxyglutaric acid in the urine. PMID:20847235 https://orcid.org/0000-0002-0736-9199 Inflammation surrounding hair follicles. 2013-08-11T09:25:58Z SNOMEDCT_US:83341004 UMLS:C0263006 Perifollicular inflammation human_phenotype HP:0012322 Perifolliculitis HP:0012322 Inflammation surrounding hair follicles. https://orcid.org/0000-0002-0736-9199 Myoclonus that occurs during the initial phases of sleep. 2013-08-11T10:21:47Z SNOMEDCT_US:34101000119105 UMLS:C0751352 human_phenotype HP:0012323 Sleep myoclonus HP:0012323 Myoclonus that occurs during the initial phases of sleep. https://orcid.org/0000-0002-0736-9199 A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. 2013-08-12T06:38:18Z SNOMEDCT_US:128934006 SNOMEDCT_US:188732008 SNOMEDCT_US:37810007 UMLS:C0023470 Myeloid leukaemia human_phenotype HP:0012324 Myeloid leukemia HP:0012324 A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. https://orcid.org/0000-0002-0736-9199 Myeloid leukaemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. 2013-08-12T06:45:11Z SNOMEDCT_US:127225006 SNOMEDCT_US:128831004 UMLS:C0023480 Chronic myelomonocytic leukaemia human_phenotype HP:0012325 Chronic myelomonocytic leukemia HP:0012325 A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. NCIT:C3178 Chronic myelomonocytic leukaemia An anomaly of the celiac artery. 2013-08-12T08:47:21Z UMLS:C4022954 Abnormal coeliac artery morphology Abnormality of the celiac artery Abnormality of the coeliac artery human_phenotype HP:0012326 The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. Abnormal celiac artery morphology HP:0012326 An anomaly of the celiac artery. https://orcid.org/0000-0002-0736-9199 Abnormal coeliac artery morphology Abnormality of the coeliac artery Compression of the celiac artery. 2013-08-12T08:49:18Z SNOMEDCT_US:9250002 UMLS:C0152098 UMLS:C4020693 Coeliac artery compression human_phenotype Celiac axis syndrome Coeliac axis syndrome Dunbar syndrome Median arcuate ligament syndrome HP:0012327 This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. Celiac artery compression HP:0012327 Compression of the celiac artery. https://orcid.org/0000-0002-0736-9199 Coeliac artery compression Coeliac axis syndrome An odontogenic tumor of the cementum of tooth. 2013-08-12T08:55:10Z SNOMEDCT_US:23255001 SNOMEDCT_US:37258009 UMLS:C0007659 human_phenotype HP:0012328 Cementoma HP:0012328 An odontogenic tumor of the cementum of tooth. https://orcid.org/0000-0002-0736-9199 A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. 2013-08-12T08:57:58Z SNOMEDCT_US:254786000 SNOMEDCT_US:705155008 UMLS:C0346073 Angioblastoma Angioblastoma of Nakagawa Hypertrophic hemangioma Progressive capillary hemangioma Tufted hemangioma human_phenotype HP:0012329 Tufted angioma HP:0012329 A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation. PMID:2644316 https://orcid.org/0000-0002-0736-9199 An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. 2013-09-13T07:37:08Z SNOMEDCT_US:45816000 UMLS:C0034186 human_phenotype HP:0012330 Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. Pyelonephritis HP:0012330 An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. https://orcid.org/0000-0002-0736-9199 A structural abnormality of the autonomic nervous system. 2013-09-13T07:52:31Z UMLS:C4022953 human_phenotype HP:0012331 Abnormal autonomic nervous system morphology HP:0012331 A structural abnormality of the autonomic nervous system. https://orcid.org/0000-0002-0736-9199 A functional abnormality of the autonomic nervous system. 2013-09-13T07:53:55Z HP:0002271 HP:0002387 HP:0002459 HP:0007310 UMLS:C4022952 Autonomic dysfunction Autonomic dysregulation Dysautonomia human_phenotype HP:0012332 Abnormal autonomic nervous system physiology HP:0012332 A functional abnormality of the autonomic nervous system. https://orcid.org/0000-0002-0736-9199 An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. 2013-09-13T08:04:38Z UMLS:C4021092 Sudomotor sympathetic dysfunction human_phenotype HP:0012333 Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. Abnormal sudomotor regulation HP:0012333 An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration. https://orcid.org/0000-0002-0736-9199 Impairment of bile flow due to obstruction in large bile ducts outside the liver. 2013-09-13T08:13:48Z SNOMEDCT_US:20719006 SNOMEDCT_US:8262006 UMLS:C0005398 human_phenotype HP:0012334 Extrahepatic cholestasis HP:0012334 Impairment of bile flow due to obstruction in large bile ducts outside the liver. https://orcid.org/0000-0002-0736-9199 HP:0040087 2013-09-13T08:38:06Z human_phenotype HP:0012335 obsolete Abnormality of folate metabolism true HP:0012335 HP:0012446 2013-09-13T08:39:17Z human_phenotype HP:0012336 obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration true HP:0012336 An anomaly in the processes involved in the maintenance of an internal equilibrium. 2013-09-13T09:23:23Z MP:0001764 UMLS:C4022950 human_phenotype HP:0012337 Abnormal homeostasis HP:0012337 An anomaly in the processes involved in the maintenance of an internal equilibrium. https://orcid.org/0000-0002-0736-9199 MP:0001764 Abnormal homeostasis Any anomaly in the utilization of energy (calories). 2013-09-13T09:24:54Z UMLS:C4022949 Abnormal energy expenditure human_phenotype HP:0012338 Abnormal energy expenditure HP:0012338 Any anomaly in the utilization of energy (calories). https://orcid.org/0000-0002-0736-9199 Abnormal energy expenditure An increase in the number of calories used per unit time. 2013-09-13T09:25:29Z UMLS:C4022948 human_phenotype HP:0012339 Increased resting energy expenditure HP:0012339 An increase in the number of calories used per unit time. https://orcid.org/0000-0002-0736-9199 A reduction in the number of calories used per unit time. 2013-09-13T09:27:05Z UMLS:C4022947 human_phenotype HP:0012340 Decreased resting energy expenditure HP:0012340 A reduction in the number of calories used per unit time. https://orcid.org/0000-0002-0736-9199 A pituitary prolactin cell adenoma of less than 10 mm diameter. 2013-09-13T09:49:32Z SNOMEDCT_US:253010003 UMLS:C0344452 human_phenotype HP:0012341 Microprolactinoma HP:0012341 A pituitary prolactin cell adenoma of less than 10 mm diameter. https://orcid.org/0000-0002-0736-9199 A pituitary prolactin cell adenoma of more than 10 mm diameter. 2013-09-13T09:50:29Z SNOMEDCT_US:253011004 UMLS:C0344453 human_phenotype HP:0012342 Macroprolactinoma HP:0012342 A pituitary prolactin cell adenoma of more than 10 mm diameter. https://orcid.org/0000-0002-0736-9199 Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. 2013-09-13T09:51:46Z UMLS:C0241012 Decreased plasma ferritin Decreased serum ferritin Low ferritin level Reduced serum ferritin human_phenotype HP:0012343 Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. Decreased circulating ferritin concentration HP:0012343 Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. https://orcid.org/0000-0002-0736-9199 Decreased serum ferritin Low ferritin level Reduced serum ferritin Isolated patches of hardened skin (scleroderma). 2013-09-13T09:55:47Z SNOMEDCT_US:201049004 UMLS:C1527383 human_phenotype HP:0012344 Morphea HP:0012344 Isolated patches of hardened skin (scleroderma). https://orcid.org/0000-0002-0736-9199 An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. 2013-09-15T09:06:16Z UMLS:C4022946 human_phenotype HP:0012345 Abnormal glycosylation HP:0012345 An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. https://orcid.org/0000-0002-0736-9199 An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. 2013-09-15T09:09:40Z UMLS:C4022945 human_phenotype HP:0012346 Abnormal protein glycosylation HP:0012346 An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. https://orcid.org/0000-0002-0736-9199 An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. 2013-09-15T09:29:59Z UMLS:C4022944 human_phenotype HP:0012347 Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signaling. Abnormal protein N-linked glycosylation HP:0012347 An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. PMID:22516080 https://orcid.org/0000-0002-0736-9199 A reduction in the amount of galactose residues of N-glycans. 2013-09-15T10:02:47Z UMLS:C4022943 human_phenotype HP:0012348 The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. Decreased galactosylation of N-linked protein glycosylation HP:0012348 A reduction in the amount of galactose residues of N-glycans. https://orcid.org/0000-0002-0736-9199 An anomaly of the addition of sialic acids to N-linked glycans. 2013-09-15T10:08:34Z UMLS:C4022942 human_phenotype HP:0012349 The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). Abnormal sialylation of N-linked protein glycosylation HP:0012349 An anomaly of the addition of sialic acids to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Decreased addition of sialic acids to N-linked glycans. 2013-09-15T10:14:42Z UMLS:C4022941 human_phenotype HP:0012350 Decreased sialylation of N-linked protein glycosylation HP:0012350 Decreased addition of sialic acids to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Increased addition of sialic acids to N-linked glycans. 2013-09-15T10:15:28Z UMLS:C4022940 human_phenotype HP:0012351 Increased sialylation of N-linked protein glycosylation HP:0012351 Increased addition of sialic acids to N-linked glycans. https://orcid.org/0000-0002-0736-9199 An anomaly of the addition of fucose sugar units to N-linked glycans. 2013-09-15T10:17:55Z UMLS:C4022939 human_phenotype HP:0012352 Abnormal fucosylation of protein N-linked glycosylation HP:0012352 An anomaly of the addition of fucose sugar units to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Decreased addition of fucose sugar units to N-linked glycans. 2013-09-15T10:20:00Z UMLS:C4022938 human_phenotype HP:0012353 Decreased fucosylation of N-linked protein glycosylation HP:0012353 Decreased addition of fucose sugar units to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Increased addition of fucose sugar units to N-linked glycans. 2013-09-15T10:21:15Z UMLS:C4022937 human_phenotype HP:0012354 Increased fucosylation of N-linked protein glycosylation HP:0012354 Increased addition of fucose sugar units to N-linked glycans. https://orcid.org/0000-0002-0736-9199 An anomaly of the addition of mannose to N-linked glycans. 2013-09-15T10:23:53Z UMLS:C4022936 human_phenotype HP:0012355 Abnormal mannosylation of N-linked protein glycosylation HP:0012355 An anomaly of the addition of mannose to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Reduced addition of mannose to N-linked glycans. 2013-09-15T10:24:56Z UMLS:C4022935 human_phenotype HP:0012356 Decreased mannosylation of N-linked protein glycosylation HP:0012356 Reduced addition of mannose to N-linked glycans. https://orcid.org/0000-0002-0736-9199 Increased addition of mannose to N-linked glycans. 2013-09-15T10:25:28Z UMLS:C4022934 human_phenotype HP:0012357 Increased mannosylation of N-linked protein glycosylation HP:0012357 Increased addition of mannose to N-linked glycans. https://orcid.org/0000-0002-0736-9199 An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. 2013-09-15T10:26:49Z UMLS:C4022933 human_phenotype HP:0012358 Abnormal protein O-linked glycosylation HP:0012358 An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. https://orcid.org/0000-0002-0736-9199 An anomaly of the addition of fucose sugar units to O-linked glycans. 2013-09-15T10:31:07Z UMLS:C4022932 human_phenotype HP:0012359 Abnormal fucosylation of O-linked protein glycosylation HP:0012359 An anomaly of the addition of fucose sugar units to O-linked glycans. https://orcid.org/0000-0002-0736-9199 A reduction of the addition of fucose sugar units to O-linked glycans. 2013-09-15T10:33:00Z UMLS:C4022931 human_phenotype HP:0012360 Decreased fucosylation of O-linked protein glycosylation HP:0012360 A reduction of the addition of fucose sugar units to O-linked glycans. https://orcid.org/0000-0002-0736-9199 Increased addition of fucose sugar units to O-linked glycans. 2013-09-15T10:34:38Z UMLS:C4022930 human_phenotype HP:0012361 Increased fucosylation of O-linked protein glycosylation HP:0012361 Increased addition of fucose sugar units to O-linked glycans. https://orcid.org/0000-0002-0736-9199 An anomaly of the addition of sialic acids to O-linked glycans. 2013-09-15T10:36:12Z UMLS:C4022929 human_phenotype HP:0012362 Abnormal sialylation of O-linked protein glycosylation HP:0012362 An anomaly of the addition of sialic acids to O-linked glycans. https://orcid.org/0000-0002-0736-9199 An reduced addition of sialic acids to O-linked glycans. 2013-09-15T10:36:43Z UMLS:C4022928 human_phenotype HP:0012363 Decreased sialylation of O-linked protein glycosylation HP:0012363 An reduced addition of sialic acids to O-linked glycans. https://orcid.org/0000-0002-0736-9199 A decreased concentration of potassium(1+) in the urine. 2013-10-03T10:21:51Z SNOMEDCT_US:54781007 UMLS:C0268024 Decreased urinary K Hypokaliuria Hypokaluria Low urine potassium levels human_phenotype HP:0012364 Decreased urinary potassium HP:0012364 A decreased concentration of potassium(1+) in the urine. https://orcid.org/0000-0002-0736-9199 Decreased urinary K Low urine potassium levels https://orcid.org/0000-0001-5208-3432 An abnormally decreased phosphate concentration in the urine. 2013-10-03T10:25:06Z SNOMEDCT_US:91632005 UMLS:C0268077 Low urine phosphate levels human_phenotype HP:0012365 Hypophosphaturia HP:0012365 An abnormally decreased phosphate concentration in the urine. https://orcid.org/0000-0002-0736-9199 Low urine phosphate levels https://orcid.org/0000-0001-5208-3432 Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). 2013-10-13T12:18:53Z UMLS:C3887851 human_phenotype HP:0012366 Basilar invagination HP:0012366 Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). PMID:10084535 https://orcid.org/0000-0002-0736-9199 Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. 2013-10-13T12:27:03Z UMLS:C4022927 human_phenotype HP:0012367 Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. Extra fontanelles HP:0012367 Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. https://orcid.org/0000-0002-0736-9199 Absence of concavity or convexity of the face when viewed in profile. 2013-10-13T01:49:13Z UMLS:C1853241 Flat face Flat facial profile Flat facial shape Flat facies human_phenotype HP:0012368 A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. Flat face HP:0012368 Absence of concavity or convexity of the face when viewed in profile. PMID:19125436 Flat face Flat facial profile https://orcid.org/0000-0002-5316-1399 Flat facial shape https://orcid.org/0000-0001-5889-4463 Flat facies https://orcid.org/0000-0001-5889-4463 HP:0010668 2013-10-13T02:37:51Z human_phenotype HP:0012369 obsolete Abnormal malar bone morphology true HP:0012369 Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. 2013-10-13T02:50:15Z Cheekbone excess Zygomatic bone excess SNOMEDCT_US:427888001 UMLS:C0375511 UMLS:C1997760 UMLS:C4082245 Cheekbone prominence Malar hypertrophy Prominence of cheekbone Pronounced cheekbone Hyperplasia of cheekbone Hyperplasia of zygomatic bone Zygomatic hypertrophy human_phenotype HP:0012370 Prominence of the zygomatic bone HP:0012370 Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. PMID:19125436 https://orcid.org/0000-0001-5889-4463 Cheekbone excess https://orcid.org/0000-0001-5889-4463 Zygomatic bone excess https://orcid.org/0000-0001-5889-4463 Malar hypertrophy https://orcid.org/0000-0001-5889-4463 Prominence of cheekbone https://orcid.org/0000-0001-5889-4463 Pronounced cheekbone https://orcid.org/0000-0001-5889-4463 Hyperplasia of cheekbone https://orcid.org/0000-0001-5889-4463 Hyperplasia of zygomatic bone https://orcid.org/0000-0001-5889-4463 Zygomatic hypertrophy https://orcid.org/0000-0001-5889-4463 Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face 2013-10-13T02:55:54Z HP:0010279 Big midface Large midface UMLS:C0240309 Midface hyperplasia Midfacial excess Midfacial prominence human_phenotype Hypertrophy of midface Overgrowth of the midface HP:0012371 This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. Hyperplasia of midface HP:0012371 Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face PMID:19125436 https://orcid.org/0000-0002-0736-9199 Big midface https://orcid.org/0000-0001-5889-4463 Large midface https://orcid.org/0000-0001-5889-4463 Midface hyperplasia https://orcid.org/0000-0002-5316-1399 Midfacial excess https://orcid.org/0000-0001-5889-4463 Midfacial prominence https://orcid.org/0000-0001-5889-4463 Hypertrophy of midface https://orcid.org/0000-0001-5889-4463 Overgrowth of the midface https://orcid.org/0000-0002-5316-1399 A structural anomaly of the globe of the eye, or bulbus oculi. 2013-10-13T03:44:43Z HP:0000489 HP:0012374 Fyler:4863 UMLS:C4022925 Abnormal eye structure Abnormality of the globe Abnormally shaped eye human_phenotype HP:0012372 previously: Abnormal globe morphology Abnormal eye morphology HP:0012372 A structural anomaly of the globe of the eye, or bulbus oculi. https://orcid.org/0000-0002-0736-9199 Abnormal eye structure Abnormally shaped eye https://orcid.org/0000-0001-5208-3432 A functional anomaly of the eye. 2013-10-13T03:45:37Z Abnormal vision physiology UMLS:C4022924 Abnormal eye physiology human_phenotype HP:0012373 Abnormal eye physiology HP:0012373 A functional anomaly of the eye. https://orcid.org/0000-0002-0736-9199 Abnormal eye physiology HP:0012372 human_phenotype HP:0012374 obsolete Abnormal globe morphology true HP:0012374 Edema (swelling) of the bulbar conjunctiva. 2013-10-13T05:45:45Z SNOMEDCT_US:8148005 UMLS:C0271298 human_phenotype HP:0012375 Chemosis HP:0012375 Edema (swelling) of the bulbar conjunctiva. https://orcid.org/0000-0002-0736-9199 Abnormal smallness of the lens. 2013-10-13T06:11:11Z SNOMEDCT_US:35272001 UMLS:C0266541 Small lens human_phenotype HP:0012376 Microphakia HP:0012376 Abnormal smallness of the lens. https://orcid.org/0000-0002-0736-9199 Small lens https://orcid.org/0000-0001-5208-3432 Partial or complete loss of vision in one half of the visual field of one or both eyes. 2013-10-13T07:55:21Z SNOMEDCT_US:77674003 UMLS:C0018979 Hemianopsia human_phenotype HP:0012377 Hemianopia HP:0012377 Partial or complete loss of vision in one half of the visual field of one or both eyes. https://orcid.org/0000-0002-0736-9199 A subjective feeling of tiredness characterized by a lack of energy and motivation. 2013-10-15T08:52:04Z SNOMEDCT_US:248274002 SNOMEDCT_US:84229001 UMLS:C0015672 Fatigue Tired Tiredness human_phenotype HP:0012378 Fatigue is distinct from muscle weakness. Fatigue HP:0012378 A subjective feeling of tiredness characterized by a lack of energy and motivation. https://orcid.org/0000-0002-0736-9199 Fatigue Tired Tiredness Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. 2013-10-15T08:58:55Z UMLS:C4022922 human_phenotype HP:0012379 Abnormal circulating enzyme concentration or activity HP:0012379 Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. MP:0005584 https://orcid.org/0000-0002-0736-9199 Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle. 2013-10-15T09:00:17Z UMLS:C4022921 human_phenotype HP:0012380 Reduced tissue carnitine O-palmitoyltransferase 2 activity HP:0012380 Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle. PMID:1528846 https://orcid.org/0000-0002-0736-9199 A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). 2013-10-16T11:46:54Z UMLS:C4022920 human_phenotype HP:0012381 Delayed self-feeding during toddler years HP:0012381 A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age). https://orcid.org/0000-0002-0736-9199 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. 2013-10-16T11:54:21Z SNOMEDCT_US:66130006 UMLS:C0428870 human_phenotype HP:0012382 Left-to-right shunt HP:0012382 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. https://orcid.org/0000-0001-9114-8737 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. 2013-10-16T11:54:45Z SNOMEDCT_US:13352000 UMLS:C0428872 human_phenotype HP:0012383 Bidirectional shunt HP:0012383 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. https://orcid.org/0000-0001-9114-8737 Inflammation of the nasal mucosa with nasal congestion. 2013-10-19T05:37:08Z SNOMEDCT_US:70076002 UMLS:C0035455 UMLS:C2718128 Nasal inflammation human_phenotype HP:0012384 Rhinitis HP:0012384 Inflammation of the nasal mucosa with nasal congestion. https://orcid.org/0000-0002-0736-9199 Nasal inflammation https://orcid.org/0000-0001-5889-4463 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. 2013-10-20T08:08:19Z SNOMEDCT_US:29271008 UMLS:C0685409 Permanent flexion of the finger or toe human_phenotype HP:0012385 Camptodactyly HP:0012385 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. https://orcid.org/0000-0002-0736-9199 Permanent flexion of the finger or toe https://orcid.org/0000-0002-6548-5200 Aplasia of the hallux, that is, a development defect such that the big toe does not develop. 2013-10-20T12:03:14Z UMLS:C1841686 Absent big toe Agenesis of the halluces Aplasia of the hallux Missing big toe human_phenotype HP:0012386 Absent hallux HP:0012386 Aplasia of the hallux, that is, a development defect such that the big toe does not develop. https://orcid.org/0000-0002-0736-9199 Absent big toe https://orcid.org/0000-0001-5208-3432 Missing big toe https://orcid.org/0000-0001-5208-3432 Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. 2013-11-07T07:24:16Z SNOMEDCT_US:32398004 UMLS:C0006277 human_phenotype HP:0012387 Bronchitis HP:0012387 Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. https://orcid.org/0000-0002-0736-9199 Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. 2013-11-07T07:27:42Z SNOMEDCT_US:10509002 SNOMEDCT_US:35301006 UMLS:C0149514 human_phenotype HP:0012388 Acute bronchitis HP:0012388 Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness. https://orcid.org/0000-0002-0736-9199 Muscular hypotonia of one or more limbs. 2013-11-07T07:31:51Z UMLS:C4022919 human_phenotype HP:0012389 Appendicular hypotonia HP:0012389 Muscular hypotonia of one or more limbs. https://orcid.org/0000-0002-0736-9199 A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. 2013-11-07T07:36:49Z SNOMEDCT_US:20928004 SNOMEDCT_US:30037006 UMLS:C0016167 human_phenotype Anal erosion HP:0012390 Anal fissure HP:0012390 A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. https://orcid.org/0000-0002-0736-9199 Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. 2013-11-07T07:42:49Z UMLS:C1836835 human_phenotype HP:0012391 Hyporeflexia of upper limbs HP:0012391 Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. https://orcid.org/0000-0002-0736-9199 Reduced intensity of muscle tendon reflexes in jaw. 2013-11-07T07:43:29Z UMLS:C4022918 Mandibular hyporeflexia human_phenotype HP:0012392 The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. Jaw hyporeflexia HP:0012392 Reduced intensity of muscle tendon reflexes in jaw. https://orcid.org/0000-0002-0736-9199 Mandibular hyporeflexia https://orcid.org/0000-0001-5889-4463 An allergy is an immune response or reaction to substances that are usually not harmful. 2013-11-07T07:47:22Z SNOMEDCT_US:419076005 UMLS:C1527304 Allergy human_phenotype HP:0012393 Allergy HP:0012393 An allergy is an immune response or reaction to substances that are usually not harmful. https://orcid.org/0000-0002-0736-9199 Allergy Allergy to iodine contrast media used in radiological studies. 2013-11-07T07:49:32Z UMLS:C4022917 human_phenotype HP:0012394 Iodine contrast allergy HP:0012394 Allergy to iodine contrast media used in radiological studies. https://orcid.org/0000-0002-0736-9199 An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. 2013-11-07T07:51:48Z SNOMEDCT_US:21719001 SNOMEDCT_US:300910009 SNOMEDCT_US:367498001 SNOMEDCT_US:444316004 UMLS:C0018621 Seasonal allergy human_phenotype HP:0012395 Seasonal allergy HP:0012395 An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction. https://orcid.org/0000-0002-0736-9199 Seasonal allergy A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. 2013-11-07T07:56:55Z SNOMEDCT_US:197432008 UMLS:C0005416 human_phenotype HP:0012396 Biliary dyskinesia HP:0012396 A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction. PMID:12095476 https://orcid.org/0000-0002-0736-9199 The presence of atheromas or atherosclerotic plaques in the aorta. 2013-11-07T08:04:30Z Aortic atherosclerosis Plaque build-up in aorta artery SNOMEDCT_US:81817003 UMLS:C0155733 Atherosclerosis of the aorta Atherosclerotic changes of aorta human_phenotype HP:0012397 Aortic atherosclerotic lesion HP:0012397 The presence of atheromas or atherosclerotic plaques in the aorta. PMID:16818829 https://orcid.org/0000-0002-0736-9199 Plaque build-up in aorta artery https://orcid.org/0000-0001-5208-3432 An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. 2013-11-08T08:09:45Z SNOMEDCT_US:271809000 SNOMEDCT_US:82014009 UMLS:C0085649 Peripheral oedema human_phenotype HP:0012398 Peripheral edema HP:0012398 An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. https://orcid.org/0000-0002-0736-9199 Peripheral oedema A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. 2013-11-08T08:49:52Z SNOMEDCT_US:399912005 SNOMEDCT_US:420226006 UMLS:C0011127 Bedsore Decubitus Ulcer Pressure Sore Pressure ulcer human_phenotype HP:0012399 Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. Pressure ulcer HP:0012399 A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips. https://orcid.org/0000-0002-0736-9199 Bedsore Pressure Sore Pressure ulcer An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. 2013-11-09T03:35:35Z UMLS:C4022916 Abnormal aldolase level human_phenotype HP:0012400 The reaction catalyzed by aldolase is a component of the glycolysis pathway. Abnormal circulating aldolase concentration HP:0012400 An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. https://orcid.org/0000-0002-0736-9199 A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. 2013-11-09T03:45:40Z UMLS:C4020902 Abnormal urinary 2-oxoglutarate level Abnormality of urine alpha ketoglutarate concentration human_phenotype HP:0012401 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. Abnormal urine alpha-ketoglutarate concentration HP:0012401 A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. https://orcid.org/0000-0002-0736-9199 A greater than normal concentration of 2-oxoglutaric acid in the urine. 2013-11-09T03:48:37Z UMLS:C4022915 Elevated urinary 2-oxoglutarate Increased urine alpha-ketoglutarate concentration human_phenotype HP:0012402 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. Increased urine alpha-ketoglutarate concentration HP:0012402 A greater than normal concentration of 2-oxoglutaric acid in the urine. https://orcid.org/0000-0002-0736-9199 Increased urine alpha-ketoglutarate concentration A lower than normal concentration of 2-oxoglutaric acid in the urine. 2013-11-09T03:49:45Z UMLS:C4022914 Decreased urinary 2-oxoglutarate human_phenotype HP:0012403 Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. Decreased urine alpha-ketoglutarate concentration HP:0012403 A lower than normal concentration of 2-oxoglutaric acid in the urine. https://orcid.org/0000-0002-0736-9199 A deviation from normal of the concentration of citrate(3-) in the urine. 2013-11-09T03:51:30Z UMLS:C4022913 Abnormal urine citrate concentration Abnormal urine citric acid concentration human_phenotype HP:0012404 Abnormal urine citrate concentration HP:0012404 A deviation from normal of the concentration of citrate(3-) in the urine. https://orcid.org/0000-0002-0736-9199 Abnormal urine citrate concentration A lower than normal concentration of citrate(3-) in the urine. 2013-11-09T03:54:41Z UMLS:C2673444 Decreased urine citrate concentration human_phenotype HP:0012405 Hypocitraturia HP:0012405 A lower than normal concentration of citrate(3-) in the urine. https://orcid.org/0000-0002-0736-9199 A greater than normal concentration of citrate(3-) in the urine. 2013-11-09T03:56:26Z UMLS:C4021090 Increased urine citrate concentration human_phenotype HP:0012406 Hypercitraturia HP:0012406 A greater than normal concentration of citrate(3-) in the urine. https://orcid.org/0000-0002-0736-9199 A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. 2013-11-09T04:15:36Z SNOMEDCT_US:22090007 UMLS:C0231698 Scissor gait Scissor walk Scissoring gait Scissoring of the lower extremities Scissoring of the lower limbs Scissors gait human_phenotype HP:0012407 Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. Scissor gait HP:0012407 A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. https://orcid.org/0000-0002-0736-9199 Scissor gait Scissor walk https://orcid.org/0000-0001-5208-3432 Scissors gait https://orcid.org/0000-0002-5316-1399 The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). 2013-11-10T10:45:27Z SNOMEDCT_US:236447005 UMLS:C0403477 human_phenotype HP:0012408 Medullary nephrocalcinosis HP:0012408 The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). https://orcid.org/0000-0001-5208-3432 The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). 2013-11-10T11:03:33Z SNOMEDCT_US:236446001 UMLS:C0403476 human_phenotype HP:0012409 Cortical nephrocalcinosis HP:0012409 The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). https://orcid.org/0000-0002-0736-9199 A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. 2013-11-10T11:36:59Z SNOMEDCT_US:50715003 UMLS:C0034902 Red cell aplasia human_phenotype HP:0012410 Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. Pure red cell aplasia HP:0012410 A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. https://orcid.org/0000-0002-0736-9199 The onset of growth of pubic hair at an earlier age than normal. 2013-11-10T11:50:16Z SNOMEDCT_US:237815000 UMLS:C0342541 Premature pubic hair growth human_phenotype HP:0012411 Premature pubarche HP:0012411 The onset of growth of pubic hair at an earlier age than normal. https://orcid.org/0000-0002-0736-9199 Premature pubic hair growth https://orcid.org/0000-0001-5208-3432 Onset of adrenarche at an earlier age than usual. 2013-11-10T11:58:02Z SNOMEDCT_US:103021001 UMLS:C0342546 human_phenotype HP:0012412 Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). Premature adrenarche HP:0012412 Onset of adrenarche at an earlier age than usual. https://orcid.org/0000-0002-0736-9199 Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). PMID:10414639 The presence of a V-shaped indentation (notch) in the primary central incisor. 2013-11-10T12:07:34Z SNOMEDCT_US:410500004 SNOMEDCT_US:86443005 UMLS:C0020186 UMLS:C1444627 UMLS:C4022912 Notched front baby tooth Notched front deciduous tooth Notched front primary tooth Syphilitic primary incisor human_phenotype HP:0012413 Notched primary central incisor HP:0012413 The presence of a V-shaped indentation (notch) in the primary central incisor. https://orcid.org/0000-0002-0736-9199 Notched front baby tooth https://orcid.org/0000-0001-5889-4463 Notched front deciduous tooth https://orcid.org/0000-0001-5889-4463 Notched front primary tooth https://orcid.org/0000-0001-5889-4463 Syphilitic primary incisor https://orcid.org/0000-0001-5889-4463 Wasting or decrease in size of all or part of the duodenum. 2013-11-10T12:20:19Z UMLS:C4022911 human_phenotype HP:0012414 Duodenal atrophy HP:0012414 Wasting or decrease in size of all or part of the duodenum. https://orcid.org/0000-0002-0736-9199 An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. 2013-11-10T04:59:20Z SNOMEDCT_US:312391003 UMLS:C0476337 Abnormal blood gas level human_phenotype HP:0012415 Abnormal blood gas level HP:0012415 An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. https://orcid.org/0000-0002-0736-9199 Abnormal blood gas level Abnormally elevated blood carbon dioxide (CO2) level. 2013-11-10T05:04:49Z SNOMEDCT_US:29596007 UMLS:C0020440 High blood carbon dioxide level Hypercarbia human_phenotype HP:0012416 Hypercapnia HP:0012416 Abnormally elevated blood carbon dioxide (CO2) level. https://orcid.org/0000-0002-0736-9199 High blood carbon dioxide level https://orcid.org/0000-0001-5208-3432 Abnormally reduced blood carbon dioxide (CO2) level. 2013-11-10T05:06:10Z SNOMEDCT_US:61031008 UMLS:C0085383 Hypocarbia Reduced carbon dioxide in the blood human_phenotype HP:0012417 Hypocapnia HP:0012417 Abnormally reduced blood carbon dioxide (CO2) level. https://orcid.org/0000-0002-0736-9199 Hypocarbia https://en.wikipedia.org/wiki/hypocapnia https://orcid.org/0000-0001-5208-3432 Reduced carbon dioxide in the blood https://en.wikipedia.org/wiki/hypocapnia https://orcid.org/0000-0001-5208-3432 An abnormally low level of blood oxygen. 2013-11-10T05:07:07Z SNOMEDCT_US:389087006 UMLS:C0700292 Low blood oxygen level human_phenotype Hypoxia HP:0012418 Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. Hypoxemia HP:0012418 An abnormally low level of blood oxygen. https://orcid.org/0000-0002-0736-9199 Low blood oxygen level https://orcid.org/0000-0001-5208-3432 Hypoxia https://orcid.org/0000-0001-5208-3432 An abnormally high level of blood oxygen. 2013-11-10T05:09:04Z UMLS:C4022910 human_phenotype HP:0012419 Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. Hyperoxemia HP:0012419 An abnormally high level of blood oxygen. https://orcid.org/0000-0002-0736-9199 Amniotic fluid containing the earliest stools of a mammalian infant. 2013-11-10T06:01:40Z SNOMEDCT_US:168092006 SNOMEDCT_US:249135009 UMLS:C0426209 Meconium staining of amniotic fluid Meconium-stained amniotic fluid human_phenotype HP:0012420 Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. Meconium stained amniotic fluid HP:0012420 Amniotic fluid containing the earliest stools of a mammalian infant. https://orcid.org/0000-0002-0736-9199 Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. 2013-11-10T06:17:21Z SNOMEDCT_US:300519001 UMLS:C0577242 Absent foreskin Aposthia human_phenotype HP:0012421 Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. Congenital absence of foreskin HP:0012421 Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis. https://orcid.org/0000-0002-0736-9199 Overgrowth of the choroid plexus. 2013-11-11T07:50:37Z UMLS:C4020728 UMLS:C4021089 Choroid plexus hypertrophy human_phenotype Diffuse villous hypertrophy of choroid plexus HP:0012422 The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. Villous hypertrophy of choroid plexus HP:0012422 Overgrowth of the choroid plexus. PMID:16523225 https://orcid.org/0000-0002-0736-9199 The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. 2013-11-11T08:04:46Z UMLS:C1257861 human_phenotype HP:0012423 Colonic inertia HP:0012423 The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days. PMID:23449085 https://orcid.org/0000-0002-0736-9199 An inflammation of the choroid and retina. 2013-11-11T08:10:29Z SNOMEDCT_US:46627006 UMLS:C0008513 human_phenotype HP:0012424 Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. Chorioretinitis HP:0012424 An inflammation of the choroid and retina. PMID:16196117 https://orcid.org/0000-0001-5208-3432 An ulcer of the colon due to pressure and irritation from retained fecal masses. 2013-11-12T10:28:18Z Colon ulcer SNOMEDCT_US:235766003 SNOMEDCT_US:38084005 SNOMEDCT_US:46040000 UMLS:C0267491 UMLS:C0333302 human_phenotype Recto-sigmoid colon stercoral ulcer HP:0012425 Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. Stercoral ulcer HP:0012425 An ulcer of the colon due to pressure and irritation from retained fecal masses. PMID:7065551 https://orcid.org/0000-0001-5208-3432 Colon ulcer https://orcid.org/0000-0001-6908-9849 Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. 2013-11-12T10:36:06Z SNOMEDCT_US:33629003 UMLS:C0029128 Optic nerve head drusen human_phenotype HP:0012426 Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema). Optic disc drusen HP:0012426 Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. PMID:22787500 PMID:23658477 PMID:30524490 https://orcid.org/0000-0002-0736-9199 An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. 2013-11-12T10:51:07Z HP:0031068 UMLS:C4022909 Excessive femoral anteversion Increased femoral neck anteversion Internally rotated hips human_phenotype HP:0012427 Femoral neck anteversion (FNA), also called femoral torsion or femoral version, is the angle between the projection of two lines in the axial plane perpendicular to the femoral shaft; one line going through the proximal femoral neck region and the second one through the distal condylar region, indicating the degree of twist of the femur. Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. See Figure 1 of PMID:32579722. Increased femoral anteversion HP:0012427 An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. PMID:32579722 https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-0736-9199 Internally rotated hips Protruding heel bone, or calcaneus. 2013-11-12T11:04:49Z UMLS:C4021088 Prominent heel bone human_phenotype HP:0012428 Prominent calcaneus HP:0012428 Protruding heel bone, or calcaneus. https://orcid.org/0000-0001-5208-3432 Prominent heel bone Absence or underdevelopment of the cerebral white matter. 2013-11-13T07:39:37Z UMLS:C4021844 Absent/small cerebral white matter Absent/underdeveloped cerebral white matter human_phenotype HP:0012429 Aplasia/Hypoplasia of the cerebral white matter HP:0012429 Absence or underdevelopment of the cerebral white matter. https://orcid.org/0000-0002-0736-9199 Absent/small cerebral white matter https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped cerebral white matter https://orcid.org/0000-0001-5208-3432 Underdevelopment of the cerebral white matter. 2013-11-13T07:42:02Z UMLS:C4020727 UMLS:C4022908 human_phenotype Paucity of cerebral white matter HP:0012430 Cerebral white matter hypoplasia HP:0012430 Underdevelopment of the cerebral white matter. https://orcid.org/0000-0002-0736-9199 Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. 2013-11-13T07:45:40Z UMLS:C4022907 human_phenotype HP:0012431 Episodic fatigue HP:0012431 Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. https://orcid.org/0000-0002-0736-9199 Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. 2013-11-13T07:49:08Z UMLS:C0518656 Chronic extreme exhaustion Chronic fatigue human_phenotype HP:0012432 Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. Chronic fatigue HP:0012432 Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. https://orcid.org/0000-0001-5208-3432 Chronic extreme exhaustion Chronic fatigue https://orcid.org/0000-0002-6548-5200 An abnormality of actions or reactions of a person exhibited during social interactions with other individuals. 2013-11-23T08:37:01Z UMLS:C4020726 UMLS:C4021087 Abnormal social behavior Abnormal social interactions human_phenotype HP:0012433 Abnormal social behavior HP:0012433 An abnormality of actions or reactions of a person exhibited during social interactions with other individuals. PMID:36625807 Abnormal social behavior https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Abnormal social interactions https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 A failure to meet one or more age-related milestones of social behavior. 2013-11-23T08:40:29Z UMLS:C4022906 Delayed milestone development Delayed social development human_phenotype HP:0012434 This term may be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of three months, a child smiles in response to social interaction;. aAt the age of seven months, a child responds to the facial expressions of others;. aAnd at the age of 12 months, a child is shy around strangers. Delayed early-childhood social milestone development HP:0012434 A failure to meet one or more age-related milestones of social behavior. PMID:30521240 Delayed social development Reduction in length of the ventral (lower) skin of prepuce of penis. 2013-11-23T08:45:20Z UMLS:C4022905 human_phenotype HP:0012435 Ventral shortening of foreskin HP:0012435 Reduction in length of the ventral (lower) skin of prepuce of penis. https://orcid.org/0000-0001-5208-3432 Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. 2013-11-23T08:50:05Z UMLS:C4020724 UMLS:C4020725 Non-occlusive coronary artery disease human_phenotype Non-occlusive coronary artery stenosis Nonocclusive coronary artery disease Nonocclusive coronary artery stenosis HP:0012436 Nonocclusive coronary artery atherosclerosis HP:0012436 Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries. https://orcid.org/0000-0001-5208-3432 A structural anomaly of the gallbladder. 2013-11-23T01:13:40Z UMLS:C4022904 Abnormal gallbladder structure Abnormal shape of gallbladder human_phenotype HP:0012437 Abnormal gallbladder morphology HP:0012437 A structural anomaly of the gallbladder. https://orcid.org/0000-0002-0736-9199 Abnormal gallbladder structure Abnormal shape of gallbladder https://orcid.org/0000-0001-5208-3432 A functional anomaly of the gallbladder. 2013-11-23T01:17:00Z UMLS:C4022903 human_phenotype HP:0012438 Abnormal gallbladder physiology HP:0012438 A functional anomaly of the gallbladder. https://orcid.org/0000-0002-0736-9199 A functional abnormality of the biliary tree. 2013-11-23T02:14:51Z UMLS:C4022902 human_phenotype HP:0012439 Abnormal biliary tract physiology HP:0012439 A functional abnormality of the biliary tree. https://orcid.org/0000-0002-0736-9199 A structural abnormality of the biliary tree. 2013-11-23T02:15:33Z UMLS:C4021086 Anomaly of the biliary tract human_phenotype HP:0012440 Abnormal biliary tract morphology HP:0012440 A structural abnormality of the biliary tree. https://orcid.org/0000-0002-0736-9199 Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. 2013-11-23T02:21:59Z SNOMEDCT_US:430887001 UMLS:C0878588 UMLS:C4048750 human_phenotype Sphincter of Oddi dysfunction HP:0012441 The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. Sphincter of Oddi dyskinesia HP:0012441 Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum. https://orcid.org/0000-0002-0736-9199 Reduced motility of the gallbladder with reduced emptying fraction. 2013-11-23T02:28:07Z UMLS:C1449631 human_phenotype HP:0012442 Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. Gallbladder dyskinesia HP:0012442 Reduced motility of the gallbladder with reduced emptying fraction. PMID:12095476 PMID:17761125 https://orcid.org/0000-0002-0736-9199 A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. 2013-11-23T02:38:00Z UMLS:C4021085 Abnormal shape of brain Abnormality of brain morphology Abnormality of the brain human_phenotype HP:0012443 Abnormal brain morphology HP:0012443 A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. https://orcid.org/0000-0002-0736-9199 Abnormal shape of brain https://orcid.org/0000-0001-5208-3432 Abnormality of the brain Partial or complete wasting (loss) of brain tissue that was once present. 2013-11-23T02:46:15Z SNOMEDCT_US:278849000 SNOMEDCT_US:418143002 SNOMEDCT_US:52522001 UMLS:C0154671 UMLS:C0235946 Brain degeneration Brain wasting human_phenotype HP:0012444 Brain atrophy HP:0012444 Partial or complete wasting (loss) of brain tissue that was once present. https://orcid.org/0000-0002-0736-9199 Brain degeneration https://orcid.org/0000-0001-5208-3432 Brain wasting https://orcid.org/0000-0001-5208-3432 true HP:0012445 A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. 2013-11-23T03:40:41Z HP:0012336 SNOMEDCT_US:711403001 UMLS:C2751584 UMLS:C4022901 Low CSF 5-methyltetrahydrofolate Reduced CSF 5-methyltetrahydrofolate concentration human_phenotype Cerebral folate deficiency HP:0012446 Decreased CSF 5-methyltetrahydrofolate concentration HP:0012446 A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. https://orcid.org/0000-0002-0736-9199 Reduced CSF 5-methyltetrahydrofolate concentration Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. 2013-11-23T03:45:58Z UMLS:C1857704 human_phenotype HP:0012447 Abnormal myelination HP:0012447 Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. MP:0000920 https://orcid.org/0000-0002-0736-9199 Delayed myelination. 2013-11-23T03:47:56Z SNOMEDCT_US:135810007 UMLS:C1277241 human_phenotype HP:0012448 Delayed myelination HP:0012448 Delayed myelination. https://orcid.org/0000-0001-5208-3432 Inflammation of the synovial membrane of the sacroiliac joint. 2013-11-23T03:54:32Z UMLS:C4022900 human_phenotype HP:0012449 Sacroiliac joint synovitis HP:0012449 Inflammation of the synovial membrane of the sacroiliac joint. https://orcid.org/0000-0001-5208-3432 Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. 2013-11-23T04:03:43Z SNOMEDCT_US:236069009 UMLS:C0401149 Chronic constipation Infrequent bowel movements human_phenotype HP:0012450 Chronic constipation HP:0012450 Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. https://orcid.org/0000-0001-5208-3432 Chronic constipation Infrequent bowel movements https://orcid.org/0000-0001-6908-9849 Constipation of sudden onset and lasting for less than three months. 2013-11-23T04:06:37Z SNOMEDCT_US:197119006 UMLS:C0401148 human_phenotype HP:0012451 Acute constipation HP:0012451 Constipation of sudden onset and lasting for less than three months. https://orcid.org/0000-0001-5208-3432 An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep. 2013-11-23T07:42:59Z SNOMEDCT_US:32914008 UMLS:C0035258 Restless legs syndrome Tachyathetosis human_phenotype Ekbom syndrome Willis-Ekbom disease Wittmaack-Ekbom syndrome HP:0012452 Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected individuals. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. Restless legs HP:0012452 An irresistible urge to move the legs, usually accompanied by unpleasant sensations deep within the limbs. Symptoms typically begin or worsen during periods of rest or inactivity, are most pronounced in the evening or at night, and are temporarily relieved by movement such as walking or stretching. The disturbance often interferes with the initiation or maintenance of sleep. PMID:28613628 PMID:34732752 PMID:35808955 Willis-Ekbom disease A chronic loss of wrist joint motion on the right and left sides. 2013-11-23T07:58:50Z UMLS:C4020723 UMLS:C4022899 human_phenotype Bilateral wrist contracture HP:0012453 Bilateral wrist flexion contracture HP:0012453 A chronic loss of wrist joint motion on the right and left sides. https://orcid.org/0000-0002-0736-9199 A chronic loss of wrist joint motion on one side only. 2013-11-23T07:59:39Z UMLS:C4020722 UMLS:C4022898 human_phenotype Unilateral wrist contracture HP:0012454 Unilateral wrist flexion contracture HP:0012454 A chronic loss of wrist joint motion on one side only. https://orcid.org/0000-0002-0736-9199 HP:0003207 human_phenotype HP:0012455 obsolete Large artery calcification true HP:0012455 Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. 2013-11-24T10:50:45Z UMLS:C4022896 human_phenotype HP:0012456 Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. Medial arterial calcification HP:0012456 Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries. https://orcid.org/0000-0002-0736-9199 Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. 2013-11-24T11:11:13Z UMLS:C4022895 human_phenotype HP:0012457 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 Medial calcification of medium-sized arteries HP:0012457 Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. https://orcid.org/0000-0002-0736-9199 Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. 2013-11-24T11:13:13Z UMLS:C4022894 human_phenotype HP:0012458 The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. A discussion on the logical definition can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. Medial calcification of small arteries HP:0012458 Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries. https://orcid.org/0000-0002-0736-9199 A headache disorder that occurs exclusively at night, waking the affected individual from sleep. 2013-11-24T11:20:18Z SNOMEDCT_US:122711000119109 UMLS:C0752150 Alarm clock headache human_phenotype HP:0012459 Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. Hypnic headache HP:0012459 A headache disorder that occurs exclusively at night, waking the affected individual from sleep. PMID:20585827 PMID:23832130 https://orcid.org/0000-0002-0736-9199 Alarm clock headache A structural anomaly of the inferior portion of the vermis of cerebellum. 2013-11-24T11:59:06Z UMLS:C4022893 human_phenotype HP:0012460 Dysmorphic inferior cerebellar vermis HP:0012460 A structural anomaly of the inferior portion of the vermis of cerebellum. https://orcid.org/0000-0001-5208-3432 The presence of bacteria in the urine. 2013-11-24T12:15:47Z SNOMEDCT_US:61373006 UMLS:C0004659 Bacteria in urine High urine bacteria human_phenotype HP:0012461 The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. Bacteriuria HP:0012461 The presence of bacteria in the urine. https://orcid.org/0000-0001-5208-3432 Bacteria in urine https://orcid.org/0000-0001-5208-3432 High urine bacteria Involuntary and irregular twitches of the chin. 2013-11-24T12:26:38Z UMLS:C1860972 Geniospasm human_phenotype Chin spasms HP:0012462 Chin myoclonus HP:0012462 Involuntary and irregular twitches of the chin. PMID:16816905 https://orcid.org/0000-0002-0736-9199 An above normal level of saturation of serum transferrin with iron. 2013-11-24T12:46:56Z UMLS:C4022892 human_phenotype HP:0012463 Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. Elevated transferrin saturation HP:0012463 An above normal level of saturation of serum transferrin with iron. https://orcid.org/0000-0002-0736-9199 A below normal level of saturation of serum transferrin with iron. 2013-11-24T12:51:51Z UMLS:C0919785 human_phenotype HP:0012464 Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. Decreased transferrin saturation HP:0012464 A below normal level of saturation of serum transferrin with iron. https://orcid.org/0000-0002-0736-9199 An increased level of iron in liver tissues. 2013-11-24T12:54:57Z UMLS:C4022891 Increased iron concentration in liver Increased liver iron level human_phenotype HP:0012465 This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. Elevated hepatic iron concentration HP:0012465 An increased level of iron in liver tissues. PMID:10922422 PMID:14668426 https://orcid.org/0000-0002-0736-9199 Increased iron concentration in liver https://orcid.org/0000-0001-5208-3432 Increased liver iron level https://orcid.org/0000-0002-5316-1399 Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). 2013-11-24T01:11:15Z SNOMEDCT_US:8764008 UMLS:C0268048 human_phenotype HP:0012466 Chronic respiratory acidosis HP:0012466 Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L). https://orcid.org/0000-0002-0736-9199 Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). 2013-11-24T01:11:51Z SNOMEDCT_US:70644008 UMLS:C0268047 human_phenotype HP:0012467 Acute respiratory acidosis HP:0012467 Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35). https://orcid.org/0000-0002-0736-9199 Longstanding abnormal acid accumulation or depletion of base. 2013-11-24T01:16:31Z UMLS:C1735903 human_phenotype HP:0012468 Chronic acidosis HP:0012468 Longstanding abnormal acid accumulation or depletion of base. https://orcid.org/0000-0001-5208-3432 Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). 2013-11-26T05:36:45Z UMLS:C3887898 human_phenotype HP:0012469 Infantile spasms HP:0012469 Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). https://orcid.org/0000-0001-8486-0558 An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. 2013-11-26T05:40:01Z SNOMEDCT_US:63342001 UMLS:C0423128 UMLS:C4020721 Setting-sun eye phenomenon Sun setting eyes Sunsetting eye human_phenotype Eyes fixed downward HP:0012470 Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. Setting-sun eye phenomenon HP:0012470 An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. PMID:17030938 https://orcid.org/0000-0002-0736-9199 Setting-sun eye phenomenon Sun setting eyes Sunsetting eye Eyes fixed downward Increased width of the skin of vermilion border region of upper lip. 2013-11-26T09:07:51Z UMLS:C1836543 Full lips Increased volume of lip Increased volume of lip vermillion Plump lips Prominent lips Thick lips human_phenotype HP:0012471 Thick vermilion border HP:0012471 Increased width of the skin of vermilion border region of upper lip. https://orcid.org/0000-0002-0736-9199 Full lips Increased volume of lip https://orcid.org/0000-0001-5889-4463 Increased volume of lip vermillion https://orcid.org/0000-0001-5889-4463 Plump lips https://orcid.org/0000-0001-5889-4463 Prominent lips https://orcid.org/0000-0002-5316-1399 Thick lips A turning outward of the lip or lips, that is, eversion of the lips. 2013-11-26T10:20:23Z UMLS:C3550430 Eclabium Everted lips Outward turned lips human_phenotype HP:0012472 Eclabion HP:0012472 A turning outward of the lip or lips, that is, eversion of the lips. https://orcid.org/0000-0002-0736-9199 Everted lips https://orcid.org/0000-0001-5889-4463 Outward turned lips https://orcid.org/0000-0001-5889-4463 Wasting of the tongue. 2013-11-26T10:32:31Z SNOMEDCT_US:249382006 SNOMEDCT_US:50805004 UMLS:C0241423 UMLS:C0426494 Atrophy of the tongue Lingual atrophy Lingual wasting Wasting of the tongue human_phenotype HP:0012473 Tongue atrophy HP:0012473 Wasting of the tongue. https://orcid.org/0000-0001-5208-3432 Lingual atrophy https://orcid.org/0000-0001-5889-4463 Lingual wasting https://orcid.org/0000-0001-5889-4463 Wasting of the tongue https://orcid.org/0000-0001-5889-4463 Complete obstruction of a carotid artery. 2013-11-27T10:11:40Z SNOMEDCT_US:266254007 SNOMEDCT_US:69798007 UMLS:C0265101 Obstructed carotid artery human_phenotype HP:0012474 Carotid artery occlusion is usually caused by caused by atherosclerosis. Carotid artery occlusion HP:0012474 Complete obstruction of a carotid artery. https://orcid.org/0000-0001-5208-3432 Obstructed carotid artery https://orcid.org/0000-0001-5208-3432 Reduced ability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells. 2013-11-27T10:21:15Z SNOMEDCT_US:234556002 UMLS:C0398711 Abnormal specific antibody response Decreased circulating level of specific antibodies Decreased specific antibody in blood Specific antibody deficiency human_phenotype HP:0012475 Decreased circulating concentration of specific antibodies Impaired specific antibody response HP:0012475 Reduced ability of the immune system to produce targeted, protective antibodies (immunoglobulins) against specific pathogens or vaccines in the setting of normal or near-normal serum levels of total IgG, IgA, and IgM and normal absolute counts of B cells and T cells. PMID:17100769 https://orcid.org/0000-0002-0736-9199 The concentration in the blood circulation of specific immunoglobulins directed against pneumococci is below the lower limit of normal. 2013-11-27T10:28:04Z UMLS:C4022890 Decreased specific pneumococcal antibody level Low pneumococcal antibody titer Specific pneumococcal antibody deficiency human_phenotype HP:0012476 In general, this term is meant to be used for reduced specific antipneumococcal antibody concentration in the setting of normal overall immunoglobulin concentration. Decreased circulating specific pneumococcal antibody concentration HP:0012476 The concentration in the blood circulation of specific immunoglobulins directed against pneumococci is below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. 2013-11-28T07:11:37Z UMLS:C4022889 Shakey voice Vocal tremor human_phenotype HP:0012477 Vocal tremor HP:0012477 A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. PMID:22505778 https://orcid.org/0000-0002-0736-9199 Shakey voice https://orcid.org/0000-0001-5208-3432 Vocal tremor Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. 2013-11-28T07:24:24Z HP:0040263 SNOMEDCT_US:298231004 SNOMEDCT_US:50603008 SNOMEDCT_US:91866004 UMLS:C0575010 UMLS:C0685924 UMLS:C2931375 Ankylosis of temporomandibular joint Freezing of jaw joint Freezing of the temporomandibular joint Jaw ankylosis Rigidity of the temporomandibular joint Temporomandibular joint fusion Adhesion of the temporomandibular joint human_phenotype HP:0012478 Temporomandibular joint ankylosis HP:0012478 Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. https://orcid.org/0000-0001-5208-3432 Ankylosis of temporomandibular joint https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Freezing of jaw joint Freezing of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Rigidity of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Adhesion of the temporomandibular joint https://orcid.org/0000-0001-5889-4463 Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. 2013-11-28T07:28:13Z Jaw joint noise Jaw joint sounds Temporomandibular joint noise Temporomandibular joint sounds SNOMEDCT_US:298377005 UMLS:C0575154 UMLS:C4280313 UMLS:C4280314 UMLS:C4280315 Jaw joint crepitus Jaw joint clicking sound Jaw joint grating sound Jaw joint popping sound Temporomandibular joint clicking sound Temporomandibular joint grating sound Temporomandibular joint popping sound human_phenotype HP:0012479 Temporomandibular joint crepitus HP:0012479 Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. https://orcid.org/0000-0002-0736-9199 Jaw joint noise https://orcid.org/0000-0001-5889-4463 Jaw joint sounds https://orcid.org/0000-0001-5889-4463 Temporomandibular joint noise https://orcid.org/0000-0001-5889-4463 Temporomandibular joint sounds https://orcid.org/0000-0001-5889-4463 Jaw joint crepitus https://orcid.org/0000-0001-5889-4463 Jaw joint clicking sound https://orcid.org/0000-0001-5889-4463 Jaw joint grating sound https://orcid.org/0000-0001-5889-4463 Jaw joint popping sound https://orcid.org/0000-0001-5889-4463 Temporomandibular joint clicking sound https://orcid.org/0000-0001-5889-4463 Temporomandibular joint grating sound https://orcid.org/0000-0001-5889-4463 Temporomandibular joint popping sound https://orcid.org/0000-0001-5889-4463 An anomaly of cerebral veins. 2013-11-28T08:01:32Z UMLS:C4022888 Abnormality of cerebral veins human_phenotype HP:0012480 Abnormal cerebral vein morphology HP:0012480 An anomaly of cerebral veins. https://orcid.org/0000-0002-0736-9199 A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. 2013-11-28T08:03:08Z UMLS:C1956261 Developmental Venous Anomaly human_phenotype HP:0012481 DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. Cerebral venous angioma HP:0012481 A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. PMID:8770251 https://orcid.org/0000-0002-0736-9199 A venous angioma of the frontal lobe of the brain. 2013-11-28T08:12:07Z UMLS:C4022887 human_phenotype HP:0012482 Frontal venous angioma HP:0012482 A venous angioma of the frontal lobe of the brain. https://orcid.org/0000-0002-0736-9199 Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. 2013-11-29T07:44:49Z UMLS:C4022886 human_phenotype HP:0012483 This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. Abnormal alpha granules HP:0012483 Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury. PMID:8467233 https://orcid.org/0000-0002-7744-1790 Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. 2013-11-29T07:48:08Z UMLS:C4022885 human_phenotype HP:0012484 This feature can be observed by electron microscopy. Abnormal dense granules HP:0012484 Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. https://orcid.org/0000-0002-7744-1790 An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. 2013-11-29T07:55:15Z UMLS:C4021840 human_phenotype HP:0012485 Abnormal surface-connected open canalicular system HP:0012485 An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction. PMID:1760557 https://orcid.org/0000-0002-0736-9199 Inflammation of the spinal cord. 2013-11-29T08:10:12Z SNOMEDCT_US:41370002 UMLS:C0026975 Inflammation of spinal cord human_phenotype HP:0012486 Myelitis HP:0012486 Inflammation of the spinal cord. https://orcid.org/0000-0002-0736-9199 Inflammation of spinal cord https://orcid.org/0000-0001-5208-3432 An arachnoid cyst located at the margin of the cerebellum and pons. 2013-11-29T09:03:39Z UMLS:C4022884 human_phenotype HP:0012487 The cerebellopontine angle is in the posterior fossa. Cerebellopontine angle arachnoid cyst HP:0012487 An arachnoid cyst located at the margin of the cerebellum and pons. https://orcid.org/0000-0001-5208-3432 An arachnoid cyst located within the ventricular system. 2013-11-29T09:08:46Z UMLS:C4022883 human_phenotype HP:0012488 Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. Intraventricular arachnoid cyst HP:0012488 An arachnoid cyst located within the ventricular system. PMID:8951893 https://orcid.org/0000-0002-0736-9199 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. 2013-11-29T09:11:20Z UMLS:C4022882 human_phenotype HP:0012489 As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. Suprasellar arachnoid cyst HP:0012489 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. PMID:21586175 https://orcid.org/0000-0002-0736-9199 Inflammation of subcutaneous adipose tissue. 2013-11-29T09:28:11Z SNOMEDCT_US:22125009 UMLS:C0030326 Inflammation of adipose tissue Inflammation of fat tissue human_phenotype HP:0012490 Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. Panniculitis HP:0012490 Inflammation of subcutaneous adipose tissue. PMID:20666823 https://orcid.org/0000-0002-0736-9199 Inflammation of adipose tissue https://orcid.org/0000-0001-5208-3432 Inflammation of fat tissue https://orcid.org/0000-0001-5208-3432 An anomaly of the intracellular membrane complexes known as the dense tubular system. 2013-11-29T09:35:44Z UMLS:C4022881 human_phenotype HP:0012491 The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. Abnormal dense tubular system HP:0012491 An anomaly of the intracellular membrane complexes known as the dense tubular system. PMID:1322202 https://orcid.org/0000-0002-7744-1790 Narrowing or constriction of the inner surface (lumen) of a cerebral artery. 2013-11-30T08:00:55Z UMLS:C1504438 Narrowing of a cerebral artery human_phenotype HP:0012492 Cerebral artery stenosis HP:0012492 Narrowing or constriction of the inner surface (lumen) of a cerebral artery. https://orcid.org/0000-0001-5208-3432 Narrowing of a cerebral artery https://orcid.org/0000-0001-5208-3432 Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. 2013-11-30T08:04:27Z SNOMEDCT_US:21290001000004104 UMLS:C1504568 human_phenotype HP:0012493 Middle cerebral artery stenosis HP:0012493 Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. https://orcid.org/0000-0002-0736-9199 Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. 2013-11-30T08:06:15Z UMLS:C1504567 human_phenotype HP:0012494 Anterior cerebral artery stenosis HP:0012494 Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. https://orcid.org/0000-0002-0736-9199 Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. 2013-11-30T08:07:04Z UMLS:C1504569 human_phenotype HP:0012495 Posterior cerebral artery stenosis HP:0012495 Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. https://orcid.org/0000-0002-0736-9199 A decrease in the maximum amount of negative pressure a person can generate during an inhalation. 2013-11-30T08:24:33Z UMLS:C4022880 human_phenotype HP:0012496 Reduced maximal inspiratory pressure HP:0012496 A decrease in the maximum amount of negative pressure a person can generate during an inhalation. https://orcid.org/0000-0001-5208-3432 A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. 2013-11-30T08:28:49Z UMLS:C4022879 human_phenotype HP:0012497 Reduced maximal expiratory pressure HP:0012497 A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. https://orcid.org/0000-0001-5208-3432 A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. 2013-11-30T08:32:27Z SNOMEDCT_US:302929008 UMLS:C0405124 human_phenotype HP:0012498 Nuchal cord HP:0012498 A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. https://orcid.org/0000-0002-0736-9199 A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. 2013-11-30T08:44:18Z UMLS:C4022878 Type B aortic dissection human_phenotype HP:0012499 According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery). Descending aortic dissection HP:0012499 A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. https://orcid.org/0000-0002-0736-9199 A wartlike (with multiple small elevated projections) papule. 2013-11-30T09:03:16Z UMLS:C4022877 Papillomatous papule human_phenotype HP:0012500 Verrucous papule HP:0012500 A wartlike (with multiple small elevated projections) papule. https://orcid.org/0000-0002-0736-9199 An anomaly of the white matter of brainstem. 2013-11-30T09:19:46Z UMLS:C4022876 Abnormality of the brainstem white matter human_phenotype HP:0012501 Abnormal brainstem white matter morphology HP:0012501 An anomaly of the white matter of brainstem. https://orcid.org/0000-0002-0736-9199 An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. 2013-11-30T09:29:18Z UMLS:C4022875 human_phenotype HP:0012502 Abnormality of the internal capsule HP:0012502 An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus. https://orcid.org/0000-0002-0736-9199 An anomaly of the pituitary gland. 2013-11-30T09:34:21Z SNOMEDCT_US:399244003 UMLS:C0032002 Abnormality of the pituitary gland disorder of pituitary gland human_phenotype HP:0012503 Abnormal pituitary gland morphology HP:0012503 An anomaly of the pituitary gland. https://orcid.org/0000-0002-0736-9199 A deviation from the normal size of the pituitary gland. 2013-11-30T09:36:04Z UMLS:C4022874 human_phenotype HP:0012504 Abnormal size of pituitary gland HP:0012504 A deviation from the normal size of the pituitary gland. https://orcid.org/0000-0002-0736-9199 An abnormally increased size of the pituitary gland. 2013-11-30T09:36:45Z SNOMEDCT_US:237718009 UMLS:C0342422 human_phenotype HP:0012505 Enlarged pituitary gland HP:0012505 An abnormally increased size of the pituitary gland. https://orcid.org/0000-0001-5208-3432 An abnormally decreased size of the pituitary gland. 2013-11-30T09:37:34Z UMLS:C4022873 human_phenotype HP:0012506 Small pituitary gland HP:0012506 An abnormally decreased size of the pituitary gland. https://orcid.org/0000-0001-5208-3432 Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. 2013-12-08T08:12:54Z UMLS:C1839030 Weakness of orbicularis oculi muscles human_phenotype HP:0012507 Weakness of orbicularis oculi muscle HP:0012507 Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. https://orcid.org/0000-0002-0736-9199 Weakness of orbicularis oculi muscles https://orcid.org/0000-0002-5316-1399 A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. 2013-12-08T08:21:46Z SNOMEDCT_US:42134006 UMLS:C0271185 human_phenotype HP:0012508 Metamorphopsia HP:0012508 A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. https://orcid.org/0000-0002-0736-9199 HP:0034591 2013-12-08T08:25:46Z human_phenotype HP:0012509 obsolete Reduced thyroxin-binding globulin true HP:0012509 An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. 2013-12-08T08:37:34Z UMLS:C4022871 Extra-axial CSF accumulation human_phenotype HP:0012510 Extra-axial cerebrospinal fluid accumulation HP:0012510 An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. PMID:22327705 PMID:23838695 https://orcid.org/0000-0002-0736-9199 Extra-axial CSF accumulation A pale yellow discoloration of the temporal (lateral) portion of the optic disc. 2013-12-08T08:55:48Z SNOMEDCT_US:247220006 UMLS:C0344299 human_phenotype HP:0012511 Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. Temporal optic disc pallor HP:0012511 A pale yellow discoloration of the temporal (lateral) portion of the optic disc. PMID:19668477 https://orcid.org/0000-0002-0736-9199 A pale yellow discoloration of the entire optic disc. 2013-12-08T09:02:25Z UMLS:C4022870 human_phenotype HP:0012512 Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head. Diffuse optic disc pallor HP:0012512 A pale yellow discoloration of the entire optic disc. PMID:19668477 https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. 2013-12-08T09:07:11Z SNOMEDCT_US:102556003 UMLS:C0239377 Upper limb pain human_phenotype HP:0012513 Upper limb pain HP:0012513 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. https://orcid.org/0000-0001-5208-3432 Upper limb pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. 2013-12-08T09:10:29Z SNOMEDCT_US:10601006 UMLS:C0023222 Leg pain Lower limb pain human_phenotype HP:0012514 Lower limb pain HP:0012514 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. https://orcid.org/0000-0001-5208-3432 Leg pain Lower limb pain Reduced ability to flex the femur, that is, to pull the knee upward. 2013-12-08T09:14:34Z UMLS:C3279725 human_phenotype HP:0012515 Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. Hip flexor weakness HP:0012515 Reduced ability to flex the femur, that is, to pull the knee upward. https://orcid.org/0000-0001-5208-3432 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. 2013-12-08T09:44:24Z SNOMEDCT_US:253513005 UMLS:C0344882 human_phenotype HP:0012516 Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. Tetralogy of Fallot with pulmonary atresia HP:0012516 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries. PMID:22368654 https://orcid.org/0000-0001-5208-3432 Activity or concentration of catalase in the blood circulation below the lower limit of normal. 2013-12-09T06:49:18Z UMLS:C4022869 Reduced catalase level human_phenotype HP:0012517 Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. Reduced circulating catalase activity HP:0012517 Activity or concentration of catalase in the blood circulation below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 An anomaly of the circle of Willis, also known as the cerebral arterial circle. 2013-12-09T07:03:02Z UMLS:C4022868 Abnormality of the cerebral arterial circle human_phenotype HP:0012518 The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. Abnormal circle of Willis morphology HP:0012518 An anomaly of the circle of Willis, also known as the cerebral arterial circle. https://orcid.org/0000-0002-0736-9199 Abnormality of the cerebral arterial circle https://orcid.org/0000-0001-6908-9849 A developmental anomnaly characterized by underdevelopment of the posterior communicating artery. 2013-12-09T07:06:12Z UMLS:C4020720 human_phenotype Hypoplastic posterior communicating arteries HP:0012519 The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. Hypoplastic posterior communicating artery HP:0012519 A developmental anomnaly characterized by underdevelopment of the posterior communicating artery. https://orcid.org/0000-0001-5208-3432 Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. 2013-12-09T07:17:47Z UMLS:C1853618 UMLS:C4020719 Dilated Virchow-Robin spaces Perivascular spaces human_phenotype Dilated cerebral perivascular spaces HP:0012520 Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through gray or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. Dilation of Virchow-Robin spaces HP:0012520 Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. PMID:17620468 PMID:23867200 PMID:25564639 https://orcid.org/0000-0001-5208-3432 Congenital absence of the optic nerve. 2013-12-12T02:15:31Z UMLS:C4021084 Absent optic nerve Aplastic optic nerve human_phenotype HP:0012521 Optic nerve aplasia HP:0012521 Congenital absence of the optic nerve. https://orcid.org/0000-0002-0736-9199 Absent optic nerve https://orcid.org/0000-0001-6908-9849 A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. 2013-12-14T08:31:15Z UMLS:C4022867 human_phenotype HP:0012522 Spider hemangiomas are up to a few centimeters in diameter. Spider hemangioma HP:0012522 A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. PMID:22356347 https://orcid.org/0000-0002-0736-9199 Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). 2013-12-14T09:18:51Z UMLS:C3665983 human_phenotype HP:0012523 Oral aversion HP:0012523 Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). https://orcid.org/0000-0001-5208-3432 A deviation from the normal discoid platelet shape. 2013-12-15T08:55:03Z UMLS:C4022866 human_phenotype HP:0012524 Abnormal platelet shape HP:0012524 A deviation from the normal discoid platelet shape. https://orcid.org/0000-0002-7744-1790 An anomalous location and arrangement of platelet alpha granules. 2013-12-15T08:56:17Z UMLS:C4022865 human_phenotype HP:0012525 Abnormal alpha granule distribution HP:0012525 An anomalous location and arrangement of platelet alpha granules. https://orcid.org/0000-0002-7744-1790 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. 2013-12-15T08:57:46Z UMLS:C4022864 Gray platelets Grey platelets human_phenotype HP:0012526 Absence of alpha granules HP:0012526 A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears. PMID:3877532 https://orcid.org/0000-0002-0736-9199 Grey platelets A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. 2013-12-15T09:02:48Z UMLS:C4022863 human_phenotype HP:0012527 The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. Abnormal alpha granule content HP:0012527 A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. https://orcid.org/0000-0002-0736-9199 A deviation from the normal count of alpha granules per thrombocyte. 2013-12-15T09:07:34Z UMLS:C4022862 human_phenotype HP:0012528 Abnormal number of alpha granules HP:0012528 A deviation from the normal count of alpha granules per thrombocyte. https://orcid.org/0000-0002-7744-1790 A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. 2013-12-15T09:12:44Z UMLS:C4021839 human_phenotype HP:0012529 Abnormal dense granule content HP:0012529 A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. https://orcid.org/0000-0002-7744-1790 A deviation from the normal count of dense granules per thrombocyte. 2013-12-15T09:12:55Z UMLS:C4022861 human_phenotype HP:0012530 Abnormal number of dense granules HP:0012530 A deviation from the normal count of dense granules per thrombocyte. https://orcid.org/0000-0002-7744-1790 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. 2013-12-15T09:38:08Z SNOMEDCT_US:22253000 UMLS:C0030193 Pain human_phenotype HP:0012531 Pain HP:0012531 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. https://orcid.org/0000-0001-5208-3432 Pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. 2013-12-15T09:46:55Z SNOMEDCT_US:82423001 UMLS:C0150055 Chronic pain Long-lasting pain human_phenotype HP:0012532 Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. Chronic pain HP:0012532 Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. PMID:1875958 https://orcid.org/0000-0002-0736-9199 Chronic pain Long-lasting pain https://orcid.org/0000-0002-6548-5200 Pain due to a stimulus that does not normally provoke pain. 2013-12-15T09:47:40Z SNOMEDCT_US:247404004 UMLS:C0458247 human_phenotype HP:0012533 Allodynia HP:0012533 Pain due to a stimulus that does not normally provoke pain. https://orcid.org/0000-0002-0736-9199 Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. 2013-12-15T09:59:55Z HP:0031005 SNOMEDCT_US:279079003 UMLS:C0392699 Dysaesthesia Hyperalgesia Hyperpathia human_phenotype Dysesthesias HP:0012534 Dysesthesia HP:0012534 Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. https://orcid.org/0000-0001-5208-3432 Dysesthesias https://orcid.org/0000-0002-5316-1399 An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. 2013-12-15T10:12:31Z UMLS:C4021083 Abnormality of neurotransmitter metabolism human_phenotype HP:0012535 Abnormal synaptic transmission HP:0012535 An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. MP:0003635 https://orcid.org/0000-0002-0736-9199 The presence of circulating autoantibodies to anticardiolipin in the mother. 2013-12-15T10:20:51Z UMLS:C4022860 human_phenotype HP:0012536 There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. Maternal anticardiolipin antibody positive HP:0012536 The presence of circulating autoantibodies to anticardiolipin in the mother. PMID:1495720 PMID:9722063 https://orcid.org/0000-0001-5208-3432 A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. 2013-12-15T10:25:19Z SNOMEDCT_US:235719002 UMLS:C0149696 Food intolerance Non-allergic food hypersensitivity human_phenotype HP:0012537 Food intolerance HP:0012537 A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. https://orcid.org/0000-0002-0736-9199 Food intolerance A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. 2013-12-15T10:31:34Z SNOMEDCT_US:396331005 SNOMEDCT_US:441831003 UMLS:C0007570 UMLS:C0850024 Gluten intolerance Gluten sensitivity human_phenotype HP:0012538 Gluten intolerance HP:0012538 A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. https://orcid.org/0000-0002-0736-9199 Gluten intolerance Gluten sensitivity https://orcid.org/0000-0001-6908-9849 A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. 2013-12-15T10:45:49Z SNOMEDCT_US:118601006 SNOMEDCT_US:128929007 SNOMEDCT_US:188675007 SNOMEDCT_US:1929004 UMLS:C0024305 human_phenotype HP:0012539 Non-Hodgkin lymphoma HP:0012539 A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. https://orcid.org/0000-0002-0736-9199 An epidermoid cyst in the armpit. 2013-12-15T10:35:39Z UMLS:C4022859 Armpit cyst human_phenotype HP:0012540 Axillary epidermoid cyst HP:0012540 An epidermoid cyst in the armpit. https://orcid.org/0000-0001-5208-3432 Armpit cyst https://orcid.org/0000-0001-6908-9849 Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. 2013-12-15T10:37:57Z SNOMEDCT_US:206200000 SNOMEDCT_US:83095000 UMLS:C0007722 Cephalohaematoma human_phenotype HP:0012541 Cephalohematoma is generally caused by trauma during labor. Cephalohematoma HP:0012541 Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. https://orcid.org/0000-0001-5208-3432 Thickened nails without deformity. 2013-12-15T10:49:45Z SNOMEDCT_US:30654002 UMLS:C0263536 human_phenotype HP:0012542 Onychauxis HP:0012542 Thickened nails without deformity. https://orcid.org/0000-0002-0736-9199 The presence of hemosiderin in the urine. 2013-12-21T09:09:38Z UMLS:C2721579 human_phenotype HP:0012543 Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. Hemosiderinuria HP:0012543 The presence of hemosiderin in the urine. https://orcid.org/0000-0002-0736-9199 Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. 2013-12-21T09:18:43Z UMLS:C4022858 Elevated aldolase level human_phenotype HP:0012544 Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Elevated circulating aldolase concentration HP:0012544 Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. https://orcid.org/0000-0001-5208-3432 Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal. 2013-12-21T09:20:49Z UMLS:C4022857 Reduced aldolase level human_phenotype HP:0012545 Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. Reduced circulating aldolase concentration HP:0012545 Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal. https://orcid.org/0000-0001-5208-3432 A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. 2013-12-21T09:22:57Z UMLS:C4022856 human_phenotype HP:0012546 X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. Skewed maternal X inactivation HP:0012546 A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells. PMID:18097476 https://orcid.org/0000-0002-0736-9199 Anomalous movements of the eyes that occur without the subject wanting them to happen. 2013-12-21T10:37:42Z UMLS:C4022855 human_phenotype HP:0012547 Abnormal involuntary eye movements HP:0012547 Anomalous movements of the eyes that occur without the subject wanting them to happen. https://orcid.org/0000-0002-0736-9199 Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers 2014-01-01T03:03:05Z UMLS:C4021082 Skeletal muscle fatty infiltration human_phenotype HP:0012548 Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. Fatty replacement of skeletal muscle HP:0012548 Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers https://orcid.org/0000-0001-9046-3540 https://orcid.org/0000-0002-0736-9199 A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. 2014-01-01T03:13:56Z NCIT:C3192 UMLS:C4022854 human_phenotype HP:0012549 Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. Conjunctival lipoma HP:0012549 A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva. https://orcid.org/0000-0002-0736-9199 The presence of varices (enlarged and convoluted blood vessels) in the colon. 2014-01-01T03:54:41Z UMLS:C4022853 human_phenotype HP:0012550 Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension and more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. Colonic varices HP:0012550 The presence of varices (enlarged and convoluted blood vessels) in the colon. PMID:16688816 https://orcid.org/0000-0002-0736-9199 Lack of specific granules in neutrophils. 2014-01-01T03:32:09Z UMLS:C4022852 human_phenotype HP:0012551 Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. Absent neutrophil specific granules HP:0012551 Lack of specific granules in neutrophils. PMID:6155073 https://orcid.org/0000-0002-0736-9199 Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. 2014-01-01T03:41:24Z UMLS:C4022851 human_phenotype HP:0012552 Increased neutrophil nuclear projections HP:0012552 Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs. https://orcid.org/0000-0002-0736-9199 A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. 2014-01-04T12:57:28Z UMLS:C4022850 Small thumbnail Underdeveloped thumbnail human_phenotype HP:0012553 Hypoplastic thumbnail HP:0012553 A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. https://orcid.org/0000-0002-0736-9199 Small thumbnail https://orcid.org/0000-0001-5208-3432 Underdeveloped thumbnail https://orcid.org/0000-0001-5208-3432 Absence of thumb nail. 2014-01-04T01:05:52Z UMLS:C4022849 human_phenotype HP:0012554 Absent thumbnail HP:0012554 Absence of thumb nail. https://orcid.org/0000-0002-0736-9199 Absent nail of big toe. 2014-01-04T01:06:39Z UMLS:C4021081 Absent big toe nail Absent nail of big toe human_phenotype HP:0012555 Absent nail of hallux HP:0012555 Absent nail of big toe. https://orcid.org/0000-0002-0736-9199 Absent big toe nail Absent nail of big toe Increased concentration of beta-alanine in the blood. 2014-01-04T01:37:23Z UMLS:C4021080 High blood beta-alanine levels Hyperbetaalaninemia human_phenotype HP:0012556 Hyperbeta-alaninemia HP:0012556 Increased concentration of beta-alanine in the blood. https://orcid.org/0000-0002-0736-9199 High blood beta-alanine levels https://orcid.org/0000-0001-5208-3432 EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. 2014-01-04T01:43:32Z UMLS:C4022848 human_phenotype HP:0012557 EEG with centrotemporal focal spike waves HP:0012557 EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. https://orcid.org/0000-0002-0736-9199 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. 2014-01-04T01:50:30Z UMLS:C4022847 human_phenotype HP:0012558 Abnormal T3/T4 ratio HP:0012558 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal. PMID:16982586 https://orcid.org/0000-0002-0736-9199 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. 2014-01-04T01:52:59Z UMLS:C4022846 human_phenotype HP:0012559 Increased T3/T4 ratio HP:0012559 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. https://orcid.org/0000-0002-0736-9199 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. 2014-01-04T01:54:13Z UMLS:C4022845 human_phenotype HP:0012560 Decreased T3/T4 ratio HP:0012560 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal. https://orcid.org/0000-0002-0736-9199 The presence of an aortic valve with one instead of the normal three cusps (flaps). 2014-01-08T08:14:15Z SNOMEDCT_US:253610004 UMLS:C0345001 human_phenotype HP:0012561 The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. Unicuspid aortic valve HP:0012561 The presence of an aortic valve with one instead of the normal three cusps (flaps). PMID:18480095 PMID:20329493 https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:02:35Z UMLS:C4022844 human_phenotype HP:0012562 Premature epimetaphyseal fusion in hand HP:0012562 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:05:25Z UMLS:C4022843 human_phenotype HP:0012563 Premature epimetaphyseal fusion in foot HP:0012563 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:07:34Z UMLS:C4022842 human_phenotype HP:0012564 Premature epimetaphyseal fusion in tibia HP:0012564 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:08:23Z UMLS:C4021838 human_phenotype HP:0012565 Premature epimetaphyseal fusion in fibula HP:0012565 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:09:50Z UMLS:C4022841 human_phenotype HP:0012566 Premature epimetaphyseal fusion in radius HP:0012566 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. 2014-01-04T02:10:05Z UMLS:C4022840 human_phenotype HP:0012567 Premature epimetaphyseal fusion in ulna HP:0012567 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone. https://orcid.org/0000-0002-0736-9199 Edema in the region of the Lower eyelid. 2014-01-04T02:25:56Z SNOMEDCT_US:700327003 UMLS:C2025810 UMLS:C3839997 Cellulitis of lower eyelid Fullness of lower eyelid Lower eyelid oedema Puffiness of lower eyelid Swelling of lower eyelid human_phenotype HP:0012568 Lower eyelid edema HP:0012568 Edema in the region of the Lower eyelid. https://orcid.org/0000-0001-5208-3432 Cellulitis of lower eyelid https://orcid.org/0000-0001-5889-4463 Fullness of lower eyelid https://orcid.org/0000-0001-5889-4463 Lower eyelid oedema Puffiness of lower eyelid https://orcid.org/0000-0001-5889-4463 Swelling of lower eyelid https://orcid.org/0000-0001-5889-4463 First period after the age of 15 years. 2014-01-08T08:20:18Z UMLS:C0949173 Delayed start of first period human_phenotype HP:0012569 Delayed menarche HP:0012569 First period after the age of 15 years. https://orcid.org/0000-0002-0736-9199 Delayed start of first period https://orcid.org/0000-0001-5208-3432 A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. 2014-01-08T08:47:50Z SNOMEDCT_US:302851001 SNOMEDCT_US:63211008 UMLS:C0039101 Malignant synovioma human_phenotype HP:0012570 Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. Synovial sarcoma HP:0012570 A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. https://orcid.org/0000-0002-0736-9199 Malignant synovioma https://orcid.org/0000-0001-6908-9849 A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. 2014-01-16T11:38:41Z ICD-10:Q62.5 UMLS:C4021079 Partially duplicated ureter human_phenotype HP:0012571 This anomaly is only seen in the presence of renal duplication. Ureter fissus HP:0012571 A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder. HPO_CONTRIBUTOR:Eurenomics_ewuehl ICD-10:Q62.5 Duplication of ureter A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. 2014-01-16T11:42:00Z ICD-10:Q62.5 SNOMEDCT_US:49496001 UMLS:C0221365 human_phenotype HP:0012572 Ureter duplex HP:0012572 A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder. HPO_CONTRIBUTOR:Eurenomics_fschaefer ICD-10:Q62.5 Duplication of ureter A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. 2014-01-16T12:27:40Z UMLS:C4022839 human_phenotype HP:0012573 Global proximal tubulopathy HP:0012573 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis. https://orcid.org/0000-0002-0736-9199 Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. 2014-01-16T12:43:25Z SNOMEDCT_US:125510009 UMLS:C0545017 Mesangial proliferation human_phenotype HP:0012574 See Figure 3a of PMID:32866505. Mesangial hypercellularity HP:0012574 Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. HPO_CONTRIBUTOR:Eurenomics_fschaefer PMID:32866505 https://orcid.org/0000-0003-2356-950X A structural anomaly of the nephron. 2014-01-16T12:49:04Z UMLS:C4022838 Abnormality of the nephron human_phenotype HP:0012575 Abnormal nephron morphology HP:0012575 A structural anomaly of the nephron. HPO_CONTRIBUTOR:Eurenomics_fschaefer The presence of complement 3 deposits in the glomerulus. 2014-01-16T01:08:21Z UMLS:C4022837 Renal C3 deposition human_phenotype C3 nephropathy HP:0012576 Glomerular C3 deposition HP:0012576 The presence of complement 3 deposits in the glomerulus. HPO_CONTRIBUTOR:Eurenomics_ewuehl Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. 2014-01-16T01:21:17Z UMLS:C3276821 human_phenotype HP:0012577 This finding is demonstrated on renal biopsy. Thin glomerular basement membrane HP:0012577 Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. PMID:32866505 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0003-2356-950X A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. 2014-01-16T01:22:41Z SNOMEDCT_US:77182004 UMLS:C0017665 Membranous glomerulonephritis human_phenotype HP:0012578 Membranous nephropathy HP:0012578 A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. HPO_CONTRIBUTOR:Eurenomics_fschaefer The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. 2014-01-16T01:26:20Z SNOMEDCT_US:44785005 UMLS:C0027721 Minimal change disease Minimal change nephropathy human_phenotype HP:0012579 Minimal change glomerulonephritis HP:0012579 The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. HPO_CONTRIBUTOR:Eurenomics_fschaefer The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. 2014-01-16T01:34:27Z UMLS:C3671880 Ca phosphate nephrolithiasis Ca phosphate urolithiasis Ca2+ phosphate nephrolitiasis Ca2+ phosphate urolithiasis human_phenotype Calcium phosphate urolithiasis HP:0012580 Calcium phosphate nephrolithiasis HP:0012580 The presence of calcium- and phosphate-containing calculi (stones) in the kidneys. https://orcid.org/0000-0002-0736-9199 Ca phosphate nephrolithiasis Ca phosphate urolithiasis Ca2+ phosphate nephrolitiasis Ca2+ phosphate urolithiasis An isolated cyst of the kidney. 2014-01-16T03:06:37Z SNOMEDCT_US:77945009 UMLS:C0268800 UMLS:C4022836 Simple kidney cyst Solitary renal cyst single cortical cyst human_phenotype HP:0012581 Simple renal cyst HP:0012581 An isolated cyst of the kidney. HPO_CONTRIBUTOR:Eurenomics_ewuehl Simple kidney cyst https://orcid.org/0000-0001-6908-9849 A bilateral form of developmental dysplasia of the kidney. 2014-01-16T03:14:35Z SNOMEDCT_US:204950001 UMLS:C0431698 human_phenotype HP:0012582 Bilateral renal dysplasia HP:0012582 A bilateral form of developmental dysplasia of the kidney. https://orcid.org/0000-0002-0736-9199 One sided hypoplasia of the kidney. 2014-01-16T03:15:30Z SNOMEDCT_US:204948009 UMLS:C0431691 Small kidney on one side Underdeveloped kidney on one side human_phenotype HP:0012583 Unilateral renal hypoplasia HP:0012583 One sided hypoplasia of the kidney. HPO_CONTRIBUTOR:Eurenomics_fschaefer Small kidney on one side https://orcid.org/0000-0001-5208-3432 Underdeveloped kidney on one side https://orcid.org/0000-0001-5208-3432 Two sided hypoplasia of the kidney. 2014-01-16T03:16:03Z SNOMEDCT_US:268232000 UMLS:C0431692 human_phenotype HP:0012584 Bilateral renal hypoplasia HP:0012584 Two sided hypoplasia of the kidney. HPO_CONTRIBUTOR:Eurenomics_fschaefer Atrophy of the kidney. 2014-01-16T03:21:19Z SNOMEDCT_US:197659005 UMLS:C0341698 Kidney degeneration human_phenotype HP:0012585 Renal atrophy HP:0012585 Atrophy of the kidney. https://orcid.org/0000-0002-0736-9199 Kidney degeneration https://orcid.org/0000-0001-5208-3432 A two-sided form of atrophy of the kidney. 2014-01-16T03:21:55Z UMLS:C4022835 Bilateral kidney degeneration human_phenotype HP:0012586 Bilateral renal atrophy HP:0012586 A two-sided form of atrophy of the kidney. https://orcid.org/0000-0002-0736-9199 Bilateral kidney degeneration https://orcid.org/0000-0001-5208-3432 Hematuria that is visible upon inspection of the urine. 2014-01-16T03:31:44Z SNOMEDCT_US:197941005 UMLS:C0473237 Bloody urine Gross hematuria human_phenotype HP:0012587 Macroscopic hematuria HP:0012587 Hematuria that is visible upon inspection of the urine. https://orcid.org/0009-0006-4530-3154 Bloody urine https://orcid.org/0000-0001-6908-9849 Gross hematuria https://orcid.org/0000-0001-6908-9849 A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. 2014-01-16T03:47:57Z SNOMEDCT_US:236381000 UMLS:C0403397 SRNS human_phenotype HP:0012588 Genetic studies and biopsy are necessary. Treatment depends on result. Genetic forms are treated symptomatically with ACE-inhibitor or angiotensin receptor blockers. Non-genetic forms are usually treated with calcineurin inhibitors. Prognosis is worse than in SSNS. 50 % progress into end-stage renal disease. Steroid-resistant nephrotic syndrome HP:0012588 A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. HPO_CONTRIBUTOR:Eurenomics_ewuehl PMID:29910038 https://orcid.org/0000-0002-2234-4248 SRNS A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. 2014-01-16T03:48:49Z UMLS:C4022834 human_phenotype HP:0012589 Multidrug-resistant nephrotic syndrome HP:0012589 A form of nephrotic syndrome that does not respond to any immunosuppresive treatment. HPO_CONTRIBUTOR:Eurenomics_ewuehl An abnormal amount of urine production. 2014-01-16T03:59:33Z UMLS:C3693260 human_phenotype HP:0012590 Abnormal urine output HP:0012590 An abnormal amount of urine production. HPO_CONTRIBUTOR:Eurenomics_ewuehl An abnormality in the concentration of electrolytes in the urine. 2014-01-16T05:44:11Z UMLS:C4022833 Urinary electrolyte imbalance human_phenotype HP:0012591 Abnormal urinary electrolyte concentration HP:0012591 An abnormality in the concentration of electrolytes in the urine. PMID:25215103 Increased concentration of albumin in the urine. 2014-01-16T05:49:16Z SNOMEDCT_US:274769005 UMLS:C0001925 human_phenotype HP:0012592 Albuminuria HP:0012592 Increased concentration of albumin in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. 2014-01-16T05:50:21Z SNOMEDCT_US:264867001 UMLS:C0445118 human_phenotype HP:0012593 Nephrotic range proteinuria HP:0012593 Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. HPO_CONTRIBUTOR:Eurenomics_ewuehl The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). 2014-01-16T05:54:41Z SNOMEDCT_US:312975006 UMLS:C0730345 UMLS:C1654921 High urine albumin levels Microalbuminuria human_phenotype HP:0012594 Moderate albuminuria HP:0012594 The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). HPO_CONTRIBUTOR:Eurenomics_fschaefer PMID:30571025 High urine albumin levels https://orcid.org/0000-0001-5208-3432 Mildly increased levels of protein in the urine (150-500 mg per day in adults). 2014-01-16T05:55:47Z UMLS:C4022832 human_phenotype HP:0012595 Mild proteinuria HP:0012595 Mildly increased levels of protein in the urine (150-500 mg per day in adults). HPO_CONTRIBUTOR:Eurenomics_eweuehl Moderately increased levels of protein in the urine (500-1000 mg per day in adults). 2014-01-16T05:56:26Z UMLS:C4022831 human_phenotype HP:0012596 Moderate proteinuria HP:0012596 Moderately increased levels of protein in the urine (500-1000 mg per day in adults). HPO_CONTRIBUTOR:Eurenomics_fschaefer Severely increased levels of protein in the urine (1000-3000 mg per day in adults). 2014-01-16T05:56:38Z UMLS:C4022830 Severely high blood protein levels human_phenotype HP:0012597 Heavy proteinuria HP:0012597 Severely increased levels of protein in the urine (1000-3000 mg per day in adults). HPO_CONTRIBUTOR:Eurenomics_ewuehl Severely high blood protein levels https://orcid.org/0000-0001-5208-3432 An abnormal concentration of potassium(1+) in the urine. 2014-01-16T06:11:59Z UMLS:C4022829 Abnormal urine K concentration human_phenotype HP:0012598 Abnormal urine potassium concentration HP:0012598 An abnormal concentration of potassium(1+) in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer Abnormal urine K concentration An abnormal phosphate concentration in the urine. 2014-01-16T06:14:49Z UMLS:C4022828 human_phenotype HP:0012599 Abnormal urine phosphate concentration HP:0012599 An abnormal phosphate concentration in the urine. HPO_CONTRIBUTOR:Eurenomics_ewuehl An abnormal concentration of chloride in the urine. 2014-01-16T06:16:24Z UMLS:C4022827 Abnormal urine Cl concentration Abnormal urine Cl- concentration human_phenotype HP:0012600 Abnormal urine chloride concentration HP:0012600 An abnormal concentration of chloride in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer Abnormal urine Cl concentration https://orcid.org/0000-0001-7941-2961 Abnormal urine Cl- concentration https://orcid.org/0000-0001-7941-2961 An decreased concentration of chloride in the urine. 2014-01-16T06:17:06Z UMLS:C4021078 Decreased urinary chloride Low urine chloride levels human_phenotype HP:0012601 Hypochloriduria HP:0012601 An decreased concentration of chloride in the urine. https://orcid.org/0000-0002-0736-9199 Low urine chloride levels https://orcid.org/0000-0001-5208-3432 High urine chloride in the presence of hypochloridemia. 2014-01-16T06:18:11Z UMLS:C4022826 Kidney chloride wasting Renal Cl wasting Renal Cl- wasting human_phenotype HP:0012602 Renal chloride wasting HP:0012602 High urine chloride in the presence of hypochloridemia. HPO_CONTRIBUTOR:Eurenomics_ewuehl Kidney chloride wasting https://orcid.org/0000-0001-7941-2961 Renal Cl wasting https://orcid.org/0000-0001-7941-2961 Renal Cl- wasting https://orcid.org/0000-0001-7941-2961 An abnormal concentration of sodium in the urine. 2014-01-16T06:19:27Z UMLS:C4022825 Abnormal urine Na concentration Abnormal urine Na+ levels human_phenotype HP:0012603 Abnormal urine sodium concentration HP:0012603 An abnormal concentration of sodium in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer An abnormally decreased sodium concentration in the urine. 2014-01-16T06:22:09Z UMLS:C4022824 Low urine sodium levels human_phenotype HP:0012604 Hyponatriuria HP:0012604 An abnormally decreased sodium concentration in the urine. HPO_CONTRIBUTOR:Eurenomics_ewuehl Low urine sodium levels https://orcid.org/0000-0001-5208-3432 An increased concentration of sodium(1+) in the urine. 2014-01-16T06:22:44Z HP:0003608 UMLS:C3671887 Increased urinary sodium human_phenotype HP:0012605 Hypernatriuria HP:0012605 An increased concentration of sodium(1+) in the urine. HPO_CONTRIBUTOR:Eurenomics_ewuehl An abnormally increased sodium concentration in the urine in the presence of hyponatremia. 2014-01-16T06:23:16Z UMLS:C2748576 Kidney sodium wasting Renal Na wasting Renal Na+ wasting human_phenotype HP:0012606 Renal sodium wasting HP:0012606 An abnormally increased sodium concentration in the urine in the presence of hyponatremia. HPO_CONTRIBUTOR:Eurenomics_ewuehl Renal Na wasting Renal Na+ wasting An abnormal concentration of magnesium the urine. 2014-01-17T11:37:50Z UMLS:C4022823 Abnormal urine magnesium concentration human_phenotype HP:0012607 Abnormal urine magnesium concentration HP:0012607 An abnormal concentration of magnesium the urine. HPO_CONTRIBUTOR:Eurenomics_ewuehl Abnormal urine magnesium concentration An increased concentration of magnesium the urine. 2014-01-17T11:38:51Z UMLS:C2673443 human_phenotype HP:0012608 Hypermagnesiuria HP:0012608 An increased concentration of magnesium the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer An decreased concentration of magnesium the urine. 2014-01-17T11:39:31Z UMLS:C3203528 Decreased urine magnesium Low urine magnesium levels human_phenotype HP:0012609 Hypomagnesiuria HP:0012609 An decreased concentration of magnesium the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer Decreased urine magnesium Low urine magnesium levels https://orcid.org/0000-0001-5208-3432 Abnormal amount of urate in the urine. 2014-01-17T11:56:43Z UMLS:C4022822 human_phenotype HP:0012610 Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. Abnormality of urinary uric acid level HP:0012610 Abnormal amount of urate in the urine. https://orcid.org/0000-0002-0736-9199 HP:0003149 2014-01-17T11:57:29Z human_phenotype HP:0012611 obsolete Increased urinary urate true HP:0012611 Abnormal concentration of sulfate in the urine. 2014-01-17T11:58:23Z UMLS:C4022821 Abnormal urinary sulphate concentration human_phenotype HP:0012612 Abnormal urinary sulfate concentration HP:0012612 Abnormal concentration of sulfate in the urine. https://orcid.org/0000-0002-0736-9199 Abnormal urinary sulphate concentration Elevated concentration of SO4(2-), i.e., sulfate, in the urine. 2014-01-17T11:58:51Z UMLS:C4022820 Increased urinary sulphate human_phenotype HP:0012613 Increased urinary sulfate HP:0012613 Elevated concentration of SO4(2-), i.e., sulfate, in the urine. https://orcid.org/0000-0002-0736-9199 Increased urinary sulphate An anomalous finding in the examination of the urine for cells. 2014-01-17T12:01:16Z SNOMEDCT_US:310439007 UMLS:C0587955 human_phenotype HP:0012614 Abnormal urine cytology HP:0012614 An anomalous finding in the examination of the urine for cells. HPO_CONTRIBUTOR:Eurenomics_ewuehl The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. 2014-01-17T12:03:19Z SNOMEDCT_US:5277004 UMLS:C0151990 Urinary casts human_phenotype HP:0012615 Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. Cylindruria HP:0012615 The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine. HPO_CONTRIBUTOR:Eurenomics_ewuehl PMID:26079824 Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle. PMID:26079824 Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. 2014-01-17T12:05:08Z UMLS:C4022819 White blood cell casts human_phenotype HP:0012616 Leukocyte cylindruria HP:0012616 Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. 2014-01-17T12:06:50Z UMLS:C4022818 Red blood cell casts Urinary erythrocyte cast human_phenotype HP:0012617 Erythrocyte cylindruria HP:0012617 Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine. HPO_CONTRIBUTOR:Eurenomics_fschaefer PMID:8856231 A cyst located along the allantois canal. 2014-01-17T12:15:15Z SNOMEDCT_US:17234001 UMLS:C0041915 human_phenotype HP:0012618 Urachal cyst HP:0012618 A cyst located along the allantois canal. HPO_CONTRIBUTOR:Eurenomics_fschaefer Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. 2014-01-17T12:21:05Z UMLS:C4022817 Multiple pouches in bladder wall human_phenotype HP:0012619 Multiple bladder diverticula HP:0012619 Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. HPO_CONTRIBUTOR:Eurenomics_fschaefer Multiple pouches in bladder wall https://orcid.org/0000-0001-6908-9849 A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. 2014-01-17T12:27:06Z UMLS:C4022816 human_phenotype HP:0012620 Cloacal abnormality HP:0012620 A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate. https://orcid.org/0000-0002-0736-9199 Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. 2014-01-17T12:28:30Z SNOMEDCT_US:74829002 UMLS:C0266225 Cloacogenic bladder human_phenotype HP:0012621 Persistent cloaca HP:0012621 Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. https://orcid.org/0000-0002-0736-9199 Functional anomaly of the kidney persisting for at least three months. 2014-01-17T01:14:52Z HP:0000106 HP:0001918 HP:0008671 SNOMEDCT_US:709044004 UMLS:C0748318 UMLS:C1561643 CKD Chronic kidney disease human_phenotype Loss of renal function Progressive renal failure Progressive renal insufficiency Renal failure, progressive Renal insufficiency, progressive HP:0012622 Chronic kidney disease HP:0012622 Functional anomaly of the kidney persisting for at least three months. HPO_CONTRIBUTOR:Eurenomics_ewuehl CKD Chronic kidney disease Renal failure, progressive https://orcid.org/0000-0002-5316-1399 A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). 2014-01-17T01:20:48Z SNOMEDCT_US:431855005 UMLS:C2316401 human_phenotype HP:0012623 Proteinuria is commonly seen in stage 1 chronic kidney disease. Stage 1 chronic kidney disease HP:0012623 A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). HPO_CONTRIBUTOR:Eurenomics_fschaefer A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). 2014-01-17T01:22:13Z SNOMEDCT_US:431856006 UMLS:C2316786 human_phenotype HP:0012624 Stage 2 chronic kidney disease HP:0012624 A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). HPO_CONTRIBUTOR:Eurenomics_fschaefer A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). 2014-01-17T01:22:43Z SNOMEDCT_US:433144002 UMLS:C2316787 human_phenotype HP:0012625 Stage 3 chronic kidney disease HP:0012625 A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2). HPO_CONTRIBUTOR:Eurenomics_fschaefer A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). 2014-01-17T01:23:43Z SNOMEDCT_US:431857002 UMLS:C2317473 Stage 4 chronic kidney disease human_phenotype HP:0012626 Stage 4 chronic kidney disease HP:0012626 A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). HPO_CONTRIBUTOR:Eurenomics_fschaefer Stage 4 chronic kidney disease Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. 2014-01-17T10:50:32Z UMLS:C4022815 human_phenotype HP:0012627 In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. Pseudoexfoliation HP:0012627 Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PMID:23157966 https://orcid.org/0000-0002-0736-9199 An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. 2014-01-17T10:59:37Z UMLS:C4021077 Abnormality of the suspensory ligament of lens Abnormality of zinn's membrane Ciliary zonule abnormality Zonule of zinn abnormality human_phenotype HP:0012628 Abnormal suspensory ligament of lens morphology HP:0012628 An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. https://orcid.org/0000-0002-0736-9199 Abnormality of zinn's membrane https://en.wikipedia.org/wiki/zonule_of_zinn https://orcid.org/0000-0001-6908-9849 Zonule of zinn abnormality https://en.wikipedia.org/wiki/zonule_of_zinn https://orcid.org/0000-0001-6908-9849 Tremulousness (trembling) of the lens of the eye. 2014-01-17T11:03:09Z SNOMEDCT_US:116669003 UMLS:C2939415 Phacodonesis Trembling eye lens human_phenotype HP:0012629 Phacodonesis results from lesions of some or most of the zonular fibers are broken. Phakodonesis HP:0012629 Tremulousness (trembling) of the lens of the eye. PMID:5472193 https://orcid.org/0000-0002-0736-9199 Trembling eye lens https://orcid.org/0000-0001-6908-9849 An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. 2014-01-17T11:12:27Z UMLS:C4022814 Abnormality of the trabecular meshwork human_phenotype HP:0012630 Abnormal trabecular meshwork morphology HP:0012630 An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm. https://orcid.org/0000-0002-0736-9199 Accumulation of abnormal amounts of pigment within the trabecular meshwork. 2014-01-17T11:15:03Z UMLS:C3805899 human_phenotype HP:0012631 Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. Pigment deposition in the trabecular meshwork HP:0012631 Accumulation of abnormal amounts of pigment within the trabecular meshwork. https://orcid.org/0000-0002-0736-9199 An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. 2014-01-17T11:20:17Z MP:0005257 SNOMEDCT_US:24075007 UMLS:C0520999 Abnormal eye pressure Abnormal intraocular pressure human_phenotype HP:0012632 Abnormal intraocular pressure HP:0012632 An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. https://orcid.org/0000-0002-0736-9199 MP:0005257 Abnormal intraocular pressure Abnormal eye pressure https://orcid.org/0000-0001-6908-9849 Abnormal intraocular pressure A difference in the amount of intraocular pressure in the right and left eye. 2014-01-17T11:21:18Z UMLS:C3805901 human_phenotype HP:0012633 Asymmetry of intraocular pressure HP:0012633 A difference in the amount of intraocular pressure in the right and left eye. https://orcid.org/0000-0002-0736-9199 Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. 2014-01-17T11:30:02Z UMLS:C4022813 human_phenotype HP:0012634 These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. Iris pigment dispersion HP:0012634 Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. https://orcid.org/0000-0002-0736-9199 Reduction in the amount of blood flow to the iris. 2014-01-17T11:41:07Z UMLS:C4022812 human_phenotype HP:0012635 This feature can be diagnosed by iris angiography. Iris hypoperfusion HP:0012635 Reduction in the amount of blood flow to the iris. https://orcid.org/0000-0002-0736-9199 Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion. 2014-01-17T11:43:32Z SNOMEDCT_US:46085004 UMLS:C0035328 Retinal vein occlusion human_phenotype HP:0012636 Retinal vein occlusion is generally associated with systemic cardiovascular diseases. Retinal venous occlusion HP:0012636 Blockage of a retinal vein or venule, occurring typically at an arteriovenous crossing. Typically presenting with dilated veins, retinal hemorrhages and in some cases non-perfusion. https://orcid.org/0000-0002-0736-9199 High urine calcium in the presence of hypocalcemia. 2014-01-18T04:46:41Z UMLS:C2673441 Kidney Ca wasting Kidney Ca2+ wasting Kidney calcium wasting Renal Ca wasting Renal Ca2+ wasting human_phenotype HP:0012637 Renal calcium wasting HP:0012637 High urine calcium in the presence of hypocalcemia. https://orcid.org/0000-0002-0736-9199 Kidney Ca wasting Kidney Ca2+ wasting Kidney calcium wasting https://orcid.org/0000-0001-6908-9849 Renal Ca wasting Renal Ca2+ wasting A functional anomaly of the nervous system. 2014-01-19T08:02:46Z UMLS:C4022811 Abnormality of nervous system physiology human_phenotype HP:0012638 Abnormal nervous system physiology HP:0012638 A functional anomaly of the nervous system. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the nervous system. 2014-01-19T08:03:08Z Fyler:4135 Fyler:4300 UMLS:C4022810 Abnormal shape of nervous system Abnormality of nervous system morphology human_phenotype HP:0012639 Abnormal nervous system morphology HP:0012639 A structural anomaly of the nervous system. https://orcid.org/0000-0002-0736-9199 Abnormal shape of nervous system https://orcid.org/0000-0001-5208-3432 A deviation from the norm of the intracranial pressure. 2014-01-19T08:06:51Z UMLS:C4022809 human_phenotype HP:0012640 Intracranial pressure (i.e., the pressure inside the skull) represents the pressure in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. Abnormality of intracranial pressure HP:0012640 A deviation from the norm of the intracranial pressure. https://orcid.org/0000-0002-0736-9199 A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. 2014-01-19T08:15:01Z SNOMEDCT_US:167714004 SNOMEDCT_US:277657001 UMLS:C0456892 Intracranial hypotension human_phenotype HP:0012641 Decreased intracranial pressure HP:0012641 A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. 2014-01-22T08:14:57Z UMLS:C4022808 human_phenotype HP:0012642 Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. A secondary pontine hypoplasia is typically seen. The definition of cerebellar agenesis is based on the morphologic pattern and does not suggest the pathogenesis. Cerebellar agenesis may represent a malformation (e.g., mutations in PTF1A) or a disruption (e.g., hemorrhage that occurs during gestation or in the perinatal period, vascular insufficiency in Chiari II malformation and cerebellar herniation, and as a sequela of prematurity). Cerebellar agenesis HP:0012642 Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. PMID:20305277 PMID:26331051 https://orcid.org/0000-0002-0736-9199 Decreased amount of pigmentation in the fovea. 2014-01-22T09:25:34Z HP:0500088 UMLS:C4022807 Foveal depigmentation human_phenotype HP:0012643 Foveal hypopigmentation HP:0012643 Decreased amount of pigmentation in the fovea. PMID:24023426 https://orcid.org/0000-0002-0736-9199 An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. 2014-01-28T08:19:22Z UMLS:C4022806 human_phenotype HP:0012644 Increased caudate lactate level HP:0012644 An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging. PMID:23810640 https://orcid.org/0000-0002-0736-9199 Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. 2014-02-01T12:44:16Z UMLS:C2675074 human_phenotype Enlarged peripheral nerves HP:0012645 This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). Enlarged peripheral nerve HP:0012645 Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. https://orcid.org/0000-0002-0736-9199 Enlarged peripheral nerves https://orcid.org/0000-0002-5316-1399 A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. 2014-02-01T12:57:41Z SNOMEDCT_US:21779006 UMLS:C0520578 Retractile testicle human_phenotype HP:0012646 Retractile testis HP:0012646 A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. PMID:23061004 PMID:4380054 https://orcid.org/0000-0002-0736-9199 Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. 2014-02-01T01:25:42Z UMLS:C4022805 Abnormal inflammatory response human_phenotype HP:0012647 Abnormal inflammatory response HP:0012647 Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. https://orcid.org/0000-0001-9114-8737 Abnormal inflammatory response An abnormal reduction in the inflammatory response to injury or infection. 2014-02-01T01:29:24Z UMLS:C4022804 Decreased inflammatory response human_phenotype HP:0012648 Decreased inflammatory response HP:0012648 An abnormal reduction in the inflammatory response to injury or infection. https://orcid.org/0000-0001-9114-8737 Decreased inflammatory response A abnormal increase in the inflammatory response to injury or infection. 2014-02-01T01:29:58Z UMLS:C4022803 human_phenotype HP:0012649 Increased inflammatory response HP:0012649 A abnormal increase in the inflammatory response to injury or infection. https://orcid.org/0000-0001-9114-8737 Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. 2014-02-06T07:47:51Z HP:0007095 UMLS:C3279675 Frontoparietal polymicrogyria human_phenotype HP:0012650 The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly. Perisylvian polymicrogyria HP:0012650 Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. PMID:15159468 PMID:20301504 http://www.wikidata.org/entity/Q90573458 https://orcid.org/0000-0002-0736-9199 A severe form of gait ataxia such that an affected person cannot walk at all. 2014-02-06T07:52:50Z UMLS:C0877217 human_phenotype HP:0012651 Abasia HP:0012651 A severe form of gait ataxia such that an affected person cannot walk at all. https://orcid.org/0000-0002-0736-9199 Asthma attacks following exercise. 2014-02-12T10:42:14Z SNOMEDCT_US:31387002 UMLS:C0004099 Exercise-induced asthma human_phenotype HP:0012652 Exercise-induced asthma HP:0012652 Asthma attacks following exercise. https://orcid.org/0000-0002-0736-9199 Exercise-induced asthma Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. 2014-02-12T10:43:34Z SNOMEDCT_US:708090002 UMLS:C0038218 Acute severe asthma human_phenotype HP:0012653 Status asthmaticus HP:0012653 Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine. PMID:22794687 https://orcid.org/0000-0002-0736-9199 Acute severe asthma Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). 2014-02-15T10:35:24Z UMLS:C4022802 Abnormal CSF dopamine level human_phenotype HP:0012654 Abnormal CSF dopamine concentration HP:0012654 Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). https://orcid.org/0000-0001-9114-8737 Increased concentration of dopamine in the cerebrospinal fluid (CSF). 2014-02-15T10:36:53Z UMLS:C4022801 human_phenotype HP:0012655 Elevated CSF dopamine concentration HP:0012655 Increased concentration of dopamine in the cerebrospinal fluid (CSF). https://orcid.org/0000-0001-9114-8737 Decreased concentration of dopamine in the cerebrospinal fluid (CSF). 2014-02-15T10:37:27Z UMLS:C4022800 human_phenotype HP:0012656 Reduced CSF dopamine concentration HP:0012656 Decreased concentration of dopamine in the cerebrospinal fluid (CSF). https://orcid.org/0000-0001-9114-8737 A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. 2014-02-15T11:22:18Z UMLS:C4022799 Abnormal brain PET scan human_phenotype HP:0012657 Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). Abnormal brain positron emission tomography HP:0012657 A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain. https://orcid.org/0000-0002-0736-9199 Abnormal brain PET scan An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. 2014-02-15T11:29:38Z UMLS:C4022798 Abnormal brain FDG PET scan human_phenotype HP:0012658 Abnormal brain FDG positron emission tomography HP:0012658 An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. https://orcid.org/0000-0002-0736-9199 Abnormal brain FDG PET scan Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. 2014-02-15T11:33:12Z UMLS:C4022797 human_phenotype HP:0012659 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. Prefrontal hypometabolism in FDG PET HP:0012659 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan. PMID:23585882 https://orcid.org/0000-0002-0736-9199 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. 2014-02-15T11:35:25Z UMLS:C4022796 human_phenotype HP:0012660 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. Thalamic hypometabolism in FDG PET HP:0012660 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan. https://orcid.org/0000-0002-0736-9199 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. 2014-02-15T11:37:59Z UMLS:C4022795 human_phenotype HP:0012661 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. Hypothalamic hypometabolism in FDG PET HP:0012661 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan. https://orcid.org/0000-0002-0736-9199 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. 2014-02-15T11:45:41Z UMLS:C4022794 human_phenotype HP:0012662 Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. Parietal hypometabolism in FDG PET HP:0012662 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. PMID:15073255 https://orcid.org/0000-0002-0736-9199 A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. 2014-02-15T01:06:28Z UMLS:C4022793 Mildly reduced ejection fraction human_phenotype HP:0012663 Mildly reduced left ventricular ejection fraction HP:0012663 A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent. PMID:16376782 PMID:27206819 https://orcid.org/0000-0002-0736-9199 A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. 2014-02-15T01:03:37Z UMLS:C4022792 Reduced ejection fraction human_phenotype HP:0012664 The normal range is at least 55 percent. Reduced left ventricular ejection fraction HP:0012664 A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. https://orcid.org/0000-0002-0736-9199 A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent. 2014-02-15T01:08:33Z UMLS:C4022791 Moderately reduced ejection fraction human_phenotype HP:0012665 The normal range in adults is over 50 percent, and a moderate reduction can be defined as 30-39 percent. Moderately reduced left ventricular ejection fraction HP:0012665 A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent. PMID:16376782 PMID:27206819 PMID:29083812 https://orcid.org/0000-0002-0736-9199 A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. 2014-02-15T01:09:02Z UMLS:C4022790 Severely reduced ejection fraction human_phenotype HP:0012666 Severely reduced left ventricular ejection fraction HP:0012666 A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. PMID:16376782 PMID:27206819 PMID:29083812 https://orcid.org/0000-0002-0736-9199 An abnormal motion of a segment of the left ventricle during the cardiac cycle. 2014-02-15T01:12:48Z UMLS:C4022789 human_phenotype HP:0012667 This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. Regional left ventricular wall motion abnormality HP:0012667 An abnormal motion of a segment of the left ventricle during the cardiac cycle. https://orcid.org/0000-0002-0736-9199 A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. 2014-02-15T01:33:13Z SNOMEDCT_US:234167006 SNOMEDCT_US:398652001 SNOMEDCT_US:398665005 UMLS:C0042420 UMLS:C0340854 Neurocardiogenic syncope Reflex syncope Situational syncope Vasovagal episode human_phenotype HP:0012668 Vasovagal syncope HP:0012668 A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. PMID:29262088 An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. 2014-02-15T01:39:14Z SNOMEDCT_US:51723007 UMLS:C0221046 human_phenotype HP:0012669 Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). Carotid sinus syncope HP:0012669 An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion. https://orcid.org/0000-0002-0736-9199 Syncope following a quick change in position from lying down to standing. 2014-02-15T01:41:57Z UMLS:C0749201 human_phenotype HP:0012670 Orthostatic syncope HP:0012670 Syncope following a quick change in position from lying down to standing. https://orcid.org/0000-0002-0736-9199 Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions. 2014-02-27T10:48:32Z UMLS:C0919974 Aboulia human_phenotype HP:0012671 Abulia is less severe than kinetic mutism and more severe than apathy. Abulia HP:0012671 The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor. 2014-02-27T10:50:59Z SNOMEDCT_US:53333005 UMLS:C0001889 Stuporous mutism human_phenotype HP:0012672 Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. Akinetic mutism HP:0012672 The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor. https://orcid.org/0000-0002-0736-9199 A failure to develop of the upper vagina. 2014-02-27T11:00:26Z UMLS:C4022788 Absent upper vagina human_phenotype HP:0012673 The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. Aplasia of the upper vagina HP:0012673 A failure to develop of the upper vagina. https://orcid.org/0000-0002-0736-9199 Absent upper vagina https://orcid.org/0000-0001-5208-3432 A failure to develop of the lower part of the vagina. 2014-02-27T11:09:14Z SNOMEDCT_US:253834007 UMLS:C0431646 Absent lower vagina Agenesis of the lower vagina human_phenotype HP:0012674 Aplasia of the lower vagina HP:0012674 A failure to develop of the lower part of the vagina. https://orcid.org/0000-0002-0736-9199 Absent lower vagina https://orcid.org/0000-0001-5208-3432 An abnormal build up of iron (Fe) in brain tissue. 2014-03-13T07:22:40Z UMLS:C4021076 Brain iron deposition Iron accumulation in brain human_phenotype HP:0012675 Iron accumulation in brain HP:0012675 An abnormal build up of iron (Fe) in brain tissue. https://orcid.org/0000-0002-0736-9199 Iron accumulation in brain An anomalous build up of copper (Cu) in the brain. 2014-03-13T07:28:03Z UMLS:C4022787 Brain copper accumulation Copper accumulation in brain human_phenotype HP:0012676 Copper accumulation in brain HP:0012676 An anomalous build up of copper (Cu) in the brain. https://orcid.org/0000-0002-0736-9199 Copper accumulation in brain HP:0002454 2014-03-13T07:29:37Z human_phenotype HP:0012677 obsolete Iron accumulation in globus pallidus true HP:0012677 An anomalous build up of iron (Fe) in the substantia nigra. 2014-03-13T07:29:54Z UMLS:C4022785 human_phenotype HP:0012678 Iron accumulation in substantia nigra HP:0012678 An anomalous build up of iron (Fe) in the substantia nigra. https://orcid.org/0000-0002-0736-9199 An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. 2014-03-22T12:41:17Z UMLS:C4022784 human_phenotype HP:0012679 Widened interpedicular distance HP:0012679 An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. HPO_CONTRIBUTOR:UToronto_htrang An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. 2014-03-22T12:46:36Z UMLS:C4022783 human_phenotype HP:0012680 Abnormality of the pineal gland HP:0012680 An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin. https://orcid.org/0000-0002-0736-9199 A structural abnormality of the pineal gland. 2014-03-22T12:50:21Z UMLS:C4022782 Abnormality of pineal morphology human_phenotype HP:0012681 The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. Abnormal pineal morphology HP:0012681 A structural abnormality of the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang Accumulation of calcium salts in the pineal gland. 2014-03-22T12:51:57Z UMLS:C1398718 human_phenotype HP:0012682 This feature can be appreciated on skull radiography. Pineal gland calcification HP:0012682 Accumulation of calcium salts in the pineal gland. https://orcid.org/0000-0002-0736-9199 A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. 2014-03-22T01:01:45Z SNOMEDCT_US:413099000 UMLS:C1335411 human_phenotype HP:0012683 Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. Pineal cyst HP:0012683 A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. PMID:21801982 https://orcid.org/0000-0002-0736-9199 An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. 2014-03-22T01:08:48Z UMLS:C4022781 human_phenotype HP:0012684 This feature is typically assessed by magnetic resonance tomography of the brain. Abnormal pineal volume HP:0012684 An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. 2014-03-22T01:10:12Z UMLS:C4022780 human_phenotype HP:0012685 Decreased pineal volume HP:0012685 An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang PMID:24456088 An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. 2014-03-22T01:11:33Z UMLS:C4022779 human_phenotype HP:0012686 Increased pineal volume HP:0012686 An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. 2014-03-22T01:13:13Z UMLS:C3553078 human_phenotype HP:0012687 Agenesis of pineal gland HP:0012687 Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. HPO_CONTRIBUTOR:UToronto_htrang A functional abnormality of the pineal gland. 2014-03-22T01:15:36Z UMLS:C4022778 human_phenotype HP:0012688 Abnormality of pineal physiology HP:0012688 A functional abnormality of the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. 2014-03-22T01:16:40Z UMLS:C4022777 human_phenotype HP:0012689 The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. Abnormal pineal melatonin secretion HP:0012689 An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. HPO_CONTRIBUTOR:UToronto_htrang PMID:22724080 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. 2014-03-22T04:32:50Z UMLS:C4022776 human_phenotype HP:0012690 T2 hypointense thalamus HP:0012690 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. https://orcid.org/0000-0002-0736-9199 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. 2014-03-22T04:52:32Z UMLS:C4022775 human_phenotype HP:0012691 Focal T2 hypointense thalamic lesion HP:0012691 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. https://orcid.org/0000-0002-0736-9199 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. 2014-03-22T04:54:03Z UMLS:C4022774 human_phenotype HP:0012692 The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. Focal T2 hyperintense thalamic lesion HP:0012692 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. https://orcid.org/0000-0002-0736-9199 Deviation from the normal range of size of the thalamus. 2014-03-22T05:45:51Z UMLS:C4022773 human_phenotype HP:0012693 Abnormal thalamic size HP:0012693 Deviation from the normal range of size of the thalamus. HPO_CONTRIBUTOR:UToronto_htrang An increase in the quantity of space occupied by the thalamus. 2014-03-22T05:47:14Z UMLS:C4022772 human_phenotype HP:0012694 Enlarged thalamic volume HP:0012694 An increase in the quantity of space occupied by the thalamus. HPO_CONTRIBUTOR:UToronto_htrang A reduction in the quantity of space occupied by the thalamus. 2014-03-22T05:48:28Z UMLS:C4022771 human_phenotype HP:0012695 Decreased thalamic volume HP:0012695 A reduction in the quantity of space occupied by the thalamus. HPO_CONTRIBUTOR:UToronto_htrang A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. 2014-03-22T05:49:08Z UMLS:C4022770 human_phenotype HP:0012696 Abnormal thalamic MRI signal intensity HP:0012696 A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. https://orcid.org/0000-0002-0736-9199 Decreased size of the basal ganglia. 2014-03-22T06:01:22Z UMLS:C4022769 human_phenotype HP:0012697 Small basal ganglia HP:0012697 Decreased size of the basal ganglia. https://orcid.org/0000-0002-0736-9199 Focal proliferation of glial cells in the cerebellum. 2014-03-22T06:03:03Z UMLS:C4022768 human_phenotype HP:0012698 Cerebellar gliosis HP:0012698 Focal proliferation of glial cells in the cerebellum. HPO_CONTRIBUTOR:UToronto_htrang A structural abnormality of a diaphysis of the leg. 2014-03-22T06:14:15Z UMLS:C4022767 Anomaly of shaft of long bone of lower limb human_phenotype HP:0012699 Anomaly of lower limb diaphyses HP:0012699 A structural abnormality of a diaphysis of the leg. HPO_CONTRIBUTOR:UToronto_htrang Anomaly of shaft of long bone of lower limb https://orcid.org/0000-0001-5208-3432 A functional anomaly of the large intestine. 2014-03-22T06:20:38Z UMLS:C4022766 human_phenotype HP:0012700 Abnormal large intestine physiology HP:0012700 A functional anomaly of the large intestine. https://orcid.org/0000-0002-0736-9199 A sudden, irresistible need to have a bowel movement. 2014-03-22T06:22:14Z SNOMEDCT_US:71820002 UMLS:C0426636 Faecal urgency Fecal urgency human_phenotype HP:0012701 Bowel urgency HP:0012701 A sudden, irresistible need to have a bowel movement. HPO_CONTRIBUTOR:UToronto_htrang Faecal urgency A repeated, painful urge to defecate without excreting stool. 2014-03-22T06:23:05Z SNOMEDCT_US:267053000 SNOMEDCT_US:6548007 UMLS:C0232726 human_phenotype HP:0012702 Tenesmus HP:0012702 A repeated, painful urge to defecate without excreting stool. https://orcid.org/0000-0002-0736-9199 Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. 2014-03-22T07:45:24Z UMLS:C4022765 Abnormality of the subarachnoid space human_phenotype HP:0012703 Abnormal subarachnoid space morphology HP:0012703 Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. HPO_CONTRIBUTOR:UToronto_htrang An increase in size of the anatomic space between the arachnoid membrane and pia mater. 2014-03-22T07:59:21Z UMLS:C1846151 Enlarged subarachnoid space human_phenotype Widened subarachnoid spaces HP:0012704 Widened subarachnoid space HP:0012704 An increase in size of the anatomic space between the arachnoid membrane and pia mater. https://orcid.org/0000-0002-0736-9199 Widened subarachnoid spaces https://orcid.org/0000-0002-5316-1399 An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). 2014-03-22T08:04:18Z UMLS:C4022764 human_phenotype HP:0012705 MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. Abnormal metabolic brain imaging by MRS HP:0012705 An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). https://orcid.org/0000-0002-0736-9199 An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). 2014-03-22T08:06:29Z UMLS:C4022763 human_phenotype HP:0012706 The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. Elevated brain choline level by MRS HP:0012706 An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). HPO_CONTRIBUTOR:UToronto_htrang An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). 2014-03-22T08:08:20Z UMLS:C4022762 human_phenotype HP:0012707 Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumors. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. Elevated brain lactate level by MRS HP:0012707 An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). HPO_CONTRIBUTOR:UToronto_htrang A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). 2014-03-22T08:09:12Z UMLS:C4022761 MR Spectroscopy: N-acetylaspartate low in brain Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy human_phenotype HP:0012708 N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. Reduced brain N-acetyl aspartate level by MRS HP:0012708 A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). HPO_CONTRIBUTOR:UToronto_htrang A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). 2014-03-22T08:12:15Z UMLS:C4022760 human_phenotype HP:0012709 Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. Abnormal brain choline/creatine ratio by MRS HP:0012709 A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS). HPO_CONTRIBUTOR:UToronto_htrang Excessive growth of a nail laterally into the nail fold. 2014-03-23T12:09:47Z SNOMEDCT_US:400097005 SNOMEDCT_US:400200009 UMLS:C0027343 Ingrown nail human_phenotype HP:0012710 Ingrown nail HP:0012710 Excessive growth of a nail laterally into the nail fold. https://orcid.org/0000-0002-0736-9199 Ingrown nail A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. 2014-03-23T12:27:51Z UMLS:C4022759 UMLS:C4280312 human_phenotype Delayed maturation of the end part of the vertebral bone HP:0012711 Delayed ossification of vertebral epiphysis HP:0012711 A delay in the process of formation and maturation of the epiphysis of one or more vertebrae. https://orcid.org/0000-0002-0736-9199 Delayed maturation of the end part of the vertebral bone https://orcid.org/0000-0001-5208-3432 The presence of a mild form of hearing impairment. 2014-03-23T12:33:46Z UMLS:C4022758 Mild hearing impairment human_phenotype HP:0012712 Mild hearing impairment HP:0012712 The presence of a mild form of hearing impairment. https://orcid.org/0000-0002-0736-9199 Mild hearing impairment The presence of a moderate form of hearing impairment. 2014-03-23T12:35:59Z UMLS:C4022757 Moderate hearing impairment human_phenotype HP:0012713 Moderate hearing impairment HP:0012713 The presence of a moderate form of hearing impairment. https://orcid.org/0000-0002-0736-9199 Moderate hearing impairment A severe form of hearing impairment. 2014-03-23T12:37:33Z SNOMEDCT_US:3561000119106 UMLS:C3874334 Severe deafness Severe hearing impairment Severe hearing loss human_phenotype HP:0012714 Severe hearing impairment HP:0012714 A severe form of hearing impairment. https://orcid.org/0000-0002-0736-9199 Severe deafness https://orcid.org/0000-0001-6908-9849 Severe hearing impairment Severe hearing loss https://orcid.org/0000-0001-6908-9849 A profound (essentially complete) form of hearing impairment. 2014-03-23T12:38:39Z UMLS:C4022756 Profound hearing impairment human_phenotype HP:0012715 Profound hearing impairment HP:0012715 A profound (essentially complete) form of hearing impairment. https://orcid.org/0000-0002-0736-9199 Profound hearing impairment The presence of a moderate form of conductive hearing impairment. 2014-03-23T12:40:05Z UMLS:C4021075 Conductive hearing loss, moderate human_phenotype HP:0012716 Conductive hearing impairment with 21-40 dB deficit. Moderate conductive hearing impairment HP:0012716 The presence of a moderate form of conductive hearing impairment. https://orcid.org/0000-0002-0736-9199 A severe form of conductive hearing impairment. 2014-03-23T12:40:51Z UMLS:C4021074 Conductive hearing loss, severe human_phenotype HP:0012717 Conductive hearing impairment with 21-40 dB deficit. Severe conductive hearing impairment HP:0012717 A severe form of conductive hearing impairment. https://orcid.org/0000-0002-0736-9199 Abnormal structure of the gastrointestinal tract. 2014-03-23T01:09:02Z UMLS:C4021073 Abnormal shape of the digestive system Morphological abnormality of the GI tract Morphological abnormality of the gastrointestinal tract Morphological anomaly of the digestive system human_phenotype HP:0012718 Abnormal gastrointestinal tract morphology HP:0012718 Abnormal structure of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 Abnormal shape of the digestive system https://orcid.org/0000-0001-5208-3432 Morphological abnormality of the GI tract Abnormal functionality of the gastrointestinal tract. 2014-03-23T01:10:47Z UMLS:C4022755 Functional abnormality of the GI tract GI dysfunction human_phenotype HP:0012719 Functional abnormality of the gastrointestinal tract HP:0012719 Abnormal functionality of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 Functional abnormality of the GI tract GI dysfunction https://orcid.org/0000-0001-5208-3432 Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. 2014-03-23T01:16:06Z HP:0100637 NCIT:C3262 SNOMEDCT_US:126669004 UMLS:C0028433 UMLS:C0751394 Nasal neoplasm Nasal tumor Nasal tumour Neoplasia of the nose Nose cancer Tumor of the nose Tumour of the nose human_phenotype HP:0012720 Neoplasm of the nose HP:0012720 Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. https://orcid.org/0000-0002-0736-9199 Nasal tumor https://orcid.org/0000-0001-5889-4463 Nasal tumour Nose cancer Tumor of the nose https://orcid.org/0000-0001-5889-4463 Tumour of the nose A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. 2014-03-23T01:20:33Z SNOMEDCT_US:297222002 UMLS:C2937220 Venous malformations human_phenotype HP:0012721 Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. Venous malformation HP:0012721 A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. https://orcid.org/0000-0002-0736-9199 Venous malformations https://orcid.org/0000-0002-5316-1399 Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. 2014-03-23T01:32:14Z SNOMEDCT_US:233916004 UMLS:C0018794 human_phenotype HP:0012722 Heart block HP:0012722 Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. https://orcid.org/0000-0002-0736-9199 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. 2014-03-23T01:34:01Z Fyler:7014 SNOMEDCT_US:65778007 UMLS:C0037188 human_phenotype HP:0012723 Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. Sinoatrial block HP:0012723 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. https://orcid.org/0000-0002-0736-9199 Edema in the region of the upper eyelid. 2014-03-23T01:38:57Z SNOMEDCT_US:700339006 UMLS:C2025988 UMLS:C3839407 Cellulitis of upper eyelid Fullness of upper eyelid Puffiness of upper eyelid Swelling of upper eyelid Upper eyelid oedema human_phenotype HP:0012724 Upper eyelid edema HP:0012724 Edema in the region of the upper eyelid. https://orcid.org/0000-0002-0736-9199 Cellulitis of upper eyelid https://orcid.org/0000-0001-5889-4463 Fullness of upper eyelid Puffiness of upper eyelid https://orcid.org/0000-0001-5889-4463 Swelling of upper eyelid Upper eyelid oedema A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. 2014-03-23T01:40:45Z UMLS:C1861921 Cutaneous syndactyly of digits Syndactyly, cutaneous human_phenotype HP:0012725 Cutaneous syndactyly HP:0012725 A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. https://orcid.org/0000-0002-0736-9199 An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. 2014-03-23T02:08:24Z UMLS:C4022754 Recurrent low potassium human_phenotype HP:0012726 Episodic hypokalemia HP:0012726 An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. https://orcid.org/0000-0002-0736-9199 Recurrent low potassium https://orcid.org/0000-0001-6908-9849 An abnormal localized widening (dilatation) of the thoracic aorta. 2014-03-23T02:22:20Z Dilatation of the thoracic aorta SNOMEDCT_US:433068007 UMLS:C0162872 human_phenotype HP:0012727 Aneurysm is considered a severe form of dilatation. Thoracic aortic aneurysm HP:0012727 An abnormal localized widening (dilatation) of the thoracic aorta. https://orcid.org/0000-0002-0736-9199 A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall 2014-03-23T02:26:12Z Dilatation of the fusiform descending thoracic aorta UMLS:C4022753 human_phenotype HP:0012728 Aneurysm is considered a severe form of dilatation. Fusiform descending thoracic aortic aneurysm HP:0012728 A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall https://orcid.org/0000-0002-0736-9199 An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall 2014-03-23T02:27:11Z Dilatation of the saccular descending thoracic aorta UMLS:C4022752 human_phenotype HP:0012729 Aneurysm is considered a severe form of dilatation. Saccular descending thoracic aortic aneurysm HP:0012729 An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall https://orcid.org/0000-0002-0736-9199 Absence of the tongue owing to a developmental abnormality. 2014-03-23T02:30:53Z Missing tongue SNOMEDCT_US:74788000 UMLS:C0158663 Absence of tongue Failure of development of tongue human_phenotype HP:0012730 Aglossia HP:0012730 Absence of the tongue owing to a developmental abnormality. https://orcid.org/0000-0002-0736-9199 Missing tongue https://orcid.org/0000-0001-5889-4463 Failure of development of tongue https://orcid.org/0000-0001-5889-4463 Abnormal anatomic location of the anterior pituitary gland. 2014-03-23T02:41:41Z HP:0011765 UMLS:C4022751 human_phenotype HP:0012731 Ectopic anterior pituitary gland HP:0012731 Abnormal anatomic location of the anterior pituitary gland. https://orcid.org/0000-0002-0736-9199 An abnormality of the anus or rectum. 2014-03-23T02:48:00Z SNOMEDCT_US:33225004 UMLS:C3495676 human_phenotype HP:0012732 Anorectal anomaly HP:0012732 An abnormality of the anus or rectum. https://orcid.org/0000-0002-0736-9199 A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. 2014-03-23T02:54:25Z SNOMEDCT_US:112629002 UMLS:C0332573 Flat, discolored area of skin Flat, discoloured area of skin human_phenotype HP:0012733 Macule HP:0012733 A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. https://orcid.org/0000-0002-0736-9199 Flat, discolored area of skin https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Flat, discoloured area of skin Low blood glucose is accompanied by elevated levels of ketone bodies in the body. 2014-03-23T03:00:50Z SNOMEDCT_US:20825002 UMLS:C0271713 Ketotic low blood sugar human_phenotype HP:0012734 Ketotic hypoglycemia HP:0012734 Low blood glucose is accompanied by elevated levels of ketone bodies in the body. https://orcid.org/0000-0002-0736-9199 Ketotic low blood sugar https://orcid.org/0000-0001-6908-9849 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. 2014-03-23T03:19:50Z SNOMEDCT_US:263731006 SNOMEDCT_US:272039006 SNOMEDCT_US:49727002 UMLS:C0010200 Cough Coughing human_phenotype HP:0012735 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory maneuver, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. Cough HP:0012735 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. PMID:16428719 PMID:17540788 https://orcid.org/0000-0002-0736-9199 Cough Coughing A profound delay in the achievement of motor or mental milestones in the domains of development of a child. 2014-03-23T03:21:25Z UMLS:C1855773 UMLS:C3553450 Global developmental delay, profound human_phenotype Psychomotor retardation, profound HP:0012736 Profound global developmental delay HP:0012736 A profound delay in the achievement of motor or mental milestones in the domains of development of a child. https://orcid.org/0000-0002-6410-0882 Psychomotor retardation, profound https://orcid.org/0000-0002-5316-1399 A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. 2014-03-23T03:50:25Z SNOMEDCT_US:399723004 UMLS:C1302645 human_phenotype HP:0012737 Polyp is a morphological description rather than a histological diagnosis. morphologic description, not a specific histologic diagnosis. Polyps can be neoplastic (e.g., adenoma, carcinoma) or non-neoplastic (e.g., hyperplastic, inflammatory, or hamartomatous). Small intestinal polyp HP:0012737 A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. https://orcid.org/0000-0002-0736-9199 Agenesis of canine tooth. 2014-03-23T04:26:04Z UMLS:C4021072 UMLS:C4280311 Absent canines Failure of development of canine Failure of development of eye tooth human_phenotype Absence of canine Absence of eye tooth Missing canine Missing eye tooth HP:0012738 Agenesis of canine HP:0012738 Agenesis of canine tooth. https://orcid.org/0000-0002-0736-9199 Absent canines Failure of development of canine https://orcid.org/0000-0001-5889-4463 Failure of development of eye tooth https://orcid.org/0000-0001-5889-4463 Absence of canine https://orcid.org/0000-0001-5889-4463 Absence of eye tooth https://orcid.org/0000-0001-5889-4463 Missing canine https://orcid.org/0000-0001-5889-4463 Missing eye tooth https://orcid.org/0000-0001-5889-4463 Failure to develop of the small intestine. 2014-03-23T04:28:53Z UMLS:C4021071 Small bowel agenesis Undeveloped small intestine human_phenotype HP:0012739 Agenesis of the small intestine HP:0012739 Failure to develop of the small intestine. https://orcid.org/0000-0002-0736-9199 Undeveloped small intestine https://orcid.org/0000-0001-6908-9849 A tumor of the skin or mucous membrane with finger-like projections. 2014-03-23T04:36:41Z SNOMEDCT_US:23730008 SNOMEDCT_US:711329002 UMLS:C0030354 human_phenotype HP:0012740 The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. Papilloma HP:0012740 A tumor of the skin or mucous membrane with finger-like projections. https://orcid.org/0000-0002-0736-9199 Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. 2014-03-23T04:41:57Z SNOMEDCT_US:268227001 UMLS:C0431664 Cryptorchidism, unilateral human_phenotype HP:0012741 Unilateral cryptorchidism HP:0012741 Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. https://orcid.org/0000-0002-0736-9199 Fingernail that appears thin when viewed on end. 2014-03-23T04:47:40Z HP:0040037 UMLS:C4022750 Thin fingernail human_phenotype HP:0012742 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. Thin fingernail HP:0012742 Fingernail that appears thin when viewed on end. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Thin fingernail Excessive fat around the stomach and abdomen. 2014-03-23T05:00:05Z SNOMEDCT_US:248311001 UMLS:C0311277 Abdominal obesity Central obesity human_phenotype HP:0012743 Abdominal obesity HP:0012743 Excessive fat around the stomach and abdomen. https://orcid.org/0000-0002-0736-9199 Abdominal obesity Central obesity https://orcid.org/0000-0002-5316-1399 Failure of the femur to develop. 2014-03-23T05:14:34Z SNOMEDCT_US:47276000 UMLS:C0265629 Absent femur Absent thighbone Aplasia of the femur human_phenotype HP:0012744 Femoral aplasia HP:0012744 Failure of the femur to develop. https://orcid.org/0000-0002-0736-9199 Absent thighbone https://orcid.org/0000-0001-5208-3432 Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. 2014-03-23T05:27:40Z SNOMEDCT_US:246802000 UMLS:C0423112 Decreased height of palpebral fissure Short opening between the eyelids Short palpebral fissures human_phenotype HP:0012745 Short palpebral fissure HP:0012745 Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. PMID:19125427 Decreased height of palpebral fissure https://orcid.org/0000-0001-5889-4463 Short opening between the eyelids https://orcid.org/0000-0001-5889-4463 Short palpebral fissures https://orcid.org/0000-0002-5316-1399 Toenail that appears thin when viewed on end. 2014-03-23T05:34:43Z HP:0040038 UMLS:C3554113 Thin toenail human_phenotype Thin toenails HP:0012746 No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. Thin toenail HP:0012746 Toenail that appears thin when viewed on end. PMID:19125433 https://orcid.org/0000-0002-0736-9199 Thin toenail Thin toenails https://orcid.org/0000-0002-5316-1399 A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. 2014-03-30T06:41:13Z UMLS:C4022749 human_phenotype HP:0012747 Abnormal brainstem MRI signal intensity HP:0012747 A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. HPO_CONTRIBUTOR:UToronto_htrang A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. 2014-03-30T06:43:06Z UMLS:C4022748 human_phenotype HP:0012748 Focal T2 hyperintense brainstem lesion HP:0012748 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. HPO_CONTRIBUTOR:UToronto_htrang A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. 2014-03-30T06:43:56Z UMLS:C4022747 human_phenotype HP:0012749 Focal T2 hypointense brainstem lesion HP:0012749 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. HPO_CONTRIBUTOR:UToronto_htrang A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. 2014-03-30T06:44:29Z UMLS:C4022746 human_phenotype HP:0012750 T2 hypointense brainstem HP:0012750 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem. HPO_CONTRIBUTOR:UToronto_htrang A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. 2014-03-30T06:47:28Z UMLS:C4022745 human_phenotype HP:0012751 Abnormal basal ganglia MRI signal intensity HP:0012751 A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. HPO_CONTRIBUTOR:UToronto_htrang A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. 2014-03-30T06:52:14Z UMLS:C4022744 human_phenotype HP:0012752 Focal T2 hypointense basal ganglia lesion HP:0012752 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. https://orcid.org/0000-0002-0736-9199 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. 2014-03-30T06:52:42Z UMLS:C4022743 human_phenotype HP:0012753 T2 hypointense basal ganglia HP:0012753 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. https://orcid.org/0000-0002-0736-9199 Increased amount of myelin in the central nervous system. 2014-03-30T07:15:56Z UMLS:C4022742 human_phenotype HP:0012754 CNS hypermyelination HP:0012754 Increased amount of myelin in the central nervous system. HPO_CONTRIBUTOR:UToronto_htrang Abnormal increase in size of the brainstem. 2014-03-30T07:23:06Z UMLS:C4022741 human_phenotype HP:0012755 An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. Enlarged brainstem HP:0012755 Abnormal increase in size of the brainstem. HPO_CONTRIBUTOR:UToronto_htrang An increased polymorphonuclear cell count in the cerebrospinal fluid. 2014-04-02T01:07:51Z UMLS:C4022740 human_phenotype HP:0012756 CSF polymorphonuclear pleocytosis HP:0012756 An increased polymorphonuclear cell count in the cerebrospinal fluid. HPO_CONTRIBUTOR:KI_phemming A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. 2014-04-02T05:12:30Z UMLS:C4022739 Abnormal neuron shape Abnormal neuronal morphology human_phenotype HP:0012757 Abnormal neuron morphology HP:0012757 A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions. HPO_CONTRIBUTOR:KI_phemming PMID:28723006 Abnormal neuron shape https://orcid.org/0000-0001-5208-3432 Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. 2014-04-03T12:16:19Z UMLS:C4022738 NDD human_phenotype HP:0012758 Though the definitions of NDD vary broadly in the literature, all are used to signify a delay in one or more developmental domains compared to typical development. Neurodevelopmental delay HP:0012758 Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. PMID:31783983 https://orcid.org/0000-0002-6670-9157 NDD A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. 2014-04-03T12:20:28Z UMLS:C4022737 human_phenotype HP:0012759 This term should be used to describe abnormalities with onset in the developmental period. Neurodevelopmental abnormality HP:0012759 A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. HPO_CONTRIBUTOR:KI_phemming A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. 2014-04-03T12:52:44Z HP:0000735 HP:5200004 HP:5200103 HP:5200131 UMLS:C4022736 Impaired social interaction Impaired social interactions Impaired social reciprocity Poor social interactions human_phenotype HP:0012760 Reciprocity can be assessed by determining the extent to which a child demonstrates activity similar to that of peers or of the examiner (e.g., playing the same game), shows turn-taking behavior, or recognizes the intentions of the other person and contributes to an activity that a peer or the examiner has initiated. In the diagnostic process, it may be difficult to decide whether limitations in social behavior of children with intellectual disability (ID) are due to a co-occurring autism spectrum disorder (ASD) and are often unduly attributed to the ID, a phenomenon also known as diagnostic overshadowing. This term is intended to apply to impaired social reciprocity that is not attributed to ID. Reduced social responsiveness HP:0012760 A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. PMID:28707360 PMID:34924788 Impaired social reciprocity https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Poor social interactions A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. 2014-04-03T01:06:18Z HP:0200110 UMLS:C4021070 Absent mastoids Failure of development of mastoid Mastoid agenesis human_phenotype HP:0012761 Absent mastoid HP:0012761 A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent. https://orcid.org/0000-0002-0736-9199 Failure of development of mastoid https://orcid.org/0000-0001-5889-4463 Mastoid agenesis https://orcid.org/0000-0001-5889-4463 The presence of atrophy (wasting) of the cerebral white matter. 2014-04-06T10:55:36Z UMLS:C4022735 human_phenotype HP:0012762 Cerebral white matter atrophy HP:0012762 The presence of atrophy (wasting) of the cerebral white matter. HPO_CONTRIBUTOR:UToronto_htrang A sudden attack of dyspnea that occurs while the affected person is at rest. 2014-04-06T10:58:39Z SNOMEDCT_US:59265000 UMLS:C0013405 Paroxysmal dyspnoea human_phenotype HP:0012763 Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. Paroxysmal dyspnea HP:0012763 A sudden attack of dyspnea that occurs while the affected person is at rest. https://orcid.org/0000-0002-0736-9199 Paroxysmal dyspnoea A sensation of breathlessness in the recumbent position, relieved by sitting or standing. 2014-04-06T11:03:04Z SNOMEDCT_US:62744007 UMLS:C0085619 human_phenotype HP:0012764 Orthopnea HP:0012764 A sensation of breathlessness in the recumbent position, relieved by sitting or standing. HPO_CONTRIBUTOR:UToronto_htrang An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. 2014-04-06T11:06:46Z UMLS:C4022734 human_phenotype HP:0012765 Widened cerebellar subarachnoid space HP:0012765 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. HPO_CONTRIBUTOR:UToronto_htrang An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. 2014-04-06T11:08:12Z UMLS:C4022733 human_phenotype HP:0012766 Widened cerebral subarachnoid space HP:0012766 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. HPO_CONTRIBUTOR:UToronto_htrang A deviation from normal size of the placenta. 2014-04-07T12:11:29Z UMLS:C4022732 human_phenotype HP:0012767 Abnormal placental size HP:0012767 A deviation from normal size of the placenta. https://orcid.org/0000-0002-0736-9199 Respiratory failure in the newborn. 2014-04-07T12:39:08Z SNOMEDCT_US:28314004 SNOMEDCT_US:413654009 UMLS:C0004045 Asphyxia neonatorum human_phenotype HP:0012768 Neonatal asphyxia HP:0012768 Respiratory failure in the newborn. https://orcid.org/0000-0002-0736-9199 A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) 2014-04-07T03:09:08Z UMLS:C4022731 Abnormal arm span human_phenotype HP:0012769 Abnormal arm span HP:0012769 A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) https://orcid.org/0000-0002-0736-9199 Abnormal arm span Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). 2014-04-07T03:09:58Z UMLS:C4022730 Reduced arm span human_phenotype HP:0012770 Reduced arm span HP:0012770 Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). https://orcid.org/0000-0002-0736-9199 Reduced arm span Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). 2014-04-07T03:10:35Z UMLS:C4022729 Increased arm span human_phenotype HP:0012771 Increased arm span HP:0012771 Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). https://orcid.org/0000-0002-0736-9199 Increased arm span A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. 2014-04-07T03:12:56Z UMLS:C4022728 human_phenotype HP:0012772 Abnormal upper to lower segment ratio HP:0012772 A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. https://orcid.org/0000-0002-0736-9199 Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. 2014-04-07T03:14:28Z UMLS:C1836996 human_phenotype HP:0012773 A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. Reduced upper to lower segment ratio HP:0012773 Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. https://orcid.org/0000-0002-0736-9199 Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. 2014-04-07T03:16:21Z UMLS:C1844571 human_phenotype HP:0012774 Increased upper to lower segment ratio HP:0012774 Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. https://orcid.org/0000-0002-0736-9199 A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. 2014-04-07T03:54:41Z UMLS:C4022727 human_phenotype HP:0012775 Stellate iris HP:0012775 A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. HPO_CONTRIBUTOR:CINEAS_asollie A structural anomaly of the ciliary body. 2014-04-07T04:00:10Z UMLS:C4022726 Abnormality of the ciliary body human_phenotype HP:0012776 Abnormal ciliary body morphology HP:0012776 A structural anomaly of the ciliary body. HPO_CONTRIBUTOR:CINEAS_asollie A benign or malignant tumor (abnormal growth of tissue) of the retina. 2014-04-07T05:38:24Z NCIT:C3262 SNOMEDCT_US:127002001 UMLS:C0524801 human_phenotype HP:0012777 Retinal neoplasm HP:0012777 A benign or malignant tumor (abnormal growth of tissue) of the retina. HPO_CONTRIBUTOR:CINEAS_asollie A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. 2014-04-07T05:38:54Z UMLS:C4022725 human_phenotype HP:0012778 Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. Retinal astrocytic hamartoma HP:0012778 A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. PMID:20435268 PMID:23436975 Hearing loss that occurs acutely and resolves completely. 2014-04-07T06:09:19Z UMLS:C4022724 human_phenotype HP:0012779 Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. Transient hearing impairment HP:0012779 Hearing loss that occurs acutely and resolves completely. PMID:21776317 A tumor (abnormal growth of tissue) of the ear. 2014-04-07T06:11:56Z NCIT:C3262 SNOMEDCT_US:363228008 UMLS:C0013449 Ear tumor Ear tumour human_phenotype HP:0012780 Neoplasm of the ear HP:0012780 A tumor (abnormal growth of tissue) of the ear. https://orcid.org/0000-0002-0736-9199 Ear tumor https://orcid.org/0000-0001-5208-3432 Ear tumour A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). 2014-04-08T11:04:07Z UMLS:C4022723 human_phenotype HP:0012781 Mid-frequency hearing loss HP:0012781 A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz). https://orcid.org/0000-0002-0736-9199 A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. 2014-04-20T03:23:16Z SNOMEDCT_US:405935000 UMLS:C1319017 Perilobar nephrogenic rests human_phenotype HP:0012782 Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. Perilobar nephrogenic rest HP:0012782 A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe. PMID:20301471 https://orcid.org/0000-0002-0736-9199 Perilobar nephrogenic rests A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. 2014-04-20T03:24:35Z SNOMEDCT_US:405934001 UMLS:C1319016 Intralobar nephrogenic rests human_phenotype HP:0012783 Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). Intralobar nephrogenic rest HP:0012783 A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls. PMID:20301471 https://orcid.org/0000-0002-0736-9199 Intralobar nephrogenic rests Inflammation of the connective and adipose tissues surrounding the kidney. 2014-04-20T03:32:07Z SNOMEDCT_US:111404004 UMLS:C0031065 human_phenotype HP:0012784 Perinephritis HP:0012784 Inflammation of the connective and adipose tissues surrounding the kidney. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. 2014-04-20T04:09:34Z UMLS:C1857304 Flexion deformity of finger human_phenotype HP:0012785 Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. Flexion contracture of finger HP:0012785 Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. https://orcid.org/0000-0002-0736-9199 Repeated infections of the urinary bladder. 2014-04-22T09:18:06Z SNOMEDCT_US:197853008 UMLS:C0581366 Recurrent bladder infections human_phenotype HP:0012786 One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. Recurrent cystitis HP:0012786 Repeated infections of the urinary bladder. PMID:20639019 https://orcid.org/0000-0002-0736-9199 Recurrent bladder infections https://orcid.org/0000-0001-5208-3432 Repeated episodes of pyelonephritis. 2014-04-22T09:24:10Z UMLS:C0748199 human_phenotype HP:0012787 Recurrent pyelonephritis HP:0012787 Repeated episodes of pyelonephritis. https://orcid.org/0000-0002-0736-9199 A net-like pattern of increased pigmentation of the oral cavity. 2014-04-22T09:31:07Z UMLS:C1852148 Mottled pigmentation of oral mucosa Reticulate pigmentation of oral mucous membrane human_phenotype HP:0012788 Reticulate pigmentation of oral mucosa HP:0012788 A net-like pattern of increased pigmentation of the oral cavity. https://orcid.org/0000-0002-0736-9199 Mottled pigmentation of oral mucosa https://orcid.org/0000-0001-5889-4463 Reticulate pigmentation of oral mucous membrane https://orcid.org/0000-0001-5889-4463 Underdevelopment of the heel bone. 2014-04-22T09:58:48Z UMLS:C3550873 Hypoplastic calcaneus Small heel bone Underdeveloped heel bone human_phenotype HP:0012789 Hypoplasia of the calcaneus HP:0012789 Underdevelopment of the heel bone. https://orcid.org/0000-0002-0736-9199 Small heel bone https://orcid.org/0000-0001-5208-3432 Underdeveloped heel bone https://orcid.org/0000-0001-5208-3432 An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. 2014-04-24T10:18:31Z UMLS:C4021069 Abnormal intramembranous bone ossification human_phenotype HP:0012790 Abnormal intramembranous ossification HP:0012790 An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed. https://orcid.org/0000-0002-0736-9199 An anomaly of the process of formation of bone in the humerus. 2014-04-24T10:23:43Z UMLS:C4022722 Abnormal maturation of long bone in upper arm human_phenotype HP:0012791 Abnormal humeral ossification HP:0012791 An anomaly of the process of formation of bone in the humerus. https://orcid.org/0000-0002-0736-9199 Abnormal maturation of long bone in upper arm https://orcid.org/0000-0001-5208-3432 A lack of bone mineralization of one or more body of thoracic vertebra. 2014-04-24T11:05:14Z UMLS:C4022721 human_phenotype HP:0012792 Absent ossification of thoracic vertebral bodies HP:0012792 A lack of bone mineralization of one or more body of thoracic vertebra. https://orcid.org/0000-0002-0736-9199 A kinked appearance of the brainstem, i.e., an exaggerated flexure. 2014-04-25T02:51:49Z UMLS:C4021068 Kinked brain stem human_phenotype HP:0012793 Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. Kinked brainstem HP:0012793 A kinked appearance of the brainstem, i.e., an exaggerated flexure. PMID:16301726 https://orcid.org/0000-0002-0736-9199 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. 2014-04-25T03:00:01Z UMLS:C4022720 Periventricular cerebral white matter hypodensities human_phenotype HP:0012794 See also definition for "Deep white matter hypodensities". These two entities are in contra-distinction to each other. Periventricular white matter hypodensities HP:0012794 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. PMID:16239634 https://orcid.org/0000-0002-0736-9199 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. 2014-05-24T04:37:10Z UMLS:C3808249 human_phenotype HP:0012795 The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. Abnormal optic disc morphology HP:0012795 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. https://orcid.org/0000-0002-0736-9199 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. 2014-05-24T04:43:52Z UMLS:C3805911 Elevated cup to disc ratio Elevated cup to disk ratio Increased cup disc ratio Increased cup disk ratio Optic cupping human_phenotype HP:0012796 A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. Increased cup-to-disc ratio HP:0012796 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. PMID:23557744 https://orcid.org/0000-0002-0736-9199 Elevated cup to disc ratio Increased cup disc ratio A benign or malignant neoplasm arising from the lymphatic vessels. 2014-05-24T05:00:34Z NCIT:C3262 SNOMEDCT_US:115236002 UMLS:C0206619 Lymphatic vessel tumor Lymphatic vessel tumour human_phenotype HP:0012797 Lymphatic vessel neoplasm HP:0012797 A benign or malignant neoplasm arising from the lymphatic vessels. NCIT:C3723 Lymphatic vessel tumor https://orcid.org/0000-0001-5208-3432 Lymphatic vessel tumour Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. 2014-05-24T05:00:46Z SNOMEDCT_US:73017001 UMLS:C0238399 UMLS:C0751674 Pulmonary myomatosis human_phenotype Lymphangioleiomyomatosis HP:0012798 Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. Pulmonary lymphangiomyomatosis HP:0012798 Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. https://orcid.org/0000-0002-0736-9199 One-sided weakness of the muscles of facial expression and eye closure. 2014-05-25T10:35:53Z UMLS:C0239516 UMLS:C4022719 Facial droop Paralysis of one side of the face Unilateral facial muscle paralysis Unilateral facial muscle weakness Unilateral facial paralysis Unilateral facial weakness Weakness of one side of the face human_phenotype HP:0012799 Unilateral facial palsy HP:0012799 One-sided weakness of the muscles of facial expression and eye closure. https://orcid.org/0000-0002-0736-9199 Facial droop Paralysis of one side of the face https://orcid.org/0000-0001-5889-4463 Unilateral facial muscle paralysis https://orcid.org/0000-0001-5889-4463 Unilateral facial muscle weakness https://orcid.org/0000-0001-5889-4463 Unilateral facial paralysis https://orcid.org/0000-0001-5889-4463 Unilateral facial weakness https://orcid.org/0000-0001-5889-4463 Weakness of one side of the face https://orcid.org/0000-0001-5889-4463 A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. 2014-05-25T10:54:52Z UMLS:C4021067 UMLS:C4022927 Extra cranial suture Supernumary cranial suture Accessory fontanelle Extra fontanelle Supernumary fontanelle human_phenotype HP:0012800 The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. Accessory cranial suture HP:0012800 A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. PMID:20496093 https://orcid.org/0000-0002-0736-9199 Extra cranial suture https://orcid.org/0000-0001-5889-4463 Supernumary cranial suture https://orcid.org/0000-0001-5889-4463 Accessory fontanelle https://orcid.org/0000-0001-5889-4463 Extra fontanelle https://orcid.org/0000-0001-5889-4463 Supernumary fontanelle https://orcid.org/0000-0001-5889-4463 Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). 2014-05-25T02:37:13Z UMLS:C4021066 UMLS:C4280310 Narrow jaw Narrow lower face Narrow lower jaw Narrow mandible human_phenotype Thin lower face Thin lower jaw HP:0012801 The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. Narrow jaw HP:0012801 Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). PMID:19125436 https://orcid.org/0000-0002-0736-9199 Narrow jaw Narrow lower face Narrow lower jaw Thin lower face https://orcid.org/0000-0001-5889-4463 Thin lower jaw https://orcid.org/0000-0001-5889-4463 Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). 2014-05-25T02:41:43Z UMLS:C3281059 Broad jaw Broad lower face Broad mandible Wide jaw Wide mandible human_phenotype HP:0012802 The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. Broad jaw HP:0012802 Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). PMID:19125436 https://orcid.org/0000-0002-0736-9199 Broad jaw Broad lower face Wide jaw Inequality of refractive power of the two eyes. 2014-05-25T03:05:21Z SNOMEDCT_US:3289004 UMLS:C0003081 human_phenotype HP:0012803 Anisometropia HP:0012803 Inequality of refractive power of the two eyes. https://orcid.org/0000-0002-0736-9199 Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. 2014-05-25T03:25:51Z SNOMEDCT_US:91514001 UMLS:C0010043 Corneal ulcer Corneal ulcerations human_phenotype HP:0012804 Corneal ulceration HP:0012804 Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. https://orcid.org/0000-0002-0736-9199 Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. 2014-05-25T03:43:06Z UMLS:C1096099 human_phenotype HP:0012805 Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. Iris transillumination defect HP:0012805 Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. PMID:19920562 https://orcid.org/0000-0002-0736-9199 A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. 2014-05-25T05:46:42Z UMLS:C0687082 human_phenotype HP:0012806 A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. Proboscis HP:0012806 A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Insertion of the posterior columella superior to the nasal base. 2014-05-25T05:51:17Z Ala lower than columella UMLS:C4020909 Columella, high insertion human_phenotype HP:0012807 This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. High insertion of columella HP:0012807 Insertion of the posterior columella superior to the nasal base. PMID:19152422 Ala lower than columella https://orcid.org/0000-0001-5889-4463 An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. 2014-05-25T05:56:47Z UMLS:C4022718 Abnormal nasal base Abnormality of base of nose Anomaly of base of nose Anomaly of nasal base Deformity of base of nose Deformity of nasal base Malformation of base of nose Malformation of nasal base human_phenotype HP:0012808 Abnormal nasal base norphology HP:0012808 An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Abnormal nasal base Abnormality of base of nose https://orcid.org/0000-0001-5889-4463 Anomaly of base of nose https://orcid.org/0000-0001-5889-4463 Anomaly of nasal base https://orcid.org/0000-0001-5889-4463 Deformity of base of nose https://orcid.org/0000-0001-5889-4463 Deformity of nasal base https://orcid.org/0000-0001-5889-4463 Malformation of base of nose https://orcid.org/0000-0001-5889-4463 Malformation of nasal base https://orcid.org/0000-0001-5889-4463 Decreased distance between the attachments of the alae nasi to the face. 2014-05-25T05:58:16Z UMLS:C4022717 Decreased width of base of nose Decreased width of nasal base Narrow base of nose Narrow nasal base Thin base of nose Thin nasal base human_phenotype HP:0012809 There is a marked difference in width of the nasal base depending on ethnic background. Narrow nasal base HP:0012809 Decreased distance between the attachments of the alae nasi to the face. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Decreased width of base of nose https://orcid.org/0000-0001-5889-4463 Decreased width of nasal base https://orcid.org/0000-0001-5889-4463 Narrow base of nose https://orcid.org/0000-0001-5889-4463 Narrow nasal base Thin base of nose https://orcid.org/0000-0001-5889-4463 Thin nasal base https://orcid.org/0000-0001-5889-4463 Increased distance between the attachments of the alae nasi to the face. 2014-05-25T05:59:12Z UMLS:C1849667 Broad base of nose Broad nasal base Increased width of base of nose Increased width of nasal base Wide base of nose Wide nasal base human_phenotype HP:0012810 There is a marked difference in width of the nasal base depending on ethnic background. Wide nasal base HP:0012810 Increased distance between the attachments of the alae nasi to the face. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Broad base of nose https://orcid.org/0000-0001-5889-4463 Broad nasal base Increased width of base of nose https://orcid.org/0000-0001-5889-4463 Increased width of nasal base https://orcid.org/0000-0001-5889-4463 Wide base of nose https://orcid.org/0000-0001-5889-4463 Wide nasal base Increased width of the nasal ridge. 2014-05-25T10:38:03Z UMLS:C4020718 Broad dorsum of nose Broad nasal dorsum Increased width of dorsum of nose Increased width of nasal dorsum Increased width of nasal ridge Nasal ridge, wide Wide dorsum of nose Wide nasal dorsum Wide nasal ridge human_phenotype Broad nasal ridge HP:0012811 This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. Wide nasal ridge HP:0012811 Increased width of the nasal ridge. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Broad dorsum of nose https://orcid.org/0000-0001-5889-4463 Broad nasal dorsum https://orcid.org/0000-0001-5889-4463 Increased width of dorsum of nose https://orcid.org/0000-0001-5889-4463 Increased width of nasal dorsum https://orcid.org/0000-0001-5889-4463 Increased width of nasal ridge https://orcid.org/0000-0001-5889-4463 Wide dorsum of nose https://orcid.org/0000-0001-5889-4463 Wide nasal dorsum https://orcid.org/0000-0001-5889-4463 Wide nasal ridge Broad nasal ridge Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. 2014-05-25T10:40:06Z UMLS:C4021065 UMLS:C4280308 UMLS:C4280309 Fullness of tissue around the nose Laterally built up nose Paranasal fullness Thick paranasal tissue Thick tissue around the nose Hyperplasia of paranasal tissue Hypertrophy of paranasal tissue human_phenotype HP:0012812 This feature is distinct from Wide nasal ridge and Wide nasal bridge. Fullness of paranasal tissue HP:0012812 Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues. PMID:19152422 https://orcid.org/0000-0002-0736-9199 Fullness of tissue around the nose https://orcid.org/0000-0001-5889-4463 Thick paranasal tissue https://orcid.org/0000-0001-5889-4463 Thick tissue around the nose https://orcid.org/0000-0001-5889-4463 Hyperplasia of paranasal tissue https://orcid.org/0000-0001-5889-4463 Hypertrophy of paranasal tissue https://orcid.org/0000-0001-5889-4463 Underdevelopment of the breast on one side only. 2014-05-26T08:11:58Z UMLS:C1844722 One underdeveloped breast human_phenotype HP:0012813 Unilateral breast hypoplasia HP:0012813 Underdevelopment of the breast on one side only. https://orcid.org/0000-0002-0736-9199 One underdeveloped breast https://orcid.org/0000-0001-6908-9849 Underdevelopment of the breast on both sides. 2014-05-26T08:12:34Z UMLS:C4022716 Two underdeveloped breasts human_phenotype HP:0012814 Bilateral breast hypoplasia HP:0012814 Underdevelopment of the breast on both sides. https://orcid.org/0000-0002-0736-9199 Two underdeveloped breasts https://orcid.org/0000-0001-6908-9849 Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). 2014-05-27T08:14:55Z UMLS:C4022715 Underdeveloped female external genitalia human_phenotype HP:0012815 Hypoplastic female external genitalia HP:0012815 Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). https://orcid.org/0000-0002-0736-9199 Underdeveloped female external genitalia https://orcid.org/0000-0001-6908-9849 A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. 2014-05-28T08:35:01Z UMLS:C4022714 human_phenotype HP:0012816 Right ventricular noncompaction cardiomyopathy HP:0012816 A predominantly right ventricular variant of isolated noncompaction cardiomyopathy. PMID:23921774 https://orcid.org/0000-0002-0736-9199 A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. 2014-05-28T08:37:34Z UMLS:C1839832 Noncompaction of the ventricular myocardium Spongiform cardiomyopathy human_phenotype HP:0012817 Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [PMID:15210614]. Noncompaction cardiomyopathy HP:0012817 A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. PMID:15210614 PMID:24282766 https://orcid.org/0000-0002-0736-9199 Noncompaction cardiomyopathy that affects both ventricles. 2014-05-28T08:49:23Z UMLS:C4022713 human_phenotype HP:0012818 Biventricular noncompaction cardiomyopathy HP:0012818 Noncompaction cardiomyopathy that affects both ventricles. https://orcid.org/0000-0002-0736-9199 Inflammation of the myocardium. 2014-05-28T09:01:32Z SNOMEDCT_US:50920009 UMLS:C0027059 Inflammation of heart muscle human_phenotype HP:0012819 Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, and adenovirus and parvovirus B19 are often associated with acute myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. Myocarditis HP:0012819 Inflammation of the myocardium. PMID:21304213 PMID:22185868 PMID:22361396 https://orcid.org/0000-0002-0736-9199 Inflammation of heart muscle https://orcid.org/0000-0002-6548-5200 A loss of the ability to move the vocal fold on both sides. 2014-05-28T09:22:32Z UMLS:C2146481 human_phenotype HP:0012820 Bilateral vocal cord paralysis HP:0012820 A loss of the ability to move the vocal fold on both sides. https://orcid.org/0000-0002-0736-9199 Decreased strength of the vocal fold on one side. 2014-05-28T09:25:11Z UMLS:C0751577 human_phenotype HP:0012821 Unilateral vocal cord paresis HP:0012821 Decreased strength of the vocal fold on one side. https://orcid.org/0000-0002-0736-9199 Decreased strength of the vocal fold on both sides. 2014-05-28T09:25:43Z UMLS:C0751574 human_phenotype HP:0012822 Bilateral vocal cord paresis HP:0012822 Decreased strength of the vocal fold on both sides. https://orcid.org/0000-0002-0736-9199 This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. 2014-06-06T06:34:24Z HP:0000004 UMLS:C4021064 Phenotypic modifier human_phenotype HP:0012823 Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. Clinical modifier HP:0012823 This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. https://orcid.org/0000-0002-0736-9199 The intensity or degree of a manifestation. 2014-06-06T06:39:22Z SNOMEDCT_US:103370009 UMLS:C0522510 Intensity human_phenotype HP:0012824 Synonymous with PATO:0000049, intensity. Severity HP:0012824 The intensity or degree of a manifestation. https://orcid.org/0000-0002-0736-9199 Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. 2014-06-06T06:41:33Z SNOMEDCT_US:446411000124101 UMLS:C1513302 Mild human_phenotype HP:0012825 PATO:0000394, mild. Mild HP:0012825 Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. https://orcid.org/0000-0002-0736-9199 Mild Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. 2014-06-06T06:48:12Z SNOMEDCT_US:446421000124109 SNOMEDCT_US:6736007 UMLS:C0205081 human_phenotype HP:0012826 PATO:0000395, moderate. Moderate HP:0012826 Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. https://orcid.org/0000-0002-0736-9199 Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. 2014-06-06T06:52:16Z UMLS:C0205189 Borderline human_phenotype HP:0012827 PATO:0000394, mild. Borderline HP:0012827 Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean. https://orcid.org/0000-0002-0736-9199 Borderline Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. 2014-06-06T07:03:17Z SNOMEDCT_US:24484000 UMLS:C0205082 Severe human_phenotype HP:0012828 PATO:0000396, severe. Severe HP:0012828 Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. https://orcid.org/0000-0002-0736-9199 Severe Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. 2014-06-06T07:05:46Z SNOMEDCT_US:795002 UMLS:C0439808 Profound human_phenotype HP:0012829 Profound HP:0012829 Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean. https://orcid.org/0000-0002-0736-9199 Profound The anatomical localization of the specified phenotypic abnormality. 2014-06-06T07:18:35Z UMLS:C4019252 human_phenotype HP:0012830 Position HP:0012830 The anatomical localization of the specified phenotypic abnormality. https://orcid.org/0000-0002-0736-9199 The localization with respect to the side of the body of the specified phenotypic abnormality. 2014-06-06T07:19:19Z SNOMEDCT_US:272741003 UMLS:C0332304 human_phenotype HP:0012831 Laterality HP:0012831 The localization with respect to the side of the body of the specified phenotypic abnormality. https://orcid.org/0000-0002-0736-9199 Being present on both sides of the body. 2014-06-06T07:20:42Z SNOMEDCT_US:51440002 UMLS:C0238767 human_phenotype HP:0012832 Bilateral HP:0012832 Being present on both sides of the body. https://orcid.org/0000-0002-0736-9199 Being present on only the left or only the right side of the body. 2014-06-06T07:21:12Z SNOMEDCT_US:66459002 UMLS:C0205092 human_phenotype HP:0012833 Unilateral HP:0012833 Being present on only the left or only the right side of the body. https://orcid.org/0000-0002-0736-9199 Being located on the right side of the body. 2014-06-06T07:21:46Z SNOMEDCT_US:264180000 UMLS:C0444532 Right-sided human_phenotype HP:0012834 Right HP:0012834 Being located on the right side of the body. https://orcid.org/0000-0002-0736-9199 Being located on the left side of the body. 2014-06-06T07:23:17Z SNOMEDCT_US:263795004 UMLS:C0443246 Left-sided human_phenotype HP:0012835 Left HP:0012835 Being located on the left side of the body. https://orcid.org/0000-0002-0736-9199 The pattern by which a phenotype affects one or more regions of the body. 2014-06-06T07:25:02Z UMLS:C4022711 human_phenotype HP:0012836 Spatial pattern HP:0012836 The pattern by which a phenotype affects one or more regions of the body. https://orcid.org/0000-0002-0736-9199 Affecting all regions without specificity of distribution. 2014-06-06T07:25:58Z SNOMEDCT_US:60132005 UMLS:C0205246 Generalised human_phenotype HP:0012837 PATO:0002403. Generalized HP:0012837 Affecting all regions without specificity of distribution. https://orcid.org/0000-0002-0736-9199 Generalised Being confined or restricted to a particular location. 2014-06-06T07:27:48Z SNOMEDCT_US:255471002 UMLS:C0392752 Localised Localized human_phenotype HP:0012838 PATO:0000627. Localized HP:0012838 Being confined or restricted to a particular location. https://orcid.org/0000-0002-0736-9199 Localised Localized Localized away from the central point of the body. 2014-06-06T07:29:38Z SNOMEDCT_US:46053002 UMLS:C0205108 Outermost human_phenotype HP:0012839 Distal HP:0012839 Localized away from the central point of the body. https://orcid.org/0000-0002-0736-9199 Outermost https://orcid.org/0000-0001-6908-9849 Localized close to the central point of the body. 2014-06-06T07:30:42Z SNOMEDCT_US:40415009 UMLS:C0205107 human_phenotype HP:0012840 Proximal HP:0012840 Localized close to the central point of the body. https://orcid.org/0000-0002-0736-9199 An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. 2014-06-06T07:53:56Z UMLS:C1860475 Tortuous retinal vessels human_phenotype HP:0012841 Retinal vascular tortuosity HP:0012841 An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. https://orcid.org/0000-0002-0736-9199 A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. 2014-06-06T08:02:51Z NCIT:C3262 SNOMEDCT_US:126489007 SNOMEDCT_US:55681005 UMLS:C0345988 Skin adnexal neoplasm Skin adnexal tumor Skin adnexal tumour human_phenotype HP:0012842 Skin appendage neoplasm HP:0012842 A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. NCIT:C4463 Skin adnexal tumour An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. 2014-06-06T08:03:49Z NCIT:C3262 SNOMEDCT_US:44155009 UMLS:C0859920 human_phenotype HP:0012843 Hair follicle neoplasm HP:0012843 An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth. NCIT:C7367 https://orcid.org/0000-0002-0736-9199 A benign tumor originating from the outer root sheath of the hair follicle. 2014-06-06T08:05:05Z SNOMEDCT_US:274900003 SNOMEDCT_US:46199002 UMLS:C0334263 Tricholemmoma human_phenotype HP:0012844 Trichilemmoma HP:0012844 A benign tumor originating from the outer root sheath of the hair follicle. HPO_CONTRIBUTOR:UToronto_htrang Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle. 2014-06-06T08:06:37Z UMLS:C4022710 human_phenotype HP:0012845 Single trichilemmoma HP:0012845 Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle. https://orcid.org/0000-0002-0736-9199 Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle. 2014-06-06T08:07:30Z UMLS:C4021063 Multiple trichilemmomas human_phenotype HP:0012846 Multiple trichilemmomata HP:0012846 Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle. https://orcid.org/0000-0002-0736-9199 Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). 2014-06-06T08:09:22Z SNOMEDCT_US:241006 UMLS:C0085543 Epilepsia partialis continua of Kojevnikov Kojevnikov's epilepsia Kozhevnikov's epilepsia human_phenotype HP:0012847 The focal motor features may exhibit a Jacksonian march and a post-ictal (Todd's) paresis may be seen in the affected body part. Epilepsia partialis continua HP:0012847 Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). HPO_CONTRIBUTOR:UToronto_htrang PMID:26336950 https://orcid.org/0000-0002-1735-8178 The narrowing or partial blockage of a portion of the small intestine. 2014-06-07T09:00:19Z UMLS:C0151924 Narrowing of small intestine human_phenotype HP:0012848 Small intestinal stenosis HP:0012848 The narrowing or partial blockage of a portion of the small intestine. https://orcid.org/0000-0002-0736-9199 Narrowing of small intestine https://orcid.org/0000-0001-5208-3432 Bleeding from the small intestine. 2014-06-07T09:12:22Z SNOMEDCT_US:70375006 UMLS:C0520561 Small intestinal bleeding Small intestinal haemorrhage Small intestinal hemorrhage human_phenotype HP:0012849 Small intestinal bleeding HP:0012849 Bleeding from the small intestine. https://orcid.org/0000-0002-0736-9199 Small intestinal bleeding Small intestinal haemorrhage Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. 2014-06-07T09:15:02Z SNOMEDCT_US:253768006 UMLS:C0345200 human_phenotype HP:0012850 Small intestinal dysmotility HP:0012850 Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. https://orcid.org/0000-0002-0736-9199 A narrowing of a segment of colon whereby bowel continuity is maintained. 2014-06-07T09:22:41Z SNOMEDCT_US:19132000 SNOMEDCT_US:8543007 UMLS:C0267466 Narrowing of the colon Stenosis of the colon human_phenotype HP:0012851 Colonic stenosis HP:0012851 A narrowing of a segment of colon whereby bowel continuity is maintained. https://orcid.org/0000-0002-0736-9199 Narrowing of the colon https://orcid.org/0000-0001-5208-3432 Hepatic fibrosis that reaches from a portal area to another portal area. 2014-06-07T09:27:43Z UMLS:C4022709 human_phenotype HP:0012852 Hepatic bridging fibrosis HP:0012852 Hepatic fibrosis that reaches from a portal area to another portal area. PMID:14568255 https://orcid.org/0000-0002-0736-9199 Hypospadias with location of the urethral meatus in the scrotum. 2014-06-08T10:56:11Z SNOMEDCT_US:702462000 UMLS:C2197691 human_phenotype HP:0012853 Scrotal hypospadias HP:0012853 Hypospadias with location of the urethral meatus in the scrotum. https://orcid.org/0000-0002-0736-9199 Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. 2014-06-08T10:57:24Z UMLS:C4022708 human_phenotype HP:0012854 Midshaft hypospadias HP:0012854 Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. PMID:12371222 https://orcid.org/0000-0002-0736-9199 Increased pigmentation (skin color) of the scrotum. 2014-06-08T11:03:38Z UMLS:C4021062 Hyperpigmentation of the scrotum Hyperpigmented scrotum Increased pigmentation in scrotum human_phenotype HP:0012855 This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. Scrotal hyperpigmentation HP:0012855 Increased pigmentation (skin color) of the scrotum. https://orcid.org/0000-0002-0736-9199 Increased pigmentation in scrotum https://orcid.org/0000-0001-5208-3432 Anomaly of the folded ridges (wrinkles) of skin of the scrotum. 2014-06-08T11:10:00Z UMLS:C4022707 human_phenotype HP:0012856 Abnormal scrotal rugation HP:0012856 Anomaly of the folded ridges (wrinkles) of skin of the scrotum. https://orcid.org/0000-0002-0736-9199 Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. 2014-06-08T11:12:46Z UMLS:C4022706 human_phenotype HP:0012857 Increased scrotal rugation HP:0012857 Increased number or density of the folded ridges (wrinkles) of skin of the scrotum. https://orcid.org/0000-0002-0736-9199 Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. 2014-06-08T11:14:00Z UMLS:C4022705 human_phenotype HP:0012858 Decreased scrotal rugation HP:0012858 Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum. https://orcid.org/0000-0002-0736-9199 A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. 2014-06-08T11:16:53Z SNOMEDCT_US:89057003 UMLS:C0267095 human_phenotype Esophageal epidermoid metaplasia HP:0012859 Esophageal leukoplakia HP:0012859 A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease. HPO_CONTRIBUTOR:UToronto_htrang PMID:23765246 Formation of excess connective tissue in the testicle. 2014-06-09T09:29:22Z UMLS:C4021061 Fibrotic testes Fibrotic testicle human_phenotype HP:0012860 Testicular fibrosis HP:0012860 Formation of excess connective tissue in the testicle. https://orcid.org/0000-0002-0736-9199 A gonad that contains both ovarian follicles and testicular tubular elements. 2014-06-09T09:48:37Z SNOMEDCT_US:18978002 UMLS:C0266361 human_phenotype HP:0012861 An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. Ovotestis HP:0012861 A gonad that contains both ovarian follicles and testicular tubular elements. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of a reproductive cell. 2014-06-09T10:01:49Z UMLS:C4022704 Abnormal shape of a reproductive cell Abnormally shaped germ cell Abnormally shaped reproductive cell human_phenotype HP:0012862 Abnormal germ cell morphology HP:0012862 Any structural anomaly of a reproductive cell. https://orcid.org/0000-0002-0736-9199 Abnormally shaped reproductive cell https://orcid.org/0000-0001-5208-3432 A structural anomaly of a male reproductive cell. 2014-06-09T10:05:33Z UMLS:C4022703 human_phenotype HP:0012863 Abnormal male germ cell morphology HP:0012863 A structural anomaly of a male reproductive cell. https://orcid.org/0000-0002-0736-9199 A structural anomaly of sperm. 2014-06-09T10:07:03Z SNOMEDCT_US:236817003 UMLS:C0403824 Abnormal shape of sperm Teratospermia Teratozoospermia human_phenotype HP:0012864 Abnormal sperm morphology HP:0012864 A structural anomaly of sperm. https://orcid.org/0000-0002-0736-9199 Abnormal shape of sperm https://orcid.org/0000-0001-5208-3432 A structural abnormality of the sperm head. 2014-06-09T10:48:21Z UMLS:C4022702 Sperm head anomaly human_phenotype HP:0012865 Abnormal sperm head morphology HP:0012865 A structural abnormality of the sperm head. PMID:22198630 https://orcid.org/0000-0002-0736-9199 A structural abnormality of the sperm neck. 2014-06-09T10:50:20Z UMLS:C4022701 Sperm neck anomaly human_phenotype HP:0012866 The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. Abnormal sperm neck morphology HP:0012866 A structural abnormality of the sperm neck. PMID:22198630 https://orcid.org/0000-0002-0736-9199 A structural abnormality of the sperm mid-piece. 2014-06-09T10:50:37Z UMLS:C4022700 Sperm mid-piece anomaly human_phenotype HP:0012867 Abnormal sperm mid-piece morphology HP:0012867 A structural abnormality of the sperm mid-piece. https://orcid.org/0000-0002-0736-9199 A structural abnormality of the sperm tail. 2014-06-09T10:50:50Z UMLS:C4022699 Sperm tail anomaly human_phenotype HP:0012868 The ultrastructure of the mammalian flagellum is highly conserved and is structurally divided into four major parts: the connecting piece, the mid piece, the principal piece, and the end piece. The axoneme extends from the remnant of the centriole attached to the implantation fossa of the nucleus and is the core structure along the length of the sperm tail. Defective sperm flagella are the principal cause of sperm motility disorders. Abnormal sperm tail morphology HP:0012868 A structural abnormality of the sperm tail. PMID:22198630 https://orcid.org/0000-0002-0736-9199 Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. 2014-06-09T10:57:11Z UMLS:C4022698 human_phenotype HP:0012869 Acephalic spermatozoa HP:0012869 Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. PMID:10402395 https://orcid.org/0000-0002-0736-9199 A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. 2014-06-09T11:00:13Z SNOMEDCT_US:53599007 UMLS:C0266427 Vanishing testis human_phenotype Testicular regression syndrome HP:0012870 Vanishing testis HP:0012870 A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. PMID:22985611 https://orcid.org/0000-0002-0736-9199 Vanishing testis A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. 2014-06-09T11:07:41Z SNOMEDCT_US:46871008 SNOMEDCT_US:51070004 UMLS:C0042341 Vaginal varicocele human_phenotype HP:0012871 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. Varicocele HP:0012871 A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. 2014-06-09T11:13:37Z UMLS:C4022697 human_phenotype HP:0012872 Abnormal vas deferens morphology HP:0012872 A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct. MP:0002769 https://orcid.org/0000-0002-0736-9199 Aplasia (congenital absence) of the vas deferens. 2014-06-09T11:14:47Z SNOMEDCT_US:300506000 SNOMEDCT_US:5286009 SNOMEDCT_US:702610009 UMLS:C0266444 Absent deferent duct Absent ductus deferens Congenital absence of the vas deferens human_phenotype HP:0012873 Absent vas deferens HP:0012873 Aplasia (congenital absence) of the vas deferens. https://orcid.org/0000-0002-0736-9199 Absent deferent duct https://orcid.org/0000-0001-6908-9849 Absent ductus deferens https://orcid.org/0000-0001-6908-9849 An abnormal functionality of the male genital system. 2014-06-09T11:20:46Z UMLS:C4020716 human_phenotype Abnormal male genital system physiology HP:0012874 Abnormal male reproductive system physiology HP:0012874 An abnormal functionality of the male genital system. https://orcid.org/0000-0002-0736-9199 Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. 2014-06-09T11:21:29Z SNOMEDCT_US:386674000 UMLS:C2937350 human_phenotype HP:0012875 Abnormal ejaculation HP:0012875 Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract. https://orcid.org/0000-0002-0736-9199 The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. 2014-06-09T11:24:37Z SNOMEDCT_US:44001008 UMLS:C0033038 Premature ejaculation human_phenotype HP:0012876 Premature ejaculation HP:0012876 The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration. https://orcid.org/0000-0002-0736-9199 Premature ejaculation The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. 2014-06-09T11:25:24Z SNOMEDCT_US:50112006 UMLS:C0403673 human_phenotype HP:0012877 Retrograde ejaculation HP:0012877 The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. https://orcid.org/0000-0002-0736-9199 Difficulty of a male in achieving orgasm. 2014-06-09T11:29:28Z SNOMEDCT_US:15405008 UMLS:C0234047 Delayed ejaculation human_phenotype HP:0012878 Retarded ejaculation HP:0012878 Difficulty of a male in achieving orgasm. PMID:24528812 https://orcid.org/0000-0002-0736-9199 Delayed ejaculation Inability to ejaculate. 2014-06-09T11:33:16Z SNOMEDCT_US:248782001 SNOMEDCT_US:42288005 UMLS:C0278106 Ejaculatory incompetence human_phenotype HP:0012879 Anejaculation HP:0012879 Inability to ejaculate. PMID:24528812 https://orcid.org/0000-0002-0736-9199 An anomaly of the labia minora, the folds of skin between the outer labia. 2014-06-11T07:44:31Z UMLS:C4022696 Abnormality of the inner vaginal lips Abnormality of the labia minora human_phenotype HP:0012880 Abnormal labia minora morphology HP:0012880 An anomaly of the labia minora, the folds of skin between the outer labia. https://orcid.org/0000-0002-0736-9199 Abnormality of the inner vaginal lips An anomaly of the outer labia. 2014-06-11T07:46:41Z UMLS:C4022695 Abnormality of the labia majora Abnormality of vaginal lips human_phenotype HP:0012881 Abnormal labia majora morphology HP:0012881 An anomaly of the outer labia. https://orcid.org/0000-0002-0736-9199 Abnormality of vaginal lips https://orcid.org/0000-0001-5208-3432 Overgrowth of the outer labia. 2014-06-11T07:54:42Z UMLS:C4021060 Enlarged labia majora Hyperplasia of labia majora human_phenotype HP:0012882 Hyperplastic labia majora HP:0012882 Overgrowth of the outer labia. https://orcid.org/0000-0002-0736-9199 A fluid filled sac located in the Fallopian tube. 2014-06-11T08:00:04Z SNOMEDCT_US:59401005 UMLS:C0269173 human_phenotype HP:0012883 Fallopian tube cyst HP:0012883 A fluid filled sac located in the Fallopian tube. https://orcid.org/0000-0002-0736-9199 A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. 2014-06-11T08:01:57Z SNOMEDCT_US:46946009 UMLS:C0269169 Twisted fallopian tube human_phenotype HP:0012884 Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. Fallopian tube torsion HP:0012884 A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation. PMID:24251052 https://orcid.org/0000-0002-0736-9199 Twisted fallopian tube https://orcid.org/0000-0001-5208-3432 The presence of a supernumerary Fallopian tube. 2014-06-11T08:05:41Z SNOMEDCT_US:48672005 UMLS:C0266375 Accessory fallopian tube human_phenotype HP:0012885 Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. Fallopian tube duplication HP:0012885 The presence of a supernumerary Fallopian tube. PMID:23532389 https://orcid.org/0000-0002-0736-9199 An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. 2014-06-11T09:26:15Z SNOMEDCT_US:119420007 UMLS:C0473311 human_phenotype HP:0012886 The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. Hemorrhagic ovarian cyst HP:0012886 An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. PMID:12928726 https://orcid.org/0000-0002-0736-9199 A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. 2014-06-11T09:32:06Z SNOMEDCT_US:119421006 UMLS:C0346170 UMLS:C4020715 human_phenotype Serous ovarian cyst HP:0012887 Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. Ovarian serous cystadenoma HP:0012887 A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. PMID:23766763 https://orcid.org/0000-0002-0736-9199 An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. 2014-06-11T09:40:02Z UMLS:C4022694 Abnormality of the uterine cervix human_phenotype HP:0012888 Abnormal uterine cervix morphology HP:0012888 An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. https://orcid.org/0000-0002-0736-9199 Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. 2014-06-11T09:42:02Z SNOMEDCT_US:61640006 UMLS:C0269107 human_phenotype HP:0012889 Cervical endometriosis HP:0012889 Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix. https://orcid.org/0000-0002-0736-9199 Posterior malposition of the anus. 2014-06-23T10:55:41Z UMLS:C4022693 human_phenotype HP:0012890 Posteriorly placed anus HP:0012890 Posterior malposition of the anus. HPO_CONTRIBUTOR:UToronto_htrang Hair on the neck extends less inferiorly than usual. 2014-06-23T10:57:10Z UMLS:C4022692 High hairline at back of head human_phenotype HP:0012891 High posterior hairline HP:0012891 Hair on the neck extends less inferiorly than usual. HPO_CONTRIBUTOR:UToronto_htrang High hairline at back of head https://orcid.org/0000-0001-5889-4463 Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). 2014-06-23T10:58:42Z UMLS:C4022691 UMLS:C4280307 Increased size of facial muscles Large facial muscles human_phenotype Hyperplasia of facial muscles HP:0012892 Facial muscle hypertrophy HP:0012892 Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). HPO_CONTRIBUTOR:UToronto_htrang Increased size of facial muscles https://orcid.org/0000-0001-5889-4463 Large facial muscles https://orcid.org/0000-0001-5889-4463 Hyperplasia of facial muscles https://orcid.org/0000-0001-5889-4463 Muscle hypertrophy affecting the muscles of the neck. 2014-06-23T10:59:17Z Increased size of neck muscles UMLS:C4022690 UMLS:C4280306 Hypertrophy of cervical muscles Large neck muscles Overgrowth of neck muscles human_phenotype Hyperplasia of neck muscles HP:0012893 Neck muscle hypertrophy HP:0012893 Muscle hypertrophy affecting the muscles of the neck. HPO_CONTRIBUTOR:UToronto_htrang Increased size of neck muscles https://orcid.org/0000-0001-5889-4463 Hypertrophy of cervical muscles https://orcid.org/0000-0001-5889-4463 Large neck muscles https://orcid.org/0000-0001-5889-4463 Overgrowth of neck muscles https://orcid.org/0000-0001-5889-4463 Hyperplasia of neck muscles https://orcid.org/0000-0001-5889-4463 Muscle hypertrophy affecting the paraspinal muscles. 2014-06-23T10:59:48Z UMLS:C4022689 human_phenotype HP:0012894 Paraspinal muscle hypertrophy HP:0012894 Muscle hypertrophy affecting the paraspinal muscles. HPO_CONTRIBUTOR:UToronto_htrang Muscle hypertrophy affecting the scapular muscles. 2014-06-23T11:00:11Z UMLS:C4022688 human_phenotype HP:0012895 Scapular muscle hypertrophy HP:0012895 Muscle hypertrophy affecting the scapular muscles. HPO_CONTRIBUTOR:UToronto_htrang An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. 2014-06-23T11:04:24Z UMLS:C4022687 human_phenotype HP:0012896 Abnormal motor evoked potentials HP:0012896 An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. PMID:10402095 https://orcid.org/0000-0002-0736-9199 An anomaly identified by motor evoked potentials (MEPs) in the arm. 2014-06-23T11:08:22Z UMLS:C4021059 Abnormal motor evoked potentials in the upper limb human_phenotype HP:0012897 Abnormal upper-limb motor evoked potentials HP:0012897 An anomaly identified by motor evoked potentials (MEPs) in the arm. HPO_CONTRIBUTOR:UToronto_htrang An anomaly identified by motor evoked potentials (MEPs) in the leg. 2014-06-23T11:09:22Z UMLS:C4021058 Abnormal motor evoked potentials in the lower limb human_phenotype HP:0012898 Abnormal lower-limb motor evoked potentials HP:0012898 An anomaly identified by motor evoked potentials (MEPs) in the leg. HPO_CONTRIBUTOR:UToronto_htrang Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. 2014-06-23T11:10:53Z UMLS:C1868623 Grip myotonia human_phenotype HP:0012899 Handgrip myotonia HP:0012899 Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. HPO_CONTRIBUTOR:UToronto_htrang PMID:22987687 Slowed relaxation of muscles in the face. 2014-06-23T11:14:55Z UMLS:C4022686 human_phenotype HP:0012900 Myotonia of the face HP:0012900 Slowed relaxation of muscles in the face. HPO_CONTRIBUTOR:UToronto_htrang Slowed relaxation of muscles in the jaw. 2014-06-23T11:18:29Z UMLS:C4022685 human_phenotype HP:0012901 Myotonia of the jaw HP:0012901 Slowed relaxation of muscles in the jaw. HPO_CONTRIBUTOR:UToronto_htrang Slowed relaxation of muscles in the leg. 2014-06-23T11:18:59Z UMLS:C4022684 human_phenotype HP:0012902 Myotonia of the lower limb HP:0012902 Slowed relaxation of muscles in the leg. HPO_CONTRIBUTOR:UToronto_htrang Slowed relaxation of muscles in the arm. 2014-06-23T11:19:18Z UMLS:C4022683 human_phenotype HP:0012903 Myotonia of the upper limb HP:0012903 Slowed relaxation of muscles in the arm. HPO_CONTRIBUTOR:UToronto_htrang An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. 2014-06-23T11:20:32Z UMLS:C4022682 human_phenotype HP:0012904 Cold-sensitive myotonia HP:0012904 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. HPO_CONTRIBUTOR:UToronto_htrang PMID:14617673 Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. 2014-06-23T11:43:42Z SNOMEDCT_US:400954002 UMLS:C1303001 UMLS:C4280305 human_phenotype Kabuki syndrome eyelids HP:0012905 The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. Euryblepharon HP:0012905 Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. PMID:15249382 PMID:15530943 PMID:24719364 https://orcid.org/0000-0002-0736-9199 Kabuki syndrome eyelids https://orcid.org/0000-0001-5889-4463 Congenital anophthalmos is a rare ocular anomaly in which histologically detectable eyeball structures are absent due to poor development of the primary optic nerve vesicle. However, with appropriate imaging or intraoperatively, rudimentary remains of this structure can usually be detected. Therefore, the term clinical congenital anophthalmos seems more appropriate and denotes a phenotypic range between microphthalmos and anophthalmos. 2025-07-30T14:37:29Z human_phenotype HP:0020001 Clinical anophthalmos HP:0020001 Congenital anophthalmos is a rare ocular anomaly in which histologically detectable eyeball structures are absent due to poor development of the primary optic nerve vesicle. However, with appropriate imaging or intraoperatively, rudimentary remains of this structure can usually be detected. Therefore, the term clinical congenital anophthalmos seems more appropriate and denotes a phenotypic range between microphthalmos and anophthalmos. PMID:36670585 A pathological narrowing of the ileum that is caused by the development of a ring of scar tissue that constricts the ileal lumen. 2025-06-05T08:16:42Z human_phenotype HP:0020002 The differential diagnosis of ileal stricture includes tuberculosis, Crohn's disease, pelvic inflammation, ischemia, radiation enteritis, carcinoid infiltration, lymphoma, and diffuse enteropathy-that is, disorders where there is inflammation, infiltration, or edema of the small bowel Ileal stricture HP:0020002 A pathological narrowing of the ileum that is caused by the development of a ring of scar tissue that constricts the ileal lumen. PMID:12415093 PMID:31476299 PMID:34400338 A failure of an embryo to progress through the early stages of preimplantation development (typically from fertilization, i.e., 1-cell zygote, to blastocyst on day 5-6), and is used clinically when embryos fail to reach transferable stages in assisted reproductive technologies (ARTs) such in vitro fertilization (IVF). Arrested embryo development is characterized by downregulation of metabolic activity and cessation of cell division. In order for an embryo to be characterized as non-viable, i.e., arrested, it should present with a lack of cleaving activity and fail to show a sign of mitotic cellular division for at least 24 hours. One can observe failure of a zygote to cleave, cleavage stage arrest either on day 2 or day 3 when the embryo is expected to be between the 2 and 8-cell stage, failure to compact to morula, or failure to form a blastocyst. 2025-10-06T05:55:07Z human_phenotype HP:0020003 Embryo developmental arrest HP:0020003 A failure of an embryo to progress through the early stages of preimplantation development (typically from fertilization, i.e., 1-cell zygote, to blastocyst on day 5-6), and is used clinically when embryos fail to reach transferable stages in assisted reproductive technologies (ARTs) such in vitro fertilization (IVF). Arrested embryo development is characterized by downregulation of metabolic activity and cessation of cell division. In order for an embryo to be characterized as non-viable, i.e., arrested, it should present with a lack of cleaving activity and fail to show a sign of mitotic cellular division for at least 24 hours. One can observe failure of a zygote to cleave, cleavage stage arrest either on day 2 or day 3 when the embryo is expected to be between the 2 and 8-cell stage, failure to compact to morula, or failure to form a blastocyst. PMID:34361119 PMID:39607653 The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is outside the limits of normal. 2025-10-06T05:56:28Z human_phenotype HP:0020004 Abnormal CSF guanidinoacetic acid concentration HP:0020004 The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2025-10-06T05:57:33Z Low CSF guanidinoacetic acid concentration Reduced CSF GAA concentration human_phenotype HP:0020005 Decreased CSF guanidinoacetic acid concentration HP:0020005 The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal. PMID:28971744 A coloboma of the ciliary body. UMLS:C4072884 human_phenotype HP:0020006 Ciliary body coloboma HP:0020006 A disturbance in the processes by which emotional responses are initiated, modulated, sustained, or terminated in a contextually appropriate manner. Abnormal affect regulation involves maladaptive patterns in the generation, intensity, or control of affective experience and expression, leading to inconsistent, excessive, or insufficient modulation of emotion relative to situational demands. 2025-10-17T15:13:18Z human_phenotype HP:0020007 This category encompasses enduring tendencies or dynamic features that influence emotional reactivity and control - such as emotional hypersensitivity, emotional lability, emotional insecurity, and low frustration tolerance. These features represent alterations in the mechanisms governing affective modulation rather than discrete affective states themselves. Abnormal affect regulation HP:0020007 A disturbance in the processes by which emotional responses are initiated, modulated, sustained, or terminated in a contextually appropriate manner. Abnormal affect regulation involves maladaptive patterns in the generation, intensity, or control of affective experience and expression, leading to inconsistent, excessive, or insufficient modulation of emotion relative to situational demands. PMID:23216067 PMID:37925091 The initial manifestation of a disease or symptom occurring during the winter season. 2025-10-26T07:12:46Z human_phenotype HP:0020008 History of disease onset in winter HP:0020008 The initial manifestation of a disease or symptom occurring during the summer season. 2025-10-26T07:14:55Z human_phenotype HP:0020009 History of disease onset in summer HP:0020009 A description of structural or physical characteristics of a skin lesion, describing how the lesion appears or is composed. 2025-10-26T07:25:36Z human_phenotype HP:0020010 Cutaneous lesion morphology HP:0020010 Presence of bleeding within (pre-existing) cutaneous lesions such as blisters or vesicles, resulting in blood-filled lesions. 2025-10-26T07:27:44Z Hemorrhagic nature to skin lesions human_phenotype HP:0020011 Bleeding into skin lesions HP:0020011 Lesions covered by a hardened layer of dried exudate, blood, or serum. 2025-10-26T07:28:47Z human_phenotype HP:0020012 Crusted skin lesions HP:0020012 Slough is a type of necrotic skin lesion that is characterized as being yellow, tan, green or brown in color and may be moist, loose and stringy in appearance. 2025-10-26T07:34:38Z human_phenotype HP:0020013 Slough HP:0020013 Slough is a type of necrotic skin lesion that is characterized as being yellow, tan, green or brown in color and may be moist, loose and stringy in appearance. PMID:16455730 Abnormal tingling, burning, or itching sensation localized to the site of an animal bite, typically occurring after the wound has healed. 2025-10-26T07:52:33Z human_phenotype HP:0020014 This phenomenon may represent an early neuropathic involvement in rabies infection and is distinct from immediate wound pain or inflammatory itch. Local paresthesia at bite site HP:0020014 Abnormal tingling, burning, or itching sensation localized to the site of an animal bite, typically occurring after the wound has healed. PMID:15043965 PMID:29188797 Amyloid deposition categorized according to the anatomical site of deposition. 2025-10-26T08:27:41Z human_phenotype HP:0020015 Amyloid deposition by anatomical site HP:0020015 Amyloid deposition categorized according to the category of pathological amyloid fiber being deposited. 2025-10-26T08:28:51Z human_phenotype HP:0020016 Amyloid deposition by type of amyloid HP:0020016 Deposition of misfolded transthyretin (TTR) protein in tissue. 2025-10-26T08:29:38Z human_phenotype HP:0020017 Transthyretin (previously known as prealbumin) is a normal circulating protein that functions as a carrier protein for retinol (vitamin A) and thyroxine. Usually, it circulates in a tetrameric form composed of 4 beta-sheet-rich monomers. However, structural changes in the TTR protein can cause it to misfold and lose the tetrameric form, causing it to aggregate and deposit in various tissues. Transthyretin amyloid deposition HP:0020017 Deposition of misfolded transthyretin (TTR) protein in tissue. PMID:34662045 Accumulation of misfolded transthyretin protein in brain tissue. 2025-10-26T08:40:29Z human_phenotype HP:0020018 Leptomeninges and subarachnoid vessels affected earlier, followed by perforating cortical vessels and subpial deposition, and finally subependymal deposition and involvement of basal ganglia vessels near the ependymal lining. Interestingly, brainstem and spinal cord show early severe involvement, with amyloid subpial deposition already seen in the initial stages. Despite massive CNS amyloid deposition, no parenchymal deposition is found in the cortex or white matter. Cerebral transthyretin amyloid deposition HP:0020018 Accumulation of misfolded transthyretin protein in brain tissue. PMID:36198883 The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above or below the limits of normal. 2025-10-26T08:48:59Z human_phenotype HP:0020019 Abnormal CSF 5-hydroxyindoleacetic acid concentration HP:0020019 The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2025-10-26T08:49:50Z human_phenotype HP:0020020 Decreased CSF 5-hydroxyindoleacetic acid concentration HP:0020020 A condition where the hip joint is limited in its range of motion due to the shortening of muscles that externally rotate the hip, causing the leg and foot to point outward when standing or walking. The knee is turned past neutral in the direction moving away from the midline, where the neutral position for the hip is with knee pointing directly anteriorly. 2025-10-26T09:00:33Z human_phenotype HP:0020021 Hip external rotation contracture HP:0020021 A condition where the hip joint is limited in its range of motion due to the shortening of muscles that externally rotate the hip, causing the leg and foot to point outward when standing or walking. The knee is turned past neutral in the direction moving away from the midline, where the neutral position for the hip is with knee pointing directly anteriorly. PMID:40176701 Abduction contracture of the hip is characterized by the limitation of active and/or passive adduction of the hip joint in the coronal plane; a chronic reduction in the ability to move the proximal segment of the lower extremity actively or passively medially towards the body midline past the sagittal plane of the body. 2025-10-26T09:16:33Z human_phenotype HP:0020022 Hip abduction contracture HP:0020022 Inability of hip to bring from medial side to neutral position, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes. 2025-10-26T09:17:20Z human_phenotype HP:0020023 Hip adduction contracture HP:0020023 Inability of hip to bring from medial side to neutral position, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes. PMID:40176701 Inability to flex the hip past the extension range from the neutral position, where the neutral position for the hip is with the hip and thigh segment in line in the same coronal plane as the pelvis. 2025-10-26T09:18:11Z human_phenotype HP:0020024 Hip extension contracture HP:0020024 Inability to flex the hip past the extension range from the neutral position, where the neutral position for the hip is with the hip and thigh segment in line in the same coronal plane as the pelvis. PMID:40176701 The inability to bring a flexed hip to neutral in the sagittal plane, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes. 2025-10-26T09:19:06Z human_phenotype HP:0020025 Hip flexion contracture HP:0020025 The inability to bring a flexed hip to neutral in the sagittal plane, where the neutral position for the hip is with the thigh segment in line with the anatomic plane of the pelvis, both in the coronal and sagittal planes. PMID:40176701 A positive (abnormal) result of the direct antiglobulin test (DAT; sometimes referred to as the Coombs test). The test is a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. The DAT tests for antibodies or complement bound directly to erythrocytes, indicating in vivo sensitization. 2025-10-26T09:34:29Z human_phenotype HP:0020026 Positive Coombs test HP:0020026 Demonstration of the presence of IgG antibodies bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. 2025-10-26T09:36:28Z IgG+ Coombs test human_phenotype HP:0020027 Direct antiglobulin test positive for IgG HP:0020027 Demonstration of the presence of IgM antibodies bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. 2025-10-26T09:37:04Z IgM+ Coombs test human_phenotype HP:0020028 Cold agglutinin disease is a form of autoimmune hemolytic anemia in which cold agglutinins (IgM autoantibodies against red blood cell [RBC] antigens that bind at cold temperatures) can cause clinical symptoms related to RBC agglutination in cooler parts of the body and hemolytic anemia. Direct antiglobulin test positive for IgM HP:0020028 Any structural abnormality affecting the white matter of the spinal cord, including sensory tracts (dorsal columns) and motor tracts (corticospinal tracts). Abnormalities may involve myelin, axons, or tract organization and can result in sensory, motor, or autonomic deficits. 2025-10-26T10:02:20Z human_phenotype HP:0020029 Abnormal spinal cord white matter morphology HP:0020029 Any structural abnormality affecting the lateral corticospinal tracts of the spinal cord, which may involve axonal loss, demyelination, or tract degeneration, and can result in motor deficits such as weakness, spasticity, or impaired voluntary movement. 2025-10-26T10:05:30Z human_phenotype HP:0020030 Abnormal spinal cord lateral corticospinal tract morphology HP:0020030 Demonstration of the presence of C3d complement fragments bound to red blood cell (RBC) membranes using anti-human globulin (Coombs reagent), which produces a visible agglutination reaction. 2025-10-26T10:09:12Z human_phenotype HP:0020031 Direct antiglobulin test positive for C3d HP:0020031 Abnormal hyperreflective dots (HRDs) detected in Optical coherence tomography (OCT) scans. The HRDs are scattered, punctiform, small in size, mainly located in the outer retinal layers and/or around pockets of fluid accumulation and are typically not confluent. 2025-10-26T10:13:35Z Hyperreflective retinal foci on OCT human_phenotype HP:0020032 Hyperreflective retinal dots on OCT HP:0020032 Abnormal hyperreflective dots (HRDs) detected in Optical coherence tomography (OCT) scans. The HRDs are scattered, punctiform, small in size, mainly located in the outer retinal layers and/or around pockets of fluid accumulation and are typically not confluent. PMID:25926902 Lack of uniformity in the morphology of the retinal pigment epithelium (RPE) layer observed on optical coherence tomography (OCT) imaging. The RPE lies between the neurosensory retina (photoreceptors) and Bruch membrane/choroid, and normally appears as a thin, hyperreflective (bright) band on OCT imaging. This term comprises irregularities which may manifest as thickening, thinning, undulations, or loss of normal reflectivity, potentially affecting retinal structure or function. 2025-10-26T10:37:00Z human_phenotype HP:0020033 Irregularity of the retinal pigment epithelium layer on OCT HP:0020033 Lack of uniformity in the morphology of the retinal pigment epithelium (RPE) layer observed on optical coherence tomography (OCT) imaging. The RPE lies between the neurosensory retina (photoreceptors) and Bruch membrane/choroid, and normally appears as a thin, hyperreflective (bright) band on OCT imaging. This term comprises irregularities which may manifest as thickening, thinning, undulations, or loss of normal reflectivity, potentially affecting retinal structure or function. PMID:19797228 A spatial pattern that is spread out, i.e., not localized. 2016-04-15T15:16:35Z SNOMEDCT_US:19648000 UMLS:C0205219 human_phenotype HP:0020034 Diffuse HP:0020034 A spatial pattern that is spread out, i.e., not localized. https://orcid.org/0000-0002-0736-9199 A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. 2017-10-13T12:24:09Z human_phenotype HP:0020035 Lower limb dysmetria HP:0020035 A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. PMID:25573808 https://orcid.org/0000-0002-2353-596X A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. 2017-10-13T12:28:26Z human_phenotype HP:0020036 Upper limb dysmetria HP:0020036 A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. PMID:20301629 https://orcid.org/0000-0002-2353-596X A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. 2017-10-13T12:38:30Z human_phenotype HP:0020037 Astasia HP:0020037 A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. PMID:27821973 https://orcid.org/0000-0002-2353-596X Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. 2017-10-13T12:54:00Z human_phenotype HP:0020038 The basilar artery arises from the confluence of the two vertebral arteries. Vertebrobasilar dolichoectasia HP:0020038 Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. PMID:24765483 Anteroposterior thickness of the retina above the upper limit of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT). 2025-10-26T11:10:04Z human_phenotype HP:0020039 Retinal thickening on OCT HP:0020039 Anteroposterior thickness of the retina outside the limits of normal. This phenotype can be appreciated by retinal optical coherence tomography (OCT). 2025-10-26T11:11:39Z human_phenotype HP:0020040 Abnormal anteroposterior retina thickness on OCT HP:0020040 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. 2017-12-20T17:09:14Z human_phenotype HP:0020041 Double elevator palsy HP:0020041 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia. PMID:23479532 https://orcid.org/0000-0003-0986-4123 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. 2017-12-20T17:12:54Z human_phenotype HP:0020042 Double depressor palsy HP:0020042 An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye. https://orcid.org/0000-0003-0986-4123 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. 2017-12-20T17:14:25Z human_phenotype HP:0020043 Vertical incomitant strabismus HP:0020043 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards. https://orcid.org/0000-0003-0986-4123 2017-12-20T17:14:39Z human_phenotype HP:0020044 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally. Horizontal incomitant strabismus HP:0020044 A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. 2017-12-20T17:20:06Z Convergent squint Convergent strabismus human_phenotype HP:0020045 Esodeviation HP:0020045 A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. https://orcid.org/0000-0003-0986-4123 A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. 2017-12-20T17:25:43Z human_phenotype HP:0020046 Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes. Accommodative esotropia HP:0020046 A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. https://orcid.org/0000-0003-0986-4123 Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. 2017-12-22T14:32:10Z human_phenotype HP:0020047 Abnormal myeloid cell morphology HP:0020047 A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19. 2017-12-22T14:57:04Z human_phenotype HP:0020048 Reduced bone-marrow pro-B cell count HP:0020048 A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. 2017-12-22T15:01:01Z Divergent strabismus human_phenotype HP:0020049 Exodeviation HP:0020049 A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. https://orcid.org/0000-0003-0986-4123 The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. 2017-12-22T15:05:06Z Anti-GM-CSF antibody positivity human_phenotype HP:0020050 Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism. Anti-granulocyte-macrophage colony stimulating factor antibody positivity HP:0020050 The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor. PMID:23509356 Anti-GM-CSF antibody positivity Any anomaly in the structure or density (count of tubules per volume) of the seminiferous tubules, i.e., the coiled structures within the testis that contain Sertoli cells, which support and nurture germ cells as they develop into mature spermatozoa. 2025-10-26T11:19:18Z human_phenotype HP:0020051 Abnormal seminiferous tubule morphology HP:0020051 A granuloma located within a lymph node that is associated with necrosis. Usually, the necrosis is surrounded by collections of histiocytes. A granuloma is a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus. It characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types. 2025-10-26T11:24:11Z human_phenotype HP:0020052 Necrotizing lymph node granuloma HP:0020052 Aberrant marker expression is a phenomenon of abnormal gain or loss of lineage specific or associated antigens. It involves changes in the presence, absence, quantity, or localization of molecular or immunohistochemical markers. 2025-10-26T11:35:13Z human_phenotype HP:0020053 In cancer pathology, abnormal marker expression is generally measured in tumor cells compared to normal cells of the same tissue type. Abnormal marker expression HP:0020053 Any functional abnormality of erythrocytes (red-blood cells). 2018-09-28T23:39:07Z human_phenotype HP:0020054 Abnormal erythrocyte physiology HP:0020054 Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutL homolog 1 (MLH1). 2025-10-26T11:39:15Z human_phenotype HP:0020055 This abnormality may be observed in a tumor of the Lynch syndrome spectrum (e.g., colorectal, endometrial, ovarian, stomach, small bowel, urinary tract, biliary tract, prostate, brain [usually glioblastoma], skin [sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas], and pancreas). Diminished MLH1 expression HP:0020055 Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 2 (MSH2). 2025-10-26T11:43:26Z human_phenotype HP:0020056 This abnormality may be observed in a tumor of the Lynch syndrome spectrum (e.g., colorectal, endometrial, ovarian, stomach, small bowel, urinary tract, biliary tract, prostate, brain [usually glioblastoma], skin [sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas], and pancreas). Diminished MSH2 expression HP:0020056 Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product mutS homolog 6 (MSH6). 2025-10-26T11:47:25Z human_phenotype HP:0020057 This abnormality may be observed in a tumor of the Lynch syndrome spectrum (e.g., colorectal, endometrial, ovarian, stomach, small bowel, urinary tract, biliary tract, prostate, brain [usually glioblastoma], skin [sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas], and pancreas). Diminished MSH6 expression HP:0020057 Any deviation from the normal number of red blood cells per volume in the circulation. 2018-09-28T23:44:47Z Abnormal RBC count human_phenotype HP:0020058 Abnormal red blood cell count HP:0020058 Abnormal RBC count An abnormal elevation above the normal number of red blood cells per volume in the circulation. 2018-09-28T23:45:36Z Increased RBC count human_phenotype HP:0020059 Increased red blood cell count HP:0020059 Increased RBC count An abnormal reduction below the normal number of red blood cells per volume in the circulation. 2018-09-28T23:46:01Z Decreased RBC count human_phenotype HP:0020060 Decreased red blood cell count HP:0020060 Decreased RBC count Any deviation from the normal concentration of hemoglobin in the blood. 2018-09-28T23:52:35Z Abnormal Hb concentration Abnormal haemoglobin concentration human_phenotype HP:0020061 Abnormal hemoglobin concentration HP:0020061 Abnormal Hb concentration Abnormal haemoglobin concentration An abnormal reduction below normal hemoglobin concentration in the circulation. 2018-09-28T23:53:11Z Decreased Hb concentration Decreased haemoglobin concentration human_phenotype HP:0020062 Decreased hemoglobin concentration HP:0020062 Decreased Hb concentration Decreased haemoglobin concentration HP:0001900 2018-09-28T23:53:24Z human_phenotype HP:0020063 obsolete Increased hemoglobin concentration true HP:0020063 Abnormal increase or decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. 2018-10-17T13:48:52Z human_phenotype HP:0020064 Abnormal total eosinophil count HP:0020064 Immunohistochemistry (IHC) demonstrating loss of expression of the mismatch repair gene product PMS1 homolog 2 (PMS2). 2025-10-26T11:49:31Z human_phenotype HP:0020065 This abnormality may be observed in a tumor of the Lynch syndrome spectrum (e.g., colorectal, endometrial, ovarian, stomach, small bowel, urinary tract, biliary tract, prostate, brain [usually glioblastoma], skin [sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas], and pancreas). Diminished PMS2 expression HP:0020065 2025-10-26T11:52:44Z human_phenotype HP:0020066 Pathological inclusion body categorized according to the affected subcellular organ. Pathological inclusion body by subcellular location HP:0020066 2025-10-26T11:52:58Z human_phenotype HP:0020067 Pathological inclusion body categorized according to the anatomical site of origin. Pathological inclusion body by anatomical location HP:0020067 Inclusion bodies (deposits of stainable material, usually misfolded proteins) localized in the nucleus. 2025-10-26T11:56:03Z human_phenotype HP:0020068 Intranuclear inclusion bodies HP:0020068 Applies to a lesion that is localized on the arm or leg. 2025-10-26T12:26:31Z Skin lesions on limbs human_phenotype HP:0020069 Appendicular location HP:0020069 A history of living in an environment characterized by excess moisture and heat, tropical conditions, or muggy weather. 2025-10-26T12:28:30Z human_phenotype HP:0020070 Exposure to humid conditions HP:0020070 The presence of virus in the blood. 2019-01-21T22:33:34Z human_phenotype HP:0020071 Viremia HP:0020071 Persistent or recurrent detection of Epstein-Barr virus (EBV) in the blood that occurs in the context of unusual susceptibility to infection. 2019-01-21T22:36:17Z Chronic EBV viremia Persistent EBV viraemia Recurrent EBV viremia human_phenotype HP:0020072 Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission. Persistent EBV viremia HP:0020072 A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. 2019-01-25T13:41:52Z human_phenotype HP:0020073 A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin. Hypopigmented macule HP:0020073 A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. PMID:24023426 The presence of crystals in the urine. 2019-02-25T13:07:52Z human_phenotype HP:0020074 Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir). Crystalluria HP:0020074 The presence of crystals in the urine. PMID:26509782 The presence of leucine crystals in the urine. 2019-02-25T13:13:14Z human_phenotype HP:0020075 Leucine crystals are oily-looking spheres with concentric striations, which form pseudo-Maltese crosses under polarized light. Leucine, like tyrosine, which appears as thin needles often aggregated inbundles or rosettes, is typical of patients with hepatic failure. Leucine crystalluria HP:0020075 The presence of leucine crystals in the urine. PMID:8671802 A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. 2019-02-25T13:18:34Z Ganglion cyst of the wrist human_phenotype HP:0020076 Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency. Wrist ganglion HP:0020076 A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule. PMID:17488856 PMID:19468907 An elevated level of carnitine in the urine. 2019-02-25T13:29:26Z Carnitine high in urine human_phenotype HP:0020077 Carnitinuria HP:0020077 An elevated level of carnitine in the urine. PMID:11196742 https://orcid.org/0000-0002-8169-9049 An increased level of alanine in the urine. 2019-02-25T13:31:43Z Increased urinary alanine human_phenotype HP:0020078 Alaninuria HP:0020078 An increased level of alanine in the urine. https://orcid.org/0000-0002-8169-9049 The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal. 2019-02-25T13:34:18Z HP:6000276 Beta-alanine high in urine Elevated urinary beta-alanine level Hyper-beta-alaninuria human_phenotype HP:0020079 Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position. Beta-alaninuria HP:0020079 The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal. PMID:7936305 Nuclear or cytoplasmic aggregates of substances in red blood cells. 2019-02-25T13:41:04Z human_phenotype HP:0020080 Erythrocyte inclusion bodies HP:0020080 A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). 2019-02-25T13:56:37Z human_phenotype HP:0020081 Pappenheimer bodies HP:0020081 A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). PMID:15054821 PMID:21250106 A type of erythrocyte inclusion composed of denatured hemoglobin. 2019-02-25T14:00:35Z human_phenotype HP:0020082 Heinz bodies HP:0020082 A type of erythrocyte inclusion composed of denatured hemoglobin. PMID:21250106 PMID:24713708 An infection of a hair follicle that extends subcutaneously, forming an abscess. 2019-04-08T16:59:51Z Boil human_phenotype HP:0020083 Furuncle HP:0020083 Boil A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle. 2019-04-08T17:02:42Z human_phenotype HP:0020084 Carbuncle HP:0020084 A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle. PMID:32119346 An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens. 2019-04-08T17:21:47Z human_phenotype HP:0020085 Infection following live vaccination HP:0020085 Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. 2019-04-08T17:25:28Z human_phenotype HP:0020086 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. BCGitis HP:0020086 Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. PMID:24722620 Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. 2019-04-08T17:27:13Z HP:0031698 BCGiosis Disseminated Bacillus Calmette-Guerin infection human_phenotype HP:0020087 The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis. BCGosis HP:0020087 Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. PMID:21412596 PMID:24722620 Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. 2019-04-08T17:31:45Z Vaccine associated measles human_phenotype HP:0020088 Post-vaccination measles HP:0020088 Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. PMID:29152266 Infection with the rubella virus of the live-attenuated vaccine. 2019-04-08T17:36:47Z human_phenotype HP:0020089 Post-vaccination rubella HP:0020089 Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise. 2019-04-08T17:38:52Z human_phenotype HP:0020090 Post-vaccination polio HP:0020090 Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise. PMID:25285130 Infection with live attenuated rotavirus vaccine following vaccination. 2019-04-08T17:42:33Z human_phenotype HP:0020091 Post-vaccination rotavirus infection HP:0020091 Infection with live attenuated rotavirus vaccine following vaccination. PMID:21477676 Any microscopic alteration in the cellular or tissue morphology of a biospecimen, identified through histologic examination, including changes in differentiation, organization, or cytologic features. 2025-10-26T12:32:25Z human_phenotype HP:0020092 Histopathological abnormality HP:0020092 Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ. 2019-04-08T17:44:58Z human_phenotype HP:0020093 Recurrent deep organ abscess formation HP:0020093 Metaplasia of an epithelium (normally a unilayer of cuboidal or columnar cells) with squamous epithelium (squamous means scale-like). Metaplastic squamous epithelium becomes stratified (i.e., has multiple layers). 2025-10-26T12:34:17Z human_phenotype HP:0020094 Metaplasia is the replacement of one differentiated somatic cell type with another differentiated somatic cell type in the same tissue. Typically, metaplasia is triggered by environmental stimuli, which may act in concert with the deleterious effects of microorganisms and inflammation. Squamous metaplasia HP:0020094 Metaplasia of an epithelium (normally a unilayer of cuboidal or columnar cells) with squamous epithelium (squamous means scale-like). Metaplastic squamous epithelium becomes stratified (i.e., has multiple layers). PMID:28860646 The requirement for prolonged antibiotic treatment beyond what would be expected for a given infection in a healthy individual of the same age, suggesting unusual susceptibility to infection or failure to respond to standard therapy. 2019-04-08T17:48:52Z human_phenotype HP:0020095 Prolonged need of intravenous antibiotic therapy HP:0020095 Increased susceptibility to streptococcal infections as manifested by recurrent episodes of streptococcal infections. 2019-04-08T17:59:21Z human_phenotype HP:0020096 Recurrent streptococcal infections HP:0020096 Increased susceptibility to infections with encapsulated bacteria, as manifested by recurrent or severe/invasive infection with encapsulated bacterial organisms such as Streptococcus pneumoniae, Haemophilus influenzae type b, or Neisseria meningitidis. 2019-04-08T18:54:35Z human_phenotype HP:0020097 Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes. Infection due to encapsulated bacteria HP:0020097 HP:0012302 2019-04-08T18:58:22Z human_phenotype HP:0020098 obsolete Herpes encephalitis true HP:0020098 An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. 2019-04-08T19:02:54Z Disseminated norovirus infection human_phenotype HP:0020099 Severe norovirus infection HP:0020099 An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals. PMID:25567225 An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent. 2019-04-08T19:05:28Z human_phenotype HP:0020100 Unusual fungal infection HP:0020100 Fungal infection characterized by invasion of host tissues. 2019-04-08T19:11:15Z human_phenotype HP:0020101 Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, hematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents. Invasive fungal infection HP:0020101 Fungal infection characterized by invasion of host tissues. PMID:24718393 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. 2019-04-08T19:15:19Z HP:0034286 Pneumocystis carinii pneumonia human_phenotype HP:0020102 Pneumocystis pneumonia (PCP) is caused by Pneumocystis jirovecii, a ubiquitous fungus. The taxonomy of the organism has been changed; Pneumocystis carinii now refers only to the Pneumocystis that infects rats, and P. jirovecii refers to the distinct species that infects humans. However, the abbreviation PCP is still the preferred acronym to designate the clinical syndrome of Pneumocystis pneumonia, although PJP is commonly used. Pneumocystis jirovecii pneumonia HP:0020102 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. PMID:26281787 Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. 2019-04-08T19:17:44Z human_phenotype HP:0020103 Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant. Invasive pulmonary aspergillosis HP:0020103 Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis. PMID:25656673 An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent. 2019-04-08T19:21:25Z human_phenotype HP:0020104 Unusual protozoan infection HP:0020104 Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). 2019-04-08T19:22:59Z Disseminated toxoplasmosis Invasive toxoplasmosis Severe toxoplasmosis human_phenotype HP:0020105 Severe Toxoplasma infection HP:0020105 Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). PMID:25762774 An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. 2019-04-08T19:25:29Z human_phenotype HP:0020106 Several reports of giardiasis in immunocompromised patients exist. Severe giardiasis HP:0020106 An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. PMID:11148005 PMID:17042927 An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). 2019-04-08T19:28:54Z human_phenotype HP:0020107 Unusual helminthic infection HP:0020107 An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth). PMID:18382743 An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. 2019-04-08T19:30:24Z human_phenotype HP:0020108 Unusual parasitic infection HP:0020108 An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite. PMID:16148530 Glomerular basement membrane duplication (GBM-DP) can be seen with Periodic acid-Schiff and silver stains. This appearance results from the presence of subendothelial deposits and the so-called mesangial interposition whereby mesangial cells, infiltrating mononuclear cells, or even portions of endothelial cells interpose themselves between the endothelium and basement membrane, with new, inner GBM-like material being laid down. This produces a double contour or tram-track appearance on light or electron microscopy. This finding often reflects splitting of the lamina densa and is associated with disease processes such as membranoproliferative glomerulonephritis, transplant glomerulopathy, and diabetic nephropathy. 2025-10-26T15:43:13Z Double contour of glomerular basement membrane GBM duplication GBM reduplication Tram-track appearance of GBM human_phenotype HP:0020109 Glomerular basement membrane duplication (GBM-DP) is often found in diabetic neprhopathy and is a pathological feature that suggests endothelial injury. See Figure 1 of PMID:30467801. Membranoproliferative glomerulonephritis (MPGN) is a pattern of pathological injury characterized by thickening of or double contour formation on the glomerular basement membrane (GBM) (membrano-) with mesangial and/or endocapillary proliferation (proliferative). When injury persists, new basement membranes can form underneath the damaged endothelium, leading to the characteristic tram track appearance by silver staining. Glomerular basement membrane duplication HP:0020109 Glomerular basement membrane duplication (GBM-DP) can be seen with Periodic acid-Schiff and silver stains. This appearance results from the presence of subendothelial deposits and the so-called mesangial interposition whereby mesangial cells, infiltrating mononuclear cells, or even portions of endothelial cells interpose themselves between the endothelium and basement membrane, with new, inner GBM-like material being laid down. This produces a double contour or tram-track appearance on light or electron microscopy. This finding often reflects splitting of the lamina densa and is associated with disease processes such as membranoproliferative glomerulonephritis, transplant glomerulopathy, and diabetic nephropathy. PMID:19908070 PMID:30467801 A partial or complete breakage of the continuity of a bone. 2019-04-08T20:45:29Z human_phenotype HP:0020110 Bone fracture HP:0020110 Abnormal increase or decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-08T20:48:36Z HP:0030334 HP:0030335 Abnormal CD4+CD25+ Treg cell proportion Abnormal CD4+CD25+ regulatory T cell proportion Abnormal Treg proportion Abnormal proportion of regulatory T cells Abnormal regulatory T cell proportion human_phenotype Abnormal CD4-positive, CD25-positive regulatory T cell count HP:0020111 Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific. Abnormal regulatory T cell proportion HP:0020111 Abnormal increase or decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:19751267 Abnormal increase of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-08T20:50:53Z HP:0030337 Elevated CD4-positive, CD25-positive regulatory T cell count Elevated proportion of CD4+CD25+ regulatory T cells Increased proportion of CD4+CD25+ Treg cells Increased proportion of CD4+CD25+ regulatory T cells Increased proportion of Treg cells Increased proportion of regulatory T cells human_phenotype HP:0020112 Increased regulatory T cell proportion HP:0020112 Abnormal decrease of the regulatory (Treg) CD4+ T cell subpopulation, commonly characterized by the CD127lowCD25hi phenotype, with the optional additional positivity for FoxP3, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-08T20:51:32Z HP:0030336 Decreased proportion of CD4+CD25+ Treg cells Decreased proportion of CD4+CD25+ regulatory T cells Decreased proportion of regulatory T cells Reduced proportion of CD4+CD25+ regulatory T cells Absence of CD4+CD25+ Tregs human_phenotype HP:0020113 Decreased regulatory T cell proportion HP:0020113 Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. 2019-04-08T20:54:37Z Chronic HPV infection Persistent HPV infection human_phenotype HP:0020114 Persistent human papillomavirus infection HP:0020114 Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. PMID:24643184 PMID:26239127 Abnormal increase or decrease of any CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-10-27T05:35:14Z Abnormal CD8+ T cell subsets human_phenotype HP:0020115 Abnormal CD8+ T cell subset proportion HP:0020115 A circumscribed area of pus or necrotic debris located in the subcutaneous tissue (subcutaneous fat layer), below the dermis. 2025-10-28T06:47:56Z human_phenotype HP:0020116 Subcutaneous abscess HP:0020116 Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. 2019-07-02T14:49:12Z human_phenotype HP:0020117 With this feature, the intracellular attachment plates may be thinner than usualler or separated into small, triangular segments. The thickness of the hemidesmosomes may be less than usual. Hypoplastic dermoepidermal hemidesmosomes HP:0020117 Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. PMID:11851880 PMID:25487405 Congenital absence of the radial artery. 2019-07-02T16:30:41Z human_phenotype HP:0020118 Radial artery aplasia HP:0020118 Congenital absence of the radial artery. PMID:24650137 A structural abnormality of the retinal nerve fiber layer 2019-07-02T16:34:14Z Abnormal retinal nerve fibre layer morphology human_phenotype HP:0020119 The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve. Abnormal retinal nerve fiber layer morphology HP:0020119 Abnormal retinal nerve fibre layer morphology Swelling (edema) of the retinal nerve fibers. 2019-07-02T16:39:25Z Retinal nerve fibre oedema human_phenotype HP:0020120 Retinal nerve fiber edema HP:0020120 Retinal nerve fibre oedema A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. 2019-07-02T16:46:09Z human_phenotype HP:0020121 Assisted reproductive technology is used primarily for infertility treatments to achieve pregnancy. Conception by assisted reproductive technology HP:0020121 A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. PMID:28844405 Red blood cells that appear to have parts of them bitten away. 2019-07-02T20:24:07Z Blister cells Degmacytes human_phenotype HP:0020122 This feature can be observed with acute hemolytic anemia (AHA) related to glucose-6-phosphate dehydrogenase (G6PD) deficiency. In this disorder, AHA can be triggered by ingestion of fave beans, infections, and certain medications. The blood film can show poikilocytosis with bite cells. Bite cells HP:0020122 Red blood cells that appear to have parts of them bitten away. ISBN:978-0-07174889-6 A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. 2019-07-02T20:36:06Z Tympanic calcification human_phenotype HP:0020123 Plaques related to tympanosclerosis do not form spherical lesions and are typically within the drum substance itself which is normally easily discerned when using the binocular view of a microscope rather than the monocular, two-dimensional view of a hand-held otoscope. Such plaques can alter compliance of the tympanic membrane and can lead to sclerotic fixation of the ossicles, both of which can result in a mild conductive hearing loss. Histologically, lesions vary slightly according to their stage of development showing differing amounts of increased fibroblasts, abnormal fibers, areas of hyalinization, and areas of calcification into an osseous-like matrix. Most patients require no treatment. Tympanosclerosis HP:0020123 A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. PMID:27656306 2025-10-29T06:16:32Z human_phenotype HP:0020124 Involuntary imitation or repetition of another person's actions. Echopraxia HP:0020124 Involuntary imitation or repetition of another person's actions. PMID:22807284 Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. 2019-07-02T22:49:55Z Conjunctival avascular cysts (filtering blebs) Spontaneous filtering bleb human_phenotype HP:0020125 Spontaneous conjunctival filtering bleb HP:0020125 Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. PMID:24768550 PMID:8749053 Conjunctival avascular cysts (filtering blebs) A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. 2019-07-03T17:10:08Z human_phenotype HP:0020126 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. Prostate mass HP:0020126 A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. 2019-07-03T17:35:14Z human_phenotype HP:0020127 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. Periarticular soft-tissue mass HP:0020127 Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. 2019-07-05T15:49:35Z human_phenotype HP:0020128 Aplasia of the olfactory tract HP:0020128 Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. PMID:27863011 https://orcid.org/0000-0001-5208-3432 Any deviation of the concentration of one or more proteins in the urine. 2019-07-05T16:29:22Z human_phenotype HP:0020129 Abnormal urine protein level HP:0020129 An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). 2019-07-05T16:30:20Z Increased urinary NGAL human_phenotype HP:0020130 An increased urinary NGAL concentration may indicate tubular injury. Increased urinary neutrophil gelatinase-associated lipocalin HP:0020130 An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). PMID:18725016 Increased urinary NGAL Abnormal structure of the basement membrane of the renal tubulus. 2019-07-05T16:55:32Z human_phenotype HP:0020131 Abnormal tubular basement membrane morphology HP:0020131 Increase in thickness of the basement membrane of the tubulus of the kidney. 2019-07-05T16:56:26Z human_phenotype HP:0020132 Thickening of the tubular basement membrane HP:0020132 Increase in thickness of the basement membrane of the tubulus of the kidney. PMID:20142905 Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. 2019-07-05T17:07:56Z Glomerular visceral epithelial cell hypertrophy Hypertrophy of visceral epithelial cells human_phenotype HP:0020133 Podocytes, also called visceral glomerular epithelial cells, are terminally differentiated cells that line the outer surface of the glomerular basement membrane. Podocytes prevent protein leakage into the urinary space, and also provide important tensile strength to the glomerular capillaries, by opposing the hydrostatic pressure from within. In contrast to glomerular endothelial and mesangial cells, podocytes do not typically proliferate. Studies have shown that following podocyte loss, the inability of podocytes to proliferate contributes to the development of glomerulosclerosis. Consequently, in order to cover the denuded glomerular basement membrane, podocytes increase in size due to hypertrophy. Although this is initially compensatory, podocyte hypertrophy is likely maladaptive, and contributes to glomerulosclerosis. Podocyte hypertrophy HP:0020133 Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. PMID:15610239 PMID:32866505 Abnormally increased count of neutrophils in urine. 2019-07-05T17:23:53Z human_phenotype HP:0020134 Increased urine neutrophil count HP:0020134 Abnormally increased count of neutrophils in urine. https://orcid.org/0000-0001-7941-2961 A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. 2019-07-05T17:28:59Z human_phenotype HP:0020135 Myofibromatosis HP:0020135 A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. NCIT:C3742 PMID:29364448 The presence of circulating IgG autoantibodies to cardiolipin. 2019-07-05T17:39:35Z human_phenotype HP:0020136 Anticardiolipin IgG antibody positivity HP:0020136 The presence of circulating IgG autoantibodies to cardiolipin. PMID:30256771 The presence of circulating IgM autoantibodies to cardiolipin. 2019-07-05T17:41:28Z human_phenotype HP:0020137 Anticardiolipin IgM antibody positivity HP:0020137 The presence of circulating IgM autoantibodies to cardiolipin. PMID:30256771 Medical history of a recent bite injury due to an animal. 2019-07-05T17:44:09Z human_phenotype HP:0020138 The spectrum of injury is broad and infectious complications, generally due to unusual pathogens, are common. History of recent animal bite HP:0020138 Medical history of a recent bite injury due to an animal. PMID:26179017 Medical history of a recent bite injury due to an insect. 2019-07-05T17:46:38Z human_phenotype HP:0020139 History of recent insect bite HP:0020139 Medical history of a recent bite injury due to an insect. PMID:24364549 Medical history of a recent bite injury due to a tick. 2019-07-05T17:48:14Z human_phenotype HP:0020140 History of recent tick bite HP:0020140 Medical history of a recent bite injury due to a tick. PMID:24364549 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. 2019-07-05T17:52:19Z Blood pressure substantially higher in lower than upper extremities Blood pressure substantially lower in arms than legs Blood pressure substantially lower in upper than lower extremities human_phenotype HP:0020141 This feature may be seen, for instance, in Takayasu arteritis. Blood pressure substantially higher in legs than arms HP:0020141 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. PMID:12101189 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. 2019-07-05T17:56:44Z Blood pressure substantially higher in upper than lower extremities Increased arm-leg blood pressure gradient human_phenotype HP:0020142 This feature can be observed in aortic coarctation. Blood pressure substantially higher in arms than legs HP:0020142 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. PMID:28377475 A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. 2019-07-05T19:01:46Z human_phenotype HP:0020143 Tracheal duplication cyst is a rare congenital malformation presenting in childhood with stridor or dysphagia from a mass effect on the trachea or esophagus. The features of the tracheal duplication cyst are similar to those of bronchogenic duplication cyst and laryngeal duplication cyst, but with histopathological features of the trachea. The trachea is known to originate from the respiratory diverticulum, a ventral outpouching of foregut lumen. The postulated embryological basis of a tracheal duplication cyst may be similar to that of the anomalous bronchi and is a result of abnormal budding of the bronchial tree during the fourth to sixth weeks of embryogenesis. Tracheal duplication cyst HP:0020143 A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. PMID:25313910 The presence of calcium phosphate crystals in the urine. 2019-07-05T19:05:11Z human_phenotype HP:0020144 Calcium phosphate crystals are pleiomorphic, often appearing as birefringent stars or needles, occurring in isolation or in clumps. Plates are granular and non-birefringent. Calcium phosphate crystalluria HP:0020144 The presence of calcium phosphate crystals in the urine. PMID:26509782 PMID:3599249 PMID:8671802 The presence of calcium oxalate crystals in the urine. 2019-07-05T19:06:11Z human_phenotype HP:0020145 There are two types of calcium oxalate crystals, the dihydrate (or Wedellite) and the monohydrate (orWhewellite), which are frequently found together in the same sample. The former have mostly a typical bipyramidal shape, while the latter are more pleiomorphic, although the ovoid shape is the most frequent. Bipyramidal crystals are birefringent only when large or in aggregates, but even then birefringence is usually not intense. The monohydrates, however, are always strongly birefringent. Calcium oxalate may be found in normal subjects, often as a consequence of ingestion of foods like chocolate, beet-root, peanuts, rhubarb, spinach, etc., in stoneformers, in patients with hyperoxaluria, or after ethylene glycol poisoning. Calcium oxalate crystalluria HP:0020145 The presence of calcium oxalate crystals in the urine. PMID:26509782 PMID:3599249 PMID:8671802 The presence of calcium carbonate crystals in the urine. 2019-07-05T19:11:59Z human_phenotype HP:0020146 Calcium carbonate crystals usually appear as clumped granules. Calcium carbonate crystalluria HP:0020146 The presence of calcium carbonate crystals in the urine. PMID:26509782 PMID:8671802 Increased concentration of 2-methylbutyryl glycine in the urine. 2019-07-05T19:25:20Z human_phenotype HP:0020147 This phenotype can be related to a defect in the degradation pathway of L- isoleucine leading to increased urinary excretion of 2-methylbutyryl glycine. 2-Methylbutyryl glycinuria HP:0020147 Increased concentration of 2-methylbutyryl glycine in the urine. PMID:17883863 https://orcid.org/0000-0002-8169-9049 An abnormally elevated concentration od mead acid in the blood circulation. 2019-07-05T19:33:18Z human_phenotype HP:0020148 Elevated serum Mead acid as a proportion of total fatty acids is an indirect marker of a deficiency of essential fatty acids. Increased circulating mead acid level HP:0020148 An abnormally elevated concentration od mead acid in the blood circulation. PMID:25440954 An increase concentration of succinate in the blood circulation. 2019-07-05T19:49:33Z human_phenotype HP:0020149 Elevated circulating succinate HP:0020149 An increase concentration of succinate in the blood circulation. PMID:29434314 The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal. 2019-07-05T19:52:14Z Elevated urinary Tamm-Horsfall protein concentration human_phenotype HP:0020150 Uromodulin (also known as Tamm Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. Levels of uromodulin in the urine and in the blood, where it is present in lower amounts, are valuable biomarkers for tubular mass and renal function. Elevated urinary uromodulin level HP:0020150 The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:28781372 The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. 2019-07-05T20:03:40Z Anti-double-stranded DNA antibody positivity human_phenotype HP:0020151 Anti-DNA antibodies can be observed in persons with systemic lupus erythematosus (SLE), being a formal classification criterion. Anti-dsDNA antibody positivity HP:0020151 The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. PMID:15804704 Lack of stability of a distal joint (e.g., finger). 2019-07-05T20:21:18Z Distal joint laxity human_phenotype HP:0020152 Distal joint hypermobility HP:0020152 Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. 2019-07-05T21:01:45Z human_phenotype HP:0020153 Positive blood 1,3 beta glucan test HP:0020153 Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. PMID:27475024 A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. 2019-07-05T21:03:08Z human_phenotype HP:0020154 Nevus comedonicus has a predilection for the face and neck area. Nevus comedonicus presents with grouped, dilated, plugged follicular ostia in a honeycomb pattern. The plugged ostia contain lamellated keratinaceous material. Their appearance resembles black dots but the material cannot be easily removed mechanically in contrast to acne comedones. Nevus comedonicus lesions might present with various patterns of distribution: unilateral, bilateral, linear, interrupted, segmental, or blaschkoid. Nevus comedonicus HP:0020154 A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. PMID:23888253 An abnormal structure of the female germ cell (egg cell). 2019-07-06T18:45:54Z human_phenotype HP:0020155 Abnormal oocyte morphology HP:0020155 Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida. 2019-07-06T18:49:23Z human_phenotype HP:0020156 During mammalian fertilization, sperm need to reach the cumulus-oocyte complex, get through the hyaluronic matrix of the cumulus and penetrate the zona pellucida (ZP) in order to fuse with the egg. Abnormal zona pellucida morphology HP:0020156 Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida. PMID:26329136 Reduced thickness of the zona pellucida. 2019-07-06T18:52:13Z human_phenotype HP:0020157 Thin zona pellucida HP:0020157 Reduced thickness of the zona pellucida. PMID:7657763 An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. 2019-07-06T19:34:06Z Increased circulating docosatetraenoate level human_phenotype HP:0020158 Increased circulating adrenic acid concentration HP:0020158 An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. PMID:28456640 https://orcid.org/0000-0002-8169-9049 Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. 2019-07-06T19:39:36Z Reduce response to GnRH stimulation test human_phenotype HP:0020159 Reduced response to gonadotropin-releasing hormone stimulation test HP:0020159 Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. PMID:22723321 Reduce response to GnRH stimulation test Cellular accumulation of GM1 gangliosides. 2019-07-06T19:48:26Z human_phenotype HP:0020160 At the neuropathological level, severe infantile GM1-gangliosidosis patients exhibit distended neurons that contain typical lamellar inclusions referred to as membranous cytoplasmic bodies which are also found in other lipidoses. Although neurons are the primary target for storage, astrocytes may also appear abnormally vacuolated. Neuronal pathology in late onset forms is delayed and tends to be more severe in deeper structures of the brain than in the cortex. Inclusions in the liver are of fibrillar nature and are different from the lamellar bodies in neurons. Abnormal accumulation of GM1-ganglioside and, to a much lesser extent, its asialo-derivative GA1, in the brain is the most prominent biochemical feature. GM1-ganglioside accumulation HP:0020160 Cellular accumulation of GM1 gangliosides. PMID:9063740 Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. 2019-07-06T20:57:42Z human_phenotype HP:0020161 Branch retinal artery occlusion HP:0020161 Blockage of a branch of the retinal artery. This can cause loss of a section of visual field. PMID:19376586 https://orcid.org/0000-0003-0986-4123 A morphological abnormality of of tumor or neoplastic cells, characterized by atypical size, shape, cytoplasmic or nuclear features, or other deviations from normal cellular architecture. 2025-10-29T06:36:33Z human_phenotype HP:0020162 Abnormal neoplastic cell morphology HP:0020162 Ischemia in the territory of the cilioretinal artery causing opacification of the inner retina and visual loss. This is most commonly seen in central retinal vein occlusion in the young. 2019-07-06T21:01:57Z Cilioretinal artery occlusion human_phenotype HP:0020163 Cilioretinal arteriolar hypoperfusion HP:0020163 Ischemia in the territory of the cilioretinal artery causing opacification of the inner retina and visual loss. This is most commonly seen in central retinal vein occlusion in the young. PMID:28058169 https://orcid.org/0000-0003-0986-4123 Acute complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion associated with choroidal ischemia. 2019-07-06T21:05:14Z human_phenotype HP:0020164 Ophthalmic artery occlusion HP:0020164 Acute complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion associated with choroidal ischemia. PMID:30148234 https://orcid.org/0000-0003-0986-4123 Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. 2019-07-06T21:08:14Z Branch retinal vein obstruction human_phenotype HP:0020165 Branch retinal vein occlusion HP:0020165 Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels. PMID:30570991 https://orcid.org/0000-0003-0986-4123 Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. 2019-07-06T21:10:20Z human_phenotype HP:0020166 Central retinal vein occlusion may be associated with glaucoma or ocular hypertension. If the central retinal vein has two tributaries at the optic disc, hemiretinal vein occlusion may occur. It can cause cilioretinal arteriolar hypoperfusion. Central retinal vein occlusion HP:0020166 Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis. PMID:30252241 A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. 2019-07-06T21:12:32Z human_phenotype HP:0020167 Hemiretinal vein occlusion HP:0020167 A variant of central retinal vein occlusions that involves the superior or inferior half of the retina. PMID:22069354 https://orcid.org/0000-0003-0986-4123 A signet ring has a flattened surface at the top of the ring with an engraved or raised symbol, historically used to stamp a seal into correspondence. Comparatively, these cells acquire a signet cell morphology due to accumulation of abundant mucin in cytoplasm, leading to nuclei dislocation to the periphery. 2025-10-29T06:37:37Z human_phenotype HP:0020168 A cancer is labelled a signet ring cell adenocarcinomas if greater than half of tumor cells show prominent intracytoplasmic mucin and an eccentrically placed crescent-shaped nucleus. Tumor signet ring cell HP:0020168 An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. 2019-07-06T21:39:59Z human_phenotype HP:0020169 Abnormal drug response HP:0020169 An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. PMID:16948615 https://orcid.org/0000-0002-7440-8864 High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. 2019-07-06T21:41:53Z Elevated blood drug concentration Elevated plasma drug concentration Elevated serum drug concentrations Increased plasma drug concentration Increased serum drug concentration human_phenotype HP:0020170 Increased blood drug concentration HP:0020170 High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. PMID:26075072 https://orcid.org/0000-0002-7440-8864 Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. 2019-07-06T21:44:04Z Decreased plasma drug concentration Decreased serum drug concentration Reduced blood drug concentration Reduced plasma drug concentration Reduced serum drug concentrations human_phenotype HP:0020171 Decreased blood drug concentration HP:0020171 Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. PMID:26075072 https://orcid.org/0000-0002-7440-8864 An unpleasant or harmful reaction resulting from treatment with a drug. 2019-07-06T21:45:45Z Adverse drug reaction Drug-induced reaction Drug-induced response Toxic drug response human_phenotype HP:0020172 Adverse drug response HP:0020172 An unpleasant or harmful reaction resulting from treatment with a drug. PMID:11072960 https://orcid.org/0000-0002-7440-8864 Decreased response to a drug intervention in comparison to the expected response. 2019-07-06T21:46:54Z Decreased drug efficacy human_phenotype HP:0020173 Reduced drug efficacy HP:0020173 Decreased response to a drug intervention in comparison to the expected response. PMID:26178435 https://orcid.org/0000-0002-7440-8864 Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. 2019-07-06T21:47:57Z Drug resistance human_phenotype HP:0020174 Refractory drug response HP:0020174 Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course. PMID:29188449 https://orcid.org/0000-0002-7440-8864 Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. 2019-07-06T22:04:04Z Reduced cholinesterase level human_phenotype HP:0020175 Serum cholinesterase (butyrylcholinesterase (BChE)) is an enzyme that hydrolyzes acetylcholine. BChE is synthetized in the liver and has conventionally been used as a liver function test. Reduced circulating cholinesterase activity HP:0020175 Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal. PMID:29853783 https://orcid.org/0000-0002-8169-9049 The presence of cholesterol crystals in the urine. 2019-07-06T22:11:11Z human_phenotype HP:0020176 Cholesterol crystals are transparent plates with well-defined edges and corners, which polarize light inconstantly. They are not found in normal subjects, and characteristically occur in patients with lipiduria secondary to nephrotic syndrome. Cholesterol crystalluria HP:0020176 The presence of cholesterol crystals in the urine. PMID:8671802 An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. 2019-07-06T22:18:57Z Abnormal CD8-positive TEMRA T cell proportion Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated human_phenotype HP:0020177 Abnormal CD8+ TEMRA T cell proportion HP:0020177 A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). 2019-07-06T22:25:02Z human_phenotype HP:0020178 Dendritic cells (DC), the professional antigen-pre-senting cells that prime specific immune responses,comprise a very small percentage of circulating whiteblood cells. Abnormal dendritic cell count HP:0020178 A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). CL:0000451 PMID:15795906 Any deviation from the normal concentration of haptoglobin in the blood circulation. 2019-07-11T20:28:25Z Abnormal circulating haptoglobin concentration Abnormal haptoglobin level human_phenotype HP:0020179 Haptoglobin is primarily produced in the liver and is functionally important for binding free hemoglobin fromlysed red cells in vivo, preventing its toxic effects. Abnormal circulating haptoglobin concentration HP:0020179 The concentration of haptoglobin in the blood circulation is above the upper limit of normal. 2019-07-11T20:30:03Z Elevated circulating haptoglobin concentration Elevated haptoglobin concentration Elevated haptoglobin level Elevated haptoglobin level in blood Increased haptoglobin concentration Increased haptoglobin level Increased haptoglobin level in blood human_phenotype HP:0020180 Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. Elevated circulating haptoglobin concentration HP:0020180 The concentration of haptoglobin in the blood circulation is below the lower limit of normal. 2019-07-11T20:36:13Z Decreased circulating haptoglobin concentration Decreased haptoglobin concentration Decreased haptoglobin level Decreased haptoglobin level in blood Reduced haptoglobin concentration Reduced haptoglobin level Reduced haptoglobin level in blood human_phenotype HP:0020181 Decreased circulating haptoglobin concentration HP:0020181 A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. 2019-07-24T16:39:04Z Abnormal A-type atrial natriuretic peptide level human_phenotype HP:0020182 Abnormal circulating A-type atrial natriuretic peptide concentration HP:0020182 A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HPO_CONTRIBUTOR:RGD_SJWang PMID:28552863 A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. 2019-07-24T16:40:06Z Increased circulating A-type natriuretic peptide level human_phenotype HP:0020183 Increased circulating A-type natriuretic peptide concentration HP:0020183 A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HPO_CONTRIBUTOR:RGD_SJWang PMID:28552863 A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. 2019-07-24T16:42:47Z Decreased circulating A-type natriuretic peptide level human_phenotype HP:0020184 Decreased circulating A-type natriuretic peptide concentration HP:0020184 A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. HPO_CONTRIBUTOR:RGD_SJWang PMID:28552863 Abnormal morphological development of the superior part of the cerebellum. 2019-09-03T12:21:50Z human_phenotype HP:0020185 Superior cerebellar dysplasia HP:0020185 The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. 2019-09-03T12:36:55Z Multi-lobulated spleen human_phenotype HP:0020186 Sometimes a splenic lobule may extend medially anterior to the upper pole of the left kidney and less often posterior to the upper pole of the left kidney. Although these lobules are not of any clinical importance, close relation of the splenic lobule to the upper pole of the left kidney may cause misinterpretations as a mass originating from the kidney by the radiologists. Multilobulated spleen HP:0020186 The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. PMID:23710135 Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. 2019-09-03T12:56:36Z Pachygyria with cortical thickness > 10 mm Pachygyria with cortical thickness above 10 mm human_phenotype HP:0020187 Thick pachygyria HP:0020187 Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. PMID:28440899 Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. 2019-09-03T12:58:34Z human_phenotype HP:0020188 Anterior predominant pachygyria with 5-10 mm cortical thickness HP:0020188 Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. PMID:28440899 http://www.wikidata.org/entity/Q90573458 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. 2019-09-03T13:01:16Z Occipital predomimant classic pachygyria Pachygyria with cortical thickness over 10 mm posterior predominant human_phenotype HP:0020189 Posterior predominant thick cortex pachygyria HP:0020189 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. PMID:28440899 http://www.wikidata.org/entity/Q90573458 Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. 2019-09-03T13:03:33Z Pachygyria with cortical thickness > 10 mm perisylvian predominant human_phenotype HP:0020190 Perisylvian predominant thick cortex pachygyria HP:0020190 Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. PMID:28440899 http://www.wikidata.org/entity/Q90573458 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. 2019-09-03T13:06:53Z Pachygyria with cortical thickness > 10 mm anterior predominant human_phenotype HP:0020191 Anterior predominant thick cortex pachygyria HP:0020191 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. http://www.wikidata.org/entity/Q90573458 Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. 2019-09-03T13:36:14Z human_phenotype HP:0020192 Pachygyria with 5-10 mm cortical thickness HP:0020192 Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. PMID:28440899 http://www.wikidata.org/entity/Q90573458 An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. 2019-09-05T13:57:09Z human_phenotype HP:0020193 Reptilase time may be increased with a deficiency of fibronogen. Unlike the thrombin time, this assay is not affected by the presence of heparin, hirudin, or direct thrombin inhibitors in a blood sample. Prolonged reptilase time HP:0020193 An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. PMID:23546720 An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2019-09-05T14:01:38Z human_phenotype Alpha heavy chain disease HP:0020194 IgA heavy chain paraproteinemia HP:0020194 An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. PMID:25125965 An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2019-09-05T14:04:32Z human_phenotype Gamma heavy-chain disease HP:0020195 IgG heavy chain paraproteinemia HP:0020195 An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. PMID:22301495 An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2019-09-05T14:05:43Z human_phenotype HP:0020196 IgM heavy chain paraproteinemia HP:0020196 An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. PMID:17403946 An increased circulation of arachidonic acid in the blood circulation. 2019-09-05T14:12:41Z Increased circulating arachidonate level Increased circulating arachidonic acid level human_phenotype HP:0020197 Increased circulating arachidonic acid concentration HP:0020197 An increased circulation of arachidonic acid in the blood circulation. PMID:30034875 https://orcid.org/0000-0002-8169-9049 Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. 2019-09-05T14:20:11Z human_phenotype HP:0020198 Abnormal circulating 18-hydroxycorticosterone level HP:0020198 Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. PMID:2669615 A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. 2019-09-05T14:21:53Z human_phenotype HP:0020199 Decreased circulating 18-hydroxycortisone level HP:0020199 An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. 2019-09-05T14:22:21Z human_phenotype HP:0020200 Increased circulating 18-hydroxycortisone level HP:0020200 An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. PMID:22238407 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks. 2019-12-23T15:56:20Z human_phenotype HP:0020201 Abnormal sarcomere morphology HP:0020201 Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. 2019-12-23T15:57:40Z human_phenotype HP:0020202 Z-discs (Z-disk, Z-line, Z-band) delineate the lateral borders of sarcomeres and are the smallest functional units in striated muscle. The core of a Z-disc consists of actin filaments coming from adjacent sarcomeres which are crosslinked by alpha-actinin molecules. Z-discs, which are difficult to detect in conventional light microscopy, appear in the longitudinal view of electron microscopy as electron dense bands with varying sizes, ranging from 30 to 50 nm in fast muscle and 100 t0 140 nm in slow muscle and cardiac myocytes. Abnormal Z disk morphology HP:0020202 Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. PMID:22028589 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. 2019-12-23T15:58:23Z human_phenotype HP:0020203 Z-band streaming HP:0020203 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. PMID:1180479 PMID:22028589 Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. 2019-12-23T16:29:36Z Renal tubulointerstitial bacterial organisms human_phenotype HP:0020204 Tubulointerstitial bacteria can be ascending or vascuolcentric/blood-born. This finding can be associated with neutrophil rich infiltrates. Tubulointerstitial bacterial infiltration HP:0020204 Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. https://orcid.org/0000-0003-2356-950X Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. 2019-12-23T16:33:20Z Renal tubulointerstitial fungal organisms human_phenotype HP:0020205 Tubulointerstitial fungi be ascending or vascuolcentric/blood-born. This finding can be associated with necrotizing tubulointerstitial lesions. Tubulointerstitial fungal infiltration HP:0020205 Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. https://orcid.org/0000-0003-2356-950X The pinna has fewer folds and grooves than usual. 2019-12-23T20:41:28Z human_phenotype HP:0020206 Simple ear HP:0020206 The pinna has fewer folds and grooves than usual. PMID:15523657 Seizures precipitated by exogenous stimuli. 2020-02-24T13:36:35Z human_phenotype HP:0020207 Included in 2001 ILAE Proposed Classification of Seizures. Seizures precipitated by fever, head injury, or alcohol withdrawal or anti-epileptic medication withdrawal are not provoked seizures. Reflex seizure HP:0020207 Seizures precipitated by exogenous stimuli. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. 2020-02-24T13:39:28Z human_phenotype HP:0020208 Eating-induced seizure HP:0020208 A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. 2020-02-24T13:40:34Z human_phenotype HP:0020209 Hot water-induced seizure HP:0020209 A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. 2020-02-24T13:41:45Z human_phenotype HP:0020210 Praxis-induced seizure HP:0020210 A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. PMID:11422340 PMID:24512781 https://orcid.org/0000-0002-1735-8178 A seizure precipitated by movement or a change in posture. 2020-02-24T13:46:03Z human_phenotype HP:0020211 Proprioceptive-induced seizure HP:0020211 A seizure precipitated by movement or a change in posture. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A seizure precipitated by reading. 2020-02-24T13:47:03Z human_phenotype HP:0020212 These are typically manifest by myoclonic movements of the jaw or throat, increasing in frequency and potentially culminating in a bilateral tonic-clonic seizure if reading continues. Reading-induced seizure HP:0020212 A seizure precipitated by reading. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. 2020-02-24T13:48:34Z human_phenotype HP:0020213 Somatosensory-induced seizure HP:0020213 A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. PMID:11422340 https://orcid.org/0000-0002-1735-8178 Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. 2020-02-24T13:51:07Z human_phenotype HP:0020214 Seizures are stereotyped and typically unilateral or bilateral tonic in nature. Startle-induced seizure HP:0020214 Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. PMID:11422340 https://orcid.org/0000-0002-1735-8178 Seizures induced by thinking and decision-making. 2020-02-24T13:53:17Z Cognition induced seizure human_phenotype HP:0020215 These have been reported occurring in response to higher nonverbal mental activity such as playing chess or card games, performing mathematical calculation, drawing complex figures, manipulating spatial information, and typing. Thinking-induced seizure HP:0020215 Seizures induced by thinking and decision-making. PMID:11422340 https://orcid.org/0000-0002-1735-8178 Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. 2020-02-24T13:55:09Z Photosensitive seizure human_phenotype HP:0020216 Visually-induced seizure HP:0020216 Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. PMID:11422340 https://orcid.org/0000-0002-1735-8178 A type of focal motor seizure in which awareness is retained throughout the seizure. 2020-02-24T14:10:19Z Focal motor aware seizure human_phenotype HP:0020217 Focal aware motor seizure HP:0020217 A type of focal motor seizure in which awareness is retained throughout the seizure. PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-1735-8178 A type of focal atonic seizure during which awareness is fully retained throughout. 2020-02-24T14:12:12Z human_phenotype HP:0020218 Focal aware atonic seizure HP:0020218 A type of focal atonic seizure during which awareness is fully retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-1735-8178 A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. 2020-02-24T14:20:36Z human_phenotype HP:0020219 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Motor seizure HP:0020219 A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. PMID:28276060 https://orcid.org/0000-0002-1735-8178 A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. 2020-02-24T14:54:22Z Localised atonic seizure Localised hypotonic seizure Localized atonic seizure Localized hypotonic seizure Partial atonic seizure Partial hypotonic seizure Segmental atonic seizure Segmental hypotonic seizure human_phenotype HP:0020220 Focal atonic seizure HP:0020220 A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. PMID:11580774 PMID:28276060 PMID:28276064 https://orcid.org/0000-0002-1735-8178 A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. 2020-02-24T15:50:52Z human_phenotype HP:0020221 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding clonic seizures when the onset is not known. Clonic seizure HP:0020221 A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. PMID:11580774 https://orcid.org/0000-0002-1735-8178 A decreased concentration of homocysteine in the blood. 2022-10-04T17:59:43Z Lower blood homocysteine human_phenotype HP:0020222 Hypohomocysteinemia HP:0020222 A decreased concentration of homocysteine in the blood. PMID:29018201 A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. 2022-10-04T18:12:37Z human_phenotype HP:0020223 The dermal sinus tracks in from the skin and may end in the soft tissues, epidural space, or intradurally, where it is commonly associated with (generally benign) intradural inclusion tumors (including dermoid, epidermoid, or teratoma), thickened fatty filum, tethered cord, or diastematomyelia (split cord syndrome). Dermal sinus tracts are different from innocuous coccygeal dimples, which are located lower within the gluteal cleft and are not associated with cutaneous stigmata; completely 'classic' dimples do not require further workup or follow-up. See Figure 1 of PMID:31484633. Dermal sinus tract HP:0020223 A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region. PMID:31484633 A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass. 2023-09-16T17:00:10Z human_phenotype HP:0020224 Mammary duct ectasia HP:0020224 A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass. PMID:32491597 A circumscribed area of pus or necrotic debris in the breast. 2023-09-16T17:01:56Z human_phenotype HP:0020225 Breast abscess HP:0020225 Pain or discomfort produced by touching the nipple. 2023-09-16T17:06:09Z human_phenotype HP:0020226 Nipple tenderness HP:0020226 An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery, 2023-09-16T17:09:59Z human_phenotype HP:0020227 Floating gallbladder HP:0020227 An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery, PMID:20529542 A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue. 2023-11-10T16:31:31Z human_phenotype HP:0020228 Biospecimen phenotypic feature HP:0020228 Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination). 2023-11-10T16:45:57Z human_phenotype HP:0020229 The lymph nodes are organized lymphoid organs that contain lymphocytes within a fine reticular stroma. The structures within a lymph node include the capsule, subcapsular sinus, cortex (B cell zone with follicles and germinal centers), paracortex (T cell zone), medullary sinuses, medullary cords and hilus. Abnormal lymph-node biospecimen HP:0020229 Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination). PMID:17067938 Any phenotypic abnormality of the architecture of the tissue of a lymph node. 2023-11-10T16:51:38Z human_phenotype HP:0020230 Each tissue is composed of many different cell types that assemble into organized patterns. Tissue architecture is defined by the cellular and extracellular compartments that cooperate with each other through division of labor. Abnormal lymph-node tissue architecture HP:0020230 Any phenotypic abnormality within cells located in a lymph node. 2023-11-10T16:53:04Z human_phenotype HP:0020231 Abnormal lymph-node cellular finding HP:0020231 An anomaly of the Q wave of the electrocardiogram. 2025-10-29T07:00:50Z Pathological Q wave human_phenotype HP:0020232 Physiologically, the Q wave is mainly observed in the lateral leads aVL, I, V5, and V6 and is not observed in leads V1 to V3. The Q wave points downward and has a width less than 0.03s (i.e., 1 small square) and a depth of less than 3 mm (3 small squares), and it does not exceed 1/4 of the R wave in the given lead. The development of pathological Q waves has long been correlated with worsened outcome in patients with ST elevation myocardial infarction Abnormal Q wave HP:0020232 An anomaly of the Q wave of the electrocardiogram. PMID:31747210 Abnormal expression of an antigen (marker) by cells located in a lymph node. 2023-11-10T16:56:09Z human_phenotype HP:0020233 Abnormal lymph-node cellular antigen expression HP:0020233 An alteration that affects multiple components of the architecture of a lymph node. 2023-11-10T16:56:56Z Distorted lymph node architecture human_phenotype HP:0020234 Altered lymph-node tissue architecture HP:0020234 Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma. 2023-11-10T17:09:27Z human_phenotype HP:0020235 Effaced lymph-node architecture HP:0020235 In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles. 2023-11-10T17:10:19Z human_phenotype HP:0020236 This finding, if not an artifact of poor tissue processing, favors lymphoma but may be seen in reactive states. Vaguely nodular lymph-node architecture HP:0020236 Migration of substantial numbers of lymphocytes into the capsule of a lymph node. 2023-11-10T17:22:55Z human_phenotype HP:0020237 Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically have few or no lymphocytes within the capsule itself. Lymph-node capsular invasion by lymphocytes HP:0020237 Migration of lymphocytes into the soft tissues surrounding the lymph node. 2023-11-10T17:23:08Z human_phenotype HP:0020238 Lymph node capsules are formed by fibrous tissue encapsulating the lymph node, and typically the lymphocytes within a lymph node do not extravasate outside of the capsule into soft tissues surrounding the lymph node. Lymph-node extracapsular extension by lymph-node lymphocytes HP:0020238 Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal. 2023-11-10T17:28:51Z human_phenotype HP:0020239 Increased lymph-node epithelioid histiocyte count HP:0020239 Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node. 2023-11-10T17:29:25Z human_phenotype HP:0020240 Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes. Scattered lymph node individual epithelioid histiocytes HP:0020240 Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node. 2023-11-10T17:29:50Z human_phenotype HP:0020241 Histiocytes are tissue-resident macrophages with a moderate amount of cytoplasm that can occasionally show more abundant cytoplasm and appear similar to epithelial cells. These epithelioid histiocytes may be scattered and/or clustered together within lymph nodes under certain conditions, but are generally not prominent in benign non-reactive lymph nodes. Clustered lymph node epithelioid histiocytes HP:0020241 Any phenotypic abnormality of the architecture of follicles of a lymph node. 2023-11-10T17:30:31Z Abnormal follicular lymph-node architecture human_phenotype HP:0020242 A lymph node follicle is a loosely arranged structure with an outer mantle of small T lymphocytes and a germinal center composed of B lymphocytes, follicular dendritic cells, and macrophages. Abnormal lymph-node follicle architecture HP:0020242 Any phenotypic abnormality of the architecture of follicles of a lymph node. PMID:17067937 Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance. 2023-11-10T17:33:40Z Floral follicular lymph node architecture Floral growth pattern human_phenotype HP:0020243 Floral-pattern lymph node follicles HP:0020243 In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells. 2023-11-10T17:36:23Z Follicular colonisation Follicular colonization human_phenotype HP:0020244 Colonization of follicles by lymphoma cells HP:0020244 Follicular colonisation Reduction in the average distance between adjacent lymph node follicles. 2023-11-10T17:50:48Z Crowded follicles human_phenotype HP:0020245 Follicles in lymph nodes are usually spaced apart, however in certain conditions such as florid reactive follicular hyperplasia and follicular lymphoma, the follicles can become very crowded, even back-to-back with few interfollicular cells in between. Crowded lymph-node follicles HP:0020245 An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells). 2023-11-10T17:51:28Z Follicular lysis human_phenotype HP:0020246 Lymph-node follicular lysis HP:0020246 An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells). PMID:14502795 A loss of the typical polarization of the architecture of a lymph node germinal center. 2023-11-10T18:54:26Z human_phenotype HP:0020247 Germinal centers typically have one side containing mostly larger centroblasts and the other side containing mostly small centrocytes. The side with more centroblasts appears darker on an H&E stained section and is termed the dark zone and the other side appears lighter and is termed the light zone. This polarization of germinal center topology is often visualized on H&E stained sections of reactive lymph nodes but may not be as obvious if the germinal centers are small or if the specific section happens to contain mostly dark zone or mostly light zone. This polarization is typically lost in follicular lymphomas. Non-polarized lymph node germinal centers HP:0020247 A deviation from the typically fairly round or oval form of a lymph node germinal center. 2023-11-10T18:59:23Z human_phenotype HP:0020248 Germinal centers may become more elongated and/or take on irregular shapes such as somewhat snake-like/serpentine or other shapes. Irregularly shaped lymph node germinal centers HP:0020248 An abnormality of the structure of the mantle or marginal zone of a lymph node. 2023-11-10T19:13:12Z human_phenotype HP:0020249 The normal marginal zone is the area circumferentially adjacent to the mantle zone and distal to the germinal center of a reactive (secondary) follicle. Abnormal lymph-node marginal or mantle zone morphology HP:0020249 2023-11-10T19:13:37Z human_phenotype HP:0020250 Marginal zones are not typically present in lymph nodes, and when they are, they are difficult to distinguish from mantle zones on H&E. Marginal zones are a rim/band of lymphocytes surrounding mantle zones in secondary follicles (those containing germinal centers), and are typically only visualized in specific locations such as Peyer patches of the small bowel, or spleen, and not normally seen in lymph nodes. Expansion of marginal zones should prompt evaluation for a possible marginal zone lymphoma. Abnormal lymph node marginal zone morphology HP:0020250 2023-11-10T19:13:46Z human_phenotype HP:0020251 Abnormal lymph node mantle zone morphology HP:0020251 An anomaly of the synovial-like fluid found within a bursa, which is a small, closed sac lined by synovial membrane that reduces friction between tissues such as tendons, muscles, ligaments, and bones. 2025-10-29T07:08:11Z human_phenotype HP:0020252 Abnormal bursal fluid morphology HP:0020252 Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node. 2023-11-10T19:15:33Z Germinal centers with expanded mantle zones Germinal centres with expanded mantle zones human_phenotype HP:0020253 Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zone is usually relatively thin (i.e. only a few rows of lymphocytes extending out from the germinal center), however may be significantly expanded, particularly in mantle cell lymphoma. Lymph node with expanded mantle zones HP:0020253 Germinal centres with expanded mantle zones Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections. 2023-11-10T19:16:18Z human_phenotype HP:0020254 Although not necessarily a neoplastic feature, the border between germinal centers and mantle zones may become poorly demarcated in certain lymphomas. Lymph node with poorly defined germinal center borders HP:0020254 Any phenotypic abnormality of germinal centers of a lymph node. 2023-11-10T19:18:31Z human_phenotype HP:0020255 The germinal center is a specialized microstructure that forms in secondary lymphoid tissues, producing long-lived antibody secreting plasma cells and memory B cells, which can provide protection against reinfection. Abnormal lymph-node germinal center morphology HP:0020255 Any phenotypic abnormality of germinal centers of a lymph node. PMID:30410492 The count of leukocytes per unit volume in a bursa aspirate specimen is above the uppper limit of normal. 2025-10-29T07:10:11Z human_phenotype HP:0020256 This finding is characteristic of septic arthritis. To ascertain this finding, typically, a specimen of bursal fluid is removed from the inflammed joint with a needle and syringe (aspiration) and examined microscopically. Elevated bursal fluid leukocyte count HP:0020256 This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture. 2023-11-10T19:32:09Z human_phenotype HP:0020257 This pattern may be observed in mantle cell lymphoma. Mantle zone pattern HP:0020257 2023-11-10T19:32:58Z human_phenotype HP:0020258 Germinal centers with absent marginal zones HP:0020258 Fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone, below the lower limit of normal, usually taken to be two standard deviations below the norm or above the 3rd percentile for the gestational age. 2025-11-16T15:57:03Z Decreased BPD human_phenotype HP:0020259 Decreased biparietal diameter HP:0020259 Decreased BPD Fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone, above the upper limit of normal, usually taken to be two standard deviations above the norm or above the 97th percentile for the gestational age. 2025-11-16T15:57:19Z Increased BPD human_phenotype HP:0020260 Increased biparietal diameter HP:0020260 Increased BPD Lack of the typical easily recognized delineation of primary follicles within lymph nodes. 2023-11-10T19:36:39Z human_phenotype HP:0020261 Follicles generally are relatively distinct at low magnification on H&E stained slides, however may not be obvious on the H&E stained slide, requiring immunohistochemistry to confirm the presence of follicle formation. Poorly defined primary lymph-node follicles HP:0020261 This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells. 2023-11-10T19:37:12Z PTGC human_phenotype HP:0020262 While PTGC is a relatively common finding, there is an association with nodular lymphocyte predominant Hodgkin lymphoma, and morphologically may mimic follicular lymphoma (as well as immunohistochemically with regard to BCL2 staining if not carefully evaluated at high magnification), particularly the floral variant. Progressive transformation of germinal centers HP:0020262 This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells. PMID:14502795 PTGC Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes. 2023-11-10T19:49:24Z human_phenotype HP:0020263 Germinal centers typically contain macrophages that are engulfing cells undergoing apoptosis from the antigen selection process. The macrophages have relatively abundant cytoplasm containing apoptotic debris and are termed tingible-body macrophages (tingible is a somewhat non-specific term simply meaning capable of being stained). Tingible-body macrophages may be rare or absent in abnormal germinal centers such as in follicular lymphoma. Tingible body macrophages owe their name to their ability to actively phagocytose apoptotic lymphoid cells, and the tingible bodies (TBs) observed in their cytoplasm are apoptotic bodies. Absent germinal center tingible body macrophages HP:0020263 Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes. PMID:33967475 Absence of extreme paucity of mitotic figures in a lymph node germinal center. 2023-11-10T19:54:40Z human_phenotype HP:0020264 Germinal centers typically have many cells undergoing cell division and therefore mitotic figures are frequently seen within germinal centers. If multiple germinal centers are present, it is unusual not to see at least some mitotic figures. Absent/decreased mitotic figures is an abnormal finding typically seen in low grade follicular lymphomas. Lack of germinal center mitotic figures HP:0020264 Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node. 2023-11-10T19:55:20Z human_phenotype HP:0020265 Secondary follicles (follicles with germinal centers) typically show mantle zones which are a rim or band of mostly B cells surrounding germinal centers that on H&E appears as densely packed small lymphocytes immediately surrounding germinal centers. The mantle zones typically are thicker (are several rows of lymphocytes extending out from the germinal center) on one side and thinner (only one or very few rows of lymphocytes extending out from the germinal center) on the other side. This polarization is not always obvious but is often seen, and is often lost in some atypical conditions such as lymphomas involving or surrounding germinal centers. Non-polarized mantle zones HP:0020265 Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing. 2023-11-10T20:10:23Z human_phenotype HP:0020266 Hyalinized lymph-node vessels HP:0020266 Collagen deposition, typically with decreased cellularity, within lymph-node follicles. 2023-11-10T20:12:24Z Follicular sclerosis human_phenotype HP:0020267 Lymph-node follicular sclerosis HP:0020267 Loss of the typical patency (openness) of lymph node sinuses. 2023-11-10T20:14:01Z human_phenotype HP:0020268 Lymph node sinuses are structures that carry fluid and some cells traveling to and from the lymph node parenchyma, and often contain some histiocytes. These are normally patent but may be compressed by proliferating or infiltrating cells such as lymphoma to the point where they are no longer visible on routine H&E stained sections. Compressed lymph-node sinuses HP:0020268 Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles. 2023-11-10T20:15:07Z Pseudofollicles human_phenotype HP:0020269 Lymph-node proliferation centers HP:0020269 Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours. 2023-11-10T20:16:11Z human_phenotype HP:0020270 This finding may raise suspicion of a neoplasm of mantle zone cells such as mantle cell lymphoma. Other lymphomas with cytologic atypia such as marginal zone lymphoma may also replace normal mantle zone cells. Cytologic atypia in mantle cells HP:0020270 Eosinophils count within a lymph node above normal limits. 2023-11-10T20:39:36Z human_phenotype HP:0020271 Lymph nodes typically contain very few if any eosinophils but the number of eosinophils may be high in certain reactive or neoplastic states. Increased lymph-node eosinophils HP:0020271 Number of plasma cells per lymph node above the upper limit of normal. 2023-11-10T20:40:09Z human_phenotype HP:0020272 Lymph nodes typically contain some plasma cells and the number of plasma cells may be increased, sometimes forming sheets of plasma cells, in certain reactive or neoplastic conditions. Increased lymph-node plasma cells HP:0020272 Increased numbers of mitotic figures outside of germinal centers. 2023-11-10T20:42:17Z human_phenotype HP:0020273 Within lymph nodes, germinal centers typically show a high rate of cell division and correspondingly high number of cells undergoing mitosis. Cells outside of germinal centers typically show low levels of cell division visualized as low numbers of mitotic figures. Increased numbers of mitotic figures outside of germinal centers may be seen in certain reactive or neoplastic states. High lymph node non-germinal center mitotic activity HP:0020273 Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes. 2023-11-10T20:43:15Z human_phenotype HP:0020274 This finding may be seen in reactive conditions such as monocytoid B-cell hyperplasia of certain infections or in neoplastic states such as certain marginal zone lymphomas. Lymph-node lymphocyte monocytoid morphology HP:0020274 Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes. 2023-11-10T20:48:12Z Monomorphic cells human_phenotype HP:0020275 Lymph nodes often contain primarily small lymphocytes but typically have some admixed larger lymphocytes and show a little morphological variability. Neoplastic states may show increased morphological variability or decreased morphological variability, the latter showing unusually monotonous morphology among the population of lymphocytes. Reduced lymph node lymphocyte morphological variability HP:0020275 An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node. 2023-11-10T20:51:47Z human_phenotype HP:0020276 Lymph nodes will often show primarily small lymphocytes with relatively few scattered large lymphocytes (often termed immunoblasts). Increased large cells may indicate a reactive condition such as mononucleosis or a neoplastic condition. It may also help differentiate two different neoplasms such as marginal zone lymphoma (which often has increased scattered large cells) and mantle cell lymphoma (which usually has decreased scattered large cells). Increased large lymphocytes in lymph node HP:0020276 Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells. 2023-11-10T20:56:04Z human_phenotype HP:0020277 Hodgkin morphology cells HP:0020277 Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells. PMID:31194473 2023-11-10T20:58:14Z human_phenotype HP:0020278 Abnormal lymph-node lymphoctye nuclear morphology HP:0020278 Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes. 2023-11-10T21:00:50Z human_phenotype HP:0020279 More irregularly shaped nuclei can be seen in normal germinal centers (i.e. centrocytes) and in many types of lymphomas. Irregular lymph-node lymphocyte nuclei HP:0020279 Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions. 2023-11-10T21:07:57Z human_phenotype HP:0020280 Lymph-node Dutcher bodies HP:0020280 Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions. PMID:31309083 Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes. 2023-11-10T21:10:16Z human_phenotype HP:0020281 This finding is seen in very immature lymphocyte precursors (i.e. lymphoblasts in lymphoblastic leukemia/lymphoma) or blastoid cells such as in blastoid mantle cell lymphoma. Finely dispersed lymph node lymphocyte chromatin HP:0020281 Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node. 2023-11-10T21:12:30Z human_phenotype HP:0020282 Abnormal lymph-node lymphocyte chromatin HP:0020282 Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections. 2023-11-10T21:12:49Z human_phenotype HP:0020283 This is a somewhat non-specific finding but one that is often more prominent in lymphocytes of chronic lymphocytic leukemia/small lymphocytic lymphoma. Clumping of lymph node lymphocyte chromatin HP:0020283 Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node. 2023-11-10T21:14:57Z human_phenotype HP:0020284 Abnormal lymph-node lymphocyte cytoplasm morphology HP:0020284 The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes. 2023-11-10T21:15:10Z Scant lymph node lymphocyte cytoplasm human_phenotype HP:0020285 This finding is typically seen in centrocytes, either within normal germinal centers or neoplastic centrocytes in follicles of follicular lymphoma. Decreased lymph node lymphocyte cytoplasm HP:0020285 Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node. 2023-11-10T21:16:06Z human_phenotype HP:0020286 This finding may be observed in reactive or neoplastic lymphocytes located in a lymph node. Increased lymph node lymphocyte cytoplasm HP:0020286 Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2023-11-10T21:24:24Z human_phenotype HP:0020287 Most B-lineage lymphomas and leukemias show CD19 expression. Neoplastic plasma cells (plasma cells are derived from B cells), however, often lose CD19 expression. Abnormal level of lymph-node cellular CD19 expression HP:0020287 Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes. 2023-11-10T21:25:13Z human_phenotype HP:0020288 This term is intended to be applied to findings of lymph-node biopsies in diseases such as lymphoma. Abnormal lymph-node cellular B-cell marker expression HP:0020288 Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2023-11-10T21:25:52Z human_phenotype HP:0020289 CD20 is normally expressed fairly highly on B-lineage cells, except plasma cells (down-regulate CD20 expression to the point where only a small subset of cells show expression). Abnormal level of lymph-node cellular CD20 expression HP:0020289 Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2023-11-10T21:26:16Z human_phenotype HP:0020290 Most B-lineage lymphomas and leukemias as well as plasma cell neoplasms (plasma cells are derived from B cells) show CD79a expression. CD79a expression HP:0020290 Increased levels of CD20 expression compared to normal B cells. 2023-11-10T21:27:29Z human_phenotype HP:0020291 CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. Increased lymph-node cellular CD20 expression HP:0020291 Decreased levels of CD20 expression compared to normal B cells. 2023-11-10T21:27:35Z human_phenotype HP:0020292 CD20 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. Decreased lymph-node cellular CD20 expression HP:0020292 Decreased levels of CD19 expression compared to normal B cells. 2023-11-10T21:28:23Z human_phenotype HP:0020293 CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show decreased levels of expression relative to normal resting B cells. Decreased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. Decreased lymph-node cellular CD19 expression HP:0020293 Increased levels of CD19 expression compared to normal B cells. 2023-11-10T21:28:31Z human_phenotype HP:0020294 CD19 is normally expressed fairly highly on B-lineage cells, but occasionally may show increased levels of expression relative to normal resting B cells. Increased expression is best visualized using flow cytometry when a population of normal B cells is present for comparison. Increased lymph-node cellular CD19 expression HP:0020294 Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry). 2023-11-10T21:28:56Z human_phenotype HP:0020295 PAX5 is a transcription factor that helps control B-cell lineage differentiation and is expressed in the nucleus of immature and mature B cells (including most neoplastic forms), but not in plasma cells. PAX5 expression HP:0020295 Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells. 2023-11-10T21:31:00Z human_phenotype HP:0020296 The BCL2 family of proteins regulate apoptosis, and BCL2 itself displays anti-apoptotic functions. In normal germinal centers, where antigenic selection leads to apoptosis of B cells that recognize self proteins, BCL2 is not expressed. Most low grade follicular lymphomas show aberrant expression of the anti-apoptotic protein BCL2, presumably helping to prevent the germinal center derived neoplastic B cells from undergoing apoptosis. Expression of BCL2 by germinal center B cells is abnormal and typically seen in low grade follicular lymphomas and in at least a subset of B cells in many high grade follicular lymphomas as well. Careful inspection is required when interpreting the stain, however, as normal T cells and occasionally infiltrating mantle zone B cells may also be seen in germinal centers, and these should not be interpreted as BCL2 expression in germinal center B cells. Germinal center B-lymphocyte BCL2 expression HP:0020296 Abnormal occipitofrontal diameter (OFD) refers to a fetal head width measurement, taken between the root of the nose to the most prominent part of the occiput on an ultrasound image that lies outside the expected range for a given gestational age. The expected range typically falls between the 3rd percentile (or more than 2 standard deviations below the mean) and the 97th percentile (or more than 2 standard deviations above the mean). 2025-11-16T17:17:13Z human_phenotype HP:0020297 Abnormal occipitofrontal diameter HP:0020297 Occipitofrontal diameter, measured with fetal sonography, below the lower limit of normal. 2025-11-16T17:22:02Z human_phenotype HP:0020298 Decreased occipitofrontal diameter HP:0020298 Occipitofrontal diameter, measured with fetal sonography, above the upper limit of normal. 2025-11-16T17:22:09Z human_phenotype HP:0020299 Increased occipitofrontal diameter HP:0020299 A structural anomaly of the joint that connects the upper and the lower arm. 2025-11-19T07:45:13Z human_phenotype HP:0020300 Abnormal elbow morphology HP:0020300 A functional anomaly of the joint that connects the upper and the lower arm. 2025-11-19T07:45:49Z human_phenotype HP:0020301 Abnormal elbow physiology HP:0020301 A behavioral pattern characterized by a deliberate and sustained limitation of food intake, often involving avoidance of certain foods, restriction of portion size, or prolonged fasting, resulting in reduced energy or nutrient consumption relative to physiological needs. 2025-11-19T08:08:26Z human_phenotype Anorexia nervosa HP:0020302 Restrictive eating refers to the intentional restriction of eating, not merely a loss of appetite. This behavior is a characteristic feature of anorexia nervosa and some other eating disorders. Restrictive eating HP:0020302 A behavioral pattern characterized by a deliberate and sustained limitation of food intake, often involving avoidance of certain foods, restriction of portion size, or prolonged fasting, resulting in reduced energy or nutrient consumption relative to physiological needs. PMID:26310991 Any deviation from the normal range of the fetal abdominal circumference, which is typically measured sonographically in a transverse view using the outer borders of the skin line at the plane where the fetal stomach, umbilical vein and portal sinus is visible. Abnormal fetal abdominal circumference is defined as less than the 10th or greater than the 90th percentile for gestational age. 2025-11-19T08:14:15Z human_phenotype HP:0020303 Abnormal fetal abdominal circumference HP:0020303 The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is above the upper limit of normal. 2025-11-19T08:16:18Z human_phenotype HP:0020304 Increased fetal abdominal circumference HP:0020304 Any deviation from the normal range of the fetal head circumference, which is typically measured sonographically in the axial plane at the level of the thalami and cavum septic pellucidi, using the outer border of the bony calvarium. Abnormal fetal head circumference is defined as less than the thrid percentile or 2 standard deviations below the mean or greater than the 97the percentile or 2 standard deviations above the mean. 2025-11-19T08:18:04Z human_phenotype HP:0020305 Abnormal fetal head circumference HP:0020305 Any deviation from the normal range of the fetal head circumference, which is typically measured sonographically in the axial plane at the level of the thalami and cavum septic pellucidi, using the outer border of the bony calvarium. Abnormal fetal head circumference is defined as less than the thrid percentile or 2 standard deviations below the mean or greater than the 97the percentile or 2 standard deviations above the mean. PMID:35928073 Fetal head circumference less than the third percentile or 2 standard deviations below the mean. 2025-11-19T08:20:13Z human_phenotype HP:0020306 Decreased fetal head circumference HP:0020306 Fetal head circumference less than the third percentile or 2 standard deviations below the mean. PMID:35928073 Fetal head circumference above the 97th percentile or 2 standard deviations above the mean. 2025-11-19T08:21:38Z human_phenotype HP:0020307 Increased fetal head circumference HP:0020307 Increase in the anteroposterior (axial) dimension of the crystalline lens relative to the overall length of the globe. 2025-12-17T15:17:03Z human_phenotype HP:0020308 Increased anteroposterior lens thickness HP:0020308 Increase in the anteroposterior (axial) dimension of the crystalline lens relative to the overall length of the globe. PMID:21397065 Failure of ligamentous and muscular structures of the ankle to maintain normal joint alignment during movement, resulting in excessive motion that causes manifestations such as subjective or objective feeling of clunking/clicking in the ankle with movement, ankle 'giving way' or sensation of ankle dislocating. 2025-12-18T14:24:44Z human_phenotype HP:0020309 Ankle instability HP:0020309 Failure of ligamentous and muscular structures of the ankle to maintain normal joint alignment during movement, resulting in excessive motion that causes manifestations such as subjective or objective feeling of clunking/clicking in the ankle with movement, ankle 'giving way' or sensation of ankle dislocating. PMID:40188228 Inflammation of retinal venules as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. 2026-01-07T10:25:29Z human_phenotype HP:0020310 Retinal phelbitis is typically seen in sarcoidosis. Retinal phlebitis HP:0020310 Inflammation of retinal venules as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. PMID:40445440 Chronic hypoperfusion due to large vessel disease e.g. carotid artery stenosis, Takayasu disease. Typically presents dilated veins, low retinal arterial pressure, peripheral microaneurysms, ocular hypotension and may lead to iris neovascularisation. Patients may have postural hypotension. 2026-01-07T10:29:16Z human_phenotype HP:0020311 Ophthalmic artery hypoperfusion HP:0020311 Chronic hypoperfusion due to large vessel disease e.g. carotid artery stenosis, Takayasu disease. Typically presents dilated veins, low retinal arterial pressure, peripheral microaneurysms, ocular hypotension and may lead to iris neovascularisation. Patients may have postural hypotension. PMID:12121370 Localized hyperpigmented areas, in the context of subretinal scar tissue, as seen after subretinal neovascularisation. 2026-01-07T16:30:01Z human_phenotype HP:0020312 This includes Fuchs spot seen in myopic retinopathy. Focal hyperpigmented area associated with subretinal scar tissue HP:0020312 Well-demarcated areas of the fundus, with relative reduction in pigment, with respect to the rest of the fundus. 2026-01-07T16:34:24Z human_phenotype HP:0020313 Discrete fundus hypopigmentation is seen in vitiligo, lacunae of CHRPE and achromatic retinal patches. Discrete fundus hypopigmentation HP:0020313 A macular pseudohole is a partial-thickness gap in a normal-thickness fovea, located in the center of the macula. 2026-01-14T08:47:30Z human_phenotype HP:0020314 The diagnosis of macular pseudohole requires an examination by optical coherence tomography (OCT). Macular pseudohole HP:0020314 A macular pseudohole is a partial-thickness gap in a normal-thickness fovea, located in the center of the macula. PMID:20703497 A lamellar macular hole is a structural abnormality of the macula, characterized by a partial-thickness gap in a thinner fovea, located in the center of the macula. 2026-01-14T08:48:53Z human_phenotype HP:0020315 Lamellar macular hole (LMH) is a vitreoretinal disorder characterized by an irregular foveal contour, a break in the inner fovea, dehiscence of the inner foveal retina from the outer retina, and the absence of a full-thickness foveal defect with intact foveal photoreceptors. The diagnosis of LMH requires an examination by optical coherence tomography (OCT). Lamellar macular hole HP:0020315 A lamellar macular hole is a structural abnormality of the macula, characterized by a partial-thickness gap in a thinner fovea, located in the center of the macula. PMID:30625477 A small, sac-like aneurysm (outpouching) of the middle cerebral artery (MCA). MCA berry aneurysms may occur at the MCA bifurcation, on the anterior communicant artery, the anterior cerebral artery, the internal carotid artery, or on the posterior communicant artery. 2026-02-08T15:44:41Z human_phenotype HP:0020316 Middle cerebral artery berry aneurysm HP:0020316 A small, sac-like aneurysm (outpouching) of the middle cerebral artery (MCA). MCA berry aneurysms may occur at the MCA bifurcation, on the anterior communicant artery, the anterior cerebral artery, the internal carotid artery, or on the posterior communicant artery. PMID:29304371 A structural anomaly of an artery that originates from the abdominal aorta. 2026-02-24T07:16:14Z human_phenotype HP:0020317 The abdominal aorta extends from the T12 vertebra and terminates at the L4 vertebra. It gives off anterior, lateral, and posterior branches that supply the abdominal viscera and vertebrae at this level, eventually dividing into the common iliac arteries. Upaired branches (and their typical location) comprise the celiac artery (T12), the superior mesenteric artery (L1), the inferior mesenteric artery (L3), and the median sacral artery. Paired branches comprise the middle adrenal arteries, the renal arteries (L1-2), the gonadal arteries (between L2 and L3), the inferior phrenic arteries, and the lumbar arteries. The abdominal aorta bifurcates into right and left common iliac arteries at L4. Abnormal abdominal aorta branch artery morphology HP:0020317 A structural anomaly of an artery that originates from the abdominal aorta. PMID:39350866 Blockage of the posterior circumflex humeral artery (PCHA), which arises from the third part of the axillary artery and supplies the shoulder joint and a number of its associated muscles. The lesion can be ascertained angiographically, whereby dye is injected both with patient's humerus at the side of the body and again with shoulder held in abduction and external rotation. Test is positive if there is evidence of PCHA occlusion with arm in abduction and external rotation but artery is patent when arm is held at the side. 2026-02-24T07:41:49Z human_phenotype HP:0020318 The axillary artery can be compressed by the humeral head owing to abduction and external rotation of the shoulder joint caused by overhead motion, as typified by pitching. Posterior humeral circumflex artery occlusion HP:0020318 A lack of smooth, physiological alignment or movement between the scapula (shoulder blade) and the posterior thoracic wall (the rib cage). The scapulothoracic joint is unique, as it lacks true synovial articulation and is dynamically controlled through surrounding muscular contractions. The scapula glides on the posterior thorax covered with muscle layers rather than a cartilaginous surface. This feature can be ascertained by radiography or CT scan of the scapula showing incongruity of the scapulothoracic space. 2026-02-24T07:47:23Z human_phenotype HP:0020319 Snapping scapula syndrome, washboard syndrome, or scapulothoracic crepitobursitis are clinical manifestations of scapulothoracic incongruity usually associated with painful crepitus and shoulder joint dysfunction when attempting overhead motion. Scapulothoracic incongruity HP:0020319 A lack of smooth, physiological alignment or movement between the scapula (shoulder blade) and the posterior thoracic wall (the rib cage). The scapulothoracic joint is unique, as it lacks true synovial articulation and is dynamically controlled through surrounding muscular contractions. The scapula glides on the posterior thorax covered with muscle layers rather than a cartilaginous surface. This feature can be ascertained by radiography or CT scan of the scapula showing incongruity of the scapulothoracic space. PMID:34241560 A tear of the latissimus dorsi (LD). Injury to the LD can occur at various locations, from the tendon to the muscle belly. The LD is a broad, flat muscle occupying most of the lower posterior thorax. The muscle's primary function is to move the upper extremity, but it is also considered an accessory muscle of respiration. 2026-02-24T07:56:19Z human_phenotype HP:0020320 Latissimus dorsi rupture HP:0020320 A tear of the latissimus dorsi (LD). Injury to the LD can occur at various locations, from the tendon to the muscle belly. The LD is a broad, flat muscle occupying most of the lower posterior thorax. The muscle's primary function is to move the upper extremity, but it is also considered an accessory muscle of respiration. PMID:28846224 PMID:41179423 Degeneration and resorption of the distal part of the clavicle near the acromioclavicular (AC) joint. Distal clavicular osteolysis (DCO) is an atypical injury occurring most often in athletes and weight lifters, specifically those who perform repetitive overhead movements. DCO results from repetitive excess load to the AC joint, typically through horizontal adduction, adduction, internal rotation, and forward/lateral flexion of the shoulder, such as bench pressing or overhead lifting. Imaging (AP clavicle and/or Zanca view of the AC joint) of DCO often demonstrates microcysts, loss of subchondral bone detail, and osteolysis of the distal clavicle. 2026-02-26T07:36:12Z human_phenotype HP:0020321 Distal clavicular osteolysis HP:0020321 Degeneration and resorption of the distal part of the clavicle near the acromioclavicular (AC) joint. Distal clavicular osteolysis (DCO) is an atypical injury occurring most often in athletes and weight lifters, specifically those who perform repetitive overhead movements. DCO results from repetitive excess load to the AC joint, typically through horizontal adduction, adduction, internal rotation, and forward/lateral flexion of the shoulder, such as bench pressing or overhead lifting. Imaging (AP clavicle and/or Zanca view of the AC joint) of DCO often demonstrates microcysts, loss of subchondral bone detail, and osteolysis of the distal clavicle. PMID:35881753 Any abnormal phenotypic feature observed in a biospecimen derived from breast tissue. 2026-02-26T08:16:54Z human_phenotype HP:0020322 Abnormal breast-tissue biospecimen HP:0020322 Abnormal expression of an antigen (marker) by cells located in breast tissue. 2026-02-26T08:18:14Z human_phenotype HP:0020323 Abnormal breast-tissue cellular antigen expression HP:0020323 Increased level of human epidermal growth factor receptor 2 (HER2) expression in breast tissue. 2026-02-26T08:19:56Z HER2 positive breast tissue human_phenotype HP:0020324 HER2 gene amplification assessed by in situ hybridization (ISH) or protein overexpression assessed by IHC remains the primary predictor of responsiveness to HER2-targeted therapies in breast cancer. Increased breast-tissue HER2 expression HP:0020324 Increased level of human epidermal growth factor receptor 2 (HER2) expression in breast tissue. PMID:29846122 Increased level of estrogen receptor expression in breast tissue. 2026-02-26T08:24:14Z Estrogen receptor positive in breast human_phenotype HP:0020325 More than 70% of all breast cancers are classified as ER+ based on the detection of ER expression by immunohistochemistry in at least 1% of the tumor cells. Increased breast-tissue estrogen receptor expression HP:0020325 Increased level of estrogen receptor expression in breast tissue. PMID:35668111 2026-02-26T08:39:54Z human_phenotype HP:0020326 Almost 70% of breast cancers are hormone receptor-positive. Their cells have positive expression of estrogen receptor (ER) and/or progesterone receptor (PR), which are related to cancer cell growth and spread. Estrogen and its receptor, ER, play a critical role in the development and progression of breast cancer. PR is an upregulated target gene of ER, its expression is dependent on estrogen, and PR can modulate ER action. PR is also a valuable prognostic biomarker of overall survival or disease-free survival in breast cancer. Increased breast-tissue progesterone receptor expression HP:0020326 Almost 70% of breast cancers are hormone receptor-positive. Their cells have positive expression of estrogen receptor (ER) and/or progesterone receptor (PR), which are related to cancer cell growth and spread. Estrogen and its receptor, ER, play a critical role in the development and progression of breast cancer. PR is an upregulated target gene of ER, its expression is dependent on estrogen, and PR can modulate ER action. PR is also a valuable prognostic biomarker of overall survival or disease-free survival in breast cancer. PMID:35115765 Any phenotypic abnormality within cells located in breast tissue. 2026-02-26T08:46:56Z human_phenotype HP:0020327 Abnormal breast-tissue cellular finding HP:0020327 Abnormal (increased) proliferation of epithelial cells in a mammary duct. Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple, affecting the central duct. 2026-02-26T08:47:02Z human_phenotype HP:0020328 Mammary ductal epithelial cell hyperplasia HP:0020328 Abnormal (increased) proliferation of epithelial cells in a mammary duct. Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple, affecting the central duct. PMID:30137824 A biopsy finding in breast tissue of enlarged epithelial cells with abundant granular eosinophilic cytoplasm that can show apical snouting. Metaplastic apocrine cells within the breast are similar to normal axillary, areolar and perineal apocrine cells, having apocrine secretions and identical staining reactions. One of the reasons, however, that these are often not regarded as normal components is that examples of gradual metaplastic change from the normal cuboidal epithelium can be seen and cells with intermediate features can also be discerned on careful examination, suggesting that these are true metaplasia. 2026-02-26T08:53:03Z human_phenotype HP:0020329 See Figure 1 of PMID:18042688. Mammary ductal apocrine metaplasia HP:0020329 A biopsy finding in breast tissue of enlarged epithelial cells with abundant granular eosinophilic cytoplasm that can show apical snouting. Metaplastic apocrine cells within the breast are similar to normal axillary, areolar and perineal apocrine cells, having apocrine secretions and identical staining reactions. One of the reasons, however, that these are often not regarded as normal components is that examples of gradual metaplastic change from the normal cuboidal epithelium can be seen and cells with intermediate features can also be discerned on careful examination, suggesting that these are true metaplasia. PMID:18042688 Any deviation from the normal concentration of inorganic anion in the blood circulation. 2026-03-09T07:31:41Z human_phenotype HP:0020330 Inorganic anions are negatively charged mineral ions that do not contain carbon-hydrogen bonds. The major clinically important anions are chloride, bicarbonate, and phosphate. Additionally, sulfate, nitrate, nitrite, fluoride, and bromide are measured for certain indications. Abnormal circulating inorganic anion concentration HP:0020330 Unremitting, positive visual phenomena, present in the entire visual field and characterized by uncountable tiny flickering dots interposed between the person's vision and the background. The dots are said to resemble static and are typically black and white but can also be colored, flashing, or transparent. In addition to the static, or snow, patients can experience additional visual symptoms of either direct neurological origin, such as palinopsia, photophobia, and nyctalopia (i.e., impaired night vision), or that arise from the optic apparatus. 2026-02-26T09:31:28Z human_phenotype Visual snow HP:0020331 Blue field phenomenon is thought to result from the autovisualization of the own leukocytes in the retinal capillaries. Blue-field entoptic phenomenon HP:0020331 Unremitting, positive visual phenomena, present in the entire visual field and characterized by uncountable tiny flickering dots interposed between the person's vision and the background. The dots are said to resemble static and are typically black and white but can also be colored, flashing, or transparent. In addition to the static, or snow, patients can experience additional visual symptoms of either direct neurological origin, such as palinopsia, photophobia, and nyctalopia (i.e., impaired night vision), or that arise from the optic apparatus. PMID:29140814 PMID:34671311 A phosphene is the perception of light without light actually entering the eye, for instance caused by pressure applied to the closed eyes. 2026-02-26T09:36:19Z human_phenotype HP:0020332 During a hydropic vertigo attack, patients may report nausea, vomiting, sweating, urge to defecate, urge to urinate, phosphenes, headache, photophobia, phonophobia and even transient loss of consciousness. Phosphene HP:0020332 A phosphene is the perception of light without light actually entering the eye, for instance caused by pressure applied to the closed eyes. PMID:30306317 Palinopsia refers to visual images that persist despite removal of the eliciting object; plainopsia presents as persistent afterimages of stationary objects or trailing of images behind moving objects. 2026-02-26T09:39:16Z human_phenotype HP:0020333 Palinopsia has been reported in visual snow syndrome. Palinopsia HP:0020333 Palinopsia refers to visual images that persist despite removal of the eliciting object; plainopsia presents as persistent afterimages of stationary objects or trailing of images behind moving objects. PMID:39412817 A type of function test in which the examiner uses one hand to apply a posterior to anterior force is directly over the scapula and the anterior chest wall is stabilized with the other hand. Test is positive if this scapular stabilization allows for increased shoulder flexion compared to when no stabilization is applied. 2026-02-26T11:29:26Z Positive scapular assistance test human_phenotype HP:0020334 Positive scapular compression test HP:0020334 A type of function test in which the examiner uses one hand to apply a posterior to anterior force is directly over the scapula and the anterior chest wall is stabilized with the other hand. Test is positive if this scapular stabilization allows for increased shoulder flexion compared to when no stabilization is applied. PMID:39319823 Injury with partial or complete tear of the pectoralis major tendon, muscle, or myotendinous junction. 2026-02-26T11:34:59Z human_phenotype Pectoralis major rupture HP:0020335 Pectoralis major tear can be ascertained by ultrasound or MRI of the chest/upper arm. Pectoralis major tear HP:0020335 The amount of 18-oxocortisol in the urine, normalized for urine concentration, is above the upper limit of normal. 2026-02-26T11:51:08Z human_phenotype HP:0020336 Increased levels of urinary 18-oxocortisol may be observed in type 1 familial hyperaldosteronism, type I familial primary hyperaldosteronism, and other conditions. Increased urinary 18-oxocortisol level HP:0020336 Increased levels of urinary 18-oxocortisol may be observed in type 1 familial hyperaldosteronism, type I familial primary hyperaldosteronism, and other conditions. PMID:25776074 PMID:25905293 PMID:29763159 The amount of 18-hydroxycortisol in the urine, normalized for urine concentration, is above the upper limit of normal. 2026-02-26T11:54:49Z human_phenotype HP:0020337 Increased levels of urinary 18-hydroxycortisol may be observed in type 1 familial hyperaldosteronism, type I familial primary hyperaldosteronism, and other conditions. Increased urinary 18-hydroxycortisol level HP:0020337 The amount of 18-hydroxycortisol in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:25905293 PMID:29763159 Malignant melanotic nerve sheath tumors (MMNSTs) are uncommon pigmented tumors of Schwann cell origin, most often found along the spinal nerves. MMNSTs were formerly known as melanotic schwannoma. Although MMNSTs can occur along cranial nerves, they tend to grow along the dorsal spinal nerve roots, and patients often present with indolent pain, weakness, or paresthesia along a corresponding dermatome. On imaging, spinal MMNSTs generally appear similar to the appearance presented in the current case: intradural, extramedullary tumors. In the spine, the tumors typically grow along spinal nerve roots, sometimes assuming a dumbbell configuration if they extend through a foramen. Tumors demonstrate enhancement on CT and are FDG-avid on PET. 2026-03-09T07:51:16Z human_phenotype HP:0020338 MMNST often carry an inactivating mutation in the protein kinase A inhibitory subunit gene protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) on chromosome 17p22-24, which acts as a tumor suppressor. MMNST occur in some patients with Carney Complex. Malignant melanotic nerve sheath tumor HP:0020338 Malignant melanotic nerve sheath tumors (MMNSTs) are uncommon pigmented tumors of Schwann cell origin, most often found along the spinal nerves. MMNSTs were formerly known as melanotic schwannoma. Although MMNSTs can occur along cranial nerves, they tend to grow along the dorsal spinal nerve roots, and patients often present with indolent pain, weakness, or paresthesia along a corresponding dermatome. On imaging, spinal MMNSTs generally appear similar to the appearance presented in the current case: intradural, extramedullary tumors. In the spine, the tumors typically grow along spinal nerve roots, sometimes assuming a dumbbell configuration if they extend through a foramen. Tumors demonstrate enhancement on CT and are FDG-avid on PET. PMID:36302602 An increased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1. 2026-03-26T12:19:09Z Elevated MAIT cell proportion Increased MAIT cell frequency human_phenotype HP:0020339 Increased mucosal-associated invariant T cell proportion HP:0020339 An increased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1. PMID:26940855 An increased or decreased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1. 2026-03-26T12:19:57Z human_phenotype HP:0020340 Abnormal mucosal-associated invariant T cell proportion HP:0020340 An increased or decreased proportion of mucosal-associated invariant T (MAIT) cells among peripheral blood T lymphocytes, above the upper reference limit for age. MAIT cells are innate-like T cells that recognise riboflavin metabolite antigens presented by MR1. PMID:26940855 2026-05-22T11:13:30Z human_phenotype HP:0020341 Unusual periodontitis Increased susceptibility to periodontitis as manifested by recurrent or severe periodontal infection of early onset. HP:0020341 2026-05-22T11:17:28Z Unusual infectious stomatitis Unusual oral mucosal infection human_phenotype HP:0020342 Unusual stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. An unusual stomatitis is characterized by an increased susceptibility to infectious stomatitis, as manifested by recurrent or severe oral mucosal infection. HP:0020342 Increased susceptibility to infection of the pharynx, as manifested by recurrent or severe episodes of pharyngitis. 2026-05-22T11:57:52Z human_phenotype HP:0020343 Unusual pharyngitis HP:0020343 A deviation from the typical ability to voluntarily generate, maintain, or experience mental images representing sensory properties of objects or events without a direct external stimulus. 2026-05-23T07:41:04Z Abnormality of mental imagery Altered mental imagery human_phenotype HP:0020344 Abnormal mental imagery HP:0020344 A deviation from the typical ability to voluntarily generate, maintain, or experience mental images representing sensory properties of objects or events without a direct external stimulus. PMID:23383863 PMID:26412097 Absence or near-absence of voluntary visual mental imagery, such that an individual is unable to intentionally generate visual images in the mind. 2026-05-23T07:44:04Z human_phenotype HP:0020345 Aphantasia HP:0020345 Absence or near-absence of voluntary visual mental imagery, such that an individual is unable to intentionally generate visual images in the mind. PMID:26115582 PMID:39330760 PMID:39386622 Exceptionally vivid voluntary visual mental imagery, in which internally generated images are experienced as vivid, despite intact reality testing and the absence of sensory hallucinations. 2026-05-23T07:45:42Z human_phenotype HP:0020346 Hyperphantasia HP:0020346 Exceptionally vivid voluntary visual mental imagery, in which internally generated images are experienced as vivid, despite intact reality testing and the absence of sensory hallucinations. PMID:32446532 PMID:34296179 A deviation from the normal concentration of a monosaccharide in the blood circulation. 2026-05-24T08:11:09Z human_phenotype HP:0020347 The simplest carbohydrates are called monosaccharides, or simple sugars. They are the building blocks (monomers) for the synthesis of polymers or complex carbohydrates. Monosaccharides are classified based on the number of carbons in the molecule. General categories are identified using a prefix that indicates the number of carbons and the suffix -ose, which indicates a saccharide; for example, triose (three carbons), tetrose (four carbons), pentose (five carbons), and hexose (six carbons). The hexose D-glucose is the most abundant monosaccharide in nature. Abnormal circulating monosaccharide concentration HP:0020347 A deviation from the normal concentration of a disaccharide in the blood circulation. 2026-05-24T08:21:35Z human_phenotype HP:0020348 A disaccharide is formed by a glycosidic bonds form between hydroxyl groups of the two monosaccharide molecules. Abnormal circulating disaccharide concentration HP:0020348 A deviation from the normal concentration of a sugar alcohol in the blood circulation. 2026-05-24T08:24:18Z human_phenotype HP:0020349 Sugar alcohols are organic compounds, typically derived from sugars, containing one hydroxyl group (-OH) attached to each carbon atom. Abnormal circulating sugar alcohol concentration HP:0020349 The concentration of one or more vitamins is outside the reference range. 2026-05-24T08:34:17Z human_phenotype HP:0020350 Abnormal circulating vitamin concentration HP:0020350 The concentration of folate or one of its metabolites in the cerebrospinal fluid (CSF) is outside the limits of normal. 2026-05-24T08:55:00Z human_phenotype HP:0020351 Abnormal CSF folate concentration HP:0020351 Lisfranc injuries refer to bony or ligamentous compromise of the tarsometatarsal and intercuneiform joint complex and include a spectrum of injuries ranging from a stable, partial sprain to a grossly displaced and unstable fracture or fracture-dislocation of the midfoot. Foot x-ray shows either widening of the space between the 1st and 2nd metatarsal to over 2mm at the base, dorsal displacement of the base of the 1st or 2nd metatarsal, discontinuity of a line drawn from the medial base of the 2nd metatarsal to the medial side of the medial cuneiform, irregularity between the medial side of the 5th metatarsal base and the medial side of the cuboid, or disruption of the line connecting the medial aspect of the navicular bone to the medial cuneiform. 2026-06-03T15:50:34Z Lisfranc fracture-dislocation human_phenotype HP:0020352 Ironically, the injury is named after Jaques Lisfranc de Saint-Martin, a French army field surgeon, who actually described a traumatic amputation through the midfoot. Lisfranc injury HP:0020352 Lisfranc injuries refer to bony or ligamentous compromise of the tarsometatarsal and intercuneiform joint complex and include a spectrum of injuries ranging from a stable, partial sprain to a grossly displaced and unstable fracture or fracture-dislocation of the midfoot. Foot x-ray shows either widening of the space between the 1st and 2nd metatarsal to over 2mm at the base, dorsal displacement of the base of the 1st or 2nd metatarsal, discontinuity of a line drawn from the medial base of the 2nd metatarsal to the medial side of the medial cuneiform, irregularity between the medial side of the 5th metatarsal base and the medial side of the cuboid, or disruption of the line connecting the medial aspect of the navicular bone to the medial cuneiform. PMID:28188544 A structural anomaly of the cecum, which is the proximal blind pouch of the ascending colon, is located at the ileocecal junction in the right iliac fossa. 2025-07-01T09:36:19Z Abnormal caecum morphology human_phenotype HP:0025002 Abnormal cecum morphology HP:0025002 A structural anomaly of the cecum, which is the proximal blind pouch of the ascending colon, is located at the ileocecal junction in the right iliac fossa. PMID:29261962 Abnormal caecum morphology Flail chest is a physical exam finding that can be present in the setting of chest wall trauma or injury. When multiple adjacent ribs are fractured in 2 or more places, this can create a focal "free-floating" segment of the chest wall that moves independently from the rest of the chest. 2025-08-10T06:44:23Z human_phenotype HP:0025003 The only other entities on the differential for this are pathologic rib fractures (as opposed to trauma) and iatrogenic (post chest surgery), so the differential isn't particularly broad. Flail chest HP:0025003 Flail chest is a physical exam finding that can be present in the setting of chest wall trauma or injury. When multiple adjacent ribs are fractured in 2 or more places, this can create a focal "free-floating" segment of the chest wall that moves independently from the rest of the chest. PMID:28363365 PMID:39282924 Osteoarthritis of the metatarsophalangeal joint of the first toe. 2016-06-25T09:23:22Z SNOMEDCT_US:6654000 UMLS:C0264134 Arthritis of the big toe human_phenotype HP:0025004 Hallux rigidus is characterized by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409]. Hallux rigidus HP:0025004 Osteoarthritis of the metatarsophalangeal joint of the first toe. PMID:24649409 https://orcid.org/0000-0002-0736-9199 Arthritis of the big toe Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. 2016-08-06T22:31:55Z human_phenotype HP:0025005 Thickening of glomerular capillary wall HP:0025005 Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself. PMID:6879730 https://orcid.org/0000-0002-0736-9199 A structural anomaly of the capillary blood vessels in the renal glomerulus. 2016-08-06T22:53:26Z human_phenotype Abnormalities of the glomerular capillary wall HP:0025006 Abnormal glomerular capillary morphology HP:0025006 An abnormal anatomic position of the fovea. 2016-08-06T23:07:53Z Ectopic macula human_phenotype HP:0025007 Ectopic fovea HP:0025007 Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. 2016-08-06T23:22:12Z human_phenotype HP:0025008 Tracheal tug on inspiration HP:0025008 Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree. https://orcid.org/0000-0002-0003-6754 The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards. 2016-08-07T12:52:55Z Forward directed upper incisors Proclination of the upper incisors Protruding upper incisors human_phenotype HP:0025009 Forward slanting upper incisors HP:0025009 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the fovea. 2016-08-07T13:52:09Z human_phenotype HP:0025010 Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT). Foveal atrophy HP:0025010 A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the fovea. https://orcid.org/0000-0002-0736-9199 Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. 2016-08-07T22:32:49Z human_phenotype HP:0025011 Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901]. Pyriform aperture stenosis HP:0025011 Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. https://orcid.org/0000-0002-0736-9199 Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. 2016-08-07T23:40:40Z human_phenotype HP:0025012 Status cribrosum HP:0025012 Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. https://orcid.org/0000-0002-0736-9199 A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. 2016-08-09T11:43:43Z Decerebrate posturing human_phenotype HP:0025013 Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration). Decerebrate rigidity HP:0025013 A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. https://orcid.org/0000-0002-0003-6754 Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. 2016-08-12T11:18:11Z human_phenotype HP:0025014 This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome. Subcutaneous spheroids HP:0025014 Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. PMID:20847697 2016-08-12T11:24:56Z human_phenotype HP:0025015 Abnormal vascular morphology HP:0025015 A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. 2016-08-12T11:42:27Z human_phenotype HP:0025016 Abnormal capillary morphology HP:0025016 Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). 2016-08-12T11:50:33Z human_phenotype HP:0025017 The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085]. Capillary fragility HP:0025017 A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. 2016-08-12T11:56:48Z human_phenotype HP:0025018 Abnormal capillary physiology HP:0025018 Sudden breakage of an artery leading to leakage of blood from the circulation. 2016-08-12T12:03:50Z human_phenotype HP:0025019 Arterial rupture HP:0025019 Sudden breakage of an artery leading to leakage of blood from the circulation. https://orcid.org/0000-0002-0736-9199 The concentration of prostate-specific antigen in the blood circulation is above the upper limit of normal. 2016-08-12T12:13:13Z Elevated circulating prostate-specific antigen concentration Elevated prostate-specific antigen concentration Elevated prostate-specific antigen level Elevated prostate-specific antigen level in blood Increased prostate-specific antigen concentration Increased prostate-specific antigen level Increased prostate-specific antigen level in blood human_phenotype HP:0025020 Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question. Elevated circulating prostate-specific antigen concentration HP:0025020 A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. 2016-08-22T10:26:22Z Abnormal ESR Abnormal Westergren sedimentation rate human_phenotype HP:0025021 Abnormal erythrocyte sedimentation rate HP:0025021 A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. PMID:10524488 Abnormal ESR A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. 2016-08-22T10:39:06Z Decreased ESR Low ESR human_phenotype HP:0025022 Decreased erythrocyte sedimentation rate HP:0025022 A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. PMID:10524488 Decreased ESR https://orcid.org/0000-0001-7941-2961 Low ESR A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. 2016-08-26T11:13:58Z Atresia of the rectum human_phenotype HP:0025023 Rectal atresia HP:0025023 A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. PMID:20006038 https://orcid.org/0000-0002-0736-9199 An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. 2016-08-26T11:18:38Z human_phenotype HP:0025024 Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and fecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507]. Megarectum HP:0025024 An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. PMID:10869000 https://orcid.org/0000-0002-0736-9199 A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. 2016-08-26T11:49:07Z Vestibular fistula human_phenotype HP:0025025 The condition can cause feces and gas to exit the vaginal vestibule. Rectovestibular fistula HP:0025025 A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. https://orcid.org/0000-0002-0736-9199 Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. 2016-08-26T11:58:54Z human_phenotype HP:0025026 H-type rectovestibular fistula HP:0025026 Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract. PMID:20223314 The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. 2016-08-26T12:11:51Z Cutaneous osteosis Miliary osteoma Osteomatosis human_phenotype HP:0025027 Osteoma cutis HP:0025027 The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. PMID:21152797 PMID:26273166 https://orcid.org/0000-0002-0736-9199 A structural anomaly of nerves of the enteric nervous system. 2016-08-27T11:10:48Z Abnormality of enteric nervous system morphology human_phenotype HP:0025028 The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter. Abnormal enteric nervous system morphology HP:0025028 2016-08-27T11:22:10Z Abnormality of enteric neuron morphology human_phenotype HP:0025029 Abnormal enteric neuron morphology HP:0025029 Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons. 2016-08-27T11:43:00Z human_phenotype Degenerative enteric neuropathy HP:0025030 Enteric neuronal degeneration HP:0025030 2016-08-27T13:44:32Z human_phenotype HP:0025031 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. Abnormality of the digestive system HP:0025031 A functional anomaly of the digestive system. 2016-08-27T13:58:05Z human_phenotype HP:0025032 Abnormality of digestive system physiology HP:0025032 A structural anomaly of the digestive system. 2016-08-27T13:58:23Z Abnormality of digestive system morphology human_phenotype HP:0025033 Abnormal digestive system morphology HP:0025033 Abnormal form of the progenitor cells committed to the erythroid lineage. 2016-09-02T11:14:05Z human_phenotype HP:0025034 Abnormal morphology of erythroid progenitor cell HP:0025034 Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. 2016-09-02T11:16:54Z human_phenotype HP:0025035 Abnormal proerythroblast morphology HP:0025035 A type of radial ray deficiency characterized by short distal radius. The distal radial epiphysis is present but delayed in appearance. The growth of the distal radial epiphysis is decreased causing a normal appearing but short radius. There is little radial deviation of the hand due to adequate radial carpal support. The radius has normal proximal epiphyseal growth. Thumb hypoplasia is almost always present. 2025-08-10T07:59:02Z Short distal radius human_phenotype HP:0025036 Type I radial ray deficiency HP:0025036 A type of radial ray deficiency characterized by short distal radius. The distal radial epiphysis is present but delayed in appearance. The growth of the distal radial epiphysis is decreased causing a normal appearing but short radius. There is little radial deviation of the hand due to adequate radial carpal support. The radius has normal proximal epiphyseal growth. Thumb hypoplasia is almost always present. PMID:3559066 Focal proliferation of glial cells in the hypothalamus. 2016-09-20T10:59:06Z human_phenotype HP:0025037 Hypothalamic gliosis HP:0025037 Focal proliferation of glial cells in the hypothalamus. PMID:26530930 https://orcid.org/0000-0002-0736-9199 A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. 2016-09-21T11:02:09Z Testicular abscess human_phenotype HP:0025038 Intratesticular abscess HP:0025038 A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins. PMID:11598263 Swelling within the basal ganglia due to the accumulation of fluid. 2016-09-25T14:00:54Z Basal ganglia edema Edema of the basal ganglia Oedema of the basal ganglia human_phenotype HP:0025039 Basal ganglia edema HP:0025039 Swelling within the thalamus due to the accumulation of fluid. 2016-09-25T14:11:37Z Edema of the thalamus Oedema of the thalamus Thalamic edema human_phenotype HP:0025040 Thalamic edema HP:0025040 Calcium deposition in the thalamus. 2016-09-25T14:15:01Z human_phenotype HP:0025041 Thalamic calcification HP:0025041 A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery. 2016-09-25T14:21:49Z human_phenotype HP:0025042 Abnormality of mesenteric lymph nodes HP:0025042 Increase in size of one or more mesenteric lymph nodes. 2016-09-25T14:26:25Z human_phenotype HP:0025043 Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged. Enlarged mesenteric lymph node HP:0025043 A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. 2016-09-25T14:30:50Z Pulmonary abscess human_phenotype HP:0025044 Lung abscess may occur in the context of unusual susceptibility to infection and is characteristic of phagocyte defects (chronic granulomatous disease), antibody deficiencies, and severe T-cell deficiencies, with typical pathogens including Staphylococcus aureus, Klebsiella pneumoniae, Aspergillus, and anaerobes. Lung abscess HP:0025044 A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity. PMID:26366400 A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-25T16:43:58Z Abnormal lactate level by magnetic resonance spectroscopy human_phenotype HP:0025045 Abnormal brain lactate level by MRS HP:0025045 A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-25T16:45:22Z Reduced brain lactate level by magnetic resonance spectroscopy human_phenotype HP:0025046 Reduced brain lactate level by MRS HP:0025046 A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-25T16:48:23Z Abnormal brain choline level by magnetic resonance spectroscopy human_phenotype HP:0025047 Abnormal brain choline level by MRS HP:0025047 An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-25T16:49:14Z Reduced brain choline level by magnetic resonance spectroscopy human_phenotype HP:0025048 Reduced brain choline level by MRS HP:0025048 2016-09-26T08:45:22Z Abnormal brain creatine level by magnetic resonance spectroscopy human_phenotype HP:0025049 A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). Abnormal brain creatine level by MRS HP:0025049 An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-26T08:46:45Z Elevated brain creatine level by magnetic resonance spectroscopy human_phenotype HP:0025050 Elevated brain creatine level by MRS HP:0025050 A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-26T08:48:05Z Low brain creatine phosphate Reduced brain creatine level by magnetic resonance spectroscopy human_phenotype HP:0025051 Reduced brain creatine level by MRS HP:0025051 A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). PMID:12557293 PMID:15625559 A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-26T08:50:52Z Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy human_phenotype HP:0025052 Abnormal brain N-acetyl aspartate level by MRS HP:0025052 An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). 2016-09-26T08:52:49Z Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy human_phenotype HP:0025053 Elevated brain N-acetyl aspartate level by MRS HP:0025053 A type of radial ray deficiency characterized by a hypoplastic radius. The radius has both proximal and distal epiphyses but growth is defective in both. This type is essentially a radius in miniature. Growth of the radius proceeds at a decreased rate. 2025-08-10T08:00:43Z human_phenotype HP:0025054 Type II radial ray deficiency HP:0025054 A type of radial ray deficiency characterized by a hypoplastic radius. The radius has both proximal and distal epiphyses but growth is defective in both. This type is essentially a radius in miniature. Growth of the radius proceeds at a decreased rate. PMID:3559066 A type of radial ray deficiency characterized by partial absence of the radius. The radius is partially absent. The defect can be in the proximal, middle, or distal third. All have been reported , but the most frequent is the absence of the distal one or two thirds. The hand is radially displaced . The ulna is thickened, shortened , and bowed radially, and the wrist is unsupported. 2025-08-10T08:02:08Z human_phenotype HP:0025055 Type III radial ray deficiency HP:0025055 A type of radial ray deficiency characterized by partial absence of the radius. The radius is partially absent. The defect can be in the proximal, middle, or distal third. All have been reported , but the most frequent is the absence of the distal one or two thirds. The hand is radially displaced . The ulna is thickened, shortened , and bowed radially, and the wrist is unsupported. PMID:3559066 A type of radial ray deficiency characterized by total absence of the radius. This represents the most common type of radial deficiency. The hand is unsupported and is usually severely radially displaced. 2025-08-10T08:03:32Z human_phenotype HP:0025056 Type IV radial ray deficiency HP:0025056 A type of radial ray deficiency characterized by total absence of the radius. This represents the most common type of radial deficiency. The hand is unsupported and is usually severely radially displaced. PMID:3559066 A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell. 2016-09-26T09:03:16Z Abnormality of olfactory lobe morphology human_phenotype HP:0025057 Abnormal olfactory lobe morphology HP:0025057 Partial or complete wasting (loss) of hypothalamus tissue that was once present. 2016-09-26T09:07:40Z Atrophy of the hypothalamus human_phenotype HP:0025058 Hypothalamic atrophy HP:0025058 A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. 2016-09-26T09:11:25Z human_phenotype HP:0025059 Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes. Splenic abscess HP:0025059 A circumscribed area of pus or necrotic debris in the parenchyma of the spleen. PMID:21319348 Multiple abscess lesions in the spleen. 2016-09-26T09:19:25Z Multilocular splenic abscess human_phenotype HP:0025060 Multifocal splenic abscess HP:0025060 Single (solitary) abscess in the spleen. 2016-09-26T09:21:20Z Solitary splenic abscess Unilocular splenic abscess human_phenotype HP:0025061 Unifocal splenic abscess HP:0025061 The practice of eating earth or soil-like substrates such as clay or chalk. 2016-09-26T09:47:56Z Geophagy human_phenotype HP:0025062 Geophagia HP:0025062 The practice of eating earth or soil-like substrates such as clay or chalk. PMID:23816735 The anterior abdominal wall is sunken and presents a concave rather than a convex contour. 2016-09-26T09:54:43Z human_phenotype HP:0025063 Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax). Scaphoid abdomen HP:0025063 Bleeding in the thalamus. 2016-09-26T10:03:34Z Thalamic hemorrhage human_phenotype HP:0025064 Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging. Thalamic hemorrhage HP:0025064 A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. 2016-09-26T10:08:33Z Abnormal MCV Abnormal erythrocyte volume human_phenotype HP:0025065 Abnormal mean corpuscular volume HP:0025065 Abnormal MCV A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). 2016-09-26T10:10:48Z Decreased MCV Microcytosis Reduced erythrocyte volume human_phenotype HP:0025066 Decreased mean corpuscular volume HP:0025066 Decreased MCV Repeated bouts of sepsis, defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. 2025-08-10T08:46:21Z human_phenotype HP:0025067 Recurrent sepsis HP:0025067 Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. 2016-09-26T10:25:28Z human_phenotype HP:0025068 Incomitant strabismus HP:0025068 Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort. https://orcid.org/0000-0003-0986-4123 Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing. 2016-09-26T10:29:59Z Comitant strabismus human_phenotype HP:0025069 Concomitant strabismus HP:0025069 An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. 2016-09-26T10:36:56Z human_phenotype HP:0025070 U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease. Abnormal U wave HP:0025070 An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3. PMID:22665396 Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves. 2016-09-26T10:39:43Z human_phenotype HP:0025071 Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia. U wave inversion HP:0025071 Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave. 2016-09-26T10:42:48Z Increased U wave amplitude human_phenotype HP:0025072 Prominent U wave HP:0025072 U wave inversion that is induced by exercise stress testing. 2016-09-26T10:44:21Z human_phenotype HP:0025073 Exercise-induced U wave inversion HP:0025073 U wave inversion that is induced by exercise stress testing. PMID:22665396 An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. 2016-09-26T10:46:17Z human_phenotype HP:0025074 Abnormal QRS complex HP:0025074 Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). 2016-09-26T10:48:06Z human_phenotype HP:0025075 Increased QRS voltage HP:0025075 Abnormal amplitude of the QRS complex of the electrocardiogram (EKG). 2016-09-26T10:50:26Z human_phenotype HP:0025076 Abnormal QRS voltage HP:0025076 Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm. 2016-09-26T10:50:45Z human_phenotype HP:0025077 Decreased QRS voltage HP:0025077 The QRS complexes of the electrocardiogram alternate in height. 2016-09-26T10:52:41Z human_phenotype HP:0025078 Electrical alternans HP:0025078 The QRS complexes of the electrocardiogram alternate in height. PMID:8222799 A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas. 2016-09-26T11:01:28Z Pancreas abscess human_phenotype HP:0025079 Pancreatic abscess HP:0025079 A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. 2016-10-12T23:40:17Z human_phenotype HP:0025080 Hyperkeratosis is most commonly orthokeratotic. Orthokeratotic hyperkeratosis HP:0025080 A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. 2016-10-12T23:46:34Z human_phenotype HP:0025081 Darier's sign HP:0025081 A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. PMID:24701633 Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. 2016-10-15T12:16:20Z Abnormal cutaneous elastic fibre morphology human_phenotype HP:0025082 Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362]. Abnormal cutaneous elastic fiber morphology HP:0025082 Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils. PMID:12082143 PMID:21738362 Abnormal cutaneous elastic fibre morphology An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. 2016-10-15T13:13:02Z human_phenotype HP:0025083 Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disorders may show a reduced content of desmosine. Elevated dermal desmosine content HP:0025083 An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin. PMID:2307214 Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. 2016-10-15T13:35:26Z Follicular pustule Hair follicle inflammation human_phenotype HP:0025084 In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation. Folliculitis HP:0025084 Passage of many stools containing blood. 2016-10-15T13:58:14Z Blood in stool Bloody stool Bloody bowel movement Bloody diarrhea human_phenotype HP:0025085 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. Bloody diarrhea HP:0025085 Blood in stool Bloody stool Bloody bowel movement Bloody diarrhea Passage of many stools containing blood and mucus. 2016-10-15T13:59:04Z Bloody mucoid diarrhea human_phenotype HP:0025086 Bloody mucoid diarrhea HP:0025086 Area of skin requiring an increased amount of time to return to its original shape after being stretched. 2016-10-15T14:50:00Z human_phenotype HP:0025087 see PMID:23919031 Delayed recoil upon stretching of skin HP:0025087 Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. 2016-10-24T00:35:53Z human_phenotype HP:0025088 Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line. Onychomadesis HP:0025088 Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. PMID:24882996 PMID:25473242 PMID:28207011 Vomiting of material that is of fecal origin. 2016-10-24T00:38:50Z Faecal vomiting Fecal vomiting Stercoraceous vomiting Vomiting faecal matter Vomiting fecal matter human_phenotype HP:0025089 Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus). Feculent vomiting HP:0025089 Faecal vomiting Vomiting faecal matter A structural anomaly of the mucous lining of the large intestine. 2016-10-24T00:55:54Z human_phenotype HP:0025090 Abnormal large intestinal mucosa morphology HP:0025090 The wrist sign is positive when the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist. 2025-08-10T10:33:24Z human_phenotype HP:0025091 Wrist sign HP:0025091 The wrist sign is positive when the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist. PMID:11711445 Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). 2016-10-24T01:14:11Z Acanthosis Acanthotic epidermis Thickening of upper layer of skin human_phenotype Epidermal hyperplasia HP:0025092 Note that we use the preferred label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells. Epidermal acanthosis HP:0025092 Thickening of upper layer of skin https://orcid.org/0000-0002-6548-5200 A retinal exudate in the area surrounding the optic nerve head. 2016-10-24T01:19:32Z Peripapillary exudation human_phenotype HP:0025093 Peripapillary exudate HP:0025093 A scar with a disc-like shape localized in the macula. 2016-10-24T01:29:42Z human_phenotype HP:0025094 Fibrotic disciform scars are typically thought to represent the end-stage of wet age-related macular degeneration. Disciform macular scar HP:0025094 A scar with a disc-like shape localized in the macula. PMID:24965122 A sudden violent, spasmodic, audible expiration of breath through the nose and mouth. 2016-10-24T01:36:17Z human_phenotype HP:0025095 Sneeze HP:0025095 Unprovoked explosive pathological sneezing. 2016-10-24T01:37:09Z human_phenotype HP:0025096 Paroxysmal sneezing HP:0025096 Unprovoked explosive pathological sneezing. PMID:17388999 Marked, involuntary jerking of the eyelids. 2016-10-28T05:55:32Z Blepharoclonus human_phenotype Eyelid myoclonia HP:0025097 Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences. Eyelid myoclonus HP:0025097 Structural abnormality of the hypothalamus related to defective development. 2016-10-28T06:41:35Z Hypothalamic dysgenesis human_phenotype HP:0025098 Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin. Dysgenesis of the hypothalamus HP:0025098 Structural abnormality of the thalamus related to defective development. 2016-10-28T06:51:03Z Thalamic dysgenesis human_phenotype HP:0025099 Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin. Dysgenesis of the thalamus HP:0025099 Any structural anomaly of the hippocampus, 2016-10-28T07:12:41Z Abnormal morphology of the hippocampus Abnormality of hippocampus morphology human_phenotype HP:0025100 The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. Abnormal hippocampus morphology HP:0025100 Structural abnormality of the hippocampus related to defective development. 2016-10-28T07:15:06Z Hippocampal dysgenesis human_phenotype HP:0025101 Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin. Dysgenesis of the hippocampus HP:0025101 Structural abnormality of the basal ganglia related to defective development. 2016-10-28T07:21:20Z Basal ganglia dysgenesis human_phenotype HP:0025102 Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin. Dysgenesis of the basal ganglia HP:0025102 A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). 2016-10-28T07:30:43Z human_phenotype HP:0025103 Umbilicated nodule HP:0025103 A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated). PMID:24050295 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). 2016-10-28T23:39:18Z human_phenotype HP:0025104 There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow. Capillary malformation HP:0025104 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). PMID:22483320 PMID:25864701 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. 2016-10-28T23:49:41Z Naevus anaemicus human_phenotype HP:0025105 Nevus anemicus HP:0025105 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots. PMID:22483320 PMID:25864701 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. 2016-10-28T23:53:08Z human_phenotype HP:0025106 Nevus roseus HP:0025106 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life. PMID:22483320 PMID:25864701 A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. 2016-10-29T00:22:27Z human_phenotype HP:0025107 Cutis marmorata telangiectatica congenita HP:0025107 A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. PMID:22483320 PMID:25864701 Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. 2016-10-29T00:31:03Z human_phenotype HP:0025108 Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed. Angioma serpentinum HP:0025108 Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis. PMID:25864701 Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. 2016-10-29T00:37:18Z Reduced erythrocyte pyruvate kinase activity human_phenotype HP:0025109 Reduced red cell pyruvate kinase level HP:0025109 Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. PMID:7949104 Large yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula, more specifically at the outer retinal level (RPE/photoreceptor). 2016-11-01T01:20:32Z human_phenotype HP:0025110 Placoid macular lesion HP:0025110 Absence of the crystalline lens in the eye known to be the result of a non-congenital condition, e.g., following surgical removal of the lens for cataracts or trauma. 2025-08-31T15:32:14Z human_phenotype HP:0025111 Acquired aphakia HP:0025111 Decreased tolerance to sound. 2016-11-01T01:30:30Z Noise sensitivity human_phenotype HP:0025112 Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others. Auditory sensitivity HP:0025112 Noise sensitivity https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors. 2016-11-01T01:33:52Z human_phenotype HP:0025113 Misophonia HP:0025113 Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors. PMID:35682372 Hypergranulosis is an increased thickness of the stratum granulosum. 2016-11-01T01:48:14Z human_phenotype HP:0025114 Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum. Hypergranulosis HP:0025114 Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant 2016-11-01T01:58:56Z Colloid bodies Colloid bodies of Civatte Cytoid bodies Hyaline bodies human_phenotype HP:0025115 The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist. Civatte bodies HP:0025115 Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant PMID:23919028 An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. 2016-11-01T10:13:06Z Foetal distress human_phenotype HP:0025116 Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible. Fetal distress HP:0025116 Foetal distress Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. 2016-11-01T10:52:20Z Flattened rete pegs Flattened rete ridges human_phenotype HP:0025117 Rete ridge flattening HP:0025117 Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance. PMID:20548894 Lightening or darkening of the lips from their usual coloring. 2016-11-01T11:25:02Z human_phenotype HP:0025118 Lip discoloration HP:0025118 An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. 2016-11-01T11:25:57Z human_phenotype HP:0025119 This feature may be seen rarely as a paraneoplastic manifestation. Violet lip discoloration HP:0025119 An alteration of the color of the lip to take on a violet color. This term does not include cyanosis. PMID:24346922 Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is ouside of the limits of normal. 2025-09-01T07:38:58Z human_phenotype HP:0025120 Abnormal circulating reverse T3 concentration HP:0025120 HP:0011165 2016-11-10T11:43:51Z human_phenotype HP:0025121 Simple partial occipital seizures is being retired because the clinical manifestations used for seizure classification do not hold true to anatomical landmarks at this level of granularity. An additional dimension based on the anatomical onset of seizures would be too imprecise, and in many instances be incorrect. Whilst clinicians do still talk about a frontal/occipital/temporal/etc. lobe seizure, this is based on assumptions, typical features, or additional EEG or imaging findings. obsolete Simple partial occipital seizures true HP:0025121 A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. 2016-11-14T01:39:51Z Sawtoothed acanthosis human_phenotype HP:0025122 Sawtooth acanthosis HP:0025122 A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis. PMID:19061615 Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks. 2016-11-14T01:47:26Z human_phenotype HP:0025123 White streaks/specks on enamel HP:0025123 A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. 2016-11-14T01:53:11Z Enamel with tendency to chip Spontaneous tooth fracture human_phenotype HP:0025124 Fragile teeth HP:0025124 White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white. 2016-11-14T02:08:04Z human_phenotype HP:0025125 White lesion of the oral mucosa HP:0025125 A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance. 2016-11-14T02:15:28Z EBV-associated oral hairy leukoplakia OHL human_phenotype HP:0025126 Oral hairy leukoplakia HP:0025126 A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color. 2016-11-14T02:23:13Z Solar keratosis human_phenotype HP:0025127 Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin. Actinic keratosis HP:0025127 An abnormally reduced amount of adipose tissue in the abdominal cavity. 2016-11-14T02:33:27Z human_phenotype HP:0025128 Reduced intraabdominal adipose tissue HP:0025128 A structural anomaly of the mucous lining of the small intestine. 2016-11-15T11:57:47Z human_phenotype HP:0025129 Abnormal small intestinal mucosa morphology HP:0025129 Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. 2016-11-15T12:01:54Z Lactase deficiency human_phenotype HP:0025130 Decreased small intestinal mucosa lactase level HP:0025130 Enlargement of the soft tissues of one or more fingers. 2016-11-15T12:08:31Z Swelling of fingers Swollen finger Swollen fingers human_phenotype HP:0025131 Finger swelling HP:0025131 Enlargement of the soft tissues of one or more fingers. PMID:16269085 PMID:19946526 PMID:24758199 PMID:9715244 Swelling of fingers Swollen finger A deviation from normal concentration of the hormone estrogen in the blood circulation. 2016-11-27T13:46:29Z Abnormal circulating estrogen level Abnormal estrogen level Abnormal oestrogen level human_phenotype HP:0025132 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). Abnormal circulating estrogen level HP:0025132 Abnormal oestrogen level A deviation from normal concentrations of estradiol in the circulation. 2016-11-27T13:52:20Z human_phenotype HP:0025133 Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens Abnormal serum estradiol HP:0025133 An elevation above normal limits of the concentration of estradiol in the circulation. 2016-11-27T14:09:28Z Increased estradiol level Increased serum oestradiol human_phenotype HP:0025134 Increased serum estradiol HP:0025134 A deviation from normal concentration of estriol in the circulation. 2016-11-27T14:10:45Z human_phenotype HP:0025135 Abnormal serum estriol HP:0025135 An elevation above normal limits of estriol concentration in the circulation. 2016-11-27T14:13:00Z human_phenotype HP:0025136 Increased serum estriol HP:0025136 A reduction below normal limits of estriol in the circulation. 2016-11-27T14:13:33Z human_phenotype HP:0025137 Decreased serum estriol HP:0025137 A deviation from the normal concentration of circulating estrone. 2016-11-27T14:14:35Z human_phenotype HP:0025138 Abnormal serum estrone HP:0025138 An elevation above normal limits of the concentration of estrone in the circulation. 2016-11-27T14:15:18Z human_phenotype HP:0025139 Increased serum estrone HP:0025139 A reduction below normal limits of the concentration of estrone in the circulation. 2016-11-27T14:15:48Z human_phenotype HP:0025140 Decreased serum estrone HP:0025140 Ectopic deposition of calcium salts found in the gingiva. 2016-11-27T14:27:44Z Gingival calcifications human_phenotype HP:0025141 Gingival calcification HP:0025141 Ectopic deposition of calcium salts found in the gingiva. PMID:25928877 A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. 2016-11-29T11:02:54Z human_phenotype HP:0025142 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. Constitutional symptom HP:0025142 A sudden sensation of feeling cold. 2016-11-29T11:10:01Z Chills human_phenotype HP:0025143 The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold. Chills HP:0025143 Chills Involuntary contraction or twitching of the muscles. 2016-11-29T11:13:35Z Shivering Shuddering human_phenotype HP:0025144 Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold. Shivering HP:0025144 Shivering Shuddering Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. 2016-11-29T11:15:45Z Rigours human_phenotype HP:0025145 A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection. Rigors HP:0025145 Rigours A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells within the fovea. 2016-11-29T11:24:05Z human_phenotype HP:0025146 Foveal degeneration HP:0025146 An irregular grayish appearance of the macula, which is said to resemble beaten bronze or hammered metal. 2016-11-29T11:37:39Z Beaten metal macular appearance Beaten-bronze macular appearance Beaten-bronze macular sheen human_phenotype HP:0025147 This feature wasn initially described in Stargardt disease, but can also be observed in other macular dystrophies. Beaten bronze macular sheen HP:0025147 A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). 2016-11-29T11:49:16Z human_phenotype HP:0025148 The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells. Fluorescein angiography should no longer be used for diagnosis of Stargardt disease. Dark choroid HP:0025148 A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). PMID:27739528 PMID:7248243 Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. 2016-12-03T14:04:10Z human_phenotype Autonomic visceral myopathy Degenerative enteric myopathy HP:0025149 Atrophic muscularis propria HP:0025149 Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. PMID:18329691 Sparse and small myenteric ganglia 2016-12-03T14:28:39Z human_phenotype HP:0025150 Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines. Hypoganglionosis HP:0025150 Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. 2016-12-03T14:36:23Z human_phenotype HP:0025151 Ganglioneuromatosis HP:0025151 Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers. PMID:26361414 Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. 2016-12-03T21:34:47Z Abnormal visual behavior for age Abnormal visual behaviour for age Poor visual behavior for age human_phenotype HP:0025152 A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function. Poor visual behavior for age HP:0025152 Abnormal visual behaviour for age Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. 2016-12-03T22:19:26Z human_phenotype HP:0025153 Transient HP:0025153 Presence of biliary veins that serve as a collateral channel to the systemic circulation 2016-12-03T22:24:40Z Collateral biliary circulation Collateral biliary veins human_phenotype HP:0025154 Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases. Portosystemic collateral veins HP:0025154 A functional anomaly of the hepatobiliary system 2016-12-04T12:05:04Z human_phenotype HP:0025155 Abnormal hepatobiliary system physiology HP:0025155 Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. 2016-12-04T12:14:59Z Dependency on IV nutrition human_phenotype HP:0025156 Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder. Dependency on intravenous nutrition HP:0025156 Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. PMID:16770168 Dependency on IV nutrition An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. 2016-12-04T12:36:02Z human_phenotype HP:0025157 Increased urinary sedoheptulose HP:0025157 Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. 2016-12-04T12:53:55Z human_phenotype Retinal lipofuscin accumulation HP:0025158 Hyperautofluorescent retinal lesion HP:0025158 Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. 2016-12-04T12:54:44Z Hypo-autofluorescent retinal lesion human_phenotype HP:0025159 Hypoautofluorescent retinal lesion HP:0025159 Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. 2016-12-04T12:59:10Z human_phenotype HP:0025160 Abnormal temper tantrums HP:0025160 Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process. 2016-12-04T13:05:18Z human_phenotype HP:0025161 Frequent temper tantrums HP:0025161 Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process. 2016-12-04T13:05:46Z human_phenotype HP:0025162 Severe temper tantrums HP:0025162 A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. 2016-12-04T13:12:19Z Abnormality of optic chiasm morphology human_phenotype HP:0025163 Abnormal optic chiasm morphology HP:0025163 An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. 2016-12-04T13:43:21Z Increased number of elastic fibres in the dermis human_phenotype HP:0025164 Increased number of elastic fibers in the dermis HP:0025164 An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods. PMID:25072684 Increased number of elastic fibres in the dermis Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). 2016-12-04T13:50:37Z Clumping of elastic fibres in the dermis human_phenotype HP:0025165 Clumping of elastic fibers in the dermis HP:0025165 Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis). PMID:25072684 Clumping of elastic fibres in the dermis An increase of the diameter of elastic fibers in the dermis. 2016-12-04T13:54:31Z Thickened elastic fibres in the dermis human_phenotype HP:0025166 Thickened elastic fibers in the dermis HP:0025166 Thickened elastic fibres in the dermis Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. 2016-12-04T13:56:23Z Fragmented elastic fibres in the dermis human_phenotype HP:0025167 Fragmented elastic fibers in the dermis HP:0025167 Fragmented elastic fibres in the dermis Abnormal function of the left ventricule during left ventricular relaxation and filling. 2016-12-04T14:01:20Z human_phenotype HP:0025168 Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging. Left ventricular diastolic dysfunction HP:0025168 Abnormal function of the left ventricule during left ventricular relaxation and filling. PMID:12527689 PMID:14594874 Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. 2016-12-04T14:07:53Z human_phenotype HP:0025169 Left ventricular systolic dysfunction HP:0025169 A central nervous system neoplasm with neuronal and, less consistently, glial differentiation. 2016-12-04T14:30:29Z Glioneuronal tumor Glioneuronal tumour Neuronal and mixed neuronal-glial tumor Neuronal and mixed neuronal-glial tumour Neuronal/glioneuronal neoplasm of the CNS human_phenotype HP:0025170 Neuronal/glioneuronal neoplasm of the central nervous system HP:0025170 Glioneuronal tumour Neuronal and mixed neuronal-glial tumour Neuronal/glioneuronal neoplasm of the CNS A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. 2016-12-04T14:35:51Z Rosette-forming glioneuronal neoplasm Rosette-forming glioneuronal tumor human_phenotype Rosette-forming glioneuronal tumor of the fourth ventricle Rosette-forming glioneuronal tumour of the fourth ventricle HP:0025171 Rosette-forming glioneuronal tumor HP:0025171 A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy. PMID:27179225 Rosette-forming glioneuronal tumour of the fourth ventricle Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa. 2016-12-04T19:28:49Z human_phenotype HP:0025172 Smooth septal thickening on pulmonary HRCT HP:0025172 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa. 2016-12-04T19:30:08Z human_phenotype HP:0025173 Nodular septal thickening on pulmonary HRCT HP:0025173 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture. 2016-12-04T19:31:03Z human_phenotype HP:0025174 Irregular septal thickening on pulmonary HRCT HP:0025174 Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. 2016-12-04T19:34:18Z Honeycomb cysts Honeycombing human_phenotype HP:0025175 Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis. Honeycomb lung HP:0025175 Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. PMID:18195376 A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance. 2016-12-04T19:39:14Z human_phenotype HP:0025176 Intralobular interstitial thickening HP:0025176 Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. 2016-12-04T19:41:52Z human_phenotype HP:0025177 Peribronchovascular interstitial thickening HP:0025177 Increase in thickness of the subpleural interstitium. 2016-12-04T19:44:43Z Subpleural scarring human_phenotype HP:0025178 Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening. Subpleural interstitial thickening HP:0025178 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. 2016-12-04T19:55:32Z GGO Ground glass opacities Ground-glass opacification on pulmonary HRCT human_phenotype HP:0025179 Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease. See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Ground-glass opacification HP:0025179 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. PMID:18195376 PMID:23247773 GGO A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. 2016-12-04T19:57:32Z Centrilobular groundglass opacification Centrilobular groundglass opacity human_phenotype HP:0025180 Centrilobular ground-glass opacification on pulmonary HRCT HP:0025180 An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. 2016-12-04T20:11:28Z human_phenotype HP:0025181 Abdominal aseptic abscess HP:0025181 An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently. PMID:22526827 A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region. 2016-12-04T21:29:56Z Localised area of pendulous skin human_phenotype HP:0025182 Localized area of pendulous skin HP:0025182 Localised area of pendulous skin Abnormal increase or decrease of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2025-10-06T09:15:25Z human_phenotype HP:0025183 Absolute counts (cells per microliter) and proportions (percentage of lymphocytes or of a parent subset) capture different information, so clinical practice uses whichever is validated for a given decision. Some thresholds are count-based (e.g. Pneumocystis prophylaxis in adults); others rest on a proportion or on both, as in the SCID definition, which combines an absolute T-cell count with a naive-CD4 proportion. The choice is also age-dependent, since absolute counts vary with age more than percentages do, so percentages are often preferred in young children. Because a count equals a proportion multiplied by the total lymphocyte number, the two can dissociate: a normal proportion may accompany a low absolute count when total lymphocytes are low, and that dissociation can itself be informative. Abnormal total CD4+ T cell number HP:0025183 An altered state of arousal during sleep that may be reported by the individual or an observation of others. 2025-10-20T11:55:40Z Arousal related sleep disturbance human_phenotype HP:0025184 Arousal parasomnia HP:0025184 An altered state of arousal during sleep that may be reported by the individual or an observation of others. PMID:22965264 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. 2016-12-04T22:17:24Z Marcus Gunn jaw-winking syndrome Pterygoid-levator synkinesis Trigemino-oculomotor synkinesis human_phenotype HP:0025186 Marcus Gunn jaw winking synkinesis HP:0025186 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. PMID:23345532 PMID:25754805 Vocalization (production of recognizable words or other sounds) during sleep with lack of awareness. 2025-10-20T12:36:36Z Somniloquy human_phenotype HP:0025187 Sleep talking HP:0025187 Vocalization (production of recognizable words or other sounds) during sleep with lack of awareness. PMID:30594004 PMID:41986367 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both. 2016-12-04T22:37:03Z human_phenotype HP:0025188 This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment. Retinal vasculitis HP:0025188 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. It can affect veins, arteries or both. PMID:38925285 Hypnic jerks are characterized by sudden and brief (less than 1 second), non-periodic simultaneous contractions of the whole body or one or more extremities at the onset of sleep. 2025-10-20T12:48:37Z Sleep starts human_phenotype HP:0025189 Although hypnic jerks are generally benign, there have been increasing reports of excessive hypnic jerks in neurological disorders such as Parkinsonism, migraine, and brainstem lesions and children with neurologic disorders. Hypnic jerks HP:0025189 Hypnic jerks are characterized by sudden and brief (less than 1 second), non-periodic simultaneous contractions of the whole body or one or more extremities at the onset of sleep. PMID:26329450 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. 2016-12-04T22:50:21Z Bilateral tonic-clonic seizure with generalised onset Generalised tonic-clonic seizure without focal onset Generalised tonic-clonic seizure without partial onset Generalised tonic-clonic seizures without focal onset Generalised-onset tonic-clonic seizure Generalized tonic-clonic seizure without focal onset Generalized tonic-clonic seizure without partial onset Generalized tonic-clonic seizures without focal onset Generalized-onset tonic-clonic seizure Primarily generalised tonic-clonic seizures Primarily generalized tonic-clonic seizures Primary generalised tonic-clonic seizure Primary generalised tonic-clonic seizures Primary generalized tonic-clonic seizure Primary generalized tonic-clonic seizures human_phenotype HP:0025190 Bilateral tonic-clonic seizure with generalized onset HP:0025190 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. PMID:20196795 PMID:28276060 PMID:28276064 PMID:6790275 Bilateral tonic-clonic seizure with generalised onset Primarily generalised tonic-clonic seizures Primary generalised tonic-clonic seizure Primary generalised tonic-clonic seizures HP:0011166 2016-12-04T23:02:24Z human_phenotype HP:0025191 obsolete Segmental myoclonic seizures true HP:0025191 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum). 2016-12-04T23:09:22Z human_phenotype HP:0025192 Subtentorial periventricular white matter hyperdensity HP:0025192 A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity. 2016-12-05T01:51:30Z Bochdalek hernia human_phenotype HP:0025193 Posterolateral diaphragmatic hernia HP:0025193 An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. 2016-12-05T01:55:27Z Morgagni hernia human_phenotype HP:0025194 Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period. Morgagni diaphragmatic hernia HP:0025194 A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present. 2016-12-05T01:57:20Z Central hernia human_phenotype HP:0025195 Central diaphragmatic hernia HP:0025195 An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. 2016-12-05T02:10:17Z human_phenotype HP:0025196 Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states. Increased total iron binding capacity HP:0025196 An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. PMID:3542299 A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. 2016-12-05T11:28:28Z Digital fibrous tumor of Reye Digital fibrous tumour of Reye Infantile digital fibroma Infantile digital fibromatosis human_phenotype HP:0025197 Inclusion body fibromatosis HP:0025197 A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration. NCIT:C3456 PMID:27684985 Digital fibrous tumour of Reye A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp. 2016-12-05T11:49:57Z human_phenotype HP:0025198 The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine. Inflammatory cap polyp HP:0025198 Sleep characterized by frequent interruptions, stopping and starting, which disrupt the normal progression of sleep stages. 2025-10-20T15:53:53Z Broken sleep Fitful sleep Interrupted sleep Restless sleep human_phenotype HP:0025199 Fragmented sleep HP:0025199 Accumulation in muscle cells of filaments composed of actin. 2016-12-06T03:05:47Z Muscle fibre actin filament accumulation human_phenotype HP:0025200 Muscle fiber actin filament accumulation HP:0025200 Muscle fibre actin filament accumulation Any deviation from the normal concentration of apolipoprotein in the blood circulation. 2016-12-10T12:53:01Z Abnormal apolipoprotein level Abnormal circulating apolipoprotein concentration human_phenotype HP:0025201 Abnormal circulating apolipoprotein concentration HP:0025201 The concentration of apolipoprotein A-IV in the blood circulation is above the upper limit of normal. 2016-12-10T12:56:05Z Elevated apolipoprotein A-IV concentration Elevated apolipoprotein A-IV level Elevated apolipoprotein A-IV level in blood Elevated circulating apolipoprotein A-IV concentration Increased apolipoprotein A-IV concentration Increased apolipoprotein A-IV level Increased apolipoprotein A-IV level in blood human_phenotype HP:0025202 Apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II. Elevated circulating apolipoprotein A-IV concentration HP:0025202 Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. 2016-12-10T13:11:24Z Palm tree sign human_phenotype HP:0025203 Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction. See figure 2 in PMID: 29089832. Caput medusae HP:0025203 Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins. PMID:26112857 A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation. 2016-12-10T13:33:36Z human_phenotype HP:0025204 Triggered by HP:0025204 Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant. 2016-12-10T13:41:09Z Breastfeeding triggered symptoms Triggered by breastfeeding human_phenotype HP:0025205 Triggered by breast feeding HP:0025205 Triggered by breastfeeding Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings. 2016-12-10T13:44:40Z Cold triggered symptoms Triggered by cold temperature human_phenotype HP:0025206 Triggered by cold HP:0025206 Triggered by cold temperature Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water. 2016-12-10T13:45:29Z Dehydration triggered symptoms Triggered by dehydration human_phenotype HP:0025207 Triggered by dehydration HP:0025207 Triggered by dehydration Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates. 2016-12-10T13:46:32Z Carbohydrate ingestion triggered symptoms Triggered by carbohydrate ingestion human_phenotype HP:0025208 Triggered by carbohydrate ingestion HP:0025208 Triggered by carbohydrate ingestion Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose. 2016-12-10T13:48:19Z Triggered by fruit sugar human_phenotype HP:0025209 Triggered by fructose ingestion HP:0025209 Triggered by fruit sugar Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose. 2016-12-10T13:48:59Z human_phenotype HP:0025210 Triggered by glucose ingestion HP:0025210 Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol. 2016-12-10T13:50:14Z Triggered by alcohol ingestion Ethanol ingestion triggered symptoms human_phenotype HP:0025211 Triggered by ethanol ingestion HP:0025211 Triggered by alcohol ingestion Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting). 2016-12-10T13:50:53Z Fasting triggered attacks Fasting triggered symptoms Triggered by fasting human_phenotype HP:0025212 Triggered by fasting HP:0025212 Triggered by fasting Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose. 2016-12-10T13:51:49Z Triggered by ingestion of lactose-containing milk human_phenotype HP:0025213 Triggered by galactose ingestion HP:0025213 Triggered by ingestion of lactose-containing milk Applies to a sign or symptom that is provoked or brought about by exposure to heat. 2016-12-10T13:59:21Z Heat triggered symptoms Triggered by heat human_phenotype HP:0025214 Triggered by heat HP:0025214 Triggered by heat Applies to a sign or symptom that is provoked or brought about by febrile illness. 2016-12-10T14:00:39Z Febrile illness triggered symptoms Triggered by fever human_phenotype HP:0025215 Triggered by febrile illness HP:0025215 Triggered by fever Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal. 2016-12-10T14:01:22Z Heavy meal triggered symptoms Triggered by overeating human_phenotype HP:0025216 Triggered by heavy meal HP:0025216 Triggered by overeating Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids. 2016-12-10T14:02:17Z High-fat diet triggered symptoms Triggered by high-fat diet human_phenotype HP:0025217 Triggered by high-fat diet HP:0025217 Triggered by high-fat diet Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing. 2016-12-10T14:02:50Z Hyperventilation triggered symptoms Triggered by hyperventilation human_phenotype HP:0025218 Triggered by hyperventilation HP:0025218 Triggered by hyperventilation Applies to a sign or symptom that is provoked or brought about by a vaccination. 2016-12-10T14:04:16Z Triggered by immunisation Triggered by immunization Triggered by vaccination Vaccination triggered symptoms human_phenotype HP:0025219 Triggered by vaccination HP:0025219 Applies to a sign or symptom that is provoked or brought about by a vaccination. PMID:26633955 Triggered by immunisation Triggered by vaccination Applies to a sign or symptom that is provoked or brought about by menstruation in a female. 2016-12-10T14:05:58Z Menstruation triggered symptoms Triggered by monthly period Triggered by period human_phenotype HP:0025220 Triggered by menstruation HP:0025220 Triggered by monthly period Triggered by period Applies to a sign or symptom that is provoked or brought about by pregnancy in a female. 2016-12-10T14:06:54Z Pregnancy triggered symptoms Triggered by pregnancy human_phenotype HP:0025221 Triggered by pregnancy HP:0025221 Triggered by pregnancy Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep. 2016-12-10T14:07:29Z Sleep deprivation triggered symptoms Triggered by sleep deprivation human_phenotype HP:0025222 Triggered by sleep deprivation HP:0025222 Triggered by sleep deprivation Applies to a sign or symptom that is provoked or brought about by smoking. 2016-12-10T14:07:58Z Smoking triggered symptoms Triggered by cigarette consumption Triggered by smoking Triggered by tobacco use human_phenotype HP:0025223 Triggered by smoking HP:0025223 Triggered by cigarette consumption Triggered by smoking Triggered by tobacco use Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium. 2016-12-10T14:08:50Z Sodium ingestion triggered symptoms Sodium intake triggered attacks Triggered by Na ingestion Triggered by Na+ ingestion Triggered by sodium intake Triggered by salt ingestion human_phenotype HP:0025224 Triggered by sodium ingestion HP:0025224 Triggered by Na ingestion Triggered by Na+ ingestion Triggered by salt ingestion Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise. 2016-12-10T14:09:30Z Sound triggered symptoms Triggered by sound human_phenotype HP:0025225 For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech. Triggered by sound HP:0025225 Triggered by sound Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension. 2016-12-10T14:24:37Z Stress triggered symptoms Triggered by stress human_phenotype HP:0025226 Triggered by stress HP:0025226 Triggered by stress Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled. 2016-12-10T14:28:21Z Excitement triggered symptoms Triggered by excitement human_phenotype Triggered by startle HP:0025227 Triggered by excitement HP:0025227 Triggered by excitement Applies to a sign or symptom that is provoked or brought about by a sudden movement. 2016-12-10T14:29:50Z Kinesigenic Sudden movement triggered symptoms Triggered by sudden movement human_phenotype HP:0025228 Triggered by sudden movement HP:0025228 Triggered by sudden movement Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair. 2016-12-10T14:30:38Z Vestibular stimulation triggered attacks Vestibular stimulation triggered symptoms human_phenotype HP:0025229 Triggered by vestibular stimulation HP:0025229 Inflammation of a tendon. 2016-12-14T11:20:22Z Teninitis human_phenotype HP:0025230 Tendonitis HP:0025230 A structural anomaly of a synovial bursa, which is a synovium-lined, sac-like structure found throughout the body near bony prominences and between bones, muscles, tendons, and ligaments. The bursa itself is a synovial lining that represents a potential space insofar as it is collapsed upon itself until a resulting trigger causes the bursa to become irritated and fill with synovial fluid. 2016-12-14T11:29:35Z Abnormality of synovial bursa morphology human_phenotype HP:0025231 A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip. We include abnormal synovial fluid findings (which are generally assessed by bursa aspiration) in this subhierarchy. A synovial bursa contains bursa fluid, which is essentially a synovial-like fluid produced by the synovial lining of the bursa. Abnormal synovial bursa morphology HP:0025231 A structural anomaly of a synovial bursa, which is a synovium-lined, sac-like structure found throughout the body near bony prominences and between bones, muscles, tendons, and ligaments. The bursa itself is a synovial lining that represents a potential space insofar as it is collapsed upon itself until a resulting trigger causes the bursa to become irritated and fill with synovial fluid. PMID:30020712 Inflammation of a synovial bursa. 2016-12-14T11:33:51Z human_phenotype HP:0025232 Bursitis HP:0025232 Inability to move trunk and limbs and inability to speak during transition into or out of sleep; awareness is preserved and recall is present. 2016-12-14T11:44:36Z human_phenotype HP:0025233 Sleep paralysis is associated with the transition from or to the REM stage of sleep. Sleep paralysis HP:0025233 Inability to move trunk and limbs and inability to speak during transition into or out of sleep; awareness is preserved and recall is present. PMID:32965993 A clinically observable or self-reported abnormal behavior, experience, or physiological event that occurs in association with sleep, specific sleep stages, or sleep-wake transitions. 2016-12-14T11:50:48Z Event that disrupts sleep human_phenotype HP:0025234 Parasomnias are distinct from the primary sleep disorders insomnia, hypersomnia, and circadian rhythm disturbances. They can involve motor, sensory, autonomic, or cognitive activation. Parasomnia HP:0025234 A clinically observable or self-reported abnormal behavior, experience, or physiological event that occurs in association with sleep, specific sleep stages, or sleep-wake transitions. PMID:22965264 PMID:35956054 PMID:40132982 A parasomnia that occurs during non-rapid eye movement (NREM) sleep. 2016-12-14T11:55:11Z Disturbance in NREM NREM parasomnia Non-rapid eye movement parasomnia human_phenotype HP:0025235 NREM parasomnias typically occur within a few hours after the onset of sleep. Episodes can last from a few minutes to as long as 30-40 minutes and are characterized by amnesia for the event. NREM parasomnia HP:0025235 A parasomnia that occurs during non-rapid eye movement (NREM) sleep. PMID:31375204 Ambulation during sleep with lack awareness and limited or no recall of the event. 2016-12-14T12:01:00Z Sleep walking Somnambulism human_phenotype HP:0025236 During an episode of sleepwalking, the somnambulating child typically appears clumsy and might perform unusual actions, such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or when leaving the house. Sleep walking HP:0025236 Ambulation during sleep with lack awareness and limited or no recall of the event. PMID:30458142 PMID:32644427 Sleep walking https://orcid.org/0000-0002-0736-9199 2016-12-14T12:07:36Z HP:0000708 human_phenotype HP:0025237 obsolete Confusional arousal true HP:0025237 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. 2016-12-16T11:55:08Z Foot pain human_phenotype HP:0025238 Foot pain HP:0025238 Foot pain HP:0025240 2016-12-17T00:34:43Z human_phenotype HP:0025239 obsolete Subhyaloid hemorrhage true HP:0025239 An accumulation of blood that is located between the retina and the detached posterior hyaloid, or in the vitreous cavity. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. 2016-12-17T00:54:15Z HP:0025239 HP:0031804 Preretinal haeme Preretinal haemorrhage Preretinal heme Subhyaloid haemorrhage Subhyaloid heme Premacular hemorrhage Subhyaloid hemorrhage human_phenotype HP:0025240 Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident. Not infrequently, a subhyaloid hemorrhage is also associated with a sub-ILM hemorrhage. Preretinal hemorrhage HP:0025240 An accumulation of blood that is located between the retina and the detached posterior hyaloid, or in the vitreous cavity. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area. PMID:27090882 https://orcid.org/0000-0003-0986-4123 Preretinal haemorrhage Subhyaloid haemorrhage A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells). 2016-12-17T01:14:14Z Feathered retinal heme Flame-shaped retinal haemorrhage Linear retina heme human_phenotype HP:0025241 Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure. Flame-shaped retinal hemorrhage HP:0025241 Flame-shaped retinal haemorrhage Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location. 2016-12-17T01:25:52Z Dot-and-blot retinal haemorrhage Round retinal heme human_phenotype HP:0025242 Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages. Dot-and-blot retinal hemorrhage HP:0025242 Dot-and-blot retinal haemorrhage Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium. 2016-12-17T01:29:29Z Subretinal haemorrhage Subretinal heme human_phenotype HP:0025243 Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread. Subretinal hemorrhage HP:0025243 Subretinal haemorrhage An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch membrane. 2016-12-17T01:39:54Z Sub-RPE hemorrhage Subretinal pigment epithelium haemorrhage Subretinal pigment epithelium hemorrhage human_phenotype HP:0025244 This can be associated with 'polypoidal lesions', neovascularization, or trauma. Sub-retinal pigment epithelium haemorrhage HP:0025244 Sub-RPE hemorrhage Subretinal pigment epithelium haemorrhage A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. 2016-12-17T13:11:37Z Skin cyst human_phenotype HP:0025245 In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated. Cutaneous cyst HP:0025245 Skin cyst Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous. 2016-12-17T13:45:04Z Pilar cyst human_phenotype HP:0025246 Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. Trichilemmal cyst HP:0025246 A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm. 2016-12-17T13:49:23Z human_phenotype HP:0025247 Hair protruding from a dermoid cyst punctum is pathognomic for dermoid cysts. Dermoid cyst HP:0025247 A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. 2016-12-17T13:52:25Z human_phenotype HP:0025248 Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles. Eruptive vellus hair cyst HP:0025248 A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). 2016-12-17T13:56:03Z human_phenotype HP:0025249 Comedo HP:0025249 A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead. 2016-12-17T13:57:50Z Whitehead human_phenotype HP:0025250 Closed comedo HP:0025250 Whitehead https://orcid.org/0000-0002-0736-9199 A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black. 2016-12-17T14:04:52Z Blackhead human_phenotype HP:0025251 Open comedo HP:0025251 Blackhead https://orcid.org/0000-0002-0736-9199 An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. 2016-12-17T14:09:31Z Annulus migrans Benign migratory glossitis Glossitis areata exfoliativa Lingual erythema migrans Wandering rash of the tongue human_phenotype HP:0025252 Geographic tongue HP:0025252 An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. PMID:32119353 An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia. 2016-12-17T14:14:59Z human_phenotype HP:0025253 Claustrophobia HP:0025253 An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable 2016-12-17T14:17:46Z Improved by human_phenotype HP:0025254 Ameliorated by HP:0025254 Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female. 2016-12-17T14:19:29Z Pregnancy relieves symptoms human_phenotype HP:0025255 Ameliorated by pregnancy HP:0025255 Applies to a sign or symptom that is improved or made more bearable by heat (including fever). 2016-12-17T14:20:45Z Heat improves condition Heat improves symptom Fever improves condition human_phenotype HP:0025256 Ameliorated by heat HP:0025256 Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar). 2016-12-17T14:21:33Z human_phenotype HP:0025257 Ameliorated by carbohydrate ingestion HP:0025257 A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. 2016-12-18T01:06:15Z Neck stiffness Stiff neck human_phenotype HP:0025258 Stiff neck HP:0025258 Neck stiffness Stiff neck A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:11:24Z Elbow stiffness Stiff elbow human_phenotype HP:0025259 Stiff elbow HP:0025259 Elbow stiffness Stiff elbow A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:12:32Z Stiff wrist Wrist stiffness human_phenotype HP:0025260 Stiff wrist HP:0025260 Stiff wrist Wrist stiffness A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:13:47Z Finger stiffness Stiff finger human_phenotype HP:0025261 Stiff finger HP:0025261 Finger stiffness Stiff finger A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:15:11Z Hip stiffness Stiff hip human_phenotype HP:0025262 Stiff hip HP:0025262 Hip stiffness Stiff hip A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:16:12Z Knee stiffness Stiff knee human_phenotype HP:0025263 Stiff knee HP:0025263 Knee stiffness Stiff knee A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:17:12Z Ankle stiffness Stiff ankle human_phenotype HP:0025264 Stiff ankle HP:0025264 Ankle stiffness Stiff ankle A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity. 2016-12-18T01:18:04Z Stiff toe Toe stiffness human_phenotype HP:0025265 Stiff toe HP:0025265 Stiff toe Toe stiffness HP:0008480 2016-12-18T01:33:11Z human_phenotype HP:0025266 obsolete Cervical osteoarthritis true HP:0025266 Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. 2016-12-18T13:24:58Z Snore Snores Snoring symptoms human_phenotype HP:0025267 Snoring HP:0025267 Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping. PMID:35216759 Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. 2016-12-18T13:27:31Z Stammering Stuttering human_phenotype HP:0025268 Stuttering HP:0025268 Stammering https://orcid.org/0000-0002-0736-9199 Stuttering A sudden episode of intense fear in a situation where there is no danger or apparent cause. 2016-12-18T13:34:22Z Panic attack human_phenotype HP:0025269 The panic attack is accompanied by symptoms such as palpitations, sweating, and chills or hot flushes. There may be a sensation of dyspnea (feeling out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying. Panic attack HP:0025269 Panic attack Any physiological abnormality of the esophagus. 2016-12-18T13:39:06Z Abnormality of esophagus physiology Abnormality of oesophagus physiology Functional abnormality of the esophagus Functional abnormality of the oesophagus human_phenotype HP:0025270 Abnormal esophagus physiology HP:0025270 Abnormality of oesophagus physiology Functional abnormality of the oesophagus Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. 2016-12-18T13:45:05Z human_phenotype HP:0025271 Esophageal spasms HP:0025271 Symmetrical, blotchy, brownish facial pigmentation. 2016-12-18T13:48:05Z Chloasma Facial melanosis human_phenotype HP:0025272 Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes. Melasma HP:0025272 Inflammation of the Achilles tendon. 2016-12-18T13:52:07Z human_phenotype HP:0025273 Achilles tendonitis HP:0025273 An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. 2016-12-18T13:56:16Z Mature cystic ovarian teratoma human_phenotype HP:0025274 Ovarian dermoid cyst HP:0025274 Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure. 2016-12-18T14:47:04Z human_phenotype HP:0025275 Lateral HP:0025275 Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. 2016-12-18T14:51:16Z human_phenotype HP:0025276 Abnormality of skin adnexa physiology HP:0025276 Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). 2016-12-18T15:12:09Z human_phenotype HP:0025277 Gustatory sweating HP:0025277 Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating). PMID:22798976 Sweating provoked by cold temperature rather than by heat. 2016-12-18T15:16:15Z human_phenotype HP:0025278 Cold-induced sweating HP:0025278 2016-12-18T15:18:09Z human_phenotype HP:0025279 Migratory HP:0025279 A pain characteristic is defined as a subjective category or type of pain. 2016-12-18T15:21:51Z human_phenotype HP:0025280 Pain characteristic HP:0025280 Applied to pain that is described as sharp, i.e., sudden and severe. 2016-12-18T15:23:03Z Stabbing pain human_phenotype HP:0025281 Sharp HP:0025281 Applied to pain that is dull, i.e., not severe but that continues over a long period of time. 2016-12-18T15:23:43Z Dull pain human_phenotype HP:0025282 Dull HP:0025282 Applied to pain that is tender, i.e., elicited by touching the affected body part. 2016-12-18T15:25:03Z human_phenotype HP:0025283 Tender HP:0025283 Applied to pain that wakes the affecting individual from sleep. 2016-12-18T15:26:21Z human_phenotype HP:0025284 Sleep-interrupting HP:0025284 An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe. 2016-12-18T15:29:42Z Exacerbated by human_phenotype HP:0025285 Aggravated by HP:0025285 Applied to a sign or symptom that is aggravated by activity, exertion, or exercise. 2016-12-18T15:30:58Z Aggravated by exercise Aggravated by exertion Worse with activity Worsened by activity human_phenotype HP:0025286 Aggravated by activity HP:0025286 Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs. 2016-12-18T15:34:25Z human_phenotype HP:0025287 Axial HP:0025287 A clinical phenomenon characterized by sleeping longer than what is typical or necessary for a person's age and context, or by recurrent episodes of sleep that intrude upon the waking hours. Excessive sleep is identified through self-reports or observations and may involve prolonged nighttime sleep, frequent daytime naps, or episodes of unintentional sleep. 2025-10-20T16:47:01Z Prolonged sleep duration Sleeping too much human_phenotype HP:0025288 Excessive sleep often occurs even when a person has had adequate nighttime sleep and may be associated with functional impairment, reduced alertness, or dissatisfaction with sleep. Excessive sleep HP:0025288 Enlarged lymph nodes in the neck. 2016-12-18T15:40:35Z Swollen lymph nodes in the neck human_phenotype HP:0025289 Cervical lymphadenopathy HP:0025289 Swollen lymph nodes in the neck Applies to an abnormality that affects the arms, trunk, head more than the legs. 2016-12-18T16:11:12Z human_phenotype HP:0025290 Upper-body predominance HP:0025290 Applies to an abnormality that affects the legs more than the arms, trunk, head. 2016-12-18T16:12:27Z human_phenotype HP:0025291 Lower-body predominance HP:0025291 Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose). 2016-12-18T16:15:24Z human_phenotype HP:0025292 Acral HP:0025292 Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. 2016-12-18T16:16:24Z human_phenotype HP:0025293 Distributed along Blaschko lines HP:0025293 Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body. PMID:17061271 Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. 2016-12-18T16:17:51Z Radicular human_phenotype HP:0025294 This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain. Dermatomal HP:0025294 Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution. PMID:19772560 Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections. 2016-12-18T16:19:13Z human_phenotype HP:0025295 Herpetiform HP:0025295 Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent. 2016-12-18T16:20:14Z human_phenotype HP:0025296 Morbilliform HP:0025296 Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection). 2016-12-18T16:26:30Z human_phenotype HP:0025297 Prolonged HP:0025297 Sleeping for a longer duration than usual during the night. 2025-10-20T16:49:06Z Long nighttime sleep Prolonged nocturnal sleep human_phenotype HP:0025298 Extended nighttime sleep HP:0025298 Regular episodes of sleep that occur during the day outside of the main sleep period. 2025-10-20T16:50:12Z Frequent daytime naps human_phenotype HP:0025299 Frequent napping HP:0025299 An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. 2016-12-20T11:59:38Z Butterfly rash Cheekbone rash human_phenotype HP:0025300 This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis. Malar rash HP:0025300 Applies to an abnormality that occurs in or is exacerbated during the night. 2016-12-20T12:30:06Z human_phenotype HP:0025301 Nocturnal HP:0025301 Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time. 2016-12-20T12:31:12Z human_phenotype HP:0025302 Diurnal HP:0025302 Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurrences are separated by an interval in which the sign, symptom, or manifestation is not present. 2016-12-21T00:51:43Z Now and then human_phenotype HP:0025303 In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence. Episodic HP:0025303 Now and then Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length. 2016-12-21T00:55:09Z Cyclic Cyclical human_phenotype HP:0025304 Periodic HP:0025304 Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours). 2016-12-21T00:57:17Z human_phenotype HP:0025305 Quotidian HP:0025305 Acute appearance of disease manifestations in a period of minutes. 2016-12-21T01:00:35Z human_phenotype HP:0025306 Acute emergence over minutes HP:0025306 Acute appearance of disease manifestations in a period of hours. 2016-12-21T01:01:25Z human_phenotype HP:0025307 Acute emergence over hours HP:0025307 Acute appearance of disease manifestations in a period of days. 2016-12-21T01:01:46Z human_phenotype HP:0025308 Acute emergence over days HP:0025308 A deviation from the normal circular shape of the pupil 2016-12-21T01:08:53Z Irregular pupil human_phenotype HP:0025309 Abnormal pupil shape HP:0025309 Irregular pupil https://orcid.org/0000-0002-0736-9199 An abnormal pupil shape that is elliptical, i.e., egg-like. 2016-12-21T01:11:31Z human_phenotype HP:0025310 Oval pupil HP:0025310 A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material. 2016-12-21T01:32:14Z human_phenotype HP:0025311 Anterior chamber cyst HP:0025311 A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. 2016-12-21T01:43:27Z human_phenotype HP:0025312 Esophoria HP:0025312 A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. 2016-12-21T01:46:52Z human_phenotype HP:0025313 Exophoria HP:0025313 A benign, flat or slightly elevated melanocytic lesions of the posterior uvea with clearly defined margins. Choroidal nevi tend to remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia. 2016-12-21T01:54:28Z human_phenotype HP:0025314 A choroidal nevus can evolve towards choroidal melanoma. Choroidal nevi can be melanotic or amelanotic. Occasionally, they are associated with hyperpigmentation of extra ocular structures such as nevus of Ota or ocular melanosis. Choroidal nevus HP:0025314 Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma. 2016-12-21T02:22:58Z human_phenotype HP:0025315 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma. Exacerbated by head trauma HP:0025315 A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body. 2017-01-13T13:20:56Z human_phenotype HP:0025317 Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller. Cubitus varus HP:0025317 A malignant neoplasm originating from the surface ovarian epithelium. 2017-01-25T14:30:43Z NCIT:C4908 Ovarian epithelial cancer human_phenotype HP:0025318 Ovarian carcinoma HP:0025318 HP:0011497 2017-01-25T14:46:08Z human_phenotype HP:0025319 obsolete Rubeosis iridis true HP:0025319 Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins. 2017-01-25T14:52:18Z Fluorescein leakage human_phenotype HP:0025320 Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid. Leakage of dye on fundus fluorescein angiography HP:0025320 An anomalous build up of copper (Cu) in the liver. 2017-02-03T11:46:21Z Liver copper accumulation human_phenotype HP:0025321 Copper accumulation in liver HP:0025321 Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein. 2017-02-03T12:05:01Z human_phenotype HP:0025322 Venous occlusion HP:0025322 An anomaly of arterial function. 2017-02-03T12:08:38Z human_phenotype HP:0025323 Abnormal arterial physiology HP:0025323 Blockage of blood flow through an artery. 2017-02-03T12:09:18Z human_phenotype HP:0025324 Arterial occlusion HP:0025324 Decreased density/number and/or decreased diameter of medial eyebrow hairs. 2017-02-04T16:43:31Z Medial thinning of eyebrow human_phenotype HP:0025325 Sparse medial eyebrow HP:0025325 Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. 2017-02-04T17:22:01Z Retinal artery occlusion human_phenotype HP:0025326 Retinal artery occlusion can manifest as painless loss of monocular vision. Retinal arterial occlusion HP:0025326 Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. 2017-02-11T10:48:34Z human_phenotype HP:0025327 The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function. Decreased renal parenchymal thickness HP:0025327 Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans. PMID:19254392 PMID:2117353 Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. 2017-02-11T11:09:10Z Antepartum haemorrhage Prepartum haemorrhage Prepartum hemorrhage human_phenotype HP:0025328 Antepartum hemorrhage HP:0025328 Antepartum haemorrhage Prepartum haemorrhage The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. 2017-02-11T11:15:35Z Anti-GAD antibody positivity human_phenotype HP:0025329 The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system. Anti-glutamic acid decarboxylase antibody positivity HP:0025329 The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. PMID:27356651 Anti-GAD antibody positivity A limitation of the ability to direct one's gaze below the horizontal meridian. 2017-02-11T11:41:16Z Downgaze paresis Supranuclear downgaze palsy human_phenotype HP:0025330 Downgaze palsy HP:0025330 A limitation of the ability to direct one's gaze below the horizontal meridian. PMID:8913186 A limitation of the ability to direct one's gaze above the horizontal meridian. 2017-02-11T11:54:20Z Supranuclear upgaze palsy Upgaze paresis human_phenotype HP:0025331 Upgaze palsy HP:0025331 An anomaly of the outer shell (cortex) of a foot bone. 2017-02-11T12:09:16Z Abnormality of the cortex of foot bones human_phenotype HP:0025332 Abnormality of foot cortical bone HP:0025332 A reduction in the thickness of the outer shell (cortex) of foot bones. 2017-02-11T12:10:34Z human_phenotype HP:0025333 Cortical thinning of foot bones HP:0025333 A reduction in the thickness of the outer shell (cortex) of foot bones. PMID:24055421 Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion). 2017-02-12T11:38:35Z Emotion triggered symptoms human_phenotype HP:0025334 Triggered by emotion HP:0025334 A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. 2017-02-12T11:48:00Z human_phenotype HP:0025335 Child can stand in an upright position on both feet, holding onto a stable object (eg, furniture) for at least 10 s without leaning on it. Delayed ability to stand HP:0025335 A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. PMID:23321410 PMID:27354457 A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. 2017-02-12T12:04:58Z human_phenotype HP:0025336 This milestone can be defined as the ability of an infant to sit up straight with head erect for at least 10 s without using arms or hands to balance body or support the position. Delayed ability to sit HP:0025336 A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. PMID:23321410 PMID:27354457 A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. 2017-02-12T12:27:39Z Red eye Red eyes human_phenotype HP:0025337 Red eye HP:0025337 Red eye Red eyes A ring of redness at the limbus of the eye, the border between the cornea and the sclera. 2017-02-12T12:32:14Z Ciliary limbus Circumlimbal hyperaemia human_phenotype HP:0025338 Circumlimbal hyperemia HP:0025338 Circumlimbal hyperaemia Prominence of blood vessels of the superficial episcleral tissues. 2017-02-12T12:45:32Z Superficial episcleral hypaeremia human_phenotype HP:0025339 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. Superficial episcleral hyperemia HP:0025339 Superficial episcleral hypaeremia Prominence of blood vessels of the deep episcleral tissues. 2017-02-12T13:00:24Z Deep episcleral hyperaemia human_phenotype HP:0025340 The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab. Deep episcleral hyperemia HP:0025340 Deep episcleral hyperaemia An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea. 2017-02-12T13:03:48Z human_phenotype HP:0025341 Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely across the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used. Corneal keratic precipitates HP:0025341 Blockage of the main artery in the retina. In the acute phase, the fundus may show cherry red spot and stasis of retinal flow. The typical presentation is one of profound monocular visual loss. 2017-02-12T13:17:04Z human_phenotype HP:0025342 Central retinal artery occlusion can manifest as sudden, acute, and painless loss of vision in one eye. Central vision may be spared if there is patent cilioretinal artery supplying the fovea. Central retinal artery occlusion HP:0025342 Blockage of the main artery in the retina. In the acute phase, the fundus may show cherry red spot and stasis of retinal flow. The typical presentation is one of profound monocular visual loss. PMID:23470793 Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. 2017-02-12T13:19:32Z human_phenotype HP:0025343 Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT). Lupus anticoagulant HP:0025343 Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. PMID:27331311 Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). 2017-02-12T13:44:46Z human_phenotype HP:0025344 In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated. Interlobular bile duct destruction HP:0025344 Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). PMID:16177252 Any deviation from the normal concentration of beta-2-microglobulin in the blood circulation. 2017-02-12T13:50:53Z Abnormal beta-2-microglobulin level Abnormal circulating beta-2-microglobulin concentration Abnormality of circulating B2M level Abnormality of circulating beta2 microglobulin level Abnormality of circulating beta2-m level Abnormality of circulating beta2m level human_phenotype HP:0025345 Abnormal circulating beta-2-microglobulin concentration HP:0025345 Abnormality of circulating B2M level Abnormality of circulating beta2-m level Abnormality of circulating beta2m level The concentration of beta-2-microglobulin in the blood circulation is above the upper limit of normal. 2017-02-12T13:53:51Z Elevated beta-2-microglobulin concentration Elevated beta-2-microglobulin level Elevated beta-2-microglobulin level in blood Elevated circulating beta-2-microglobulin concentration Elevated circulating beta-2-microglobulin level Increased beta-2-microglobulin concentration Increased beta-2-microglobulin level Increased beta-2-microglobulin level in blood human_phenotype HP:0025346 Elevated circulating beta-2-microglobulin concentration HP:0025346 The concentration of beta-2-microglobulin in the blood circulation is below the lower limit of normal. 2017-02-12T13:54:52Z Decreased beta-2-microglobulin concentration Decreased beta-2-microglobulin level Decreased beta-2-microglobulin level in blood Decreased circulating beta-2-microglobulin concentration Reduced beta-2-microglobulin concentration Reduced beta-2-microglobulin level Reduced beta-2-microglobulin level in blood Reduced circulating beta-2-microglobulin level human_phenotype HP:0025347 Decreased circulating beta-2-microglobulin concentration HP:0025347 An anomaly of the margin of the cornea overlapped by the sclera. 2017-02-12T23:58:19Z Abnormality of the corneal limbus human_phenotype HP:0025348 Abnormal corneal limbus morphology HP:0025348 Swelling of the margin of the cornea overlapped by the sclera. 2017-02-12T23:59:31Z Limbal oedema human_phenotype HP:0025349 Limbal edema HP:0025349 Limbal oedema Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. 2017-02-13T00:05:03Z human_phenotype HP:0025350 Giant conjunctival papillae HP:0025350 Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein. PMID:26278858 A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers. 2017-02-13T00:11:13Z Recurrent interdigital tinea human_phenotype HP:0025351 Recurrent interdigital mycosis HP:0025351 Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. 2017-02-13T00:19:00Z Autosomal dominant germline de novo mutation human_phenotype HP:0025352 Typically de novo HP:0025352 Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals. PMID:22805709 A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. 2017-02-13T00:25:10Z Anti-MND antibodies human_phenotype HP:0025353 Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions. Anti-sp100 antibodies are directed against sp100 antigen found within nuclear bodies; large protein complexes in the nucleus that may have a role in cell growth and differentiation. Anti-sp100 antibodies are found in approximately 20-30% of patients diagnosed with primary biliary cirrhosis (PBC). Anti-multiple nuclear dots antibody positivity HP:0025353 A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells. PMID:11882049 PMID:12848948 Anti-MND antibodies An anomaly of cellular morphology or physiology. 2017-02-13T00:29:35Z human_phenotype HP:0025354 Abnormal cellular phenotype HP:0025354 Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative. 2017-02-13T00:33:08Z human_phenotype HP:0025355 Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography. They are usually associated with systemic hypertension and embolic diseases. Retinal arteriolar macroaneurysms HP:0025355 HP:0001263 2017-02-17T11:43:42Z human_phenotype HP:0025356 obsolete Psychomotor retardation true HP:0025356 A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. 2017-02-17T12:01:58Z Fragmentary myoclonus human_phenotype HP:0025357 Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. Erratic myoclonus HP:0025357 Presence of iris pigment epithelium on the anterior surface of the iris. 2017-02-17T12:10:49Z Ectropion uveae human_phenotype HP:0025358 Uveal ectropion HP:0025358 An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance). 2017-02-17T12:14:46Z Polygonal calices Polygonal-shaped calices human_phenotype HP:0025359 Polygonal renal calices HP:0025359 Increased number of calices of the kidney. 2017-02-17T12:17:58Z human_phenotype HP:0025360 Polycalycosis HP:0025360 Increased number of calices of the kidney. PMID:19002724 A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. 2017-02-20T13:15:23Z Abnormality of medullary pyramid morphology human_phenotype HP:0025361 Abnormal medullary pyramid morphology HP:0025361 Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. 2017-02-20T13:16:42Z Hypoplasia of the medullary pyramids human_phenotype HP:0025362 Renal medullary pyramid hypoplasia HP:0025362 Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. PMID:16293636 Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. 2017-02-20T13:33:20Z Endocapillary hypercellularity human_phenotype HP:0025363 The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium. Glomerular endocapillary hypercellularity HP:0025363 Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina. PMID:19571790 PMID:32866505 Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells. 2017-02-20T14:07:24Z Extracapillary glomerular hypercellularity Extracapillary hypercellularity human_phenotype HP:0025364 Glomerular extracapillary hypercellularity HP:0025364 A condition in which the intrinsic circadian rhythm is no longer entrained to the 24-h schedule. Normal individuals who are exposed to an environment devoid of zeitgebers develop free-running rhythms with a period longer than 24 h. 2025-10-20T17:07:13Z Non-24 sleep pattern human_phenotype HP:0025365 Free-running sleep pattern HP:0025365 A condition in which the intrinsic circadian rhythm is no longer entrained to the 24-h schedule. Normal individuals who are exposed to an environment devoid of zeitgebers develop free-running rhythms with a period longer than 24 h. PMID:21344043 A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. 2017-02-20T14:24:28Z human_phenotype HP:0025367 Trichoepithelioma HP:0025367 A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone). 2017-02-20T14:32:08Z Abnormality of growth plate morphology human_phenotype HP:0025368 Abnormal growth plate morphology HP:0025368 Increased thickness (dimension along the axis of the bone) of the growth plate. 2017-02-20T14:40:12Z human_phenotype HP:0025369 Thick growth plates HP:0025369 Abnormal bone tissue formation (ossification) affecting the sacrum. 2017-02-20T14:45:33Z human_phenotype HP:0025370 Abnormal ossification of the sacrum HP:0025370 Formation of the sacrum bone tissue occurs later than age-adjusted norms. 2017-02-20T14:47:07Z human_phenotype HP:0025371 Delayed ossification of the sacrum HP:0025371 Snoring at a particularly loud or abnormally high volume. 2017-03-15T11:53:28Z Has loud snoring Have loud snoring Heavy snoring Snores loudly human_phenotype HP:0025372 The NREM stages of sleep are not skipped. Loud snoring HP:0025372 Snoring at a particularly loud or abnormally high volume. PMID:36592569 Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. 2017-03-15T13:25:46Z human_phenotype HP:0025373 Interictal EEG abnormality HP:0025373 Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. PMID:15961864 PMID:25012363 The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates. 2017-04-08T13:00:41Z human_phenotype HP:0025374 The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of a lack of fusion of these two centers of ossification [from PMID:9367321]. Duplicated odontoid process HP:0025374 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus. 2017-04-08T13:10:36Z human_phenotype HP:0025375 Orthotopic os odontoideum HP:0025375 An increased concentration of glutamine in the urine. 2017-04-08T13:20:10Z Glutamine high in urine Glutaminuria human_phenotype HP:0025376 Hyperglutaminuria HP:0025376 An increased concentration of glutamine in the urine. PMID:11283793 Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise. 2017-04-08T13:36:52Z Exertion triggered symptoms Triggered by physical exercise human_phenotype HP:0025377 For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equivalent to the combination of the basis term and this modifier. Triggered by exertion HP:0025377 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. 2017-04-20T10:42:32Z Anti-TPO antibody positivity Antimicrosomal antibodies Antimicrosomal antibody positivity TPOAbs human_phenotype HP:0025379 Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease. Anti-thyroid peroxidase antibody positivity HP:0025379 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. PMID:33144894 PMID:33796145 https://orcid.org/0000-0002-3387-1836 Anti-TPO antibody positivity TPOAbs Increased concentration of androstenedione in the blood circulation. 2017-04-20T10:48:45Z Increased serum androstenedione human_phenotype HP:0025380 4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads. Increased circulating androstenedione concentration HP:0025380 Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. 2017-04-20T10:52:38Z human_phenotype HP:0025381 The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue. Anti-pituitary antibody positivity HP:0025381 Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function. PMID:17341554 Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. 2017-04-20T11:10:08Z human_phenotype HP:0025382 Hypodipsia HP:0025382 Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake. PMID:25949488 An area of fat accumulation at the back of the neck in the form of a hump. 2017-04-21T11:39:02Z Buffalo hump human_phenotype HP:0025383 Dorsocervical fat pad HP:0025383 An area of fat accumulation at the back of the neck in the form of a hump. PMID:22301856 Buffalo hump Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. 2017-04-21T11:45:42Z human_phenotype HP:0025384 In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure. Diet-resistant subcutaneous adipose tissue HP:0025384 Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. PMID:22301856 Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery. 2017-04-21T11:55:24Z human_phenotype HP:0025385 Diet-resistant subcutaneous adipose tissue below waist HP:0025385 Depression of profile in both temporal regions. 2017-04-21T12:00:17Z human_phenotype HP:0025386 Bitemporal hollowing HP:0025386 A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. 2017-04-21T12:11:32Z Pill rolling human_phenotype HP:0025387 The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together. Pill-rolling tremor HP:0025387 A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. 2017-04-22T11:06:53Z human_phenotype HP:0025388 The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer. Thyroid nodule HP:0025388 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. 2017-04-22T12:46:42Z Pulmonary interstitiatial HRCT abnormality human_phenotype HP:0025389 Pulmonary interstitial high-resolution computed tomography abnormality HP:0025389 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities. PMID:23247773 Pulmonary interstitiatial HRCT abnormality On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. 2017-04-22T12:55:23Z human_phenotype HP:0025390 The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis Reticular pattern on pulmonary HRCT HP:0025390 On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh. PMID:23247773 The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. 2017-04-22T12:57:46Z HP:0033659 Crazy paving pattern on pulmonary HRCT Crazy-paving pattern human_phenotype HP:0025391 See Figure 20 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Crazy paving pattern HP:0025391 The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia. PMID:18195376 PMID:23247773 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. 2017-04-22T12:59:43Z human_phenotype HP:0025392 Nodular pattern on pulmonary HRCT HP:0025392 A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. PMID:23247773 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. 2017-04-22T13:02:17Z human_phenotype HP:0025393 Reticulonodular pattern on pulmonary HRCT HP:0025393 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. PMID:23247773 On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. 2017-04-22T13:03:59Z human_phenotype HP:0025394 Cystic pattern on pulmonary HRCT HP:0025394 On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. PMID:23247773 Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, 2017-04-22T13:05:42Z human_phenotype HP:0025395 Combined cystic and ground-glass pattern on pulmonary HRCT HP:0025395 Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, PMID:23247773 Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. 2017-04-22T13:08:16Z Black lung pattern on pulmonary HRCT human_phenotype HP:0025396 Decreased attenuation pattern on pulmonary HRCT HP:0025396 Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography. PMID:23247773 A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. 2017-04-22T13:10:01Z human_phenotype HP:0025397 Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease. Mosaic attenuation pattern on pulmonary HRCT HP:0025397 A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography. PMID:23247773 A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. 2017-04-22T13:12:36Z human_phenotype HP:0025398 Nodular-perilymphatic pattern on pulmonary HRCT HP:0025398 A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution. PMID:23247773 A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. 2017-04-22T13:13:21Z human_phenotype HP:0025399 The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes. Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT HP:0025399 A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree. PMID:23247773 A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. 2017-04-22T13:13:45Z human_phenotype HP:0025400 Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT. Nodular-random pattern on pulmonary HRCT HP:0025400 A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern. PMID:23247773 An abnormality in which the eyes are held permanently wide open. 2017-04-22T14:03:28Z Episodes of staring Staring episodes Staring eyes human_phenotype HP:0025401 This is a neurological anomaly that can be observed in Parkinson and certain other diseases. Staring gaze HP:0025401 An abnormality in which the eyes are held permanently wide open. PMID:22675666 Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. 2017-04-22T14:07:11Z human_phenotype HP:0025402 Square-wave jerks HP:0025402 Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. PMID:6443573 A habitual positioning of the body with the head and upper back bent forward. 2017-04-22T14:18:27Z human_phenotype HP:0025403 Stooped posture HP:0025403 Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. 2017-04-22T14:29:49Z human_phenotype HP:0025404 Abnormal visual fixation HP:0025404 A deficit in the ability to fixate eye movements in order to stabilize images on the retina 2017-04-22T14:31:07Z Instability of ocular fixation human_phenotype HP:0025405 Eye movements are made several times a second to place and hold images of objects of interest onto the central part of the retina, the fovea, where visual acuity is best. These eye movements fall into two main classes. Saccades are fast and brief movements, reaching peak speeds of hundreds of degrees per second and lasting only tens of milliseconds that quickly shift new visual images to the fovea. Smooth pursuit eye movements are slow and continuous, steadily rotating the eyes to track any motion of the visual target, minimizing the retinal slip and the resulting blur that might otherwise reduce spatial acuity. Between these movements, the eyes are held relatively still. These periods of steady fixation are the result of a dynamic process that appears to be actively controlled by many of the same brain structures involved in the generation of goal-directed eye movements. Visual fixation instability HP:0025405 A deficit in the ability to fixate eye movements in order to stabilize images on the retina PMID:28242738 A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. 2017-04-22T14:48:03Z Lack of energy and strength Weakness human_phenotype Prostration HP:0025406 Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles. Asthenia and fatigue can coexist. Asthenia HP:0025406 Lack of energy and strength Weakness An abnormal connection (fistula) between the rectum and the urethra. 2017-04-23T10:24:54Z Urethrorectal fistula human_phenotype HP:0025407 Rectourethral fistula HP:0025407 Any anomaly of the structure of the spleen. 2017-04-23T10:55:52Z human_phenotype Splenic lesion HP:0025408 Abnormal spleen morphology HP:0025408 Any anomaly of the function of the spleen. 2017-04-23T10:56:59Z human_phenotype HP:0025409 Abnormal spleen physiology HP:0025409 Joining of the spleen and a gonad during embryological development. 2017-04-23T10:58:17Z human_phenotype HP:0025410 The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue. Splenogonadal fusion HP:0025410 Joining of the spleen and a gonad during embryological development. PMID:24137272 A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. 2017-04-23T11:16:18Z human_phenotype HP:0025413 The fossa navicularis is the small normal dilatation of the distal penile urethra. Fossa navicularis urethral stricture HP:0025413 A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis. PMID:22022062 A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. 2017-04-23T11:17:06Z human_phenotype HP:0025414 Pendulous urethral stricture HP:0025414 A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa. PMID:22022062 A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis. 2017-04-23T11:17:53Z human_phenotype HP:0025415 Bulbar urethral stricture HP:0025415 A narrowing of the vagina owing to scar formation. 2017-04-23T11:24:25Z human_phenotype HP:0025416 Vaginal stricture HP:0025416 Urethra more open or expanded than normal. 2017-04-23T11:39:39Z human_phenotype HP:0025417 Patulous urethra HP:0025417 Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. 2017-04-23T11:45:23Z Necrosis of the kidney cortex human_phenotype HP:0025418 Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. Cortical necrosis commonly manifests clinically as a rapid loss of glomerular filtration rate, often with oliguria, granular casts, and low-level proteinuria. The key diagnostic features of renal cortical necrosis are (i) pale tissue with typical appearance of coagulative necrosis, affecting both tubules and glomeruli; (ii) pyknotic nuclei; and (iii) simplified, flattened epithelium of proximal tubules. Renal cortical necrosis HP:0025418 Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct. PMID:26558184 PMID:27091021 A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. 2017-04-23T11:52:30Z Pulmonary pneumatocoele human_phenotype HP:0025419 See Figure 52 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary pneumatocele HP:0025419 A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. PMID:18195376 Pulmonary pneumatocoele A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. 2017-04-23T12:16:52Z Diffuse alveolar haemorrhage human_phenotype HP:0025420 Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates. Diffuse alveolar hemorrhage HP:0025420 A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. PMID:23678356 Diffuse alveolar haemorrhage The presence of free air in the mediastinum. 2017-04-23T12:21:33Z human_phenotype HP:0025421 Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls. Pneumomediastinum HP:0025421 The presence of free air in the mediastinum. PMID:28217437 A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. 2017-04-23T12:33:15Z human_phenotype HP:0025422 Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst. Pleural cyst HP:0025422 A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance. PMID:12162234 PMID:18493546 Any anomaly of the structure of the larynx. 2017-04-23T12:44:49Z human_phenotype HP:0025423 Abnormal larynx morphology HP:0025423 Any anomaly of the function of the larynx. 2017-04-23T12:46:36Z human_phenotype HP:0025424 Abnormal larynx physiology HP:0025424 A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. 2017-04-23T12:48:07Z human_phenotype HP:0025425 Laryngospasm HP:0025425 Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. 2017-04-23T12:50:43Z HP:0002109 Abnormality of the bronchi human_phenotype HP:0025426 Abnormal bronchus morphology HP:0025426 Any anomaly of the function of the bronchi. 2017-04-23T12:51:32Z human_phenotype HP:0025427 Abnormal bronchus physiology HP:0025427 HP:4000007 2017-04-23T12:52:53Z human_phenotype HP:0025428 obsolete Bronchospasm true HP:0025428 Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. 2017-04-23T12:56:52Z human_phenotype HP:0025429 Abnormal cry HP:0025429 A type of crying in an abnormally high-pitched voice. 2017-04-23T12:59:43Z human_phenotype HP:0025430 This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome. High-pitched cry HP:0025430 A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. 2017-04-23T13:07:13Z human_phenotype HP:0025431 Staccato cry HP:0025431 A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm. 2017-04-23T15:58:05Z human_phenotype HP:0025432 Acanthoma HP:0025432 Reduced level of the enzyme lecithin cholesterol acyl transferase. 2017-04-23T16:31:33Z human_phenotype HP:0025433 Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). Decreased lecithin cholesterol acyl transferase level HP:0025433 Reduced level of the enzyme lecithin cholesterol acyl transferase. PMID:25172171 A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. 2017-04-23T16:53:06Z HP:0031906 Decreased total hemolytic complement activity Reduced CH50 Reduced circulating 50% hemolytic complement (CH50) activity Reduced hemolytic complement activity human_phenotype HP:0025434 Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased. Reduced circulating CH50 activity HP:0025434 A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. PMID:20351687 An elevated level of the enzyme lactate dehydrogenase in the blood circulation. 2017-04-23T17:11:02Z Increased circulating LDH concentration Increased lactate dehydrogenase level human_phenotype HP:0025435 Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. Increased circulating lactate dehydrogenase concentration HP:0025435 Increased circulating LDH concentration Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. 2017-04-23T17:22:34Z Elevated serum 21-hydroxyprogesterone Elevated serum deoxycorticosterone human_phenotype HP:0025436 Elevated serum 11-deoxycortisol HP:0025436 Increased size of the head of sperm. 2017-04-23T17:25:02Z Macrocephalic sperm head human_phenotype HP:0025437 Macrozoospermia HP:0025437 Increased size of the head of sperm. PMID:16500351 Inflammation (due to infection or irritation) of the pharynx. 2017-04-24T00:03:24Z human_phenotype HP:0025439 Pharyngitis HP:0025439 Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. 2017-04-24T00:16:58Z human_phenotype HP:0025440 Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally. Warm reactive autoantibody positivity HP:0025440 Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C. PMID:15491963 Ectopic deposition of calcium salts in the Achilles tendon. 2017-04-24T00:51:04Z Calcification of the Achilles tendon human_phenotype HP:0025441 Achilles tendon calcification HP:0025441 An abnormality of the function of the cardiac atria. 2017-04-29T17:10:13Z human_phenotype HP:0025443 Abnormal cardiac atrial physiology HP:0025443 A decrease in the volume (size) of the amygdyla. 2017-04-29T21:34:14Z Decrease in amygdala volume human_phenotype HP:0025444 Reduced amygdala volume HP:0025444 Any structural anomaly of the papillary muscles of the left ventricle. 2017-04-30T10:43:49Z Morphological abnormality of the papillary muscles human_phenotype HP:0025445 There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole. Abnormal papillary muscle morphology HP:0025445 Any structural anomaly of the papillary muscles of the left ventricle. PMID:9034636 A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. 2017-04-30T10:50:30Z human_phenotype HP:0025446 This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction. Anomalous insertion of papillary muscle directly into anterior mitral leaflet HP:0025446 A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet. PMID:1884449 Abnormal location of the insertion of a papillary muscle into the left ventricular wall. 2017-04-30T10:59:28Z human_phenotype HP:0025447 Displacement of the papillary muscles HP:0025447 Abnormally anterior location of the papillary muscles of the left ventricle. 2017-04-30T11:00:35Z Anteriorly displaced papillary muscles human_phenotype HP:0025448 Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958]. Anterior displacement of the papillary muscles HP:0025448 Abnormally anterior location of the papillary muscles of the left ventricle. PMID:7850958 Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, 2017-04-30T11:02:45Z Apically displaced papillary muscles human_phenotype HP:0025449 Apically displaced anterolateral papillary muscle HP:0025449 Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. 2017-05-04T10:21:37Z Testicular adrenal rest tumour human_phenotype HP:0025451 Testicular adrenal rest tumor HP:0025451 Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. PMID:19956703 Testicular adrenal rest tumour A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. 2017-05-04T10:30:38Z human_phenotype HP:0025452 Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and hematological malignancies. Pyoderma gangrenosum HP:0025452 A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. PMID:16858047 Occurrence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. 2017-05-04T10:41:47Z human_phenotype HP:0025453 Delayed adrenarche HP:0025453 Occurrence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development. PMID:10414639 Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid. 2017-05-05T10:24:32Z HP:0032207 Abnormal CSF metabolite level Abnormal cerebrospinal fluid metabolite concentration human_phenotype HP:0025454 Abnormal CSF metabolite concentration HP:0025454 Abnormal CSF metabolite level 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2017-05-05T10:26:09Z Decreased CSF 5-HIAA Low CSF 5-HIAA Low CSF 5-hydroxyindolacetic acid human_phenotype HP:0025455 Decreased CSF 5-hydroxyindolacetic acid concentration HP:0025455 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal. PMID:27388694 https://orcid.org/0000-0003-0169-8159 Decreased CSF 5-HIAA Low CSF 5-HIAA Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. 2017-05-05T10:32:59Z Abnormal CSF protein level human_phenotype HP:0025456 Abnormal CSF protein concentration HP:0025456 CSF total protein level is below the lower limit of normal. 2017-05-05T10:34:12Z Decreased CSF protein Decreased cerebrospinal fluid total protein Hypoproteinorrhachia Low CSF total protein human_phenotype HP:0025457 Decreased CSF protein concentration HP:0025457 CSF total protein level is below the lower limit of normal. PMID:27388694 https://orcid.org/0000-0003-0169-8159 Low CSF total protein CSF albumin level is below the lower limit of normal. 2017-05-05T10:46:15Z Low CSF albumin human_phenotype HP:0025458 Decreased CSF albumin concentration HP:0025458 CSF albumin level is below the lower limit of normal. PMID:27388694 https://orcid.org/0000-0003-0169-8159 Low CSF albumin An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. 2017-05-05T10:50:18Z human_phenotype HP:0025459 Increased CSF/serum albumin ratio HP:0025459 An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). 2017-05-05T10:59:49Z High myo-inositol in brain by MRS human_phenotype HP:0025460 Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors. High myoinositol in brain by MRS HP:0025460 An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). PMID:20951217 https://orcid.org/0000-0003-0169-8159 Any anomaly of cell structure. 2017-05-07T11:14:54Z human_phenotype HP:0025461 Abnormal cell morphology HP:0025461 HP:0011017 2017-05-07T11:16:16Z human_phenotype HP:0025462 obsolete Abnormal cellular physiology true HP:0025462 An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions. 2017-05-07T11:17:15Z human_phenotype HP:0025463 Abnormality of redox activity HP:0025463 An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. 2017-05-07T11:19:52Z Increased ROS production human_phenotype Oxidative stress HP:0025464 Increased reactive oxygen species production HP:0025464 An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage. PMID:26950655 Increased ROS production Any deviation from the normal concentration of beta globulin in the blood circulation. 2017-05-07T11:35:19Z human_phenotype HP:0025465 The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins. The beta globulins are a group of globular (globe-shaped) proteins in blood. Abnormal circulating beta globulin concentration HP:0025465 Increased level of beta 2-microglobulins in the urine. 2017-05-07T11:50:10Z human_phenotype HP:0025466 Beta 2-microglobulinuria HP:0025466 An abnormal loss of anagen (growth phase) hairs. 2017-05-14T11:20:58Z human_phenotype HP:0025469 Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head. Anagen effluvium HP:0025469 An abnormal loss of anagen (growth phase) hairs. PMID:28332382 A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles. 2017-05-14T11:23:33Z human_phenotype HP:0025470 Telogen effluvium HP:0025470 A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. 2017-05-14T11:57:54Z human_phenotype HP:0025471 Congenital panfollicular nevus HP:0025471 A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation. PMID:26822169 A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching. 2017-05-14T12:31:56Z human_phenotype HP:0025472 Recurrent plantar mycosis HP:0025472 A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. 2017-05-14T12:34:40Z human_phenotype HP:0025473 Hyperpigmented papule HP:0025473 A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. 2017-05-14T12:38:07Z human_phenotype Violaceous plaque HP:0025474 Erythematous plaque HP:0025474 A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. 2017-05-14T12:43:04Z human_phenotype HP:0025475 Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous. Erythematous macule HP:0025475 Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm. 2017-05-14T12:49:41Z human_phenotype HP:0025476 Testicular lipomatosis may be a sign of Cowden disease. Testicular lipomatosis HP:0025476 Calcified deposits in soft tissue structures outside a joint. 2017-05-14T13:23:02Z human_phenotype HP:0025477 Periarticular calcification HP:0025477 Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. 2017-05-14T13:28:03Z Silent atrium human_phenotype HP:0025478 Atrial standstill HP:0025478 Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. PMID:23074623 A pathological neglect of personal needs and well-being that includes attending to self-grooming, personal care and the attention to cleanliness of personal space. 2017-05-14T13:39:41Z human_phenotype HP:0025479 Self-neglect HP:0025479 A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft. 2017-05-14T13:52:18Z human_phenotype HP:0025480 Lipomyelomeningocele HP:0025480 Absence of one half of the vertebral body in the cervical spine. 2017-05-14T13:58:48Z human_phenotype HP:0025481 Cervical hemivertebrae HP:0025481 An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. 2017-05-14T16:04:53Z human_phenotype HP:0025482 Individuals with Pendred syndrome may show a positive perchlorate discharge test. Positive perchlorate discharge test HP:0025482 An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. PMID:25394566 Any deviation from the normal concentration of thyroglobulin in the blood circulation. 2017-05-14T16:14:10Z Abnormal circulating thyroglobulin concentration Abnormal circulating thyroglobulin level Abnormal thyroglobulin level human_phenotype HP:0025483 Abnormal circulating thyroglobulin concentration HP:0025483 The concentration of thyroglobulin in the blood circulation is above the upper limit of normal. 2017-05-14T16:15:57Z Elevated circulating thyroglobulin concentration Elevated thyroglobulin concentration Elevated thyroglobulin level Elevated thyroglobulin level in blood Increased circulating thyroglobulin level Increased thyroglobulin concentration Increased thyroglobulin level Increased thyroglobulin level in blood human_phenotype HP:0025484 Elevated circulating thyroglobulin concentration HP:0025484 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. 2017-05-14T16:40:27Z human_phenotype HP:0025485 Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma. Vaginal adenosis HP:0025485 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life. PMID:9764164 The outer labia are sealed together. 2017-05-14T17:00:54Z human_phenotype HP:0025486 Fused labia majora HP:0025486 Any structural anomaly of the bladder. 2017-05-14T17:07:03Z Abnormality of bladder morphology human_phenotype HP:0025487 Abnormal bladder morphology HP:0025487 A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. 2017-05-14T17:09:10Z human_phenotype HP:0025488 Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used. Detrusor sphincter dyssynergia HP:0025488 A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. PMID:26904418 A congenital anomaly characterized by the presence of two bladders. 2017-05-14T17:16:59Z human_phenotype HP:0025489 Bladder duplication HP:0025489 A congenital anomaly characterized by the presence of two bladders. PMID:25657554 A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. 2017-05-14T19:08:29Z Intramyocardial coronary artery course human_phenotype HP:0025490 Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death. Myocardial bridging HP:0025490 A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course. PMID:25999138 Narrowing of a vein due to intimal hyperplasia and fibrosis. 2017-05-14T19:22:38Z human_phenotype HP:0025491 Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures. Venous stenosis HP:0025491 A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. 2017-05-14T19:32:33Z human_phenotype HP:0025492 Microcoria HP:0025492 A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. PMID:25772937 Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. 2017-05-14T19:34:38Z human_phenotype HP:0025493 Palmoplantar erythema HP:0025493 Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans 2017-05-14T19:37:34Z human_phenotype HP:0025494 This feature is characteristic of Erdheim Chester disease. Coated aorta HP:0025494 Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans PMID:25017251 Significant luminal narrowing of a long segment of the descending aorta. 2017-05-14T19:49:11Z human_phenotype HP:0025495 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. Descending aorta hypoplasia HP:0025495 Significant luminal narrowing of a long segment of the descending aorta. PMID:12368748 PMID:24516866 Any anomaly of the function of a coronary artery. 2017-05-14T19:58:27Z human_phenotype HP:0025496 Abnormal coronary artery physiology HP:0025496 A brief and sudden narrowing of a coronary artery. 2017-05-14T19:58:57Z Coronary artery vasospasm human_phenotype HP:0025497 Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm. Coronary artery spasm HP:0025497 A brief and sudden narrowing of a coronary artery. PMID:19433770 Absence of ceruloplasmin in the blood. 2017-05-14T20:03:35Z Aceruloplasminaemia human_phenotype HP:0025498 Aceruloplasminemia HP:0025498 Aceruloplasminaemia Obesity with a body mass index of 30 to 34.9 kg per square meter. 2017-05-14T20:06:40Z Obesity grade 1 human_phenotype HP:0025499 Class I obesity HP:0025499 Obesity with a body mass index of 35 to 39.9 kg per square meter. 2017-05-14T20:08:43Z Obesity grade 2 human_phenotype HP:0025500 Class II obesity HP:0025500 Obesity with a body mass index of 40 kg per square meter or higher. 2017-05-14T20:09:17Z Obesity grade 3 human_phenotype HP:0025501 Class III obesity HP:0025501 Increased body weight with a body mass index of 25-29.9 kg per square meter. 2017-05-14T20:12:36Z human_phenotype HP:0025502 Overweight HP:0025502 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. 2017-05-14T22:28:08Z human_phenotype HP:0025503 There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery. Anomalous coronary artery arising from the opposite sinus HP:0025503 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva. PMID:27358682 PMID:28374180 The circumflex coronary artery originates from the right aortic sinus of Valsalva. 2017-05-14T23:16:37Z human_phenotype HP:0025505 Anomalous origin of the circumflex artery from the right sinus of Valsalva HP:0025505 The circumflex coronary artery originates from the right aortic sinus of Valsalva. PMID:25104986 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, 2017-05-14T23:20:37Z Anomalous coronary artery with aortic origin and course between the great arteries human_phenotype HP:0025506 Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery Coronary artery sandwich anomaly HP:0025506 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, PMID:24424336 A papule with yellow color. 2017-05-14T23:29:49Z human_phenotype Yellow-orange papule HP:0025507 The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange. Yellow papule HP:0025507 Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. 2017-05-14T23:39:07Z Gottron papules human_phenotype HP:0025508 Gottron's papules HP:0025508 Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints. PMID:28058540 Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. 2017-05-14T23:43:34Z human_phenotype HP:0025509 Piezogenic pedal papules HP:0025509 A tan, regularly bordered patch with darker macules within the lesion. 2017-05-15T00:49:05Z Speckled lentiginous Nevus human_phenotype HP:0025510 Nevus spilus HP:0025510 A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood. 2017-05-15T00:51:20Z human_phenotype HP:0025511 Nevus sebaceus HP:0025511 A papule with the same color as the surrounding skin. 2017-05-15T01:07:06Z Flesh-colored papule human_phenotype HP:0025512 Skin-colored papule HP:0025512 A papule with the same color as the surrounding skin. PMID:15686304 Breakage of the sclera. 2017-05-15T01:54:50Z human_phenotype HP:0025513 Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva. Scleral rupture HP:0025513 An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. 2017-05-15T02:00:59Z Morning glory disc anomaly Morning glory disk anomaly Morning glory optic disc human_phenotype HP:0025514 The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower. Morning glory anomaly HP:0025514 Morning glory disc anomaly Later than normal development of the breasts. 2017-05-15T02:12:37Z human_phenotype HP:0025515 Delayed thelarche HP:0025515 A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. 2017-05-16T01:14:11Z human_phenotype HP:0025516 Coronary-pulmonary artery fistula HP:0025516 A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. PMID:24605242 Underdevelopment of the hippocampus. 2017-05-16T22:42:57Z Small hippocampus Underdeveloped hippocampus human_phenotype HP:0025517 Hypoplastic hippocampus HP:0025517 Small hippocampus An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion. 2017-05-17T01:15:33Z human_phenotype HP:0025518 With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head maneuver) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding. Visual gaze preference HP:0025518 Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. 2017-05-17T12:34:24Z Multiple bile duct hamartomas Von Meyenburg complexes human_phenotype Biliary hamartoma HP:0025519 Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma. Multiple biliary hamartomas HP:0025519 Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver. PMID:22110302 Deposition of calcium in the skin. 2017-05-17T22:39:47Z Cutaneous calcification human_phenotype HP:0025520 The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, especially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin. Calcinosis cutis HP:0025520 The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males. 2017-05-17T22:56:46Z human_phenotype HP:0025521 Increased body fat percentage HP:0025521 Abnormal increased in length of the chordae tendinae of the mitral valve. 2017-05-17T23:42:26Z human_phenotype HP:0025522 Elongated chordae tendinae of the mitral valve HP:0025522 A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. 2017-05-17T23:44:02Z human_phenotype HP:0025523 Abnormal morphology of the chordae tendinae of the mitral valve HP:0025523 A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve. PMID:23304176 Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. 2017-05-17T23:50:31Z human_phenotype Palmoplantar psoriasis HP:0025524 Palmoplantar scaling skin HP:0025524 Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. PMID:26990340 Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. 2017-05-17T23:53:56Z human_phenotype HP:0025525 Scaling skin on fingertip HP:0025525 A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. 2017-05-17T23:58:25Z Psoriatic-like lesion human_phenotype Erythemato-squamous plaque Erythematosquamous plaque HP:0025526 Psoriasiform lesion HP:0025526 A skin lesion with a snake- or serpent-like distribution. 2017-05-18T00:05:10Z Serpiginous eruption human_phenotype HP:0025527 Serpiginous cutaneous lesion HP:0025527 A lesion of the skin with a ring-like distribution. 2017-05-18T00:14:03Z human_phenotype HP:0025528 Annular cutaneous lesion HP:0025528 A nodule of the skin that exhibits an increased amount of pigmentation. 2017-05-18T00:19:15Z human_phenotype HP:0025529 Hyperpigmented nodule HP:0025529 The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. 2017-05-18T00:34:15Z Xanthoma palmare striatum Xanthoma striatum palmare human_phenotype HP:0025530 Xanthomas of the palmar creases HP:0025530 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. 2017-05-18T00:38:26Z human_phenotype HP:0025531 The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn. Harlequin phenomenon HP:0025531 The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body. PMID:21575077 With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result. 2017-05-18T00:41:57Z human_phenotype HP:0025532 A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions. Positive pathergy test HP:0025532 2017-05-18T01:05:51Z human_phenotype HP:0025533 A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange. Peau d'orange HP:0025533 A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. 2017-05-18T01:13:19Z Melanosis oculi Ocular melanosis human_phenotype HP:0025534 In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma. Ocular melanocytosis HP:0025534 Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. 2017-05-18T01:20:11Z human_phenotype HP:0025535 This feature may be observed with dermatomyositis and polymyositis. Shawl sign HP:0025535 Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back. PMID:11730311 Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. 2017-05-18T01:20:44Z human_phenotype HP:0025536 This feature may be observed with dermatomyositis and polymyositis. V-sign HP:0025536 Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest. PMID:11730311 An abnormal accumulation of fluid beneath the skin on sole of the foot. 2017-05-18T01:29:36Z Plantar oedema human_phenotype HP:0025537 Plantar edema HP:0025537 Plantar oedema An abnormal accumulation of fluid beneath the skin on the palm of the hand. 2017-05-18T01:30:09Z Palmar oedema human_phenotype HP:0025538 Palmar edema HP:0025538 Palmar oedema Abnormal increase or decrease of any B cell subpopulation, measured as percentage of total CD19+ or CD20+ B cells in the blood, compared to a reference range for a given sex and age-group. 2017-06-12T15:24:43Z human_phenotype HP:0025539 Abnormal B cell subset distribution HP:0025539 Abnormal increase or decrease of absolute number (either count per volume or percentage of total lymphocytes) of any T cell subpopulation, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. 2017-06-12T15:27:58Z Abnormal alpha-beta T cell morphology human_phenotype HP:0025540 Absolute counts (cells per microliter) and proportions (percentage of lymphocytes or of a parent subset) capture different information, so clinical practice uses whichever is validated for a given decision. Some thresholds are count-based (e.g. Pneumocystis prophylaxis in adults); others rest on a proportion or on both, as in the SCID definition, which combines an absolute T-cell count with a naive-CD4 proportion. The choice is also age-dependent, since absolute counts vary with age more than percentages do, so percentages are often preferred in young children. Because a count equals a proportion multiplied by the total lymphocyte number, the two can dissociate: a normal proportion may accompany a low absolute count when total lymphocytes are low, and that dissociation can itself be informative. Abnormal T cell subset number HP:0025540 2017-06-12T16:25:41Z HP:0005339 human_phenotype HP:0025541 obsolete Decreased activity of complement receptor true HP:0025541 A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. 2017-07-09T12:25:23Z Abnormal MCH Abnormal MCHC Abnormal mean corpuscular Hb concentration Abnormal mean corpuscular haemoglobin Abnormal mean corpuscular haemoglobin concentration human_phenotype HP:0025546 Abnormal mean corpuscular hemoglobin concentration HP:0025546 Abnormal MCH Abnormal MCHC Abnormal mean corpuscular Hb concentration Abnormal mean corpuscular haemoglobin Abnormal mean corpuscular haemoglobin concentration A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. 2017-07-09T12:28:40Z Decreased MCH Decreased MCHC Decreased mean corpuscular Hb concentration Decreased mean corpuscular haemoglobin Decreased mean corpuscular haemoglobin concentration human_phenotype HP:0025547 Decreased mean corpuscular hemoglobin concentration HP:0025547 Decreased MCH Decreased MCHC Decreased mean corpuscular Hb concentration Decreased mean corpuscular haemoglobin Decreased mean corpuscular haemoglobin concentration An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). 2017-07-09T12:29:45Z Increased MCH Increased MCHC Increased mean corpuscular Hb concentration Increased mean corpuscular haemoglobin Increased mean corpuscular haemoglobin concentration human_phenotype HP:0025548 Increased mean corpuscular hemoglobin concentration HP:0025548 Increased MCH Increased MCHC Increased mean corpuscular Hb concentration Increased mean corpuscular haemoglobin Increased mean corpuscular haemoglobin concentration A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. 2017-07-09T12:48:35Z Eccentric fixation human_phenotype HP:0025549 A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered). Eccentric visual fixation HP:0025549 A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. https://orcid.org/0000-0003-0986-4123 The concentration of ribitol in the blood circulation is above the upper limit of normal. 2017-07-09T13:01:59Z HP:0034933 Increased circulating ribitol concentration Increased level of ribitol in serum human_phenotype HP:0025550 Elevated circulating ribitol concentration HP:0025550 Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). 2017-07-09T13:10:15Z Optic pathway misrouting Visual pathway misrouting human_phenotype HP:0025551 Optic nerve misrouting HP:0025551 Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding. 2017-07-09T13:14:08Z human_phenotype HP:0025552 Periorbital purpura HP:0025552 Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. 2017-07-09T13:16:35Z Raccoon eyes human_phenotype HP:0025553 Periorbital ecchymosis with tarsal plate sparing HP:0025553 Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate. PMID:20411091 Raccoon eyes A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). 2017-07-09T13:41:25Z human_phenotype HP:0025554 Yellow nodule HP:0025554 A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion). PMID:22223978 Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails. 2017-07-09T13:50:16Z human_phenotype HP:0025555 Periungual teleangiectasia HP:0025555 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. 2017-12-13T12:54:00Z human_phenotype HP:0025558 Lamellar cataract with riders HP:0025558 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens. https://orcid.org/0000-0003-0986-4123 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. 2017-12-13T13:04:32Z human_phenotype HP:0025559 Coronary cataract HP:0025559 A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown. https://orcid.org/0000-0003-0986-4123 Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:00:02Z human_phenotype HP:0025560 Anterior chamber cells HP:0025560 Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 https://orcid.org/0000-0003-0986-4123 Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:15:06Z human_phenotype HP:0025561 Anterior chamber cells grade 1+ HP:0025561 Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:17:41Z human_phenotype HP:0025562 Anterior chamber cells grade 0.5+ HP:0025562 Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:19:21Z human_phenotype HP:0025563 Anterior chamber cells grade 0 HP:0025563 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:21:53Z human_phenotype HP:0025564 Anterior chamber cells grade 2+ HP:0025564 Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:23:54Z human_phenotype HP:0025565 Anterior chamber cells grade 3+ HP:0025565 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. 2017-12-14T13:24:54Z human_phenotype HP:0025566 Anterior chamber cells grade 4+ HP:0025566 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp. PMID:16196117 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. 2017-12-14T13:33:21Z human_phenotype HP:0025567 The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously. Central serous chorioretinopathy HP:0025567 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months. PMID:17662099 HP:0000610 2017-12-14T13:37:50Z human_phenotype HP:0025568 obsolete Abnormal morphology of the choroidal vasculature true HP:0025568 The presence of aneurysmal 'polypoidal' lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. 2017-12-14T13:39:58Z human_phenotype HP:0025569 The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation. Polypoidal choroidal vasculopathy HP:0025569 The presence of aneurysmal 'polypoidal' lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization. PMID:24653824 Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). 2017-12-14T13:49:33Z Choroidal hyperpermeability human_phenotype HP:0025570 Choroidal vascular hyperpermeability HP:0025570 Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA). PMID:25709392 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. 2017-12-14T13:58:00Z human_phenotype HP:0025571 Christmas tree cataract HP:0025571 A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree. PMID:27190856 Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. 2017-12-14T14:21:45Z Lacrimal punctum stenosis Stenosis of the lacrimal punctum human_phenotype HP:0025572 Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort. Punctal stenosis HP:0025572 Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. PMID:22848141 A mild form of myopia with up to -3.00 diopters. 2017-12-14T14:38:05Z human_phenotype HP:0025573 Mild myopia HP:0025573 A mild form of myopia with up to -3.00 diopters. https://orcid.org/0000-0003-0986-4123 Bleeding occurring within the macula lutea of the retina. 2017-12-15T14:47:24Z Macular haemorrhage human_phenotype HP:0025574 Macular hemorrhage HP:0025574 Macular haemorrhage Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. 2017-12-15T23:00:56Z Fyler:2820 human_phenotype HP:0025575 Abnormal superior vena cava morphology HP:0025575 Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart. MP:0006064 Any structural anomaly of the principal vein draining blood from the lower portion of the body. 2017-12-15T23:02:17Z Fyler:2810 human_phenotype HP:0025576 Abnormal inferior vena cava morphology HP:0025576 Any structural anomaly of the principal vein draining blood from the lower portion of the body. MP:0006063 Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. 2017-12-15T23:47:17Z Fyler:1452 human_phenotype HP:0025578 Aortic valve prolapse HP:0025578 Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus. PMID:4015927 Any structural abnormality of the left atrium. 2017-12-15T23:54:09Z Fyler:3010 human_phenotype HP:0025579 Abnormal left atrium morphology HP:0025579 Any structural abnormality of the right atrium. 2017-12-15T23:56:01Z Fyler:1770 human_phenotype HP:0025580 Abnormal right atrium morphology HP:0025580 Bleeding occurring within the fovea. 2018-01-13T19:21:30Z Foveal haemorrhage human_phenotype HP:0025581 Foveal hemorrhage HP:0025581 Bleeding occurring within the fovea. https://orcid.org/0000-0003-0986-4123 Foveal haemorrhage Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. 2018-01-13T19:25:19Z Sub-macular haemorrhage Sub-macular hemorrhage Submacular haemorrhage human_phenotype HP:0025582 Submacular hemorrhage HP:0025582 Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation. PMID:23202390 https://orcid.org/0000-0003-0986-4123 Sub-macular haemorrhage Submacular haemorrhage Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals. 2018-01-13T19:32:18Z human_phenotype HP:0025583 This appearance is typically seen in female carriers of X-linked RP associated mutations. Tapetal-like fundal reflex HP:0025583 A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. 2018-01-13T19:39:59Z human_phenotype HP:0025584 Hypotropia HP:0025584 A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. https://orcid.org/0000-0003-0986-4123 Tendency for the visual axis of one eye to be higher than that of the other. 2018-01-13T19:42:23Z human_phenotype HP:0025585 Hyperphoria HP:0025585 Tendency for the visual axis of one eye to be higher than that of the other. https://orcid.org/0000-0003-0986-4123 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. 2018-01-13T19:44:01Z human_phenotype HP:0025586 Hypertropia HP:0025586 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. https://orcid.org/0000-0003-0986-4123 A type of strabismus in which the visual axis of one eye is higher than that of the other. 2018-01-13T19:45:45Z human_phenotype HP:0025587 Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions. Hyperdeviation HP:0025587 A type of strabismus in which the visual axis of one eye is higher than that of the other. https://orcid.org/0000-0003-0986-4123 A type of strabismus in which the visual axis of one eye is lower than that of the other. 2018-01-13T19:50:55Z human_phenotype HP:0025588 Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions. Hypodeviation HP:0025588 A type of strabismus in which the visual axis of one eye is lower than that of the other. https://orcid.org/0000-0003-0986-4123 Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. 2018-01-13T19:57:49Z human_phenotype HP:0025589 Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern. Cyclodeviation HP:0025589 Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes. PMID:15731772 https://orcid.org/0000-0003-0986-4123 A functional anomaly of the muscles of the eye. 2018-01-13T20:11:20Z human_phenotype HP:0025590 Abnormal extraocular muscle physiology HP:0025590 A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. 2018-01-13T20:12:43Z human_phenotype HP:0025591 A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy. Abnormal superior oblique muscle physiology HP:0025591 A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve. https://orcid.org/0000-0003-0986-4123 Decreased strength of the superior oblique muscle. 2018-01-13T20:17:49Z Superior oblique palsy human_phenotype HP:0025592 Superior oblique muscle weakness HP:0025592 Mechanical limitation of the range of movement of the superior oblique muscle. 2018-01-13T20:38:29Z human_phenotype HP:0025593 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. Superior oblique muscle restriction HP:0025593 Mechanical limitation of the range of movement of the superior oblique muscle. https://orcid.org/0000-0003-0986-4123 An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occurring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. 2018-01-13T20:41:15Z human_phenotype HP:0025594 Superior oblique muscle overaction HP:0025594 An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occurring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye. PMID:11545636 https://orcid.org/0000-0003-0986-4123 Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-13T20:46:33Z Under-depression in adduction human_phenotype HP:0025595 Superior oblique muscle underaction HP:0025595 Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. 2018-01-13T20:54:37Z human_phenotype HP:0025596 The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction. Abnormal inferior oblique muscle physiology HP:0025596 A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve. https://orcid.org/0000-0003-0986-4123 Mechanical limitation of the range of movement of the inferior oblique muscle. 2018-01-13T21:15:59Z human_phenotype HP:0025597 In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively. Inferior oblique muscle restriction HP:0025597 Mechanical limitation of the range of movement of the inferior oblique muscle. https://orcid.org/0000-0003-0986-4123 Decreased strength of the inferior oblique muscle. 2018-01-13T21:23:31Z Inferior oblique palsy human_phenotype HP:0025598 Inferior oblique muscle weakness HP:0025598 Decreased strength of the inferior oblique muscle. https://orcid.org/0000-0003-0986-4123 A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. 2018-01-13T21:25:58Z human_phenotype HP:0025599 Inferior oblique muscle overaction HP:0025599 A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. PMID:11545636 https://orcid.org/0000-0003-0986-4123 A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. 2018-01-13T21:31:55Z human_phenotype HP:0025600 Abnormal inferior rectus muscle physiology HP:0025600 A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye. https://orcid.org/0000-0003-0986-4123 Decreased strength of the inferior rectus muscle. 2018-01-13T22:23:13Z human_phenotype HP:0025601 Inferior rectus muscle weakness HP:0025601 Decreased strength of the inferior rectus muscle. https://orcid.org/0000-0003-0986-4123 Mechanical limitation of the range of movement of the inferior rectus muscle. 2018-01-13T22:24:32Z human_phenotype HP:0025602 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. Inferior rectus muscle restriction HP:0025602 Mechanical limitation of the range of movement of the inferior rectus muscle. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. 2018-01-13T22:28:02Z human_phenotype HP:0025603 Abnormal superior rectus muscle physiology HP:0025603 A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe. https://orcid.org/0000-0003-0986-4123 A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit. 2018-01-13T22:31:31Z human_phenotype HP:0025604 Orbital schwannoma HP:0025604 Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. 2018-01-13T22:37:21Z Eyelid lag Lid lag human_phenotype von Graefe sign HP:0025605 Lid lag on downgaze HP:0025605 Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. 2018-01-13T22:41:09Z human_phenotype HP:0025606 Abnormal medial rectus muscle physiology HP:0025606 A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball. https://orcid.org/0000-0003-0986-4123 An inward turning (inversion) of the margin of the upper eyelid. 2018-01-13T22:44:13Z human_phenotype HP:0025607 Upper eyelid entropion HP:0025607 An inward turning (inversion) of the margin of the upper eyelid. https://orcid.org/0000-0003-0986-4123 An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. 2018-01-13T22:49:08Z human_phenotype HP:0025608 Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid. Cicatricial ectropion HP:0025608 An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. https://orcid.org/0000-0003-0986-4123 A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. 2018-01-13T22:52:54Z human_phenotype HP:0025609 Anterior blepharitis HP:0025609 A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles. https://orcid.org/0000-0003-0986-4123 A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. 2018-01-13T22:53:43Z Meibomian gland dysfunction human_phenotype Meibomian gland disease HP:0025610 Posterior blepharitis HP:0025610 A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. https://orcid.org/0000-0003-0986-4123 A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). 2018-01-13T22:58:02Z human_phenotype HP:0025611 Epicanthus superciliaris HP:0025611 A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye). https://orcid.org/0000-0003-0986-4123 A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. 2018-01-13T23:06:10Z human_phenotype HP:0025612 Corneal astigmatism HP:0025612 A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. https://orcid.org/0000-0003-0986-4123 Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. 2018-10-07T16:18:24Z Affective seizure Emotional seizure Focal affective seizure Partial emotional seizure human_phenotype HP:0025613 Focal emotional seizures are characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. Emotions include: fear/anxiety/panic, laughing (gelastic), crying (dacrystic), pleasure, anger. Focal emotional seizure HP:0025613 Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. PMID:28276060 PMID:28276062 PMID:28276064 An abscess is a localized collection of purulent material surrounded by inflammation and granulation. 2019-04-08T22:41:54Z human_phenotype HP:0025615 Abscess HP:0025615 An abscess is a localized collection of purulent material surrounded by inflammation and granulation. PMID:35125157 An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. 2019-04-08T22:44:34Z human_phenotype HP:0025616 Sterile abscess HP:0025616 An abnormal number of plasma cells in the blood circulation. Plasma cells are terminally differentiated B cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:51:27Z human_phenotype HP:0025617 Abnormal total plasma cell count HP:0025617 An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:52:54Z human_phenotype HP:0025618 Reduced plasma cell count HP:0025618 An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies. 2019-04-08T23:53:33Z human_phenotype HP:0025619 Elevated plasma cell count HP:0025619 HP:0031392 2019-04-08T23:55:32Z human_phenotype HP:0025620 obsolete Abnormal CD4+ central memory T cell proportion true HP:0025620 HP:0410393 2019-04-08T20:18:23Z human_phenotype HP:0025621 This was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 obsolete Increased proportion of CD4+ central memory cells true HP:0025621 HP:0410388 2019-04-08T20:18:23Z human_phenotype HP:0025622 Term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5695 obsolete Decreased proportion of CD4+ central memory cells true HP:0025622 HP:0410379 2019-04-09T00:11:24Z human_phenotype HP:0025623 obsolete Abnormal CD4+ effector memory T cell proportion true HP:0025623 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-09T00:13:00Z HP:0410387 Decreased proportion of CD4-positive effector memory T cells Decreased proportion of effector memory CD4-positive, alpha-beta T cells human_phenotype HP:0025624 Reduced proportion of CD4+ effector memory T cells Decreased effector memory CD4+ T cell proportion HP:0025624 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:22343568 An abnormally increased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. 2019-04-09T00:13:18Z HP:0410394 Increased CD4+ effector memory T cell proportion Increased effector memory CD4-positive T cell proportion Increased proportion of CD4+ effector memory T cells Increased proportion of CD4-positive effector memory T cells Increased proportion of effector CD4-positive, alpha-beta T cells human_phenotype HP:0025625 Elevated proportion of CD4+ effector memory T cells Increased effector memory CD4+ T cell proportion HP:0025625 An abnormally increased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. PMID:22343568 An abnormally high concentration of oleic acid (oleate) in the blood circulation. 2019-04-09T00:25:28Z human_phenotype HP:0025626 Increased circulating oleate level HP:0025626 An abnormally high concentration of oleic acid (oleate) in the blood circulation. PMID:18772370 https://orcid.org/0000-0002-8169-9049 An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid). 2019-04-09T00:28:58Z human_phenotype HP:0025627 Increased circulating octadecanoate level HP:0025627 An abnormally high concentration of myristoleate in the blood circulation. 2019-04-09T00:31:41Z human_phenotype HP:0025628 Increased circulating myristoleate level HP:0025628 The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). 2019-04-09T00:48:21Z human_phenotype HP:0025629 The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic. Anti-myelin-associated glycoprotein antibody positivity HP:0025629 The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). PMID:16969155 Increased amount of argininosuccinate in the urine. 2019-04-09T00:55:15Z human_phenotype HP:0025630 Argininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterized by hyperammonaemia, multiorgan disease and neurocognitive impairment. Argininosuccinic aciduria HP:0025630 Increased amount of argininosuccinate in the urine. PMID:30158522 https://orcid.org/0000-0002-8169-9049 Increased amount of alpha-aminobutyric acid in the urine. 2019-04-09T01:21:25Z human_phenotype HP:0025631 Alpha-aminobutyric aciduria HP:0025631 Increased amount of alpha-aminobutyric acid in the urine. https://orcid.org/0000-0002-8169-9049 HP:0003203 2019-04-09T01:36:43Z human_phenotype HP:0025632 obsolete Reduced reactive oxygen species production in neutrophils true HP:0025632 A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. 2019-04-26T17:40:47Z human_phenotype HP:0025633 Abnormal ureter morphology HP:0025633 A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. 2019-04-26T17:43:08Z human_phenotype HP:0025634 Abnormal ureter physiology HP:0025634 A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. 2019-04-26T17:44:45Z NCIT:C4530 Polyp of the ureter Ureter polyp human_phenotype HP:0025635 Ureteral polyp HP:0025635 A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk. NCIT:C4530 Inflammation of the inner lining of the uterus (endometrium). 2019-04-26T17:48:41Z Endometrial inflammation Inflammation of the inner lining of the uterus human_phenotype HP:0025636 Endometritis HP:0025636 Inflammation of the inner lining of the uterus (endometrium). PMID:29960704 https://orcid.org/0000-0002-8169-9049 Narrowing of an artery due to constriction of the blood vessels. 2019-04-26T17:51:29Z Angiospasm Blood vessel spasm Vascular spasm human_phenotype HP:0025637 Vasospasm HP:0025637 Narrowing of an artery due to constriction of the blood vessels. PMID:20557770 https://orcid.org/0000-0002-8169-9049 An increased level of N-butyrylglycine in the urine. 2019-04-26T18:06:25Z human_phenotype HP:0025638 Butyrylglycine is a N-acylglycine obtained by formal condensation of the carboxy group of butyric acid with the amino group of glycine. Its urinary excretion is increased in certain inborn errors of metabolism. Elevated urinary N-butyrylglycine HP:0025638 An increased level of N-butyrylglycine in the urine. https://orcid.org/0000-0002-8169-9049 An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection. 2019-04-26T18:12:28Z human_phenotype HP:0025639 Increased urinary zinc level HP:0025639 An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium. 2019-04-26T18:13:40Z human_phenotype HP:0025640 Abnormal urinary mineral level HP:0025640 The concentration of glycolate in the blood circulation is above the upper limit of normal. 2019-04-26T18:31:31Z human_phenotype HP:0025641 Glycolate is a hydroxy monocarboxylic acid anion that is acetate in which the methyl group has been hydroxylated. Elevated circulating glycolate concentration HP:0025641 The concentration of glycolate in the blood circulation is above the upper limit of normal. PMID:2002628 https://orcid.org/0000-0001-9969-8610 A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. 2019-07-24T09:26:34Z Perineural cyst human_phenotype HP:0025643 Tarlov cyst HP:0025643 A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. PMID:26435653 Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). 2021-03-30T15:42:07Z Fixation-off sensitivity human_phenotype HP:0025644 FOS occurs mainly in children who have non-acquired focal epilepsies with occipital epileptiform discharges and in people with generalized epilepsies with photosensitivity such as eyelid myoclonia with absences. It has been observed in people with epilepsies due to structural brain lesions and people without epilepsy who have posterior epileptiform discharges. Fixation-off epileptiform discharges HP:0025644 Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG). PMID:22925838 PMID:24099056 https://orcid.org/0000-0002-1735-8178 Polymicrogyria that affects all or some of both cerebral hemispheres. 2021-03-30T15:42:07Z human_phenotype HP:0025646 Bilateral polymicrogyria is not always generalized or perisylvian. Bilateral polymicrogyria HP:0025646 Polymicrogyria that affects all or some of both cerebral hemispheres. https://orcid.org/0000-0002-1735-8178 A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. 2021-04-02T19:27:44Z SSNS human_phenotype HP:0025647 Steroid-sensitive nephrotic syndrome HP:0025647 A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy. PMID:29910038 https://orcid.org/0000-0002-2234-4248 SSNS A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. 2021-04-02T19:27:44Z human_phenotype HP:0025648 No biopsy needed. Relapses are treated with steroids according to local protocols. Steroid-sensitive nephrotic syndrome with infrequent relapses HP:0025648 A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period. PMID:29910038 https://orcid.org/0000-0002-2234-4248 A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. 2021-04-02T19:27:44Z human_phenotype HP:0025649 Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. Steroid-sensitive nephrotic syndrome with frequent relapses HP:0025649 A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period. PMID:29910038 https://orcid.org/0000-0002-2234-4248 A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. 2021-04-02T19:27:44Z SDNS human_phenotype HP:0025650 Biopsy is necessary to determine underlying histology. Treatment with levamisole or immunosuppression (e.g. calcineurin inhibitors, cyclophosphamide or mycophenolat mofetil) in order to reduce steroid toxicity. Steroid-dependent nephrotic syndrome HP:0025650 A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. PMID:29910038 https://orcid.org/0000-0002-2234-4248 SDNS Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. 2021-10-20T19:30:09Z human_phenotype HP:0025652 Abnormal placental adhesion into the uterine wall HP:0025652 Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta. PMID:30210239 Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs. 2021-10-20T19:30:09Z Abnormal placental pentration beyond the uterine wall human_phenotype HP:0025653 Placenta percreta HP:0025653 Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs. PMID:30210239 Abnormally firm adherence of the placenta to the uterine wall. 2021-10-20T19:30:09Z human_phenotype HP:0025654 Placenta accreta HP:0025654 Abnormally firm adherence of the placenta to the uterine wall. PMID:15145367 Abnormal placental pentration into but not beyond the uterine wall. 2021-10-20T19:30:09Z human_phenotype HP:0025655 Placenta increta HP:0025655 Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. 2021-10-20T19:30:09Z human_phenotype HP:0025656 Prenatal double bubble sign HP:0025656 Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign. PMID:31167209 2021-10-20T19:30:09Z human_phenotype HP:0025657 Abnormal umbilical blood flow measurement HP:0025657 HP:0025715 2021-10-20T19:30:09Z human_phenotype HP:0025658 obsolete Abnormal umbilical artery Doppler pattern in pregnancy true HP:0025658 The activity of creatine kinase in the blood circulation is below the lower limit of normal. 2021-11-10T10:35:36Z Decreased circulating creatine kinase activity Decreased creatine kinase concentration Decreased creatine kinase level Decreased creatine kinase level in blood Reduced creatine kinase concentration Reduced creatine kinase level Reduced creatine kinase level in blood human_phenotype HP:0025659 Decreased circulating creatine kinase activity HP:0025659 A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. 2021-11-10T10:35:36Z Arnold-Chiari type II malformation human_phenotype HP:0025660 While Chiari I malformation is thought to result from a small posterior fossa, Chiari II occurs due to in utero malformation of the spine and cranial structures. The underlying cause of Chiari II malformation is thought to be an in utero CSF leak due to open spinal dysraphism, resulting in a small posterior fossa with distortion of the cerebellum and a diminutive cisterna magna, sometimes accompanied by ventriculomegaly and an altered shape of the calvarium. Chiari II malformation is always associated with spinal myelomeningocele or myelocele. Classical signs described on prenatal ultrasound include lemon sign and banana cerebellum sign. Chiari type II malformation HP:0025660 A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. PMID:28613730 PMID:32706613 A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. 2021-11-10T10:35:36Z Arnold-Chiari type III malformation human_phenotype HP:0025661 Chiari type III malformation HP:0025661 A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele. PMID:28613730 An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes. 2022-01-11T13:25:51Z human_phenotype HP:0025662 Abnormal fetal skeletal morphology HP:0025662 This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. 2022-01-11T13:25:51Z human_phenotype HP:0025663 Reduced fetal femur/foot length ratio HP:0025663 This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors. PMID:2406168 PMID:3292975 Birth at 32 to 36 completed weeks of gestation. 2022-01-11T13:25:51Z human_phenotype HP:0025664 World Health Organization definition. Moderate to late preterm birth HP:0025664 Birth at 32 to 36 completed weeks of gestation. https://orcid.org/0000-0002-6670-9157 Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). 2022-01-11T13:25:51Z human_phenotype HP:0025665 Extremely preterm birth HP:0025665 Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation). https://orcid.org/0000-0002-6670-9157 Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks). 2022-01-11T13:25:51Z human_phenotype HP:0025666 Very preterm birth HP:0025666 Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks). PMID:27743648 https://orcid.org/0000-0002-6670-9157 A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-01-17T17:19:34Z human_phenotype HP:0025667 Fetal neck anomaly HP:0025667 Any structural anomaly of the neck region. 2022-01-17T17:19:34Z human_phenotype HP:0025668 Abnormal neck morphology HP:0025668 Any functional anomaly of the neck region. 2022-01-17T17:19:34Z human_phenotype HP:0025669 Abnormal neck physiology HP:0025669 Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. 2022-01-17T17:19:34Z human_phenotype HP:0025670 This condition differs from holoprosencephaly (HPE) in that the midline fusion in syntelencephaly is complete but segmental, while the structural brain anomalies seen in the HPE spectrum progress smoothly in severity in a posterior to anterior fusion. Syntelencephaly HP:0025670 Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. PMID:11827888 An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. 2022-01-22T07:37:48Z human_phenotype HP:0025671 Fetal pericardial effusion appears in conditions such as hydrops fetalis, heart structural or rhythm alterations, however, it can also be observed in isolation. Fetal pericardial effusion HP:0025671 An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms. PMID:16098320 PMID:33781717 A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. 2022-01-22T07:37:48Z human_phenotype HP:0025672 In first trimester ultrasound examination generalized skin edema is often the first feature of hydrops fetalis. Fetal skin edema HP:0025672 A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue. PMID:23696062 A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. 2022-01-22T07:37:48Z Septated ascites human_phenotype HP:0025673 Loculated ascites HP:0025673 A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection. PMID:14981382 PMID:28567101 A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. 2022-01-22T07:37:48Z human_phenotype HP:0025674 A fetal intraperitoneal cystic mass that shows high T1 and low T2 signals in prenatal magnetic resonance imaging is considered pathognomonic of meconium pseudocyst. See Figure 1 of PMID: 19293041. Meconium pseudocyst HP:0025674 A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst. PMID:19293041 A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery). 2022-01-22T07:37:48Z Fetal PAD narrowing-closure Fetal PDA narrowing-closure Fetal arterial duct narrowing-closure Fetal ductus arteriosus narrowing-closure Foetal PAD narrowing-closure Foetal PDA narrowing-closure Foetal arterial duct narrowing-closure Foetal ductus arteriosus narrowing-closure Idiopathic constriction of the fetal ductus arteriosus Idiopathic constriction of the foetal ductus arteriosus PCDA human_phenotype HP:0025675 Premature closure of the ductus arteriosus HP:0025675 A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery). PMID:34304616 Foetal PAD narrowing-closure Foetal PDA narrowing-closure Foetal arterial duct narrowing-closure Foetal ductus arteriosus narrowing-closure Idiopathic constriction of the foetal ductus arteriosus PCDA Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. 2022-01-22T07:37:48Z human_phenotype HP:0025676 With the ongoing evolution and more widespread use of obstetric ultrasound, fetal pleural effusions are being recognized more often and at earlier gestational ages. Fetal pleural effusion HP:0025676 Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops. PMID:18280793 The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. 2022-01-22T07:37:48Z human_phenotype HP:0025677 Fetal chylothorax is associated with a high mortality rate. The most serious consequences of fetal chylothorax are pulmonary hypoplasia, congestive heart failure, and hydrops. It may occur as an isolated disorder or as a feature of diseases such as trisomy 21, Turner syndrome, and Noonan syndrome. Chylous pleural effusion impairs normal development of fetal lungs by pressure effects and can lead to pulmonary hypoplasia, mediastinal shift, and impaired circulation. Fetal chylothorax HP:0025677 The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus. PMID:10472400 PMID:28351595 Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. 2022-01-22T07:37:48Z human_phenotype HP:0025678 Fetal hydrothorax HP:0025678 Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed. PMID:25721226 Inflammation of an intervertebral disk or disk space. 2022-01-31T04:50:28Z Discitis human_phenotype HP:0025679 Diskitis HP:0025679 Inflammation of an intervertebral disk or disk space. PMID:31082091 Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. 2022-01-31T04:50:28Z CMAP facilitation human_phenotype HP:0025680 Compound muscle action potential amplitude facilitation HP:0025680 Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction. PMID:25192047 CMAP facilitation Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region. 2022-01-31T04:50:28Z human_phenotype HP:0025681 Distal clavicular thinning HP:0025681 A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. 2022-01-31T04:50:28Z human_phenotype HP:0025682 Crouch gait may be observed in individuals affected by cerebral palsy. Crouch gait HP:0025682 A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase. PMID:26709688 PMID:28279852 https://orcid.org/0000-0002-6670-9157 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. 2022-01-31T04:50:28Z human_phenotype HP:0025683 The amyloid cascade hypothesis has been the prevailing paradigm for understanding Alzheimer's disease (AD) pathogenesis. According to this hypothesis, the fibrillogenic 42-amino acid beta amyloid peptide (Abeta42) aggregates into toxic beta-sheet rich assemblies, triggering a cascade of neurotoxic events, including intracellular tau accumulation as neurofibrillary tangles and neuroinflammation, which ultimately result in neurodegeneration and subsequent cognitive impairment. Abnormal amyloid beta 42 peptide CSF concentration HP:0025683 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form. PMID:27025652 https://orcid.org/0000-0003-2307-1226 A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). 2022-01-31T04:50:28Z human_phenotype HP:0025684 Decreased amyloid beta 42 peptide CSF concentration HP:0025684 A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). PMID:15992827 PMID:31391004 https://orcid.org/0000-0003-2307-1226 An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). 2022-01-31T04:50:28Z human_phenotype HP:0025685 Increased amyloid beta 42 peptide CSF concentration HP:0025685 An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). https://orcid.org/0000-0003-2307-1226 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. 2022-01-31T04:50:28Z Abnormal Abeta 40 level Abnormal beta amyloid 40 level human_phenotype HP:0025686 Abnormal amyloid beta 40 peptide CSF concentration HP:0025686 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form. PMID:29420472 https://orcid.org/0000-0003-2307-1226 An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). 2022-01-31T04:50:28Z human_phenotype HP:0025687 Increased amyloid beta 40 peptide CSF concentration HP:0025687 An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF). PMID:19273758 https://orcid.org/0000-0003-2307-1226 Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. 2022-01-31T04:50:28Z human_phenotype HP:0025688 Abnormal amyloid beta peptide CSF concentration HP:0025688 Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid. PMID:31391004 https://orcid.org/0000-0003-2307-1226 Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. 2022-01-31T04:50:28Z human_phenotype HP:0025689 Intra-abdominal umbilical vein varix is defined to be 9 mm or greater in diameter or alternatively to have a diameter that is 50 percent wider than that of the intrahepatic umbilical vein. Extra-abdominal umbilical vein varix HP:0025689 Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth. PMID:33099808 Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. 2022-01-31T04:50:28Z FIUVV Fetal umbilical vein dilatation Foetal umbilical vein dilatation human_phenotype HP:0025690 Fetal intra-abdominal umbilical vein varix HP:0025690 Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age. PMID:24883288 PMID:28876490 FIUVV Foetal umbilical vein dilatation Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. 2022-01-31T04:50:28Z human_phenotype HP:0025691 Impaired fasting glucose HP:0025691 Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG. PMID:17327355 PMID:29763085 https://orcid.org/0000-0001-7505-5418 A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). 2022-01-31T04:50:28Z human_phenotype HP:0025692 Atelencephaly can be differentiated from anencephaly by the presence of a skull and an intact scalp. Aprosencephaly is characterized by absence of the telencephalon and diencephalon (embryonic structure from which the thalamus develops). Atelencephaly is generally fatal. Atelencephaly HP:0025692 A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops). PMID:26260203 A pituitary gland adenoma that is larger than 10mm. 2022-01-31T04:50:28Z Pituitary gland macroadenoma human_phenotype HP:0025693 Pituitary macroadenoma presents with mass effects and potentially hormonal deficiency or hormonal excess. Pituitary macroadenoma HP:0025693 A pituitary gland adenoma that is larger than 10mm. PMID:32119338 A pituitary adenoma that is less than 10 mm in diameter. 2022-01-31T04:50:28Z human_phenotype HP:0025694 Pituitary microadenoma is usually an incidental finding on brain MRI. Patients are asymptomatic unless the tumor is hormonally active. Pituitary microadenoma HP:0025694 A pituitary adenoma that is less than 10 mm in diameter. PMID:32119338 Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection. 2022-01-31T04:50:28Z human_phenotype HP:0025695 Mucus plug HP:0025695 A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. 2022-01-31T04:50:28Z human_phenotype HP:0025696 Casts are frequently (4-16%) observed in patients with congenital heart disease who have undergone Fontan palliation. Casts are infrequently observed in sickle cell disease-and acute chest syndrome, airway infections, in particular H1N1 influenza, severe asthma, or after smoke/chemical inhalation injuries. Airway casts HP:0025696 A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts. PMID:34713989 https://orcid.org/0000-0003-0113-912X A type of airway casts that consist of plasma components and inflammatory cells. 2022-01-31T04:50:28Z Cellular airway casts Diphtheroid membranes Pseudomembranes Type I airway casts human_phenotype HP:0025697 Fibrin casts HP:0025697 A type of airway casts that consist of plasma components and inflammatory cells. https://orcid.org/0000-0003-0113-912X A type of airway casts that consist of impacted mucus. 2022-01-31T04:50:28Z Acellular airway casts Type II airway casts human_phenotype HP:0025698 Mucin casts HP:0025698 A type of airway casts that consist of impacted mucus. https://orcid.org/0000-0003-0113-912X 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. 2022-01-31T04:50:28Z Perisylvian hypermetabolism in FDG PET human_phenotype HP:0025699 Perisylvian FDG hypermetabolism HP:0025699 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure. PMID:33452041 A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. 2022-01-31T14:14:12Z human_phenotype HP:0025700 Anhydramnios HP:0025700 A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm. PMID:34230606 The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. 2022-01-31T14:14:12Z human_phenotype HP:0025701 Distended jugular lymphatic sacs (JLS) may pre-date or accompany raised nuchal translucency or cystic hygroma and are associated with the same range of disorders. These are largely chromosomal aneuploidies or significant copy number variation. Current evidence suggests distended JLS in the absence of raised nuchal translucency are likely to be normal variation. Distended jugular lymphatic sacs HP:0025701 The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency. PMID:19248150 PMID:20227670 PMID:23718767 https://orcid.org/0000-0002-7653-4653 A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. 2022-01-31T14:14:12Z Trans-mantle schizencephaly human_phenotype HP:0025702 Type 1 schizencephaly HP:0025702 A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging. PMID:30027296 PMID:3111205 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. 2022-01-31T14:14:12Z human_phenotype HP:0025703 This is a milder form of schizecephaly that can be asymptomatic or diagnosed in adult patients. Type 2 schizencephaly HP:0025703 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other. PMID:30027296 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. 2022-01-31T14:14:12Z human_phenotype HP:0025704 This is a severe form of schizencephaly that can manifest by refractory epilepsy, intellectual disability, varying degrees of paralysis from hemiparesis to quadriparesis. Type 3 schizencephaly HP:0025704 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter. PMID:30027296 Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. 2022-01-31T14:14:12Z human_phenotype HP:0025705 Abnormal fetal nasal bone visualization HP:0025705 Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age. PMID:16813740 The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. 2022-01-31T14:14:12Z Absence of fetal nasal bone Absence of foetal nasal bone Unossified nasal bone human_phenotype HP:0025706 See Figure 1 of PMID:23324624. Absent fetal nasal bone HP:0025706 The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy. PMID:23324624 PMID:31679594 Absence of foetal nasal bone Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. 2022-01-31T14:14:12Z human_phenotype HP:0025707 Different studies have used different cut-offs to assess the length of nasal bone. Most data supports use of gestation and ethnicity specific centiles or MoMs. Hypoplastic nasal bone on antenatal ultrasound is one of the soft markers for Down syndrome. This marker can be used to adjust a-priori risk for Down syndrome and offer options for further diagnostic testing to the pregnant woman. Hypoplastic nasal bone can also rarely be a marker for submicroscopic copy number abnormalities and single gene disorders in the fetus. Hypoplastic fetal nasal bone HP:0025707 Onset of disease at an age of greater than or equal to 16 to under 19 years. 2022-01-31T14:14:12Z human_phenotype HP:0025708 This term includes the full 16th year of age up to the completed 18th year of age (i.e., less than the 19th birthday). Early young adult onset HP:0025708 Onset of disease at an age of greater than or equal to 19 to under 25 years. 2022-01-31T14:14:12Z human_phenotype HP:0025709 This term includes the full 19th year of age up to the completed 25th year of age (i.e., less than the 25th birthday). Intermediate young adult onset HP:0025709 Onset of disease at an age of greater than or equal to 25 to under 40 years. 2022-01-31T14:14:12Z human_phenotype HP:0025710 This term includes the full 25th year of age up to the completed 40th year of age (i.e., less than the 40th birthday). Late young adult onset HP:0025710 Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. 2022-01-31T14:14:12Z Convergence retraction nystagmus human_phenotype HP:0025711 Convergence-retraction nystagmus HP:0025711 Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze. PMID:27169871 Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). 2022-01-31T14:14:12Z Amnion-chorion separation human_phenotype HP:0025712 The separation of the chorion and amnion before 14 weeks' of gestation is physiologically normal. The amnion and chorion usually fuse between 14 and 16 weeks, and any chorioamniotic separation (CAS) that persists after 16 weeks is uncommon and anomalous. CAS can occur spontaneously or after an intrauterine intervention such as amniocentesis, fetal blood sampling, or fetal surgery. Spontaneous chorioamniotic separation HP:0025712 Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis). PMID:27683622 Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. 2022-01-31T14:14:12Z Dystrophic neurite human_phenotype HP:0025713 Dystrophic neurites occur around neuritic plaques in the brains of subjects with Alzheimer's disease and various other neurological conditions. Neurite dystrophy HP:0025713 Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins. PMID:30899091 https://orcid.org/0000-0003-2307-1226 An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. 2022-01-31T14:14:12Z human_phenotype HP:0025714 See figure 1 of PMID:10867785. Cerebral cortical microinfarct HP:0025714 An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions. PMID:10867785 https://orcid.org/0000-0003-2307-1226 Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. 2022-01-31T14:14:12Z HP:0025658 human_phenotype HP:0025715 Abnormal umbilical artery doppler waveform during pregnancy HP:0025715 Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester. PMID:12768548 Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. 2022-01-31T14:14:12Z human_phenotype HP:0025716 Fetal anemia has been known for many years as a dangerous complication of pregnancy. Its most common causes are maternal alloimmunization and parvovirus B19 infection, although it can be associated with many different pathological conditions including fetal aneuploidies, vascular tumors, and arteriovenous malformations of the fetus or placenta and inherited conditions such as alpha-thalassemia or genetic metabolic disorders. Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery for the diagnosis of fetal anemia and intravascular intrauterine transfusion for its treatment are the current practice standards. Fetal anemia HP:0025716 Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery. PMID:30718211 https://orcid.org/0000-0002-8593-2186 Abnormal accumulation of autophagosomes in skeletal muscle tissue. 2022-01-31T14:14:12Z Autophagic material in muscle biopsy human_phenotype HP:0025717 Autophagy (self-eating) is a process of lysosomal degradation of long-lived proteins and damaged organelles. In macroautophagy (hereafter referred to as autophagy), double-membrane vesicles known as autophagosomes sequester cytoplasm and damaged organelles. The autophagosomes fuse with endosomes, giving rise to amphisomes, followed by fusion with lysosomes where degradation of autophagosomal contents is completed. Autophagy is a critical survival mechanism under conditions of nutrient deprivation and appears to play a role in basal protein turnover as well. Under normal conditions, autophagosomes and amphisomes are quickly degraded by lysosomes, and their content is recycled. In certain pathological states, significant accumulation of autophagosomes is observed. Skeletal muscle autophagosome accumulation HP:0025717 Abnormal accumulation of autophagosomes in skeletal muscle tissue. PMID:20040311 An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. 2022-01-31T14:14:12Z Hyperechoic muscle Muscle ultrasound hyperechogenicity human_phenotype HP:0025718 Skeletal muscle hyperechogenicity HP:0025718 An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation. PMID:32989482 Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. 2022-02-01T17:07:42Z human_phenotype HP:0025719 Maternal vascular malperfusion (MVM) of the placental bed represents a recognizable pattern of placental injury related to altered uterine and intervillous blood flow. MVM consists of a constellation of placental pathologic findings seen in the maternal decidual vessels, reflecting abnormal spiral artery remodeling, as well as in the villous parenchyma, reflecting abnormalities in oxygenation and flow dynamics in the intervillous space. Maternal vascular malperfusion HP:0025719 Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities. PMID:30129127 Limited mobility of the eye to move from side to side (horizontally) within its socket. 2022-02-01T17:07:42Z human_phenotype HP:0025720 Limited horizontal extraocular movement HP:0025720 Limited mobility of the eye to move from side to side (horizontally) within its socket. https://orcid.org/0000-0002-3302-4610 Limited mobility of the eye to move up and down (vertically) within its socket. 2022-02-01T17:07:42Z human_phenotype HP:0025721 Limited vertical extraocular movement HP:0025721 Limited mobility of the eye to move up and down (vertically) within its socket. https://orcid.org/0000-0002-3302-4610 A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. 2022-02-01T17:07:42Z human_phenotype HP:0025722 Cerebral infarct HP:0025722 A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors. PMID:10867785 Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-02-01T17:07:42Z human_phenotype HP:0025723 Abnormal fetal skin morphology HP:0025723 Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. 2022-02-01T17:07:42Z Greasy, thick vernix caseosa-like scale human_phenotype HP:0025724 Caseous vernix-like desquamation HP:0025724 Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth. PMID:21856041 A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. 2022-02-01T17:07:42Z human_phenotype HP:0025725 Type 1 congenital pulmonary airway malformation HP:0025725 A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst. PMID:27070354 A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). 2022-02-01T17:07:42Z human_phenotype HP:0025726 Type 2 congenital pulmonary airway malformation HP:0025726 A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance). PMID:27070354 A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. 2022-02-01T17:07:42Z human_phenotype HP:0025727 Type 3 congenital pulmonary airway malformation HP:0025727 A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance. PMID:27070354 Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. 2022-02-01T17:07:42Z human_phenotype HP:0025728 Previously, periventricular leukomalacia and periventricular pseudocysts (PVPC) have been confused. PVPC are found below the external angle of the lateral ventricles whereas periventricular leukomalacia is located above it and has a different prognosis. Periventricular pseudocyst HP:0025728 Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns. PMID:12423480 PMID:32277778 The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is thought to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). 2022-02-01T17:07:42Z human_phenotype HP:0025729 Findings consistent with FVM are thrombosis, segmental avascular villi, and villous stromal-vascular karyorrhexis. Other possible markers include vascular intramural fibrin deposition, stem vessel obliteration/fibromuscular sclerosis, and vascular ectasia. If data are available it is preferable to annotate the individual phenotypic features with specific HPO terms. Fetal vascular malperfusion HP:0025729 The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is thought to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.). PMID:27223167 Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. 2022-02-01T17:07:42Z Fetal atrial septal dilatation Foetal atrial septal dilatation Redundant septum primum flap human_phenotype HP:0025730 The reported incidence of foramen ovale aneurysm (FOA) in preterm and term infants is 11.1% and 7.1%, respectively. Postnatally, most atrial septal aneurysms resolve spontaneously as the pressure in the left atrium increases and compresses the septum against the foramen ovale. However, atrial septal aneurysms may be associated with other cardiac anomalies including atrial septum defect, patent foramen ovale, and mitral valve prolapse. In the absence of other cardiac anomalies or arrhythmia, the prognosis for FOA is excellent. See figure 7 of PMID:30601441. Foramen ovale aneurysm HP:0025730 Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow. PMID:30601441 Foetal atrial septal dilatation The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1. 2024-05-04T09:21:23Z Anti-GPIHBP1 antibody positivity human_phenotype HP:0025731 Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity HP:0025731 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1. PMID:28402248 PMID:32948662 PMID:35185060 PMID:36402671 Anti-GPIHBP1 antibody positivity A substantial lag in the achievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance. 2024-05-06T12:28:15Z human_phenotype HP:0025732 Social-emotional delays and behavioral problems at preschool age are associated with increased risk for negative outcomes at school age, including ongoing behavior problems, psychiatric disorders, and poorer academic achievement. The development of social-emotional competencies has important consequences for young children, including the ability to make and maintain quality friendships, and peer acceptance. Abnormal social development HP:0025732 A substantial lag in the achievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance. PMID:30623038 A type of gonadal dysgenesis in which the gonadal tissue is underdeveloped and appears as fibrous, streak-like structures instead of fully formed ovaries or testes. 2024-05-09T10:03:11Z human_phenotype HP:0025733 Streak gonad HP:0025733 The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-25T11:20:37Z human_phenotype HP:0025734 Elevated urinary 5-hydroxyhexanoic acid level HP:0025734 The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:32550677 Any structural abnormality of the third (oculomotor) cranial nerve. 2024-06-30T13:07:18Z human_phenotype HP:0025735 Abnormal third cranial nerve morphology HP:0025735 A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna). 2024-07-01T08:12:15Z human_phenotype HP:0025736 Long-bone fracture HP:0025736 Any structural anomaly of the subthalamic nucleus, a small lens-shaped structure located within the diencephalon near the junction with the midbrain. The subthalamic nucleus composes the majority of the subthalamus along with the subthalamic fasciculus, ansa lenticularis, and several other smaller structures. 2024-07-04T07:55:25Z human_phenotype HP:0025737 Abnormal subthalamic nucleus morphology HP:0025737 Any structural anomaly of the subthalamic nucleus, a small lens-shaped structure located within the diencephalon near the junction with the midbrain. The subthalamic nucleus composes the majority of the subthalamus along with the subthalamic fasciculus, ansa lenticularis, and several other smaller structures. PMID:32644428 An abnormal neuroimaging finding consisting in an area of decreased density surrounded by a bright rim from concentration of the enhancing contrast dye. 2024-07-04T07:59:17Z human_phenotype HP:0025738 See Figure 1 of PMID:28198691. Ring-enhancing cerebral lesion HP:0025738 An abnormal neuroimaging finding consisting in an area of decreased density surrounded by a bright rim from concentration of the enhancing contrast dye. PMID:28198691 A swelling or enlargement localized to the optic nerve. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-07-04T08:01:05Z human_phenotype HP:0025739 This finding may represent the initial result of CT or MRI studies. Optic nerve mass HP:0025739 An increase in the level of succinate in the brain identified by magnetic resonance spectroscopy (MRS). 2024-07-04T08:02:39Z Elevated brain succinate level by magnetic resonance spectroscopy human_phenotype HP:0025740 Elevated brain succinate level by MRS HP:0025740 A lesion located in the brainstem that appears areas less dense on magnetic resonance imaging or lighter on computed tomography. 2024-07-04T08:03:51Z Brainstem lucencies human_phenotype HP:0025741 Brainstem lucency HP:0025741 Brainstem lucencies The amount of L-xylulose in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-04T08:05:59Z human_phenotype HP:0025742 Elevated urine L-xylulose level HP:0025742 The amount of biliverdin in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-04T08:06:39Z human_phenotype HP:0025743 Elevated urine biliverdin level HP:0025743 The amount of dodecanedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-04T08:07:34Z human_phenotype HP:0025744 Elevated urine dodecanedioic acid level HP:0025744 2024-07-05T06:31:27Z human_phenotype HP:0025745 Abnormal urine amino acid level HP:0025745 The amount of glutamine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-07-05T06:31:42Z human_phenotype HP:0025746 Diminished urine glutamine level HP:0025746 Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the tongue. 2024-07-06T09:55:14Z human_phenotype HP:0025747 Tongue spasticity HP:0025747 Limited ability to move the tongue related to mechanical restrictions such as akyloglossia and not associated with tongue muscle weakness. 2024-07-06T09:57:51Z human_phenotype HP:0025748 Restricted tongue movement HP:0025748 A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left limb (arm or leg or both). 2024-07-06T10:00:48Z human_phenotype HP:0025749 Asymmetric blood pressure between limbs HP:0025749 A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left legs. 2024-07-06T10:01:28Z human_phenotype HP:0025750 Asymmetric blood pressure between legs HP:0025750 A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left legs. PMID:34907753 A reduction in the height of the anterior portion of the sclera. 2024-07-07T10:06:39Z human_phenotype HP:0025751 This finding can be ascertained by optical coherence tomography. Reduced anterior scleral thickness HP:0025751 A reduction in the height of the anterior portion of the sclera. PMID:32271887 A reduction in the height of the posterior portion of the sclera. 2024-07-07T10:08:19Z human_phenotype HP:0025752 This finding can be ascertained by optical coherence tomography. Reduced posterior scleral thickness HP:0025752 A reduction in the height of the posterior portion of the sclera. PMID:32271887 The amount of 2-aminoisobutyric acid in the urine, when normalized for urine concentration, is above the upper limit of normal. 2024-07-07T10:17:12Z human_phenotype HP:0025753 Elevated urinary 2-aminoisobutyric acid HP:0025753 The concentration or activity of beta hexosaminidase A in the blood circulation is below the lower limit of normal. 2024-07-07T12:59:52Z Hexosaminidase A deficiency human_phenotype HP:0025754 The HEXA gene encodes the alpha subunit of hexosaminidase A (EC 3.2.1.52), a lysosomal enzyme involved in the breakdown of gangliosides. There are 2 isoenzymes of hexosaminidase: Hex-A and Hex-B. Hex-A has the structure alpha-beta, while Hex-B has the structure beta-beta. Reduced beta-hexosaminidase A activity HP:0025754 An abnormality affecting the outline (shape) or contour of the nail. 2024-07-09T16:17:39Z human_phenotype HP:0025755 Abnormal nail shape HP:0025755 An abnormality affecting the outline (shape) or contour of the nail. PMID:25821724 An anomaly of the connection of the nail to the nailbed. 2024-07-09T16:19:03Z human_phenotype HP:0025756 Abnormal nail attachment HP:0025756 An anomaly of the connection of the nail to the nailbed. PMID:25821724 An anomaly of the surface of the nail. 2024-07-09T16:20:27Z human_phenotype HP:0025757 Abnormal nail surface HP:0025757 An anomaly of the surface of the nail. PMID:25821724 A mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. This term refers to a property (characteristic) of a mass. 2024-07-20T09:44:55Z human_phenotype HP:0025758 Characteristic of mass HP:0025758 This modifier is applied to a palpable mass or swelling in the body that can be moved or shifted under the skin when pressed or manipulated. 2024-07-20T09:46:13Z Mobile mass human_phenotype HP:0025759 Mobile lump HP:0025759 This modifier is applied to a palpable mass or swelling in the body that cannot be moved or shifted under the skin when pressed or manipulated. 2024-07-20T09:47:48Z Immobile mass human_phenotype HP:0025760 Immobile lump HP:0025760 This modifier is applied to a palpable mass or swelling in the body that does not elicit pain upon palpation. 2024-07-20T09:49:39Z human_phenotype HP:0025761 Painless mass HP:0025761 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptors of the ganglionic type. 2024-07-21T06:37:44Z human_phenotype HP:0025762 Ganglionic AChR antibodies are found in patients with autoimmune autonomic ganglionopathy (AAG). Patients with AAG typically present with rapid onset of severe autonomic failure. Major clinical features include orthostatic hypotension, gastrointestinal dysmotility, anhidrosis, bladder dysfunction, and sicca symptoms. Impaired pupillary light reflex is often seen. Anti-ganglionic acetylcholine receptor antibody positivity HP:0025762 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptors of the ganglionic type. PMID:18474849 The urine anion gap (UAG), calculated as [(Na+ + K+) - (Cl-)] has been used to roughly estimate whether urine ammonium is increased or decreased in the evaluation of hyperchloremic metabolic acidosis. The more ammonium in the urine, the lower the UAG is, which achieves negative values within a wide range (0 to -200 mEq/L) during hyperchloremic metabolic acidosis. In patients with distal renal tubular acidosis (RTA) of several etiologies, the UAG is positive, despite the prevailing metabolic acidosis, and this is a useful bedside diagnostic index of impaired ammonium excretion. 2024-07-21T06:42:37Z human_phenotype HP:0025763 Positive urine anion gap HP:0025763 The urine anion gap (UAG), calculated as [(Na+ + K+) - (Cl-)] has been used to roughly estimate whether urine ammonium is increased or decreased in the evaluation of hyperchloremic metabolic acidosis. The more ammonium in the urine, the lower the UAG is, which achieves negative values within a wide range (0 to -200 mEq/L) during hyperchloremic metabolic acidosis. In patients with distal renal tubular acidosis (RTA) of several etiologies, the UAG is positive, despite the prevailing metabolic acidosis, and this is a useful bedside diagnostic index of impaired ammonium excretion. PMID:29311217 A type of encephalocele that is characterized by herniation through the foramen cecum into the prenasal space and nasal cavity under the nasal bones and above the nasal septum. 2024-07-21T07:22:04Z human_phenotype HP:0025764 Nasoethmoidal encephalocele HP:0025764 A type of encephalocele that is characterized by herniation through the foramen cecum into the prenasal space and nasal cavity under the nasal bones and above the nasal septum. PMID:32965839 This modifier is applied to a palpable mass or swelling in the body that has a rubber-like consistency, that is, it is soft and somewhat compressible. 2024-07-21T11:55:49Z Rubber-like mass human_phenotype HP:0025765 Rubber-like lump HP:0025765 An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts. 2024-07-21T12:00:05Z human_phenotype HP:0025766 Affect includes a combination of emotion in terms of feelings and its expression either in the verbal or behavioral (action) level. Normal expressions are often relatively short lived and familiar to the person while pathological expressions may be intense and extended and considered out of character for the individual. Affect encompasses: 1) emotions, 2) volition, and 3) what is termed the intellect or cognitive elements expressing (communicating) emotion and volition. Affect includes an internal feeling (emotion), an internal drive (will), and a motor component expression (typically speech, but also reflected in thoughts). Abnormal affect HP:0025766 An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts. PMID:37925091 HP:0031844 2024-07-21T12:24:10Z human_phenotype HP:0025767 obsolete Abnormal positive emotional state true HP:0025767 HP:0031844 2024-07-21T12:33:30Z human_phenotype HP:0025768 obsolete Inappropriate elation true HP:0025768 An abnormality in the dynamic mode, rate, or form of thought processes as recognized from the flow of ideas expressed in speech. Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and loose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter. 2024-07-21T12:48:31Z HP:5200235 Disordered formal thought processes Formal thought disorder human_phenotype Disorganized speech or communication HP:0025769 Disordered thinking patterns and cognitive processes that are expressed in speech. Expressed speech reflects disorganized thoughts and may include idiosyncratic use of words with illogical meanings, disjointed or fragmented sentence structure that makes it difficult to follow the logic of statements. Also included are abnormalities in rate or speed, and intensity of thoughts as reflected in variations in rate and volume of expressed speech. Disordered formal thought process HP:0025769 An abnormality in the dynamic mode, rate, or form of thought processes as recognized from the flow of ideas expressed in speech. Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and loose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter. PMID:30416391 PMID:31582814 Disordered formal thought processes 2024-07-22T08:44:06Z human_phenotype HP:0025770 Fusion of the second and third finger, involving soft parts and including fusion of individual finger bones. 2-3 finger osseus syndactyly HP:0025770 Recurrent thoughts that have a thematic thread that is typically familiar to the individual and are often willfully brought forth or occur in the context of an anxious preoccupation or worry about a relevant concern which may be out of proportion to the context. Ruminations may be of normal thinking rate and are characterized by a recurring theme that usually has a negative connotation. 2024-07-21T13:02:22Z human_phenotype HP:0025771 Ruminations are a disorder of thought content - similar to but distinct from preoccupations. Ruminations HP:0025771 A persistent abnormality in patterns or meanings of expressed language. Words and phrases are disorganized in relationship to each other and often used incorrectly or inappropriately for the context and background culture of the person. 2024-07-21T13:32:54Z human_phenotype HP:0025772 Abnormal lexical patterns HP:0025772 Odd use of words that are out of context and inappropriate for the social situation. 2024-07-21T13:42:26Z human_phenotype HP:0025773 Abnormal semantics HP:0025773 Words or phrases and their expression that are used in a manner that is not consistent with the current and accepted meaning for the context and social circumstance. This does not apply to peer or culture driven novel uses of words that are accepted within the given social circles. 2024-07-21T13:46:04Z Ascribing novel meanings to words human_phenotype HP:0025774 Idiosyncratic use of words HP:0025774 Patterns of expressed speech that have many words to describe a feature, but are themselves vague and approximations. The speech does not get to the point, but rather seems to go around and around and is inconcise and difficult to grasp the primary issue or purpose of the communicated words. 2024-07-21T13:50:50Z Circumstantiality Tangentiality human_phenotype HP:0025775 Tangential speech HP:0025775 The experience that thoughts are forced into the conscious awareness by external and foreign entities. The affected individual typically does not recognize the thoughts as coming from themselves and may develop secondary delusional ideas to explain the source of the process. 2024-07-21T14:00:47Z human_phenotype HP:0025776 Thought insertion HP:0025776 The experience that thoughts are being broadcasted from their head/conscious experience, some report that their thoughts are escaping, while others may believe that their thoughts are being picked up by a nearby receiver only to be further propagated. The person subsequently believes that everyone knows what they are thinking and feels that they have no privacy. 2024-07-21T14:02:22Z human_phenotype HP:0025777 Thought broadcasting HP:0025777 The personal experience that thoughts are echoing around them and that they are hearing their own thoughts as they are experiencing them internally. 2024-07-21T14:03:27Z Echo de pensee Gedankenlautverden human_phenotype HP:0025778 Thought echo HP:0025778 Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual). 2024-07-21T15:29:08Z HP:5200269 Abnormal thought pattern human_phenotype HP:0025779 Thought content disorders are determined by evaluating the meanings of thoughts. The most prominent thought content disorder seen in schizophrenia is delusions. There are overvalued thoughts at some point between normal thinking and delusion. Obsessions, mystical and metaphysical thoughts also reflect abnormal thought content. Disorder of thought content HP:0025779 Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual). PMID:36425242 An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities. 2024-07-21T16:05:20Z HP:5200275 human_phenotype Abnormal energy Abnormal motivation HP:0025780 Abnormal volitional state HP:0025780 Increased rate or speed of thoughts. 2024-08-03T09:38:59Z Abnormally rapid thought processes Rapid thought process human_phenotype HP:0025781 Abnormally rapid thought process HP:0025781 Abnormally rapid thought processes Persistent abnormalities in sentence structure exceeding that of the context and background culture of the person. 2024-08-03T09:59:36Z human_phenotype HP:0025782 Syntax refers to the set of rules, principles, and processes that govern the structure of sentences in a particular language, including word order and the arrangement of phrases and clauses. Abnormal syntax occurs when the structure of a sentence deviates from the standard or expected patterns of word order and phrase arrangement in a given language. For example, in English, the typical word order for a declarative sentence is Subject-Verb-Object (SVO). An abnormal syntax could be: To the store I went (instead of I went to the store). In contrast, abnormal grammar would include a sentence such as She reading a books (the verb is is missing, and books should be singular). Abnormal syntax HP:0025782 The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used. 2024-08-03T10:05:59Z human_phenotype HP:0025783 Diagnostic behavioral phenotype HP:0025783 Speech that consists of a series of recognizable words that are randomly strung together with no meaningful connection. 2024-08-03T10:08:53Z Random stream of words with no logic human_phenotype HP:0025784 Vocalizations that appear to be attempts to speak but are often incomprehensive, unique words may be vocalized but are seemingly random with no logical connection from one to the next. Word salad HP:0025784 Preoccupations refers to being absorbed in any particular thought, activity, or concern that captures the attention of the individual. It may have a positive or negative connotation. 2024-08-03T10:19:52Z human_phenotype HP:0025785 Abnormal preoccupation HP:0025785 Intraosseous lipomas are rare benign lesions composed of mature fat that reside within the intramedullary canal. 2024-08-03T13:40:32Z Bone lipoma Bony lipoma Intra-osseous lipoma Lipoma of bone human_phenotype HP:0025786 They account for an estimated 0.1% of primary bone tumours. No age or sex predilection has been reported. These tumours are often asymptomatic and generally are discovered incidentally on imaging, particularly MRI. Symptomatic intraosseous lipomas typically present with pain, local swelling, or tenderness. The metaphysis of long bones and the calcaneus are the most common locations. Intraosseous lipoma HP:0025786 Intraosseous lipomas are rare benign lesions composed of mature fat that reside within the intramedullary canal. PMID:27298943 Intense and typically recurring sexual arousal to atypical objects, fantasies, places, or individuals that frequently, but not always, lead to engagement of non-conventional sexual acts. This is a broad class of desires and behaviors that may include innocuous fetish behavior to illegal behaviors involving non-consenting individuals. 2024-08-04T09:16:16Z Paraphilias human_phenotype HP:0025787 Paraphilia HP:0025787 A characteristic of a lesion on radiography. 2024-08-06T06:13:18Z Radiographic quality human_phenotype HP:0025788 Radiographic modifier HP:0025788 Applies to a lesion that allows x-rays to penetrate through them and expose the receptor (radiolucency). Soft tissues appear black or dark on the processed radiograph and are called radiolucent. 2024-08-06T06:15:47Z Radiolucent appearance Radiolucent character human_phenotype HP:0025789 Radiolucent HP:0025789 Applies to a lesion that attenuates X-rays and appears radiodense (white) on a radiograph. 2024-08-06T06:19:10Z human_phenotype HP:0025790 Radiodense HP:0025790 Delusional belief of one's personal guilt for an event, real or imagined, and that one caused an outcome that is somehow catastrophic. It is generally impossible or fantastical that this could have happened in the manner believed by the person, that they were somehow responsible for an event despite not be anywhere near where it allegedly occurred. 2024-08-06T06:59:24Z human_phenotype HP:0025791 Delusion of guilt HP:0025791 An abnormal cognitive process can be defined as a deviation from the typical development, structural organization, or functional execution of mental operations that connect informational inputs to behavioral outputs, typically involve at least one of the following processes: perception, memory, learning, emotion, intentionality, self-representation, rationality, and decision-making. 2024-08-07T17:25:08Z human_phenotype HP:0025792 Definition adapted from Newen A (2017) What are cognitive processes? An example-based approach. Synthese 194:4251-4268. Abnormal cognitive process HP:0025792 An abnormal change in libido (sexual desire), typically accompanied by an altered frequency of sexual activity compared to from a person's previous norm. 2024-08-08T06:37:22Z human_phenotype HP:0025793 Note that while HP:0031845 'Abnormal libido' refers to any deviation from the normal sexual drive or desire for sexual activity, the current term refers to a change of libido compared to the previous norm for an individual. Abnormal change in sexual drive HP:0025793 Expression of major histocompatibility complex class I molecules at the cell surface is below the lower limit of normal. 2025-03-01T11:36:34Z Reduced cell surface expression of class I HLA antigens human_phenotype HP:0025794 Reduced MHC I cell surface expression HP:0025794 Any kind of test for an infectious agent in the urine positive (abnormal). 2025-03-01T11:54:33Z human_phenotype HP:0025795 Positive urine infectious agent test HP:0025795 Demonstration of an antigen specific to Legionella pneumophila in urine. 2025-03-01T11:56:00Z human_phenotype HP:0025796 Positive urine Legionella pneumophila antigen test HP:0025796 A form of sensorineural hearing impairment that affects one ear. 2025-03-01T12:06:48Z human_phenotype HP:0025797 Unilateral sensorineural hearing impairment HP:0025797 A form of sensorineural hearing impairment that affects one ear. PMID:36630865 Any structural anomaly of the wrist. 2025-03-01T12:11:21Z human_phenotype HP:0025798 Abnormal wrist morphology HP:0025798 Any functional anomaly of the wrist. 2025-03-01T12:12:00Z human_phenotype HP:0025799 Abnormal wrist physiology HP:0025799 Subjective or objective feeling of clunking/clicking in the wrist with movement, wrist giving way or difficulty twisting objects. 2025-03-01T12:12:44Z human_phenotype HP:0025800 This finding may be observed with conditions such as perilunate dislocation, carpal instability nondissociative, and scapholunate advanced collapse. Wrist instability HP:0025800 Elevation of the nail from the nail bed. 2025-03-01T12:20:53Z human_phenotype HP:0025801 Nail elevation HP:0025801 Inversion of the foot, resulting in the outer side of the sole only touching the ground; usually some degree of talipes equinus is associated with it, and often talipes cavus. 2025-03-01T12:22:37Z Pes adductus Pes varus human_phenotype HP:0025802 This finding is a component of clubfoot (talipes equinovarus). Talipes varus HP:0025802 Inversion of the foot, resulting in the outer side of the sole only touching the ground; usually some degree of talipes equinus is associated with it, and often talipes cavus. PMID:22887726 Applies to pain that colocalizes with lesions in the skin or mucous membranes. 2025-03-01T12:27:12Z Skin or mucosal lesions painful human_phenotype HP:0025803 Mucocutaneous lesion painful HP:0025803 Applies to pain that is localizes to a swollen lymph node. 2025-03-01T12:34:52Z Lymph node pain human_phenotype HP:0025804 Painful lymphadenopathy HP:0025804 Absence of detectable circulating T cells, commonly characterized as CD3+ lymphocytes, in the blood. These may include both TCR alpha/beta and gamma/delta T cells. Usually, less than 50 T cells per microlitre is considered to be an absence. 2025-04-17T10:20:11Z human_phenotype HP:0025805 Absent circulating T cells HP:0025805 Absence of detectable circulating T cells, commonly characterized as CD3+ lymphocytes, in the blood. These may include both TCR alpha/beta and gamma/delta T cells. Usually, less than 50 T cells per microlitre is considered to be an absence. PMID:32569607 HP:0010975 2025-04-17T10:44:44Z human_phenotype HP:0025806 obsolete Abnormal total B cell count true HP:0025806 Abnormal decrease of NK cell degranulation in response to stimulation, commonly measured through surface CD107a expression in response to cocultivation with a murine cell line. Other methods may be used by different laboratories. 2025-04-17T10:49:32Z human_phenotype HP:0025807 Decreased natural killer cell degranulation HP:0025807 Abnormal decrease of NK cell degranulation in response to stimulation, commonly measured through surface CD107a expression in response to cocultivation with a murine cell line. Other methods may be used by different laboratories. PMID:32569607 Abnormal decrease of natural killer (NK) cell cytotoxicity. Assaying NK cytotoxicity involves coculturing NK calls with target cells and measuring the extent of cell death by methods such as luminescence-based (luciferase) assays, biophotonic assays, and flow cytometry-based Cr-release assays. 2025-04-17T11:44:15Z human_phenotype HP:0025808 Decreased natural killer cell-induced killing of target cells HP:0025808 Abnormal decrease of natural killer (NK) cell cytotoxicity. Assaying NK cytotoxicity involves coculturing NK calls with target cells and measuring the extent of cell death by methods such as luminescence-based (luciferase) assays, biophotonic assays, and flow cytometry-based Cr-release assays. PMID:22258454 Desquamation (scaling) involving nearly all of the surface of the skin. 2025-04-17T16:10:20Z Diffuse desquamation Diffuse scaling human_phenotype HP:0025809 Figure 1A of PMID:24506793 shows an infant with generalized (fine) scaling of skin. Generalized scaling HP:0025809 Desquamation (scaling) involving nearly all of the surface of the skin. PMID:24506793 A type of ichthyosis characterized by migratory, annular and polycyclic erythematous patches with double-edged scales at the periphery of the lesions. 2025-04-17T16:14:38Z Serpiginous scaling Double-edged scaling human_phenotype HP:0025810 The erythematous patch (flat area of redness 1 cm or more in width) that is ring-shaped (annular) or serpiginous (with multiple ring-shaped lesions (polycyclic). The lesions are bordered by two distinct rings of scale at their outer edges (double-edged). The distribution of the lesions changes with time (migratory). Ichthyosis linearis circumflexa (ILC) may rarely be observed as an isolated lesion, but is a characteristic manifestation of Netherton syndrome. Lesions are often described as serpiginous scaling or double-edged scaling. Ichthyosis linearis circumflexa HP:0025810 A type of ichthyosis characterized by migratory, annular and polycyclic erythematous patches with double-edged scales at the periphery of the lesions. PMID:25710899 A type of hair shaft dysmorphology in which the proximal part of the hair shaft overlaps the distal part, showing a bamboo-like appearance. This feature is pathognomic for Netherton syndrome, and can be ascertained by light microscopy. 2025-04-17T16:19:19Z Bamboo hair Helical hair human_phenotype HP:0025811 Mostly, these hairs are fragile, short, and brittle. A longitudinal twist in the hair shaft may be seen, known as a helical hair. Trichorrhexis invaginata HP:0025811 A type of hair shaft dysmorphology in which the proximal part of the hair shaft overlaps the distal part, showing a bamboo-like appearance. This feature is pathognomic for Netherton syndrome, and can be ascertained by light microscopy. PMID:32029302 PMID:34659759 Fine white-greasy scales on scalp. 2025-04-24T15:23:10Z Seborrhoeic scales on scalp human_phenotype HP:0025812 Seborrhoeic scales on scalp are mainly related to overgrowth of Malassezia Furfur species in association with seborrheic dermatitis, but are also seen in many other diseases. Seborrheic scales can also be seen on different parts of the body and face. Seborrheic scales on scalp HP:0025812 Seborrhoeic scales on scalp Loss of the outer layer of the epidermis in the area of the eyebrow in large, scale-like flakes. 2025-04-24T15:44:14Z Scales on eyebrows human_phenotype HP:0025813 Size of scaling can be variable from fine-white to thick scaling. Sscales on eyebrows are often related to seborrheic dermatitis, psoriasis, ichthyosis, etc. Eyebrow scaling skin HP:0025813 The stratum granulosum of the epidermis (granular layer) displays areas of discontinuity. 2025-04-24T15:47:55Z Patchy granular layer of the skin human_phenotype HP:0025814 Patchy stratum granulosum of epidermis HP:0025814 The stratum granulosum of the epidermis (granular layer) displays areas of discontinuity. PMID:11123448 Patchy granular layer of the skin The stratum granulosum of the epidermis (granular layer) cannot be observed. 2025-04-24T15:49:46Z Absent granular layer of skin human_phenotype HP:0025815 This finding can be ascertained by microscopy of a skin biopsy specimen and may be acquired or congenital. Absent stratum granulosum of epidermis HP:0025815 The height (thickness) of the stratum granulosum of the epidermis (granular layer) is below the lower limit of normal but the stratum granulosum is visible. 2025-04-24T15:54:53Z Diminished granular layer Reduced granular layer human_phenotype HP:0025816 Hypogranulosis HP:0025816 The height (thickness) of the stratum granulosum of the epidermis (granular layer) is below the lower limit of normal but the stratum granulosum is visible. PMID:34611907 A type of epidermal acanthosis characterized by regular elongated rete ridges. 2025-04-24T15:58:55Z Psoriasiform acanthosis Psoriasiform epidermal hyperplasia Psoriasiform epidermis Psoriasiform hyperplasia human_phenotype HP:0025817 Because of elongated rete ridges, this is different from common epidermal acanthosis. The etiology in cases with psoriasiform acanthosis is wide, such as: psoriasis, pustular psoriasis, Reiter syndrome, pityriasis rubra pilaris, parapsoriasis, lichen simplex chronicus, erythroderma, mycosis fungoides, chronic candidosis, Norwegian scabies, Bowen disease, clear cell acanthoma, lamellar ichthyosis, pityriasis rosea, acrodermatitis enteropathica, and secondary syphilis. In psoriasis, usually characterized by psoriasiform acanthosis, no significant hyperplasia can be seen in early lesions. Diagnosis is often made with other histological features and with clinicopathological correlation. Psoriasiform acanthosis HP:0025817 Infiltrating neutrophils in the epidermis, mostly into the stratum corneum. Characteristic for psoriasis. 2025-04-24T16:10:17Z human_phenotype HP:0025818 In the stratum corneum, they are called Munro microabscesses, often present in psoriasis and geographic tongue. In pustular psoriasis, the neutrophils extend to the suprabasal layer, forming spongiosis, so-called Kogoj spongiform pustule. Intraepidermal microabscess formation HP:0025818 Infiltrating neutrophils in the epidermis, mostly into the stratum corneum. Characteristic for psoriasis. PMID:31942132 Splitting within the the upper lyer (stratum corneum) of the epidermis clinically characterized by shedding of dead cells from the outermost layer of skin. 2025-04-24T16:20:22Z Palmoplantar desquamation Palmoplantar keratolysis human_phenotype Dyshidrosis lamellosa sicca Exfoliative keratolysis Focal palmoplantar peeling HP:0025819 Palmoplantar peeling HP:0025819 The parents of the index patient are related as second cousins or closer. 2025-04-24T16:26:47Z Consanguineous human_phenotype HP:0025820 Consanguinity has a major role in congenital and genetic diseases. Offspring of consanguineous relationship HP:0025820 Redness of the skin of the lower eyelid, caused by hyperemia of the capillaries in the lower layers of the skin. 2025-04-26T12:19:12Z human_phenotype HP:0025821 Lower eyelid erythema HP:0025821 Redness of the skin of the upper eyelid, caused by hyperemia of the capillaries in the lower layers of the skin. 2025-04-26T12:20:02Z human_phenotype HP:0025822 Upper eyelid erythema HP:0025822 Abnormal result of a physical test of the shoulder that attempts to provoke pain in order to diagnosis a specific injury. 2025-04-26T12:29:41Z human_phenotype HP:0025823 Positive provocative functional shoulder test HP:0025823 Abnormal result of a physical test of the shoulder that attempts to provoke pain in order to diagnosis a specific injury. PMID:36277881 Abnormal decrease of neutrophil phagocytic activity, commonly measured after stimulation with E. coli using flow cytometry. 2025-04-27T05:20:38Z human_phenotype HP:0025824 Decreased neutrophil phagocytosis HP:0025824 Abnormal decrease of neutrophil phagocytic activity, commonly measured after stimulation with E. coli using flow cytometry. PMID:33679791 Abnormal decrease of neutrophil adhesion capacity, commonly measured as surface expression of CD18, CD11a or CD11b using flow cytometry. 2025-04-27T05:27:38Z HP:0033798 human_phenotype Impaired leukocyte adhesion HP:0025825 Neutrophil firm adhesion to endothelial cells (EC) is a highly regulated process and plays an essential role in inflammatory responses3,4. The firm adhesion of neutrophil follows initial neutrophil rolling and capture on the EC and ultimately can result in transmigration in vivo. Decreased neutrophil adhesion HP:0025825 Abnormal decrease of neutrophil adhesion capacity, commonly measured as surface expression of CD18, CD11a or CD11b using flow cytometry. PMID:19037827 PMID:23351991 PMID:25045887 Severe decrease in circulating neutrophils, usually characterized as fewer than 500 neutrophils per microlitre. 2025-04-27T05:31:54Z human_phenotype HP:0025826 Severely decreased neutrophil count HP:0025826 Abnormal increase or decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:18:16Z human_phenotype HP:0025827 Type 1 T helper (Th1) cells produce interferon-gamma, interleukin (IL)-2, and tumour necrosis factor (TNF)-beta, which activate macrophages and are responsible for cell-mediated immunity and phagocyte-dependent protective responses. This term is placed under physiology because the cells are typically measured following stimulation. Abnormal Th1 T cell proportion HP:0025827 Abnormal increase or decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. PMID:10579123 Abnormal increase of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:20:27Z human_phenotype HP:0025828 Increased Th1 T cell proportion HP:0025828 Abnormal increase of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. PMID:10579123 Abnormal decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:20:37Z human_phenotype HP:0025829 Decreased Th1 T cell proportion HP:0025829 Abnormal decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories. PMID:10579123 Abnormal increase or decrease of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:23:08Z human_phenotype HP:0025830 TH17 cells are interleukin-17-producing CD4+ T cells. Abnormal Th17 T cell proportion HP:0025830 Abnormal increase or decrease of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories. PMID:36596896 Abnormal increase of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:24:27Z human_phenotype HP:0025831 Increased Th17 T cell proportion HP:0025831 Abnormal decrease of Th17 cells, commonly characterized through the intracellular synthesis of IL-17 or surface expression of CCR6, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies, the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin, or staphylococcal enterotoxin B (SEB). Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:24:33Z human_phenotype HP:0025832 Decreased Th17 T cell proportion HP:0025832 Abnormal decrease of T cell proliferation in response to phorbol-12-myristate-13-acetate (PMA) and ionomycin stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories. 2025-04-27T06:35:39Z Decreased proliferation in response to PMA/ionomycin human_phenotype HP:0025833 Decreased PMA/ionomycin-induced T-cell proliferation HP:0025833 Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. 2025-04-27T06:36:31Z HP:0003347 Decreased PHA-induced T-cell proliferation Decreased proliferation in response to PHA Impaired T lymphocyte transformation with phytohemagglutinin Impaired lymphocyte transformation with phytohemagglutinin human_phenotype HP:0025834 Impaired phytohemagglutinin-induced T lymphocyte transformation HP:0025834 Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. PMID:36393975 Abnormal decrease of CD8-positive T cell degranulation in response to stimulation, commonly measured through surface CD107a expression in response to cocultivation with a murine cell line. Other methods may be used by different laboratories. 2025-04-27T06:37:24Z human_phenotype HP:0025835 Decreased CD8+ T cell degranulation HP:0025835 Abnormal increase of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2025-04-27T06:44:29Z Elevated CD8+ T cell percentage Increased CD8 percentage human_phenotype HP:0025836 Increased total CD8+ T cell proportion HP:0025836 Abnormal increase or decrease of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2025-04-27T06:48:55Z Abnormal proportion of RTE CD4+ T cells human_phenotype HP:0025837 Abnormal RTE CD4+ T cell proportion HP:0025837 Abnormal increase of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2025-04-27T06:49:14Z Increased proportion of RTE CD4+ T cells human_phenotype HP:0025838 Increased RTE CD4+ T cell proportion HP:0025838 Abnormal decrease of the recent thymic emmigrant (RTE) CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, with the necessary expression of CD31+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2025-04-27T06:49:20Z Decreased proportion of RTE CD4+ T cells human_phenotype HP:0025839 Decreased RTE CD4+ T cell proportion HP:0025839 Abnormal increase or decrease of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-04-27T06:50:27Z Abnormal HLA DR+ CD4+ T cell proportion Abnormal proportion of HLA DR+ CD4+ T cells human_phenotype HP:0025840 Abnormal HLA-DR+ CD4+ T cell proportion HP:0025840 Abnormal reduction of the activated HLA-DR+ CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-04-27T06:52:05Z Decreased HLA DR+ CD4+ T cell proportion human_phenotype HP:0025841 Decreased HLA-DR+ CD4+ T cell proportion HP:0025841 Abnormal increase or decrease of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-04-27T07:13:50Z Abnormal proportion of HLA DR+ CD8+ T cells human_phenotype HP:0025842 Abnormal HLA-DR+ CD8+ T cell proportion HP:0025842 Abnormal increase of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-04-27T07:14:43Z human_phenotype HP:0025843 Increased HLA-DR+ CD8+ T cell proportion HP:0025843 Abnormal decrease of the activated HLA-DR+ CD8+ T cell subpopulation, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2025-04-27T07:14:49Z human_phenotype HP:0025844 Decreased HLA-DR+ CD8+ T cell proportion HP:0025844 Abnormal distribution of the TCR repertoire expressed on T cells. This usually means oligoclonality (fewer TCR clonotypes compared to a healthy age-matched control) or monoclonality (one dominant TCR clone detected). This may be measured through different methods depending on the lab, but commonly include TCR spectratyping or TCRB CDR3 sequencing. 2025-04-27T07:17:07Z human_phenotype HP:0025845 Abnormal TCR repertoire HP:0025845 Abnormal decrease of intracellular expression of perforin within NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, ex vivo. 2025-05-01T08:37:44Z Decreased NK cell perforin expression human_phenotype HP:0025846 Decreased natural killer cell perforin expression HP:0025846 Hypersensitivity in form of an adverse immune reaction against fish. 2025-05-01T08:48:49Z human_phenotype HP:0025847 Fish allergy HP:0025847 Hypersensitivity in form of an adverse immune reaction against fish. PMID:16426002 Hypersensitivity in form of an adverse immune reaction against shellfish (an aquatic shelled mollusc such as an oyster or mussel, or a crustacean such as a crab or shrimp). 2025-05-02T11:49:52Z human_phenotype HP:0025848 Shellfish allergy HP:0025848 Refers to findings sich as paresthesias or weakness that are distributed according to the anatomical location of a periperipheral nerve. 2025-05-04T13:10:27Z human_phenotype HP:0025849 Localized along nerve distribution HP:0025849 2025-05-06T09:13:55Z Abnormal joint cavity morphology human_phenotype HP:0025850 Abnormal synovial cavity morphology HP:0025850 Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. UMLS:C4022681 human_phenotype HP:0030000 EMG: repetitive nerve stimulation abnormality HP:0030000 Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz. HPO_CONTRIBUTOR:UToronto_htrang A condition in which the eyelids do not close to cover the eye completely. UMLS:C4022680 Eyelids stay open Inability to close the eyelids human_phenotype HP:0030001 Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. Lagophthalmos HP:0030001 A condition in which the eyelids do not close to cover the eye completely. PMID:20590416 Eyelids stay open https://orcid.org/0000-0001-5889-4463 Inability to close the eyelids https://orcid.org/0000-0001-5889-4463 Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. PMID:20590416 The inability to close the eyelids during sleep. SNOMEDCT_US:417740005 UMLS:C1563118 Eyelids stay open at night Inability to close the eyelids at night human_phenotype HP:0030002 Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. Nocturnal lagophthalmos HP:0030002 The inability to close the eyelids during sleep. PMID:16671223 Eyelids stay open at night https://orcid.org/0000-0001-5889-4463 Inability to close the eyelids at night https://orcid.org/0000-0001-5889-4463 Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. PMID:16671223 A type of lagophthalmos that occurs in association with facial nerve palsy. SNOMEDCT_US:59890007 UMLS:C0155197 human_phenotype HP:0030003 Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. Paralytic lagophthalmos HP:0030003 A type of lagophthalmos that occurs in association with facial nerve palsy. PMID:24618488 Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. PMID:24618488 A type of lagophthalmos that occurs following trauma or surgery. SNOMEDCT_US:9042000 UMLS:C0155199 Eyelids stay open due to scarring Inability to close the eyelids due to scarring human_phenotype HP:0030004 Cicatricial lagophthalmos HP:0030004 Eyelids stay open due to scarring https://orcid.org/0000-0001-5889-4463 Inability to close the eyelids due to scarring https://orcid.org/0000-0001-5889-4463 An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. SNOMEDCT_US:1608005 SNOMEDCT_US:87730004 UMLS:C0343084 UMLS:C1382398 Increased capillary permeability human_phenotype Systemic capillary leak syndrome HP:0030005 Capillary leak HP:0030005 An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. PMID:24467750 PMID:24808988 Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. UMLS:C4022679 Single fibre EMG abnormality human_phenotype HP:0030006 Single fiber EMG abnormality HP:0030006 Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers. PMID:21654930 https://orcid.org/0000-0002-0736-9199 Single fibre EMG abnormality These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. SNOMEDCT_US:251527008 UMLS:C0429349 human_phenotype HP:0030007 EMG: positive sharp waves HP:0030007 These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. PMID:15961866 Congenital absence of the uterine cervix. SNOMEDCT_US:37687000 UMLS:C0266404 Absent cervix Aplasia of the cervix Cervical aplasia human_phenotype HP:0030008 Cervical agenesis HP:0030008 Absent cervix https://orcid.org/0000-0001-5208-3432 A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent SNOMEDCT_US:17382005 UMLS:C0007871 Incompetent cervix human_phenotype HP:0030009 One of the known risk factors for preterm birth is cervical insufficiency. Cervical insufficiency HP:0030009 A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent PMID:17490914 PMID:20643692 One of the known risk factors for preterm birth is cervical insufficiency. PMID:17490914 PMID:20643692 Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. SNOMEDCT_US:60023006 UMLS:C0269209 human_phenotype HP:0030010 Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. Hydrometrocolpos HP:0030010 Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. PMID:24046799 Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. PMID:24046799 A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. SNOMEDCT_US:65937002 UMLS:C0152436 human_phenotype HP:0030011 Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. Imperforate hymen HP:0030011 A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. PMID:24822139 Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. PMID:24822139 UMLS:C4020714 UMLS:C4022678 Abnormal female reproductive system physiology human_phenotype Abnormal female genital system physiology HP:0030012 Abnormal female reproductive system physiology HP:0030012 Abnormal female reproductive system physiology Abnormal female genital system physiology HP:0030127 human_phenotype HP:0030013 obsolete Endometriosis true HP:0030013 A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity UMLS:C1112442 human_phenotype HP:0030014 Female sexual dysfunction HP:0030014 A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity PMID:26953829 The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. Female orgasmic disorder SNOMEDCT_US:60103007 UMLS:C0033948 UMLS:C4022677 human_phenotype HP:0030015 Female anorgasmia HP:0030015 The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. PMID:16391543 Female orgasmic disorder Recurrent or persistent genital pain associated with sexual intercourse. SNOMEDCT_US:71315007 UMLS:C1384606 human_phenotype HP:0030016 In females, dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. In males, dyspareunia may be related to conditions of the prepuce, glans penis, penile shaft, testicles, and urethra and prostate gland. Dyspareunia HP:0030016 Recurrent or persistent genital pain associated with sexual intercourse. PMID:1225983 PMID:16391543 Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. SNOMEDCT_US:79012001 UMLS:C2004487 Myalgia of pelvic floor Pelvic floor myalgia human_phenotype HP:0030017 Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors. Vaginismus HP:0030017 Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress. PMID:16391543 Diminished sexual desire in female. UMLS:C4022676 Decreased female sex drive human_phenotype HP:0030018 Decreased female libido HP:0030018 Decreased female sex drive https://orcid.org/0000-0001-5208-3432 Elevated sexual desire in female UMLS:C4022675 Increased female sex drive human_phenotype HP:0030019 Increased female libido HP:0030019 Increased female sex drive https://orcid.org/0000-0001-5208-3432 Small protrusion within the pinna. UMLS:C4022674 human_phenotype HP:0030021 The tag can be located on either side of the pinna. Auricular tag HP:0030021 Small protrusion within the pinna. PMID:19152421 eom:1b6d89bad30b8f18 Cleft between the helix and the lobe. UMLS:C3888103 Constricted ear Cosman ear Question mark ear Question mark ears human_phenotype HP:0030022 Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. Question mark ear HP:0030022 Cleft between the helix and the lobe. PMID:19152421 eom:cffbc3de49dbb172 Question mark ear Question mark ears https://orcid.org/0000-0002-5316-1399 Small cartilaginous prominence on the posterior concha. UMLS:C4022673 human_phenotype HP:0030023 This feature is best visualized when the earlobe is tilted anteriorly. Quelprud nodule HP:0030023 Small cartilaginous prominence on the posterior concha. PMID:19152421 eom:193d1645eb4eced8 Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. SNOMEDCT_US:204245004 UMLS:C0266609 Extra cartilage in front of the ear human_phenotype Pretragal Duplication HP:0030024 Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. Pretragal ectopia HP:0030024 Variably shaped, cartilage-containing tissue anterior to the external auditory meatus. eom:095679c21044c851 Extra cartilage in front of the ear https://orcid.org/0000-0001-5889-4463 Small indentation in the lower part of the ascending helix, concha, or in the crus helix. UMLS:C4022672 human_phenotype HP:0030025 The location of the pits is the plane of fusion of the first branchial cleft. Auricular pit HP:0030025 Small indentation in the lower part of the ascending helix, concha, or in the crus helix. PMID:19152421 eom:1fe5d46deac24493 Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. UMLS:C4022671 human_phenotype HP:0030026 This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix. Squared superior portion of helix HP:0030026 Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. PMID:19152421 eom:ddce48fcd9ee46f4 A morphological anomaly of the nasal cartilage. UMLS:C4022670 Abnormality of cartilage of nose Abnormality of the nasal cartilage Anomaly of cartilage of nose Anomaly of nasal cartilage Deformity of cartilage of nose Deformity of nasal cartilage Malformation of cartilage of nose Malformation of nasal cartilage human_phenotype HP:0030027 Abnormal nasal cartilage morphology HP:0030027 Abnormality of cartilage of nose https://orcid.org/0000-0001-5889-4463 Abnormality of the nasal cartilage Anomaly of cartilage of nose https://orcid.org/0000-0001-5889-4463 Anomaly of nasal cartilage https://orcid.org/0000-0001-5889-4463 Deformity of cartilage of nose https://orcid.org/0000-0001-5889-4463 Deformity of nasal cartilage https://orcid.org/0000-0001-5889-4463 Malformation of cartilage of nose https://orcid.org/0000-0001-5889-4463 Malformation of nasal cartilage https://orcid.org/0000-0001-5889-4463 Lack of a palpable nasal cartilage. SNOMEDCT_US:232381002 UMLS:C4022669 UMLS:C4082198 Absent cartilage of nose Absent nasal cartilage Agenesis of cartilage of nose Agenesis of nasal cartilage Failure of development of cartilage of nose Failure of development of nasal cartilage Missing cartilage of nose Missing nasal cartilage human_phenotype HP:0030028 This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. Absent nasal cartilage HP:0030028 Lack of a palpable nasal cartilage. PMID:19152422 eom:73e4e8bb2eec316d Absent cartilage of nose https://orcid.org/0000-0001-5889-4463 Absent nasal cartilage Agenesis of cartilage of nose https://orcid.org/0000-0001-5889-4463 Agenesis of nasal cartilage https://orcid.org/0000-0001-5889-4463 Failure of development of cartilage of nose https://orcid.org/0000-0001-5889-4463 Failure of development of nasal cartilage https://orcid.org/0000-0001-5889-4463 Missing cartilage of nose https://orcid.org/0000-0001-5889-4463 Missing nasal cartilage https://orcid.org/0000-0001-5889-4463 Divergence of digits along the A/P axis (in the plane of the palm). UMLS:C4021057 Splayed fingers Spreading of the fingers human_phenotype HP:0030029 This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified. Splayed fingers HP:0030029 Divergence of digits along the A/P axis (in the plane of the palm). PMID:19125433 eom:ebc67f029da3caac Splayed fingers Spreading of the fingers The absence of all phalanges of a digit and the associated metacarpal /metatarsal. UMLS:C4022668 human_phenotype HP:0030030 This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. Absent ray HP:0030030 The absence of all phalanges of a digit and the associated metacarpal /metatarsal. PMID:19125433 eom:603438e0616f4f69 Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. UMLS:C4022667 Small toe human_phenotype HP:0030031 This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. Small toe HP:0030031 Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual. PMID:19125433 eom:4d06c726e63758c5 Small toe An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. UMLS:C4022666 Partial absence of foot human_phenotype HP:0030032 Partial absence of foot HP:0030032 An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. PMID:19125433 eom:6a2c173d3d7e3219 Partial absence of foot Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. SNOMEDCT_US:299058009 UMLS:C0575827 Small finger human_phenotype HP:0030033 This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. Small finger HP:0030033 Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. PMID:19125433 eom:5b823be1388221a1 Small finger Presence of abnormal additional layers of the basement membrane of the glomerulus. UMLS:C3278307 Lamellated/basket-woven thickened glomerular basement membranes Lamellation of the glomerular basement membrane human_phenotype HP:0030034 Glomerular basement membrane lamellation HP:0030034 Presence of abnormal additional layers of the basement membrane of the glomerulus. PMID:10199473 PMID:12089752 https://orcid.org/0000-0003-2356-950X Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones). UMLS:C4021056 Struvite kidney stones human_phenotype HP:0030035 Struvite nephrolithiasis HP:0030035 Inability of the kidneys to produce either concentrated or dilute urine. UMLS:C4022665 human_phenotype HP:0030036 Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. Isothenuria HP:0030036 Incomplete duplication of the ureter. UMLS:C3887498 human_phenotype HP:0030037 Bifid ureter HP:0030037 Incomplete duplication of the ureter. PMID:23513084 A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. SNOMEDCT_US:31186001 SNOMEDCT_US:423699002 UMLS:C1704356 human_phenotype HP:0030038 Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins. Enchondroma HP:0030038 A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. UMLS:C4022664 human_phenotype HP:0030039 Fused thoracic vertebrae HP:0030039 A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another. UMLS:C4022663 human_phenotype HP:0030040 Fused lumbar vertebrae HP:0030040 A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. SNOMEDCT_US:45181002 UMLS:C0410632 Schmorl's nodes human_phenotype HP:0030041 Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. Schmorl's node HP:0030041 A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. PMID:22544358 Schmorl's nodes https://orcid.org/0000-0002-5316-1399 Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. PMID:22544358 Failure to complete ossification (maturation and calcification) of the pubic bone. SNOMEDCT_US:373940002 UMLS:C0685678 human_phenotype Incomplete maturation of the pubic bone HP:0030042 Incomplete ossification of pubis HP:0030042 Incomplete maturation of the pubic bone https://orcid.org/0000-0001-5208-3432 A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. SNOMEDCT_US:263057000 UMLS:C0434785 Partial hip dislocation Subluxation involving the hip joint human_phenotype HP:0030043 Hip subluxation HP:0030043 Partial hip dislocation https://orcid.org/0000-0001-5208-3432 A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. UMLS:C1839864 human_phenotype HP:0030044 Flexion contracture of digit HP:0030044 Elongated curved (S-shaped) fibulae. UMLS:C3805325 S-shaped calf bone human_phenotype HP:0030045 Serpentine fibula HP:0030045 Elongated curved (S-shaped) fibulae. PMID:21712856 PMID:3409932 S-shaped calf bone https://orcid.org/0000-0001-5208-3432 A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. UMLS:C4015098 human_phenotype HP:0030046 Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. Hypoglycosylation of alpha-dystroglycan HP:0030046 A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. PMID:18691338 Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. PMID:18691338 A morphological anomaly of the lateral ventricle. UMLS:C4022662 Abnormality of lateral ventricle human_phenotype HP:0030047 There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle. Abnormal lateral ventricle morphology HP:0030047 Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. SNOMEDCT_US:253160006 UMLS:C0431384 human_phenotype HP:0030048 Colpocephaly HP:0030048 Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. PMID:4058748 A collection of pus, immune cells, and other material in the brain. SNOMEDCT_US:441806004 UMLS:C0006105 Brain abscess human_phenotype HP:0030049 Brain abscess usually results from a bacterial or fungal infection. Brain abscess HP:0030049 Brain abscess HP:0002524 human_phenotype HP:0030050 obsolete Narcolepsy true HP:0030050 An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. HP:0002394 HP:0040083 UMLS:C1843570 Tiptoe gait Toe walking Walking on tiptoes human_phenotype HP:0030051 Tip-toe walking (or simply toe-walking) is common in healthy young children, and should resolve spontaneously by 3 years of age. After this age, tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. Tip-toe gait HP:0030051 An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. PMID:24757457 PMID:26709689 Toe walking Walking on tiptoes The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. UMLS:C1834297 Freckles in groin region human_phenotype HP:0030052 Inguinal freckling HP:0030052 Freckles in groin region https://orcid.org/0000-0001-5208-3432 An induration (hardening) of the skin UMLS:C3276815 Indurated skin Skin induration Stiff skin human_phenotype HP:0030053 Stiff skin HP:0030053 Stiff skin Presence of excess fibrous connective tissue surrounding hair follicules. UMLS:C2748531 human_phenotype HP:0030054 Perifollicular fibrosis HP:0030054 When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity. UMLS:C4022661 human_phenotype HP:0030055 Hyperconvex toenail HP:0030055 Hair that is disorderly, stands out from the scalp, and cannot be combed flat. UMLS:C1860607 Uncombable hair human_phenotype HP:0030056 Uncombable hair HP:0030056 Uncombable hair The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. UMLS:C4022660 human_phenotype HP:0030057 Autoimmune antibody positivity HP:0030057 An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). UMLS:C2237347 human_phenotype HP:0030058 Sickled erythrocytes HP:0030058 An abnormal reduction in mitochondrial DNA content of cells. UMLS:C4022659 human_phenotype HP:0030059 Mitochondrial depletion HP:0030059 An abnormal reduction in mitochondrial DNA content of cells. PMID:23385875 A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system). UMLS:C0027665 human_phenotype HP:0030060 Nervous tissue neoplasm HP:0030060 A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. SNOMEDCT_US:253096008 SNOMEDCT_US:73676002 UMLS:C0206093 human_phenotype HP:0030061 Neuroectodermal neoplasm HP:0030061 A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system. SNOMEDCT_US:189179009 SNOMEDCT_US:40009002 UMLS:C0010276 human_phenotype HP:0030062 Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm. Craniopharyngioma HP:0030062 A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system. PMID:17425791 A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium. UMLS:C0206715 human_phenotype HP:0030063 Neuroepithelial neoplasm HP:0030063 A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles. SNOMEDCT_US:128858006 UMLS:C1622510 human_phenotype HP:0030064 Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. Neurocytoma HP:0030064 A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. SNOMEDCT_US:39781001 SNOMEDCT_US:55045006 SNOMEDCT_US:699028006 UMLS:C0206663 Primitive neuroectodermal tumour human_phenotype HP:0030065 Primitive neuroectodermal tumor HP:0030065 Primitive neuroectodermal tumour A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. SNOMEDCT_US:21589007 SNOMEDCT_US:715901002 UMLS:C0700367 human_phenotype HP:0030066 Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity. Ependymoblastoma HP:0030066 A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. SNOMEDCT_US:253096008 SNOMEDCT_US:703707001 SNOMEDCT_US:73676002 UMLS:C0684337 human_phenotype HP:0030067 Peripheral primitive neuroectodermal neoplasm HP:0030067 A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. SNOMEDCT_US:422886007 SNOMEDCT_US:68614005 SNOMEDCT_US:76060004 UMLS:C0206717 human_phenotype HP:0030068 Olfactory esthesioneuroblastoma HP:0030068 A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. SNOMEDCT_US:21964009 SNOMEDCT_US:307649006 UMLS:C0280803 Primary CNS lymphoma human_phenotype HP:0030069 Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors Primary central nervous system lymphoma HP:0030069 A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. PMID:23696924 Primary CNS lymphoma A primitive neuroectodermal neoplasm that occurs in the central nervous system. SNOMEDCT_US:39781001 UMLS:C3887678 Central primitive neuroectodermal tumour human_phenotype HP:0030070 Central primitive neuroectodermal tumor HP:0030070 Central primitive neuroectodermal tumour A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. SNOMEDCT_US:39005004 SNOMEDCT_US:715903004 UMLS:C0334596 human_phenotype HP:0030071 Medulloepithelioma is a rare primitive neuroectodermal tumor of the central nervous system usually developing in childhood, displaying highly malignant behavior, with early progression or recurrence. Medulloepithelioma HP:0030071 A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. PMID:17566306 A tumor that originates in the paranasal sinus. NCIT:C3262 SNOMEDCT_US:126675008 UMLS:C0030470 Neoplasm of the paranasal sinuses Tumor of the paranasal sinuses Tumour of the paranasal sinuses human_phenotype HP:0030072 Paranasal sinus neoplasm HP:0030072 Neoplasm of the paranasal sinuses https://orcid.org/0000-0001-5889-4463 Tumor of the paranasal sinuses https://orcid.org/0000-0001-5889-4463 Tumour of the paranasal sinuses HP:0100638 human_phenotype HP:0030073 obsolete Pharyngeal neoplasm true HP:0030073 A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. SNOMEDCT_US:127028003 SNOMEDCT_US:30699005 UMLS:C0007279 Chemodectomas human_phenotype HP:0030074 Chemodectoma HP:0030074 Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. SNOMEDCT_US:109889007 SNOMEDCT_US:278053004 SNOMEDCT_US:373176000 SNOMEDCT_US:86616005 UMLS:C0007124 human_phenotype HP:0030075 Ductal carcinoma in situ HP:0030075 Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. PMID:24415964 SNOMEDCT_US:109888004 UMLS:C0279563 human_phenotype HP:0030076 Lobular carcinoma in situ HP:0030076 A tumor originating in a bronchus. NCIT:C3262 SNOMEDCT_US:126705004 UMLS:C0006264 human_phenotype HP:0030077 Bronchial neoplasm HP:0030077 NCIT:C2852 SNOMEDCT_US:254626006 UMLS:C0152013 human_phenotype HP:0030078 Lung adenocarcinoma HP:0030078 A tumor of the uterine cervix. NCIT:C3262 SNOMEDCT_US:363354003 UMLS:C4048328 human_phenotype HP:0030079 Cervix cancer HP:0030079 A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. SNOMEDCT_US:118617000 SNOMEDCT_US:22197008 SNOMEDCT_US:277571004 SNOMEDCT_US:397400006 SNOMEDCT_US:77381001 UMLS:C0006413 human_phenotype HP:0030080 Burkitt lymphoma HP:0030080 Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. UMLS:C4022658 human_phenotype HP:0030081 Punctate periventricular T2 hyperintense foci HP:0030081 Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. UMLS:C4022657 Abnormal drinking behavior Abnormal drinking behaviour human_phenotype HP:0030082 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. Abnormal drinking behavior HP:0030082 Abnormal drinking behavior Abnormal drinking behaviour Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. UMLS:C0240928 Salt craving human_phenotype HP:0030083 Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases. Salt craving HP:0030083 Salt craving An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Curvature of digit SNOMEDCT_US:17268007 UMLS:C0265610 UMLS:C4280304 Permanent curving of the finger human_phenotype HP:0030084 Clinodactyly HP:0030084 An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). PMID:16252026 Curvature of digit https://orcid.org/0000-0001-5208-3432 Permanent curving of the finger https://orcid.org/0000-0002-6548-5200 Abnormal concentration of lactate in the cerebrospinal fluid. UMLS:C4022656 Abnormal CSF lactate level human_phenotype HP:0030085 Abnormal CSF lactate concentration HP:0030085 Abnormal concentration of lactate in the cerebrospinal fluid. https://orcid.org/0000-0002-0736-9199 Decreased concentration of lactate in the cerebrospinal fluid. UMLS:C4022655 Hypolactatorachia human_phenotype HP:0030086 Reduced CSF lactate HP:0030086 An anomalous concentration of testosterone in the blood. Abnormal testosterone level SNOMEDCT_US:166458009 UMLS:C0580454 UMLS:C4022654 Abnormal serum testosterone level human_phenotype HP:0030087 Abnormal circulating testosterone concentration HP:0030087 Abnormal testosterone level https://orcid.org/0000-0002-5316-1399 An elevated circulating testosterone level in the blood. Increased testosterone UMLS:C0241358 UMLS:C4072885 High serum testosterone level High serum testosterone levels Increased serum testosterone levels human_phenotype HP:0030088 Increased serum testosterone level HP:0030088 Increased testosterone https://orcid.org/0000-0002-5316-1399 High serum testosterone level https://orcid.org/0000-0002-5316-1399 High serum testosterone levels https://orcid.org/0000-0002-5316-1399 Increased serum testosterone levels https://orcid.org/0000-0002-5316-1399 An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. UMLS:C4022653 Abnormal muscle fibre protein expression human_phenotype HP:0030089 Abnormal muscle fiber protein expression HP:0030089 Abnormal muscle fibre protein expression An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. UMLS:C4022652 Abnormal muscle fibre merosin expression human_phenotype HP:0030090 Abnormal muscle fiber merosin expression HP:0030090 An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve. PMID:2185464 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre merosin expression Lack of merosin protein in the muscle biopsy. UMLS:C4021055 Absent merosin staining in muscle biopsy Absent muscle fiber laminin alpha 2 Absent muscle fibre laminin alpha 2 Absent muscle fibre merosin human_phenotype HP:0030091 Absent muscle fiber merosin HP:0030091 Absent muscle fibre laminin alpha 2 Absent muscle fibre merosin A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. UMLS:C4022651 Reduced muscle fibre merosin human_phenotype HP:0030092 Reduced muscle fiber merosin HP:0030092 A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. https://orcid.org/0000-0002-0736-9199 Reduced muscle fibre merosin A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. UMLS:C4022650 Abnormal muscle fibre laminin beta 1 human_phenotype HP:0030093 Abnormal muscle fiber laminin beta 1 HP:0030093 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. HPO_CONTRIBUTOR:UToronto_htrang PMID:9400354 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre laminin beta 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1. UMLS:C4022649 Reduced muscle fibre laminin beta 1 human_phenotype HP:0030094 Reduced muscle fiber laminin beta 1 HP:0030094 Reduced muscle fibre laminin beta 1 A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. UMLS:C4021054 Reduced collagen 6 in muscle Reduced collagen VI immunolabeling in muscle biopsy human_phenotype HP:0030095 Reduced muscle collagen VI HP:0030095 A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. HPO_CONTRIBUTOR:UToronto_htrang A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. UMLS:C4022648 Abnormal muscle fibre dystrophin expression human_phenotype HP:0030096 Abnormal muscle fiber dystrophin expression HP:0030096 A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. HPO_CONTRIBUTOR:UToronto_htrang PMID:11917091 Abnormal muscle fibre dystrophin expression Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. UMLS:C4022647 human_phenotype HP:0030097 Absent muscle dystrophin expression HP:0030097 Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang PMID:11917091 A decreased amount of dystrophin in muscle fiber tissue. UMLS:C4021053 Reduced dystrophin staining in muscle human_phenotype HP:0030098 Reduced muscle dystrophin expression HP:0030098 A decreased amount of dystrophin in muscle fiber tissue. HPO_CONTRIBUTOR:UToronto_htrang Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. UMLS:C4022646 Reduced muscle fibre alpha dystroglycan human_phenotype HP:0030099 Reduced muscle fiber alpha dystroglycan HP:0030099 Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. HPO_CONTRIBUTOR:UToronto_htrang PMID:11592034 https://orcid.org/0000-0002-0736-9199 Reduced muscle fibre alpha dystroglycan Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022645 Abnormal muscle fibre alpha sarcoglycan human_phenotype HP:0030100 Abnormal muscle fiber alpha sarcoglycan HP:0030100 Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HPO_CONTRIBUTOR:UToronto_htrang PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre alpha sarcoglycan Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. UMLS:C4022644 Absent muscle fibre alpha sarcoglycan human_phenotype HP:0030101 Absent muscle fiber alpha sarcoglycan HP:0030101 Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre alpha sarcoglycan A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. UMLS:C4022643 Reduced muscle fibre alpha sarcoglycan human_phenotype HP:0030102 Reduced muscle fiber alpha sarcoglycan HP:0030102 A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre alpha sarcoglycan Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022642 Abnormal muscle fibre beta sarcoglycan human_phenotype HP:0030103 Abnormal muscle fiber beta sarcoglycan HP:0030103 Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HPO_CONTRIBUTOR:UToronto_htrang PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre beta sarcoglycan Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022641 Abnormal muscle fibre gamma sarcoglycan human_phenotype HP:0030104 Abnormal muscle fiber gamma sarcoglycan HP:0030104 Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HPO_CONTRIBUTOR:UToronto_htrang PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre gamma sarcoglycan Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. UMLS:C4022640 Abnormal muscle fibre delta sarcoglycan human_phenotype HP:0030105 Abnormal muscle fiber delta sarcoglycan HP:0030105 Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines. HPO_CONTRIBUTOR:UToronto_htrang PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre delta sarcoglycan Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. UMLS:C4022639 Absent muscle fibre beta sarcoglycan human_phenotype HP:0030106 Absent muscle fiber beta sarcoglycan HP:0030106 Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre beta sarcoglycan Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. UMLS:C4022638 Reduced muscle fibre beta sarcoglycan human_phenotype HP:0030107 Reduced muscle fiber beta sarcoglycan HP:0030107 Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre beta sarcoglycan Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. UMLS:C4022637 Reduced muscle fibre gamma sarcoglycan human_phenotype HP:0030108 Reduced muscle fiber gamma sarcoglycan HP:0030108 Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre gamma sarcoglycan Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. UMLS:C4022636 Absent muscle fibre gamma sarcoglycan human_phenotype HP:0030109 Absent muscle fiber gamma sarcoglycan HP:0030109 Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre gamma sarcoglycan Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. UMLS:C4022635 Absent muscle fibre delta sarcoglycan human_phenotype HP:0030110 Absent muscle fiber delta sarcoglycan HP:0030110 Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang PMID:26709803 Absent muscle fibre delta sarcoglycan Abnormally reduced amount of delta sarcoglycan in muscle. UMLS:C4022634 Reduced muscle fibre delta sarcoglycan human_phenotype HP:0030111 Reduced muscle fiber delta sarcoglycan HP:0030111 Abnormally reduced amount of delta sarcoglycan in muscle. PMID:26709803 Reduced muscle fibre delta sarcoglycan A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. UMLS:C4022633 Abnormal muscle fibre alpha dystroglycan human_phenotype HP:0030112 Abnormal muscle fiber alpha dystroglycan HP:0030112 Abnormal muscle fibre alpha dystroglycan A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. UMLS:C4022632 Abnormal muscle fibre dysferlin human_phenotype HP:0030113 Abnormal muscle fiber dysferlin HP:0030113 A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing. PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre dysferlin Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. UMLS:C4022631 Absent muscle fibre dysferlin human_phenotype HP:0030114 Absent muscle fiber dysferlin HP:0030114 Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre dysferlin Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. UMLS:C4022630 Reduced muscle fibre dysferlin human_phenotype HP:0030115 Reduced muscle fiber dysferlin HP:0030115 Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre dysferlin A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. UMLS:C4022629 Abnormal muscle fibre emerin human_phenotype HP:0030116 Abnormal muscle fiber emerin HP:0030116 A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue. https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre emerin Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. UMLS:C4022628 Absent muscle fibre emerin human_phenotype HP:0030117 Absent muscle fiber emerin HP:0030117 Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre emerin Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. UMLS:C4022627 Reduced muscle fibre emerin human_phenotype HP:0030118 Reduced muscle fiber emerin HP:0030118 Immunohistochemistry reveals reduced emerin protein in the muscle biopsy. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre emerin A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. UMLS:C4022626 Abnormal muscle fibre calpain-3 human_phenotype HP:0030119 Abnormal muscle fiber calpain-3 HP:0030119 A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates. PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre calpain-3 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. UMLS:C4022625 Absent muscle fibre calpain-3 human_phenotype HP:0030120 Absent muscle fiber calpain-3 HP:0030120 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. HPO_CONTRIBUTOR:UToronto_htrang Absent muscle fibre calpain-3 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. UMLS:C4022624 Reduced muscle fibre calpain-3 human_phenotype HP:0030121 Reduced muscle fiber calpain-3 HP:0030121 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue. HPO_CONTRIBUTOR:UToronto_htrang Reduced muscle fibre calpain-3 Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). UMLS:C4022623 Reduced muscle fibre perlecan human_phenotype HP:0030122 Reduced muscle fiber perlecan HP:0030122 Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2). HPO_CONTRIBUTOR:UToronto_htrang https://orcid.org/0000-0002-0736-9199 Reduced muscle fibre perlecan A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. UMLS:C4022622 Abnormal muscle fibre lamin A/C human_phenotype HP:0030123 Abnormal muscle fiber lamin A/C HP:0030123 A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. PMID:24843229 https://orcid.org/0000-0002-0736-9199 Abnormal muscle fibre lamin A/C A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. UMLS:C4022621 Reduced muscle fibre lamin A/C human_phenotype HP:0030124 Reduced muscle fiber lamin A/C HP:0030124 A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. HPO_CONTRIBUTOR:UToronto_htrang https://orcid.org/0000-0002-0736-9199 Reduced muscle fibre lamin A/C A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. UMLS:C4021052 L5 sacralization human_phenotype HP:0030125 This anomaly is observed at about 3.5 percent of people and is usually bilateral. Sacralization of the fifth lumbar vertebra HP:0030125 A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both. HPO_CONTRIBUTOR:UToronto_bgallinger An anomaly of the inner mucous membrane of the uterus. UMLS:C4022620 Abnormality of the endometrium human_phenotype HP:0030126 Abnormal endometrium morphology HP:0030126 An anomaly of the inner mucous membrane of the uterus. https://orcid.org/0000-0002-0736-9199 The growth of endometrial tissue outside the uterus. HP:0030013 SNOMEDCT_US:129103003 SNOMEDCT_US:396224008 UMLS:C0014175 human_phenotype HP:0030127 The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. Endometriosis HP:0030127 The growth of endometrial tissue outside the uterus. PMID:25221341 https://orcid.org/0000-0002-0736-9199 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. UMLS:C4022619 human_phenotype HP:0030129 Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample. Impaired ristocetin cofactor assay activity HP:0030129 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma. HPO_CONTRIBUTOR:cmiller Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. UMLS:C4022618 human_phenotype HP:0030130 This abnormality may be seen in von Willebrand disease type 1, type 2A, type 2B, and type 3. Impaired von Willebrand factor collagen binding activity HP:0030130 Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers. HPO_CONTRIBUTOR:cmiller PMID:18809794 Deviation from the normal von Willebrand factor multimer pattern. UMLS:C4022617 human_phenotype HP:0030131 Abnormal von Willebrand factor multimer distribution HP:0030131 Deviation from the normal von Willebrand factor multimer pattern. HPO_CONTRIBUTOR:cmiller Absence of large von Willebrand Factor multimers on gel electrophoresis. UMLS:C4022616 human_phenotype HP:0030132 Type 2B von Willebrand disease is characterized by lack of large von Willebrand factor multimers with an otherwise normal von Willebrand factor multimer pattern. Absence of large von Willebrand factor multimers HP:0030132 Absence of large von Willebrand Factor multimers on gel electrophoresis. HPO_CONTRIBUTOR:cmiller Detection of abnormal ultra-large von Willebrand factor multimers. UMLS:C4022615 human_phenotype HP:0030133 The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Abnormal presence of ultra-large von Willebrand factor multimers HP:0030133 Detection of abnormal ultra-large von Willebrand factor multimers. HPO_CONTRIBUTOR:cmiller PMID:11756169 PMID:25983111 Complete absence of all von Willebrand factor multimers. UMLS:C4022614 human_phenotype HP:0030134 Total absence von Willebrand factor multimers HP:0030134 Complete absence of all von Willebrand factor multimers. HPO_CONTRIBUTOR:cmiller Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. UMLS:C4022613 human_phenotype HP:0030135 Type 2A von Willebrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern. Absence of intermediate von Willebrand factor multimers HP:0030135 Lack of intermediate von Willebrand Factor multimers on gel electrophoresis. HPO_CONTRIBUTOR:cmiller Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. UMLS:C4022612 human_phenotype HP:0030136 This abnormality is characteristic of type 2B von Willebrand disease. Enhanced ristocetin cofactor assay activity HP:0030136 Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma. HPO_CONTRIBUTOR:cmiller Bleeding that persists for a longer than usual time following circumcision. UMLS:C4022611 Prolonged bleeding following circumcision human_phenotype HP:0030137 Prolonged bleeding following circumcision HP:0030137 Prolonged bleeding following circumcision An abnormally increased degree of bleeding following a superficial injury to the surface of the skin. UMLS:C4022610 Excessive bleeding from superficial cuts human_phenotype HP:0030138 Excessive bleeding from superficial cuts HP:0030138 An abnormally increased degree of bleeding following a superficial injury to the surface of the skin. HPO_CONTRIBUTOR:cmiller Excessive bleeding from superficial cuts An abnormal high amount of bleeding following the procedure of taking a blood sample. UMLS:C4022609 human_phenotype HP:0030139 Excessive bleeding after a venipuncture HP:0030139 An abnormal high amount of bleeding following the procedure of taking a blood sample. HPO_CONTRIBUTOR:cmiller Recurrent or excessive bleeding from the mouth. UMLS:C4022608 Bleeding from mouth Oral cavity bleeding Oral cavity haemorrhage Oral cavity hemorrhage human_phenotype HP:0030140 Oral cavity bleeding HP:0030140 Recurrent or excessive bleeding from the mouth. HPO_CONTRIBUTOR:cmiller Bleeding from mouth https://orcid.org/0000-0001-5889-4463 Oral cavity bleeding Oral cavity haemorrhage Oral cavity hemorrhage https://orcid.org/0000-0001-5889-4463 An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. UMLS:C4022607 Abnormality of hairline at back of head human_phenotype HP:0030141 Abnormality of the posterior hairline HP:0030141 An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair. https://orcid.org/0000-0002-0736-9199 Abnormality of hairline at back of head https://orcid.org/0000-0001-5889-4463 An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. SNOMEDCT_US:60612008 UMLS:C0159060 Abnormal bowel sounds human_phenotype HP:0030142 Abnormal bowel sounds HP:0030142 Abnormal bowel sounds Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. SNOMEDCT_US:18101008 UMLS:C0232694 Borborygmi Increased bowel sounds human_phenotype HP:0030143 Hyperactive bowel sounds HP:0030143 Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. PMID:22767621 https://orcid.org/0000-0002-0736-9199 Increased bowel sounds https://orcid.org/0000-0001-5208-3432 An decreased amount of bowel sounds. SNOMEDCT_US:15280003 UMLS:C0232695 Decreased bowel sounds human_phenotype HP:0030144 Hypoactive bowel sounds HP:0030144 An decreased amount of bowel sounds. https://orcid.org/0000-0002-0736-9199 Decreased bowel sounds https://orcid.org/0000-0001-5208-3432 Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. UMLS:C4022606 Lack of bowel sounds human_phenotype HP:0030145 This feature reflects lack of intestinal activity. Lack of bowel sounds HP:0030145 Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. https://orcid.org/0000-0002-0736-9199 Lack of bowel sounds A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. UMLS:C4022605 human_phenotype HP:0030146 Abnormal liver parenchyma morphology HP:0030146 A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. PMID:11157536 https://orcid.org/0000-0002-0736-9199 Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. UMLS:C2674512 human_phenotype HP:0030147 Truncal titubation HP:0030147 Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. https://orcid.org/0000-0002-0736-9199 An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. SNOMEDCT_US:414786004 SNOMEDCT_US:421493004 SNOMEDCT_US:88610006 UMLS:C0018808 Cardiac murmur Cardiac murmurs Heart murmur Heart murmurs human_phenotype HP:0030148 Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). Heart murmur HP:0030148 An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. https://orcid.org/0000-0002-0736-9199 Heart murmur Heart murmurs Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. SNOMEDCT_US:89138009 UMLS:C0036980 Cardiovascular shock human_phenotype HP:0030149 Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction. Cardiogenic shock HP:0030149 Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. PMID:24188221 An abnormally increased number of plasma cells in tissues, exudates, or blood UMLS:C0549295 human_phenotype HP:0030150 A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte. Plasmacytosis HP:0030150 Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. SNOMEDCT_US:82403002 UMLS:C0008311 Bile duct inflammation human_phenotype HP:0030151 Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis. Cholangitis HP:0030151 Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. PMID:21994886 https://orcid.org/0000-0002-0736-9199 Bile duct inflammation HP:0100574 human_phenotype HP:0030152 obsolete Biliary tract neoplasm true HP:0030152 Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. NCIT:C3262 SNOMEDCT_US:312104005 SNOMEDCT_US:70179006 UMLS:C0206698 Bile duct cancer human_phenotype HP:0030153 Cholangiocarcinoma HP:0030153 Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. PMID:18536057 PMID:8268770 https://orcid.org/0000-0002-0736-9199 Bile duct cancer https://orcid.org/0000-0001-6908-9849 Rupture of the wall of the gallbladder. SNOMEDCT_US:25345001 UMLS:C0156215 Gall bladder perforation human_phenotype HP:0030154 Clinical presentation of a ruptured gallbladder can range from an acute generalized peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. Gallbladder perforation HP:0030154 Rupture of the wall of the gallbladder. PMID:22210542 https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum. SNOMEDCT_US:20502007 UMLS:C0236078 Scrotal pain human_phenotype HP:0030155 Scrotal pain HP:0030155 Scrotal pain The presence of free monoclonal immunoglobulin light chains in the urine. SNOMEDCT_US:274771005 UMLS:C0004968 human_phenotype HP:0030156 Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. Bence Jones Proteinuria HP:0030156 The presence of free monoclonal immunoglobulin light chains in the urine. PMID:7876381 https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. Kidney pain SNOMEDCT_US:247355005 UMLS:C0016199 Flank pain human_phenotype HP:0030157 The flank is the area on the side of the abdomen between the ribs and the hip. Flank pain HP:0030157 Kidney pain Flank pain Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu SNOMEDCT_US:61253004 SNOMEDCT_US:79342006 UMLS:C0007869 UMLS:C0269189 Cervical ectopy human_phenotype Cervical erosion HP:0030158 The upper cervix (endocervix) is lined by a simple columnar epithelium that contains mucous-secreting cells. In contrast, the lower cervix (ectocervix) is lined by a stratified squamous epithelium. The transition point between these two epithelia is known as the external os. Cervical ectropion is the presence of columnar cells on the ectocervix, which is normally composed of a squamous epithelium. Potential causes of ectropion include adolescent age, pregnancy, and hormonal contraceptives.5 Some clinicians believe ectropion could be a normal asymptomatic variant, whereas others believe it to be correlated with chronic cervicitis.5 The presence of the metaplastic columnar epithelium can manifest a myriad of symptoms including increased vaginal discharge, leukorrhea, postcoital bleeding, pelvic pain, recurrent cervicitis, and dyspareunia. Cervical ectropion HP:0030158 Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu PMID:21270291 PMID:28460993 https://orcid.org/0000-0002-0736-9199 Abnormal growth of tissue projecting from a mucous membrane of the endocervix. SNOMEDCT_US:123841004 SNOMEDCT_US:65576009 UMLS:C0007855 UMLS:C0007873 Cervical tumor Cervical tumour human_phenotype HP:0030159 Cervical polyp HP:0030159 Abnormal growth of tissue projecting from a mucous membrane of the endocervix. PMID:21270291 https://orcid.org/0000-0002-0736-9199 Cervical tumor https://orcid.org/0000-0001-6908-9849 Cervical tumour Inflammation of the uterine cervix. SNOMEDCT_US:37610005 UMLS:C0007860 Uterine cervicitis Uterine cervix inflammation human_phenotype HP:0030160 Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. Cervicitis HP:0030160 Inflammation of the uterine cervix. PMID:21270291 https://orcid.org/0000-0002-0736-9199 Uterine cervix inflammation https://orcid.org/0000-0001-5208-3432 A sensation of itching in the vagina. SNOMEDCT_US:34363003 UMLS:C0042256 human_phenotype HP:0030161 Vaginal pruritus HP:0030161 Abnormally large size of glomeruli. UMLS:C4022604 Glomeruli enlarged human_phenotype HP:0030162 Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. Glomerulomegaly HP:0030162 Abnormally large size of glomeruli. PMID:21115671 PMID:9402101 https://orcid.org/0000-0002-0736-9199 Abnormality of vascular function. UMLS:C4022603 human_phenotype HP:0030163 Abnormal vascular physiology HP:0030163 Abnormality of vascular function. https://orcid.org/0000-0002-0736-9199 Pain in the jaw or ear induced by chewing or otherwise moving the jaw. SNOMEDCT_US:43922008 UMLS:C0239064 Jaw pain while chewing human_phenotype HP:0030164 Jaw claudication HP:0030164 Pain in the jaw or ear induced by chewing or otherwise moving the jaw. PMID:12972467 https://orcid.org/0000-0002-0736-9199 Jaw pain while chewing https://orcid.org/0000-0001-6908-9849 The presence of an increased number of twists and turns of the temporal artery. UMLS:C4022602 human_phenotype HP:0030165 Temporal artery tortuosity HP:0030165 The presence of an increased number of twists and turns of the temporal artery. https://orcid.org/0000-0002-0736-9199 Occurrence of excessive sweating during sleep. SNOMEDCT_US:42984000 UMLS:C0028081 Night sweats Nocturnal hyperhidrosis human_phenotype HP:0030166 Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. Night sweats HP:0030166 Occurrence of excessive sweating during sleep. PMID:23136329 https://orcid.org/0000-0002-0736-9199 Night sweats The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. UMLS:C4021051 Serum antimitochrondrial antibodies human_phenotype HP:0030167 Antimitochondrial antibody positivity HP:0030167 The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. https://orcid.org/0000-0002-0736-9199 Increase in diameter of the veins located underneath the skin of the abdomen. UMLS:C4021050 Dilatation of the superficial abdominal veins human_phenotype HP:0030168 There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery. Dilated superficial abdominal veins HP:0030168 Increase in diameter of the veins located underneath the skin of the abdomen. PMID:5897968 Extreme dilation of the submucusoal veins in the stomach. SNOMEDCT_US:91109007 UMLS:C0017145 human_phenotype Gastric varices HP:0030169 Gastric varix HP:0030169 Extreme dilation of the submucusoal veins in the stomach. PMID:24891929 https://orcid.org/0000-0002-0736-9199 Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. UMLS:C4022601 human_phenotype HP:0030170 Cystic artery pseudoaneurysm HP:0030170 Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue. PMID:24394852 https://orcid.org/0000-0002-0736-9199 A collection of clotted blood surrounding the kidney. SNOMEDCT_US:197824007 UMLS:C0473124 human_phenotype HP:0030171 The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. Perirenal hematoma HP:0030171 A collection of clotted blood surrounding the kidney. PMID:17963347 PMID:3360039 https://orcid.org/0000-0002-0736-9199 Congenital absence of the myelin sheath on a nerve. UMLS:C4022600 human_phenotype HP:0030172 Peripheral amyelination HP:0030172 Congenital absence of the myelin sheath on a nerve. HPO_CONTRIBUTOR:jbeats PMID:22246888 Increased amount of peripheral myelination. UMLS:C4021049 Increased peripheral myelination human_phenotype HP:0030173 Peripheral hypermyelination HP:0030173 Increased amount of peripheral myelination. https://orcid.org/0000-0002-0736-9199 Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. UMLS:C4022599 human_phenotype HP:0030174 Increased peripheral myelin thickness HP:0030174 Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion. HPO_CONTRIBUTOR:jbeats The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). UMLS:C4020904 Tomacula human_phenotype HP:0030175 Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination. Myelin tomacula HP:0030175 The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage). HPO_CONTRIBUTOR:jbeats PMID:10727485 Loss of myelin from peripheral nerves in a pattern that differs between right and left. UMLS:C4022598 human_phenotype HP:0030176 This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. Asymmetric peripheral demyelination HP:0030176 Loss of myelin from peripheral nerves in a pattern that differs between right and left. HPO_CONTRIBUTOR:jbaets An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles. UMLS:C0853150 Abnormal nerve conduction study human_phenotype HP:0030177 Abnormality of peripheral nervous system electrophysiology HP:0030177 UMLS:C4022597 Abnormality of CNS electrophysiology human_phenotype HP:0030178 Abnormality of central nervous system electrophysiology HP:0030178 Abnormality of CNS electrophysiology An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. UMLS:C4022596 human_phenotype HP:0030179 Abnormal peripheral action potential amplitude HP:0030179 Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). SNOMEDCT_US:414949005 UMLS:C1532837 Oppenheim sign human_phenotype HP:0030180 This reflex can indicate affection of the corticospinal (pyramidal) tracts. Oppenheim reflex HP:0030180 Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe). HPO_CONTRIBUTOR:UKB_tklockgether Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). UMLS:C4021048 Gordon sign human_phenotype HP:0030181 Gordon's reflex indicates a lesion of the pyramidal tract. Gordon reflex HP:0030181 Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe). HPO_CONTRIBUTOR:UKT_rschuele PMID:18637037 Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. UMLS:C4022595 human_phenotype HP:0030182 Tetraplegia/tetraparesis HP:0030182 The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). UMLS:C4021047 VVOR impairment Visually enhanced vestibulo-ocular reflex impairment human_phenotype HP:0030183 Impaired visually enhanced vestibulo-ocular reflex HP:0030183 The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). PMID:16954982 https://orcid.org/0000-0002-0736-9199 An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). UMLS:C4022594 UMLS:C4280303 human_phenotype Dystonia tremor HP:0030185 Isometric tremor HP:0030185 An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). PMID:21404980 https://orcid.org/0000-0002-0736-9199 Dystonia tremor https://orcid.org/0000-0001-6908-9849 Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. SNOMEDCT_US:30721006 SNOMEDCT_US:609558009 UMLS:C0234376 UMLS:C0270736 Essential tremor human_phenotype HP:0030186 Kinetic tremor HP:0030186 Essential tremor https://orcid.org/0000-0001-6908-9849 Nodding movement of the head or body. SNOMEDCT_US:78691002 UMLS:C0231690 human_phenotype HP:0030187 Titubation HP:0030187 Nodding movement of the head or body. PMID:4821687 https://orcid.org/0000-0002-0736-9199 Tremor classified by the affected body part. UMLS:C4022593 Tremor of a body part human_phenotype HP:0030188 Tremor by anatomical site HP:0030188 Tremor classified by the affected body part. https://orcid.org/0000-0002-0736-9199 Tremor of a body part https://orcid.org/0000-0001-6908-9849 Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. UMLS:C4022592 human_phenotype HP:0030190 Oral motor hypotonia HP:0030190 An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. UMLS:C4021046 Abnormal PNS synaptic transmission human_phenotype HP:0030191 Abnormal peripheral nervous system synaptic transmission HP:0030191 A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022591 human_phenotype HP:0030192 Fatigable weakness of bulbar muscles HP:0030192 A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UNCL_mbertoli PMID:17986328 https://orcid.org/0000-0002-0736-9199 A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022590 human_phenotype HP:0030193 Fatigable weakness of chewing muscles HP:0030193 A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UNCL_tevangelista PMID:17986328 A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022589 human_phenotype HP:0030194 Fatigable weakness of speech muscles HP:0030194 A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. PMID:17986328 https://orcid.org/0000-0003-2324-8001 A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022588 human_phenotype HP:0030195 Fatigable weakness of swallowing muscles HP:0030195 A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UK_rheller PMID:17986328 A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022587 human_phenotype HP:0030196 Fatigable weakness of respiratory muscles HP:0030196 A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UNCL_mbertoli A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022586 human_phenotype HP:0030197 Fatigable weakness of skeletal muscles HP:0030197 A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022585 human_phenotype HP:0030198 Fatigable weakness of distal limb muscles HP:0030198 A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UK_rheller A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022584 human_phenotype HP:0030199 Fatigable weakness of neck muscles HP:0030199 A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UK_rheller A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. UMLS:C4022583 human_phenotype HP:0030200 Fatiguable weakness of proximal limb muscles HP:0030200 A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. HPO_CONTRIBUTOR:UK_rheller Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. UMLS:C4022582 human_phenotype HP:0030201 Response to drugs acting on neuromuscular transmission HP:0030201 Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis. HPO_CONTRIBUTOR:UK_rheller Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. UMLS:C4022581 Favourable response of weakness to acetylcholine esterase inhibitors human_phenotype HP:0030202 An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. Favorable response of weakness to acetylcholine esterase inhibitors HP:0030202 Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. HPO_CONTRIBUTOR:UK_rheller Favourable response of weakness to acetylcholine esterase inhibitors Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. UMLS:C4022580 Unfavourable response of muscle weakness to acetylcholine esterase inhibitors human_phenotype HP:0030203 An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. Unfavorable response of muscle weakness to acetylcholine esterase inhibitors HP:0030203 Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. HPO_CONTRIBUTOR:UK_rheller Unfavourable response of muscle weakness to acetylcholine esterase inhibitors The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). UMLS:C4021045 Increased jitter at single fibre EMG Increased jitter at single fibre electromyography human_phenotype HP:0030205 Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission. Increased jitter at single fiber EMG HP:0030205 The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). HPO_CONTRIBUTOR:UK_rheller PMID:21654930 Increased jitter at single fibre EMG Increased jitter at single fibre electromyography A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. UMLS:C4022579 human_phenotype HP:0030206 This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. EMG: incremental response of compound muscle action potential to repetitive nerve stimulation HP:0030206 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation. HPO_CONTRIBUTOR:UK_rheller PMID:23970984 Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. Paradoxical breathing human_phenotype HP:0030207 Paradoxical respiration HP:0030207 Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing. HPO_CONTRIBUTOR:tevangelista The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors. UMLS:C4022578 Acetylcholine receptor antibody positivity Anti-AChR antibody positivity human_phenotype HP:0030208 The neuromuscular junction (NMJ) is a synaptic connection between the terminal end of a motor nerve and a muscle. Acetylcholine (ACh) is synthesized in the pre-synaptic terminal using choline and acetyl-CoA and the enzyme choline acetyltransferase. The released ACh subsequently binds to nicotinic ACh receptors on the junctional folds of the motor endplate. The binding of ACh to receptors triggers the opening of ACh gated ion channels that allow the influx of sodium ions into the muscle. Myasthenia Gravis is an auto-immune condition (type II hypersensitivity reaction), resulting in the production of auto-antibodies against ACh receptors, at the neuromuscular junction. Anti-neuromuscular Junction acetylcholine receptor antibody positivity HP:0030208 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors. HPO_CONTRIBUTOR:UK_rheller Anti-AChR antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. UMLS:C4022577 Ca channel antibody positivity Ca2+ channel antibody positivity human_phenotype HP:0030209 This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. Calcium channel antibody positivity HP:0030209 The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels. HPO_CONTRIBUTOR:UNCL_mbertoli PMID:7739683 Ca channel antibody positivity Ca2+ channel antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). HP:5000045 UMLS:C4021044 Anti-MUSK antibodies Anti-muscle-specific tyrosine kinase antibody Muscle specific kinase antibody positivity human_phenotype HP:0030210 Anti-muscle-specific tyrosine kinase antibody HP:0030210 The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab). PMID:22770539 PMID:29321424 PMID:32830177 https://orcid.org/0000-0003-2324-8001 Reduced velocity and acceleration in the pupillary light response. UMLS:C4022576 Sluggish pupillary reaction Sluggish pupillary reactions to light human_phenotype HP:0030211 Slow pupillary light response HP:0030211 Reduced velocity and acceleration in the pupillary light response. HPO_CONTRIBUTOR:UNCL_tevangelista PMID:974056 Excessive or pathological tendency to save and collect possessions. SNOMEDCT_US:247968005 UMLS:C0424290 Collecting Compulsive hoarding Hoarding human_phenotype HP:0030212 Collectionism HP:0030212 Collecting https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Compulsive hoarding https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hoarding https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A diminished ability to experience, express, or connect with emotions across both positive and negative valences. This state is often characterized by a pervasive sense of emotional disconnection or detachment, where the individual may report feeling "numb" or lacking emotional responses that were previously present. The reduction can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is important to consider the individual's baseline emotional competence, as changes in emotional capacity may be more indicative of this phenomenon in those with a previously broad emotional range. Blunted affect Diminished emotional response Emotional poverty Flat Affect Restricted Affect Unable to feel emotion SNOMEDCT_US:6140007 UMLS:C0233469 Emotional blunting Emotional numbness Emotionally barren human_phenotype Emotional Detachment Restricted affect HP:0030213 It is recognized that the term "emotional dearth" is not commonly (if ever) used in clinical practice. One of the features of melancholia, described in early 20th century literature, is the inability of patients to feel emotions or finding themselves unable to generate an affective response. This experience is distinct from sadness or elevations in mood. Emotional dearth HP:0030213 A diminished ability to experience, express, or connect with emotions across both positive and negative valences. This state is often characterized by a pervasive sense of emotional disconnection or detachment, where the individual may report feeling "numb" or lacking emotional responses that were previously present. The reduction can range from mild dampening of emotional responses to a near-total absence of emotional engagement. It is important to consider the individual's baseline emotional competence, as changes in emotional capacity may be more indicative of this phenomenon in those with a previously broad emotional range. PMID:34008477 Emotional poverty Unable to feel emotion Emotionally barren HP:5200321 human_phenotype HP:0030214 obsolete Hypersexuality true HP:0030214 Uncontrolled episodes of crying occur without any apparent motivating stimuli. UMLS:C0860609 Cry frequently for no reason Cry frequently without apparent cause Cry frequently without cause Cry frequently without reason Frequently cries for no reason Frequently cries without apparent cause Frequently cries without cause Frequently cries without reason Inappropriate crying human_phenotype HP:0030215 Inappropriate crying HP:0030215 Inappropriate crying Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). UMLS:C4022575 human_phenotype HP:0030216 Inertia HP:0030216 Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). HPO_CONTRIBUTOR:ICM_PCaroppo Difficulty in performing the correct execution of limbs movements in absence of motor impairment. UMLS:C4022574 human_phenotype HP:0030217 Limb apraxia HP:0030217 Difficulty in performing the correct execution of limbs movements in absence of motor impairment. HPO_CONTRIBUTOR:ICM_PCaroppo Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. UMLS:C1963933 human_phenotype HP:0030218 Punding HP:0030218 Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. HPO_CONTRIBUTOR:ICM_PCaroppo PMID:15077237 PMID:25452726 A progressive loss of the ability to remember the meaning of words, faces and objects. SNOMEDCT_US:230288001 UMLS:C0338462 human_phenotype Trouble remembering words HP:0030219 Semantic dementia HP:0030219 A progressive loss of the ability to remember the meaning of words, faces and objects. HPO_CONTRIBUTOR:ICM_PCaroppo PMID:24966676 Trouble remembering words HP:0000719 human_phenotype HP:0030220 obsolete Socially inappropriate behavior true HP:0030220 Excessive desire to eat sweet foods. UMLS:C0241314 Sweet craving human_phenotype HP:0030221 Sweet craving HP:0030221 Sweet craving The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory. SNOMEDCT_US:25762009 UMLS:C0234502 human_phenotype HP:0030222 Visual agnosia HP:0030222 The repetitive production of the same response to different commands. SNOMEDCT_US:44515000 UMLS:C0233651 Perseveration Perseverative behavior Perseverative behaviour human_phenotype HP:0030223 A description of an individual who displayed perseveration following a hemispheric stroke is the following. The individual displayed the three primary forms of perseveration (stuck-in-set, continuous, and recurrent; for definitions), and these forms occurred on various tasks and modalities. He often pointed to the same (incorrect) items on an auditory comprehension test, whereas on writing tasks he repeated letters and words. In drawing, elements of one drawing would be carried over to other drawings. Mental states which are slow to change are perseverative, while those which are demanding or intrusive could be described as stereotyped. Perseverative thought HP:0030223 Perseveration https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Perseverative behavior https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Perseverative behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein. UMLS:C4022573 Abnormal muscle fibre desmin human_phenotype HP:0030224 Abnormal muscle fiber desmin HP:0030224 A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein. https://orcid.org/0000-0001-9046-3540 Abnormal muscle fibre desmin Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. UMLS:C4021043 Accumulation of muscle fibre desmin Muscle fiber desmin-reactive inclusion bodies Muscle fibre desmin-reactive inclusion bodies human_phenotype HP:0030225 Accumulation of muscle fiber desmin HP:0030225 Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. https://orcid.org/0000-0001-9046-3540 Accumulation of muscle fibre desmin Muscle fibre desmin-reactive inclusion bodies A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein. UMLS:C4022572 Abnormal muscle fibre myotilin human_phenotype HP:0030226 Abnormal muscle fiber myotilin HP:0030226 A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein. https://orcid.org/0000-0001-9046-3540 Abnormal muscle fibre myotilin Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. UMLS:C4022571 Accumulation of muscle fibre myotilin human_phenotype HP:0030227 Accumulation of muscle fiber myotilin HP:0030227 Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy. https://orcid.org/0000-0001-9046-3540 Accumulation of muscle fibre myotilin A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. UMLS:C4022570 Abnormal muscle fibre valosin-containing protein human_phenotype HP:0030228 Abnormal muscle fiber valosin-containing protein HP:0030228 A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family. https://orcid.org/0000-0001-9046-3540 Abnormal muscle fibre valosin-containing protein Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. UMLS:C4022569 Accumulation of muscle fibre valosin-containing protein human_phenotype HP:0030229 Accumulation of muscle fiber valosin-containing protein HP:0030229 Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy. https://orcid.org/0000-0001-9046-3540 Accumulation of muscle fibre valosin-containing protein The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. UMLS:C4022568 Central core regions in muscle fibres human_phenotype HP:0030230 Central core regions in muscle fibers HP:0030230 The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. PMID:17504518 https://orcid.org/0000-0001-9046-3540 Central core regions in muscle fibres An increased amount of glycogen in muscle tissue found specifically in lysosomes. UMLS:C4022567 Glycogen accumulation in muscle fibre lysosomes human_phenotype HP:0030231 Glycogen accumulation in muscle fiber lysosomes HP:0030231 An increased amount of glycogen in muscle tissue found specifically in lysosomes. https://orcid.org/0000-0001-9046-3540 Glycogen accumulation in muscle fibre lysosomes Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. UMLS:C4022566 human_phenotype HP:0030232 Increased sarcoplasmic glycogen HP:0030232 Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. https://orcid.org/0000-0002-0736-9199 Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. UMLS:C4021042 Bethlem phenomenon human_phenotype HP:0030233 Bethlem sign HP:0030233 Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures. https://orcid.org/0000-0001-9046-3540 An increased CPK level between 4X and 50X above the upper normal level. UMLS:C4022565 Highly elevated CPK Highly elevated creatine phosphokinase Highly elevated serum CK Highly elevated serum CPK Highly elevated serum phosph-CK human_phenotype HP:0030234 Highly elevated creatine kinase HP:0030234 An increased CPK level between 4X and 50X above the upper normal level. https://orcid.org/0000-0001-9046-3540 Highly elevated CPK Highly elevated creatine phosphokinase https://orcid.org/0000-0001-7941-2961 Highly elevated serum CK https://orcid.org/0000-0001-7941-2961 Highly elevated serum CPK https://orcid.org/0000-0001-7941-2961 Highly elevated serum phosph-CK https://orcid.org/0000-0001-7941-2961 An increased creatine kinase level more than 50X above the upper normal level. UMLS:C4022564 Extremely elevated CPK Extremely elevated creatine phosphokinase Extremely elevated phospho-CK serum level Extremely elevated serum CK level Extremely high CPK level human_phenotype HP:0030235 Extremely elevated creatine kinase HP:0030235 An increased creatine kinase level more than 50X above the upper normal level. https://orcid.org/0000-0001-7941-2961 https://orcid.org/0000-0001-9046-3540 Extremely elevated CPK Extremely elevated creatine phosphokinase https://orcid.org/0000-0001-7941-2961 Extremely elevated phospho-CK serum level https://orcid.org/0000-0001-7941-2961 Extremely elevated serum CK level https://orcid.org/0000-0001-7941-2961 Extremely high CPK level https://orcid.org/0000-0001-7941-2961 Abnormalities of the overall muscle bulk based on clinical observation. UMLS:C4022563 Abnormality of muscle size human_phenotype HP:0030236 Abnormality of muscle size HP:0030236 Abnormalities of the overall muscle bulk based on clinical observation. https://orcid.org/0000-0001-9046-3540 Abnormality of muscle size Reduced strength of the musculature of the hand. SNOMEDCT_US:298283006 UMLS:C0239831 Hand muscle weakness human_phenotype HP:0030237 Hand muscle weakness HP:0030237 Reduced strength of the musculature of the hand. https://orcid.org/0000-0002-0736-9199 Hand muscle weakness Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. UMLS:C4022562 Underdeveloped upper arm muscles human_phenotype HP:0030239 Hypoplasia of the upper arm musculature HP:0030239 Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis. https://orcid.org/0000-0002-0736-9199 Underdeveloped upper arm muscles https://orcid.org/0000-0001-5208-3432 Underdevelopment of the deltoid muscle. HP:0009039 HP:0009044 UMLS:C1868170 Deltoid muscle hypoplasia human_phenotype HP:0030241 Hypoplasia of deltoid muscle HP:0030241 Underdevelopment of the deltoid muscle. https://orcid.org/0000-0001-9046-3540 Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. SNOMEDCT_US:17920008 UMLS:C0155773 Blood clot in portal vein human_phenotype HP:0030242 Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. Portal vein thrombosis HP:0030242 Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. PMID:21960890 https://orcid.org/0000-0002-0736-9199 Blood clot in portal vein https://orcid.org/0000-0001-6908-9849 An obstruction in the veins of the liver caused by a blood clot (thrombosis). SNOMEDCT_US:38739001 UMLS:C0019154 Blood clot in liver vein Hepatic venous thrombosis human_phenotype HP:0030243 Hepatic vein thrombosis HP:0030243 An obstruction in the veins of the liver caused by a blood clot (thrombosis). https://orcid.org/0000-0002-0736-9199 Blood clot in liver vein https://orcid.org/0000-0001-5208-3432 The occurrence of an elevated body temperature of the mother during pregnancy. UMLS:C4021041 Maternal fever during pregnancy human_phenotype HP:0030244 There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester. Maternal fever in pregnancy HP:0030244 The occurrence of an elevated body temperature of the mother during pregnancy. PMID:24567014 https://orcid.org/0000-0002-0736-9199 The occurrence of maternal fever during labor. UMLS:C3829514 Maternal fever during labor Maternal fever during labour human_phenotype HP:0030245 Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality. Intrapartum fever HP:0030245 The occurrence of maternal fever during labor. PMID:11430951 PMID:8135133 https://orcid.org/0000-0002-0736-9199 Maternal fever during labor https://orcid.org/0000-0001-5208-3432 Maternal fever during labour The occurrence of fever in a mother during the first trimester of pregnancy. UMLS:C4022561 human_phenotype HP:0030246 Maternal first trimester fever HP:0030246 The occurrence of fever in a mother during the first trimester of pregnancy. PMID:24917213 https://orcid.org/0000-0002-0736-9199 The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). UMLS:C4022560 Blood clot in splanchnic vein human_phenotype HP:0030247 Splanchnic vein thrombosis HP:0030247 The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). PMID:20532730 https://orcid.org/0000-0002-0736-9199 Blood clot in splanchnic vein https://orcid.org/0000-0001-6908-9849 A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). SNOMEDCT_US:95446005 UMLS:C0267412 Blood clot in mesentertic vein human_phenotype HP:0030248 Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting. Mesenteric venous thrombosis HP:0030248 Blood clot in mesentertic vein https://orcid.org/0000-0001-6908-9849 A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. SNOMEDCT_US:5862001 UMLS:C0014034 human_phenotype HP:0030249 Enanthema HP:0030249 A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx. https://orcid.org/0000-0002-0736-9199 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung. UMLS:C0856628 human_phenotype HP:0030250 Pulmonary granulomatosis HP:0030250 HP:0010976 human_phenotype HP:0030251 obsolete Absence of memory B cells true HP:0030251 Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. UMLS:C4022558 Absence of mature B cells human_phenotype HP:0030252 Absent circulating B cells HP:0030252 Absence of detectable circulating B cells, commonly characterized as CD19+ or CD20+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. PMID:32569607 https://orcid.org/0000-0002-0736-9199 HP:0031379 human_phenotype HP:0030253 obsolete Defective T cell proliferation true HP:0030253 Small areas of bleeding (hemorrhage) under the fingernail or toenail. UMLS:C0877087 Nail bed haemorrhage human_phenotype HP:0030254 Nail bed hemorrhage HP:0030254 Small areas of bleeding (hemorrhage) under the fingernail or toenail. https://orcid.org/0000-0002-0736-9199 Nail bed haemorrhage The presence of multiple polyps in the large intestine. UMLS:C4022556 human_phenotype HP:0030255 Large intestinal polyposis HP:0030255 The presence of multiple polyps in the large intestine. https://orcid.org/0000-0002-0736-9199 The presence of multiple polyps in the small intestine. UMLS:C4022555 human_phenotype HP:0030256 Small intestinal polyposis HP:0030256 The presence of multiple polyps in the small intestine. https://orcid.org/0000-0002-0736-9199 One or more brown punctate macules on the skin of the genitalia. UMLS:C4021040 Freckled genitalia Genitalia, ephelides human_phenotype HP:0030257 This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s). Freckled genitalia HP:0030257 One or more brown punctate macules on the skin of the genitalia. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Freckled genitalia Localized or generalized increased genital pigmentation. UMLS:C4020713 UMLS:C4022554 Increased genital pigmentation human_phenotype Penile melanosis HP:0030258 This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). Hyperpigmented genitalia HP:0030258 Increased genital pigmentation https://orcid.org/0000-0001-5208-3432 Localized or generalized decreased genital pigmentation. UMLS:C4022553 Decreased genital pigmentation human_phenotype HP:0030259 This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. Hypopigmented genitalia HP:0030259 Localized or generalized decreased genital pigmentation. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Decreased genital pigmentation https://orcid.org/0000-0001-5208-3432 Length of penis more than 2 SD below the mean for age accompanied by hypospadias. SNOMEDCT_US:276333003 UMLS:C0240701 human_phenotype HP:0030260 Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. Microphallus HP:0030260 Length of penis more than 2 SD below the mean for age accompanied by hypospadias. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Lack of recognizable penile structures. HP:0040316 SNOMEDCT_US:204908001 SNOMEDCT_US:59981001 UMLS:C0555231 Absent penis Aphallia Aplasia of the penis Penis aplasia human_phenotype HP:0030261 Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue. Absent penis HP:0030261 Lack of recognizable penile structures. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Absent penis Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. UMLS:C4022552 Narrow penis human_phenotype HP:0030262 Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis. Narrow penis HP:0030262 Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Narrow penis Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. UMLS:C1407019 human_phenotype HP:0030263 Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately. Torsion of the penis HP:0030263 Rotated position of the glans, with or without the penile shaft, of 30 degrees or more. PMID:23650202 https://orcid.org/0000-0002-0736-9199 Ventral skinfold extending from penis to scrotum. SNOMEDCT_US:253852007 UMLS:C0431670 Webbed penis human_phenotype HP:0030264 The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. Webbed penis HP:0030264 Ventral skinfold extending from penis to scrotum. PMID:23650202 Webbed penis Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. UMLS:C4022551 Wide penis human_phenotype HP:0030265 Wide penis HP:0030265 Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. PMID:23650202 Wide penis HP:0010456 human_phenotype HP:0030266 obsolete Abnormality of the sacroiliac notch true HP:0030266 Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. UMLS:C4022549 Interosseous membrane calcification of forearm human_phenotype HP:0030267 Calcification of the interosseus membrane of the forearm HP:0030267 Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna. https://orcid.org/0000-0002-0736-9199 Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. UMLS:C4022548 human_phenotype HP:0030268 Hyperplastic callus formation HP:0030268 Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. PMID:12913845 PMID:17451374 https://orcid.org/0000-0002-0736-9199 The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is above the upper limit of normal. UMLS:C2676198 Elevated serum IGF1 Increased serum IGF1 Increased serum insulin-like growth factor 1 human_phenotype HP:0030269 Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. Increased circulating insulin-like growth factor 1 concentration HP:0030269 The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is above the upper limit of normal. PMID:18436706 https://orcid.org/0000-0002-0736-9199 Elevated serum IGF1 Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. UMLS:C4022547 human_phenotype HP:0030270 Elevated red cell adenosine deaminase activity HP:0030270 Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. PMID:3348976 https://orcid.org/0000-0002-0736-9199 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. UMLS:C4022546 human_phenotype HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. https://orcid.org/0000-0002-0736-9199 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. UMLS:C4022545 Abnormal erythrocyte enzyme level human_phenotype HP:0030272 Abnormal erythrocyte enzyme concentration or activity HP:0030272 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. UMLS:C4022544 human_phenotype HP:0030273 Reduced red cell adenosine deaminase level HP:0030273 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. https://orcid.org/0000-0002-0736-9199 Additional scrotum, or part of a scrotum in an abnormal location. UMLS:C4022543 Extra scrotum human_phenotype HP:0030274 An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. Accessory scrotum HP:0030274 Additional scrotum, or part of a scrotum in an abnormal location. PMID:23650202 Extra scrotum https://orcid.org/0000-0001-5208-3432 Scrotum in a position other than the usual position inferior to the base of the penis. UMLS:C4022542 Abnormal scrotum position human_phenotype HP:0030275 This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. Ectopic scrotum HP:0030275 Scrotum in a position other than the usual position inferior to the base of the penis. PMID:23650202 Abnormal scrotum position https://orcid.org/0000-0001-5208-3432 HP:0000046 human_phenotype HP:0030276 obsolete Small scrotum true HP:0030276 Abnormal morphology of a vertebral pedical. UMLS:C4022541 human_phenotype HP:0030277 The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen. Abnormal vertebral pedicle morphology HP:0030277 Abnormal morphology of a vertebral pedical. HPO_CONTRIBUTOR:UToronto_bgallinger Underdeveloped vertebral pedicle. UMLS:C4022540 human_phenotype HP:0030278 Hypoplastic vertebral pedicle HP:0030278 Underdeveloped vertebral pedicle. https://orcid.org/0000-0002-0736-9199 Underdeveloped pedicle of the fifth lumbar vertebra. UMLS:C4022539 human_phenotype HP:0030279 Hypoplastic L5 vertebral pedicle HP:0030279 Underdeveloped pedicle of the fifth lumbar vertebra. HPO_CONTRIBUTOR:UToronto_bgallinger Radiolucent focal defect of a rib shaft. SNOMEDCT_US:249705009 UMLS:C0426827 Rib gap human_phenotype HP:0030280 A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections. Rib gap HP:0030280 Radiolucent focal defect of a rib shaft. https://orcid.org/0000-0002-0736-9199 Rib gap Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. UMLS:C4022538 human_phenotype HP:0030281 Cervical C3/C4 vertebral fusion HP:0030281 Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. UMLS:C1842696 Dorsal rib defect human_phenotype HP:0030282 Posterior rib gap HP:0030282 Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. HPO_CONTRIBUTOR:UToronto_bgallinger Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. SNOMEDCT_US:422474003 UMLS:C1827299 human_phenotype HP:0030283 Partial absence of the septum pellucidum HP:0030283 Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain. HPO_CONTRIBUTOR:UToronto_bgallinger A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. UMLS:C4022537 Triangle shaped tongue Triangular tongue human_phenotype HP:0030284 Triangular tongue HP:0030284 A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. HPO_CONTRIBUTOR:UToronto_bgallinger Triangle shaped tongue https://orcid.org/0000-0001-5889-4463 Triangular tongue Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. UMLS:C4022536 human_phenotype HP:0030285 Splayed superior cerebellar peduncle HP:0030285 Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle. https://orcid.org/0000-0002-0736-9199 Atrophy of the superior cerebellar peduncle. UMLS:C4022535 human_phenotype HP:0030286 Atrophic superior cerebellar peduncle HP:0030286 Atrophy of the superior cerebellar peduncle. https://orcid.org/0000-0002-0736-9199 An abnormal flattening of an epiphysis of femur. UMLS:C1850642 Flattended end part of thigh bone human_phenotype HP:0030289 Flattened femoral epiphysis HP:0030289 An abnormal flattening of an epiphysis of femur. https://orcid.org/0000-0002-0736-9199 Flattended end part of thigh bone https://orcid.org/0000-0001-5208-3432 Lack of ossification of the sacrum. UMLS:C2675562 Absence of sacrum ossification human_phenotype HP:0030290 Unossified sacrum HP:0030290 Lack of ossification of the sacrum. https://orcid.org/0000-0002-0736-9199 Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. UMLS:C4022534 human_phenotype HP:0030291 Lower-limb metaphyseal irregularity HP:0030291 Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. https://orcid.org/0000-0002-0736-9199 Irregularity of the normally smooth surface of a metaphysis of a tibia. UMLS:C4022533 human_phenotype HP:0030292 Tibial metaphyseal irregularity HP:0030292 Irregularity of the normally smooth surface of a metaphysis of a tibia. https://orcid.org/0000-0002-0736-9199 Irregularity of the normally smooth surface of a metaphysis of a fibula. UMLS:C4022532 Irregularity of wide portion of calf bone human_phenotype HP:0030293 Fibular metaphyseal irregularity HP:0030293 Irregularity of the normally smooth surface of a metaphysis of a fibula. https://orcid.org/0000-0002-0736-9199 Irregularity of wide portion of calf bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022531 human_phenotype HP:0030294 Metaphyseal chondromatosis of tibia HP:0030294 UMLS:C4022530 human_phenotype HP:0030295 Metaphyseal chondromatosis of femur HP:0030295 UMLS:C4022529 human_phenotype HP:0030296 Metaphyseal chondromatosis of radius HP:0030296 UMLS:C4022528 human_phenotype HP:0030297 Metaphyseal chondromatosis of ulna HP:0030297 UMLS:C4021860 human_phenotype HP:0030298 Metaphyseal chondromatosis of humerus HP:0030298 An anomaly of the metaphysis of the distal femur (close to the knee). UMLS:C4022527 Abnormality of wide portion of outermost thighbone Distal femoral metaphyseal abnormality human_phenotype HP:0030299 Abnormal distal femoral metaphysis morphology HP:0030299 An anomaly of the metaphysis of the distal femur (close to the knee). https://orcid.org/0000-0002-0736-9199 Abnormality of wide portion of outermost thighbone https://orcid.org/0000-0001-5208-3432 Presence of only 10 (instead of the usual 12) pairs of ribs. UMLS:C4022526 10 pairs of ribs human_phenotype HP:0030300 10 pairs of ribs HP:0030300 Presence of only 10 (instead of the usual 12) pairs of ribs. HPO_CONTRIBUTOR:UToronto_bgallinger 10 pairs of ribs An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. UMLS:C4022525 human_phenotype HP:0030301 The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure. Abnormality of the anterior commissure HP:0030301 An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. HPO_CONTRIBUTOR:UToronto_bgallinger Absence of the anterior commissure. UMLS:C1851087 human_phenotype HP:0030302 Agenesis of the anterior commissure HP:0030302 Absence of the anterior commissure. HPO_CONTRIBUTOR:UToronto_bgallinger Underdevelopment of the anterior commissure. UMLS:C4022524 human_phenotype HP:0030303 Hypoplastic anterior commissure HP:0030303 Underdevelopment of the anterior commissure. HPO_CONTRIBUTOR:UToronto_bgallinger A deviation from the normal number of vertebrae in the spinal column. UMLS:C4022523 human_phenotype HP:0030304 Abnormal number of vertebrae HP:0030304 A deviation from the normal number of vertebrae in the spinal column. https://orcid.org/0000-0002-0736-9199 UMLS:C4022522 human_phenotype HP:0030305 Decreased number of vertebrae HP:0030305 The presence of 11 instead of the normal 12 thoracic vertebrae. UMLS:C4022521 human_phenotype HP:0030306 11 thoracic vertebrae HP:0030306 The presence of 11 instead of the normal 12 thoracic vertebrae. HPO_CONTRIBUTOR:UToronto_bgallinger The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. UMLS:C4022520 Flared metaphysis of lower limb bone human_phenotype HP:0030307 Flared lower limb metaphysis HP:0030307 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg. https://orcid.org/0000-0002-0736-9199 Flared metaphysis of lower limb bone https://orcid.org/0000-0001-5208-3432 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. UMLS:C4022519 Flared outermost metaphysis of shankbone Flared outermost metaphysis of shinbone human_phenotype HP:0030308 Flared distal tibial metaphysis HP:0030308 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia. https://orcid.org/0000-0002-0736-9199 Flared outermost metaphysis of shankbone https://orcid.org/0000-0001-5208-3432 Flared outermost metaphysis of shinbone https://orcid.org/0000-0001-5208-3432 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. UMLS:C4022518 Flared outermost wide portion of of calf bone human_phenotype HP:0030309 Flared distal fibular metaphysis HP:0030309 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula. https://orcid.org/0000-0002-0736-9199 Flared outermost wide portion of of calf bone https://orcid.org/0000-0001-5208-3432 Displacement or malalignment of one or more joints in the upper extremity (arm). UMLS:C4022517 Dislocated arm joints human_phenotype HP:0030310 Upper extremity joint dislocation HP:0030310 Displacement or malalignment of one or more joints in the upper extremity (arm). https://orcid.org/0000-0002-0736-9199 Dislocated arm joints https://orcid.org/0000-0001-5208-3432 Displacement or malalignment of one or more joints in the lower extremity (leg). UMLS:C4022516 Dislocated leg joints human_phenotype HP:0030311 Lower extremity joint dislocation HP:0030311 Displacement or malalignment of one or more joints in the lower extremity (leg). https://orcid.org/0000-0002-0736-9199 Dislocated leg joints https://orcid.org/0000-0001-5208-3432 Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). UMLS:C1860855 Obliteration of cranial cancellous bone human_phenotype HP:0030312 Obliteration of the calvarial diploe HP:0030312 Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). https://orcid.org/0000-0002-0736-9199 Obliteration of cranial cancellous bone https://orcid.org/0000-0001-5889-4463 An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. HP:0040166 UMLS:C4022515 human_phenotype HP:0030313 Abnormal periosteum morphology HP:0030313 An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones. https://orcid.org/0000-0002-0736-9199 Abnormal deposition of periosteal bone. UMLS:C1409412 human_phenotype HP:0030314 Periostosis HP:0030314 A type of inflammation of the lips involving one or both of the corners of the mouth. SNOMEDCT_US:266429005 UMLS:C0221237 Angular cheilosis Angular stomatitis Commissural cheilitis Inflammation of corners of the mouth Inflammation of oral commisures Red and sore corners of the mouth human_phenotype HP:0030318 Angular cheilitis HP:0030318 A type of inflammation of the lips involving one or both of the corners of the mouth. https://orcid.org/0000-0002-0736-9199 Inflammation of corners of the mouth https://orcid.org/0000-0001-5889-4463 Inflammation of oral commisures https://orcid.org/0000-0001-5889-4463 Red and sore corners of the mouth https://orcid.org/0000-0001-5889-4463 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). UMLS:C4022514 Decreased facial muscle strength Decreased strength of facial muscles Face weakness Facial muscle weakness Facial weakness Myasthenia of facial muscles Reduced facial muscle strength Weakness of face Weakness of facial musculature human_phenotype HP:0030319 Weakness of facial musculature HP:0030319 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). https://orcid.org/0000-0002-0736-9199 Decreased facial muscle strength https://orcid.org/0000-0001-5889-4463 Decreased strength of facial muscles https://orcid.org/0000-0001-5889-4463 Face weakness Facial muscle weakness https://orcid.org/0000-0001-5208-3432 Facial weakness https://orcid.org/0000-0001-5208-3432 Myasthenia of facial muscles https://orcid.org/0000-0001-5889-4463 Reduced facial muscle strength https://orcid.org/0000-0001-5889-4463 Weakness of face Weakness of facial musculature An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. UMLS:C4022513 human_phenotype HP:0030320 Increased intervertebral space HP:0030320 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. https://orcid.org/0000-0002-0736-9199 An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. UMLS:C4022512 Abnormality of the vertebral artery human_phenotype HP:0030321 Abnormal vertebral artery morphology HP:0030321 An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the vertebral artery. UMLS:C1868737 human_phenotype HP:0030322 Vertebral artery hypoplasia HP:0030322 Underdevelopment of the vertebral artery on one side. UMLS:C3279090 human_phenotype HP:0030323 Unilateral vertebral artery hypoplasia HP:0030323 Underdevelopment of the vertebral artery on one side. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the vertebral artery on both sides. UMLS:C4022511 human_phenotype HP:0030324 Bilateral vertebral artery hypoplasia HP:0030324 Underdevelopment of the vertebral artery on both sides. PMID:23816871 https://orcid.org/0000-0002-0736-9199 Fissure within the spinal cord of the neck. UMLS:C4022510 human_phenotype HP:0030325 Cervicomedullary schisis HP:0030325 Fissure within the spinal cord of the neck. https://orcid.org/0000-0002-0736-9199 An anomaly in the number of macrophages. UMLS:C4022509 human_phenotype HP:0030326 Abnormal macrophage count HP:0030326 An anomaly in the number of macrophages. https://orcid.org/0000-0002-0736-9199 An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue. UMLS:C4022508 human_phenotype HP:0030327 Abnormal osteoclast count HP:0030327 Decreased number of osteoclasts in bone tissue. UMLS:C4022507 human_phenotype HP:0030328 Decreased osteoclast count HP:0030328 Decreased number of osteoclasts in bone tissue. PMID:3513575 https://orcid.org/0000-0002-0736-9199 Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). UMLS:C3549703 Retinal thinning human_phenotype HP:0030329 Retinal thinning on OCT HP:0030329 Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). https://orcid.org/0000-0002-0736-9199 Retinal thinning The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. UMLS:C4022506 human_phenotype HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage HP:0030330 The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. https://orcid.org/0000-0002-0736-9199 A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). UMLS:C4022505 human_phenotype HP:0030331 Impaired stimulus-induced skin wrinkling HP:0030331 A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth). HPO_CONTRIBUTOR:UToronto_bgallinger PMID:19375384 HP:0002843 human_phenotype HP:0030332 obsolete Abnormal T cell morphology true HP:0030332 HP:0002843 human_phenotype HP:0030333 obsolete Abnormal alpha-beta T cell morphology true HP:0030333 HP:0020111 human_phenotype HP:0030334 obsolete Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology true HP:0030334 HP:0020111 human_phenotype HP:0030335 obsolete Abnormal CD4-positive, CD25-positive regulatory T cell count true HP:0030335 HP:0020113 Absence of CD4+CD25+ Tregs human_phenotype HP:0030336 obsolete Absence of CD4-positive, CD25-positive regulatory T cells true HP:0030336 HP:0020112 human_phenotype HP:0030337 obsolete Elevated CD4-positive, CD25-positive regulatory T cell count true HP:0030337 An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). UMLS:C4072886 Abnormal circulating gonadotropin level human_phenotype HP:0030338 Abnormal circulating gonadotropin concentration HP:0030338 An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). https://orcid.org/0000-0002-0736-9199 A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). UMLS:C4072887 Decreased circulating gonadotropin level human_phenotype HP:0030339 Decreased circulating gonadotropin concentration HP:0030339 A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). https://orcid.org/0000-0002-0736-9199 HP:0000837 human_phenotype HP:0030340 obsolete Increased circulating gonadotropin level true HP:0030340 A reduction of the circulating level of follicle-stimulating hormone (FSH). UMLS:C4072889 Decreased circulating follicle stimulating hormone level human_phenotype HP:0030341 Decreased circulating follicle stimulating hormone concentration HP:0030341 A reduction of the circulating level of follicle-stimulating hormone (FSH). https://orcid.org/0000-0002-0736-9199 true HP:0030343 A reduction in the circulating level of luteinizing hormone (LH). UMLS:C4072890 Decreased circulating luteinising hormone level human_phenotype HP:0030344 Decreased circulating luteinizing hormone level HP:0030344 A reduction in the circulating level of luteinizing hormone (LH). https://orcid.org/0000-0002-0736-9199 An anomaly of the circulating level of luteinizing hormone (LH). SNOMEDCT_US:166374003 UMLS:C0580438 Abnormal circulating luteinizing hormone level Abnormal luteinizing hormone level Increased circulating lutropin human_phenotype HP:0030345 Abnormal circulating luteinizing hormone concentration HP:0030345 Abnormal luteinizing hormone level https://orcid.org/0000-0002-5316-1399 Increased circulating lutropin https://orcid.org/0000-0001-5208-3432 An anomaly of the circulating level of follicle-stimulating hormone (FSH). UMLS:C4072891 Abnormal circulating follicle-stimulating hormone level human_phenotype HP:0030346 Abnormal circulating follicle-stimulating hormone concentration HP:0030346 An anomaly of the circulating level of follicle-stimulating hormone (FSH). https://orcid.org/0000-0002-0736-9199 An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072892 human_phenotype HP:0030347 Abnormal circulating androgen level HP:0030347 An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. https://orcid.org/0000-0002-0736-9199 An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072893 Hyperandrogenemia Increased circulating androgen level human_phenotype HP:0030348 Increased circulating androgen concentration HP:0030348 An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. PMID:27491213 https://orcid.org/0000-0002-0736-9199 A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. UMLS:C4072894 Decreased circulating androgen level human_phenotype HP:0030349 Decreased circulating androgen concentration HP:0030349 A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. https://orcid.org/0000-0002-0736-9199 A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. UMLS:C0747241 human_phenotype Red-blue papule HP:0030350 Erythematous papule HP:0030350 A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. https://orcid.org/0000-0002-0736-9199 A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. UMLS:C4072895 human_phenotype HP:0030351 Urticarial plaque HP:0030351 An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. UMLS:C4072896 Abnormal serum insulin-like growth factor 1 level human_phenotype HP:0030352 Abnormal circulating insulin-like growth factor 1 concentration HP:0030352 An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation. https://orcid.org/0000-0002-0736-9199 The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. UMLS:C4072897 human_phenotype HP:0030353 Decreased circulating insulin-like growth factor 1 concentration HP:0030353 The concentration of insulin-like growth factor 1 (IGF1) in the blood circulation is below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 HP:0011116 human_phenotype HP:0030354 obsolete Abnormal circulating interferon concentration true HP:0030354 Abnormal levels of interferon gamma measured in the blood circulation. UMLS:C4072899 Abnormal serum interferon-gamma level human_phenotype HP:0030355 Abnormal circulating interferon-gamma concentration HP:0030355 Abnormal levels of interferon gamma measured in the blood circulation. PMID:11335769 An elevation in the concentration of interferon gamma measured in the blood circulation. UMLS:C4072900 Increased serum interferon-gamma level human_phenotype HP:0030356 Increased circulating interferon-gamma concentration HP:0030356 An elevation in the concentration of interferon gamma measured in the blood circulation. PMID:11335769 https://orcid.org/0000-0002-0736-9199 Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. SNOMEDCT_US:254632001 SNOMEDCT_US:254633006 UMLS:C0149925 Oat cell carcinoma of lung Oat cell lung cancer Small cell lung cancer human_phenotype HP:0030357 Small cell lung carcinoma HP:0030357 Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. https://orcid.org/0000-0002-0736-9199 SNOMEDCT_US:254637007 UMLS:C0007131 Non-small cell lung cancer human_phenotype HP:0030358 Non-small cell lung carcinoma HP:0030358 A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. SNOMEDCT_US:254634000 UMLS:C0149782 human_phenotype HP:0030359 Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid. Squamous cell lung carcinoma HP:0030359 A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells. https://orcid.org/0000-0002-0736-9199 A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. SNOMEDCT_US:254629004 UMLS:C0345958 human_phenotype HP:0030360 Large cell lung carcinoma HP:0030360 A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). UMLS:C4072901 Abnormality of icosanoid metabolism human_phenotype HP:0030361 The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle. Abnormal circulating eicosanoid concentration HP:0030361 Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid). https://orcid.org/0000-0002-0736-9199 A reduction in the level of carnitine in muscle tissue. UMLS:C4072902 human_phenotype HP:0030362 Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels. Reduced muscle carnitine level HP:0030362 A reduction in the level of carnitine in muscle tissue. PMID:8174281 PMID:8472351 https://orcid.org/0000-0002-0736-9199 Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. UMLS:C4072903 human_phenotype HP:0030363 Primary Caesarian section HP:0030363 Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section. https://orcid.org/0000-0002-0736-9199 Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. UMLS:C4072904 human_phenotype HP:0030364 Secondary Caesarian section HP:0030364 Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth. https://orcid.org/0000-0002-0736-9199 Vaginal birth after Caesarean (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. UMLS:C0080301 human_phenotype HP:0030365 Vaginal birth after Caesarean HP:0030365 Vaginal birth after Caesarean (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally. PMID:24104780 https://orcid.org/0000-0002-0736-9199 The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. UMLS:C4072905 human_phenotype HP:0030366 Delivery by Odon device HP:0030366 The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process. PMID:23962177 https://orcid.org/0000-0002-0736-9199 Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. UMLS:C4072906 human_phenotype HP:0030367 Finger hyperphalangy HP:0030367 An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. UMLS:C4072907 Hyperphalangy of index finger human_phenotype HP:0030368 Hyperphalangy of the 2nd finger HP:0030368 An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. PMID:25480037 PMID:6540680 https://orcid.org/0000-0002-0736-9199 Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. UMLS:C4072908 human_phenotype HP:0030369 Induced vaginal delivery HP:0030369 Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. https://orcid.org/0000-0002-0736-9199 Abnormal increase or decrease of the naive B cell subpopulation, commonly characterized as CD27-IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. UMLS:C4072909 Abnormal proportion of naive B cells human_phenotype HP:0030370 Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen Abnormal naive B cell proportion HP:0030370 Abnormal increase or decrease of the naive B cell subpopulation, commonly characterized as CD27-IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. PMID:32569607 https://orcid.org/0000-0002-0736-9199 The proportion of naive B cellsin the blood circulation is above the upper limit of normal with respect to the reference range for a given sex and age-group. UMLS:C4072910 Increased proportion of naive B cells human_phenotype HP:0030371 Increased naive B cell proportion HP:0030371 The proportion of naive B cellsin the blood circulation is above the upper limit of normal with respect to the reference range for a given sex and age-group. PMID:32569607 https://orcid.org/0000-0002-0736-9199 The proportion of naive B cellsin the blood circulation is below the lower limit of normal with respect to the reference range for a given sex and age-group. UMLS:C4072911 Decreased proportion of naive B cells human_phenotype HP:0030372 Decreased naive B cell proportion HP:0030372 The proportion of naive B cellsin the blood circulation is below the lower limit of normal with respect to the reference range for a given sex and age-group. PMID:32569607 https://orcid.org/0000-0002-0736-9199 A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072912 Abnormal proportion of memory B cells human_phenotype HP:0030373 Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry. Abnormal memory B cell proportion HP:0030373 A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). PMID:15771579 https://orcid.org/0000-0002-0736-9199 A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072913 human_phenotype HP:0030374 Decreased memory B cell proportion HP:0030374 A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). https://orcid.org/0000-0002-0736-9199 An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). UMLS:C4072914 human_phenotype HP:0030375 Increased memory B cell proportion HP:0030375 An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). https://orcid.org/0000-0002-0736-9199 A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072915 Abnormal proportion of CD19+/CD21low B cells Abnormal proportion of immature B cells human_phenotype HP:0030376 Abnormal immature B cell proportion HP:0030376 A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). https://orcid.org/0000-0002-0736-9199 An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072916 Increased proportion of CD19+/CD21low B cells Increased proportion of immature B cells human_phenotype HP:0030377 Increased immature B cell proportion HP:0030377 An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). https://orcid.org/0000-0002-0736-9199 A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). UMLS:C4072917 Decreased proportion of CD19+/CD21low B cells Decreased proportion of immature B cells human_phenotype HP:0030378 Decreased immature B cell proportion HP:0030378 A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+). https://orcid.org/0000-0002-0736-9199 Abnormal increase or decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. UMLS:C4072918 Abnormal proportion of CD19+CD38+IgM+ cells Abnormal proportion of transitional B cells human_phenotype HP:0030379 B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. Abnormal transitional B cell proportion HP:0030379 Abnormal increase or decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. PMID:23731328 https://orcid.org/0000-0002-0736-9199 Abnormal decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. UMLS:C4072919 Decreased proportion of CD19+CD38+IgM+ cells Decreased proportion of transitional B cells human_phenotype HP:0030380 Decreased transitional B cell proportion HP:0030380 Abnormal decrease of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 Abnormal increase of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. UMLS:C4072920 Increased proportion of CD19+CD38+IgM+ cells Increased proportion of transitional B cells human_phenotype HP:0030381 Increased transitional B cell proportion HP:0030381 Abnormal increase of the transitional B cell subpopulation, commonly characterized as CD27-CD24hiCD38hi or CD27-IgMhiCD38hi, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072921 Abnormal proportion of marginal zone B cells human_phenotype HP:0030383 Abnormal marginal zone B cell proportion HP:0030383 A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. PMID:9802980 https://orcid.org/0000-0002-0736-9199 A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072922 human_phenotype HP:0030384 Decreased marginal zone B cell proportion HP:0030384 A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. PMID:9802980 An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. UMLS:C4072923 human_phenotype HP:0030385 Increased marginal zone B cell proportion HP:0030385 An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. PMID:9802980 https://orcid.org/0000-0002-0736-9199 A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4072924 Abnormal proportion of CD19+CD27+IgD- cells Abnormal proportion of class-switched memory B cells human_phenotype HP:0030386 Abnormal class-switched memory B cell proportion HP:0030386 A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. PMID:19342988 https://orcid.org/0000-0002-0736-9199 An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4073288 Increased proportion of CD19+CD27+IgD- cells human_phenotype HP:0030387 Increased class-switched memory B cell proportion HP:0030387 An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. https://orcid.org/0000-0002-0736-9199 A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. UMLS:C4072925 Decreased proportion of CD19+CD27+IgD- cells Decreased proportion of class-switched memory B cells human_phenotype HP:0030388 Decreased class-switched memory B cell proportion HP:0030388 A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of thromboxane in the blood circulation. Abnormal circulating thromboxane concentration Abnormal thromboxane level human_phenotype HP:0030389 Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels. Abnormal circulating thromboxane concentration HP:0030389 An abnormally decreased concentration of leukotriene C4 in the blood circulation. UMLS:C4072927 human_phenotype HP:0030390 Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway. Reduced circulating leukotriene C4 concentration HP:0030390 An abnormally decreased concentration of leukotriene C4 in the blood circulation. PMID:9820300 Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. UMLS:C4072928 human_phenotype HP:0030391 Spoken word recognition deficit HP:0030391 Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. https://orcid.org/0000-0002-0736-9199 Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. SNOMEDCT_US:88252006 UMLS:C0431109 human_phenotype HP:0030392 Choroid plexus carcinoma HP:0030392 Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. PMID:11135453 https://orcid.org/0000-0002-0736-9199 A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). SNOMEDCT_US:699817008 UMLS:C2348239 Aggressive papillary middle ear tumor Aggressive papillary middle ear tumour Endolymphatic sac tumour Heffner tumor Heffner tumour Low-grade adenocarcinoma of endolymphatic sac origin human_phenotype HP:0030393 Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma. Endolymphatic sac tumor HP:0030393 A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). PMID:24966979 Aggressive papillary middle ear tumour Endolymphatic sac tumour Heffner tumour Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. SNOMEDCT_US:276870001 UMLS:C0238122 human_phenotype HP:0030394 Fallopian tube carcinoma HP:0030394 Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk. NCIT:C3867 https://orcid.org/0000-0002-0736-9199 Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. UMLS:C4072929 human_phenotype HP:0030396 Abnormal platelet granule secretion HP:0030396 Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. PMID:19450911 https://orcid.org/0000-0002-0736-9199 Abnormal release of dense granules from platelets. UMLS:C4072930 human_phenotype HP:0030397 Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin. Abnormal platelet dense granule secretion HP:0030397 Abnormal release of dense granules from platelets. https://orcid.org/0000-0002-0736-9199 Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP). UMLS:C4072931 human_phenotype HP:0030398 Abnormal platelet ATP dense granule secretion HP:0030398 Abnormal release of alpha granule contents from platelets. UMLS:C4072932 human_phenotype HP:0030399 Abnormal platelet alpha granule secretion HP:0030399 Abnormal release of alpha granule contents from platelets. https://orcid.org/0000-0002-0736-9199 Abnormal release of lysosome contents from platelets. UMLS:C4072933 human_phenotype HP:0030400 Abnormal platelet lysosome secretion HP:0030400 Abnormal release of lysosome contents from platelets. https://orcid.org/0000-0002-0736-9199 Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. UMLS:C4072934 human_phenotype HP:0030401 Abnormal platelet dense granule ATP/ADP ratio HP:0030401 Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets. https://orcid.org/0000-0002-0736-9199 An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. UMLS:C0541767 human_phenotype HP:0030402 Abnormal platelet aggregation HP:0030402 An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. https://orcid.org/0000-0002-0736-9199 Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. UMLS:C1868263 human_phenotype HP:0030403 Spontaneous platelet aggregation HP:0030403 Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation. https://orcid.org/0000-0002-0736-9199 An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. SNOMEDCT_US:128855009 SNOMEDCT_US:16424000 SNOMEDCT_US:302823005 UMLS:C0017689 human_phenotype HP:0030404 The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism. Glucagonoma HP:0030404 An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. https://orcid.org/0000-0002-0736-9199 A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. SNOMEDCT_US:126864006 SNOMEDCT_US:128878003 SNOMEDCT_US:237596009 SNOMEDCT_US:399528006 SNOMEDCT_US:76345009 UMLS:C0242363 Pancreatic endocrine tumour human_phenotype HP:0030405 Pancreatic endocrine tumor HP:0030405 A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. https://orcid.org/0000-0002-0736-9199 Pancreatic endocrine tumour A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. UMLS:C1514428 human_phenotype HP:0030406 Primary peritoneal carcinoma HP:0030406 A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. https://orcid.org/0000-0002-0736-9199 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I). NCIT:C6966 SNOMEDCT_US:255045009 SNOMEDCT_US:89096009 UMLS:C0917890 human_phenotype HP:0030407 Pineocytoma HP:0030407 Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. HP:0040193 SNOMEDCT_US:31671006 UMLS:C0205898 Pinealoblastoma human_phenotype HP:0030408 Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients. Pineoblastoma HP:0030408 Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells. PMID:21717450 https://orcid.org/0000-0002-0736-9199 A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. SNOMEDCT_US:408642003 UMLS:C1319314 Renal urothelial carcinoma Transitional renal cell carcinoma renal TCC human_phenotype HP:0030409 Renal transitional cell carcinoma HP:0030409 A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. https://orcid.org/0000-0002-0736-9199 Renal urothelial carcinoma https://orcid.org/0000-0002-5316-1399 Transitional renal cell carcinoma https://orcid.org/0000-0002-5316-1399 A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) SNOMEDCT_US:307599002 SNOMEDCT_US:54734006 UMLS:C0206684 Sebaceous carcinoma human_phenotype HP:0030410 Sebaceous gland carcinoma HP:0030410 A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) https://orcid.org/0000-0002-0736-9199 A malignant epithelial tumor with a glandular organization that originates in the jejunum. NCIT:C2852 UMLS:C4072935 human_phenotype HP:0030411 Jejunal adenocarcinoma HP:0030411 A malignant epithelial tumor with a glandular organization that originates in the jejunum. https://orcid.org/0000-0002-0736-9199 A malignant epithelial tumor with a glandular organization that originates in the ileum. NCIT:C2852 UMLS:C4072936 human_phenotype HP:0030412 Ileal adenocarcinoma HP:0030412 A malignant epithelial tumor with a glandular organization that originates in the ileum. https://orcid.org/0000-0002-0736-9199 A carcinoma derived from a squamous epithelial cell of the tongue. SNOMEDCT_US:276952000 UMLS:C0349566 human_phenotype HP:0030413 Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time. Squamous cell carcinoma of the tongue HP:0030413 A carcinoma derived from a squamous epithelial cell of the tongue. https://orcid.org/0000-0002-0736-9199 A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance. UMLS:C4072937 human_phenotype HP:0030414 Verrucous cell carcinoma of the tongue HP:0030414 Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. UMLS:C2018408 Spindle cell carcinoma of the tongue human_phenotype HP:0030415 Sarcomatoid carcinoma of the tongue HP:0030415 Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation. PMID:20730609 https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the female external genital tract (vulva). NCIT:C3262 SNOMEDCT_US:126922007 UMLS:C0042995 Neoplasm of the vulva Tumor of the vulva Tumour of the vulva human_phenotype HP:0030416 Vulvar neoplasm HP:0030416 A tumor (abnormal growth of tissue) of the female external genital tract (vulva). https://orcid.org/0000-0002-0736-9199 Tumor of the vulva https://orcid.org/0000-0001-6908-9849 Tumour of the vulva A cancer that originates in the squamous cells that line the surface of the vulva. SNOMEDCT_US:254895003 UMLS:C0280856 Vulval squamous cell carcinoma human_phenotype HP:0030417 Squamous cell carcinoma of the vulva HP:0030417 A cancer that originates in the squamous cells that line the surface of the vulva. PMID:25848321 https://orcid.org/0000-0002-0736-9199 A type of vulvar cancer that originates from melanocytes of the vulva. SNOMEDCT_US:254896002 UMLS:C0241989 human_phenotype HP:0030418 The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora. Vulvar melanoma HP:0030418 A type of vulvar cancer that originates from melanocytes of the vulva. PMID:8723827 https://orcid.org/0000-0002-0736-9199 A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. SNOMEDCT_US:276876007 SNOMEDCT_US:399533005 UMLS:C0349561 human_phenotype HP:0030419 Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas. Bartholin gland carcinoma HP:0030419 A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina. PMID:25013508 https://orcid.org/0000-0002-0736-9199 An adenocarcinoma arising in the vulva. UMLS:C1336975 human_phenotype HP:0030420 Vulvar adenocarcinoma HP:0030420 An adenocarcinoma arising in the vulva. PMID:23761517 https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. NCIT:C3262 SNOMEDCT_US:126902008 UMLS:C0346239 human_phenotype HP:0030421 Epididymal neoplasm HP:0030421 A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens. https://orcid.org/0000-0002-0736-9199 HP:0009715 human_phenotype HP:0030422 obsolete Papillary cystadenoma of the epididymis true HP:0030422 A closed sac located in the spleen. SNOMEDCT_US:79040006 UMLS:C0272407 Cyst on spleen human_phenotype HP:0030423 Splenic cyst HP:0030423 A closed sac located in the spleen. PMID:24794024 https://orcid.org/0000-0002-0736-9199 Cyst on spleen https://orcid.org/0000-0001-5208-3432 A smooth, extratesticular, spherical cyst in the head of the epididymis. SNOMEDCT_US:43077002 SNOMEDCT_US:49263001 UMLS:C0037859 Epididymal cysts human_phenotype HP:0030424 Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously. Epididymal cyst HP:0030424 A smooth, extratesticular, spherical cyst in the head of the epididymis. PMID:14767330 https://orcid.org/0000-0002-0736-9199 Epididymal cysts https://orcid.org/0000-0002-5316-1399 A cyst of the ovary that exhibits deposition of calcium salts. UMLS:C4072939 human_phenotype HP:0030425 Calcified ovarian cyst HP:0030425 A cyst of the ovary that exhibits deposition of calcium salts. https://orcid.org/0000-0002-0736-9199 A benign central bone tumor composed of fibrous connective tissue within which bone is formed. SNOMEDCT_US:25603007 SNOMEDCT_US:302862001 SNOMEDCT_US:302863006 SNOMEDCT_US:80699009 UMLS:C0206640 human_phenotype HP:0030426 Ossifying fibroma HP:0030426 A benign central bone tumor composed of fibrous connective tissue within which bone is formed. https://orcid.org/0000-0002-0736-9199 A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. UMLS:C4072940 human_phenotype HP:0030427 The mandible is most commonly affected. Ossifying fibroma of the jaw HP:0030427 A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. https://orcid.org/0000-0002-0736-9199 A myxoma originating in the skin. NCIT:C6577 UMLS:C1333178 human_phenotype HP:0030428 Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component. Cutaneous myxoma HP:0030428 A myxoma originating in the skin. PMID:25118746 https://orcid.org/0000-0002-0736-9199 A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. SNOMEDCT_US:60392001 SNOMEDCT_US:716590006 UMLS:C1367536 human_phenotype HP:0030429 Juvenile nasopharyngeal angiofibroma HP:0030429 A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity. PMID:15661706 https://orcid.org/0000-0002-0736-9199 A tumor made up of nerve cells and nerve fibers. SNOMEDCT_US:25169009 SNOMEDCT_US:274089002 SNOMEDCT_US:443892003 SNOMEDCT_US:84116009 UMLS:C0027858 UMLS:C0273482 Nerve tumor Nerve tumour Pinched nerve human_phenotype HP:0030430 Neuroma HP:0030430 A tumor made up of nerve cells and nerve fibers. https://orcid.org/0000-0002-0736-9199 Nerve tumor http://www.apma.org/learn/foothealth.cfm?itemnumber=987 https://orcid.org/0000-0001-5208-3432 Nerve tumour Pinched nerve http://www.apma.org/learn/foothealth.cfm?itemnumber=987 https://orcid.org/0000-0001-5208-3432 A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. SNOMEDCT_US:307573009 SNOMEDCT_US:443093007 SNOMEDCT_US:52299001 UMLS:C0029423 Osteocartilaginous exostoses Osteochondromas human_phenotype HP:0030431 Osteochondroma HP:0030431 A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. PMID:18271966 https://orcid.org/0000-0002-0736-9199 Osteocartilaginous exostoses https://en.wikipedia.org/wiki/osteochondroma https://orcid.org/0000-0001-5208-3432 Osteochondromas https://orcid.org/0000-0002-5316-1399 A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. SNOMEDCT_US:9001003 UMLS:C0008441 human_phenotype HP:0030432 Chondroblastomas of bone are rare benign bone tumors, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumor consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases. Chondroblastoma HP:0030432 A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. PMID:19387641 https://orcid.org/0000-0002-0736-9199 A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. SNOMEDCT_US:302859004 SNOMEDCT_US:71666005 UMLS:C0029441 human_phenotype HP:0030433 Osteoid osteoma HP:0030433 A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone. PMID:23329939 https://orcid.org/0000-0002-0736-9199 Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. SNOMEDCT_US:274901004 SNOMEDCT_US:44155009 UMLS:C0206711 human_phenotype HP:0030434 Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma. Pilomatrixoma HP:0030434 Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. PMID:21430899 https://orcid.org/0000-0002-0736-9199 Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. SNOMEDCT_US:128683008 SNOMEDCT_US:254699007 UMLS:C0346011 Fibrofolliculomas human_phenotype HP:0030436 Fibrofolliculoma HP:0030436 Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. PMID:17804924 https://orcid.org/0000-0002-0736-9199 Fibrofolliculomas https://orcid.org/0000-0002-5316-1399 NCIT:C3262 SNOMEDCT_US:126850006 UMLS:C0345883 Anal canal tumor Anal canal tumour human_phenotype HP:0030437 Anal canal neoplasm HP:0030437 Anal canal tumor https://orcid.org/0000-0001-5208-3432 Anal canal tumour A squamous cell carcinoma that originates in the anal canal. UMLS:C1332262 human_phenotype HP:0030438 Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation. Anal canal squamous cell carcinoma HP:0030438 A squamous cell carcinoma that originates in the anal canal. PMID:22379406 https://orcid.org/0000-0002-0736-9199 An adenoma carcinoma that originates in the anal canal. NCIT:C2852 UMLS:C1332259 human_phenotype HP:0030439 Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump. Anal canal adenocarcinoma HP:0030439 An adenoma carcinoma that originates in the anal canal. PMID:22379406 https://orcid.org/0000-0002-0736-9199 A tumor of the anal margin. UMLS:C2064234 human_phenotype HP:0030440 The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge. Anal margin neoplasm HP:0030440 A tumor of the anal margin. PMID:22379406 https://orcid.org/0000-0002-0736-9199 An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. UMLS:C1332270 human_phenotype HP:0030441 Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease. Anal margin Paget's disease HP:0030441 An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells. PMID:22379406 https://orcid.org/0000-0002-0736-9199 A squamous cell carcinoma that originates in the skin of the anal margin. SNOMEDCT_US:255084004 UMLS:C1412037 human_phenotype HP:0030442 Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy. Anal margin squamous cell carcinoma HP:0030442 A squamous cell carcinoma that originates in the skin of the anal margin. PMID:22379406 https://orcid.org/0000-0002-0736-9199 A basal cell carcinoma that originates in the anal margin. UMLS:C1332269 human_phenotype HP:0030443 Anal margin basal cell carcinoma HP:0030443 A basal cell carcinoma that originates in the anal margin. https://orcid.org/0000-0002-0736-9199 A melanoma that originates in the anal margin. UMLS:C4072941 human_phenotype HP:0030444 Anal margin melanoma HP:0030444 A melanoma that originates in the anal margin. https://orcid.org/0000-0002-0736-9199 A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. SNOMEDCT_US:254627002 UMLS:C0280089 Lung carcinoid tumor Lung carcinoid tumour Pulmonary carcinoid tumour human_phenotype HP:0030445 Pulmonary carcinoid tumor HP:0030445 A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. PMID:21043816 PMID:24179657 https://orcid.org/0000-0002-0736-9199 Lung carcinoid tumour Pulmonary carcinoid tumour UMLS:C4072942 Atypical pulmonary carcinoid tumour human_phenotype HP:0030446 Atypical pulmonary carcinoid tumor HP:0030446 Atypical pulmonary carcinoid tumour A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. SNOMEDCT_US:253001006 SNOMEDCT_US:254729005 SNOMEDCT_US:5052009 UMLS:C0007129 Anaplastic carcinoma of the skin Cutaneous APUDoma Merkel cell cancer of the skin Neuroendocrine carcinoma of the skin Neuroendocrine tumor of the skin Neuroendocrine tumour of the skin Primary small cell carcinoma of the skin Primary undifferentiated carcinoma of the skin human_phenotype HP:0030447 Merkel cell skin cancer HP:0030447 A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features. PMID:16565213 https://orcid.org/0000-0002-0736-9199 Neuroendocrine tumour of the skin A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. SNOMEDCT_US:2424003 SNOMEDCT_US:269469005 SNOMEDCT_US:424413001 SNOMEDCT_US:424952003 UMLS:C1261473 Soft tissue sarcomas human_phenotype HP:0030448 Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum. Soft tissue sarcoma HP:0030448 A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. https://orcid.org/0000-0002-0736-9199 Soft tissue sarcomas https://orcid.org/0000-0002-5316-1399 Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. SNOMEDCT_US:386641000 UMLS:C0000820 human_phenotype HP:0030449 Therapeutic abortion HP:0030449 Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice. https://orcid.org/0000-0002-0736-9199 A tumor that arises from an element of the autonomic nervous system. NCIT:C5112 UMLS:C4072943 human_phenotype HP:0030450 Neoplasm of the autonomic nervous system HP:0030450 A closed fluid filled sac originating from the mesentary. SNOMEDCT_US:253802003 SNOMEDCT_US:27970007 UMLS:C0025467 human_phenotype HP:0030451 A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimeters to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites. Mesenteric cyst HP:0030451 A closed fluid filled sac originating from the mesentary. PMID:24936122 https://orcid.org/0000-0002-0736-9199 A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. UMLS:C4072944 human_phenotype HP:0030452 Chylolymphatic mesenteric cyst HP:0030452 A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid. PMID:19946589 https://orcid.org/0000-0002-0736-9199 UMLS:C4072945 human_phenotype HP:0030453 Abnormal visual electrophysiology HP:0030453 The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. SNOMEDCT_US:442770004 UMLS:C0159104 Abnormal EOG human_phenotype HP:0030454 Abnormal electrooculogram HP:0030454 The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. PMID:21298321 UMLS:C4072946 human_phenotype HP:0030455 Abnormality of pattern visual evoked potentials HP:0030455 UMLS:C4072947 Abnormality of pattern onset/offset VEP human_phenotype HP:0030456 Abnormality of pattern onset/offset visual evoked potentials HP:0030456 UMLS:C4072948 Abnormal amplitude of pattern onset/offset VEP human_phenotype HP:0030457 Abnormal amplitude of pattern onset/offset visual evoked potentials HP:0030457 UMLS:C4072949 human_phenotype HP:0030458 Abnormal timing of pattern onset/offset visual evoked potentials HP:0030458 UMLS:C4072950 human_phenotype HP:0030460 Abnormal timing of pattern reversal visual evoked potentials HP:0030460 UMLS:C4072951 human_phenotype HP:0030461 Abnormal timing of flash visual evoked potentials HP:0030461 UMLS:C4072952 human_phenotype HP:0030462 Abnormal amplitude of flash visual evoked potentials HP:0030462 UMLS:C4072953 Crossed asymmetry of flash visual evoked potentials human_phenotype HP:0030463 Asymmetrical distribution of flash visual evoked potentials HP:0030463 UMLS:C4072954 Crossed asymmetry of pattern reversal visual evoked potentials human_phenotype HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials HP:0030464 No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. UMLS:C4072955 Absent photopic (cone) responses on ERG non-detectable photopic ERG human_phenotype HP:0030465 Undetectable light-adapted electroretinogram HP:0030465 No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. PMID:25502644 An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG. UMLS:C4072956 human_phenotype HP:0030466 The full-field electroretinogram (ffERG) is an ophthalmologic test that provides non-invasive objective quantitative measures of the electrical activity in the retina. The ffERG represents an electrical response from the retina to a flash of light and measures global retinal function. Abnormal full-field electroretinogram HP:0030466 An anomaly observed by full-field electroretinogram (ffERG). The ffERG measures the light-induced electrical activity of the retina at the corneal surface. Specifically, the ffERG records the global or total retinal electrical response to a full-field (Ganzfield) light stimulus. Isolation of the rod and cone components has important diagnostic value in differentiating between various retinal diseases. Modifying the properties of the light-stimulus (wavelength, strength, and flicker rate) as well as the adaptive state of the retina can separate the rod and cone functions of the ffERG. PMID:32491415 An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. UMLS:C4072957 human_phenotype HP:0030467 Abnormal pattern electroretinogram HP:0030467 An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light. PMID:17522779 PMID:3076152 https://orcid.org/0000-0002-0736-9199 UMLS:C4072958 human_phenotype HP:0030468 Abnormal multifocal electroretinogram HP:0030468 An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function. UMLS:C4072959 human_phenotype HP:0030469 After a period of dark adaptation (usually 20 to 30 minutes), the retinal rods reach peak sensitivity. Abnormal dark-adapted electroretinogram HP:0030469 An electroretinographic anomaly detected by dark-adapted full-field ERG. The dark adapted ERG targets rod-pathway function. PMID:10532405 UMLS:C4072960 human_phenotype HP:0030470 Abnormal dark-adapted bright flash electroretinogram HP:0030470 UMLS:C4072961 human_phenotype HP:0030471 Abnormal dark-adapted dim flash electroretinogram HP:0030471 UMLS:C4072962 human_phenotype HP:0030472 Abnormal light-adapted single flash electroretinogram HP:0030472 UMLS:C4072963 Abnormal light adapted flicker electroretinogram Abnormal light-adapted 30Hz flicker ERG Abnormal light-adapted 30Hz flicker electroretinogram Abnormal light-adapted flicker ERG human_phenotype HP:0030473 Abnormal light-adapted flicker electroretinogram HP:0030473 Abnormal light-adapted 30Hz flicker ERG Abnormal light-adapted flicker ERG UMLS:C4072964 human_phenotype HP:0030474 Undetectable dark-adapted electroretinogram HP:0030474 UMLS:C4072965 human_phenotype HP:0030475 Abnormal timing of dark-adapted dim flash electroretinogram HP:0030475 UMLS:C4072966 human_phenotype HP:0030476 Abnormal amplitude of dark-adapted dim flash electroretinogram HP:0030476 UMLS:C4072967 human_phenotype HP:0030477 Abnormal timing of dark-adapted bright flash electroretinogram HP:0030477 UMLS:C4072968 human_phenotype HP:0030478 Abnormal amplitude of dark-adapted bright flash electroretinogram HP:0030478 UMLS:C4072969 human_phenotype HP:0030479 Abnormal amplitude of light-adapted flicker electroretinogram HP:0030479 UMLS:C4072970 human_phenotype HP:0030480 Abnormal timing of light-adapted flicker electroretinogram HP:0030480 UMLS:C4072971 human_phenotype HP:0030481 Abnormal amplitude of light-adapted single flash electroretinogram HP:0030481 UMLS:C4072972 human_phenotype HP:0030482 Abnormal timing of light-adapted single flash electroretinogram HP:0030482 An abnormal reduction in the amplitude of the a-wave. UMLS:C4072973 human_phenotype HP:0030483 Reduced amplitude of dark-adapted bright flash electroretinogram a-wave HP:0030483 The b-wave amplitude exceeding the upper limit of normal under scotopic (dark-adapted) conditions with high-intensity stimulation. UMLS:C4072974 Relatively enhanced S-cone responses human_phenotype HP:0030484 The S (short wavelength) cones respond to blue wavelengths. This feature is defined by a super-normal photoreceptor component elicited by short-wavelength lights and a subnormal photoreceptor component elicited by long-wavelength lights. The super-normal component derives from S cones. Individuals with pathogenic variation in NR2E3, which causes enhanced S cone syndrome, may have an increased ratio of S cones to other cones. Supernormal dark-adapted bright flash electroretinogram b-wave HP:0030484 The b-wave amplitude exceeding the upper limit of normal under scotopic (dark-adapted) conditions with high-intensity stimulation. PMID:10655056 UMLS:C4072975 human_phenotype HP:0030485 Abnormal amplitude of pattern electroretinogram HP:0030485 UMLS:C4072976 human_phenotype HP:0030486 Abnormal timing of pattern electroretinogram HP:0030486 UMLS:C4072977 human_phenotype HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram HP:0030487 UMLS:C4072978 human_phenotype HP:0030488 Abnormal central response of multifocal electroretinogram HP:0030488 UMLS:C4072979 human_phenotype HP:0030489 Abnormal paracentral response of multifocal electroretinogram HP:0030489 UMLS:C4072980 human_phenotype HP:0030490 Exudative vitreoretinopathy HP:0030490 Atrophy of the capillary lamina of choroid. UMLS:C3275758 human_phenotype HP:0030491 Choriocapillaris atrophy HP:0030491 Atrophy of the capillary lamina of choroid. https://orcid.org/0000-0002-0736-9199 Increased or decreased pigmentation in the fovea. UMLS:C4072981 Abnormality of foveal pigmentation human_phenotype HP:0030493 Abnormal foveal pigmentation HP:0030493 HP:0032416 human_phenotype HP:0030494 obsolete Macular microaneurysm/hemorrhage true HP:0030494 Any structural anomaly of the blood vessels of the macula. UMLS:C4072983 Abnormal morphology of the macular vasculature Abnormality of macular vasculature human_phenotype HP:0030495 Abnormal macular vasculature morphology HP:0030495 Yellow-white intraretinal deposits in the macula typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. UMLS:C4072984 Macular exudates Macular exudation human_phenotype HP:0030496 Macular exudate HP:0030496 Yellow-white intraretinal deposits in the macula typically associated with damaged inner blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. https://orcid.org/0000-0003-0986-4123 Macular exudates Fluffy white patch in the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. UMLS:C4072985 human_phenotype HP:0030497 Cotton-wool spots (CWSs) are common retinal manifestations of ischemia in the inner retina, due to many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome. Macular cotton wool spot HP:0030497 Fluffy white patch in the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. PMID:6169833 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. UMLS:C4072986 human_phenotype HP:0030498 Macular thickening HP:0030498 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging. https://orcid.org/0000-0003-0986-4123 Drusen localted in the macula. SNOMEDCT_US:247154004 UMLS:C0677628 human_phenotype Lipid accumulation in macula HP:0030499 Drusen (singular, 'druse') are yellow or white accumulations of extracellular material that build up external to the pigment epithelium in Bruch membrane of the eye. Macular drusen HP:0030499 Drusen localted in the macula. https://orcid.org/0000-0002-0736-9199 A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger. UMLS:C4072987 Yellow/white lesion of the macula human_phenotype HP:0030500 Yellow/white macular lesion HP:0030500 Crystalline deposits in the macula, located intra-retinally. UMLS:C4072988 Refractile lesions in the macula human_phenotype HP:0030501 This feature can be ascertained by fundoscopy and fundus photography. Some crystals can be better visualized with monochromatic light imaging. Macular crystals HP:0030501 Splitting of the neuroretinal layers of the retina. SNOMEDCT_US:44268007 UMLS:C0152439 human_phenotype HP:0030502 Retinoschisis HP:0030502 Splitting of the neuroretinal layers of the retina. https://orcid.org/0000-0002-0736-9199 Localized irregular dilatation of small tortuous intraretinal blood vessels in the macular area. SNOMEDCT_US:232024000 UMLS:C0339480 Juxtafoveal telangiectasia Parafoveal telangiectasia human_phenotype HP:0030503 Macular telangiectasia can be unilateral or bilateral and may be associated to peripheral telangiectasis. Macular telangiectasia HP:0030503 Grouped, flat, well-demarcated pigmented lesions at the level of the pigment epithelium (that are said to resemble bear tracks). Less frequently, the lesions may be white ('polar bear tracks'). UMLS:C4072989 Bear track congenital hypertrophy of retinal pigment epithelium Grouped congenital hypertrophy of retinal pigment epithelium human_phenotype HP:0030504 This is a benign finding, which should be distinguished from the multiple pigmented lesions associated with familial polyposis. Clustered congenital hypertrophy of retinal pigment epithelium HP:0030504 Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. UMLS:C4072990 Nummular pigmentation of the fundus Nummular pigmentation of the retina human_phenotype HP:0030505 This type of pigmentation is encountered in CRB1-, NRL- and NR2E3-retinopathies Nummular pigmentation of the retina HP:0030505 Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. PMID:21763485 An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big. UMLS:C4072991 Yellow/white lesions of the retina human_phenotype HP:0030506 Yellow/white retinal lesion HP:0030506 Crystalline deposits in the retina. UMLS:C4072992 human_phenotype HP:0030507 Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy). Retinal crystals HP:0030507 Crystalline deposits in the retina. PMID:12498506 HP:0011513 human_phenotype HP:0030508 obsolete Retinal cavernous hemangioma true HP:0030508 UMLS:C4072993 Retinal racemose haemangioma human_phenotype HP:0030509 Retinal racemose hemangioma HP:0030509 UMLS:C1862062 human_phenotype HP:0030510 Combined hamartoma of the retinal pigment epithelium and retina HP:0030510 Difficulty in seeing moving objects. SNOMEDCT_US:711163009 UMLS:C1842073 Difficulty seeing moving objects human_phenotype HP:0030511 Bradyopsia HP:0030511 Difficulty in seeing moving objects. PMID:25770143 Difficulty seeing moving objects https://orcid.org/0000-0001-5208-3432 UMLS:C4072994 human_phenotype HP:0030512 Difficulty adjusting to changes in luminance HP:0030512 UMLS:C4072995 human_phenotype HP:0030513 Difficulty adjusting from light to dark HP:0030513 UMLS:C4072996 human_phenotype HP:0030514 Difficulty adjusting from dark to light HP:0030514 Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. SNOMEDCT_US:397542006 UMLS:C1301510 Moderate reduction in visual acuity Moderate vision loss Moderate visual impairment Moderate visual loss human_phenotype HP:0030515 Moderately reduced visual acuity HP:0030515 Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1. PMID:28779882 https://orcid.org/0000-0001-5208-3432 Moderate visual impairment SNOMEDCT_US:34063005 UMLS:C0271202 Homonymous hemianopsia human_phenotype HP:0030516 Homonymous hemianopia HP:0030516 SNOMEDCT_US:344104004 SNOMEDCT_US:345121001 UMLS:C0271207 Heteronymous hemianopsia human_phenotype HP:0030517 Heteronymous hemianopia HP:0030517 UMLS:C4072997 Congruous hemianopsia human_phenotype HP:0030518 Congruous homonymous hemianopia HP:0030518 UMLS:C4072998 human_phenotype HP:0030519 Congruous heteronymous hemianopia HP:0030519 SNOMEDCT_US:87278000 UMLS:C0271208 human_phenotype HP:0030520 Binasal hemianopia HP:0030520 SNOMEDCT_US:61917005 UMLS:C0221184 human_phenotype HP:0030521 Bitemporal hemianopia HP:0030521 A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. UMLS:C4072999 Mild peripheral visual field loss human_phenotype HP:0030522 Mild constriction of peripheral visual field HP:0030522 A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians. https://orcid.org/0000-0003-0986-4123 HP:0030525 human_phenotype HP:0030523 obsolete Peripheral visual field constriction with 40-50 degrees central field preserved true HP:0030523 HP:0030525 human_phenotype HP:0030524 obsolete Peripheral visual field constriction with 30-39 degrees central field preserved true HP:0030524 Peripheral visual field constriction with 20-49 degrees binocular visual field preserved. HP:0030523 HP:0030524 UMLS:C4073002 Moderate peripheral visual field loss human_phenotype HP:0030525 Moderate constriction of peripheral visual field HP:0030525 Peripheral visual field constriction with 10-19 degrees central field preserved. UMLS:C4073003 Severe peripheral visual field loss human_phenotype HP:0030526 Severe constriction of peripheral visual field HP:0030526 Peripheral visual field constriction with <10 degrees central field preserved. UMLS:C4073004 Very severe peripheral visual field loss human_phenotype HP:0030527 Very severe constriction of peripheral visual field HP:0030527 SNOMEDCT_US:64418005 UMLS:C0271197 human_phenotype HP:0030528 Paracentral scotoma HP:0030528 An annular field defect centered on fixation. SNOMEDCT_US:129625005 UMLS:C0438434 Annular scotoma human_phenotype HP:0030529 See Figures 1 and 3 of PMID:30581310. Ring scotoma HP:0030529 An annular field defect centered on fixation. PMID:30581310 Arc-shaped blind spot SNOMEDCT_US:15462009 UMLS:C0271198 UMLS:C4280302 human_phenotype HP:0030530 Arcuate scotoma HP:0030530 Arc-shaped blind spot https://orcid.org/0000-0001-5208-3432 UMLS:C4073005 human_phenotype HP:0030531 Altitudinal visual field defect HP:0030531 UMLS:C4073006 human_phenotype HP:0030532 Visual acuity test abnormality HP:0030532 UMLS:C4073007 human_phenotype HP:0030533 Abnormal unaided visual acuity test HP:0030533 UMLS:C4073008 human_phenotype HP:0030534 Abnormal best corrected visual acuity test HP:0030534 UMLS:C4073009 human_phenotype HP:0030535 Abnormal pinhole visual acuity test HP:0030535 UMLS:C4073010 human_phenotype HP:0030536 Unaided visual acuity 0.1 LogMAR HP:0030536 UMLS:C4073011 human_phenotype HP:0030537 Unaided visual acuity 0.2 LogMAR HP:0030537 UMLS:C4073012 human_phenotype HP:0030538 Unaided visual acuity 0.3 LogMAR HP:0030538 UMLS:C4073013 human_phenotype HP:0030539 Unaided visual acuity 0.4 LogMAR HP:0030539 UMLS:C4073014 human_phenotype HP:0030540 Unaided visual acuity 0.5 LogMAR HP:0030540 UMLS:C4073015 human_phenotype HP:0030541 Unaided visual acuity 0.6 LogMAR HP:0030541 UMLS:C4073016 human_phenotype HP:0030542 Unaided visual acuity 0.7 LogMAR HP:0030542 UMLS:C4073017 human_phenotype HP:0030543 Unaided visual acuity 0.8 LogMAR HP:0030543 UMLS:C4073018 human_phenotype HP:0030544 Unaided visual acuity 0.9 LogMAR HP:0030544 UMLS:C4073019 human_phenotype HP:0030545 Unaided visual acuity 1.0 LogMAR HP:0030545 UMLS:C4073020 human_phenotype HP:0030546 Unaided visual acuity 1.1 LogMAR HP:0030546 UMLS:C4073021 human_phenotype HP:0030547 Unaided visual acuity 1.2 LogMAR HP:0030547 UMLS:C4073022 human_phenotype HP:0030548 Unaided visual acuity 1.3 LogMAR HP:0030548 UMLS:C4073023 human_phenotype HP:0030549 Unaided visual acuity 2.0 LogMAR HP:0030549 UMLS:C4073024 human_phenotype HP:0030550 Unaided visual acuity 3.0 LogMAR HP:0030550 UMLS:C4073025 human_phenotype HP:0030551 Visual acuity light perception with projection HP:0030551 UMLS:C4073026 human_phenotype HP:0030552 Visual acuity light perception without projection HP:0030552 SNOMEDCT_US:63063006 UMLS:C0442774 human_phenotype HP:0030553 Visual acuity no light perception HP:0030553 UMLS:C4073027 human_phenotype HP:0030554 Best corrected visual acuity 0.1 LogMAR HP:0030554 UMLS:C4073028 human_phenotype HP:0030555 Best corrected visual acuity 0.2 LogMAR HP:0030555 UMLS:C4073029 human_phenotype HP:0030556 Best corrected visual acuity 0.3 LogMAR HP:0030556 UMLS:C4073030 human_phenotype HP:0030557 Best corrected visual acuity 0.4 LogMAR HP:0030557 UMLS:C4073031 human_phenotype HP:0030558 Best corrected visual acuity 0.5 LogMAR HP:0030558 UMLS:C4073032 human_phenotype HP:0030559 Best corrected visual acuity 0.7 LogMAR HP:0030559 UMLS:C4073033 human_phenotype HP:0030560 Best corrected visual acuity 0.6 LogMAR HP:0030560 UMLS:C4073034 human_phenotype HP:0030561 Best corrected visual acuity 0.8 LogMAR HP:0030561 UMLS:C4073035 human_phenotype HP:0030562 Best corrected visual acuity 0.9 LogMAR HP:0030562 UMLS:C4073036 human_phenotype HP:0030563 Best corrected visual acuity 1.0 LogMAR HP:0030563 UMLS:C4073037 human_phenotype HP:0030564 Best corrected visual acuity 1.1 LogMAR HP:0030564 UMLS:C4073038 human_phenotype HP:0030565 Best corrected visual acuity 1.2 LogMAR HP:0030565 UMLS:C4073039 human_phenotype HP:0030566 Best corrected visual acuity 1.3 LogMAR HP:0030566 UMLS:C4073040 human_phenotype HP:0030567 Best corrected visual acuity 2.0 LogMAR HP:0030567 UMLS:C4073041 human_phenotype HP:0030568 Best corrected visual acuity 3.0 LogMAR HP:0030568 UMLS:C4073042 human_phenotype HP:0030569 Pinhole visual acuity 0.1 LogMAR HP:0030569 UMLS:C4073043 human_phenotype HP:0030570 Pinhole visual acuity 0.2 LogMAR HP:0030570 UMLS:C4073044 human_phenotype HP:0030571 Pinhole visual acuity 0.3 LogMAR HP:0030571 UMLS:C4073045 human_phenotype HP:0030572 Pinhole visual acuity 0.4 LogMAR HP:0030572 UMLS:C4073046 human_phenotype HP:0030573 Pinhole visual acuity 0.5 LogMAR HP:0030573 UMLS:C4073047 human_phenotype HP:0030574 Pinhole visual acuity 0.6 LogMAR HP:0030574 UMLS:C4073048 human_phenotype HP:0030575 Pinhole visual acuity 0.7 LogMAR HP:0030575 UMLS:C4073049 human_phenotype HP:0030576 Pinhole visual acuity 0.8 LogMAR HP:0030576 UMLS:C4073050 human_phenotype HP:0030577 Pinhole visual acuity 0.9 LogMAR HP:0030577 UMLS:C4073051 human_phenotype HP:0030578 Pinhole visual acuity 1.0 LogMAR HP:0030578 UMLS:C4073052 human_phenotype HP:0030579 Pinhole visual acuity 1.1 LogMAR HP:0030579 UMLS:C4073053 human_phenotype HP:0030580 Pinhole visual acuity 1.2 LogMAR HP:0030580 UMLS:C4073054 human_phenotype HP:0030581 Pinhole visual acuity 1.3 LogMAR HP:0030581 UMLS:C4073055 human_phenotype HP:0030582 Pinhole visual acuity 2.0 LogMAR HP:0030582 UMLS:C4073056 human_phenotype HP:0030583 Pinhole visual acuity 3.0 LogMAR HP:0030583 UMLS:C4073057 Colour vision test abnormality human_phenotype HP:0030584 Color vision test abnormality HP:0030584 Colour vision test abnormality UMLS:C4073058 human_phenotype HP:0030585 Red desaturation HP:0030585 UMLS:C4073059 human_phenotype HP:0030586 Abnormal Ishihara plate test HP:0030586 UMLS:C4073060 human_phenotype HP:0030587 Abnormal Hardy-Rand-Rittler plate test HP:0030587 Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. UMLS:C0854021 human_phenotype HP:0030588 Abnormal visual field test HP:0030588 UMLS:C4073061 human_phenotype HP:0030589 Abnormal confrontational visual field test HP:0030589 UMLS:C4073062 human_phenotype HP:0030590 Abnormal Amsler grid test HP:0030590 UMLS:C4073063 human_phenotype HP:0030591 Abnormal kinetic perimetry test HP:0030591 UMLS:C4073064 human_phenotype HP:0030592 Abnormal static perimetry test HP:0030592 UMLS:C4073065 human_phenotype HP:0030593 Abnormal manual kinetic perimetry test HP:0030593 UMLS:C4073066 human_phenotype HP:0030594 Abnormal automated kinetic perimetry test HP:0030594 UMLS:C4073067 human_phenotype HP:0030595 Abnormal static automated perimetry test HP:0030595 UMLS:C4073068 human_phenotype HP:0030596 Abnormal Humphrey SITA 30-2 perimetry test HP:0030596 UMLS:C4073069 human_phenotype HP:0030597 Abnormal Humphrey SITA 24-2 perimetry test HP:0030597 UMLS:C4073070 human_phenotype HP:0030598 Abnormal Humphrey SITA 10-2 perimetry test HP:0030598 The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent. UMLS:C4073071 human_phenotype HP:0030599 Abnormal Esterman grid perimetry test HP:0030599 The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent. PMID:5694282 UMLS:C4073072 human_phenotype HP:0030601 Abnormal posterior segment imaging HP:0030601 Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. UMLS:C4073073 human_phenotype HP:0030602 Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders. Abnormal fundus autofluorescence imaging HP:0030602 Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. PMID:27847630 Optical coherence tomography (OCT) is an optical method for cross-sectional imaging with a resolution approaching that of histopathology and a depth of penetration of a few mm. In ophthalmology, OCT has become a standard of care for retinal imaging. This term groups abnormal findings that are considered OCT-specific. UMLS:C3665728 human_phenotype HP:0030603 Abnormal optical coherence tomography HP:0030603 Optical coherence tomography (OCT) is an optical method for cross-sectional imaging with a resolution approaching that of histopathology and a depth of penetration of a few mm. In ophthalmology, OCT has become a standard of care for retinal imaging. This term groups abnormal findings that are considered OCT-specific. PMID:36751306 An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation. UMLS:C4073074 human_phenotype HP:0030604 Abnormal fundus fluorescein angiography HP:0030604 UMLS:C4073075 human_phenotype HP:0030605 Abnormal indocyanine green angiography HP:0030605 UMLS:C4073076 human_phenotype HP:0030606 Abnormal OCT-measured macular thickness HP:0030606 UMLS:C4073077 human_phenotype HP:0030607 Reduced OCT-measured macular thickness HP:0030607 UMLS:C4073078 human_phenotype HP:0030608 Increased OCT-measured macular thickness HP:0030608 Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. UMLS:C4073079 human_phenotype HP:0030609 Photoreceptor layer loss on macular OCT HP:0030609 Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. https://orcid.org/0000-0002-0736-9199 UMLS:C4073080 human_phenotype HP:0030610 Photoreceptor outer segment loss on macular OCT HP:0030610 UMLS:C4073081 human_phenotype HP:0030611 Retinal pigment epithelial loss on macular OCT HP:0030611 UMLS:C4073082 human_phenotype HP:0030612 Abnormal retinal morphology on macular OCT HP:0030612 UMLS:C4073083 human_phenotype HP:0030613 Abnormal foveal morphology on macular OCT HP:0030613 UMLS:C4073084 human_phenotype HP:0030614 Foveal photoreceptor layer loss on macular OCT HP:0030614 UMLS:C4073085 human_phenotype HP:0030615 Foveal photoreceptor outer segment loss on macular OCT HP:0030615 UMLS:C4073086 human_phenotype HP:0030616 Foveal retinal pigment epithelial loss on macular OCT HP:0030616 UMLS:C4073087 human_phenotype HP:0030617 Abnormal OCT-measured foveal thickness HP:0030617 UMLS:C4073088 human_phenotype HP:0030618 Increased OCT-measured foveal thickness HP:0030618 UMLS:C4073089 human_phenotype HP:0030619 Reduced OCT-measured foveal thickness HP:0030619 UMLS:C4073090 human_phenotype HP:0030620 Inner retinal layer loss on macular OCT HP:0030620 UMLS:C4073091 human_phenotype HP:0030621 Foveal inner retinal layer loss on macular OCT HP:0030621 UMLS:C4073092 human_phenotype HP:0030622 Abnormal foveal pit on macular OCT HP:0030622 UMLS:C4073093 human_phenotype HP:0030623 Intraretinal hyporeflective spaces on macular OCT HP:0030623 UMLS:C4073094 human_phenotype HP:0030624 Subretinal hyporeflective spaces on macular OCT HP:0030624 UMLS:C4073095 human_phenotype HP:0030625 Hyporeflective spaces on macular OCT HP:0030625 UMLS:C4073096 human_phenotype HP:0030626 Foveal intraretinal hyporeflective spaces on macular OCT HP:0030626 UMLS:C4073097 human_phenotype HP:0030627 Foveal hyporeflective spaces on macular OCT HP:0030627 UMLS:C4073098 human_phenotype HP:0030628 Foveal subretinal hyporeflective spaces on macular OCT HP:0030628 UMLS:C4073099 human_phenotype HP:0030629 Perifoveal ring of hyperautofluorescence HP:0030629 UMLS:C4073100 human_phenotype HP:0030630 Irregular central macular autofluorescence HP:0030630 Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. UMLS:C4073101 human_phenotype HP:0030631 A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence. Hyperautofluorescent macular lesion HP:0030631 Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. PMID:27847630 Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. UMLS:C4073102 Hypo-autofluorescent macular lesion human_phenotype HP:0030632 Hypoautofluorescent macular lesion HP:0030632 Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. PMID:27847630 UMLS:C4073103 human_phenotype HP:0030633 Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence HP:0030633 UMLS:C4073104 human_phenotype HP:0030634 Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence HP:0030634 HP:0000556 human_phenotype HP:0030635 obsolete Retinal dystrophy with early macular involvement true HP:0030635 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. human_phenotype HP:0030636 Occult macular dystrophy HP:0030636 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities. https://orcid.org/0000-0003-0986-4123 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. UMLS:C0543968 Cone dysfunction Cone dysfunction syndrome human_phenotype HP:0030637 Congenital stationary cone dysfunction HP:0030637 Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia. https://orcid.org/0000-0003-0986-4123 HP:0007642 human_phenotype HP:0030638 obsolete Congenital stationary night blindness with normal fundus true HP:0030638 HP:0007642 human_phenotype HP:0030639 obsolete Congenital stationary night blindness with abnormal fundus true HP:0030639 HP:0007642 human_phenotype HP:0030640 obsolete Complete congenital stationary night blindness true HP:0030640 HP:0007642 human_phenotype HP:0030641 obsolete Incomplete congenital stationary night blindness true HP:0030641 Widespread white lesions of uniform, small and round appearance. SNOMEDCT_US:68222009 UMLS:C0311338 human_phenotype HP:0030642 Fundus albipunctatus HP:0030642 UMLS:C4073108 human_phenotype HP:0030643 Vitelliform-like retinal lesions HP:0030643 UMLS:C4073109 Blind spot enlargement human_phenotype HP:0030644 Blind-spot enlargement HP:0030644 Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. SNOMEDCT_US:26216008 UMLS:C0205099 human_phenotype HP:0030645 Central HP:0030645 SNOMEDCT_US:14414005 UMLS:C0205100 human_phenotype HP:0030646 Peripheral HP:0030646 UMLS:C4073110 human_phenotype HP:0030647 Paracentral HP:0030647 UMLS:C4073111 Mid-peripheral human_phenotype HP:0030648 Midperipheral HP:0030648 UMLS:C4073112 human_phenotype HP:0030649 Pericentral HP:0030649 SNOMEDCT_US:87017008 UMLS:C0205234 human_phenotype HP:0030650 Focal HP:0030650 SNOMEDCT_US:524008 UMLS:C0205292 human_phenotype HP:0030651 Multifocal HP:0030651 Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. UMLS:C4073113 human_phenotype HP:0030652 Vitreous haze HP:0030652 Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation. PMID:20719302 https://orcid.org/0000-0002-0736-9199 Any cystic lesion associated with the umbilical cord. 2015-12-21T12:39:39Z UMLS:C4073114 human_phenotype HP:0030654 Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst). Umbilical cord cyst HP:0030654 Any cystic lesion associated with the umbilical cord. PMID:10206815 PMID:12666213 An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. 2015-12-21T12:39:39Z SNOMEDCT_US:237309005 UMLS:C0344363 human_phenotype HP:0030655 When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor. Umbilical cord knot HP:0030655 An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord. PMID:25184085 Focal dilation of the umbilical vein. 2015-12-21T12:39:39Z UMLS:C4073115 human_phenotype HP:0030656 Umbilical vein varix HP:0030656 Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. 2015-12-21T12:39:39Z SNOMEDCT_US:86256001 UMLS:C0269855 Umbilical cord haematoma human_phenotype HP:0030657 Umbilical cord hematoma HP:0030657 Insertion of the umbilical cord within 2 cm from the placental edge. 2015-12-21T12:39:39Z SNOMEDCT_US:51519001 UMLS:C0266788 Battledore placenta Marginal cord insertion human_phenotype HP:0030658 Marginal cord insertion has an incidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion. The synonym battledore placenta is so named because of its resemblance to the bat used in the medieval game of battledore and shuttlecock. Marginal umbilical cord insertion HP:0030658 Insertion of the umbilical cord within 2 cm from the placental edge. PMID:26366000 PMID:29201670 Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. 2015-12-21T12:39:39Z SNOMEDCT_US:77278008 UMLS:C0266789 human_phenotype HP:0030659 Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births. Velamentous cord insertion HP:0030659 Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta. PMID:26366000 Branching of the umbilical cord before its insertion into the placenta. 2015-12-21T12:39:39Z UMLS:C4073116 human_phenotype HP:0030660 Furcate cord insertion HP:0030660 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. 2015-12-21T22:32:05Z SNOMEDCT_US:417393008 UMLS:C1563272 human_phenotype HP:0030661 Vitreous snowballs can be observed in intermediate uveitis. Vitreous snowballs HP:0030661 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery. PMID:20029143 The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous. 2015-12-21T22:32:05Z UMLS:C4073117 human_phenotype HP:0030662 Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid. Vitreous inflammatory cells HP:0030662 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. 2015-12-21T22:41:06Z UMLS:C4073118 human_phenotype HP:0030663 Optically empty vitreous HP:0030663 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. PMID:15557460 PMID:7867814 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. 2015-12-21T23:16:45Z SNOMEDCT_US:61282003 UMLS:C0231616 human_phenotype HP:0030664 Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy. Beevor's sign HP:0030664 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus. PMID:2146943 Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. 2015-12-21T23:16:45Z UMLS:C0750940 Holmes' tremor human_phenotype HP:0030665 Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity. Rubral tremor HP:0030665 Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements. PMID:6568936 In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur. 2015-12-21T23:35:47Z HP:0007850 SNOMEDCT_US:61267008 UMLS:C0035320 Retinal vascular proliferation human_phenotype HP:0030666 Retinal neovascularization HP:0030666 In ischemic retinal disease, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels. Ischemia invariably leads to the upregulation of Vascular Endothelial Growth Factor (VEGF) production. Most frequently the new vessels grow internal to the plane of the retina. However, intraretinal proliferation of new vessels can also occur. PMID:23329331 A type of retinal neovascularization that affects the periphery of the retina. 2015-12-21T23:35:47Z SNOMEDCT_US:247100001 UMLS:C0474355 human_phenotype HP:0030667 Peripheral retinal neovascularization HP:0030667 A type of retinal neovascularization that affects the periphery of the retina. PMID:22076700 https://orcid.org/0000-0002-0736-9199 A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. 2015-12-22T11:36:28Z UMLS:C4073119 human_phenotype HP:0030668 A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid. Periorbital dermoid cyst HP:0030668 A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. 2015-12-22T11:58:48Z UMLS:C4073120 human_phenotype HP:0030669 Abnormal ocular adnexa morphology HP:0030669 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region. 2015-12-23T14:15:33Z UMLS:C4073121 human_phenotype HP:0030670 Hamartoma of the orbital region HP:0030670 Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. 2015-12-23T14:27:09Z UMLS:C4073122 Abnormality of the common tendinous ring human_phenotype HP:0030671 Abnormal common tendinous ring morphology HP:0030671 Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles. https://orcid.org/0000-0002-0736-9199 The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. 2015-12-23T14:43:25Z SNOMEDCT_US:95800001 UMLS:C0521770 human_phenotype HP:0030672 Asteroid hyalosis is a degenerative process. Asteroid hyalosis HP:0030672 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. 2015-12-23T15:03:10Z SNOMEDCT_US:232064001 UMLS:C1840452 human_phenotype HP:0030673 Erosive vitreoretinopathy HP:0030673 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. PMID:8152765 Onset prior to birth. 2015-12-23T15:25:45Z UMLS:C2673646 Intrauterine onset Onset in utero Prenatal onset human_phenotype HP:0030674 Antenatal onset HP:0030674 Onset prior to birth. https://orcid.org/0000-0002-0736-9199 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. 2015-12-23T15:30:43Z UMLS:C4073123 human_phenotype HP:0030675 Contracture of proximal interphalangeal joints of 2nd-5th fingers HP:0030675 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue. HPO_CONTRIBUTOR:jdavis Sharp pointed superior portion of the ear, with variable overfolding of the helix. 2015-12-23T15:34:56Z UMLS:C4048833 Devil ear human_phenotype HP:0030676 The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear. Satyr ear HP:0030676 Sharp pointed superior portion of the ear, with variable overfolding of the helix. PMID:19152421 A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. 2015-12-23T15:38:40Z UMLS:C4073124 human_phenotype HP:0030677 Mozart ear HP:0030677 A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus. PMID:21587051 A hypopigmented spot in the shape of a leaf from the mountain ash tree. 2015-12-28T17:28:24Z UMLS:C4073125 human_phenotype HP:0030679 Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis. Ash-leaf spot HP:0030679 A hypopigmented spot in the shape of a leaf from the mountain ash tree. PMID:23761491 PMID:9637809 https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the heart and blood vessels. 2015-12-28T18:00:14Z HP:0001632 HP:0002564 HP:0002565 UMLS:C4049796 Abnormality of cardiovascular system morphology Cardiovascular malformations human_phenotype HP:0030680 Abnormal cardiovascular system morphology HP:0030680 Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). 2015-12-28T18:13:31Z UMLS:C4073289 human_phenotype HP:0030681 Abnormal morphology of myocardial trabeculae HP:0030681 Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. 2015-12-28T18:13:31Z UMLS:C1960469 human_phenotype HP:0030682 Left ventricular noncompaction HP:0030682 Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. PMID:16670098 PMID:25443708 Repeated symptomatic episodes of inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge. 2015-12-28T18:16:07Z SNOMEDCT_US:30800001 UMLS:C0042267 Vaginitis human_phenotype Vulvovaginitis HP:0030683 The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test. Recurrent bacterial vaginosis HP:0030683 A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. 2015-12-28T18:34:15Z UMLS:C4073126 human_phenotype HP:0030684 Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases. Abnormal adiponectin level HP:0030684 A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism. PMID:26221520 https://orcid.org/0000-0002-0736-9199 A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. 2015-12-28T18:34:15Z UMLS:C4073127 human_phenotype HP:0030685 Decreased adiponectin level HP:0030685 A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. https://orcid.org/0000-0002-0736-9199 An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. 2015-12-28T18:34:15Z UMLS:C4073128 human_phenotype HP:0030686 Increased adiponectin level HP:0030686 A deviation from the normal concentration of glucagon in the blood circulation. 2015-12-28T18:45:39Z UMLS:C4073129 Abnormal glucagon level human_phenotype HP:0030687 Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion. Abnormal circulating glucagon concentration HP:0030687 A deviation from the normal concentration of glucagon in the blood circulation. https://orcid.org/0000-0002-0736-9199 An elevated concentration of glucagon in the blood circulation. 2015-12-28T18:45:39Z SNOMEDCT_US:131106002 UMLS:C1295677 human_phenotype HP:0030688 Increased glucagon level HP:0030688 A reduced concentration of glucagon in the blood circulation. 2015-12-28T18:45:39Z SNOMEDCT_US:131107006 UMLS:C1295678 human_phenotype HP:0030689 Decreased glucagon level HP:0030689 A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. 2015-12-29T14:03:08Z SNOMEDCT_US:109622003 UMLS:C0426489 human_phenotype HP:0030690 Gingival cleft HP:0030690 A condition in which both eyes beat outward simultaneously. 2015-12-29T14:03:08Z UMLS:C4073130 human_phenotype HP:0030691 This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration. Divergence nystagmus HP:0030691 A benign or malignant neoplasm that arises from or metastasizes to the brain. 2016-01-07T22:49:04Z NCIT:C2907 SNOMEDCT_US:126952004 SNOMEDCT_US:254935002 UMLS:C0006118 Brain tumor Brain tumour human_phenotype HP:0030692 Brain neoplasm HP:0030692 Brain tumour A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. 2016-01-07T22:49:04Z NCIT:C3328 SNOMEDCT_US:127026004 SNOMEDCT_US:359619007 SNOMEDCT_US:47598005 UMLS:C0031941 UMLS:C0038874 Pineal parenchymal tumor Pineal parenchymal tumour human_phenotype HP:0030693 This represents a group of related tumors ranging from the relatively benign to the highly malignant. Supratentorial neoplasm HP:0030693 Pineal parenchymal tumour 2016-01-07T22:49:04Z SNOMEDCT_US:127026004 SNOMEDCT_US:359619007 SNOMEDCT_US:47598005 UMLS:C0031941 human_phenotype HP:0030694 Pineal parenchymal cell neoplasm HP:0030694 A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. 2016-02-25T21:10:43Z SNOMEDCT_US:14919007 UMLS:C2242813 Sublingual cyst Sublingual ptyalocele human_phenotype HP:0030706 Ranula HP:0030706 A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location. PMID:23291329 https://orcid.org/0000-0002-0003-6754 Lack of development of one lung. 2016-02-25T21:12:49Z UMLS:C4082952 Unilateral pulmonary agenesis human_phenotype HP:0030707 Unilateral lung agenesis HP:0030707 Unilateral pulmonary agenesis https://orcid.org/0000-0002-0003-6754 The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. 2016-02-25T21:26:13Z SNOMEDCT_US:360530005 UMLS:C0266507 human_phenotype HP:0030708 Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele. Myeloschisis HP:0030708 The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane. PMID:20885122 https://orcid.org/0000-0002-0003-6754 Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. 2016-02-25T21:32:46Z SNOMEDCT_US:203994003 SNOMEDCT_US:414667000 UMLS:C0025312 human_phenotype HP:0030709 Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra. Myelocystocele HP:0030709 Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst. PMID:9514174 https://orcid.org/0000-0002-0003-6754 A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. 2016-02-25T21:40:49Z SNOMEDCT_US:253120005 UMLS:C0431344 human_phenotype HP:0030710 Lipomeningocele HP:0030710 A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life. https://orcid.org/0000-0002-0003-6754 Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. 2016-02-25T21:44:58Z UMLS:C1399870 human_phenotype HP:0030711 This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation. Hydrocolpos HP:0030711 Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. https://orcid.org/0000-0002-0003-6754 Adhesions or scar tissue that form inside the cavity of the uterus. 2016-02-25T21:50:28Z SNOMEDCT_US:48236007 UMLS:C0156372 human_phenotype Asherman syndrome HP:0030712 Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility. Uterine synechiae HP:0030712 Adhesions or scar tissue that form inside the cavity of the uterus. https://orcid.org/0000-0002-0003-6754 Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. 2016-02-25T22:07:00Z SNOMEDCT_US:253194008 UMLS:C0431420 Median prosencephalic arteriovenous fistula Vein of Galen aneurysm Vein of Galen malformation human_phenotype HP:0030713 The most common vascular CNS anomaly in the fetal brain is the vein of Galen malformation. At prenatal US, an anechoic cystic mass is seen in the midline, superior and posterior to the third ventricle and thalamus. Color and spectral Doppler imaging demonstrate the presence of low-resistance flow and a turbulent waveform. Blood flow may be seen draining posteriorly into the venous sinuses. See Figure 13 of PMID:32706613. Vein of Galen aneurysmal malformation HP:0030713 Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen. PMID:32706613 PMID:33168212 https://orcid.org/0000-0002-0003-6754 A large maternal clot that separates the chorionic plate from the villous chorion. 2016-02-25T22:12:43Z UMLS:C1390676 Breus' mole human_phenotype HP:0030714 Subchorionic thrombohematoma HP:0030714 A large maternal clot that separates the chorionic plate from the villous chorion. PMID:11125254 https://orcid.org/0000-0002-0003-6754 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. 2016-02-25T22:19:56Z SNOMEDCT_US:50513008 UMLS:C0265776 Congenital bronchial atresia human_phenotype HP:0030715 Bronchial atresia HP:0030715 A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis. https://orcid.org/0000-0002-0003-6754 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. 2016-02-25T22:21:51Z SNOMEDCT_US:203923004 UMLS:C0702169 human_phenotype HP:0030716 Acrania HP:0030716 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. https://orcid.org/0000-0002-0003-6754 Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. 2016-02-25T22:28:31Z SNOMEDCT_US:57341009 UMLS:C0270250 human_phenotype HP:0030717 Meconium peritonitis HP:0030717 Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications. PMID:3317498 https://orcid.org/0000-0002-0003-6754 Increase in size of the right atrium. 2016-02-25T22:35:08Z Fyler:1771 Fyler:2859 SNOMEDCT_US:67751000119106 UMLS:C0748427 Dilated right atrium Enlarged heart right atrium Right atrial dilatation human_phenotype HP:0030718 This feature can be appreciated on chext radiography, MRI, or CT. Right atrial enlargement HP:0030718 Increase in size of the right atrium. https://orcid.org/0000-0002-0736-9199 A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. 2016-02-25T22:40:58Z SNOMEDCT_US:253381001 UMLS:C0344745 Rudimentary tricuspid valve leaflets Unguarded tricuspid valve orifice human_phenotype HP:0030719 Unguarded tricuspid valve HP:0030719 A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue. PMID:14246338 https://orcid.org/0000-0002-0003-6754 Cyst on the surface of the placenta consisting of amnion and chorion. 2016-02-25T22:42:41Z UMLS:C4280801 human_phenotype HP:0030720 Subchorionic septal cyst HP:0030720 Cyst on the surface of the placenta consisting of amnion and chorion. https://orcid.org/0000-0002-0003-6754 Phocomelia involving all four extremities. 2016-02-25T22:44:18Z UMLS:C1849370 human_phenotype HP:0030721 Tetraphocomelia HP:0030721 Phocomelia involving all four extremities. https://orcid.org/0000-0002-0003-6754 Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. 2016-02-25T22:47:13Z SNOMEDCT_US:253813000 UMLS:C0431603 human_phenotype HP:0030722 Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin. Ectopic liver HP:0030722 Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter. PMID:11988792 PMID:637502 https://orcid.org/0000-0002-0736-9199 Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. 2016-02-25T22:51:03Z UMLS:C4280800 human_phenotype HP:0030723 Congenital megalourethra HP:0030723 Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa. PMID:20981865 https://orcid.org/0000-0002-0003-6754 A fluid-filled sac (cyst) located within the central nervous system. 2016-02-27T08:59:31Z SNOMEDCT_US:277333006 UMLS:C0349606 CNS cyst Cyst of the central nervous system human_phenotype HP:0030724 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. Central nervous system cyst HP:0030724 A fluid-filled sac (cyst) located within the central nervous system. PMID:11593239 PMID:24455569 https://orcid.org/0000-0002-0736-9199 CNS cyst The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. 2016-02-27T08:59:31Z SNOMEDCT_US:253127008 SNOMEDCT_US:41353005 UMLS:C0027806 human_phenotype HP:0030725 Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms. Neurenteric cyst HP:0030725 The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium. PMID:20890417 https://orcid.org/0000-0002-0003-6754 A neurenteric cyst located in the spine. 2016-02-27T08:59:31Z UMLS:C4280799 human_phenotype HP:0030726 Spinal neurenteric cyst HP:0030726 A neurenteric cyst located in the spine. https://orcid.org/0000-0002-0003-6754 A neurenteric cyst located within the skull. 2016-02-27T08:59:31Z UMLS:C4280680 human_phenotype HP:0030727 Intracranial neurenteric cyst HP:0030727 A neurenteric cyst located within the skull. https://orcid.org/0000-0002-0003-6754 Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. 2016-02-27T09:05:10Z SNOMEDCT_US:60220000 UMLS:C0265549 human_phenotype HP:0030728 Meromelia HP:0030728 Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot. https://orcid.org/0000-0002-0003-6754 A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. 2016-02-27T09:26:26Z UMLS:C4280798 Frontoethmoid meningocele human_phenotype HP:0030729 Frontoethmoidal meningocele HP:0030729 A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones. https://orcid.org/0000-0002-0736-9199 A herniation of meninges through a congenital bone defect in the skull in the parietal region. 2016-02-27T09:26:26Z UMLS:C4280797 human_phenotype HP:0030730 Parietal meningocele HP:0030730 A herniation of meninges through a congenital bone defect in the skull in the parietal region. https://orcid.org/0000-0002-0736-9199 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). 2016-02-27T09:36:36Z NCIT:C2916 SNOMEDCT_US:68453008 UMLS:C0007097 human_phenotype HP:0030731 Carcinoma HP:0030731 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). https://orcid.org/0000-0002-0736-9199 A congenital malformation of the tricuspid valve characterized by leaflet deformation. 2016-03-04T06:41:36Z UMLS:C4255215 Tricuspid valve dysplasia human_phenotype HP:0030732 Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. Dysplastic tricuspid valve HP:0030732 A congenital malformation of the tricuspid valve characterized by leaflet deformation. PMID:2007717 PMID:26059011 https://orcid.org/0000-0002-0003-6754 https://orcid.org/0000-0002-0736-9199 An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. 2016-03-04T07:22:49Z UMLS:C4280796 human_phenotype HP:0030733 Vesicoallantoic abdominal wall defect HP:0030733 An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst. PMID:2521673 https://orcid.org/0000-0002-0003-6754 https://orcid.org/0000-0002-0736-9199 Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. 2016-03-13T09:18:41Z UMLS:C2609249 human_phenotype HP:0030735 Ureterovesical junction obstruction HP:0030735 Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle. https://orcid.org/0000-0002-0003-6754 A teratoma arising in the sacro-coccygeal region. 2016-03-13T09:57:33Z SNOMEDCT_US:281561000 UMLS:C0559459 human_phenotype HP:0030736 Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside. Sacrococcygeal teratoma HP:0030736 A teratoma arising in the sacro-coccygeal region. https://orcid.org/0000-0002-0003-6754 A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. 2016-03-13T09:57:33Z UMLS:C4280795 human_phenotype HP:0030737 Altman type I sacrococcygeal teratoma HP:0030737 A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks. https://orcid.org/0000-0002-0736-9199 A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. 2016-03-13T09:57:33Z UMLS:C4280794 human_phenotype HP:0030738 Altman type II sacrococcygeal teratoma HP:0030738 A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component. https://orcid.org/0000-0002-0736-9199 A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. 2016-03-13T09:57:33Z UMLS:C4280793 human_phenotype HP:0030739 Altman type III sacrococcygeal teratoma HP:0030739 A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass. https://orcid.org/0000-0002-0736-9199 An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. 2016-03-13T10:09:33Z UMLS:C4280792 Right ventricular anomalous muscle bundle human_phenotype HP:0030740 The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529). Anomalous muscle bundle of the right ventricle HP:0030740 An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract. https://orcid.org/0000-0002-0003-6754 A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). 2016-03-13T10:23:06Z NCIT:C6438 UMLS:C1334682 Teratoma of the mediastinum human_phenotype HP:0030741 Mediastinal teratoma HP:0030741 A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs). https://orcid.org/0000-0002-0003-6754 NCIT:C6438 Mediastinal teratoma This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot. 2016-03-14T07:10:02Z SNOMEDCT_US:370483001 UMLS:C1299892 Mittendorf dot human_phenotype HP:0030742 Glial remnants posterior to lens HP:0030742 Persistence of a posterior remnant of the hyaloid artery located at the optic disc. 2016-03-14T07:10:02Z UMLS:C4280791 Bergmeister papilla human_phenotype HP:0030743 Glial remnants anterior to the optic disc HP:0030743 Persistence of a posterior remnant of the hyaloid artery located at the optic disc. https://orcid.org/0000-0002-0736-9199 A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. 2016-03-14T07:10:02Z UMLS:C4280790 human_phenotype HP:0030744 Hyaloid vascular remnant and retrolental mass HP:0030744 A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. https://orcid.org/0000-0002-0736-9199 Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. 2016-03-14T07:14:07Z SNOMEDCT_US:233990006 UMLS:C0398357 Aneurysm of the ductus arteriosus Congenital ductus arteriosus aneurysm Ductus arteriosus aneurysm human_phenotype HP:0030745 Ductus arteriosus aneurysm has been observed in patients with connective tissue disorders like Marfan and Ehlers-Danlos syndrome and in patients with chromosomal syndromes (e.g. Williams, Larsen, aneuploidies). Aneurysm is considered a severe form of dilatation. Dilatation of the ductus arteriosus HP:0030745 Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end. PMID:10898444 PMID:11788230 PMID:27433265 PMID:29656824 https://orcid.org/0000-0002-0003-6754 Bleeding into the ventricles of the brain. 2016-03-14T07:26:05Z SNOMEDCT_US:23276006 UMLS:C0240059 Intraventricular haemorrhage human_phenotype HP:0030746 Intraventricular hemorrhage HP:0030746 Bleeding into the ventricles of the brain. https://orcid.org/0000-0002-0003-6754 Intraventricular haemorrhage Intraventricular hemorrhage that occurs in a premature infant. 2016-03-14T07:26:05Z UMLS:C4280789 Preterm intraventricular haemorrhage human_phenotype HP:0030747 This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding. Preterm intraventricular hemorrhage HP:0030747 Intraventricular hemorrhage that occurs in a premature infant. https://orcid.org/0000-0002-0736-9199 Preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. 2016-03-14T07:26:05Z SNOMEDCT_US:276650005 UMLS:C0475737 Germinal matrix haemorrhage Germinal matrix hemorrhage Grade I preterm intraventricular haemorrhage human_phenotype HP:0030748 Grade I preterm intraventricular hemorrhage HP:0030748 Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove. PMID:25371784 https://orcid.org/0000-0002-0736-9199 Germinal matrix haemorrhage Grade I preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. 2016-03-14T07:26:05Z UMLS:C4280788 Grade II preterm intraventricular haemorrhage human_phenotype HP:0030749 Grade II preterm intraventricular hemorrhage HP:0030749 Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle. https://orcid.org/0000-0002-0003-6754 Grade II preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. 2016-03-14T07:26:05Z UMLS:C4280787 Grade III preterm intraventricular haemorrhage human_phenotype HP:0030750 Grade III preterm intraventricular hemorrhage HP:0030750 Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles. https://orcid.org/0000-0002-0003-6754 Grade III preterm intraventricular haemorrhage Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. 2016-03-14T07:26:05Z UMLS:C4280786 Grade IV preterm intraventricular haemorrhage human_phenotype HP:0030751 Grade IV preterm intraventricular hemorrhage HP:0030751 Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension. https://orcid.org/0000-0002-0003-6754 Grade IV preterm intraventricular haemorrhage A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. 2016-03-14T07:57:58Z SNOMEDCT_US:42758002 UMLS:C0155241 Timo cyst human_phenotype HP:0030752 Dacryocystocele HP:0030752 A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. PMID:19205594 https://orcid.org/0000-0002-0003-6754 Loss of one twin occurring after midgestation (17 weeks gestation). 2016-03-14T08:06:08Z UMLS:C4280785 Intrauterine foetal demise of one twin after midgestation human_phenotype Single-twin demise HP:0030753 Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality. Intrauterine fetal demise of one twin after midgestation HP:0030753 Loss of one twin occurring after midgestation (17 weeks gestation). HPO_CONTRIBUTOR:jdavis PMID:10732306 PMID:2187353 PMID:24361180 PMID:2704493 PMID:9699754 Intrauterine foetal demise of one twin after midgestation A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. 2016-03-14T08:17:19Z SNOMEDCT_US:17234001 UMLS:C0041915 human_phenotype HP:0030754 Allantoic cyst HP:0030754 A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly. PMID:24950576 PMID:26213613 https://orcid.org/0000-0002-0003-6754 A teratoma located in the craniofacial region. 2016-03-14T08:23:58Z NCIT:C3403 UMLS:C4280784 human_phenotype HP:0030755 Craniofacial teratoma HP:0030755 A teratoma located in the craniofacial region. https://orcid.org/0000-0002-0003-6754 Reddish, brown opalescent discoloration of teeth in normal light. 2016-03-16T20:04:50Z UMLS:C4280783 Red teeth human_phenotype HP:0030756 This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues. Erythrodontia HP:0030756 Reddish, brown opalescent discoloration of teeth in normal light. PMID:21731282 A pocket of pus located within a region of a tooth. 2016-03-16T20:19:39Z SNOMEDCT_US:299709002 UMLS:C0518988 Dental abscess Dentoalveolar abscess human_phenotype HP:0030757 Tooth abscess HP:0030757 A pocket of pus located within a region of a tooth. https://orcid.org/0000-0002-0736-9199 A tooth abscess that occurs at the tip of the root (apex) of a tooth. 2016-03-16T20:19:39Z UMLS:C4280782 human_phenotype HP:0030758 Periapical tooth abscess HP:0030758 An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. 2016-03-16T20:23:54Z UMLS:C4280781 Fat cell hypertrophy human_phenotype HP:0030759 Adipocyte hypertrophy HP:0030759 An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy. PMID:25148116 https://orcid.org/0000-0002-0736-9199 Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. 2016-03-16T20:32:26Z SNOMEDCT_US:197660000 UMLS:C0151650 Kidney fibrosis human_phenotype HP:0030760 Renal fibrosis HP:0030760 Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. PMID:16408108 https://orcid.org/0000-0002-0736-9199 HP:0000096 2016-03-16T20:32:26Z human_phenotype HP:0030761 obsolete Renal glomerular fibrosis true HP:0030761 Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. 2016-03-16T20:39:56Z UMLS:C4054531 human_phenotype HP:0030762 Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis. Mesangiolysis HP:0030762 Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain. PMID:32866505 PMID:6353041 https://orcid.org/0000-0002-0736-9199 A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. 2016-03-16T20:41:24Z UMLS:C4280779 Amniotic shelf human_phenotype HP:0030763 Amniotic Sheet HP:0030763 A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion. https://orcid.org/0000-0002-0003-6754 Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. 2016-03-17T06:27:31Z SNOMEDCT_US:410042009 UMLS:C0028817 Ochronotic arthritis human_phenotype HP:0030764 Ochronosis HP:0030764 Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. PMID:24447956 PMID:26929770 https://orcid.org/0000-0002-0736-9199 Autonomic arousal, screaming, sweating, crying, outbursts during sleep, usually no recollection at the individual level; typically observed by others. 2016-03-17T06:31:21Z SNOMEDCT_US:89675003 UMLS:C0037320 Night terror Pavor nocturnus Sleep terrors Waking up screaming human_phenotype HP:0030765 Sleep terrors are more common in children and are often observed by care-givers. Sleep terrors may occur in individuals who are sleepwalking. Sleep terror HP:0030765 Autonomic arousal, screaming, sweating, crying, outbursts during sleep, usually no recollection at the individual level; typically observed by others. PMID:31612833 Waking up screaming Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). 2016-03-17T06:35:50Z SNOMEDCT_US:16001004 SNOMEDCT_US:162356005 UMLS:C0013456 Ear pain Otalgia Pain in the ear human_phenotype HP:0030766 Ear pain HP:0030766 Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). PMID:20736106 Ear pain Pain in the ear Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. 2016-03-17T06:38:08Z SNOMEDCT_US:31248004 UMLS:C0266725 human_phenotype Palatine teratoma HP:0030767 Epignathus HP:0030767 Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate. PMID:19240824 https://orcid.org/0000-0002-0003-6754 A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. 2016-03-17T06:53:34Z SNOMEDCT_US:84461004 UMLS:C0266453 human_phenotype HP:0030769 Exencephaly HP:0030769 A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium. PMID:21887200 https://orcid.org/0000-0002-0003-6754 A neural tube defect in which both the brain and spinal cord remain open to varying degrees. 2016-03-17T06:56:17Z SNOMEDCT_US:32219008 UMLS:C0152426 human_phenotype HP:0030770 Craniorachischisis HP:0030770 A neural tube defect in which both the brain and spinal cord remain open to varying degrees. PMID:22095531 https://orcid.org/0000-0002-0003-6754 Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. 2016-03-17T07:04:05Z SNOMEDCT_US:64298006 UMLS:C0158473 human_phenotype HP:0030771 Mallet finger HP:0030771 Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. PMID:24839413 https://orcid.org/0000-0002-9353-549 Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. 2016-03-17T07:12:48Z SNOMEDCT_US:205211001 UMLS:C0431996 human_phenotype HP:0030772 Proximal femoral focal deficiency HP:0030772 Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb. PMID:21438051 PMID:23915863 https://orcid.org/0000-0002-0003-6754 An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. 2016-03-17T07:19:02Z SNOMEDCT_US:49823009 UMLS:C0152134 human_phenotype HP:0030773 Internuclear ophthalmoplegia HP:0030773 An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. PMID:1344079 PMID:21687160 PMID:25145891 https://orcid.org/0000-0002-0736-9199 The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. 2016-03-17T07:29:10Z SNOMEDCT_US:125429001 UMLS:C0026244 human_phenotype HP:0030774 Mitochondrial swelling HP:0030774 The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. PMID:22907871 https://orcid.org/0000-0002-0736-9199 An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. 2016-03-17T07:42:47Z UMLS:C4280778 human_phenotype HP:0030775 Modic type vertebral endplate changes HP:0030775 An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic. PMID:24162519 https://orcid.org/0000-0002-0736-9199 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. 2016-03-17T07:42:47Z UMLS:C4280777 Modic type 1 vertebral endplate changes human_phenotype HP:0030776 Modic type I vertebral endplate changes HP:0030776 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation. PMID:24162519 https://orcid.org/0000-0002-0736-9199 An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. 2016-03-17T07:42:47Z UMLS:C4280776 Modic type 2 vertebral endplate changes human_phenotype HP:0030777 Modic type II vertebral endplate changes HP:0030777 An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow. PMID:24162519 https://orcid.org/0000-0002-0736-9199 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. 2016-03-17T07:42:47Z UMLS:C4280775 Modic type 3 vertebral endplate changes human_phenotype HP:0030778 Modic type III vertebral endplate changes HP:0030778 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs. PMID:24162519 https://orcid.org/0000-0002-0736-9199 Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. 2016-03-17T21:52:18Z SNOMEDCT_US:55709000 UMLS:C0266680 human_phenotype HP:0030779 Ethmocephaly HP:0030779 Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. PMID:23248551 https://orcid.org/0000-0002-0003-6754 An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. 2016-03-17T22:14:10Z UMLS:C4280774 human_phenotype HP:0030780 Abnormality of the protein C anticoagulant pathway HP:0030780 An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC. PMID:12970121 PMID:15943976 https://orcid.org/0000-0002-0736-9199 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. 2016-03-17T22:20:59Z UMLS:C4280773 human_phenotype HP:0030781 Increased circulating free fatty acid level HP:0030781 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. https://orcid.org/0000-0002-0736-9199 HP:0011117 2016-03-17T22:29:40Z human_phenotype HP:0030782 obsolete Abnormal circulating interleukin concentration true HP:0030782 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. 2016-03-17T22:29:40Z UMLS:C4280771 Increased serum IL-6 Increased serum interleukin-6 human_phenotype HP:0030783 Increased circulating interleukin 6 concentration HP:0030783 The concentration of interleukin-6 in the blood circulation is above the upper limit of normal. PMID:9883970 https://orcid.org/0000-0002-0736-9199 Increased serum IL-6 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. 2016-03-29T09:20:38Z SNOMEDCT_US:10325006 UMLS:C0003113 Amnesic aphasia Amnestic aphasia Anomia Nominal aphasia Word-finding difficulty human_phenotype HP:0030784 Anomic aphasia HP:0030784 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. PMID:18348092 https://orcid.org/0000-0002-0736-9199 Word-finding difficulty A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. 2016-03-29T09:48:17Z UMLS:C4280770 Intrathoracic cystic hygroma Thoracic cystic lymphangioma human_phenotype HP:0030785 Mediastinal cystic lymphangioma HP:0030785 A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors. PMID:25821300 https://orcid.org/0000-0002-0003-6754 Perceived flashes of light. 2016-03-29T10:05:01Z SNOMEDCT_US:56170001 UMLS:C0085635 human_phenotype HP:0030786 Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment. Photopsia HP:0030786 Perceived flashes of light. PMID:10506812 https://orcid.org/0000-0002-0736-9199 Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. 2016-03-29T10:28:21Z UMLS:C4280769 human_phenotype HP:0030787 Cerumen abnormality HP:0030787 Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal. https://orcid.org/0000-0002-0736-9199 Blockage of the external auditory canal by a buildup of earwax. 2016-03-29T10:28:21Z SNOMEDCT_US:18070006 UMLS:C0021092 human_phenotype HP:0030788 Impacted cerumen HP:0030788 Blockage of the external auditory canal by a buildup of earwax. PMID:15256605 https://orcid.org/0000-0002-0736-9199 An increased quantity of earwax. 2016-03-29T10:28:21Z UMLS:C1382811 human_phenotype HP:0030789 This feature is not necessarily associated with impacted cerumen, which if present should be coded separately. Excessive cerumen HP:0030789 An increased quantity of earwax. PMID:probinson An anomalous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. 2016-03-29T10:28:21Z UMLS:C4280768 Abnormal cerumen color Abnormal cerumen pigmentation human_phenotype HP:0030790 Abnormal cerumen color HP:0030790 An anomalous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. 2016-03-30T06:45:22Z UMLS:C4280767 human_phenotype HP:0030791 Abnormal jaw morphology HP:0030791 A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. https://orcid.org/0000-0002-0736-9199 A tumor originating in the jaw (mandible or maxilla). 2016-03-30T06:45:22Z SNOMEDCT_US:126634001 UMLS:C0022364 human_phenotype HP:0030792 Jaw neoplasm HP:0030792 A tumor originating in the jaw (mandible or maxilla). https://orcid.org/0000-0002-0736-9199 Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). 2016-03-30T06:51:37Z UMLS:C4280766 human_phenotype HP:0030793 Jaw swelling HP:0030793 Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). https://orcid.org/0000-0002-0736-9199 Any deviation from the normal concentration of C-peptide in the blood circulation. 2016-03-30T07:14:14Z UMLS:C4280765 Abnormal C peptide level Abnormal C-peptide level Abnormal circulating C-peptide concentration human_phenotype HP:0030794 C-peptide links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. Abnormal circulating C-peptide concentration HP:0030794 The concentration of C-peptide in the blood circulation is below the lower limit of normal. 2016-03-30T07:14:14Z UMLS:C4280764 Decreased C-peptide concentration Decreased C-peptide level Decreased C-peptide level in blood Decreased circulating C-peptide concentration Reduced C peptide level Reduced C-peptide concentration Reduced C-peptide level Reduced C-peptide level in blood human_phenotype HP:0030795 Decreased circulating C-peptide concentration HP:0030795 The concentration of C-peptide in the blood circulation is above the upper limit of normal. 2016-03-30T07:14:14Z UMLS:C4280763 Elevated C-peptide concentration Elevated C-peptide level Elevated C-peptide level in blood Elevated circulating C-peptide concentration Increased C peptide level Increased C-peptide concentration Increased C-peptide level Increased C-peptide level in blood human_phenotype HP:0030796 C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. Elevated circulating C-peptide concentration HP:0030796 A diminished volume of the central part of the bed nucleus of the stria terminalis. 2016-04-09T12:59:28Z UMLS:C4280762 human_phenotype HP:0030797 This structure is larger in men than in females. Reduced volume of central subdivision of bed nucleus of stria terminalis HP:0030797 A diminished volume of the central part of the bed nucleus of the stria terminalis. PMID:7477289 https://orcid.org/0000-0002-0736-9199 The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. 2016-04-09T12:59:28Z UMLS:C4280761 human_phenotype HP:0030798 Abnormality of the bed nucleus of stria terminalis HP:0030798 The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus. PMID:12600711 https://orcid.org/0000-0002-0736-9199 Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. 2016-04-10T09:40:32Z SNOMEDCT_US:4191007 UMLS:C0265534 human_phenotype HP:0030799 Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241). Scaphocephaly HP:0030799 Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. PMID:16156241 PMID:23960302 https://orcid.org/0000-0002-0736-9199 An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. 2016-04-10T09:52:27Z UMLS:C4280760 human_phenotype HP:0030800 Abnormal visual accommodation HP:0030800 An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. https://orcid.org/0000-0002-0736-9199 A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. 2016-04-10T09:52:27Z UMLS:C4280759 human_phenotype HP:0030801 Reduced visual accommodation HP:0030801 A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances. https://orcid.org/0000-0002-0736-9199 Inferior malposition of the lower eyelid margin without eyelid eversion. 2016-04-10T10:13:12Z SNOMEDCT_US:700264006 UMLS:C1861656 human_phenotype HP:0030802 This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos. Lower eyelid retraction HP:0030802 Inferior malposition of the lower eyelid margin without eyelid eversion. PMID:10946945 https://orcid.org/0000-0002-0736-9199 Abnormal flat nail. 2016-04-11T21:29:21Z UMLS:C1853986 human_phenotype HP:0030803 Platonychia HP:0030803 Abnormal flat nail. https://orcid.org/0000-0002-0736-9199 Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. 2016-04-11T21:43:43Z SNOMEDCT_US:69192004 UMLS:C0546956 human_phenotype HP:0030804 The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps. Trachyonychia HP:0030804 Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. PMID:22016269 PMID:26273150 https://orcid.org/0000-0002-0736-9199 Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. 2016-04-11T21:52:52Z UMLS:C4280758 Absent lunulae Lunula absent Lunulae absent human_phenotype HP:0030805 Absent lunula HP:0030805 Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail. https://orcid.org/0000-0002-0736-9199 Absent lunulae Lunulae absent Nails whose growth is quicker than normal. 2016-04-11T21:54:54Z UMLS:C4280757 human_phenotype HP:0030806 Fast-growing nails HP:0030806 Nails whose growth is quicker than normal. https://orcid.org/0000-0002-0736-9199 Nail whose growth pattern or speed deviates from normal. 2016-04-11T21:54:54Z UMLS:C1610609 human_phenotype HP:0030807 Abnormal nail growth HP:0030807 Nail whose growth pattern or speed deviates from normal. https://orcid.org/0000-0002-0736-9199 The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. 2016-04-11T22:02:34Z UMLS:C4280756 human_phenotype HP:0030808 Ragged cuticle HP:0030808 The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle. https://orcid.org/0000-0002-0736-9199 Any structural anomaly of the tongue. 2016-04-11T22:56:11Z UMLS:C4280755 human_phenotype HP:0030809 Abnormal tongue morphology HP:0030809 Any functional anomaly of the tongue. 2016-04-11T22:56:11Z UMLS:C4280754 human_phenotype HP:0030810 Abnormal tongue physiology HP:0030810 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. 2016-04-11T22:56:11Z SNOMEDCT_US:30731004 UMLS:C0017672 Painful tongue human_phenotype HP:0030811 Tongue pain HP:0030811 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. https://orcid.org/0000-0002-0736-9199 Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. 2016-04-11T23:00:38Z SNOMEDCT_US:46689006 UMLS:C0272386 Enlargement of tonsils Tonsillar hypertrophy tonsils large/hypertrophy human_phenotype HP:0030812 Enlarged tonsils HP:0030812 Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. https://orcid.org/0000-0002-0736-9199 Lack of observable tonsillar tissue. 2016-04-11T23:03:13Z SNOMEDCT_US:249393008 SNOMEDCT_US:300277007 UMLS:C0576999 Hypoplastic tonsils Tonsillar hypoplasia human_phenotype HP:0030813 Absent tonsils HP:0030813 Lack of observable tonsillar tissue. https://orcid.org/0000-0002-0736-9199 A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. 2016-04-11T23:08:05Z UMLS:C4280753 Orange colored tonsils Orange coloured tonsils Orange discoloured tonsils Orange tonsils Tonsils with orange deposits human_phenotype HP:0030814 Orange discolored tonsils HP:0030814 A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. PMID:19470903 https://orcid.org/0000-0002-0736-9199 Orange coloured tonsils Orange discoloured tonsils A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. 2016-04-11T23:42:34Z UMLS:C0238467 Tongue lipoma human_phenotype HP:0030815 Lipoma of the tongue HP:0030815 A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue. https://orcid.org/0000-0002-0736-9199 The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. 2016-04-12T08:57:31Z SNOMEDCT_US:4356008 UMLS:C0017572 Gum recession Receding gums human_phenotype HP:0030816 Gingival recession HP:0030816 Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. 2016-04-12T09:02:58Z UMLS:C4280752 human_phenotype HP:0030817 Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis. Beaked nails HP:0030817 Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit. https://orcid.org/0000-0002-0736-9199 The presence of a depressed line (canal) in the center of the nail. 2016-04-12T09:10:30Z SNOMEDCT_US:238718006 SNOMEDCT_US:86393005 UMLS:C0263526 Median nail dystrophy human_phenotype HP:0030818 Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease. Central nail canal HP:0030818 Nails that slope upward at the free edge. 2016-04-12T09:10:30Z UMLS:C4280751 Upslanting nail Upward angulation of nail human_phenotype HP:0030819 Ski jump nail HP:0030819 Nails that slope upward at the free edge. https://orcid.org/0000-0002-0736-9199 Eyelid partly covered by skin when eyes are open. 2016-04-12T09:15:46Z UMLS:C3277348 human_phenotype HP:0030820 Hooded eyelid HP:0030820 Eyelid partly covered by skin when eyes are open. https://orcid.org/0000-0002-0736-9199 Lower eyelid partly covered by skin when eyes are open. 2016-04-12T09:15:46Z UMLS:C4280750 human_phenotype HP:0030821 Hooded lower eyelid HP:0030821 Upper eyelid partly covered by skin when eyes are open. 2016-04-12T09:15:46Z UMLS:C4280749 human_phenotype HP:0030822 Hooded upper eyelid HP:0030822 Increased dimension of the sclera in the anterior-posterior axis. 2016-04-12T09:21:04Z UMLS:C2674403 Thick sclera human_phenotype HP:0030823 Scleral thickening HP:0030823 Increased dimension of the sclera in the anterior-posterior axis. https://orcid.org/0000-0002-0736-9199 Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. 2016-04-15T21:19:23Z UMLS:C4280748 Mizuo-Nakamura phenomenon human_phenotype HP:0030824 Mizuo phenomenon HP:0030824 Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. https://orcid.org/0000-0002-0736-9199 Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. 2016-04-15T21:29:14Z SNOMEDCT_US:247144003 UMLS:C0423420 Foveal reflex absent Loss of foveal reflex human_phenotype HP:0030825 Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals. Absent foveal reflex HP:0030825 Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. PMID:27491360 https://orcid.org/0000-0002-0736-9199 Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. 2016-04-15T21:44:51Z UMLS:C4280682 Eyelid fluttering Fasciculation of the eyelid Muscle twitches in eye lid Muscle twitches in eyelid Twitching around eyes human_phenotype HP:0030826 Eyelid fasciculation HP:0030826 Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching. https://orcid.org/0000-0002-0736-9199 Muscle twitches in eye lid Muscle twitches in eyelid Twitching around eyes A high-pitched whistling sound associated with labored breathing. 2016-05-09T07:51:16Z SNOMEDCT_US:56018004 UMLS:C0043144 Wheezing human_phenotype HP:0030828 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less Wheezing HP:0030828 A high-pitched whistling sound associated with labored breathing. PMID:26229557 https://orcid.org/0000-0002-0736-9199 Wheezing An anomalous (adventitious) sound produced by the breathing process. 2016-05-09T07:56:43Z SNOMEDCT_US:301273002 UMLS:C0231856 Abnormal lung auscultation finding human_phenotype HP:0030829 Abnormal breath sound HP:0030829 An anomalous (adventitious) sound produced by the breathing process. https://orcid.org/0000-0002-0736-9199 Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. 2016-05-09T07:56:43Z SNOMEDCT_US:48409008 UMLS:C0034642 Crepitations Rales human_phenotype HP:0030830 Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions. Crackles HP:0030830 Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. PMID:26229557 https://orcid.org/0000-0002-0003-6754 Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. 2016-05-09T07:58:05Z SNOMEDCT_US:24612001 UMLS:C0035508 human_phenotype HP:0030831 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less. Rhonchi HP:0030831 Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds. PMID:26229557 https://orcid.org/0000-0002-0003-6754 Fiber- or rope-like opacities located within the vitreous humor. 2016-05-15T08:48:35Z SNOMEDCT_US:28167005 UMLS:C0271408 human_phenotype HP:0030832 Vitreous strands HP:0030832 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. 2016-05-17T07:00:44Z SNOMEDCT_US:81680005 UMLS:C0007859 Neck pain human_phenotype HP:0030833 Neck pain HP:0030833 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. https://orcid.org/0000-0002-0003-6754 Neck pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. 2016-05-17T07:00:44Z SNOMEDCT_US:45326000 UMLS:C0037011 Shoulder pain human_phenotype HP:0030834 Shoulder pain HP:0030834 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. https://orcid.org/0000-0002-0003-6754 Shoulder pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. 2016-05-17T07:00:44Z SNOMEDCT_US:74323005 UMLS:C0239266 Elbow pain human_phenotype HP:0030835 Elbow pain HP:0030835 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow. https://orcid.org/0000-0002-0003-6754 Elbow pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. 2016-05-17T07:00:44Z SNOMEDCT_US:202482009 SNOMEDCT_US:56608008 UMLS:C0221785 Wrist pain human_phenotype HP:0030836 Wrist pain HP:0030836 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. https://orcid.org/0000-0002-0003-6754 Wrist pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. 2016-05-17T07:00:44Z SNOMEDCT_US:18876004 UMLS:C0239589 Finger pain human_phenotype HP:0030837 Finger pain HP:0030837 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger. https://orcid.org/0000-0002-0003-6754 Finger pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. 2016-05-17T07:00:44Z SNOMEDCT_US:49218002 UMLS:C0019559 Hip pain human_phenotype HP:0030838 Hip pain HP:0030838 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. https://orcid.org/0000-0002-0003-6754 Hip pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. 2016-05-17T07:00:44Z Pain under knee cap SNOMEDCT_US:30989003 UMLS:C0231749 Knee pain human_phenotype HP:0030839 Knee pain HP:0030839 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. https://orcid.org/0000-0002-0003-6754 Pain under knee cap Knee pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. 2016-05-17T07:00:44Z SNOMEDCT_US:202490009 SNOMEDCT_US:247373008 UMLS:C0238656 Ankle pain human_phenotype HP:0030840 Ankle pain HP:0030840 Ankle pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. 2016-05-17T07:00:44Z SNOMEDCT_US:285365001 UMLS:C0241416 Toe pain human_phenotype HP:0030841 Toe pain HP:0030841 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe. https://orcid.org/0000-0002-0003-6754 Toe pain Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. 2016-05-17T07:12:08Z UMLS:C4280747 human_phenotype HP:0030842 Choking episodes HP:0030842 Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. https://orcid.org/0000-0002-0736-9199 Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. 2016-05-17T07:19:06Z HP:0200126 SNOMEDCT_US:16573007 UMLS:C0268407 Amyloid cardiomyopathy human_phenotype HP:0030843 The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis. Cardiac amyloidosis HP:0030843 Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. PMID:16186440 https://orcid.org/0000-0002-0736-9199 Absent response to a pattern electroretinogram (PERG). 2016-05-17T07:32:24Z UMLS:C4280746 human_phenotype HP:0030844 Undetectable pattern electroretinogram HP:0030844 Absent response to a pattern electroretinogram (PERG). https://orcid.org/0000-0002-0736-9199 Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. 2016-05-17T07:36:28Z UMLS:C4280745 human_phenotype HP:0030845 Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral. Heliotrope rash of eyelid HP:0030845 Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema. PMID:12786876 PMID:25587479 https://orcid.org/0000-0002-0736-9199 An anomaly of venous function. 2016-05-17T07:58:17Z UMLS:C4280744 human_phenotype HP:0030846 Abnormality of venous physiology HP:0030846 An anomaly of venous function. https://orcid.org/0000-0002-0736-9199 An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. 2016-05-17T07:58:17Z SNOMEDCT_US:62436006 UMLS:C0520860 human_phenotype HP:0030847 Abnormal jugular venous pressure HP:0030847 An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure. PMID:24085809 https://orcid.org/0000-0002-0736-9199 Increased jugular venous pressure. 2016-05-17T07:58:17Z SNOMEDCT_US:22447003 UMLS:C0520861 human_phenotype HP:0030848 Elevated jugular venous pressure HP:0030848 The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. 2016-05-17T07:58:17Z SNOMEDCT_US:72196001 UMLS:C0239949 human_phenotype HP:0030849 Hepatojugular reflux HP:0030849 The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux. PMID:24085809 https://orcid.org/0000-0002-0736-9199 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. 2016-05-17T07:58:17Z UMLS:C0855322 human_phenotype HP:0030850 Abnormal pulse pressure HP:0030850 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. https://orcid.org/0000-0002-0736-9199 Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). 2016-05-17T07:58:17Z UMLS:C4280743 human_phenotype HP:0030851 Low pulse pressure HP:0030851 Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). https://orcid.org/0000-0002-0736-9199 Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). 2016-05-17T07:58:17Z UMLS:C0855323 human_phenotype HP:0030852 High pulse pressure HP:0030852 Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). https://orcid.org/0000-0002-0736-9199 An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. 2016-05-17T08:04:42Z Fyler:0190 Fyler:190 SNOMEDCT_US:14821001 SNOMEDCT_US:24614000 UMLS:C0266642 Heterotaxia human_phenotype HP:0030853 In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart. Heterotaxy HP:0030853 An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. PMID:21731561 https://orcid.org/0000-0002-0736-9199 A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. 2016-05-25T07:47:12Z SNOMEDCT_US:111534007 UMLS:C0155359 Staphyloma human_phenotype HP:0030854 Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis. Scleral staphyloma HP:0030854 A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. PMID:22454726 https://orcid.org/0000-0002-0736-9199 A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. 2016-05-25T07:47:12Z SNOMEDCT_US:231888000 UMLS:C0339206 human_phenotype HP:0030855 Anterior staphyloma HP:0030855 A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. PMID:24600153 https://orcid.org/0000-0002-0736-9199 A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. 2016-05-25T07:47:12Z SNOMEDCT_US:87819007 UMLS:C0155360 human_phenotype HP:0030856 Posterior staphyloma HP:0030856 A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. PMID:25376120 https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. 2016-05-25T07:58:19Z UMLS:C4280742 human_phenotype HP:0030857 Eye movement-induced pain HP:0030857 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. PMID:12928305 https://orcid.org/0000-0002-0736-9199 When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything. 2016-05-30T06:39:38Z SNOMEDCT_US:32709003 UMLS:C0085281 Addictive behaviour human_phenotype HP:0030858 Several behaviors, besides ingesting psychoactive substances, produce short-term rewards that may lead to persistent behavior despite knowledge of adverse consequences, such as diminished control over the behavior. Addictive behavior HP:0030858 Addictive behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. 2016-06-11T10:09:48Z UMLS:C4280741 Anti-Scl-70 antibody positivity Top1 antibody positivity Topoisomerase (DNA) I antibody positivity human_phenotype HP:0030859 Anti-topoisomerase I antibodies are classically associated with interstitial lung disease (ILD) and the diffuse cutaneous form of systemic sclerosis. Anti-topoisomerase I antibody positivity HP:0030859 The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I. PMID:16112028 PMID:31858335 https://orcid.org/0000-0003-0113-912X Abnormal concentration of amyloid in the cerebrospinal fluid (CSF). 2016-06-11T10:29:18Z UMLS:C4280740 Abnormal CSF A[beta]42 level Abnormal CSF amyloid level human_phenotype HP:0030860 In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42. Abnormal CSF amyloid concentration HP:0030860 Abnormal CSF A[beta]42 level Reduced concentration of amyloid in the cerebrospinal fluid (CSF). 2016-06-11T10:29:18Z UMLS:C4280739 Decreased CSF amyloid level human_phenotype HP:0030861 Decreased CSF amyloid concentration HP:0030861 Increased concentration of amyloid in the cerebrospinal fluid (CSF). 2016-06-11T10:29:18Z UMLS:C4280738 Elevated CSF amyloid level human_phenotype HP:0030862 Elevated CSF amyloid concentration HP:0030862 Widening of the nostrils upon inhalation as a manifestation of respiratory distress. 2016-06-11T10:46:31Z SNOMEDCT_US:21558008 SNOMEDCT_US:248568003 UMLS:C0277873 human_phenotype HP:0030863 Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing. Nasal flaring HP:0030863 Widening of the nostrils upon inhalation as a manifestation of respiratory distress. PMID:25274969 https://orcid.org/0000-0002-0003-6754 A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. 2016-06-11T10:46:31Z SNOMEDCT_US:6442005 UMLS:C0425470 Chest retractions human_phenotype HP:0030864 Intercostal retractions HP:0030864 A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress. PMID:25274969 Abnormal increased size of the elbow joint. 2016-06-11T22:18:53Z UMLS:C4280737 Prominent elbow human_phenotype HP:0030865 Large elbow HP:0030865 Abnormal increased size of the elbow joint. https://orcid.org/0000-0002-0736-9199 Abnormally increased size of the knee joint. 2016-06-11T22:18:53Z UMLS:C4280736 human_phenotype HP:0030866 Large knee HP:0030866 Abnormally increased size of the knee joint. https://orcid.org/0000-0002-0736-9199 The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. 2016-06-11T22:23:48Z SNOMEDCT_US:253243008 UMLS:C0431460 Eyes at different heights Misaligned eyes Unequal eye height human_phenotype HP:0030867 Vertical orbital dystopia HP:0030867 The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other. PMID:7795293 https://orcid.org/0000-0002-0736-9199 Eyes at different heights Misaligned eyes Unequal eye height Having only one testis in the scrotum. 2016-06-18T16:27:06Z SNOMEDCT_US:87310001 UMLS:C0266429 Monorchidism human_phenotype HP:0030868 Monorchism HP:0030868 Having only one testis in the scrotum. https://orcid.org/0000-0002-0736-9199 An abnormality of XY sexual development characterized by the absence of both testes at birth. 2016-06-18T16:27:06Z SNOMEDCT_US:371015003 UMLS:C1261504 human_phenotype HP:0030869 Anorchism HP:0030869 An abnormality of XY sexual development characterized by the absence of both testes at birth. https://orcid.org/0000-0002-0736-9199 An anomaly of the small joints located between and behind adjacent vertebrae. 2016-06-26T10:40:51Z UMLS:C4280735 Abnormality of Z-joint Abnormality of apophyseal joint Abnormality of zygapophyseal joint Abnormality of zygapophysial joint human_phenotype HP:0030870 The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment. Abnormality of spinal facet joint HP:0030870 An anomaly of the small joints located between and behind adjacent vertebrae. https://orcid.org/0000-0002-0736-9199 Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. 2016-06-26T10:40:51Z UMLS:C4280734 Facet arthritis human_phenotype HP:0030871 Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disk disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disk disease are both common causes of back and neck pain. Facet joint arthrosis HP:0030871 Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray. https://orcid.org/0000-0002-0736-9199 An abnormality of the cardiac ventricular function. 2016-06-28T07:54:16Z UMLS:C4280733 human_phenotype HP:0030872 Abnormal cardiac ventricular function HP:0030872 An abnormality of the cardiac ventricular function. https://orcid.org/0000-0003-4546-6667 The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. 2016-06-29T06:59:57Z UMLS:C4280732 ACA positivity Anticentromere antibody positivity human_phenotype HP:0030873 Anti-centromere antibodies are typically associated with pulmonary arterial hypertension and the limited cutaneous form of systemic sclerosis. Anti-centromere antibody positivity HP:0030873 The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components. PMID:17444587 PMID:31858335 https://orcid.org/0000-0003-0113-912X Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. 2016-06-29T07:07:38Z UMLS:C4280731 O2 desaturation on exertion human_phenotype HP:0030874 Oxygen desaturation on exertion HP:0030874 Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. PMID:24121092 https://orcid.org/0000-0003-4546-6667 O2 desaturation on exertion A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. 2016-07-01T08:34:54Z UMLS:C4280730 Abnormal pulmonary circulation Abnormality of respiratory circulation human_phenotype HP:0030875 Abnormality of pulmonary circulation HP:0030875 A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. https://orcid.org/0000-0002-0736-9199 Pulmonary capillary wedge pressure (PCWP) above 15mmHg. 2016-07-01T08:34:54Z SNOMEDCT_US:30261008 UMLS:C0520850 Increased pulmonary arterial wedge pressure Increased pulmonary artery occlusion pressure human_phenotype HP:0030876 The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch. Increased pulmonary capillary wedge pressure HP:0030876 Pulmonary capillary wedge pressure (PCWP) above 15mmHg. https://orcid.org/0000-0003-4546-6667 Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). 2016-07-02T07:08:44Z UMLS:C4280729 Obstructive deficit on pulmonary function test Obstructive deficit on pulmonary function testing human_phenotype HP:0030877 A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). Reduced FEV1/FVC ratio HP:0030877 Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). PMID:22347750 PMID:24695507 https://orcid.org/0000-0003-4546-6667 Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. 2016-07-02T07:08:44Z HP:0032340 UMLS:C4280728 Abnormal pulmonary function test human_phenotype Abnormal spirometry test HP:0030878 Abnormality on pulmonary function testing HP:0030878 Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. PMID:22347750 PMID:24695507 https://orcid.org/0000-0002-0736-9199 Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. 2016-07-02T07:21:51Z Interlobular lines (pulmonary CT finding) Peripheral lines (pulmonary CT finding) Septal lines (pulmonary CT finding) Septal thickening (pulmonary CT finding) Short lines (pumonary CT finding) Interlobular septal thickening on pulmonary HRCT human_phenotype HP:0030879 Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tissue and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickening of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. Interlobular septal thickening HP:0030879 Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. PMID:23247773 https://orcid.org/0000-0003-4546-6667 2016-07-02T07:28:28Z SNOMEDCT_US:266261006 UMLS:C0034735 Raynaud's phenomenon human_phenotype Raynaud disease HP:0030880 Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. Raynaud phenomenon HP:0030880 Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes. https://orcid.org/0000-0003-4546-6667 Trapping and compression of the rotator cuff tendons during shoulder movements. 2016-07-02T07:56:13Z UMLS:C1655733 human_phenotype HP:0030881 Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis). Shoulder impingement HP:0030881 Trapping and compression of the rotator cuff tendons during shoulder movements. https://orcid.org/0000-0002-0736-9199 Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. 2016-07-02T08:29:24Z Coronary arterial dilatation Coronary artery ectasia Fyler:3129 UMLS:C4255100 Coronary artery dilatation human_phenotype HP:0030882 Coronary artery aneurysm HP:0030882 Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. PMID:28374180 https://orcid.org/0000-0002-0736-9199 Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. 2016-07-02T08:33:27Z SNOMEDCT_US:432473000 UMLS:C2936290 Femoral acetabular impingement human_phenotype HP:0030883 Femoroacetabular impingement HP:0030883 Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. PMID:22108232 Feeding problem necessitating gastrojejunal tube feeding. 2016-07-02T08:46:47Z UMLS:C4280681 Gastro-jejunal tube feeding in infancy human_phenotype HP:0030884 The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed. Gastrojejunal tube feeding in infancy HP:0030884 Feeding problem necessitating gastrojejunal tube feeding. PMID:11827911 Increased susceptibility to parasitic infections as manifested by recurrent episodes of parasitic infection. 2016-07-02T08:48:51Z UMLS:C4280726 human_phenotype HP:0030885 Recurrent parasitic infections HP:0030885 Increased susceptibility to parasitic infections as manifested by recurrent episodes of parasitic infection. https://orcid.org/0000-0002-0736-9199 Abnormal apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. 2016-07-03T09:59:22Z UMLS:C4280725 human_phenotype HP:0030886 Abnormal T cell apoptosis HP:0030886 Abnormal apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. PMID:17562483 https://orcid.org/0000-0002-0736-9199 Abnormal increase of apoptosis by peripheral blood T cells in an in vitro culture, compared to a healthy control sample. May be either spontaneous, induced by UV, X-ray, FasL or other agens. Commonly measured by surface expression of phosphatidyl serine labelled by Annexin V, but other methods such as staning of cleaved Caspases may be used by different laboratories. 2016-07-03T09:59:22Z UMLS:C4280724 human_phenotype HP:0030887 Increased T cell apoptosis HP:0030887 The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb). 2016-07-11T08:04:04Z human_phenotype HP:0030888 C3 nephritic factor positivity HP:0030888 Substantially shortened length of the small intestine as a result of a developmental defect. 2016-07-12T08:06:56Z human_phenotype Short bowel HP:0030889 The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS. Congenital shortened small intestine HP:0030889 Substantially shortened length of the small intestine as a result of a developmental defect. PMID:18209785 A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. 2016-07-12T08:19:07Z White matter hyperintensity human_phenotype HP:0030890 Hyperintensity of cerebral white matter on MRI HP:0030890 A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. PMID:15576652 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. 2016-07-12T08:19:07Z PVWMH human_phenotype HP:0030891 See also definition for "Deep cerebral white matter hyperintensities". These two entities are in contra-distinction to each other. Periventricular white matter hyperintensities HP:0030891 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. PMID:15576652 PVWMH Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. 2016-07-12T08:19:07Z DWMH human_phenotype HP:0030892 See also definition for "Periventricular white matter hyperintensities". These two entities are in contra-distinction to each other. Deep cerebral white matter hyperintensities HP:0030892 Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. PMID:15576652 DWMH Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. 2016-07-13T08:17:14Z human_phenotype HP:0030893 Abnormal response to short acting pulmonary vasodilator HP:0030893 Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg. PMID:20004088 https://orcid.org/0000-0003-4546-6667 No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. 2016-07-13T08:17:14Z human_phenotype HP:0030894 Insufficient response to short acting pulmonary vasodilator HP:0030894 No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. https://orcid.org/0000-0003-4546-6667 An anomaly of the muscular contractions that propel food though the gastrointestinal tract. 2016-07-13T08:39:38Z Abnormal GI motility human_phenotype HP:0030895 Abnormal gastrointestinal motility HP:0030895 An anomaly of the muscular contractions that propel food though the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 Abnormal GI motility A deviation from the normal amount of time required for food to pass through the intestines. 2016-07-13T08:39:38Z Abnormal GI transit time human_phenotype HP:0030896 Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit Abnormal gastrointestinal transit time HP:0030896 A deviation from the normal amount of time required for food to pass through the intestines. PMID:22206545 Abnormal GI transit time A reduction in the length of time required for food to pass through the intestines. 2016-07-13T08:39:38Z human_phenotype HP:0030897 Decreased intestinal transit time HP:0030897 A reduction in the length of time required for food to pass through the intestines. PMID:22206545 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen. 2016-07-15T06:54:46Z human_phenotype HP:0030898 Pruritis on abdomen HP:0030898 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand. 2016-07-15T06:56:13Z human_phenotype HP:0030899 Pruritis on hand HP:0030899 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. 2016-07-15T06:57:09Z Itchy feet Itchy foot human_phenotype HP:0030900 Pruritus on foot HP:0030900 Itchy feet Itchy foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast. 2016-07-15T06:58:00Z human_phenotype HP:0030901 Pruritis on breast HP:0030901 A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. 2016-07-15T07:37:50Z human_phenotype HP:0030902 The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage. Palmomental reflex HP:0030902 A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. PMID:12122165 PMID:21250236 https://orcid.org/0000-0002-0736-9199 A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. 2016-07-15T07:37:50Z Palmar grasp reflex human_phenotype HP:0030903 Grasp reflex HP:0030903 A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. PMID:12700289 https://orcid.org/0000-0002-0736-9199 A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. 2016-07-15T07:37:50Z human_phenotype Myerson's sign HP:0030904 Glabellar reflex HP:0030904 A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. https://orcid.org/0000-0002-0736-9199 A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. 2016-07-15T07:37:50Z human_phenotype HP:0030905 Snout reflex HP:0030905 A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout. PMID:21250236 A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. 2016-07-15T07:37:50Z Persistent nutritive suckle swallow human_phenotype HP:0030906 Suck reflex HP:0030906 A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. PMID:21250236 Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days. 2016-07-19T07:04:05Z human_phenotype HP:0030907 The differential diagnosis of thunderclap headache (TCH) includes subarachnoid hemorrhage, ischemic stroke, cerebral venous thrombosis, cervical arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma. Thunderclap headache HP:0030907 The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). 2016-07-19T08:09:20Z HP:0034113 Anti-LKM-1 positive Anti-LKM1 antibody positivity Anti-liver kidney microsomal type 1 antibody positivity Anti-type I liver-kidney microsomal antibody positivity human_phenotype HP:0030908 LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate. Liver kidney microsome type 1 antibody positivity HP:0030908 The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2). PMID:29554146 Anti-LKM-1 positive Anti-LKM1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. 2016-07-19T08:16:21Z Anti-liver cytosol antibody-1 positivity human_phenotype HP:0030909 These autoantibodies may be observed in a subset of persons with autoimmune hepatitis. Anti-liver cytosolic antigen type 1 antibody positivity HP:0030909 The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. PMID:7806169 Two clitorides located side by side. 2016-07-25T06:27:25Z human_phenotype HP:0030911 The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately. Bifid clitoris HP:0030911 Two clitorides located side by side. PMID:23650202 Supernumerary clitoris. 2016-07-25T06:27:25Z human_phenotype HP:0030912 The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris. Duplicated clitoris HP:0030912 Marked rugae formation of the skin of the labia majora. 2016-07-25T06:27:25Z Scrotum-like labia majora human_phenotype HP:0030913 Some rugae formation is typically found on the labia majora, but less than on the scrotum. Exaggerated rugosity of the labia majora HP:0030913 Marked rugae formation of the skin of the labia majora. PMID:23650202 An anomaly of the wave-like muscle contractions of the digestive tract. 2016-07-25T07:22:20Z human_phenotype HP:0030914 Abnormal peristalsis HP:0030914 An anomaly of the wave-like muscle contractions of the digestive tract. https://orcid.org/0000-0002-0736-9199 Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. 2017-03-15T04:16:47Z Cerebellar edema Edema of the cerebellum Oedema of the cerebellum human_phenotype HP:0030915 Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion. Cerebellar edema HP:0030915 2016-11-07T18:06:20Z human_phenotype HP:0030917 The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment. Low APGAR score HP:0030917 2016-11-07T18:06:34Z Low one-minute APGAR score human_phenotype HP:0030918 A normal APGAR score can be coded as 'not Low 1-minute APGAR score'. Low 1-minute APGAR score HP:0030918 2016-11-07T18:06:42Z Low five-minute APGAR score human_phenotype HP:0030919 A normal APGAR score can be coded as 'not Low 5-minute APGAR score'. Low 5-minute APGAR score HP:0030919 2016-11-07T18:14:18Z human_phenotype HP:0030920 5-minute APGAR score of 0 HP:0030920 2016-11-07T18:14:24Z human_phenotype HP:0030921 5-minute APGAR score of 1 HP:0030921 2016-11-07T18:14:30Z human_phenotype HP:0030922 5-minute APGAR score of 2 HP:0030922 2016-11-07T18:14:36Z human_phenotype HP:0030923 5-minute APGAR score of 3 HP:0030923 2016-11-07T18:14:43Z human_phenotype HP:0030924 5-minute APGAR score of 4 HP:0030924 2016-11-07T18:14:57Z human_phenotype HP:0030925 5-minute APGAR score of 5 HP:0030925 2016-11-07T18:15:03Z human_phenotype HP:0030926 5-minute APGAR score of 6 HP:0030926 2016-11-07T18:16:10Z human_phenotype HP:0030927 1-minute APGAR score of 0 HP:0030927 2016-11-07T18:16:15Z human_phenotype HP:0030928 1-minute APGAR score of 1 HP:0030928 2016-11-07T18:16:20Z human_phenotype HP:0030929 1-minute APGAR score of 2 HP:0030929 2016-11-07T18:16:25Z human_phenotype HP:0030930 1-minute APGAR score of 3 HP:0030930 2016-11-07T18:16:29Z human_phenotype HP:0030931 1-minute APGAR score of 4 HP:0030931 2016-11-07T18:16:35Z human_phenotype HP:0030932 1-minute APGAR score of 5 HP:0030932 2016-11-07T18:16:41Z human_phenotype HP:0030933 1-minute APGAR score of 6 HP:0030933 A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed. 2016-11-07T18:48:22Z Oral erythroplasia human_phenotype HP:0030934 Oral erythroplakia may be related to local irritants and infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic. Oral erythroplakia HP:0030934 A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine. 2016-12-02T15:17:33Z Abnormality of intestinal smooth muscle morphology human_phenotype HP:0030935 Abnormal intestinal smooth muscle morphology HP:0030935 Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. 2016-12-02T15:21:06Z Muscularis propria malformation Segmental additional circular muscle coat human_phenotype HP:0030936 The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers. Abnormal layering of muscularis propria HP:0030936 Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer. PMID:18788889 PMID:26078585 The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process. 2016-12-02T21:21:03Z human_phenotype HP:0030937 Fibrotic muscularis propria HP:0030937 Aggregates of stainable substances (proteins) in the nuclei of enteric neurons. 2016-12-05T13:25:36Z human_phenotype HP:0030938 Enteric intraneuronal nuclear inclusion bodies HP:0030938 An increased thickness of the eyelid not related to acute inflammation. 2016-12-05T13:46:21Z Eyelid thickening Thick eyelids Thickened but nonswollen eyelids Thickened eyelid human_phenotype HP:0030939 Palpebral thickening HP:0030939 Pain in the vulvar area 2016-12-14T13:34:48Z Vulvar pain human_phenotype HP:0030943 Vulvodynia HP:0030943 Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells. 2017-01-13T20:21:47Z Bumps under the upper eyelid Tarsal papillae human_phenotype HP:0030946 Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease. Conjunctival papillae HP:0030946 Bumps under the upper eyelid Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells. 2017-01-13T20:23:46Z human_phenotype HP:0030947 The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base. Conjunctival follicles HP:0030947 Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. 2017-01-13T21:20:27Z Elevated serum GGT human_phenotype HP:0030948 Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure. Elevated gamma-glutamyltransferase level HP:0030948 Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. PMID:26543300 Elevated serum GGT An abnormal accumulation of protein in the glomerulus. 2017-01-13T21:44:36Z human_phenotype HP:0030949 Glomerular deposits HP:0030949 An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. 2017-01-13T21:56:41Z human_phenotype HP:0030950 Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue. Pulmonary venous hypertension HP:0030950 Excessive formation of fibrous bands of scar tissue in between muscle fibers. 2017-01-13T22:27:25Z Muscle biopsy: fibrosis human_phenotype HP:0030951 Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies. Skeletal muscle fibrosis HP:0030951 Excessive formation of fibrous bands of scar tissue in between muscle fibers. PMID:21798099 Multiple cream-yellow colored hypopigmented lesions typically located at the level of the outer choroid. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus. 2017-01-13T22:33:03Z Birdshot choroidal lesions Birdshot laesions Birdshot lesions Birdshot retinochoroidopathy human_phenotype HP:0030952 Birdshot choroidal lesions are associated with Birdshot retinochoroidopathy. Birdshot choroidal lesions HP:0030952 Multiple cream-yellow colored hypopigmented lesions typically located at the level of the outer choroid. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus. PMID:25667738 PMID:33845003 https://orcid.org/0000-0001-9114-8737 Birdshot laesions Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. 2017-01-13T22:41:03Z Conjunctival hyperaemia Conjunctival injection Conjunctival vascular congestion human_phenotype HP:0030953 Conjunctival hyperemia HP:0030953 Conjunctival hyperaemia An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. 2017-01-13T22:59:58Z Alcohol addiction Alcoholism human_phenotype HP:0030955 Addictive alcohol use HP:0030955 An anomaly of the electrical conduction physiology of the heart. 2017-03-17T17:47:04Z human_phenotype HP:0030956 Abnormality of cardiovascular system electrophysiology HP:0030956 A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion. 2017-03-17T20:01:17Z Ventricular septal dilatation human_phenotype HP:0030957 Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common. Ventricular septal aneurysm HP:0030957 Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). 2017-03-17T20:04:30Z Fyler:2346 Interventricular septum membranous part aneurysm Aneurysm of the membranous ventricular septum human_phenotype HP:0030958 The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium. Membranous ventricular septal aneurysm HP:0030958 Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). PMID:5846101 PMID:6018320 Interventricular septum membranous part aneurysm https://orcid.org/0000-0001-5208-3432 Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). 2017-03-17T20:22:16Z Aneurysm of the muscular ventricular septum human_phenotype HP:0030959 Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part. Muscular ventricular septal aneurysm HP:0030959 Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle). PMID:5846101 HP:0000615 2017-04-18T08:56:27Z human_phenotype HP:0030960 obsolete Abnormal pupillary morphology true HP:0030960 Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. 2017-04-18T12:55:01Z human_phenotype HP:0030961 Microspherophakia HP:0030961 Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses. PMID:35015420 A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. 2017-04-18T13:00:44Z human_phenotype HP:0030962 Abnormal morphology of the great vessels HP:0030962 HP:0001679 2017-04-18T09:46:41Z human_phenotype HP:0030963 obsolete Abnormal aortic morphology true HP:0030963 2017-04-18T13:14:14Z human_phenotype HP:0030964 Abnormal aortic physiology HP:0030964 The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. 2017-04-18T13:16:10Z Increased aortic stiffness human_phenotype HP:0030965 Aortic stiffness HP:0030965 The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension. PMID:28540066 An abnormality of the structure of the pulmonary artery. 2017-04-18T13:29:12Z human_phenotype HP:0030966 Abnormal pulmonary artery morphology HP:0030966 An abnormality of the function of the pulmonary artery. 2017-04-18T13:29:51Z human_phenotype HP:0030967 Abnormal pulmonary artery physiology HP:0030967 An abnormality of the structure of the pulmonary veins. 2017-04-18T13:38:34Z Fyler:3000 human_phenotype HP:0030968 Abnormal pulmonary vein morphology HP:0030968 An abnormality of the function of the pulmonary veins. 2017-04-18T13:38:42Z human_phenotype HP:0030969 Abnormal pulmonary vein physiology HP:0030969 An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. 2017-04-18T13:41:37Z human_phenotype HP:0030970 Abnormal vena cava physiology HP:0030970 HP:0005345 2017-04-18T09:46:41Z human_phenotype HP:0030971 obsolete Abnormal vena cava morphology true HP:0030971 A chronic deviation from normal pressure in the systemic arterial system. 2017-04-18T13:55:40Z Abnormal systemic BP human_phenotype HP:0030972 Abnormal systemic blood pressure HP:0030972 Abnormal systemic BP Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. 2017-04-18T14:35:09Z Exercise-induced malaise Postexertional malaise human_phenotype HP:0030973 PEM can be observed in individuals with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), as a post-acute sequela of SARS-CoV-2 infection (long COVID), and occasionally in individuals with mitochondrial disorders or cancer related fatigue. It is often accompanied by exacerabtion or new onset of exhaustion, cognitive impairment, muscle pain, muscle weakness, or other manifestations. The onset of PEM may occur hours or even days after exertion, and recovery from PEM is often slow, taking place over days or weeks or longer. PESE can contribute to the episodic nature of disability in post COVID-19 condition, often presenting as unpredictable fluctuations in symptoms and function. Postexertional symptom exacerbation HP:0030973 Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse. PMID:25695122 PMID:26904705 PMID:32105793 PMID:33071931 A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. 2017-04-18T15:25:12Z Cryptospermia human_phenotype HP:0030974 Cryptozoospermia HP:0030974 A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. PMID:25780588 An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. 2017-04-28T14:09:05Z Vaulted pontine tegmentum human_phenotype HP:0030975 Pontine tegmental cap HP:0030975 An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle. PMID:17690130 PMID:18842761 PMID:25691269 A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. 2017-05-10T22:59:20Z human_phenotype HP:0030976 Abnormal factor VIII activity HP:0030976 Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. 2017-05-10T23:00:13Z Elevated factor VIII level human_phenotype HP:0030977 Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis. Increased factor VIII activity HP:0030977 Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. https://orcid.org/0000-0002-2826-3879 A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. 2017-06-05T10:50:18Z human_phenotype HP:0030978 Decreased CSF/serum albumin ratio HP:0030978 A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. PMID:27388694 https://orcid.org/0000-0003-0169-8159 Enlargement of the large blood vessels in the choroid. 2017-05-10T23:59:11Z Dilated choroidal vessels human_phenotype HP:0030979 Choroidal thickening can be a feature of central serous chorioretinopathy, amongst other conditions, and results from focal or diffuse dilatation of large choroidal vessels. It is commonly seen in areas of increased choroidal vascular permeability on indocyanine green angiography. Dilatation of large choroidal vessels HP:0030979 Enlargement of the large blood vessels in the choroid. PMID:26026923 An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). 2017-05-05T09:56:23Z human_phenotype HP:0030980 Reduced brain glutamine level by MRS HP:0030980 An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). PMID:24123328 https://orcid.org/0000-0003-0169-8159 A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. 2017-05-06T10:08:33Z human_phenotype HP:0030981 Abnormal CSF/serum albumin ratio HP:0030981 A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF. PMID:27388694 A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. 2017-05-31T00:22:37Z human_phenotype HP:0030983 Ovarian thecoma HP:0030983 A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. NCIT:C1882229 PMID:27284435 A deviation from the normal concentration of serum bile acid concentration. 2017-05-13T12:45:39Z human_phenotype HP:0030984 There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesized in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulfate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to secondary bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting. Abnormal serum bile acid concentration HP:0030984 A reduction in the concentration of bile acid in the blood. 2017-05-13T13:02:06Z human_phenotype HP:0030985 Decreased serum bile acid concentration HP:0030985 Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. 2017-05-13T13:29:36Z human_phenotype HP:0030986 Biliary epithelial hyperplasia HP:0030986 Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen. PMID:21994886 Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). 2017-05-13T13:33:51Z human_phenotype HP:0030987 A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases. Suppurative cholangitis HP:0030987 Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess). PMID:21994886 Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. 2017-05-13T13:35:48Z human_phenotype HP:0030988 Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis. Granulomatous cholangitis HP:0030988 Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts. PMID:22333006 Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. 2017-05-13T13:40:31Z human_phenotype HP:0030989 Lymphoid cholangitis HP:0030989 Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement. PMID:21994886 Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree. 2017-05-13T13:41:39Z human_phenotype HP:0030990 Pleomorphic cholangitis HP:0030990 Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. 2017-05-13T13:42:59Z Fibrous cholangitis human_phenotype HP:0030991 Sclerosing cholangitis HP:0030991 Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. 2017-05-13T13:51:20Z human_phenotype HP:0030992 The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659]. Abnormal pancreatic duct morphology HP:0030992 Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. PMID:24265565 A congenital anomaly characterized by the presence of two separate pancreatic ducts. 2017-05-13T13:55:22Z Duplicated pancreatic duct human_phenotype HP:0030993 Duplication of pancreatic duct HP:0030993 A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. 2017-05-13T13:56:45Z human_phenotype HP:0030994 In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla. Pancreas divisum HP:0030994 A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present. PMID:24265565 HP:0001541 2017-05-13T14:07:02Z human_phenotype HP:0030995 obsolete Peritoneal effusion true HP:0030995 Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. 2017-05-13T14:10:04Z human_phenotype HP:0030996 Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting. Megaduodenum HP:0030996 Abnormal closure or blockage of the vas deferens. 2017-05-13T14:13:29Z Atresia of the vas deferens Vas deferens atresia human_phenotype HP:0030997 Atretic vas deferens HP:0030997 Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. 2017-05-13T18:30:18Z CSF rhinorrhoea human_phenotype HP:0030998 CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis. Cerebrospinal fluid rhinorrhoea HP:0030998 Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. PMID:17767107 CSF rhinorrhoea Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement). 2017-05-13T18:38:27Z HP:0040110 Abnormal saccule morphology Morphological abnormality of the saccule human_phenotype HP:0030999 Abnormal vestibular saccule morphology HP:0030999 Deterioration or loss of the tissues of the saccule of the vestibule. 2017-05-13T20:01:44Z human_phenotype HP:0031000 Vestibular saccular degeneration HP:0031000 A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle. 2017-05-13T20:08:29Z human_phenotype HP:0031001 Minifascicle formation HP:0031001 Inflammation of a nerve. 2017-05-13T20:14:14Z human_phenotype HP:0031002 Neuritis HP:0031002 Simultaneous inflammation of multiple nerves. 2017-05-13T20:14:55Z Multiple neuritis human_phenotype HP:0031003 Polyneuritis HP:0031003 Areflexia that is limited to one side of the body. 2017-05-13T20:18:36Z human_phenotype HP:0031004 Hemiareflexia HP:0031004 Areflexia that is limited to one side of the body. PMID:6722516 HP:0012534 2017-05-13T20:21:53Z human_phenotype HP:0031005 obsolete Hyperalgesia true HP:0031005 A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. 2017-05-13T20:23:24Z human_phenotype HP:0031006 Acroparesthesia HP:0031006 2017-05-13T21:07:23Z human_phenotype Jaw dystonia induced by speaking HP:0031007 Orofacial action-specific dystonia induced by speech HP:0031007 Involuntary protrusions, movements, spams and contortions of the tongue. 2017-05-13T21:10:32Z Tongue dystonia human_phenotype HP:0031008 Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing. Lingual dystonia HP:0031008 Involuntary protrusions, movements, spams and contortions of the tongue. PMID:24808861 Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. 2017-05-13T21:33:40Z Dactylolysis spontanea human_phenotype HP:0031009 Ainhum HP:0031009 Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation. PMID:26379327 An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. 2017-05-13T21:44:05Z Hyperphalangy of third finger human_phenotype HP:0031010 Hyperphalangy of the 3rd finger HP:0031010 An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. PMID:27738187 PMID:30728880 Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. 2017-05-18T02:35:32Z human_phenotype Sudanophilic lesion HP:0031011 Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks. Fatty streak HP:0031011 Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV. PMID:8181179 Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. 2017-05-18T02:45:29Z TCFA human_phenotype HP:0031012 Thin-cap fibroatheroma HP:0031012 Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis. PMID:27500096 TCFA A reduction of joint mobility resulting from changes involving the articular surfaces. 2017-05-18T02:58:48Z human_phenotype HP:0031013 Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. Ankylosis HP:0031013 HP:0031632 2017-05-18T03:40:20Z human_phenotype HP:0031014 obsolete Arteria lusoria true HP:0031014 Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. 2017-05-20T11:15:20Z human_phenotype Idiopathic non-cirrhotic portal hypertension Incomplete septal cirrhosis Non cirrhotic portal fibrosis Obliterative portal venopathy HP:0031015 The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding. Intrahepatic portal vein sclerosis HP:0031015 Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. PMID:25796481 Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. 2017-05-20T11:32:22Z human_phenotype Zebra stripe sign HP:0031016 In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates. Alternating radiolucent and radiodense metaphyseal lines HP:0031016 Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra. PMID:28384951 Multiple defects in the atrial septum. 2017-05-20T11:43:29Z human_phenotype HP:0031017 The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes. Swiss cheese atrial septal defect HP:0031017 Multiple defects in the atrial septum. PMID:18559707 Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). 2017-05-31T00:32:10Z Acrosyringeal adenomatosis Eccrine syringofibroadenomatous hyperplasia Syringofibroadenoma human_phenotype HP:0031018 Eccrine syringofibroadenoma HP:0031018 Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA). NCIT:CL017969 PMID:26937300 Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments. 2017-06-14T16:30:54Z human_phenotype HP:0031019 Pyknotic bone marrow neutrophils HP:0031019 A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. 2017-06-14T16:35:25Z Myeloid hyperplasia human_phenotype HP:0031020 Bone marrow hypercellularity HP:0031020 A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus]. 2017-05-21T13:13:55Z NCIT:C3712 human_phenotype HP:0031021 Squamous Papilloma HP:0031021 A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus]. 2017-05-21T13:15:14Z NCIT:C6038 Squamous papilloma of the uvula human_phenotype HP:0031022 Oropharyngeal squamous papilloma HP:0031022 Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. 2017-05-21T13:18:01Z NCIT:C6559 human_phenotype HP:0031023 Multiple mucosal neuromas HP:0031023 Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. PMID:16702501 A benign skin adnexal tumor of eccrine differentiation. 2017-05-21T13:32:29Z human_phenotype HP:0031024 Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis. Cylindroma HP:0031024 A benign skin adnexal tumor of eccrine differentiation. NCIT:C27094 PMID:27294061 A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. 2017-05-21T13:42:26Z human_phenotype HP:0031025 Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumor is often made after surgery. Seeding of tumor deposits into the serosa or omentum is almost invariably a sign of malignancy. Gastric leiomyosarcoma HP:0031025 A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible. NCIT:C27200 PMID:25069607 The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. 2017-05-21T15:50:25Z Snail-like pelvis Snail-shaped ilia human_phenotype Schneckenbecken dysplasia HP:0031026 This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis. Snail-like ilia HP:0031026 The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. PMID:3799723 A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. 2017-05-21T16:09:24Z human_phenotype HP:0031027 Internal notch of the femoral head HP:0031027 A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546. PMID:11694546 PMID:24339047 Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. 2017-05-27T10:37:46Z Milk-like serum Plasma lactescence human_phenotype HP:0031028 The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL. Lactescent serum HP:0031028 Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. PMID:15368719 The concentration of CEA (carcinoembryonic antigen) in the blood circulation is above the upper limit of normal. 2017-05-27T10:48:16Z Elevated carcinoembryonic antigen level Increased plasma CEA human_phenotype HP:0031029 Carcinoembryonic antigen (CEA) is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. Elevated circulating CEA concentration HP:0031029 Increased plasma CEA The concentration of mucin-16 (also known as CA-125) in the blood circulation is above the upper limit of normal. 2017-05-27T10:54:15Z Elevated carcinoma antigen 125 level Elevated circulating CA-125 concentration Elevated mucin-16 concentration Elevated mucin-16 level Elevated mucin-16 level in blood Increased mucin-16 concentration Increased mucin-16 level Increased mucin-16 level in blood Increased plasma CA125 human_phenotype HP:0031030 Cancer-antigen 125 (CA-125) is used as a biomarker for ovarian and other cancers. Mucin 16 (cancer antigen 125) is a cell surface glycoprotein that plays a role in promoting cancer cell growth in ovarian cancer. Elevated circulating mucin 16 concentration HP:0031030 Increased plasma CA125 Any deviation from the normal concentration of retinol-binding protein in the blood circulation. 2017-05-27T10:59:35Z human_phenotype HP:0031031 The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum retinol-binding protein (RBP) concentration is used as a surrogate measure for serum retinol. Abnormal circulating retinol-binding protein concentration HP:0031031 The concentration of retinol-binding protein in the blood circulation is below the lower limit of normal. 2017-05-27T11:03:28Z human_phenotype HP:0031032 Decreased circulating retinol-binding protein concentration HP:0031032 The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. 2017-05-27T11:07:24Z Renal acidification defect human_phenotype HP:0031033 Impaired urinary acidification HP:0031033 The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. PMID:6876936 Any deviation from the normal concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation. 2017-05-27T11:20:49Z Abnormal circulating insulin-like growth factor-binding protein acid labile subunit concentration Abnormal insulin-like growth factor-binding protein complex acid labile subunit level human_phenotype HP:0031034 Insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. This term refers specifically to the circulating concentration of the acid-labile subunit. Abnormal circulating insulin-like growth factor-binding protein acid labile subunit concentration HP:0031034 Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. 2017-06-14T16:40:44Z human_phenotype HP:0031035 Chronic infection HP:0031035 The concentration of GH-binding protein (= growth hormone-binding protein) in the blood circulation is below the lower limit of normal. 2017-05-27T11:34:42Z Decreased plasma GH-binding protein human_phenotype HP:0031036 Decreased circulating GH-binding protein concentration HP:0031036 Decreased plasma GH-binding protein Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. 2017-05-27T11:44:58Z Reduced plasma INSL3 level human_phenotype HP:0031037 Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome. Reduced insulin-like factor 3 level HP:0031037 Blood concentration of insulin-like factor 3 (ILF3) is below normal limits. PMID:24640568 Reduced plasma INSL3 level Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. 2017-05-27T11:49:05Z Meiotic maturation arrest of spermatogenesis human_phenotype HP:0031038 Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility. Spermatogenesis maturation arrest HP:0031038 Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. PMID:21684558 A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. 2017-05-27T11:50:54Z Spermatocyte arrest Spermatocyte meiotic arrest Spermatocytic arrest human_phenotype HP:0031039 Spermatocyte maturation arrest HP:0031039 A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids. PMID:21684558 A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. 2017-05-27T11:51:00Z Maturation arrest of spermatogenesis at spermatid stage human_phenotype Late spermatogenesis maturation arrest HP:0031040 See Figure 2c and 2d of PMID:9510006. Round spermatid arrest HP:0031040 A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa. PMID:21684558 PMID:9510006 Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. 2017-05-27T12:23:27Z Superior vena cava obstruction human_phenotype Superior vena cava syndrome HP:0031041 Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means. Obstruction of the superior vena cava HP:0031041 Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. 2017-05-27T13:34:44Z Raspberry tongue human_phenotype HP:0031042 Strawberry tongue HP:0031042 Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry. PMID:26222562 A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. 2017-05-27T13:45:19Z human_phenotype HP:0031043 Type A4 brachydactyly HP:0031043 A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits. PMID:8387724 A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. 2017-05-27T13:48:13Z human_phenotype HP:0031044 Individuals with BDA5 may have nail dysplasia; this should be coded separately. Type A5 brachydactyly HP:0031044 A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5. PMID:18554391 Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). 2017-05-27T14:02:49Z human_phenotype HP:0031045 Acral blistering HP:0031045 A developmental defect characterized by lack of a soft palate. 2017-05-27T14:06:10Z Agenesis of the soft palate human_phenotype HP:0031046 Absent soft palate HP:0031046 A developmental defect characterized by lack of a soft palate. PMID:11420024 An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. 2017-05-27T14:25:46Z Monoclonal hypergammaglobulinemia human_phenotype HP:0031047 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. Paraproteinemia HP:0031047 An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. PMID:17403946 An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2017-05-27T14:28:36Z human_phenotype HP:0031048 Light-chain paraproteinemia HP:0031048 An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2017-05-27T14:29:55Z human_phenotype HP:0031049 The heavy chain diseases (HCDs) are rare B-cell malignancies that are distinguished by the production of a monoclonal immunoglobulin heavy chain (HC) without an associated light chain by the malignant B-cells. There are three types of HCD defined by the class of immunoglobulin (Ig) HC produced: IgA (alpha-HCD), IgG (gamma-HCD), and IgM (mu-HCD). Heavy-chain paraproteinemia HP:0031049 An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. PMID:12057070 An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells. 2017-05-27T14:30:25Z human_phenotype HP:0031050 Whole-immunoglobulin paraproteinemia HP:0031050 An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2017-05-27T14:41:39Z human_phenotype HP:0031051 Tarsal sclerosis HP:0031051 Increased blood concentration of vascular endothelial growth factor (VEGF). 2017-05-27T15:09:56Z Elevated circulating VEGF concentration human_phenotype HP:0031052 Elevated vascular endothelial growth factor level HP:0031052 Elevated circulating VEGF concentration Narrowing or constriction of the aorta localized to the region of the transverse aortic arch. 2017-05-27T17:07:47Z human_phenotype HP:0031053 Coarctation in the transverse aortic arch HP:0031053 Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. 2017-05-27T17:10:07Z human_phenotype HP:0031054 Long segment coarctation of the aorta HP:0031054 Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta. PMID:23909637 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch). 2017-05-27T17:24:29Z human_phenotype HP:0031055 Abnormal branching pattern of left aortic arch HP:0031055 A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. 2017-05-27T17:29:26Z Intracranial fusiform aneurysm human_phenotype HP:0031056 Fusiform cerebral aneurysm HP:0031056 A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. 2017-05-27T17:57:13Z Cracked skin Skin fissuring human_phenotype HP:0031057 Skin fissure HP:0031057 Cracked skin Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. 2017-05-28T22:14:33Z human_phenotype HP:0031058 Impairment of activities of daily living HP:0031058 This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. 2017-05-28T22:16:30Z human_phenotype HP:0031059 Impaired ability to bathe oneself HP:0031059 This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing. PMID:10362969 This applies to an individual who needs help with dressing or needs to be completely dressed. 2017-05-28T22:21:14Z human_phenotype HP:0031060 Impaired ability to dress oneself HP:0031060 This applies to an individual who needs help with dressing or needs to be completely dressed. PMID:10362969 This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. 2017-05-28T22:22:26Z human_phenotype HP:0031061 Impaired toileting ability HP:0031061 Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. 2017-05-28T22:23:15Z human_phenotype HP:0031062 Impaired transferring ability HP:0031062 Applies to an individual who needs help in moving from bed to chair or requires a complete transfer. PMID:10362969 Applies to an individual who needs partial or total help with feeding or requires parenteral feeding. 2017-05-28T22:24:24Z human_phenotype HP:0031063 Impaired feeding ability HP:0031063 Partial or total incontinence of bowel or bladder. 2017-05-28T22:29:13Z human_phenotype HP:0031064 Impaired continence HP:0031064 2017-05-28T22:32:58Z human_phenotype HP:0031065 Abnormal ovarian morphology HP:0031065 Any anomaly of ovarian function. 2017-05-28T22:33:50Z human_phenotype HP:0031066 Abnormal ovarian physiology HP:0031066 A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. 2017-05-28T22:37:49Z human_phenotype Empty follicle syndrome HP:0031067 Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing. Empty ovarian follicle HP:0031067 A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization. PMID:19562053 HP:0012427 2017-05-28T22:50:19Z human_phenotype HP:0031068 obsolete Increased femoral torsion true HP:0031068 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. 2017-05-28T22:59:20Z human_phenotype HP:0031069 Abnormal femoral torsion HP:0031069 HP:0008796 2017-05-28T22:59:52Z human_phenotype HP:0031070 obsolete Femoral retroversion true HP:0031070 Any anomaly of the structure of an organ ofthe endocrine system. 2017-05-28T23:11:43Z human_phenotype HP:0031071 Abnormal endocrine morphology HP:0031071 Any anomaly of the function of the endocrine system. 2017-05-28T23:12:36Z human_phenotype HP:0031072 Abnormal endocrine physiology HP:0031072 An anomalous response to a test that is designed to probe the function of the endocrine system. 2017-05-28T23:14:39Z human_phenotype HP:0031073 Abnormal response to endocrine stimulation test HP:0031073 An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. 2017-05-28T23:15:41Z Abnormal response to adrenocorticotropic-hormone stimulation test Abnormal response to corticotropin stimulation test human_phenotype HP:0031074 Corticotropin is another term for ACTH. Abnormal response to ACTH stimulation test HP:0031074 An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level. 2017-05-28T23:17:20Z human_phenotype HP:0031075 Abnormal response to insulin tolerance test HP:0031075 Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). 2017-05-28T23:23:03Z human_phenotype HP:0031076 Impaired cortisol response to insulin stimulation test HP:0031076 An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. 2017-05-28T23:25:56Z Abnormal response to CRH stimulation test human_phenotype HP:0031077 Abnormal response to corticotropin releasing hormone stimulation test HP:0031077 Abnormal response to CRH stimulation test Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test. 2017-05-28T23:29:58Z human_phenotype HP:0031078 Impaired cortisol response to corticotropin releasing hormone stimulation test HP:0031078 Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). 2017-05-28T23:33:58Z human_phenotype HP:0031079 Impaired growth-hormone response to insulin stimulation test HP:0031079 An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). 2017-05-28T23:47:24Z human_phenotype HP:0031080 Abnormal response to glucagon stimulation test HP:0031080 Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test. 2017-05-28T23:49:10Z human_phenotype HP:0031081 Impaired cortisol response to glucagon stimulation test HP:0031081 Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. 2017-05-28T23:49:45Z human_phenotype HP:0031082 Impaired growth-hormone response to glucagon stimulation test HP:0031082 An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. 2017-05-28T23:53:03Z Abnormal response to hCG stimulation test human_phenotype HP:0031083 Abnormal response to human chorionic gonadotrophin stimulation test HP:0031083 Abnormal response to hCG stimulation test An abnormally high increase in insulin levels following a glucagon stimulation test. 2017-05-29T00:02:23Z human_phenotype HP:0031084 Excessive insulin response to glucagon test HP:0031084 An abnormally high increase in insulin levels following a glucagon stimulation test. PMID:21791970 The concentration of prealbumin in the blood circulation is below the lower limit of normal. 2017-05-29T00:10:33Z HP:0033452 Decreased circulating prealbumin concentration Decreased prealbumin level Decreased transthyretin concentration Decreased transthyretin level Decreased transthyretin level in blood Reduced transthyretin concentration Reduced transthyretin level Reduced transthyretin level in blood human_phenotype HP:0031085 Decreased circulating prealbumin concentration HP:0031085 Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. 2017-05-29T00:18:01Z Undescended ovary human_phenotype HP:0031086 Ectopic ovary HP:0031086 Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels. PMID:12584384 The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. 2017-05-29T00:29:04Z Absent adolescent growth spurt human_phenotype HP:0031087 Absent pubertal growth spurt HP:0031087 Persistent vaginal dryness. 2017-05-29T00:50:43Z human_phenotype HP:0031088 Vaginal dryness HP:0031088 Persistent vaginal dryness. PMID:21702402 Swelling related to fluid accumulation within the palate. 2017-05-29T00:54:26Z Palatal oedema Palate edema Palate oedema human_phenotype HP:0031089 Palatal edema HP:0031089 Palatal oedema Palate oedema Fingers appear swollen and plump owing to inflammation of the complete finger. 2017-05-29T00:57:56Z Sausage fingers human_phenotype HP:0031090 Finger dactylitis HP:0031090 Sausage fingers Toes appear swollen and plump owing to inflammation of the complete toe. 2017-05-29T01:00:10Z Sausage toes human_phenotype HP:0031091 Toe dactylitis HP:0031091 Sausage toes Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). 2017-05-29T01:07:51Z human_phenotype HP:0031092 Spindle-shaped finger HP:0031092 Any anomaly of the structure of the breast. 2017-06-30T15:41:38Z human_phenotype HP:0031093 Abnormal breast morphology HP:0031093 Any anomaly of the function of the breast. 2017-06-30T15:42:09Z human_phenotype HP:0031094 Abnormal breast physiology HP:0031094 Any structural anomaly of the structure of the humerus (i.e., upper arm bone). 2017-05-30T01:22:39Z HP:0002988 HP:0003063 Abnormality of the humerus human_phenotype HP:0031095 Abnormal humerus morphology HP:0031095 A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. 2017-05-30T02:04:19Z human_phenotype HP:0031096 Delayed vertebral ossification HP:0031096 Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. 2017-05-30T02:12:45Z Abnormal TSH level Abnormal circulating thyrotropin concentration Abnormal thyrotropin level human_phenotype HP:0031097 Abnormal circulating thyroid-stimulating hormone concentration HP:0031097 Abnormal TSH level Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. 2017-05-30T02:13:11Z Decreased plasma TSH Decreased thyrotropin level human_phenotype HP:0031098 Decreased thyroid-stimulating hormone level HP:0031098 Decreased plasma TSH Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. 2017-05-30T02:18:01Z human_phenotype HP:0031099 Abnormal circulating inhibin level HP:0031099 Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone. PMID:12790766 The concentration of inhibin B in the blood circulation is below the lower limit of normal. 2017-05-30T02:19:26Z human_phenotype HP:0031100 Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism. Decreased circulating inhibin B concentration HP:0031100 The concentration of inhibin B in the blood circulation is below the lower limit of normal. PMID:11720872 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. 2017-05-30T02:34:22Z Abnormal antimullerian hormone level human_phenotype HP:0031101 Abnormal circulating antimullerian hormone concentration HP:0031101 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases. PMID:22693172 An elevation above the normal range of the antimullerian hormone in the circulation. 2017-05-30T02:37:15Z Increased antimullerian hormone level Increased plasma AMH human_phenotype HP:0031102 Increased circulating antimullerian hormone concentration HP:0031102 Increased plasma AMH A reduction below the normal range of the antimullerian hormone in the circulation. 2017-05-30T02:37:50Z Anti-Mullerian hormone low Decreased antimullerian hormone level Decreased plasma AMH human_phenotype HP:0031103 Decreased circulating antimullerian hormone circulation HP:0031103 Decreased plasma AMH The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. 2017-05-30T02:42:21Z human_phenotype HP:0031104 Insulin receptor antibody positivity HP:0031104 The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. PMID:3280181 Any anomaly of the structure of the uterus 2017-05-30T02:52:38Z human_phenotype HP:0031105 Abnormal uterus morphology HP:0031105 An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. 2017-05-30T02:53:49Z human_phenotype HP:0031106 T-shaped uterus HP:0031106 An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging. PMID:23771171 Reduced width of the cross sectional diameter of the fibula. 2017-05-30T03:09:49Z Thin fibula human_phenotype HP:0031107 Decreased fibular diameter HP:0031107 A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. 2017-06-09T10:13:45Z human_phenotype HP:0031108 Triceps weakness HP:0031108 Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. 2017-06-30T15:43:23Z Lactation incapacity human_phenotype HP:0031109 Agalactia HP:0031109 As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. 2017-06-30T16:02:43Z human_phenotype Twin to twin transfusion syndrome HP:0031110 Twin-to-twin transfusion HP:0031110 As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure. PMID:19283655 A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin. 2017-08-31T23:10:53Z Skin hamartoma human_phenotype HP:0031111 Cutaneous hamartoma HP:0031111 A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. 2017-06-10T11:41:29Z human_phenotype HP:0031117 Purely bicuspid aortic valve HP:0031117 A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis. PMID:17467434 A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. 2017-06-10T11:46:00Z human_phenotype HP:0031118 Single raphe bicuspid aortic valve HP:0031118 A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size. PMID:17467434 PMID:24827036 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. 2017-06-10T11:48:42Z human_phenotype HP:0031119 Bicuspid aortic valve with right-left cusp fusion HP:0031119 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure. PMID:17467434 PMID:24827036 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure. 2017-06-10T12:00:04Z human_phenotype HP:0031120 Bicuspid aortic valve with right-noncoronary cusp fusion HP:0031120 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure. 2017-06-10T12:04:18Z human_phenotype HP:0031121 Bicuspid aortic valve with left-noncoronary cusp fusion HP:0031121 A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. 2017-06-10T12:06:51Z human_phenotype HP:0031122 Two-raphe bicuspid aortic valve HP:0031122 A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis. PMID:17467434 Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. 2017-06-10T12:26:09Z human_phenotype HP:0031123 Recurrent gastroenteritis HP:0031123 Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2). 2017-06-10T12:30:08Z human_phenotype HP:0031124 Decreased platelet thromboxane A2 receptor HP:0031124 Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine. 2017-06-10T12:30:42Z human_phenotype HP:0031125 Decreased platelet alpha-2A-adrenergic receptor HP:0031125 Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. 2017-06-10T12:31:10Z human_phenotype HP:0031126 Impaired clot retraction HP:0031126 Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin. 2017-06-10T12:31:53Z human_phenotype HP:0031127 Impaired convulxin-induced platelet aggregation HP:0031127 Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP. 2017-06-10T12:32:18Z human_phenotype HP:0031128 Impaired collagen-related peptide-induced platelet aggregation HP:0031128 Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA. 2017-06-10T12:32:36Z human_phenotype HP:0031129 Impaired phorbol myristate acetate-induced platelet aggregation HP:0031129 Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore. 2017-06-10T12:33:25Z Impaired Ca ionophore-induced platelet aggregation Impaired Ca2+ ionophore-induced platelet aggregation human_phenotype HP:0031130 Impaired calcium ionophore-induced platelet aggregation HP:0031130 Impaired Ca ionophore-induced platelet aggregation Impaired Ca2+ ionophore-induced platelet aggregation An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. 2017-06-10T12:34:11Z human_phenotype HP:0031131 Abnormal platelet phosphatidylserine exposure HP:0031131 An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement. PMID:12814644 Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. 2017-06-10T12:39:22Z human_phenotype HP:0031132 Impaired annexin V binding to platelet phosphatidylserine HP:0031132 Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry. 2017-06-10T12:54:03Z human_phenotype HP:0031133 Increased annexin V binding to platelet phosphatidylserine HP:0031133 A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. 2017-06-10T13:02:05Z human_phenotype HP:0031134 Cor triatriatum sinister HP:0031134 A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum. PMID:22379596 Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue). 2017-06-10T13:29:55Z Physical trauma triggered symptoms human_phenotype HP:0031135 Triggered by physical trauma HP:0031135 A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. 2017-06-10T15:21:08Z human_phenotype HP:0031136 Decreased acrosin in sperm head HP:0031136 Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. 2017-06-10T15:30:13Z human_phenotype HP:0031137 Storage in hepatocytes HP:0031137 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). 2017-06-10T18:39:37Z Abnormal B-type natriuretic peptide level human_phenotype HP:0031138 Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria. Abnormal circulating B-type natriuretic peptide concentration HP:0031138 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). PMID:22145138 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. 2017-06-10T22:38:18Z human_phenotype HP:0031139 Frog-leg posture HP:0031139 An abnormal appearance of the liver or any of its components on sonography (ultrasound). 2017-06-11T19:18:39Z human_phenotype HP:0031140 Abnormal liver sonography HP:0031140 Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. 2017-06-11T19:19:59Z Hyperechogenic liver human_phenotype HP:0031141 Increased hepatic echogenicity HP:0031141 Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. PMID:21472065 Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). 2017-06-11T19:20:52Z human_phenotype HP:0031142 Abnormal hepatic echogenicity HP:0031142 Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen). PMID:21472065 Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. 2017-06-11T19:23:55Z Hypoechogenic liver human_phenotype HP:0031143 Decreased hepatic echogenicity HP:0031143 Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device. PMID:21472065 The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography. 2017-06-11T19:31:31Z human_phenotype HP:0031144 Coarsened hepatic echotexture HP:0031144 An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). 2017-06-11T19:50:04Z human_phenotype HP:0031145 Starry sky appearance on hepatic sonography HP:0031145 An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background). PMID:26157918 An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. 2017-06-11T20:31:50Z human_phenotype HP:0031146 Impaired oral bolus formation HP:0031146 An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. PMID:16776766 Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. 2017-06-18T13:09:52Z VMA human_phenotype HP:0031150 Vitreomacular adhesion HP:0031150 Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions. PMID:24053995 VMA Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. 2017-06-18T13:11:03Z VMT human_phenotype HP:0031151 Vitreomacular traction HP:0031151 Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad. PMID:24053995 VMT Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. 2017-06-18T13:12:27Z FTMH human_phenotype HP:0031152 Full-thickness macular hole HP:0031152 Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. PMID:24053995 FTMH Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. 2017-06-18T13:16:01Z Membranous anomaly Membranous vitreous Membranous vitreous phenotype human_phenotype HP:0031153 Membranous vitreous appearance HP:0031153 Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. PMID:20513134 PMID:21921955 Vitreous humor of the eye displaying beaded bundles of irregular diameters. 2017-06-18T13:18:06Z human_phenotype HP:0031154 Beaded vitreous appearance HP:0031154 Vitreous humor of the eye displaying beaded bundles of irregular diameters. PMID:20513134 PMID:21921955 An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. 2017-06-18T13:19:50Z Increased Arden ratio of EOG human_phenotype HP:0031155 Increased Arden ratio of electrooculogram HP:0031155 Increased Arden ratio of EOG Decreased platelet cell membrane concentration of glycoprotein Ib. 2017-06-18T13:22:56Z human_phenotype HP:0031156 Decreased platelet glycoprotein Ib HP:0031156 Decreased platelet cell membrane concentration of glycoprotein Ib. PMID:11157507 An abnormal connection between a carotid artery and the cavernous sinus. 2017-06-18T13:31:58Z Caroticocavernous fistula human_phenotype HP:0031157 The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss. Carotid cavernous fistula HP:0031157 An abnormal connection between a carotid artery and the cavernous sinus. PMID:23571267 An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. 2017-06-18T13:39:46Z human_phenotype HP:0031158 Widened atrophic scar HP:0031158 An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. PMID:22353005 A reduction in the thickness of Descemet's membrane. 2017-06-18T13:55:59Z human_phenotype HP:0031159 Thinning of Descemet membrane HP:0031159 Impaired egress of mature neutrophils from bone marrow causing neutropenia. 2017-06-18T14:13:54Z human_phenotype HP:0031160 The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments. Myelokathexis HP:0031160 Impaired egress of mature neutrophils from bone marrow causing neutropenia. PMID:10607719 PMID:25662009 An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). 2017-06-18T17:37:40Z human_phenotype HP:0031161 Reduced brain glutamate level by MRS HP:0031161 An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). PMID:24123328 Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. 2017-06-18T17:51:36Z human_phenotype HP:0031162 In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter. Impaired oropharyngeal swallow response HP:0031162 Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. PMID:27785002 Reduced bone mineral density of the femur. 2017-06-18T17:59:29Z Low femur bone density human_phenotype HP:0031163 Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group. Low femoral bone density HP:0031163 Reduced bone mineral density of the femur. PMID:19580459 Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. 2017-06-18T18:03:33Z Growth resumption lines Harris lines human_phenotype HP:0031164 Growth arrest lines HP:0031164 Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. https://orcid.org/0000-0003-0169-8159 Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). 2017-06-18T18:13:43Z Multifocal onset seizures human_phenotype HP:0031165 Multifocal seizures HP:0031165 Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). PMID:27091239 Involuntary, fine, continuous, undulating contractions of the eyelid. 2017-06-18T19:03:22Z Myokymia orbicularis Orbicularis myokymia human_phenotype HP:0031166 Eyelid myokymia HP:0031166 Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. 2017-06-18T19:18:01Z Potassium-rich food triggered symptoms Triggered by ingestion of K-rich food human_phenotype HP:0031167 In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies. Triggered by ingestion of potassium-rich food HP:0031167 Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium. PMID:19472919 Triggered by ingestion of K-rich food A pregnancy that extends to 42 weeks of gestation or beyond. 2017-06-18T19:54:05Z human_phenotype HP:0031169 This term can apply to a child born of a postterm pregnancy. Postterm pregnancy HP:0031169 A pregnancy that extends to 42 weeks of gestation or beyond. PMID:24753906 Fetal masculinization of female external genitalia. 2017-06-18T19:57:35Z Female foetal virilization human_phenotype HP:0031170 This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones. Female fetal virilization HP:0031170 Female foetal virilization A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. 2017-06-18T20:02:20Z Spurring of femur human_phenotype HP:0031171 Femoral spur HP:0031171 A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration. 2017-06-18T20:05:46Z human_phenotype HP:0031172 Sectoral retinitis pigmentosa HP:0031172 A bony projection (spur, osteophyte) originating from the tibia. 2017-06-18T20:06:57Z Spurring of tibiae human_phenotype HP:0031173 Tibial spur HP:0031173 An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. 2017-06-18T20:08:32Z human_phenotype HP:0031174 This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers. Double-layered patella HP:0031174 An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. PMID:12525546 PMID:12966518 A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. 2017-06-18T20:20:43Z human_phenotype HP:0031175 Absent cervical vertebra HP:0031175 A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine. 2017-06-18T20:20:53Z human_phenotype HP:0031176 Absent thoracic vertebra HP:0031176 Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. 2017-06-18T20:25:24Z human_phenotype HP:0031177 Finger flexor weakness HP:0031177 Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. PMID:15668452 Head is bent in the posterior direction in a permanent fashion. 2017-06-18T20:28:29Z human_phenotype HP:0031178 Fixed head retroflexion HP:0031178 Head is bent in the posterior direction in a permanent fashion. PMID:25288843 Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. 2017-06-18T20:41:44Z human_phenotype Meningism HP:0031179 Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism. Nuchal rigidity HP:0031179 Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. PMID:12060874 An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). 2017-06-18T20:57:08Z Erythema chronicum migrans human_phenotype HP:0031180 Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size. Erythema migrans HP:0031180 An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). PMID:18452799 Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. 2017-06-18T21:02:25Z human_phenotype HP:0031181 This feature can be a manifestation of glucagonoma and other cancers. Necrolytic migratory erythema HP:0031181 Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution. PMID:20054043 The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. 2017-06-21T10:30:21Z Increased NT-proBNP level human_phenotype HP:0031185 Elevated circulating NT-proBNP concentration HP:0031185 An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone. 2017-06-21T10:39:27Z human_phenotype HP:0031186 Abnormal circulating deoxycorticosterone level HP:0031186 An abnormality of the concentration of pregnenolone in the blood. 2017-06-21T10:45:33Z Abnormality of circulating pregnenolone level human_phenotype HP:0031187 Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids. Abnormal circulating pregnenolone concentration HP:0031187 An abnormality of the concentration of pregnenolone in the blood. PMID:24849255 A buildup of fluid that causes swelling in the soft tissues of the genital area. 2017-06-24T12:59:46Z Genital oedema human_phenotype HP:0031188 Genital edema HP:0031188 Genital oedema A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. 2017-06-24T13:25:58Z human_phenotype HP:0031189 Wrist drop can be caused by radial nerve palsy. Wrist drop HP:0031189 Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. 2017-06-24T14:01:24Z Superficial perivascular inflammatory infiltrate human_phenotype HP:0031190 Superficial dermal perivascular inflammatory infiltrate HP:0031190 Numerous lymphocytes surrounding blood vessels in the deep part of the dermis. 2017-06-24T14:07:03Z Deep perivascular inflammatory infiltrate human_phenotype HP:0031191 Deep dermal perivascular inflammatory infiltrate HP:0031191 Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). 2017-06-24T14:10:09Z human_phenotype HP:0031192 Abnormal morphology of left ventricular trabeculae HP:0031192 Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). 2017-06-24T14:10:16Z human_phenotype HP:0031193 Abnormal morphology of right ventricular trabeculae HP:0031193 An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae). 2017-06-24T14:13:54Z human_phenotype HP:0031194 Increased density of left ventricular trabeculae HP:0031194 An increased number and density of the trabeculae in the apex (tip) of the left ventricle. 2017-06-24T14:15:22Z human_phenotype HP:0031195 Apical hypertrabeculation of the left ventricle HP:0031195 Reduced thickness of the outer, dense layer of the myocardium. 2017-06-24T14:16:07Z human_phenotype HP:0031196 The myocardium compact layer is only in the left ventricle. Thin myocardium compact layer HP:0031196 A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells). 2017-06-27T10:50:11Z Cellular casts human_phenotype HP:0031197 Cellular urinary casts HP:0031197 A type of cellular urinary cast composed of renal tubular epithelial cells. 2017-06-27T10:53:27Z human_phenotype HP:0031198 Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection. Renal tubular epithelial cell casts HP:0031198 A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells. 2017-06-27T10:55:36Z Acellular casts human_phenotype HP:0031199 Acellular urinary casts HP:0031199 A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. 2017-06-27T11:00:48Z human_phenotype HP:0031200 Hyaline casts HP:0031200 A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. PMID:26079824 A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. 2017-06-27T11:06:58Z human_phenotype HP:0031201 It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation. Granular casts HP:0031201 A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. PMID:26079824 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. 2017-06-27T11:08:35Z human_phenotype HP:0031202 Waxy casts HP:0031202 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts. PMID:26079824 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. 2017-06-27T11:10:06Z human_phenotype HP:0031203 The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome. Fatty casts HP:0031203 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses. PMID:26079824 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. 2017-06-27T11:12:00Z human_phenotype HP:0031204 Bacterial cell casts HP:0031204 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection. PMID:26079824 Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. 2017-06-29T11:32:13Z Reduced leukocyte acid lipase activity human_phenotype HP:0031205 Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range. Reduced lysosomal acid lipase activity HP:0031205 Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. PMID:22227072 Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. 2017-06-29T12:15:29Z human_phenotype HP:0031206 Striatal T2 hyperintensity HP:0031206 Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. PMID:27058447 A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. 2017-07-02T10:39:07Z Hemangioma of the liver Liver hemangioma human_phenotype HP:0031207 Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas. Hepatic hemangioma HP:0031207 A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. NCIT:C3869 PMID:21191518 An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. 2017-07-02T10:50:16Z Increased pituitary glycoprotein alpha subunit level Increased pituitary glycoprotein polypeptide alpha subunit level human_phenotype HP:0031208 Increased pituitary glycoprotein hormone alpha subunit level HP:0031208 Reduction in the level of lipoprotein lipase in the blood. 2017-07-02T10:57:10Z Decreased lipoprotein lipase level human_phenotype HP:0031209 Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol. Decreased circulating lipoprotein lipase concentration HP:0031209 Reduction in the level of lipoprotein lipase in the blood. PMID:18194851 PMID:30725725 A deviation from the normal concentration of hyaluronic acid in the blood. 2017-07-02T11:00:02Z human_phenotype HP:0031210 Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells. Abnormal circulating hyaluronic acid concentration HP:0031210 A deviation from the normal concentration of hyaluronic acid in the blood. PMID:11861239 An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol. 2017-07-02T11:04:47Z HP:0500010 Elevated cholesteryl ester level Increased cholesterol esters Increased cholesteryl esters human_phenotype HP:0031211 The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis. Elevated cholesterol ester level HP:0031211 2017-07-02T11:20:51Z human_phenotype HP:0031212 Abnormal circulating progesterone level HP:0031212 An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. 2017-07-02T11:21:36Z Elevated circulating 17-OHP Elevated circulating 17-hydroxyprogesterone human_phenotype HP:0031213 An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency. Elevated circulating 17-hydroxyprogesterone concentration HP:0031213 Elevated circulating 17-OHP 2017-07-02T11:29:06Z Decreased circulating dehydroepiandrosterone level human_phenotype HP:0031214 A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females. Decreased circulating dehydroepiandrosterone concentration HP:0031214 A reduced concentration of dehydroepiandrosterone-sulfate in the blood. 2017-07-02T11:31:34Z Decreased circulating dehydroepiandrosterone-sulfate level human_phenotype HP:0031215 DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1. Decreased circulating dehydroepiandrosterone-sulfate concentration HP:0031215 An elevated concentration of progesterone in the blood. 2017-07-02T11:33:47Z human_phenotype HP:0031216 Increased circulating progesterone HP:0031216 Sudden feelings of warmth that are generally most pronounced over the face, neck and chest. 2017-07-02T11:38:24Z human_phenotype HP:0031217 Hot flashes are most commonly due to menopause but may be observed with other conditions. Hot flashes HP:0031217 A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. 2017-07-02T11:46:17Z Inappropriate ADH secretion human_phenotype SIADH Syndrome of inappropriate antidiuretic hormone secretion HP:0031218 Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature. Inappropriate antidiuretic hormone secretion HP:0031218 Inappropriate ADH secretion SIADH A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. 2017-07-02T11:55:22Z human_phenotype HP:0031219 Reduced radioactive iodine uptake HP:0031219 An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. 2017-07-02T11:59:53Z human_phenotype HP:0031220 Increased radioactive iodine uptake HP:0031220 Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. 2017-07-02T12:00:25Z human_phenotype HP:0031221 Abnormal radioactive iodine uptake test result HP:0031221 The concentration of thyroxine-binding globulin in the blood circulation is above the upper limit of normal. 2017-07-02T12:03:22Z Elevated circulating thyroxine-binding globulin concentration Elevated thyroxine-binding globulin concentration Elevated thyroxine-binding globulin level Elevated thyroxine-binding globulin level in blood Increased thyroxine-binding globulin concentration Increased thyroxine-binding globulin level Increased thyroxine-binding globulin level in blood Thyroxine-binding globulin high in blood human_phenotype HP:0031222 Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation. Elevated circulating thyroxine-binding globulin concentration HP:0031222 Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. 2017-07-02T12:06:09Z human_phenotype HP:0031223 Focal pancreatic islet hyperplasia HP:0031223 Hyperplasia of the islets of Langerhans with a generalized distribution. 2017-07-02T12:06:09Z human_phenotype HP:0031224 Diffuse pancreatic islet hyperplasia HP:0031224 Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs. 2017-07-02T12:12:01Z Intrapulmonary shunting human_phenotype HP:0031225 Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions. Intrapulmonary shunt HP:0031225 An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. 2017-07-02T12:16:46Z human_phenotype HP:0031226 Perinephric fluid collection HP:0031226 An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography. PMID:12014928 A teratoma arising in the nasopharyngeal region. 2017-07-02T12:40:40Z human_phenotype HP:0031227 Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period. Nasopharyngeal teratoma HP:0031227 A teratoma arising in the nasopharyngeal region. PMID:23056797 An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. 2017-07-02T12:57:09Z human_phenotype HP:0031228 Abnormal incisura morphology HP:0031228 An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. PMID:20082456 The length of the incisura from the upper to lower border is greater than that observed in the average population. 2017-07-02T12:58:49Z human_phenotype HP:0031229 Increased incisura length HP:0031229 The length of the incisura from the upper to lower border is greater than that observed in the average population. PMID:20082456 The length of the incisura from the upper to lower border is less than that observed in the average population. 2017-07-02T13:00:15Z human_phenotype HP:0031230 Decreased incisura length HP:0031230 The length of the incisura from the upper to lower border is less than that observed in the average population. PMID:20082456 Width of the incisura from the anterior to posterior border less than that observed in the average population. 2017-07-02T13:00:49Z human_phenotype HP:0031231 Narrow incisura width HP:0031231 Width of the incisura from the anterior to posterior border less than that observed in the average population. PMID:20082456 Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. 2017-07-02T13:02:22Z human_phenotype HP:0031232 This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel. Increased incisura width HP:0031232 Breadth of the incisura from the anterior to posterior border greater than that observed in the average population. PMID:20082456 A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). 2017-07-02T13:23:17Z Squaring of the inferior scapulae Squaring of the scapula human_phenotype HP:0031233 Horizontal inferior border of scapula HP:0031233 A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). PMID:24706940 Squaring of the inferior scapulae A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). 2017-07-02T19:34:51Z human_phenotype HP:0031234 Neutrophilic infiltration of the skin HP:0031234 Collection of neutrophils in the epidermis. 2017-07-02T19:36:13Z human_phenotype HP:0031235 This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma. Predominantly epidermal neutrophilic infiltrate HP:0031235 Collection of neutrophils in the epidermis. PMID:17675728 Collection of neutrophils in the dermis. 2017-07-02T19:38:07Z human_phenotype HP:0031236 Predominantly dermal neutrophilic infiltrate HP:0031236 Collection of neutrophils in the dermis. PMID:17675728 An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. 2017-07-02T20:11:21Z Internally nucleated skeletal muscle fibres human_phenotype HP:0031237 A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Internally nucleated skeletal muscle fibers HP:0031237 An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. PMID:22938878 Internally nucleated skeletal muscle fibres A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. 2017-07-02T20:13:20Z Necklace skeletal muscle fibres human_phenotype HP:0031238 Necklace skeletal muscle fibers HP:0031238 A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. PMID:19084976 Necklace skeletal muscle fibres A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea. 2017-07-02T20:22:07Z human_phenotype HP:0031239 Extrafoveal choroidal neovascularization HP:0031239 A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea. 2017-07-02T21:26:56Z human_phenotype HP:0031240 Juxtafoveal choroidal neovascularization HP:0031240 A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea. 2017-07-02T21:27:51Z human_phenotype HP:0031241 Subfoveal choroidal neovascularization HP:0031241 Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. 2017-08-08T11:26:34Z Decreased circulating chylomicron levels Hypochylomicronemia human_phenotype HP:0031242 Decreased circulating chylomicron concentration HP:0031242 The concentration of very-low-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. 2017-08-08T11:27:32Z Decreased circulating VLDL-C concentration Decreased circulating very-low-density lipoprotein levels Decreased very-low-density lipoprotein cholesterol concentration Decreased very-low-density lipoprotein cholesterol level Decreased very-low-density lipoprotein cholesterol level in blood Reduced very-low-density lipoprotein cholesterol concentration Reduced very-low-density lipoprotein cholesterol level Reduced very-low-density lipoprotein cholesterol level in blood human_phenotype HP:0031243 Decreased circulating VLDL-C concentration HP:0031243 Enlargement of the lip typically due to fluid buildup or inflammation. 2017-08-12T13:02:05Z Edematous lip Lip swelling Swelling of the lip human_phenotype HP:0031244 Swollen lip HP:0031244 Enlargement of the lip typically due to fluid buildup or inflammation. https://orcid.org/0000-0001-5208-3432 A cough that produces phlegm or mucus. 2017-08-12T13:19:10Z Cough with mucus production Wet cough human_phenotype HP:0031245 Productive cough HP:0031245 Wet cough A cough that does not produce phlegm or mucus. 2017-08-12T13:19:10Z Dry cough Dry coughing human_phenotype HP:0031246 Nonproductive cough HP:0031246 Dry cough A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. 2017-08-12T13:22:51Z human_phenotype HP:0031247 The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease. Whooping cough HP:0031247 A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air. PMID:24219484 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. 2017-08-12T13:33:52Z Itchy palm human_phenotype HP:0031248 Palmar pruritus HP:0031248 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. https://orcid.org/0000-0001-5208-3432 Itchy palm A distortion of the sense of taste, often characterized by the sensation of a metallic taste. 2017-08-12T13:35:52Z Altered sense of taste Dysgeusia Metallic taste Metallic taste in mouth human_phenotype HP:0031249 Parageusia HP:0031249 A distortion of the sense of taste, often characterized by the sensation of a metallic taste. PMID:21075995 Altered sense of taste Metallic taste Metallic taste in mouth A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. 2017-08-12T15:27:51Z human_phenotype HP:0031250 Lip fissure HP:0031250 Any anomaly of a subclavian artery. 2017-08-12T15:35:44Z human_phenotype HP:0031251 The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery). Abnormal subclavian artery morphology HP:0031251 Abnormally increased caliber of the left subclavian artery. 2017-08-12T15:38:14Z human_phenotype HP:0031252 Dilated left subclavian artery HP:0031252 Origin of the left subclavian artery from an anomalous anatomical location. 2017-08-12T15:41:19Z human_phenotype HP:0031253 Anomalous origin of left subclavian artery HP:0031253 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. 2017-08-12T15:44:28Z human_phenotype HP:0031254 Thalamic arteriovenous malformation HP:0031254 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus. PMID:23125071 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. 2017-08-12T15:49:25Z human_phenotype HP:0031255 Hypothalamic arteriovenous malformation HP:0031255 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus. PMID:23125071 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. 2017-08-12T15:51:08Z human_phenotype HP:0031256 Optic nerve arteriovenous malformation HP:0031256 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve. PMID:23125071 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. 2017-08-12T15:53:52Z human_phenotype HP:0031257 This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla. Arteriovenous malformation of the maxilla HP:0031257 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla. PMID:17082338 PMID:23125071 A state of sudden and severe confusion. 2017-08-12T16:00:36Z Altered consciousness or cognition human_phenotype HP:0031258 Delirium HP:0031258 An inflammation of the ovary or ovaries. 2017-08-12T16:02:34Z Inflammed ovary human_phenotype HP:0031259 Oophoritis HP:0031259 Inflammed ovary A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. 2017-08-12T16:09:34Z human_phenotype HP:0031260 Triangular tibia HP:0031260 A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. PMID:18616733 An abnormal growth that projects from the mucous membrane of the urinary bladder. 2017-08-12T16:13:31Z human_phenotype HP:0031261 Bladder polyp HP:0031261 Any anomalous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. 2017-08-12T18:30:25Z human_phenotype HP:0031263 Abnormal renal corpuscle morphology HP:0031263 A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule. 2017-08-12T18:34:59Z Abnormal morphology of Bowman capsule Abnormal morphology of Bowman's capsule Abnormal renal glomerular capsule morphology human_phenotype HP:0031264 Abnormal Bowman capsule morphology HP:0031264 Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. 2017-08-12T18:36:29Z Abnormal podocyte morphology Abnormal visceral epithelial cell morphology human_phenotype HP:0031265 Podocytes (or visceral epithelial cells) are terminally differentiated cells lining the outer surface of the glomerular capillaries. As a major component of the ultrafiltration apparatus, podocytes have a complex cellular architecture consisting of cell body, major processes that extend outward from their cell body, forming interdigitated foot processes that enwrap the glomerular capillaries. Abnormal glomerular visceral epithelial cell morphology HP:0031265 Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary. PMID:10662721 PMID:26918173 An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. 2017-08-12T19:38:16Z Loss of primary podocyte processes human_phenotype HP:0031266 Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage. Podocyte foot process effacement HP:0031266 An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. PMID:23235479 Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. 2017-08-12T19:45:57Z human_phenotype HP:0031267 This feature can be measured by flow cytometry. Abnormal CD69 upregulation upon TCR activation HP:0031267 Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus. https://orcid.org/0000-0001-5208-3432 Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). 2017-08-12T19:50:21Z human_phenotype HP:0031268 Decreased CD69 upregulation upon TCR activation HP:0031268 Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). https://orcid.org/0000-0001-5208-3432 Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. 2017-08-12T19:51:36Z human_phenotype HP:0031269 Abnormal CD25 upregulation upon TCR activation HP:0031269 Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression. PMID:12121224 https://orcid.org/0000-0001-5208-3432 Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). 2017-08-12T20:02:57Z Poor CD25 upregulation upon TCR activation Reduced IL2RA upregulation upon TCR activation human_phenotype HP:0031270 Decreased CD25 upregulation upon TCR activation HP:0031270 Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR). https://orcid.org/0000-0001-5208-3432 The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination. 2017-08-12T20:39:39Z human_phenotype HP:0031271 While examining the pulse, the observer should note its intensity, rate, rhythm, and if any blood vessel tenderness, tortuosity, or nodularity exists. Absent ankle pulse HP:0031271 Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery. 2017-08-12T20:44:11Z human_phenotype HP:0031272 Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis. Pulmonary arterial atherosclerosis HP:0031272 The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. 2017-08-12T20:50:38Z human_phenotype HP:0031273 Shock HP:0031273 A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. 2017-08-12T20:57:43Z human_phenotype HP:0031274 Hypovolemic shock HP:0031274 A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage 2017-08-12T20:59:01Z human_phenotype HP:0031275 Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction. Distributive shock HP:0031275 A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage PMID:28238385 A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). 2017-08-12T21:01:37Z human_phenotype HP:0031276 Obstructive shock HP:0031276 A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism). PMID:28785436 Any structural anomaly of the thoracic duct. 2017-08-13T16:33:27Z human_phenotype HP:0031278 Abnormal thoracic duct morphology HP:0031278 An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). 2017-08-13T16:47:03Z Abnormal response to GnRH stimulation test human_phenotype HP:0031279 This test is regarded as the gold standard to identify central precocious puberty. Abnormal response to gonadotropin-releasing hormone stimulation test HP:0031279 An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH). PMID:22016677 Abnormal response to GnRH stimulation test An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. 2017-08-13T16:52:32Z human_phenotype HP:0031280 Increased LH response to gonadotropin-releasing hormone stimulation test HP:0031280 An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test. PMID:22016677 Inflammation of a salivary gland. 2017-08-13T17:06:09Z human_phenotype HP:0031281 Sialadenitis HP:0031281 A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. 2017-08-13T17:08:48Z human_phenotype HP:0031282 See Figure 1 of PMID:27171597. Malalignment of the great toenail HP:0031282 A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. PMID:27171597 The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice. 2017-08-13T17:39:57Z human_phenotype HP:0031283 Tufted hairs HP:0031283 Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. 2017-08-13T20:14:18Z human_phenotype HP:0031284 Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen. Flushing HP:0031284 Any structural anomaly in the areas surrounding the hair follicles. 2017-08-13T20:25:47Z human_phenotype HP:0031285 Abnormal perifollicular morphology HP:0031285 Redness surrounding the hair follicles. 2017-08-13T20:27:06Z human_phenotype HP:0031286 Perifollicular erythema HP:0031286 Redness surrounding the hair follicles. PMID:24574696 A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. 2017-08-13T20:33:04Z Basal cell papilloma Seborrheic verruca Senile wart human_phenotype HP:0031287 Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens. Seborrheic keratosis HP:0031287 Senile wart The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. 2017-08-13T20:43:09Z human_phenotype HP:0031288 Cobblestone-like hyperkeratosis HP:0031288 The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. PMID:18809899 A papule with white color. 2017-08-13T20:48:57Z human_phenotype HP:0031289 White papule HP:0031289 A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. 2017-08-13T21:03:22Z human_phenotype HP:0031290 Tuberous xanthoma HP:0031290 Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. 2017-08-13T21:18:38Z human_phenotype HP:0031291 Ichthyosis follicularis HP:0031291 Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. PMID:14708109 PMID:21600032 A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis). 2017-08-13T21:21:54Z Skin abscess human_phenotype HP:0031292 Cutaneous abscess HP:0031292 Skin abscess Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. 2017-08-13T21:25:54Z human_phenotype HP:0031293 Digital pitting scar HP:0031293 Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. PMID:8358096 Underdeveloped, small right heart atrium. 2017-08-13T21:36:55Z human_phenotype HP:0031294 Hypoplastic right atrium HP:0031294 Increase in size of the left atrium. 2017-08-13T21:38:04Z Fyler:3011 Fyler:3020 Enlarged heart left atrium human_phenotype HP:0031295 Left atrial enlargement HP:0031295 An abnormal increase in the thickness of the atrial septum. 2017-08-13T21:41:59Z human_phenotype HP:0031296 Atrial septal hypertrophy HP:0031296 An abnormal increase in the thickness of the atrial septum. PMID:12664819 HP:0011643 2017-08-13T21:44:35Z human_phenotype HP:0031297 obsolete Coronary sinus atrial septal defect true HP:0031297 Abnormal increase in size of the coronary sinus. 2017-08-13T21:47:43Z Coronary sinus dilatation Enlarged coronary sinus human_phenotype HP:0031298 The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus. Coronary sinus enlargement HP:0031298 An abnormal increase in magnitude of the pressure in the left atrium. 2017-08-13T21:54:47Z human_phenotype HP:0031299 Elevated left atrial pressure HP:0031299 Any deviation from the normal concentration of properdin in the blood circulation. 2017-08-13T22:01:48Z Abnormal circulating properdin concentration Abnormal properdin level human_phenotype HP:0031300 There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site. Abnormal circulating properdin concentration HP:0031300 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. 2017-08-26T20:56:01Z Peripheral artery calcification human_phenotype HP:0031301 Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index. A discussion on the ontological description of peripheral arterial calcification can be found here: https://github.com/obophenotype/human-phenotype-ontology/issues/6877. Peripheral arterial calcification HP:0031301 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall. PMID:24402839 PMID:26811161 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg. 2017-08-26T21:03:24Z Lower extremity peripheral artery calcification human_phenotype HP:0031302 GitHub issue: https://github.com/obophenotype/human-phenotype-ontology/issues/6877 Lower extremity peripheral arterial calcification HP:0031302 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. 2017-08-26T21:04:24Z human_phenotype HP:0031303 Femoral arterial calcification HP:0031303 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. 2017-08-26T21:05:02Z human_phenotype HP:0031304 Iliac arterial calcification HP:0031304 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. 2017-08-26T21:05:24Z human_phenotype HP:0031305 Tibial arterial calcification HP:0031305 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial). 2017-08-26T21:30:38Z human_phenotype HP:0031306 Intracranial arterial calcification HP:0031306 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery. 2017-08-26T21:32:35Z human_phenotype HP:0031307 Internal carotid artery calcification HP:0031307 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery. 2017-08-26T21:33:38Z human_phenotype HP:0031308 Vertebral artery calcification HP:0031308 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery. 2017-08-26T21:34:47Z human_phenotype HP:0031309 Cerebral artery calcification HP:0031309 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery. 2017-08-26T21:35:20Z human_phenotype HP:0031310 Basilar artery calcification HP:0031310 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery. 2017-08-26T21:36:18Z human_phenotype HP:0031311 Middle cerebral artery calcification HP:0031311 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. 2017-08-26T21:44:24Z human_phenotype HP:0031313 Abdominal aortic calcification HP:0031313 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. 2017-08-26T21:52:52Z human_phenotype HP:0031314 Carotid artery calcification HP:0031314 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery. 2017-08-26T21:53:48Z human_phenotype HP:0031315 External carotid artery calcification HP:0031315 A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle. 2017-08-27T11:43:31Z human_phenotype HP:0031316 Abnormal ventricular myocardium morphology HP:0031316 Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue. 2017-08-27T11:45:49Z Fatty infiltration of cardiac ventricle Intramyocardial fat infiltration human_phenotype HP:0031317 Fatty replacement of ventricular myocardial tissue HP:0031317 A nonparallel arrangement of cardiac myocytes. 2017-08-27T11:50:24Z Myocardial fiber disarray Myocardial fibre disarray human_phenotype HP:0031318 The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy. Myofiber disarray HP:0031318 A nonparallel arrangement of cardiac myocytes. PMID:7890275 Myocardial fibre disarray An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. 2017-08-27T11:58:21Z Myocyte cellular hypertrophy human_phenotype HP:0031319 Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy. Cardiomyocyte hypertrophy HP:0031319 An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. PMID:15066961 PMID:7626345 An abnormal increase in the number of mitochondria per cardiac myocyte. 2017-08-27T12:02:57Z human_phenotype HP:0031320 Cardiomyocyte mitochondrial proliferation HP:0031320 An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium). 2017-08-27T12:06:55Z human_phenotype HP:0031321 Myocardial immune cell infiltration HP:0031321 An increase in the number of lymphocytes in myocardial tissue. 2017-08-27T12:08:10Z human_phenotype HP:0031322 Myocardial lymphocytic infiltration HP:0031322 An increase in the number of eosinophils in myocardial tissue. 2017-08-27T12:08:48Z human_phenotype HP:0031323 Myocardial eosinophilic infiltration HP:0031323 The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. 2017-08-27T12:15:15Z human_phenotype HP:0031324 Myocardial multinucleated giant cells HP:0031324 The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin. PMID:26140040 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium. 2017-08-27T12:21:00Z human_phenotype HP:0031325 Myocardial granulomatous infiltrates HP:0031325 A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. 2017-08-27T12:23:49Z human_phenotype HP:0031326 Monoclonal light chain cardiac amyloidosis HP:0031326 A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry. PMID:28456755 A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. 2017-08-27T12:29:13Z TTR cardiac amyloidosis Transthyretin cardiac amyloidosis human_phenotype HP:0031327 Cardiac transthyretin amyloid deposition HP:0031327 A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining. PMID:22949539 TTR cardiac amyloidosis A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. 2017-08-27T12:38:28Z human_phenotype HP:0031328 Perivascular cardiac fibrosis HP:0031328 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces. PMID:10435025 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. 2017-08-27T12:39:54Z human_phenotype HP:0031329 Interstitial cardiac fibrosis HP:0031329 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. PMID:10435025 An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels. 2017-08-27T12:41:40Z human_phenotype HP:0031330 Perivascular myocardial immune cell infiltration HP:0031330 Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. 2017-08-27T12:50:02Z Abnormal cardiac muscle cell morphology human_phenotype HP:0031331 Abnormal cardiomyocyte morphology HP:0031331 Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris. 2017-08-27T12:54:33Z human_phenotype HP:0031332 Cardiomyocyte degeneration HP:0031332 A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. 2017-08-27T13:11:25Z Cardiac biopsy: myocyte disarray Cardiomyocyte disarray Myocardial sarcomere disarray human_phenotype HP:0031333 Myocardial sarcomeric disarray HP:0031333 A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes. PMID:22311886 PMID:7788887 Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes. 2017-08-27T13:18:12Z human_phenotype HP:0031334 Cardiomyocyte inclusion bodies HP:0031334 An anomaly of the structure of mitochondria within cardiomyocytes. 2017-08-27T13:21:27Z human_phenotype HP:0031335 Abnormal cardiomyocyte mitochondrial morphology HP:0031335 Abnormal localization of mitochondria within the nuclei of cardiomyocytes. 2017-08-27T13:30:13Z human_phenotype HP:0031336 Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria). Intranuclear cardiomyocyte mitochondria HP:0031336 Abnormal localization of mitochondria within the nuclei of cardiomyocytes. PMID:22948484 Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. 2017-08-27T13:35:38Z human_phenotype HP:0031337 Abnormal cardiomyocyte connexin43 staining HP:0031337 Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases. PMID:20167932 Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. 2017-08-27T13:39:34Z human_phenotype HP:0031338 Abnormal cardiomyocyte plakoglobin staining HP:0031338 Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes. PMID:25196244 Anomalous staining of dystrophin in cardiomyocytes. 2017-08-27T13:42:50Z human_phenotype HP:0031339 Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane. Abnormal cardiomyocyte dystrophin staining HP:0031339 Anomalous staining of dystrophin in cardiomyocytes. PMID:23330010 A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids. 2017-08-27T13:46:19Z human_phenotype HP:0031340 Abnormal lysosomal morphology HP:0031340 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach. 2017-08-27T13:53:06Z human_phenotype HP:0031341 Gastric arteriovenous malformation HP:0031341 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum. 2017-08-27T13:55:02Z human_phenotype HP:0031342 Duodenal arteriovenous malformation HP:0031342 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum. 2017-08-27T13:55:25Z human_phenotype HP:0031343 Jejunal arteriovenous malformation HP:0031343 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. 2017-08-27T13:56:39Z human_phenotype HP:0031344 Pelvic arteriovenous malformation HP:0031344 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis. PMID:11292918 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon. 2017-08-27T13:57:43Z human_phenotype HP:0031345 Colonic arteriovenous malformation HP:0031345 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum. 2017-08-27T13:59:03Z human_phenotype HP:0031346 Rectal arteriovenous malformation HP:0031346 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus. 2017-08-27T13:59:42Z human_phenotype HP:0031347 Uterine arteriovenous malformation HP:0031347 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. 2017-08-27T14:17:00Z Fyler:0700 Fyler:700 D-TGA D-loop transposition of the great arteries human_phenotype HP:0031348 Dextrotransposition of the great arteries HP:0031348 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. PMID:25082585 D-TGA HP:0011540 2017-08-27T14:19:14Z human_phenotype HP:0031349 obsolete Levotransposition of the great arteries true HP:0031349 A malignant soft tissue neoplasm that arises from the heart. 2017-08-27T14:27:33Z human_phenotype HP:0031350 Cardiac sarcoma HP:0031350 A malignant soft tissue neoplasm that arises from the heart. NCIT:C7723 A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. 2017-08-27T14:28:56Z Calcified amorphous tumour of the heart human_phenotype HP:0031351 Calcified amorphous tumor of the heart HP:0031351 A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue. PMID:24932362 Calcified amorphous tumour of the heart An unpleasant sensation of tightness or pressure in the chest. 2017-08-27T14:49:28Z Tightness in chest Tightness of chest human_phenotype Chest distress HP:0031352 Chest tightness HP:0031352 An unpleasant sensation of tightness or pressure in the chest. PMID:16990972 PMID:18405952 https://orcid.org/0000-0001-5208-3432 Otitis media characterized by thick or sticky fluid behind the tympanic membrane. 2017-08-27T14:53:18Z Fluid behind eardrum Middle ear effusions OME human_phenotype HP:0031353 Otitis media with effusion HP:0031353 Otitis media characterized by thick or sticky fluid behind the tympanic membrane. https://orcid.org/0000-0001-5208-3432 Fluid behind eardrum OME Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep. 2017-08-27T15:00:50Z Difficulty falling asleep Early insomnia Increased sleep latency Sleep onset insomnia Trouble falling asleep human_phenotype HP:0031354 Sleep onset insomnia HP:0031354 Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep. PMID:35460140 Difficulty falling asleep Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night. 2017-08-27T15:04:00Z Difficulty staying asleep Insomnia middle Middle insomnia Waking up several times during the night human_phenotype HP:0031355 Maintenance insomnia HP:0031355 Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night. PMID:35460140 Difficulty staying asleep Waking up several times during the night Waking up earlier than intended and being unable to return to sleep. 2017-08-27T15:04:51Z Early morning awakening Late insomnia Premature awakening human_phenotype HP:0031356 Terminal insomnia HP:0031356 Waking up earlier than intended and being unable to return to sleep. PMID:35460140 A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. 2017-08-27T15:44:04Z human_phenotype HP:0031357 Glomeruloid hemangioma HP:0031357 A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli. PMID:23716835 The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. 2017-08-27T15:49:29Z Unresponsive wakefulness human_phenotype HP:0031358 Vegetative state HP:0031358 The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities. PMID:18771395 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening). 2017-08-27T15:54:00Z human_phenotype HP:0031359 Cutaneous sclerotic plaque HP:0031359 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color. 2017-08-27T15:56:50Z human_phenotype HP:0031360 Yellow skin plaque HP:0031360 Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. 2017-08-27T16:00:15Z human_phenotype HP:0031361 Zebra bodies HP:0031361 Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images. PMID:28499424 HP:0000007 2017-08-29T11:43:01Z human_phenotype HP:0031362 obsolete Sex-limited autosomal recessive inheritance true HP:0031362 A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation). 2017-08-29T12:31:01Z human_phenotype HP:0031363 Palpable purpura HP:0031363 A purpuric lesion that is larger than 1 cm in diameter. 2017-08-29T12:32:57Z Ecchymoses human_phenotype HP:0031364 Ecchymosis HP:0031364 Ecchymoses Purpura that is flat (non-palpable, not raised). 2017-08-29T12:35:34Z Flat purpura human_phenotype HP:0031365 Macular purpura HP:0031365 A neoplasm that affects the hard palate, soft palate, or uvula. 2017-09-02T00:52:14Z human_phenotype HP:0031366 Palate neoplasm HP:0031366 A neoplasm that affects the hard palate, soft palate, or uvula. NCIT:C4402 Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). 2017-09-02T01:05:37Z Striated metaphysis human_phenotype HP:0031367 Metaphyseal striations HP:0031367 Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). PMID:18203204 A hole (perforation) in the wall of the intestine. 2017-09-02T01:23:22Z human_phenotype HP:0031368 Intestinal perforation HP:0031368 A hole (perforation) in the wall of the colon. 2017-09-02T01:29:52Z Perforation of the colon human_phenotype HP:0031369 Colon perforation HP:0031369 A hole (perforation) in the wall of the colon. PMID:22334860 A hole (perforation) in the wall of the small intestine. 2017-09-02T01:30:46Z human_phenotype HP:0031370 Small intestinal perforation HP:0031370 A hole (perforation) in the wall of the rectum. 2017-09-02T01:31:51Z human_phenotype HP:0031371 Rectal perforation HP:0031371 A hole (perforation) in the wall of the rectum. PMID:28290145 Increased muscle weakness upon exposure to cold temperatures. 2017-09-02T01:39:18Z human_phenotype HP:0031372 Cold paresis HP:0031372 Increased muscle weakness upon exposure to cold temperatures. PMID:20803025 Increased rigidity and reduced mobility of the tongue. 2017-09-02T01:42:21Z Tongue stiffness human_phenotype HP:0031373 Stiff tongue HP:0031373 Reduced strength of the muscles that lift or otherwise move the foot at the ankle. 2017-09-02T01:47:35Z human_phenotype HP:0031374 Ankle weakness HP:0031374 Applies to a sign or symptom that is difficult to treat or cure. 2017-09-02T01:54:32Z human_phenotype HP:0031375 Refractory HP:0031375 Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population. 2017-09-02T15:54:47Z human_phenotype HP:0031377 Abnormal cell proliferation HP:0031377 Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. 2017-09-02T15:55:37Z human_phenotype HP:0031378 Abnormal lymphocyte proliferation HP:0031378 Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population. 2017-09-02T15:56:23Z HP:0030253 Defective T cell proliferation human_phenotype HP:0031379 Abnormal T cell proliferation HP:0031379 Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. 2017-09-02T15:56:42Z human_phenotype HP:0031380 Abnormal B cell proliferation HP:0031380 Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories. 2017-09-02T15:57:05Z Decreased lymphocyte proliferation in response to mitogen Reduced lymphocyte proliferation to mitogen human_phenotype HP:0031381 A decreased proliferative response of T cells in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). Decreased mitogen-induced T-cell proliferation HP:0031381 Abnormal decrease of T cell proliferation in response to anti-CD3/28 stimulation. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation and strength of stimulation may vary between laboratories. 2017-09-02T15:57:46Z Decreased lymphocyte proliferation in response to anti-CD3 Defective lymphocyte proliferation to anti-CD3 Defective proliferation of lymphocytes following anti-CD3 stimulation human_phenotype HP:0031382 CD3 is the T-cell co-receptor. Decreased anti-CD3/28-induced T-cell proliferation HP:0031382 Abnormal amount of a protein that is normally present on the cell surface of lymphocytes. 2017-09-02T16:14:13Z human_phenotype HP:0031383 Abnormal lymphocyte surface marker expression HP:0031383 A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes. 2017-09-02T16:16:13Z human_phenotype HP:0031384 This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE. Reduced T cell CD40 expression HP:0031384 The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. 2017-09-02T16:33:22Z human_phenotype HP:0031385 Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome. Megakaryocyte nucleus hypolobulation HP:0031385 The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. PMID:27107657 The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. 2017-09-02T16:35:34Z human_phenotype HP:0031386 Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions. Increased micromegakaryocyte count HP:0031386 The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. PMID:27107657 The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. 2017-09-02T16:37:55Z human_phenotype HP:0031387 A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS. Increased multinucleated megakaryocyte count HP:0031387 The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow. PMID:27107657 The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. 2017-09-02T16:40:09Z human_phenotype HP:0031388 A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia. Megakaryocyte nucleus hyperlobulation HP:0031388 The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus. PMID:27107657 A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. 2017-09-02T17:00:16Z Abnormal human leukocyte antigen class II surface expression Abnormal major histocompatibility complex class II surface expression human_phenotype HP:0031389 Human Leukocyte Antigen (HLA) is the human-specific name for the Major Histocompatibility Complex (MHC). Abnormal MHC II cell surface expression HP:0031389 Expression of major histocompatibility complex class II molecules at the cell surface is below the lower limit of normal. 2017-09-02T17:00:49Z Abnormal HLA class II surface expression Reduced human leukocyte antigen class II surface expression human_phenotype HP:0031390 Reduced MHC II cell surface expression HP:0031390 An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface. 2017-09-02T17:02:46Z human_phenotype HP:0031391 Elevated MHC II cell surface expression HP:0031391 Abnormal increase or decrease of any CD4+ T cell subpopulation, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2017-09-02T17:05:31Z HP:0025620 HP:0500263 HP:0500267 Abnormal CD4+ T cell subset Abnormal CD4+ T cell subsets Abnormal helper T cell proportion Abnormal proportion of CD4+ T cells Abnormal proportion of CD4-positive T cells Abnormal proportion of CD4-positive helper T cells Abnormal proportion of CD4-positive, alpha-beta T cells Abnormal proportion of circulating T-helper cells human_phenotype HP:0031392 Abnormal CD4+ T cell subset proportion HP:0031392 Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2017-09-02T17:06:06Z Abnormal proportion of CD8+ T cells Abnormal proportion of CD8-positive T cells Abnormal proportion of CD8-positive, alpha-beta T cells human_phenotype HP:0031393 Absolute counts (cells per microliter) and proportions (percentage of lymphocytes or of a parent subset) capture different information, so clinical practice uses whichever is validated for a given decision. Some thresholds are count-based (e.g. Pneumocystis prophylaxis in adults); others rest on a proportion or on both, as in the SCID definition, which combines an absolute T-cell count with a naive-CD4 proportion. The choice is also age-dependent, since absolute counts vary with age more than percentages do, so percentages are often preferred in young children. Because a count equals a proportion multiplied by the total lymphocyte number, the two can dissociate: a normal proportion may accompany a low absolute count when total lymphocytes are low, and that dissociation can itself be informative. Abnormal total CD8+ T cell number HP:0031393 Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. 2017-09-02T17:06:44Z human_phenotype HP:0031394 CD4 helper/inducer cells and CD8 cytotoxic/suppressor cells are 2 phenotypes of T lymphocytes, characterized by distinct surface markers and functions that mostly reside in lymph nodes but also circulate in the blood. The normal CD4/CD8 ratio in healthy hosts is poorly defined. Ratios between 1.5 and 2.5 are generally considered normal; however, a wide heterogeneity exists because sex, age, ethnicity, genetics, exposures, and infections may all impact the ratio. Abnormal CD4:CD8 ratio HP:0031394 Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. PMID:29095912 Any abnormality in the proportion of naive T cells relative to the total number of T cells. 2017-09-03T12:46:29Z Abnormal proportion of naive T cells Abnormal proportion of naive thymus-derived, alpha-beta T cells human_phenotype HP:0031396 Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation. Abnormal naive T cell proportion HP:0031396 Any abnormality in the proportion of naive T cells relative to the total number of T cells. PMID:12133935 An abnormally decreased proportion of naive T cells relative to the total number of T cells. 2017-09-03T12:53:09Z Decreased proportion of naive T cells Decreased proportion of naive thymus-derived, alpha-beta T cells Reduced proportion of naive T cells human_phenotype HP:0031397 Decreased naive T cell proportion HP:0031397 An abnormally decreased proportion of naive T cells relative to the total number of T cells. PMID:12133935 https://orcid.org/0000-0002-0736-9199 An abnormally increased proportion of naive T cells relative to the total number of T cells. 2017-09-03T12:53:42Z Elevated proportion of naive T cells Increased proportion of naive T cells Increased proportion of naive thymus-derived, alpha-beta T cells human_phenotype HP:0031398 Increased naive T cell proportion HP:0031398 An abnormally increased proportion of naive T cells relative to the total number of T cells. PMID:12133935 Abnormal increase or decrease of double-negative (DN) CD3+CD4-CD8- T cells, measured either as percentage of total CD3+ T cells in the blood, or as absolute number per microliter of blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2017-09-03T12:57:22Z Abnormal CD4-negative, CD8-negative regulatory T cell distribution Abnormal DN Treg distribution Abnormal Double negative Treg distribution Abnormal double-negative regulatory T cell distribution Abnormal proportion of double-negative regulatory T cell human_phenotype HP:0031399 T lymphocytes bearing the T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e., TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs). Abnormal double-negative T cell proportion HP:0031399 Abnormal increase or decrease of double-negative (DN) CD3+CD4-CD8- T cells, measured either as percentage of total CD3+ T cells in the blood, or as absolute number per microliter of blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. PMID:16285891 PMID:22294241 Abnormal decrease of double negative (DN) CD3+CD4-CD8- T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2017-09-03T13:02:44Z Reduced proportion of CD4-negative, CD8-negative T cells human_phenotype HP:0031401 Decreased double-negative T cell number HP:0031401 Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. 2017-09-03T15:31:43Z Impaired cellular adaptive immune response Antigen-specific T cell proliferation defect Impaired Ag-specific T cell proliferation Impaired activated T cell proliferation Reduced antigen-specific T cell proliferation human_phenotype HP:0031402 Decreased antigen-specific T cell proliferation HP:0031402 Impaired Ag-specific T cell proliferation Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. 2017-09-03T15:35:22Z Pathogen-specific CD8 cytoxicity defect human_phenotype HP:0031403 Impaired pathogen-specific CD8 cytoxicity HP:0031403 Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors. PMID:11911826 An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). 2017-09-03T15:36:45Z Impaired adaptive immune response human_phenotype HP:0031404 Impaired antigen-specific response HP:0031404 A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. 2017-09-03T15:57:11Z human_phenotype HP:0031405 Poroma HP:0031405 A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. NCIT:C27273 Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. 2017-09-03T15:59:36Z Abnormal cytokine signalling human_phenotype HP:0031406 Abnormal cytokine signaling HP:0031406 Abnormal cytokine signalling A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. 2017-09-03T16:00:18Z Cytokine signaling defect Cytokine signalling defect Impaired cytokine signalling human_phenotype HP:0031407 Impaired cytokine signaling HP:0031407 Cytokine signalling defect Impaired cytokine signalling An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). 2017-09-04T11:55:41Z human_phenotype HP:0031408 Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive. Aberrant expression of CD2 and/or CD25 by bone marrow, peripheral blood or other extracutaneous tissue mast cells is currently used as a minor World Health Organization diagnostic criterion for systemic mastocytosis. CD25 expression alone presented a similar sensitivity (100%) with a slightly higher specificity (99.2%). Increased CD25+ mast cell proportion HP:0031408 An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). PMID:15371947 PMID:18684881 PMID:22222639 Any anomaly of lymphocyte function. 2017-09-04T12:08:45Z human_phenotype HP:0031409 Abnormal lymphocyte physiology HP:0031409 An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. 2017-09-04T12:15:25Z Abnormal distribution of CD56 bright/dim NK cells human_phenotype HP:0031410 The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules. Abnormal distribution of CD56 bright/dim natural killer cells HP:0031410 An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells. PMID:19278419 Abnormal distribution of CD56 bright/dim NK cells Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order. 2017-09-04T15:22:36Z Fyler:4013 human_phenotype HP:0031411 Abnormal chromosome morphology HP:0031411 2017-09-04T15:24:23Z human_phenotype HP:0031412 Abnormal telomere morphology HP:0031412 An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. 2017-09-04T17:14:08Z human_phenotype HP:0031413 Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age. Short telomere length HP:0031413 The concentration of calcifediol in the blood concentration is above the upper limit of normal. 2017-09-12T01:49:36Z High serum 25-hydroxycholecalciferol High serum calcidiol High serum calcifediol human_phenotype HP:0031414 Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3. Elevated circulating calcifediol concentration HP:0031414 The concentration of calcifediol in the blood concentration is above the upper limit of normal. HPO_CONTRIBUTOR:RGD_sjwang The concentration of calcitriol in the blood circulation is above the upper limit of normal. 2017-09-12T01:53:03Z HP:0003152 UMLS:C1833331 High serum 1,25-dihydroxycholecalciferol High serum 1,25-dihydroxyvitamin D3 High serum calcitriol Increased serum 1,25-dihydroxyvitamin D3 Increased serum calcitriol human_phenotype HP:0031415 Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. Elevated circulating calcitriol concentration HP:0031415 The concentration of calcitriol in the blood circulation is above the upper limit of normal. HPO_CONTRIBUTOR:RGD_sjwang PMID:24246681 Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose. 2017-09-12T02:03:01Z human_phenotype HP:0031416 Abnormal nasal mucus secretion HP:0031416 Increased discharge of mucus from the nose. 2017-09-12T02:06:56Z Nasal Discharge Runny Nose human_phenotype HP:0031417 Rhinorrhea HP:0031417 Nasal Discharge Runny Nose Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. 2017-09-12T02:12:54Z Increased BMI human_phenotype HP:0031418 Increased body mass index HP:0031418 Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. PMID:17973940 Increased BMI The concentration of sex hormone-binding globulin in the blood circulation is below the lower limit of normal. 2017-09-12T02:20:36Z Decreased circulating sex hormone-binding globulin concentration Decreased sex hormone-binding globulin concentration Decreased sex hormone-binding globulin level Decreased sex hormone-binding globulin level in blood Reduced androgen-binding protein level Reduced sex hormone-binding globulin concentration Reduced sex hormone-binding globulin level Reduced sex hormone-binding globulin level in blood human_phenotype HP:0031419 Sex hormone binding globulin (NCBI Gene 6462) is also known as sex hormone binding protein and androgen binding protein. Decreased circulating sex hormone-binding globulin concentration HP:0031419 A lesion that is observed acutely following light damage to the macula, typically smaller than 200 micrometers. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Such lesions can also be laser-induced. 2017-09-12T02:33:25Z Small yellow foveal lesion with surrounding gray zone Small yellow foveal lesion with surrounding grey zone human_phenotype Laser pointer-induced maculopathy Laser pointer-induced retinopathy Light induced retinopathy Photic retinopathy Solar retinitis Solar retinopathy HP:0031420 Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow/white spot with a surrounding gray zone in the foveal or macular area. Spontaneous evolution may lead to the improvement of visual acuity. Whereas most of these lesions will be caused by photic damages, they can also be caused by toxic damages, such as in popper maculopathy, or when nitreous/nitric Oxide containing substance. Small yellow/white macular lesion HP:0031420 A lesion that is observed acutely following light damage to the macula, typically smaller than 200 micrometers. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Such lesions can also be laser-induced. PMID:25323644 PMID:28611647 https://orcid.org/0000-0002-2244-7917 Small yellow foveal lesion with surrounding grey zone Reduced size of the superior frontal portion of the cerebral cortex. 2017-09-16T11:11:18Z human_phenotype HP:0031421 Small superior frontal cortex HP:0031421 Reduced size of the superior frontal portion of the cerebral cortex. HPO_CONTRIBUTOR:RGD_gth Any structural anomaly of the cortex of the cerebellum. 2017-09-16T11:13:15Z Abnormal morphology of the cerebellar cortex human_phenotype HP:0031422 Abnormal cerebellar cortex morphology HP:0031422 Reduced size of the cerebellar cortex. 2017-09-16T11:14:43Z human_phenotype HP:0031423 Small cerebellar cortex HP:0031423 Reduced size of the cerebellar cortex. HPO_CONTRIBUTOR:RGD_gth Any deviation from the normal concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation. 2017-09-16T11:18:31Z Abnormal circulating beta-C-terminal telopeptide level Abnormal circulating beta-CTx level Abnormal circulating beta-CrossLaps level human_phenotype HP:0031424 Beta-C-terminal telopeptide of type I collagen in the blood circulation is a marker of the rate of bone turnover. Abnormal circulating beta-CTX concentration HP:0031424 Abnormal circulating beta-CTx level The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is above the upper limit of normal. 2017-09-16T11:22:41Z Increased circulating beta-C-terminal telopeptide level Increased circulating beta-CTx level Increased circulating beta-CrossLaps level human_phenotype HP:0031425 Elevated circulating beta-CTX concentration HP:0031425 The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is below the lower limit of normal. 2017-09-16T11:22:56Z Decreased circulating beta-C-terminal telopeptide level Decreased circulating beta-CTx level Decreased circulating beta-CrossLaps level human_phenotype HP:0031426 Decreased circulating beta-CTX concentration HP:0031426 A deviation from the normal concentration of osteocalcin in the blood circulation. 2017-09-16T11:25:47Z human_phenotype HP:0031427 Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis. Abnormal circulating osteocalcin level HP:0031427 A deviation from the normal concentration of osteocalcin in the blood circulation. HPO_CONTRIBUTOR:RGD_sjwang PMID:23737779 PMID:25577163 An elevated level of osteocalcin in the blood. 2017-09-16T11:32:28Z human_phenotype HP:0031428 Increased circulating osteocalcin level HP:0031428 An elevated level of osteocalcin in the blood. HPO_CONTRIBUTOR:RGD_sjwang A reduced level of osteocalcin in the blood. 2017-09-16T11:33:11Z human_phenotype HP:0031429 Decreased circulating osteocalcin level HP:0031429 A reduced level of osteocalcin in the blood. HPO_CONTRIBUTOR:RGD_sjwang The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones. 2017-09-16T12:00:57Z human_phenotype HP:0031430 Oligoclonal T cell expansion HP:0031430 Repetition of sounds with no meaning. 2017-09-16T12:14:57Z human_phenotype HP:0031431 Persistent repetition of sounds HP:0031431 A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions. 2017-09-16T12:17:41Z human_phenotype HP:0031432 Simple motor stereotypies often involve rhythmic or repetitive movements of specific components of the body including upper extremities or head and face, whereas more complex repetitive movements often include whole body movements (e.g., body rocking, self-hugging). Restricted or repetitive behaviors or interests HP:0031432 Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one's feelings. 2017-09-16T12:21:45Z HP:5200122 Unaware of others' emotions human_phenotype HP:0031433 Whereas implicit (e.g., physiological arousal) and explicit (e.g., self-reported emotion intensity) indicators of emotional reactivity tend to be highly associated in healthy volunteers, in alexithymia there is a decoupling of implicit and explicit emotional responses Alexithymia may manifest as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others. Alexithymia HP:0031433 Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one's feelings. PMID:34389125 Unaware of others' emotions Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa). 2017-09-16T12:34:05Z human_phenotype HP:0031434 Abnormal prosody refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa). Abnormal prosody HP:0031434 A speech pattern characterized by a persistently abnormal lack of tone in the voice. Monotonic speech is typically ongoing, lasting throughout the day, but may have a diurnal variation in the pattern, i.e. slower at specific times of the day. 2017-09-16T12:36:08Z Flat speech human_phenotype HP:0031435 Often accompanied by reduced variation of rate and rhythm. Monotonic speech HP:0031435 A speech pattern characterized by abnormal fluctuations in the pitch of the voice. 2017-09-16T12:39:11Z Melodic speech Sing song intonation Sing-song intonation human_phenotype HP:0031436 Often accompanied by altered speech rate and rhythm. Singsong Intonation HP:0031436 Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. 2017-09-16T13:01:58Z Exposure during pregnancy human_phenotype HP:0031437 Pregnancy exposure HP:0031437 Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. https://orcid.org/0000-0002-6387-4317 Any deviation from the normal concentration of sex hormone-binding globulin in the blood circulation. 2017-09-17T12:29:14Z Abnormal circulating sex hormone-binding globulin concentration Abnormal sex hormone-binding globulin level human_phenotype HP:0031438 Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones. Abnormal circulating sex hormone-binding globulin concentration HP:0031438 Any deviation from the normal concentration of angiostatin in the blood circulation. 2017-09-17T12:31:51Z human_phenotype HP:0031439 Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis. Abnormal circulating angiostatin concentration HP:0031439 HP:0001702 2017-09-17T09:54:19Z human_phenotype HP:0031440 obsolete Abnormal tricuspid valve morphology true HP:0031440 Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. 2017-09-17T13:06:49Z human_phenotype HP:0031441 Abnormal tricuspid valve annulus morphology HP:0031441 Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve. 2017-09-17T13:37:09Z human_phenotype HP:0031442 Abnormal tricuspid chordae tendinae morphology HP:0031442 Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve. 2017-09-17T13:42:38Z human_phenotype HP:0031443 Abnormal tricuspid valve leaflet morphology HP:0031443 An increase in the diameter of the ring (annulus) of the tricuspid valve. 2017-09-17T13:52:05Z human_phenotype HP:0031444 Dilatation of the tricuspid annulus HP:0031444 An increase in the diameter of the ring (annulus) of the tricuspid valve. PMID:3958362 A palpable, solid lesion greater than 5mm in diameter that is located in the mucosa of the mouth. 2017-09-17T14:16:57Z human_phenotype HP:0031445 Oral mucosa nodule HP:0031445 Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. 2017-09-17T14:19:12Z human_phenotype HP:0031446 Erosion of oral mucosa HP:0031446 Multiple pigmented macules located on the skin of the penis. 2017-09-17T14:28:54Z human_phenotype HP:0031447 Penile freckling HP:0031447 Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles. 2017-09-17T14:44:17Z human_phenotype HP:0031448 Herpetiform vesicles HP:0031448 Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals. 2017-09-17T14:49:42Z human_phenotype HP:0031449 Perineal hemangioma HP:0031449 A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge. 2017-09-17T15:00:02Z human_phenotype HP:0031450 Polycyclic HP:0031450 An abnormal increase in the amount of subcutaneous fat in the legs. 2017-09-17T15:21:32Z human_phenotype HP:0031451 Lower extremity subcutanous fat hypertrophy HP:0031451 An abnormal increase in the amount of subcutaneous fat in the legs. PMID:24788242 Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. 2017-09-17T15:34:38Z human_phenotype HP:0031452 Lichenoid skin lesion HP:0031452 Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. PMID:22356325 Multiple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. 2017-09-17T15:39:38Z human_phenotype HP:0031453 Oral lichenoid lesion HP:0031453 Multiple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions. PMID:22356325 A cystic lesions that forms a benign tumor of an apocrine sweat gland. 2017-09-17T15:50:31Z human_phenotype HP:0031454 Apocrine hidrocystoma HP:0031454 A cystic lesions that forms a benign tumor of an apocrine sweat gland. NCIT:C43342 PMID:17406184 A gangioleneuroma originating from sympathetic ganglion cells in the abdomen. 2017-09-17T15:53:08Z human_phenotype HP:0031455 Presacral ganglioneuroma HP:0031455 A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). 2017-09-17T15:55:36Z human_phenotype HP:0031456 Ectopic pregnancy HP:0031456 Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. 2017-09-17T15:59:06Z human_phenotype HP:0031457 Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung. Pulmonary opacity HP:0031457 Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. PMID:18195376 An inflammation of the adenoid tissue. 2017-09-17T16:02:03Z human_phenotype HP:0031458 Adenoiditis is usually caused by an infection. Adenoiditis HP:0031458 A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. 2017-09-17T16:05:40Z human_phenotype HP:0031459 Soft tissue neoplasm HP:0031459 A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. NCIT:C3377 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. 2017-09-17T16:08:33Z human_phenotype HP:0031460 Benign muscle neoplasm HP:0031460 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882]. NCIT:C4882 A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. 2017-09-17T16:09:34Z IM Myxoma human_phenotype HP:0031461 Intramuscular myxoma HP:0031461 A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy. PMID:27298930 IM Myxoma Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue. 2017-09-17T16:13:40Z human_phenotype HP:0031462 Musculotendinous retraction HP:0031462 A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. 2017-09-17T16:18:41Z human_phenotype HP:0031463 Esophageal squamous papilloma HP:0031463 A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia. NCIT:C5344 PMID:27134598 The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. 2017-09-17T16:21:13Z human_phenotype HP:0031464 Genital blistering HP:0031464 A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. 2017-09-17T16:23:44Z human_phenotype HP:0031465 Abnormal vasa vasorum morphology HP:0031465 A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products. PMID:26006236 A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. 2017-09-17T16:30:45Z human_phenotype HP:0031466 The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. Impairment in personality functioning HP:0031466 A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. PMID:23902698 An emotional state characterized by excessive, persistent, or contextually inappropriate negative inner experiences involving emotional arousal and valence. These experiences are often associated with negative perceptions of the self, the future, the past, or the surrounding environment, and may include affective bias such as interpreting neutral or ambiguous stimuli as negative. The intensity, duration, or impact of the state exceeds what would be expected for the individual based on their baseline emotional functioning, the context, cultural norms, or situational triggers, or when it persists despite efforts at self-regulation. 2017-09-17T16:33:45Z Mood dysregulation Feeling bad Feeling out of sorts Foul mood Gloomy mood In a funk Negative attitude human_phenotype HP:0031467 Manifestations may be conveyed through self-report or observed through behavior, allowing applicability across the lifespan and in individuals with limited verbal communication. This term refers to an observed negative emotional state rather than enduring traits of personality or temperament. Dysregulated negative emotional state HP:0031467 An emotional state characterized by excessive, persistent, or contextually inappropriate negative inner experiences involving emotional arousal and valence. These experiences are often associated with negative perceptions of the self, the future, the past, or the surrounding environment, and may include affective bias such as interpreting neutral or ambiguous stimuli as negative. The intensity, duration, or impact of the state exceeds what would be expected for the individual based on their baseline emotional functioning, the context, cultural norms, or situational triggers, or when it persists despite efforts at self-regulation. PMID:27732016 PMID:36104987 Feeling bad Feeling out of sorts Foul mood Gloomy mood In a funk Negative attitude Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy. 2017-09-17T16:39:37Z human_phenotype HP:0031468 Separation insecurity HP:0031468 Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group. 2017-09-17T16:41:58Z Worthlessness human_phenotype HP:0031469 Low self-esteem HP:0031469 Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, and include physical, health-related, and financial behaviors. It involves a disregard for one's limitations and a denial of personal danger. While consequences may not occur, the risks are high (e.g. driving too fast, unprotected casual sex, or risky investments). 2017-09-17T16:44:22Z human_phenotype HP:0031472 Risky behavior HP:0031472 A state of excessive negative emotional reactivity characterized by strong feelings of hostility or antagonism typically in response to perceived provocation. It is often accompanied by physiological arousal (e.g., increased heart rate, muscle tension, or activation of the sympathetic nervous system) and expressions of blame, perceived injustice, or judgment. The experience of anger may be directed outwardly toward individuals, groups, objects, or abstract entities, or inwardly toward oneself. 2017-09-17T16:45:08Z Extreme hostility Furious Fury Rage Unmanaged hostility Wrath Boiling mad Hostile Hostility Pissed off Explosive temper Hostile outbursts Prolonged resentment Resentment human_phenotype HP:0031473 Anger is a human emotion with evolutionary relevance to the reaction to threats and serves to prioritize or coordinate responses. The subjective experience of anger is ubiquitous in psychiatric conditions and not a specific, nor a necessary component, of any one condition or psychopathological state. Disruptions in personal, social, or occupational functioning or behaviors are associated with an inability to internally regulate anger. Anger HP:0031473 A state of excessive negative emotional reactivity characterized by strong feelings of hostility or antagonism typically in response to perceived provocation. It is often accompanied by physiological arousal (e.g., increased heart rate, muscle tension, or activation of the sympathetic nervous system) and expressions of blame, perceived injustice, or judgment. The experience of anger may be directed outwardly toward individuals, groups, objects, or abstract entities, or inwardly toward oneself. PMID:1521100 PMID:31809773 Furious Boiling mad Hostile Hostility Pissed off A benign cartilaginous tumors of the lung. 2017-09-17T16:50:53Z human_phenotype HP:0031474 Pulmonary chondroma HP:0031474 A benign cartilaginous tumors of the lung. PMID:27602219 There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. 2017-09-17T16:57:40Z Nonconvulsive status epilepticus human_phenotype HP:0031475 Status epilepticus without prominent motor symptoms HP:0031475 There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. PMID:17805245 PMID:22528274 PMID:26336950 https://orcid.org/0000-0002-1735-8178 Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells). 2017-09-17T22:04:47Z human_phenotype HP:0031476 Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart. Abnormal buccal mucosa cell morphology HP:0031476 HP:0001633 2017-09-17T18:35:42Z human_phenotype HP:0031477 obsolete Abnormal mitral valve morphology true HP:0031477 Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach. 2017-09-17T22:28:08Z human_phenotype HP:0031478 Abnormal mitral valve annulus morphology HP:0031478 An increase in the diameter of the ring (annulus) of the mitral valve. 2017-09-17T22:28:40Z human_phenotype HP:0031479 Dilatation of the mitral annulus HP:0031479 Any structural anomaly of the leaflets (also known as cusps) of the mitral valve. 2017-09-17T22:30:47Z human_phenotype HP:0031480 Abnormal mitral valve leaflet morphology HP:0031480 Any functional anomaly of the mitral valve. 2017-09-17T22:37:40Z human_phenotype HP:0031481 Abnormal mitral valve physiology HP:0031481 A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle. 2017-09-17T22:44:18Z human_phenotype HP:0031482 Abnormal regional left ventricular contraction HP:0031482 Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. 2017-09-17T22:45:37Z Left ventricular apical hypokinesis human_phenotype HP:0031483 Reduced contraction of the left ventricular apex HP:0031483 Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography. PMID:8077532 A form of hemolytic anemia that can be triggered by cold temperatures. 2017-09-17T23:00:31Z human_phenotype HP:0031484 Cold-induced hemolysis HP:0031484 The formation of new bone along the cortex and underneath the periosteum of a bone. 2017-09-17T23:02:59Z Periosteal reaction human_phenotype HP:0031485 Subperiosteal bone formation HP:0031485 An anomaly of blood vessels located in the lip. 2017-09-18T00:21:32Z human_phenotype HP:0031486 Vascular malformation of the lip HP:0031486 A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis. 2017-09-18T00:22:25Z human_phenotype HP:0031487 Capillary malformation of the lip HP:0031487 A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. 2017-09-18T00:24:29Z Atypical connection between arteries and veins human_phenotype HP:0031488 Arteriovenous malformation of the lip HP:0031488 A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus. PMID:26618117 Atypical connection between arteries and veins https://orcid.org/0000-0002-6548-5200 A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. 2017-09-18T00:26:17Z human_phenotype HP:0031489 Venous malformation of the lip HP:0031489 A vascular malformation located in the lip that is related to abnormal vascular morphogenesis. PMID:26618117 A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. 2017-09-18T00:28:28Z human_phenotype HP:0031490 Hemangioma of the lip HP:0031490 A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. PMID:26618117 Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. 2017-09-18T00:34:28Z CSWS Electrical status epilepticus during slow-wave sleep human_phenotype HP:0031491 Continuous spike and waves during slow sleep HP:0031491 Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. PMID:1918335 PMID:28654799 CSWS A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. 2017-09-18T00:40:36Z human_phenotype HP:0031492 Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. Epithelial neoplasm HP:0031492 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709]. NCIT:C3709 A tumor that arises from a gland cell. 2017-09-18T00:42:25Z human_phenotype HP:0031493 Glandular cell neoplasm HP:0031493 A tumor that arises from a gland cell. NCIT:C7132 Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. 2017-09-18T00:44:01Z Mucinous neoplasm of the ovary Ovarian mucinous tumour human_phenotype HP:0031494 Ovarian mucinous tumor HP:0031494 Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma. PMID:24777667 Ovarian mucinous tumour 2017-09-18T00:48:22Z human_phenotype HP:0031495 Mucinous neoplasm HP:0031495 Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. 2017-09-18T00:49:14Z human_phenotype HP:0031496 Mucinous cystic neoplasm of the pancreas HP:0031496 Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma. NCIT:C41247 PMID:21128317 A subtype of colorectal carcinoma with mucin lakes. 2017-09-18T00:52:44Z human_phenotype HP:0031497 Mucinous colorectal carcinoma HP:0031497 A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. 2017-09-18T00:55:23Z human_phenotype HP:0031498 Mucinous gastric carcinoma HP:0031498 A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor. PMID:28501848 An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. 2017-09-18T00:59:06Z human_phenotype HP:0031499 Appendiceal mucinous neoplasm HP:0031499 An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles. PMID:23439060 An abnormal enlargement or swelling in the abdomen. 2017-09-18T01:02:07Z human_phenotype HP:0031500 Abdominal mass HP:0031500 An abnormal enlargement or swelling in the pelvic region. 2017-09-18T01:03:03Z human_phenotype HP:0031501 Pelvic mass HP:0031501 A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. 2017-09-18T01:07:36Z Trophoblastic tumour human_phenotype HP:0031502 Trophoblastic tumor HP:0031502 A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422]. NCIT:C3422 Trophoblastic tumour Waking up at night gasping for breath. 2017-09-18T01:14:49Z human_phenotype HP:0031503 Night gasping HP:0031503 Urine has an increased amount of frothy fine bubbles. 2017-09-18T01:16:55Z Frothy urine human_phenotype HP:0031504 Foamy urine HP:0031504 A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). 2017-09-21T01:52:52Z Abnormal circulating T4 level Abnormal circulating thyroxine level human_phenotype HP:0031505 Abnormal circulating T4 concentration HP:0031505 An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). 2017-09-21T01:54:51Z Increased circulating T4 level Increased circulating thyroxine level human_phenotype HP:0031506 Increased circulating T4 concentration HP:0031506 A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). 2017-09-21T01:55:27Z Decreased circulating T4 level Decreased circulating thyroxine level Reduced T4 plasma level human_phenotype HP:0031507 Decreased circulating T4 concentration HP:0031507 Reduced T4 plasma level Any deviation from the normal range of the hormones produced by the thyroid gland. 2017-09-21T01:56:23Z Abnormal thyroid hormone level human_phenotype HP:0031508 Thyroid hormones (TH) are involved in the regulation of metabolism, proliferation, and growth of most tissues. Serum TH levels are tightly controlled by the hypothalamic, pituitary, and thyroid (HPT) axis to deliver appropriate amounts of TH to target tissues. The two major THs (T3 and T4) are iodothyrosines synthesized by the thyroid gland under the control of thyrotropin/thyroid stimulating hormone (TSH), a glycoprotein heterodimer that is produced by the pituitary gland. TSH, in turn, is regulated by thyrotropin releasing hormone (TRH), a tripeptide generated by the hypothalamus that is released into its own portal system to reach the pituitary. Both the production of TRH and TSH are under negative feedback control determined by the circulating free TH concentrations. Abnormal circulating thyroid hormone concentration HP:0031508 Any deviation from the normal range of the hormones produced by the thyroid gland. PMID:28932413 Abnormally dry skin in the area of the nipple of the breast. 2017-09-21T02:19:46Z human_phenotype HP:0031509 Dry nipple HP:0031509 A transverse linear fissure (crease) in the lobule of the ear. 2017-09-21T03:01:32Z human_phenotype HP:0031510 This feature may be observed in Beckwith Wiedemann syndrome. Linear earlobe crease HP:0031510 Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. 2017-09-21T03:03:14Z human_phenotype HP:0031511 Diagonal earlobe crease HP:0031511 Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees. PMID:2713193 2017-09-22T01:31:38Z human_phenotype HP:0031512 An anomaly of the collagen fibers located in the skin. Abnormal cutaneous collagen fibril morphology HP:0031512 Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands. 2017-09-22T01:34:13Z human_phenotype HP:0031513 The periodicity of normal collagen fibers is substantially lower than that of Luse bodies. Luse bodies HP:0031513 An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. 2017-09-22T02:12:49Z human_phenotype HP:0031514 Increased exhausted T cell proportion HP:0031514 An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. PMID:26544946 Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells. 2017-09-22T02:18:52Z human_phenotype HP:0031515 Abnormal meiosis HP:0031515 Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. 2017-09-22T02:21:05Z Metaphase I oocyte meiotic arrest Oocyte arrest at metaphase I Oocyte meiotic arrest at metaphase I human_phenotype HP:0031516 An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization.Failure of oocytes to progress beyond metaphase I of meiosis. Metaphase I oocyte maturation arrest HP:0031516 Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. PMID:27273344 PMID:32473092 A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. 2017-09-22T02:25:50Z human_phenotype HP:0031517 This lesion is seen chiefly in the oral mucosa. Verruciform xanthoma HP:0031517 A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms. PMID:24574658 Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. 2017-09-22T02:28:47Z human_phenotype HP:0031518 Absent posterior alpha rhythm HP:0031518 Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above. PMID:24574560 An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. 2017-09-22T02:32:20Z human_phenotype HP:0031519 Cauliflower deformity of dermal collagen fibrils HP:0031519 An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy. PMID:3224502 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. 2017-09-22T02:40:10Z human_phenotype HP:0031520 Groin pain HP:0031520 A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. 2017-09-23T01:45:41Z Clear cell adenocarcinoma of the vagina human_phenotype HP:0031521 Vaginal clear cell adenocarcinoma HP:0031521 A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm. NCIT:C7735 PMID:11444201 A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. 2017-09-23T01:51:13Z Clear cell carcinoma of cervix human_phenotype HP:0031522 Cervical clear cell adenocarcinoma HP:0031522 A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm. NCIT:C6344 A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) 2017-09-23T01:57:47Z human_phenotype Parotid oncocytoma HP:0031523 Most cases of salivary gland oncocytoma occur in the parotid gland. Salivary gland oncocytoma HP:0031523 A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) NCIT:C5932 PMID:20181155 A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. 2017-09-23T02:03:06Z human_phenotype HP:0031524 Ampulla of Vater carcinoma HP:0031524 A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. NCIT:C3908 Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. 2017-09-23T02:14:55Z human_phenotype HP:0031525 Keratoacanthoma HP:0031525 Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. NCIT:C3146 PMID:24376301 Fluid accumulating between the neuroretina and retinal pigment epithelium. 2017-09-24T00:47:09Z Sub-retinal fluid human_phenotype HP:0031526 Subretinal fluid HP:0031526 Accumulation of fluid within the layers of the retina not limited to the macular region. 2017-09-24T00:47:48Z Intra-retinal fluid Intraretinal fluid human_phenotype HP:0031527 The resulting swelling of the retina can lead to visual disturbances. Retinal edema HP:0031527 Accumulation of fluid within the layers of the retina not limited to the macular region. PMID:29126927 Deposits accumulating between the outer retina and the retinal pigment epithelium. 2017-09-24T00:49:01Z HP:0031529 HP:0031530 human_phenotype HP:0031528 Subretinal deposits HP:0031528 HP:0031528 2017-09-24T00:49:30Z human_phenotype HP:0031529 obsolete Focal subretinal deposits true HP:0031529 HP:0031528 2017-09-24T00:49:30Z human_phenotype HP:0031530 obsolete Multifocal subretinal deposits true HP:0031530 Deposits accumulating between the retinal pigment epithelium (RPE) and Bruch's membrane. 2017-09-24T00:50:33Z HP:0031532 HP:0031533 human_phenotype HP:0031531 Sub-RPE deposits HP:0031531 HP:0031531 2017-09-24T00:51:20Z human_phenotype HP:0031532 obsolete Focal sub-RPE deposits true HP:0031532 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci. HP:0031531 2017-09-24T00:51:20Z human_phenotype HP:0031533 obsolete Multifocal sub-RPE deposits true HP:0031533 An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. 2017-09-24T00:56:23Z human_phenotype HP:0031534 This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score. Passive dorsiflexion of the 5th finger more than 90 degrees HP:0031534 An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal. PMID:24358988 Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. 2017-09-24T01:03:08Z human_phenotype HP:0031535 Increased theta frequency activity in EEG HP:0031535 Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). 2017-09-24T01:16:29Z human_phenotype HP:0031536 Separate origin of the left anterior descending and left circumflex artery HP:0031536 Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA). PMID:27358682 An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). 2017-09-24T01:19:28Z human_phenotype HP:0031537 Anomalous origin of the left circumflex artery from the right coronary artery HP:0031537 An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA). PMID:27358682 Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. 2017-09-24T01:32:24Z human_phenotype HP:0031538 Abnormal dermoepidermal junction morphology HP:0031538 Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments. PMID:1097542 Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. 2017-09-24T01:33:51Z human_phenotype HP:0031539 Linear IgA deposits along the epidermal basement membrane zone HP:0031539 Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. PMID:24160488 Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. 2017-09-24T01:35:53Z human_phenotype HP:0031540 Linear IgG deposits along the epidermal basement membrane zone HP:0031540 Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. PMID:24160488 Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. 2017-09-24T01:36:15Z human_phenotype HP:0031541 Linear C3 deposits along the epidermal basement membrane zone HP:0031541 Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. PMID:24160488 Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. 2017-09-24T01:38:55Z Myelin-like whorls in vacuolated fibres human_phenotype HP:0031542 Myelin-like whorls in vacuolated fibers HP:0031542 Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner. PMID:18974994 Myelin-like whorls in vacuolated fibres The concentration palmitoleylcarnitine (hexadecenoylcarnitine or C16:1) in the blood circulation is above the upper limit of normal. 2017-09-24T01:57:19Z HP:0033463 Elevated plasma palmitoleylcarnitine, C16:1 human_phenotype HP:0031544 Elevated circulating palmitoleylcarnitine concentration HP:0031544 Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. 2017-09-24T22:20:27Z human_phenotype HP:0031545 T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence Abnormally low T cell receptor excision circle level HP:0031545 Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. PMID:22001765 Any anomaly of the progression of electrical impulses through the heart. 2017-09-24T22:36:44Z Abnormality of cardiac conduction Abnormality of cardiac conduction system Cardiac conduction abnormalities Cardiac conduction defects Heart conduction disorder human_phenotype HP:0031546 The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS). Cardiac conduction abnormality HP:0031546 Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). 2017-09-24T22:39:38Z human_phenotype HP:0031547 Abnormal QT interval HP:0031547 A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. 2017-09-24T23:07:25Z Basal cell hamartoma with follicular differentiation Follicular infundibulum tumour human_phenotype HP:0031548 Follicular infundibulum tumor HP:0031548 A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma. NCIT:C4469 PMID:25387502 Follicular infundibulum tumour Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. 2017-09-24T23:14:34Z Skin pseudolymphoma Spiegler-Fendt sarcoid human_phenotype HP:0031549 Lymphocytoma cutis HP:0031549 Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis. PMID:24346899 Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules. 2017-09-24T23:18:11Z human_phenotype HP:0031550 Abnormal flow cytometry test result HP:0031550 Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry. 2017-09-24T23:18:36Z human_phenotype HP:0031551 Reduced cell surface marker level HP:0031551 Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry. 2017-09-24T23:21:50Z human_phenotype HP:0031552 Reduced fibroblast surface marker level HP:0031552 Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry. 2017-09-24T23:21:50Z human_phenotype HP:0031553 Reduced granulocyte surface marker level HP:0031553 Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry. 2017-09-24T23:23:06Z human_phenotype HP:0031554 Reduced granulocyte CD55 level HP:0031554 Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. 2017-09-24T23:23:06Z human_phenotype HP:0031555 Reduced granulocyte CD59 level HP:0031555 Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry. 2017-09-24T23:23:06Z human_phenotype HP:0031556 Reduced granulocyte CD16 level HP:0031556 Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry. 2017-09-24T23:23:25Z human_phenotype HP:0031557 Reduced fibroblast CD55 level HP:0031557 Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry. 2017-09-24T23:23:25Z human_phenotype HP:0031558 Reduced fibroblast CD59 level HP:0031558 Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry. 2017-09-24T23:23:25Z human_phenotype HP:0031559 Reduced fibroblast CD16 level HP:0031559 An abnormal communication between coronary artery and a cardiac chamber. 2017-09-29T11:27:41Z Fyler:2233 human_phenotype HP:0031560 Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients. Coronary cameral fistula HP:0031560 An abnormal communication between coronary artery and a cardiac chamber. PMID:26240737 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. 2017-09-29T11:29:11Z human_phenotype HP:0031561 Coronary cameral fistula to right ventricle HP:0031561 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle. MP:0011684 A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. 2017-09-29T11:31:18Z Fyler:2780 human_phenotype HP:0031562 Balanced double aortic arch HP:0031562 A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch. PMID:22073330 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. 2017-09-29T12:05:45Z Fyler:2240 human_phenotype HP:0031563 Coronary arteriovenous fistula HP:0031563 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation. MP:0011656 An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). 2017-09-29T22:43:03Z human_phenotype HP:0031564 Bronchial isomerism HP:0031564 An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism). PMID:21731561 An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. 2017-09-29T22:56:16Z Fyler:3817 human_phenotype HP:0031565 Abdominal situs ambiguus HP:0031565 An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. Fyler:3817 Any structural anomaly of the pulmonary valve leaflets. 2017-09-29T23:10:58Z Fyler:1652 human_phenotype HP:0031566 Abnormal pulmonary valve cusp morphology HP:0031566 Any structural anomaly of the pulmonary valve leaflets. Fyler:1652 Any structural anomaly of the aortic valve leaflets. 2017-09-29T23:13:33Z Fyler:1480 human_phenotype HP:0031567 Abnormal aortic valve cusp morphology HP:0031567 Any structural anomaly of the aortic valve leaflets. Fyler:1480 An abnormally increased thickness of a leaflet of the aortic valve. 2017-09-29T23:18:10Z Fyler:1486 human_phenotype HP:0031568 Thickened aortic valve cusp HP:0031568 An abnormally increased thickness of a leaflet of the aortic valve. Fyler:1486 PMID:9360334 A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. 2017-09-29T23:21:20Z Fyler:1484 Absent aortic valve human_phenotype HP:0031569 Absent aortic valve cusps HP:0031569 A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva. Fyler:1484 PMID:2274446 A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. 2017-10-14T12:22:09Z Tessier facial cleft number 0 human_phenotype HP:0031570 Tessier number 0 facial cleft HP:0031570 A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension. PMID:2503273 A type of facial cleft located near to but not directly on the midline of the face. 2017-10-14T12:27:05Z human_phenotype HP:0031571 Paramedian facial cleft HP:0031571 As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. 2017-10-14T12:27:58Z human_phenotype HP:0031572 Tessier number 1 facial cleft HP:0031572 As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly. PMID:2503273 As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. 2017-10-14T12:36:28Z human_phenotype HP:0031573 Tessier number 2 facial cleft HP:0031573 As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening. PMID:2503273 A facial cleft characterized by involvement of the orbit. 2017-10-14T12:37:52Z human_phenotype HP:0031574 Orbital cleft HP:0031574 A facial cleft characterized by involvement of the orbit. PMID:2503273 As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. 2017-10-14T12:38:50Z human_phenotype HP:0031575 Tessier number 3 facial cleft HP:0031575 As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced. PMID:2503273 The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. 2017-10-14T12:40:39Z human_phenotype HP:0031576 Tessier number 4 facial cleft HP:0031576 The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly. PMID:2503273 The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. 2017-10-14T12:42:32Z human_phenotype HP:0031577 Tessier number 5 facial cleft HP:0031577 The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium. PMID:2503273 A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. 2017-10-14T12:43:34Z Tessier facial cleft number 6 human_phenotype HP:0031578 Tessier number 6 facial cleft HP:0031578 A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid. PMID:2503273 The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. 2017-10-14T12:45:44Z Tessier cleft number 7 Tessier facial cleft number 7 human_phenotype HP:0031579 Tessier number 7 facial cleft HP:0031579 The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate. PMID:2503273 The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. 2017-10-14T12:46:25Z Tessier facial cleft number 8 human_phenotype HP:0031580 Tessier number 8 facial cleft HP:0031580 The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae. PMID:2503273 This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. 2017-10-14T12:48:09Z human_phenotype HP:0031581 Tessier number 9 facial cleft HP:0031581 This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa. PMID:2503273 In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. 2017-10-14T12:49:41Z human_phenotype HP:0031582 Tessier number 10 facial cleft HP:0031582 In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric. PMID:2503273 An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. 2017-10-14T12:51:12Z human_phenotype HP:0031583 Tessier number 11 facial cleft HP:0031583 An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal. PMID:2503273 There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in transverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. 2017-10-14T12:52:42Z human_phenotype HP:0031584 Tessier number 12 facial cleft HP:0031584 There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in transverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate. PMID:2503273 There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. 2017-10-14T12:54:25Z human_phenotype HP:0031585 Tessier number 13 facial cleft HP:0031585 There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above. PMID:2503273 This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. 2017-10-14T12:56:19Z Tessier facial cleft number 14 human_phenotype HP:0031586 Tessier number 14 facial cleft HP:0031586 This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan. PMID:2503273 A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. 2017-10-14T12:58:17Z human_phenotype HP:0031587 Tessier number 30 facial cleft HP:0031587 A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis. PMID:22529554 A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events. 2017-10-14T13:22:11Z Unhappy demeanour human_phenotype HP:0031588 Unhappy demeanor HP:0031588 Unhappy demeanour Frequent thoughts about or preoccupation with killing oneself. 2017-10-14T13:24:50Z Suicidal perseveration Suicidality human_phenotype Suicidal thoughts HP:0031589 Suicidal behaviors involving actions or attempts should be labeled as HP:5200330. Suicidal ideation HP:0031589 Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. 2017-10-14T13:28:32Z Eye strain human_phenotype HP:0031590 Asthenopia HP:0031590 Eye strain An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. 2017-10-15T12:51:38Z Enlarged inferior vena cava valve Giant Eustachian valve human_phenotype HP:0031591 During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity. Enlarged Eustachian valve HP:0031591 An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava. PMID:12484622 Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. 2017-10-15T13:19:50Z human_phenotype HP:0031592 Situs inversus with levocardia HP:0031592 Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia. Fyler:0102 Fyler:102 MP:0011253 An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. 2017-10-15T13:27:21Z human_phenotype HP:0031593 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. Abnormal PR interval HP:0031593 An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds. PMID:23677846 A reduction in voltage of the PR segment below baseline. 2017-10-15T13:31:27Z PR interval depression PTa depression human_phenotype HP:0031594 The differential diagnosis includes normal variant, pericarditis or atrial infarct. PR segment depression HP:0031594 Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. 2017-10-15T13:31:59Z human_phenotype HP:0031595 P waves are normally upright in leads I and II and inverted in aVR. Abnormal P wave HP:0031595 An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric. 2017-10-15T13:35:56Z human_phenotype HP:0031596 The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle. Abnormal PR segment HP:0031596 An increase in voltage of the PR segment above baseline. 2017-10-15T13:45:12Z PR interval elevation PTa elevation human_phenotype HP:0031597 PR segment elevation HP:0031597 V-shaped cut (notch) in the middle of the P wave. 2017-10-15T13:53:22Z human_phenotype HP:0031598 One may observe notched P-waves in the frontal plane in partial interatrial block. Notched P wave HP:0031598 A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II. 2017-10-15T14:01:02Z human_phenotype HP:0031599 P mitrale HP:0031599 P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves. 2017-10-15T14:02:33Z human_phenotype HP:0031600 P wave inversion HP:0031600 The presence of tall, peaked P waves in EKG lead II. 2017-10-15T14:02:48Z human_phenotype HP:0031601 P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension. P pulmonale HP:0031601 An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. 2017-10-22T12:41:51Z Abnormal mucociliary transport human_phenotype HP:0031602 Abnormal mucociliary clearance HP:0031602 An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. 2017-10-22T12:44:48Z Abnormal saccharine test human_phenotype HP:0031603 Impaired nasal mucociliary clearance HP:0031603 A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. 2017-10-22T13:26:34Z Bony carotid canal agenesis human_phenotype HP:0031604 This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal. Agenesis of the carotid canal HP:0031604 A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. PMID:21339912 Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. Fundus pigmentation should be evaluated in the context of skin and hair color. 2017-12-01T11:02:43Z Abnormality of fundus pigmentation human_phenotype HP:0031605 Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. Abnormal fundus pigmentation HP:0031605 Fluffy white patch in the inner retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. 2017-12-02T11:22:46Z human_phenotype HP:0031606 On angiography and OCT-A,rRetinal cotton wool spots would colocalise with a capillary drop-out. Retinal cotton wool spot HP:0031606 Fluffy white patch in the inner retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. PMID:6169833 Pelvic organ prolapse (POP) refers to the protrusion of one or more female pelvic organs outside the pelvis through the vagina including uterus, bladder and intestines, and causes the pelvic organs to drop downward to the vaginal wall. That is, POP is defined as the anatomical prolapse with descent of at least one of the vaginal walls to or beyond the vaginal hymen with maximal Valsalva effort with the presence either of bothersome characteristic symptoms, most commonly the sensation of vaginal bulge, or of functional or medical compromise due to prolapse without symptom bother. 2017-12-09T14:09:47Z HP:0100672 Female genital prolapse Vaginal hernia Vaginal prolapse human_phenotype HP:0031607 Pelvic organ prolapse HP:0031607 Pelvic organ prolapse (POP) refers to the protrusion of one or more female pelvic organs outside the pelvis through the vagina including uterus, bladder and intestines, and causes the pelvic organs to drop downward to the vaginal wall. That is, POP is defined as the anatomical prolapse with descent of at least one of the vaginal walls to or beyond the vaginal hymen with maximal Valsalva effort with the presence either of bothersome characteristic symptoms, most commonly the sensation of vaginal bulge, or of functional or medical compromise due to prolapse without symptom bother. PMID:21505577 PMID:22414610 PMID:34191102 https://orcid.org/0000-0002-6387-4317 Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD). 2017-12-10T14:57:12Z Geographic atrophy Geographic atrophy of the macula human_phenotype HP:0031609 Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. Macular geographic atrophy HP:0031609 Chronic progressive degeneration of the macula that can be seen as part of late-stage age-related macular degeneration (AMD). PMID:24158023 https://orcid.org/0000-0003-0986-4123 Shoulder dislocation occurring repeated times. 2017-12-11T10:45:31Z Multiple shoulder dislocation human_phenotype HP:0031610 Recurrent shoulder dislocation HP:0031610 Shoulder dislocation occurring repeated times. PMID:29197942 https://orcid.org/0000-0002-6387-4317 Multiple shoulder dislocation A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. 2017-12-16T12:30:06Z Sub-ILM haemorrhage Sub-ILM hemorrhage Sub-inner limiting membrane haemorrhage human_phenotype HP:0031611 Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fiber layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment. Sub-inner limiting membrane hemorrhage HP:0031611 A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer. PMID:17229799 Sub-ILM haemorrhage Sub-ILM hemorrhage Sub-inner limiting membrane haemorrhage Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus. 2017-12-16T12:49:21Z human_phenotype HP:0031613 Inferior chorioretinal coloboma HP:0031613 A notch or cleft of the lower part of the retina. 2017-12-16T12:58:27Z human_phenotype HP:0031614 Inferior retinal coloboma HP:0031614 Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber. 2017-12-16T13:13:37Z human_phenotype HP:0031615 Hypopyon HP:0031615 An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. 2017-12-16T13:18:34Z human_phenotype HP:0031616 Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term. Anterior chamber flare HP:0031616 An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber. PMID:16196117 Faint anterior chamber flare. 2017-12-16T13:29:05Z human_phenotype HP:0031618 Anterior chamber flare grade 1+ HP:0031618 Faint anterior chamber flare. PMID:16196117 Moderate anterior chamber flare (iris and lens details clear). 2017-12-16T13:29:55Z human_phenotype HP:0031619 Anterior chamber flare grade 2+ HP:0031619 Moderate anterior chamber flare (iris and lens details clear). PMID:16196117 Marked anterior chamber flare (iris and lens details hazy). 2017-12-16T13:31:07Z human_phenotype HP:0031620 Anterior chamber flare grade 3+ HP:0031620 Marked anterior chamber flare (iris and lens details hazy). PMID:16196117 Intense anterior chamber flare (fibrin/plastic aqueous). 2017-12-16T13:32:13Z human_phenotype HP:0031621 Anterior chamber flare grade 4+ HP:0031621 Intense anterior chamber flare (fibrin/plastic aqueous). PMID:16196117 An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. 2017-12-16T13:37:10Z Brown syndrome human_phenotype HP:0031622 Brown anomaly HP:0031622 An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result. PMID:28841851 https://orcid.org/0000-0003-0986-4123 Drooping of the upper eyebrow below the superior orbital rim. 2017-12-16T13:48:49Z Drooping brow human_phenotype HP:0031623 Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face. Brow ptosis HP:0031623 Drooping brow A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. 2017-12-16T14:07:21Z human_phenotype HP:0031624 Moderate myopia HP:0031624 A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. 2017-12-16T15:55:45Z human_phenotype HP:0031625 Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA). Pseudoaneurysm HP:0031625 A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. PMID:17515479 Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve. 2017-12-16T16:26:05Z Atresia of coronary ostium human_phenotype HP:0031626 Coronary ostial atresia is usually associated with ischemic manifestations Coronary ostial atresia HP:0031626 Pathological deposition of calcium salts in the globus pallidus. 2017-12-17T00:15:04Z human_phenotype HP:0031627 Globus pallidus calcification HP:0031627 Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. 2017-12-17T00:22:44Z Sudden cardiac arrest human_phenotype HP:0031628 Aborted sudden cardiac death HP:0031628 Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. PMID:25187745 https://orcid.org/0000-0001-5835-5515 Reduced ability to walk in a straight line while placing the feet heel to toe. 2017-12-17T00:38:29Z Clumsy tandem walking human_phenotype HP:0031629 Impaired tandem gait HP:0031629 Clumsy tandem walking Any structural anomaly located between the pleura and the chest wall. 2017-12-17T00:44:36Z human_phenotype HP:0031630 Abnormal subpleural morphology HP:0031630 So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. 2017-12-17T00:47:40Z human_phenotype HP:0031631 Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls. Subpleural honeycombing HP:0031631 So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space. PMID:23220902 Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. 2017-12-17T01:01:57Z HP:0031014 Aberrant right subclavian artery syndrome Anomalous origin of right subclavian artery Anomalous origin of the right subclavian artery from the descending aorta Anomalous right subclavian artery Arteria lusoria Lusorian artery human_phenotype HP:0031632 Aberrant right subclavian artery HP:0031632 Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. PMID:25105156 The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. 2017-12-17T01:04:45Z Fyler:2732 human_phenotype HP:0031633 Isolation of the left subclavian artery HP:0031633 The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus. MP:0011745 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. 2017-12-17T12:26:12Z human_phenotype HP:0031634 Anomalous origin of the left common carotid artery from the main pulmonary artery HP:0031634 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery. PMID:27974985 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. 2017-12-17T12:29:45Z Anomalous origin of the left common carotid artery from the brachiocephalic trunk human_phenotype HP:0031635 Anomalous origin of the left common carotid artery from the brachiocephalic artery HP:0031635 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. PMID:18694519 The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. 2017-12-17T12:31:37Z human_phenotype HP:0031636 Anomalous origin of the right common carotid artery from the aorta HP:0031636 The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta. PMID:12601459 Absence of the normal opening of the coronary ostium from which the right main coronary artery originates. 2017-12-17T12:45:57Z human_phenotype HP:0031637 Right coronary artery ostial atresia HP:0031637 The left anterior descending artery (LAD) branches off from the pulmonary artery. 2017-12-17T12:50:50Z human_phenotype HP:0031638 Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD. Anomalous origin of the left anterior descending artery from the pulmonary artery HP:0031638 The left anterior descending artery (LAD) branches off from the pulmonary artery. PMID:27358682 The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava. 2017-12-17T12:56:17Z Absent LMCA human_phenotype HP:0031639 Absent left main coronary artery HP:0031639 Absent LMCA Any structural anomaly of the radial artery. 2017-12-17T13:30:31Z human_phenotype HP:0031640 Abnormal radial artery morphology HP:0031640 A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall. 2017-12-17T14:02:25Z human_phenotype HP:0031643 Fusiform ascending tubular aorta aneurysm HP:0031643 A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall 2017-12-17T14:14:11Z human_phenotype HP:0031644 Fusiform abdominal aortic aneurysm HP:0031644 An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall. 2017-12-17T14:14:53Z human_phenotype HP:0031645 Saccular abdominal aortic aneurysm HP:0031645 A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall. 2017-12-17T14:19:02Z human_phenotype HP:0031646 Fusiform aortic arch aneurysm HP:0031646 An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall. 2017-12-17T14:19:53Z human_phenotype HP:0031647 Saccular aortic arch aneurysm HP:0031647 A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture. 2017-12-17T14:55:54Z human_phenotype HP:0031648 Pentrating aortic ulcers are typically caused by atherosclerotic lesions. Penetrating aortic ulcer HP:0031648 Tearing of the aortic wall generally associated with profuse internal bleeding. 2017-12-17T15:01:47Z human_phenotype HP:0031649 Aortic rupture HP:0031649 Any functional defect of the mitral or tricuspid valve. 2017-12-17T15:17:45Z human_phenotype HP:0031650 Abnormal atrioventricular valve physiology HP:0031650 Any functional defect of the tricuspid valve. 2017-12-17T15:19:13Z human_phenotype HP:0031651 Abnormal tricuspid valve physiology HP:0031651 2017-12-17T15:20:51Z human_phenotype HP:0031652 Abnormal aortic valve physiology HP:0031652 Any functional abnormality of a cardiac valve. 2017-12-17T15:21:49Z human_phenotype HP:0031653 Abnormal heart valve physiology HP:0031653 Any functional anomaly of the pumonary valve. 2017-12-17T15:24:28Z human_phenotype HP:0031654 Abnormal pulmonary valve physiology HP:0031654 The presence of an aortic valve with four instead of the normal three cusps (flaps). 2017-12-17T15:32:01Z human_phenotype HP:0031655 Quadricuspid aortic valve HP:0031655 The presence of an aortic valve with four instead of the normal three cusps (flaps). PMID:27390747 Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. 2017-12-17T15:49:49Z human_phenotype HP:0031656 Systolic anterior motion of the mitral valve HP:0031656 Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. PMID:22847594 Any abnormal noise generated by the beating heart. 2017-12-17T15:56:24Z human_phenotype HP:0031657 The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure. Abnormal heart sound HP:0031657 The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. 2017-12-17T16:01:27Z S3 Ventricular gallop human_phenotype HP:0031658 Third heart sound HP:0031658 S3 The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction. 2017-12-17T16:03:22Z Atrial gallop Presystolic gallop S4 human_phenotype HP:0031659 S4 occurs in late diastole, is associated with atrial contraction, and coincides with the P wave on the EKG. Fourth heart sound HP:0031659 S4 Abnormally increased volume of the first heart sound. 2017-12-17T16:05:06Z human_phenotype HP:0031660 S1 may be loud in early phases of rheumatic mitral stenosis. Loud first heart sound HP:0031660 Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration. 2017-12-17T16:06:41Z human_phenotype HP:0031661 Abnormal second heart sound HP:0031661 Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. 2017-12-17T16:08:14Z Fixed splitting of S2 human_phenotype HP:0031662 Fixed splitting of S2 may occur in patients with secundum atrial septal defect. Fixed splitting of the second heart sound HP:0031662 Fixed splitting of S2 Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the opposite of the normal pattern). 2017-12-17T16:11:27Z Paradoxical splitting of S2 Reversed splitting of S2 Reversed splitting of the second heart sound human_phenotype HP:0031663 Paradoxical splitting of the second heart sound HP:0031663 Paradoxical splitting of S2 Reversed splitting of S2 A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. 2017-12-17T16:16:41Z human_phenotype HP:0031664 Systolic heart murmur HP:0031664 A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. 2017-12-17T16:17:45Z human_phenotype HP:0031665 A common cause of midsystolic murmurs in adults is aortic stenosis. Midsystolic murmur HP:0031665 A murmur that occurs in the latter phase of systole. 2017-12-17T16:19:04Z human_phenotype HP:0031666 A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse. Late systolic murmur HP:0031666 A heart murmur that occurs during the entire systolic phase from S1 to S2. 2017-12-17T16:20:33Z human_phenotype HP:0031667 Holosystolic murmur HP:0031667 A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1. 2017-12-17T16:21:15Z human_phenotype HP:0031668 Diastolic murmurs always signify structural heart disease. Diastolic heart murmur HP:0031668 A murmur that occurs in the middle of the diastolic phase. 2017-12-17T16:22:29Z human_phenotype HP:0031669 A middiastolic murmur may indicate mitral stenosis. Middiastolic murmur HP:0031669 A murmur that occurs in both systole and diastole. 2017-12-17T16:23:25Z human_phenotype HP:0031670 Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus. Continuous heart murmur HP:0031670 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. 2017-12-17T16:44:25Z human_phenotype HP:0031671 Typical atrial flutter HP:0031671 Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative. PMID:28835836 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. 2017-12-17T16:47:28Z human_phenotype HP:0031672 Reverse typical atrial flutter HP:0031672 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1. PMID:28835836 A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. 2017-12-17T16:55:02Z Orthodromic AVRT human_phenotype HP:0031673 Orthodromic atrioventricular reentrant tachycardia HP:0031673 A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction. PMID:29234357 Orthodromic AVRT A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction. 2017-12-17T16:57:22Z Antidromic AVRT human_phenotype HP:0031674 Antidromic atrioventricular reentrant tachycardia HP:0031674 Antidromic AVRT A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). 2017-12-17T17:01:47Z human_phenotype HP:0031675 Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic). Fascicular left ventricular tachycardia HP:0031675 A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG). PMID:29184614 A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so). 2017-12-17T17:06:28Z human_phenotype HP:0031676 Monomorphic VT originates from a single ventricular focus. Monomorphic ventricular tachycardia HP:0031676 A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). 2017-12-17T17:08:41Z human_phenotype HP:0031677 Polymorphic ventricular tachycardia HP:0031677 A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from the development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. 2017-12-17T17:19:49Z human_phenotype HP:0031678 Atherosclerotic lesion HP:0031678 A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from the development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus. PMID:8172861 Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells). 2017-12-17T17:29:15Z human_phenotype HP:0031679 Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type. Type I atherosclerotic lesion HP:0031679 Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. 2017-12-17T17:31:10Z human_phenotype HP:0031680 Type II atherosclerotic lesion HP:0031680 Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid. PMID:8172861 Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. 2017-12-17T17:33:15Z human_phenotype HP:0031681 Type III atherosclerotic lesion HP:0031681 Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions. PMID:8172861 Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant. 2017-12-17T17:38:22Z human_phenotype HP:0031682 Type V atherosclerotic lesion HP:0031682 Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. 2017-12-17T17:45:52Z human_phenotype HP:0031683 Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features. Type VI atherosclerotic lesion HP:0031683 Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes. PMID:7648691 An atherosclerotic lesion located in the renal artery. 2017-12-17T18:25:00Z human_phenotype HP:0031684 Renal artery atherosclerosis HP:0031684 Abnormal level of metabolite or other abnormal analyte result in a stool test. 2017-12-17T21:04:26Z HP:0032483 Abnormal faeces composition Abnormal feces composition human_phenotype Abnormal faecal test result Abnormal fecal test result HP:0031685 Abnormal stool composition HP:0031685 Abnormal faeces composition Abnormal faecal test result An abnormally elevated amount of alpha1-antitrypsin in the feces. 2017-12-17T21:09:20Z human_phenotype HP:0031686 Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy). Increased stool alpha1-antitrypsin concentration HP:0031686 2017-12-17T21:17:09Z Accentuation of the pulmonic component of the second heart sound human_phenotype HP:0031687 The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341]. Abnormally loud pulmonic component of the second heart sound HP:0031687 Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. 2017-12-17T22:04:44Z human_phenotype Dyserythropoiesis HP:0031688 Erythroid dysplasia HP:0031688 Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. PMID:26791933 The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. 2017-12-17T22:09:51Z Dysmegakaryopoiesis human_phenotype HP:0031689 Megakaryocyte dysplasia HP:0031689 The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. PMID:27127725 An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. 2017-12-17T22:11:49Z human_phenotype HP:0031690 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. Opportunistic infection HP:0031690 An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. https://orcid.org/0000-0002-0736-9199 An unusually severe viral infection. 2017-12-17T22:28:59Z human_phenotype HP:0031691 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. Severe viral infection HP:0031691 An unusually severe viral infection. PMID:21960712 An unusually severe infection by cytomegalovirus. 2017-12-17T22:31:35Z human_phenotype HP:0031692 A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis. Severe cytomegalovirus infection HP:0031692 An unusually severe infection by cytomegalovirus. PMID:12588074 An unusually severe Epstein Barr virus (EBV) infection. 2017-12-17T22:35:16Z Fulminant infectious mononucleosis Severe EBV infection human_phenotype HP:0031693 Severe Epstein Barr virus infection HP:0031693 An unusually severe adenovirus infection. 2017-12-17T22:36:24Z human_phenotype HP:0031694 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. Severe adenovirus infection HP:0031694 An unusually severe adenovirus infection. PMID:24678403 Increased susceptibility to parainfluenza virus infections as manifested by a severe or invasive infection with parainfluenza virus. 2017-12-17T22:38:29Z Disseminated parainfluenza infection Invasive parainfluenza infection Severe parainfluenza infection human_phenotype HP:0031695 Severe parainfluenza infection HP:0031695 A viral infection that fails to be contained by the immune system and spreads throughout the body. 2017-12-17T22:39:04Z human_phenotype HP:0031696 Disseminated viral infection HP:0031696 A viral infection that fails to be contained by the immune system and spreads throughout the body. PMID:28476145 A dissemination viral infection caused by a live attenuated vaccine virus. 2017-12-17T22:41:17Z human_phenotype HP:0031697 Disseminated infection with live vaccine virus HP:0031697 A dissemination viral infection caused by a live attenuated vaccine virus. PMID:25452596 Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. HP:0020087 2017-12-17T22:43:27Z human_phenotype HP:0031698 obsolete Disseminated Bacillus Calmette-Guerin infection true HP:0031698 Disseminated infection with Cryptosporidium species, involving organs beyond the gastrointestinal tract such as the biliary tree, respiratory tract, or pancreas. 2017-12-17T22:46:38Z Disseminated cryptosporidiosis Invasive Cryptosporidium infection Severe Cryptosporidium infection human_phenotype HP:0031699 Disseminated cryptosporidium infection HP:0031699 A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host. 2017-12-17T22:50:23Z human_phenotype HP:0031700 Invasive parasitic infection HP:0031700 The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye. 2017-12-18T00:14:18Z human_phenotype HP:0031701 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specify whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. Anterior chamber inflammatory cells HP:0031701 The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye. 2017-12-18T00:15:42Z Anterior chamber RBCs human_phenotype HP:0031702 The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specify whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma. Anterior chamber red blood cells HP:0031702 Anterior chamber RBCs Any structural anomaly of the ear. 2017-12-18T00:20:14Z Fyler:4867 human_phenotype HP:0031703 Abnormal ear morphology HP:0031703 Any functional anomaly of the ear. 2017-12-18T00:20:24Z human_phenotype HP:0031704 Abnormal ear physiology HP:0031704 A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. 2017-12-18T00:24:15Z human_phenotype HP:0031705 An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem. Compensatory head posture HP:0031705 A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement. 2017-12-18T00:26:27Z human_phenotype HP:0031706 Compensatory chin depression HP:0031706 A tendency to turn the face to the right to compensate for a limitation of eye movement. 2017-12-18T00:27:59Z human_phenotype HP:0031707 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. Compensatory face turn to the right HP:0031707 A tendency to turn the face to the left to compensate for a limitation of eye movement. 2017-12-18T00:30:18Z human_phenotype HP:0031708 With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye. Compensatory face turn to the left HP:0031708 A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement. 2017-12-18T00:31:38Z human_phenotype HP:0031709 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. Compensatory head tilt to the right shoulder HP:0031709 A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement. 2017-12-18T00:33:44Z human_phenotype HP:0031710 With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position. Compensatory head tilt to the left shoulder HP:0031710 An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). 2017-12-22T11:19:37Z human_phenotype HP:0031711 Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface. Asymmetric abdominal aortic aneurysm HP:0031711 An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric). PMID:12751282 A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. 2018-01-13T13:23:11Z human_phenotype HP:0031713 Constant exotropia HP:0031713 A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times. https://orcid.org/0000-0003-0986-4123 A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. 2018-01-13T13:25:53Z human_phenotype HP:0031714 Distance exotropia HP:0031714 A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent. https://orcid.org/0000-0003-0986-4123 An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). 2018-01-13T13:30:16Z human_phenotype HP:0031715 Near exotropia HP:0031715 An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant). https://orcid.org/0000-0003-0986-4123 A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. 2018-01-13T13:31:56Z human_phenotype HP:0031716 Cyclic exotropia HP:0031716 A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle. https://orcid.org/0000-0003-0986-4123 A type of exotropia in which either eye may be used for fixation. 2018-01-13T13:33:37Z Alternating strabismus human_phenotype HP:0031717 Alternating exotropia HP:0031717 A type of exotropia in which either eye may be used for fixation. https://orcid.org/0000-0003-0986-4123 Exotropia in an individual who has previously had esotropia or esophoria. 2018-01-13T13:36:10Z human_phenotype HP:0031718 Consecutive exotropia HP:0031718 Exotropia in an individual who has previously had esotropia or esophoria. https://orcid.org/0000-0003-0986-4123 Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. 2018-01-13T13:40:43Z human_phenotype HP:0031719 True distance exotropia HP:0031719 Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits. https://orcid.org/0000-0003-0986-4123 Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation. 2018-01-13T13:40:55Z human_phenotype HP:0031720 Simulated distance exotropia HP:0031720 A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. 2018-01-13T14:03:40Z Secondary exotropia human_phenotype HP:0031721 Sensory exotropia HP:0031721 A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. https://orcid.org/0000-0003-0986-4123 An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. 2018-01-13T14:06:56Z Non-accomodative convergence excess esotropia human_phenotype HP:0031722 Near esotropia HP:0031722 An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved. https://orcid.org/0000-0003-0986-4123 Convergent squint which follows loss or impairment of vision. 2018-01-13T14:08:58Z Sensory esotropia human_phenotype HP:0031723 Secondary esotropia HP:0031723 Convergent squint which follows loss or impairment of vision. https://orcid.org/0000-0003-0986-4123 A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. 2018-01-13T14:16:59Z human_phenotype HP:0031724 Microtropia HP:0031724 A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs. https://orcid.org/0000-0003-0986-4123 A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. 2018-01-13T14:23:16Z human_phenotype HP:0031725 Hypophoria HP:0031725 A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards. https://orcid.org/0000-0003-0986-4123 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. 2018-01-14T15:35:57Z human_phenotype HP:0031726 Incyclotropia HP:0031726 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other. https://orcid.org/0000-0003-0986-4123 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. 2018-01-14T15:39:16Z human_phenotype HP:0031727 Excyclotropia HP:0031727 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other. https://orcid.org/0000-0003-0986-4123 A form of hypermetropia with not more than +2.00 diopters. 2018-01-21T13:18:26Z Mild hyperopia human_phenotype HP:0031728 Mild hypermetropia HP:0031728 A form of hypermetropia with not more than +2.00 diopters. https://orcid.org/0000-0003-0986-4123 A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. 2018-01-21T13:20:25Z Moderate hyperopia human_phenotype HP:0031729 Moderate hypermetropia HP:0031729 A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters. https://orcid.org/0000-0003-0986-4123 A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. 2018-01-21T13:22:58Z human_phenotype HP:0031730 Axial myopia HP:0031730 A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye. PMID:24113300 https://orcid.org/0000-0003-0986-4123 Increased lacrimation owing to overproduction of tears. 2018-01-21T13:27:49Z human_phenotype HP:0031731 Increased tear production HP:0031731 Increased lacrimation owing to overproduction of tears. https://orcid.org/0000-0003-0986-4123 A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. 2018-01-21T13:29:32Z human_phenotype HP:0031732 Increased basal tear production HP:0031732 A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance. https://orcid.org/0000-0003-0986-4123 A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). 2018-01-21T13:32:30Z human_phenotype HP:0031733 Reflex tearing HP:0031733 A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease). https://orcid.org/0000-0003-0986-4123 A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. 2018-01-21T13:36:29Z human_phenotype HP:0031734 Lacrimal pump failure HP:0031734 A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion. https://orcid.org/0000-0003-0986-4123 An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. 2018-01-21T13:40:49Z human_phenotype HP:0031736 Involutional entropion HP:0031736 An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle. https://orcid.org/0000-0003-0986-4123 Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. 2018-01-21T13:41:39Z human_phenotype HP:0031737 Cicatricial entropion HP:0031737 Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid. https://orcid.org/0000-0003-0986-4123 A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. 2018-01-21T13:42:52Z human_phenotype HP:0031738 Mechanical entropion HP:0031738 A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the inferior or superior oblique muscle. 2018-01-21T13:53:14Z human_phenotype HP:0031739 The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye. Abnormal oblique muscle physiology HP:0031739 A functional anomaly of the inferior or superior oblique muscle. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the medial rectus muscle or lateral rectus muscle. 2018-01-21T13:56:55Z human_phenotype HP:0031740 Abnormal horizontal rectus muscle physiology HP:0031740 Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-21T14:05:23Z human_phenotype HP:0031741 Inferior oblique muscle underaction HP:0031741 Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-21T14:07:33Z human_phenotype HP:0031742 Inferior rectus muscle underaction HP:0031742 Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. 2018-01-21T14:09:20Z human_phenotype HP:0031743 Inferior rectus muscle overaction HP:0031743 Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. https://orcid.org/0000-0003-0986-4123 Decreased strength of the superior rectus muscle. 2018-01-21T14:10:55Z human_phenotype HP:0031744 Superior rectus muscle weakness HP:0031744 Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. 2018-01-21T14:11:53Z human_phenotype HP:0031745 Superior rectus muscle overaction HP:0031745 Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. https://orcid.org/0000-0003-0986-4123 Mechanical limitation of the range of movement of the superior rectus muscle. 2018-01-21T14:13:01Z human_phenotype HP:0031746 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. Superior rectus muscle restriction HP:0031746 Mechanical limitation of the range of movement of the superior rectus muscle. https://orcid.org/0000-0003-0986-4123 Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-21T14:16:34Z human_phenotype HP:0031747 Superior rectus muscle underaction HP:0031747 Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the superior or inferior rectus muscle. 2018-01-21T14:18:23Z human_phenotype HP:0031748 Abnormal vertical rectus muscle physiology HP:0031748 A functional anomaly of the superior or inferior rectus muscle. https://orcid.org/0000-0003-0986-4123 A functional anomaly of the lateral rectus muscle. 2018-01-21T14:19:56Z human_phenotype HP:0031749 The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose). Abnormal lateral rectus muscle physiology HP:0031749 Decreased strength (ability to move) of the lateral rectus muscle. 2018-01-21T14:21:25Z human_phenotype HP:0031750 Lateral rectus muscle weakness HP:0031750 Decreased strength (ability to move) of the lateral rectus muscle. https://orcid.org/0000-0003-0986-4123 Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-21T14:23:28Z human_phenotype HP:0031751 Lateral rectus muscle underaction HP:0031751 Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. 2018-01-21T14:24:41Z human_phenotype HP:0031752 Lateral rectus muscle overaction HP:0031752 Decreased strength of the medial rectus muscle. 2018-01-21T14:25:38Z human_phenotype HP:0031753 Medial rectus muscle weakness HP:0031753 Decreased strength of the medial rectus muscle. https://orcid.org/0000-0003-0986-4123 Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist. 2018-01-21T14:26:34Z human_phenotype HP:0031754 Medial rectus muscle overaction HP:0031754 A functional anomaly of a vertical or horizontal rectus muscle. 2018-01-21T14:27:36Z human_phenotype HP:0031755 Abnormal rectus muscle physiology HP:0031755 A functional anomaly of a vertical or horizontal rectus muscle. https://orcid.org/0000-0003-0986-4123 Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. 2018-01-21T14:29:07Z human_phenotype HP:0031756 Medial rectus muscle underaction HP:0031756 Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy. https://orcid.org/0000-0003-0986-4123 Mechanical limitation of the range of movement of the medial rectus muscle. 2018-01-21T14:30:22Z human_phenotype HP:0031757 In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively. Medial rectus muscle restriction HP:0031757 Mechanical limitation of the range of movement of the medial rectus muscle. https://orcid.org/0000-0003-0986-4123 Mechanical limitation of the range of movement of the lateral rectus muscle. 2018-01-21T14:33:00Z human_phenotype HP:0031758 Lateral rectus muscle restriction HP:0031758 A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). 2018-01-21T14:43:58Z Basic (constant) esotropia human_phenotype HP:0031759 Basic constant esotropia HP:0031759 A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times). https://orcid.org/0000-0003-0986-4123 A form of esotropia in which the angle of deviation is not affected by accommodative effort. 2018-01-21T14:46:28Z human_phenotype HP:0031760 Non-accomodative esotropia HP:0031760 A form of esotropia in which the angle of deviation is not affected by accommodative effort. https://orcid.org/0000-0003-0986-4123 Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. 2018-01-21T14:47:01Z Infantile (constant) esotropia human_phenotype HP:0031761 Infantile constant esotropia HP:0031761 Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction. https://orcid.org/0000-0003-0986-4123 An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. 2018-01-21T14:47:19Z Divergence insufficiency human_phenotype HP:0031762 Distance esotropia HP:0031762 An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging. https://orcid.org/0000-0003-0986-4123 Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. 2018-01-21T14:47:29Z human_phenotype HP:0031763 Cyclic esotropia HP:0031763 Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle. https://orcid.org/0000-0003-0986-4123 Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. 2018-01-21T14:47:50Z human_phenotype HP:0031764 Fully accomodative esotropia HP:0031764 Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction. https://orcid.org/0000-0003-0986-4123 A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. 2018-01-21T14:48:00Z Constant esotropia with an accommodative component Constant esotropia with an accommodative element human_phenotype HP:0031765 Partially accomodative esotropia HP:0031765 A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses. https://orcid.org/0000-0003-0986-4123 An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. 2018-01-21T14:48:11Z human_phenotype HP:0031766 Convergence excess esotropia HP:0031766 An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. https://orcid.org/0000-0003-0986-4123 Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. 2018-01-21T14:48:32Z human_phenotype HP:0031767 Consecutive esotropia HP:0031767 Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection. https://orcid.org/0000-0003-0986-4123 Fixation of an object in the area adjacent to the fovea. 2018-01-21T14:54:21Z human_phenotype HP:0031768 Parafoveal fixation HP:0031768 Fixation of an object in the area adjacent to the fovea. https://orcid.org/0000-0003-0986-4123 Fixation of an object in a peripheral area of the retina. 2018-01-21T14:55:27Z human_phenotype HP:0031769 Peripheral fixation HP:0031769 Fixation of an object in a peripheral area of the retina. https://orcid.org/0000-0003-0986-4123 A type of epicanthus in which a medial vertical fold is present between upper and lower lids. 2018-01-25T11:23:16Z human_phenotype HP:0031770 Epicanthus palpebralis HP:0031770 A type of epicanthus in which a medial vertical fold is present between upper and lower lids. https://orcid.org/0000-0003-0986-4123 A type of epicanthus in which a primarily upper lid fold is present. 2018-01-25T11:24:33Z human_phenotype HP:0031771 Epicanthus tarsalis is a normal anatomic variant in the Asian population. Epicanthus tarsalis HP:0031771 A type of epicanthus in which a primarily upper lid fold is present. https://orcid.org/0000-0003-0986-4123 Any structural anomaly of the posterior circulating artery (PCOM). 2018-01-27T11:25:13Z human_phenotype HP:0031772 The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery. Abnormal posterior circulating artery morphology HP:0031772 A widening (ballooning) localized in the wall of the posterior communicating artery. 2018-01-27T11:27:22Z human_phenotype HP:0031773 Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture. Posterior communicating artery aneurysm HP:0031773 A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. 2018-01-27T11:28:34Z human_phenotype HP:0031774 PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases. Posterior communicating artery infundibulum HP:0031774 A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery. PMID:9848859 An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. 2018-01-27T11:35:03Z Paralytic strabismus human_phenotype HP:0031775 Neurogenic strabismus HP:0031775 An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them. https://orcid.org/0000-0003-0986-4123 A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). 2018-01-27T11:38:31Z human_phenotype HP:0031776 Cyclotropia HP:0031776 A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia). https://orcid.org/0000-0003-0986-4123 A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. 2018-01-27T11:40:02Z human_phenotype HP:0031777 Cyclophoria HP:0031777 A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation. https://orcid.org/0000-0003-0986-4123 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. 2018-01-27T11:40:45Z human_phenotype HP:0031778 Incyclophoria HP:0031778 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other. https://orcid.org/0000-0003-0986-4123 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other. 2018-01-27T11:47:57Z human_phenotype HP:0031779 Excyclophoria HP:0031779 A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. 2018-01-27T12:22:52Z human_phenotype HP:0031780 Eosinophilic ascites HP:0031780 A type of ascites in which there are large numbers of eosinophils in the ascitis fluid. PMID:27721930 A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. 2018-01-28T11:42:09Z human_phenotype HP:0031781 Microtropia with identity HP:0031781 A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC. PMID:9602615 https://orcid.org/0000-0003-0986-4123 A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. 2018-01-28T11:44:11Z human_phenotype HP:0031782 Microtropia without identity HP:0031782 A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test. PMID:9602615 https://orcid.org/0000-0003-0986-4123 A developmental defect in which the coronary sinus fails to form. 2018-01-28T12:02:56Z Fyler:2841 human_phenotype HP:0031783 Absent coronary sinus HP:0031783 A developmental defect in which the coronary sinus fails to form. PMID:24551710 https://orcid.org/0000-0001-5208-3432 Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. 2018-01-28T12:14:30Z Fyler:1431 human_phenotype HP:0031784 Abnormal ascending aorta morphology HP:0031784 Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise. MP:0009867 An abnormality in voluntary or involuntary eyelid movements or their control. 2018-01-28T12:51:02Z human_phenotype HP:0031785 Abnormal eyelid movement HP:0031785 Transient eyelid retraction during refixation from down to straight ahead. 2018-01-28T12:52:25Z Cogan eyelid twitch Eyelid twitch Lid twitch human_phenotype HP:0031786 Cogan lid twitch HP:0031786 Transient eyelid retraction during refixation from down to straight ahead. https://orcid.org/0000-0003-0986-4123 Astigmatism in which the refractive power of the vertical meridian is the greatest. 2018-01-28T13:31:31Z human_phenotype HP:0031787 Oblique astigmatism HP:0031787 Astigmatism in which the refractive power of the vertical meridian is the greatest. https://orcid.org/0000-0003-0986-4123 Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). 2018-01-28T13:33:42Z human_phenotype HP:0031788 With the rule astigmatism HP:0031788 Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest). https://orcid.org/0000-0003-0986-4123 Astigmatism with more plus power on the horizontal meridian. 2018-01-28T13:36:27Z human_phenotype HP:0031789 Against the rule astigmatism HP:0031789 A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). 2018-01-28T13:37:32Z human_phenotype HP:0031790 Mixed astigmatism HP:0031790 A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). https://orcid.org/0000-0003-0986-4123 A type of astigmatism related to an irregular shape of the lens. 2018-01-28T13:40:22Z human_phenotype HP:0031791 Lenticular astigmatism HP:0031791 A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. 2018-01-28T13:51:36Z human_phenotype HP:0031792 Irregular astigmatism HP:0031792 An increased concentration of leptin in the blood. 2018-02-25T14:05:58Z Elevated circulating leptin level human_phenotype HP:0031793 Increased serum leptin HP:0031793 An increased concentration of leptin in the blood. HPO_CONTRIBUTOR:RGD_sjwang A decrease below the normal concentration of glycerol in the blood. 2018-02-25T14:13:06Z human_phenotype HP:0031794 Decreased circulating glycerol level HP:0031794 Any deviation from the normal concentration of glycerol in the blood. 2018-02-25T14:28:46Z human_phenotype HP:0031795 Abnormal circulating glycerol level HP:0031795 Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. 2018-02-25T14:40:47Z Intermittent human_phenotype HP:0031796 Recurrent HP:0031796 The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. 2018-02-25T14:55:46Z human_phenotype Natural history of disease HP:0031797 Clinical course HP:0031797 The concentration of apolipoprotein B in the blood circulation is above the upper limit of normal. 2018-02-25T15:02:46Z Elevated ApoB level Elevated apolipoprotein B level human_phenotype HP:0031798 apolipoprotein B occurs in plasma as two main isoforms, apoB-48 and apoB-100. Elevated circulating apolipoprotein B concentration HP:0031798 The concentration of apolipoprotein A-I in the blood circulation is below the lower limit of normal. 2018-02-25T15:04:10Z Decreased apo-AI level Decreased apoA-I level Decreased apolipoprotein A-I concentration Decreased apolipoprotein A-I level Decreased apolipoprotein A-I level in blood Decreased apolipoprotein AI level Decreased circulating apolipoprotein A-I concentration Reduced apolipoprotein A-I concentration Reduced apolipoprotein A-I level Reduced apolipoprotein A-I level in blood human_phenotype HP:0031799 Decreased circulating apolipoprotein A-I concentration HP:0031799 The concentration of apolipoprotein A-II in the blood circulation is above the upper limit of normal. 2018-02-25T15:06:30Z Elevated APOAII level Elevated Apo-AII level Elevated apoA-II level Elevated apolipoprotein A-II concentration Elevated apolipoprotein A-II level Elevated apolipoprotein A-II level in blood Elevated circulating apolipoprotein A-II concentration Increased apolipoprotein A-II concentration Increased apolipoprotein A-II level Increased apolipoprotein A-II level in blood human_phenotype HP:0031800 Elevated circulating apolipoprotein A-II concentration HP:0031800 Any functional anomaly of the vocal cord. 2018-03-04T12:07:39Z human_phenotype HP:0031801 Vocal cord dysfunction HP:0031801 Bleeding within the fundus of the eye. 2018-03-07T15:30:14Z Fundus haemorrhage human_phenotype HP:0031803 Fundus hemorrhage HP:0031803 Fundus haemorrhage HP:0025240 2018-03-07T15:32:12Z human_phenotype HP:0031804 obsolete Premacular hemorrhage true HP:0031804 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped, flame shaped or confluent depending upon their depth within the retina. 2018-03-07T15:35:11Z Intraretinal haemorrhage human_phenotype HP:0031805 This includes hemorrhages in the mid-retina. Confluent mid-retinal hemorrhage frequently indicates retinal non-perfusion. Intraretinal hemorrhage HP:0031805 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped, flame shaped or confluent depending upon their depth within the retina. https://orcid.org/0000-0003-0986-4123 Intraretinal haemorrhage Abnormal increase or decrease of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group. 2018-04-04T01:11:52Z human_phenotype HP:0031806 Abnormal total basophil count HP:0031806 Abnormal increase of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group. 2018-04-04T01:15:24Z Basophilia Increased basophil count human_phenotype HP:0031807 Increased total basophil count HP:0031807 Abnormal decrease of absolute number of basophils in the blood, per microliter, compared to a reference range for a given sex and age-group. 2018-04-04T01:16:02Z Decreased basophil count human_phenotype HP:0031808 Decreased total basophil count HP:0031808 Shortening of the fourth and fifth metacarpals when the fist is clenched. 2018-04-28T14:18:49Z Archibald's metacarpal sign Knuckle dimple human_phenotype HP:0031809 In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding). Archibald's sign HP:0031809 Shortening of the fourth and fifth metacarpals when the fist is clenched. PMID:22075011 PMID:22629539 https://orcid.org/0000-0002-6469-1475 Knuckle dimple The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. 2018-04-28T14:42:59Z human_phenotype HP:0031810 Anti-ganglioside antibody positivity HP:0031810 The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides. PMID:8027366 https://orcid.org/0000-0001-9969-8610 Presence of conjugated bilirubin in the urine. 2018-04-28T14:54:05Z human_phenotype HP:0031811 Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria. Bilirubinuria HP:0031811 Presence of conjugated bilirubin in the urine. https://orcid.org/0000-0001-9969-8610 Presence of nitrites in the urine. 2018-04-28T15:03:18Z human_phenotype HP:0031812 Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection. Nitrituria HP:0031812 Presence of nitrites in the urine. PMID:27377945 https://orcid.org/0000-0001-9969-8610 An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. 2018-04-28T21:07:47Z Eosinophilic colitis Eosinophilic infiltration in the colon human_phenotype HP:0031813 Colonic eosinophilia HP:0031813 An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. PMID:21922029 Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed. 2018-04-28T22:45:49Z human_phenotype HP:0031814 In 1908, Souques first described palilalia in a patient with an ischemic stroke of the right hemisphere. Since then, palilalia, which is typically documented in up to a third of patients with Tourette syndrome was reported in patients with other neurodevelopmental disorders such as autism spectrum disorder or trisomy 16p and neurodegenerative disorders, such as progressive supranuclear palsy, dementia of the Alzheimer's type, valosin-containing-protein proteinopathy, or chorea-acanthocytosis. Focal brain lesions, typically affecting thalamic and/or midbrain structures, may also lead to the expression of palilalic behaviors. A family with extensive intracerebral calcification was reported to present palilalia, and indeed patients with Fahr syndrome, an etiologically heterogeneous disorder, will often present this clinical sign. Further, palilalia was reported as ictal, autoimmune, and drug-induced phenomenon (e.g., with clozapine or cefepime). Palilalia HP:0031814 Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed. PMID:31651053 A functional anomaly of the mouth (which is also known as the oral cavity). 2018-04-29T14:50:56Z human_phenotype HP:0031815 The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing. Abnormal oral physiology HP:0031815 Any structural anomaly of the mouth, which is also known as the oral cavity. 2018-04-29T14:55:47Z human_phenotype HP:0031816 Abnormal oral morphology HP:0031816 An abnormally decreased concentration of parathyroid hormone. 2018-05-01T01:55:46Z Decreased circulating PTH level Decreased serum PTH Decreased serum parathyroid hormone Decreased serum parathyroid hormone level human_phenotype HP:0031817 Decreased circulating parathyroid hormone level HP:0031817 An abnormally decreased concentration of parathyroid hormone. HPO_CONTRIBUTOR:RGD_gthayman PMID:1302009 A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement. 2018-05-01T02:06:09Z human_phenotype HP:0031818 Abnormal waist to hip ratio HP:0031818 Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. 2018-05-01T02:08:12Z Increased WHR Increased waist-hip ratio Increased waist-to-hip ratio human_phenotype HP:0031819 Increased waist to hip ratio HP:0031819 Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. PMID:12872269 https://orcid.org/0000-0001-5356-4174 Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. 2018-05-01T02:11:00Z Decreased WHR Decreased waist-hip ratio Decreased waist-to-hip ratio human_phenotype HP:0031820 Decreased waist to hip ratio HP:0031820 Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. HPO_CONTRIBUTOR:RGD_gthayman PMID:12872269 Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. 2018-05-01T02:20:08Z Abnormal 6-hydroxypurine phosphoribosyltransferase level Abnormal GMP pyrophosphorylase level Abnormal GPRT level human_phenotype HP:0031821 Abnormal hypoxanthine-guanine phosphoribosyltransferase level HP:0031821 Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HPO_CONTRIBUTOR:RGD_sjwang Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. 2018-05-01T02:22:05Z Elevated 6-hydroxypurine phosphoribosyltransferase level Elevated 6-mercaptopurine phosphoribosyltransferase level Elevated GMP pyrophosphorylase level human_phenotype HP:0031822 Elevated hypoxanthine-guanine phosphoribosyltransferase level HP:0031822 Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HPO_CONTRIBUTOR:RGD_sjwang Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. 2018-05-01T02:23:27Z Reduced 6-hydroxypurine phosphoribosyltransferase level Reduced 6-mercaptopurine phosphoribosyltransferase level Reduced GMP pyrophosphorylase level human_phenotype HP:0031823 Reduced hypoxanthine-guanine phosphoribosyltransferase level HP:0031823 Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. HPO_CONTRIBUTOR:RGD_sjwang Liver mast cell infiltration. 2018-05-01T02:32:38Z human_phenotype HP:0031824 Hepatic mastocytosis HP:0031824 Liver mast cell infiltration. PMID:25009756 https://orcid.org/0000-0002-0736-9199 Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. 2018-05-02T00:28:50Z Freezing gait human_phenotype HP:0031825 Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation. Freezing of gait HP:0031825 Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. PMID:23625316 PMID:27770207 Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). 2018-05-02T01:05:40Z human_phenotype HP:0031826 Abnormal reflex HP:0031826 Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. 2018-05-02T01:07:23Z Abdominal reflex absent human_phenotype HP:0031827 A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity. Absent abdominal reflex HP:0031827 Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus. PMID:12531937 PMID:24785227 An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons. 2018-05-02T01:09:04Z human_phenotype HP:0031828 Abnormal superficial reflex HP:0031828 Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. 2018-05-02T01:11:18Z Absent cremasteric reflex human_phenotype HP:0031829 Absent cremaster reflex HP:0031829 Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex. PMID:12891505 A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. 2018-05-04T01:54:08Z human_phenotype HP:0031830 Pinguecula HP:0031830 A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea. PMID:24311926 A reduced concentration of zinc in the blood. 2018-05-04T02:05:49Z human_phenotype HP:0031831 Decreased serum zinc HP:0031831 A reduced concentration of zinc in the blood. HPO_CONTRIBUTOR:RGD_gthayman PMID:16518702 Overshoot of downward saccadic eye movements. 2018-05-04T02:38:07Z human_phenotype HP:0031832 Hypermetric downward saccades HP:0031832 Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. 2018-05-04T02:39:32Z human_phenotype HP:0031833 Hypometric upward saccades HP:0031833 Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. 2018-05-04T03:10:02Z human_phenotype HP:0031834 Aortopulmonary collateral arteries HP:0031834 Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. MP:0010635 PMID:26467877 Concentration or activity of superoxide dismutase is above or below the limits of normal in the blood circulation. 2018-05-05T12:59:29Z Abnormal superoxide dismutase level Abnormal superoxide:superoxide oxidoreductase activity human_phenotype HP:0031835 Superoxidase dismutase catalyzes the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide. Abnormal circulating superoxide dismutase activity HP:0031835 Concentration or activity of superoxide dismutase is above or below the limits of normal in the blood circulation. HPO_CONTRIBUTOR:RGD_gthayman PMID:25276767 Concentration or activity of superoxide dismutase is above the upper limit of normal in the blood circulation. 2018-05-05T13:01:09Z Increased superoxide dismutase level Increased superoxide:superoxide oxidoreductase activity human_phenotype HP:0031836 Increased circulating superoxide dismutase concentration HP:0031836 Concentration or activity of superoxide dismutase is above the upper limit of normal in the blood circulation. HPO_CONTRIBUTOR:RGD_gthayman Concentration or activity of superoxide dismutase is below the lower limit of normal in the blood circulation. 2018-05-05T13:01:54Z Decreased superoxide dismutase level Decreased superoxide:superoxide oxidoreductase activity human_phenotype HP:0031837 Decreased circulating superoxide dismutase concentration HP:0031837 Concentration or activity of superoxide dismutase is below the lower limit of normal in the blood circulation. HPO_CONTRIBUTOR:RGD_gthayman PMID:25276767 Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids. 2018-05-05T13:07:24Z human_phenotype HP:0031838 The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides. Presence of xenobiotic HP:0031838 The presence of a xenobiotic in urine. 2018-05-05T14:15:17Z human_phenotype HP:0031840 Urine xenobiotic HP:0031840 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine. 2018-05-05T14:18:14Z human_phenotype HP:0031841 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. Positive urine methadone test HP:0031841 Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. 2018-05-05T14:44:27Z Lymphangiectasia human_phenotype HP:0031842 Lymphangiectasis HP:0031842 Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. MP:0004038 An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers. 2018-05-05T15:04:12Z Abnormally slow thought processes Bradyphrenia Mental slowness Slow thought processes Slowed thinking Slowed thoughts Slowness of thought human_phenotype HP:0031843 Abnormally slow thought process HP:0031843 An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers. PMID:25850732 Abnormally slow thought processes Mental slowness Slowed thinking Slowness of thought Elevation of emotional tone or mood that significantly deviates from normative affective functioning. This state is characterized by an overwhelming and all-encompassing sense of joyous well-being; it is associated with unfounded grandiosity, or grossly inflated self-esteem, rapid speech, impulsivity, and an impaired capacity for self-regulation, irrespective of context. 2018-05-05T15:29:11Z HP:0025767 HP:0025768 Hyperthymia Hyperthymic state Jubilation Euphoric mood Extreme elation Inappropriate elation human_phenotype Abnormally elevated mood Excessive joyfulness Inappropriately happy Pathological cheerfulness HP:0031844 Euphoria may be experienced in the course of normal human activity, including sporting victory, sexual, substance use, or communal spiritual experiences; all manifestations of euphoria refer to profound elation and positive mood experiences. Euphoria in the normal context, is typically very brief and short-lived. Severe pathological euphoria may last hours to days and frequently results in marked impairments in judgment, behavior, and social or occupational functioning. Euphoria HP:0031844 Elevation of emotional tone or mood that significantly deviates from normative affective functioning. This state is characterized by an overwhelming and all-encompassing sense of joyous well-being; it is associated with unfounded grandiosity, or grossly inflated self-esteem, rapid speech, impulsivity, and an impaired capacity for self-regulation, irrespective of context. PMID:37636238 Any deviation from the normal sexual drive or desire for sexual activity. 2018-05-05T15:32:59Z human_phenotype HP:0031845 Abnormal libido HP:0031845 A break or crush injury of the thigh bone (femur). 2018-05-05T15:37:43Z Femoral fracture human_phenotype HP:0031846 Femur fracture HP:0031846 Reduced ability to walk (ambulate) in a backwards direction. 2018-05-05T15:41:41Z human_phenotype HP:0031847 We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature. Difficulty walking backward HP:0031847 Reduced ability to walk (ambulate) in a backwards direction. https://orcid.org/0000-0002-0736-9199 An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. 2018-05-05T15:45:59Z human_phenotype HP:0031848 Cock-walk gait HP:0031848 An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor. PMID:24746291 A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night. 2018-05-05T15:51:56Z Inverted sleep-wake cycle Reversed sleep-wake cycle Sleep rhythm inversion human_phenotype HP:0031849 Sleep-wake inversion HP:0031849 Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood. 2018-05-05T15:58:22Z Abnormal Hct human_phenotype HP:0031850 Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately. Abnormal hematocrit HP:0031850 Abnormal Hct A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. 2018-05-05T15:59:55Z Low hematocrit Reduced Hct human_phenotype HP:0031851 Reduced hematocrit HP:0031851 Reduced Hct Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. 2018-05-05T18:12:17Z human_phenotype HP:0031853 The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual. Isomerism HP:0031853 Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. PMID:21731561 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. 2018-05-05T18:13:50Z Left-sided isomerism human_phenotype HP:0031854 Left Isomerism HP:0031854 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. PMID:21731561 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. 2018-05-05T18:15:09Z Right-sided isomerism human_phenotype HP:0031855 Right isomerism HP:0031855 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures. PMID:21731561 An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. 2018-05-05T18:27:42Z human_phenotype HP:0031856 Hobby horse gait HP:0031856 An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward. PMID:21956287 Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. 2018-05-05T18:42:33Z Ineffective esophageal motility human_phenotype HP:0031857 Ineffective esophageal motility can be diagnosed by high-resolution manometry if 50% or more swallows are ineffective (failed or weak with the distal contractile integral less than 450 mmHg/s/cm). Ineffective esophageal peristalsis HP:0031857 Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. PMID:28665309 Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). 2018-05-05T18:45:29Z human_phenotype HP:0031858 Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis. Esophageal furrows HP:0031858 Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus). PMID:25368745 Any abnormality in the variability of the time interval between successive heartbeats. 2018-05-05T21:02:07Z human_phenotype HP:0031860 Abnormal heart rate variability HP:0031860 Any abnormality in the variability of the time interval between successive heartbeats. PMID:8598068 Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. 2018-05-05T21:03:46Z Reduced heart rate variability human_phenotype HP:0031861 Decreased heart rate variability HP:0031861 Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. PMID:8598068 https://orcid.org/0000-0001-5356-4174 Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. 2018-05-05T21:05:04Z human_phenotype HP:0031862 Increased heart rate variability HP:0031862 Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. PMID:8598068 https://orcid.org/0000-0001-5356-4174 The presence of an infectious agent in the blood circulation. 2018-05-05T21:12:23Z human_phenotype HP:0031863 Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms). Bloodstream infectious agent HP:0031863 Presence of viable bacteria in the blood. 2018-05-05T21:13:44Z Bacteria in blood culture Bacteria in blood cultures human_phenotype HP:0031864 Bacteremia HP:0031864 Any functional anomaly of the liver. 2018-05-05T21:20:15Z Abnormal hepatic physiology human_phenotype HP:0031865 Abnormal liver physiology HP:0031865 Any functional anomaly of the liver. https://orcid.org/0000-0002-0736-9199 Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife. 2018-05-05T21:28:20Z human_phenotype HP:0031866 Clasp-knife sign HP:0031866 Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife. https://orcid.org/0000-0002-0736-9199 Increased passive stiffness or tightness of the neck musculature. 2018-05-05T21:31:34Z human_phenotype HP:0031867 Neck hypertonia HP:0031867 Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected. 2018-05-06T13:12:07Z human_phenotype HP:0031868 Optic ataxia is related to a cortical neurological deficit that results from a lesion in the superior parietal lobule (SPL) and areas surrounding the intraparietal sulcus (IPS). The phenomenon is not considered apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs. Therefore, the term "ataxia," derived from the Greek word for "lack of order," is used. Optic ataxia HP:0031868 Dislocation of a given joint repeated times. 2018-05-06T13:19:21Z Recurrent joint dislocations human_phenotype HP:0031869 Recurrent joint dislocation HP:0031869 An elevated concentration of phosphohydroxylysine in the urine. 2018-05-06T13:30:12Z human_phenotype HP:0031870 There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites. Phosphohydroxylysinuria HP:0031870 An elevated concentration of phosphohydroxylysine in the urine. PMID:23242558 https://orcid.org/0000-0002-0736-9199 Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. 2018-05-06T13:33:50Z human_phenotype HP:0031871 Abnormal Langerhans cell morphology HP:0031871 Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis. PMID:29449841 Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. 2018-05-06T13:41:13Z human_phenotype HP:0031872 Absent Birbeck granules in Langerhans cells HP:0031872 Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy. PMID:15816828 https://orcid.org/0000-0002-0736-9199 A tendency towards rising very early in the morning and going to bed early in the evening. 2018-05-06T13:57:20Z Advanced sleep onset human_phenotype Early sleep onset HP:0031873 Early chronotype HP:0031873 A tendency towards rising very early in the morning and going to bed early in the evening. PMID:31786494 A tendency towards waking up very late in the morning and staying up late at night. 2018-05-06T14:03:08Z Delayed sleep onset human_phenotype Late sleep onset HP:0031874 Late chronotype HP:0031874 A tendency towards waking up very late in the morning and staying up late at night. PMID:35360141 Any deviation from the normal concentration of hepcidin in the blood circulation. 2018-05-06T14:11:07Z Abnormal hepcidin level human_phenotype HP:0031875 Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone. Abnormal circulating hepcidin concentration HP:0031875 Any deviation from the normal concentration of hepcidin in the blood circulation. PMID:16450011 https://orcid.org/0000-0002-0736-9199 Concentration of hepcidin in the blood circulation below the lower limit of normal. 2018-05-06T14:13:09Z Decreased hepcidin level human_phenotype HP:0031876 Decreased circulating hepcidin concentration HP:0031876 Concentration of hepcidin in the blood circulation below the lower limit of normal. PMID:16450011 https://orcid.org/0000-0002-0736-9199 Concentration of hepcidin in the blood circulation above the upper limit of normal. 2018-05-06T14:13:19Z Elevated hepcidin level human_phenotype HP:0031877 Elevated circulating hepcidin concentration HP:0031877 Concentration of hepcidin in the blood circulation above the upper limit of normal. PMID:16450011 https://orcid.org/0000-0002-0736-9199 Small hands and feet in proportion to the rest of the body. 2018-05-06T14:37:03Z human_phenotype HP:0031878 Acromicria HP:0031878 Small hands and feet in proportion to the rest of the body. PMID:22043168 https://orcid.org/0000-0002-0736-9199 Any functional abnormality of the eyelid. 2018-05-06T15:39:56Z human_phenotype HP:0031879 Abnormal eyelid physiology HP:0031879 Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. 2018-05-06T15:42:01Z Lid laxity human_phenotype HP:0031880 Eyelid laxity HP:0031880 Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test. https://orcid.org/0000-0003-0986-4123 A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. 2018-05-06T15:54:22Z human_phenotype HP:0031881 Decreased tear drainage HP:0031881 A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct. https://orcid.org/0000-0003-0986-4123 A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. 2018-05-06T16:11:19Z Agyria diffuse human_phenotype HP:0031882 Agyria HP:0031882 A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. http://www.wikidata.org/entity/Q90573458 An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. 2018-05-07T10:24:19Z human_phenotype HP:0031883 Increased proinsulin:insulin ratio HP:0031883 An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. HPO_CONTRIBUTOR:RGD_gthayman A deviation from normal concentration of glucose content in the cerebrospinal fluid. 2018-05-13T13:54:21Z Abnormal CSF glucose level human_phenotype HP:0031884 Abnormal CSF glucose concentration HP:0031884 Abnormally high glucose concentration in the cerebrospinal fluid. 2018-05-13T13:55:26Z Increased CSF glucose human_phenotype HP:0031885 Hyperglycorrhachia HP:0031885 Abnormally high glucose concentration in the cerebrospinal fluid. https://orcid.org/0000-0001-5208-3432 Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. 2018-05-13T14:27:13Z Abnormal LDL-C concentration Abnormal LDL-C level Abnormal LDLc concentration human_phenotype HP:0031886 Abnormal LDL cholesterol concentration HP:0031886 Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. https://orcid.org/0000-0002-0736-9199 Abnormal LDL-C concentration Abnormal LDL-C level Abnormal LDLc concentration Any deviation from the normal circulating concentration of chylomicrons. 2018-05-13T14:32:44Z human_phenotype HP:0031887 Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides. Abnormal chylomicron concentration HP:0031887 Any deviation from the normal concentration of high-density lipoprotein (HDL) cholesterol in the blood circulation. 2018-05-13T14:42:38Z Abnormal circulating HDL-C concentration Abnormal high-density lipoprotein cholesterol level human_phenotype HP:0031888 HDL returns excess cholesterol from cells to the liver via various pathways. Abnormal circulating HDL-C concentration HP:0031888 Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood circulation. 2018-05-13T14:47:34Z Abnormal circulating VLDL-C concentration Abnormal very-low-density lipoprotein cholesterol level human_phenotype HP:0031889 VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body. Abnormal circulating VLDL-C concentration HP:0031889 An elevated concentration of urobilinogen in the urine. 2018-05-13T20:23:52Z human_phenotype HP:0031890 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. Increased urine urobilinogen HP:0031890 Abnormal decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. 2018-05-13T20:35:28Z Decreased eosinophil count human_phenotype HP:0031891 Decreased total eosinophil count HP:0031891 Abnormal decrease of absolute number of eosinophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. https://orcid.org/0000-0002-0736-9199 Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. 2018-05-19T15:09:54Z Increased rouleaux formation human_phenotype HP:0031898 Rouleaux formation HP:0031898 Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells. PMID:16739263 https://orcid.org/0000-0002-0736-9199 Any deviation from the activity of coagulation factor V. 2018-05-19T15:11:38Z Abnormal factor V activity human_phenotype HP:0031899 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. Abnormal coagulation factor V activity HP:0031899 HP:0031901 2018-05-19T15:14:54Z human_phenotype HP:0031900 obsolete Abnormal serum tryptase concentration true HP:0031900 An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. 2018-05-19T15:17:36Z HP:0031900 human_phenotype HP:0031901 Tryptase is a serine protease that is primarily produced and stored in mast cells (MCs) and less abundantly in blood basophils [31-34]. In tissue MCs, tryptase is produced and released in a constitutive manner, regardless of the organ, location of MCs, maturation stage or subtype of MCs. Mature tissue MCs also store larger quantities of the enzyme in their metachromatic granules. Two major forms of tryptase are produced in MCs, alpha-tryptase and beta-tryptase. Whereas the alpha form is produced and released constantly in MCs, the beta-form is primarily stored in MC granules. During an anaphylactic reaction, MCs rapidly release substantial amounts of alpha- and beta tryptases. Current tests measure total tryptase (alpha and beta), not differentiating between these isoforms. The presence of elevated tryptase may occur acutely due to mast cell degranulation. Alternatively, chronic elevation of basal serum tryptase may be present in individuals with: 1) clonal myeloid neoplasms; 2) the genetic trait hereditary alpha-tryptasemia; 3) chronic kidney disease. Serum tryptase levels are useful in the diagnosis of mast cell activation, clonal myeloid disease, and hereditary alpha-tryptasemia. Elevated total serum tryptase HP:0031901 An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. PMID:16372800 PMID:19522836 PMID:25169217 PMID:27749843 PMID:3295549 2018-05-19T15:17:42Z HP:0031901 human_phenotype HP:0031902 Clinically, there is no abnormal reduction in tryptase activity and thus this term was incorrect and should not be used. obsolete Decreased serum mast cell beta-tryptase concentration true HP:0031902 Any deviation from the normal circulating concentration of selenium. 2018-05-19T15:19:13Z Abnormal serum selenium concentration human_phenotype HP:0031903 Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation. Abnormal circulating selenium concentration HP:0031903 Any deviation from the normal circulating concentration of selenium. PMID:26045617 PMID:29494512 https://orcid.org/0000-0002-0736-9199 Any deviation from the normal total hemolytic complement activity in the circulation. 2018-05-19T15:22:54Z Abnormal CH50 human_phenotype HP:0031904 The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity. Abnormal total hemolytic complement activity HP:0031904 An abnormally elevated total hemolytic complement activity in the circulation. 2018-05-19T15:27:17Z human_phenotype HP:0031905 Increased total hemolytic complement activity HP:0031905 An abnormally elevated total hemolytic complement activity in the circulation. https://orcid.org/0000-0002-0736-9199 HP:0025434 2018-05-19T15:27:49Z human_phenotype HP:0031906 obsolete Decreased total hemolytic complement activity true HP:0031906 The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. 2018-05-19T15:34:03Z AMA-M2 positive Anti-pyruvate dehydrogenase antibody positivity human_phenotype HP:0031907 Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. AMAs are biomarkers of primary biliary cirrhosis (PBC) and can also be found in patients with idiopathic inflammatory myopathies. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible Anti-mitochondrial M2 antibody positivity HP:0031907 The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum. PMID:30579751 https://orcid.org/0000-0003-0113-912X AMA-M2 positive Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task. 2018-05-19T15:50:06Z human_phenotype HP:0031908 Micrographia HP:0031908 A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. 2018-06-23T13:42:08Z human_phenotype HP:0031909 A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn. Unicornuate uterus HP:0031909 A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. PMID:28811816 A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. 2018-06-23T13:49:43Z human_phenotype HP:0031910 Abnormal cranial nerve physiology HP:0031910 2018-06-23T13:55:25Z human_phenotype HP:0031911 Abnormal fifth cranial nerve physiology HP:0031911 Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. 2018-06-23T13:56:37Z Trigeminal anaesthesia human_phenotype HP:0031912 Trigeminal anesthesia HP:0031912 Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth. PMID:10653422 PMID:2256843 https://orcid.org/0000-0002-3194-8625 Trigeminal anaesthesia Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. 2018-06-23T17:46:39Z human_phenotype HP:0031913 Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome. Rhombencephalosynapsis HP:0031913 Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. PMID:22451504 https://orcid.org/0000-0002-3194-8625 Varying irregularly over time in severity, amount, or amplitude. 2018-07-01T21:29:25Z human_phenotype HP:0031914 Fluctuating HP:0031914 This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time. 2018-07-01T21:31:19Z human_phenotype HP:0031915 Stable HP:0031915 An open sore on the surface of the skin of a finger or toe. 2018-07-02T00:51:19Z human_phenotype HP:0031917 Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity. Digital ulcer HP:0031917 A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. 2018-07-02T10:46:29Z Ovarian sex cord-stromal tumour human_phenotype HP:0031918 Ovarian sex cord-stromal tumor HP:0031918 A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. NCIT:C4862 PMID:27858568 Ovarian sex cord-stromal tumour Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occurring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. 2018-07-02T10:52:27Z Juvenile type ovarian granulosa cell tumour Ovarian juvenile granulosa cell tumor Ovarian juvenile granulosa cell tumour human_phenotype HP:0031919 Juvenile type ovarian granulosa cell tumor HP:0031919 Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occurring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type. NCIT:C7289 PMID:25788847 Juvenile type ovarian granulosa cell tumour Ovarian juvenile granulosa cell tumour An aggressive granulosa cell tumor that arises from the ovary. 2018-07-02T11:18:43Z Malignant ovarian granulosa cell tumour human_phenotype HP:0031920 Malignant ovarian granulosa cell tumor HP:0031920 An aggressive granulosa cell tumor that arises from the ovary. NCIT:C8403 Malignant ovarian granulosa cell tumour Pain of the gastrocnemius muscle. 2018-07-04T11:57:08Z Calf muscle pain Calf myalgia human_phenotype HP:0031921 The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestation of Crohn disease. Gastrocnemius myalgia HP:0031921 Pain of the gastrocnemius muscle. PMID:29491286 Calf muscle pain The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. 2018-07-04T12:09:29Z Accessory renal artery Double renal artery human_phenotype HP:0031922 Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist. Renal artery duplication HP:0031922 The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body. PMID:15378279 PMID:21475502 Accumulation of blood in the vagina usually due to vaginal obstruction. 2018-07-04T12:19:38Z Haematocolpos human_phenotype HP:0031923 Hematocolpos HP:0031923 Accumulation of blood in the vagina usually due to vaginal obstruction. PMID:29479403 Haematocolpos The presence of linear erythematous palpable cords, often on the lateral trunk. 2018-07-04T12:31:32Z human_phenotype HP:0031924 Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibers Rope sign HP:0031924 The presence of linear erythematous palpable cords, often on the lateral trunk. PMID:16935918 PMID:26131871 A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. 2018-07-04T13:22:47Z human_phenotype HP:0031925 Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth. Rosette HP:0031925 A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub. PMID:16551982 A type of rosette in which the central lumen or hub is filled with fiber-like processes. 2018-07-04T13:24:50Z human_phenotype HP:0031926 The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs. Homer Wright rosette HP:0031926 A type of rosette in which the central lumen or hub is filled with fiber-like processes. PMID:16551982 The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. 2018-07-04T13:26:44Z human_phenotype HP:0031927 A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen. Flexner-Wintersteiner rosette HP:0031927 The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil. PMID:16551982 A type of rosette in which a halo of cells surrounds an empty lumen. 2018-07-04T13:28:48Z human_phenotype HP:0031928 In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings. True ependymal rosette HP:0031928 A type of rosette in which a halo of cells surrounds an empty lumen. PMID:16551982 A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. 2018-07-04T13:30:24Z human_phenotype HP:0031929 The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant. Perivascular pseudorosette HP:0031929 A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel. PMID:16551982 A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. 2018-07-04T13:32:31Z Pineocytomatous rosette human_phenotype HP:0031930 Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma Neurocytic rosette HP:0031930 A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular. PMID:16551982 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. 2018-07-04T20:01:21Z human_phenotype HP:0031931 Ocular flutter HP:0031931 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. PMID:17314191 https://orcid.org/0000-0003-0986-4123 Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity. 2018-07-04T20:38:35Z Left ventricle to aorta tunnel human_phenotype HP:0031932 ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood. Aorto-left ventricular tunnel HP:0031932 Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity. PMID:26085759 The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. 2018-07-04T20:40:18Z Right ventricle to aorta tunnel human_phenotype HP:0031933 Aorto-right ventricular tunnel HP:0031933 The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle. PMID:27525240 A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen. 2018-07-04T20:44:36Z human_phenotype HP:0031934 Abnormal descending aorta morphology HP:0031934 Significant luminal narrowing of a long segment of or the entire ascending aorta. 2018-07-04T20:46:37Z human_phenotype HP:0031935 Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta. Ascending aorta hypoplasia HP:0031935 Significant luminal narrowing of a long segment of or the entire ascending aorta. PMID:13938144 A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. 2018-07-04T21:00:51Z Delayed walking human_phenotype HP:0031936 Delayed ability to walk HP:0031936 Speech that is abnormally fast as compared to the perceived cultural norm. 2018-07-04T21:09:19Z Fast speech Tachylogia human_phenotype HP:0031937 Tachylalia can also be used for speech that is faster compared to the baseline of the individual. Tachylalia HP:0031937 Tachylogia https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). 2018-07-05T13:09:44Z Abnormal conus medullaris morphology human_phenotype HP:0031938 The tapering end of the conus terminalis continues as the filum terminale. Abnormal conus terminalis morphology HP:0031938 2018-07-05T13:14:07Z human_phenotype HP:0031939 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. Conus terminalis arteriovenous malformation HP:0031939 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis. PMID:27485904 Any structural anomaly of the portal venous system, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. 2018-07-05T13:39:22Z human_phenotype HP:0031941 Abnormal portal venous system morphology HP:0031941 Any structural anomaly of the portal venous system, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins. PMID:11796904 Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. 2018-07-05T13:42:31Z CAPV Missing portal vein human_phenotype HP:0031942 Congenital absence of portal vein HP:0031942 Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts. PMID:18932274 PMID:2053351 CAPV A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. 2018-07-05T13:57:19Z human_phenotype HP:0031943 Akathisia HP:0031943 A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria. PMID:17974927 An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. 2018-07-05T14:02:51Z Pleural incrassation human_phenotype HP:0031944 Pleural thickening HP:0031944 An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. PMID:23287997 An increased concentration of N,N-dimethylglycine in the circulation. 2018-07-06T11:54:09Z Elevated N,N-dimethylglycine level human_phenotype HP:0031945 An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH), which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine. Elevated circulating N,N-dimethylglycine concentration HP:0031945 An increased concentration of N,N-dimethylglycine in the urine. 2018-07-06T11:59:21Z human_phenotype HP:0031946 Elevated urinary N,N-dimethylglycine level HP:0031946 An unintentional, oscillating to-and-fro muscle movement affecting the tongue. 2018-07-06T12:11:14Z human_phenotype Jerky movements of the tongue HP:0031947 Tongue tremor HP:0031947 Jerky movements of the tongue Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. 2018-07-06T12:16:20Z human_phenotype HP:0031948 Snowball lesion of corpus callosum HP:0031948 Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome. PMID:24663235 PMID:26991403 An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). 2018-07-06T12:24:36Z Recurrent bacterial URI human_phenotype HP:0031949 Recurrent bacterial upper respiratory tract infections HP:0031949 An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). PMID:26424818 Recurrent bacterial URI Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. 2018-07-06T12:27:18Z human_phenotype HP:0031950 Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD). Usual interstitial pneumonia HP:0031950 Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. PMID:26666486 PMID:8697837 Seizures that occur while the affected individual is sleeping. 2018-07-07T12:33:57Z Sleep seizures human_phenotype HP:0031951 Nocturnal seizures HP:0031951 Seizures that occur while the affected individual is sleeping. PMID:22334817 PMID:23385697 PMID:25941204 Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. 2018-07-07T13:44:53Z human_phenotype HP:0031952 Neurogenic claudication HP:0031952 Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine. PMID:27770207 Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen. 2018-07-07T13:46:20Z Senile gait human_phenotype HP:0031953 Cautious gait HP:0031953 Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. 2018-07-07T13:48:21Z human_phenotype HP:0031954 Dystonic gait HP:0031954 Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. PMID:27770207 To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. 2018-07-07T13:50:24Z human_phenotype Limp HP:0031955 Antalgic gait HP:0031955 To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. PMID:27770207 The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. 2018-07-07T13:54:55Z Aspartate aminotransferase increased Elevated serum AST Elevated serum aspartate aminotransferase Elevated serum glutamic oxaloacetic transaminase human_phenotype HP:0031956 Elevated circulating aspartate aminotransferase concentration HP:0031956 Elevated serum AST Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. 2018-07-07T14:01:46Z Wernicke-Mann gait human_phenotype HP:0031957 Spastic hemiparetic gait HP:0031957 Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster. PMID:27770207 A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. 2018-07-07T14:02:38Z human_phenotype HP:0031958 Spastic paraparetic gait HP:0031958 A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. PMID:27770207 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. 2018-07-07T14:23:39Z human_phenotype HP:0031959 Leg dystonia HP:0031959 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. 2018-07-07T14:24:40Z human_phenotype HP:0031960 Arm dystonia HP:0031960 Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. 2018-07-07T14:27:01Z human_phenotype HP:0031961 The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability. Abnormal serum anion gap HP:0031961 Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration. PMID:17699401 An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). 2018-07-07T14:29:56Z human_phenotype HP:0031962 Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently. Elevated serum anion gap HP:0031962 An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). PMID:17699401 An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). 2018-07-07T14:31:52Z human_phenotype HP:0031963 Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide. Decreased serum anion gap HP:0031963 An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). PMID:17699401 An abnormally high concentration in the circulation of alanine aminotransferase (ALT). 2018-07-07T14:37:06Z Alanine aminotransferase increased Elevated serum ALT Elevated serum alanine aminotransferase Elevated serum glutamic-pyruvic transaminase human_phenotype HP:0031964 Alanine aminotransferase (ALT) is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells. Elevated circulating alanine aminotransferase concentration HP:0031964 An abnormally high concentration in the circulation of alanine aminotransferase (ALT). PMID:18366115 Elevated serum ALT Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. 2018-07-07T14:42:53Z Increased red blood cell distribution width human_phenotype HP:0031965 Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure. Increased RBC distribution width HP:0031965 Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. PMID:27867951 PMID:28683798 The appearance of the urine having visible material in suspension, i.e., appearing cloudy. 2018-07-07T23:20:18Z human_phenotype Turbid urine HP:0031967 Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus. Cloudy urine HP:0031967 An abnormally low concentration of urea nitrogen in the blood. 2018-07-07T23:28:55Z Reduced BUN human_phenotype HP:0031969 Reduced blood urea nitrogen HP:0031969 Reduced BUN Any deviation from the normal concentration of urea nitrogen in the blood. 2018-07-07T23:29:10Z Abnormal BUN concentration human_phenotype HP:0031970 Abnormal blood urea nitrogen concentration HP:0031970 Abnormal BUN concentration A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. 2018-07-07T23:58:07Z human_phenotype HP:0031971 Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort. Subaortic ventricular septal bulge HP:0031971 A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy. PMID:25129067 PMID:9203495 https://orcid.org/0000-0001-5835-5515 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. 2018-07-08T00:03:46Z human_phenotype HP:0031972 Presyncope HP:0031972 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. https://orcid.org/0000-0001-5835-5515 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. 2018-07-08T00:08:21Z human_phenotype HP:0031973 Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disk and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter. Increased vertical cup-to-disc ratio HP:0031973 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk. https://orcid.org/0000-0003-0986-4123 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:13:08Z human_phenotype HP:0031974 Increased vertical cup-to-disc ratio - 0.6 HP:0031974 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3). https://orcid.org/0000-0003-0986-4123 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:02Z human_phenotype HP:0031975 Increased vertical cup-to-disc ratio - 0.7 HP:0031975 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3). https://orcid.org/0000-0003-0986-4123 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:07Z human_phenotype HP:0031976 Increased vertical cup-to-disc ratio - 0.8 HP:0031976 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3). https://orcid.org/0000-0003-0986-4123 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:12Z human_phenotype HP:0031977 Increased vertical cup-to-disc ratio - 0.9 HP:0031977 Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3). https://orcid.org/0000-0003-0986-4123 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). 2018-07-08T00:15:23Z human_phenotype HP:0031978 Increased vertical cup-to-disc ratio - 1.0 HP:0031978 Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3). https://orcid.org/0000-0003-0986-4123 Any deviation from the normal concentration of a carbohydrate in the urine. 2018-07-08T12:53:24Z human_phenotype HP:0031979 Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found. Abnormal urine carbohydrate level HP:0031979 Any deviation from the normal concentration of a carboxylic acid in the urine. 2018-07-08T13:01:16Z human_phenotype HP:0031980 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). Abnormal urine carboxylic acid level HP:0031980 An increased concentration of glycolate in the urine. 2018-07-08T13:03:26Z human_phenotype HP:0031981 Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate. Elevated urine glycolate HP:0031981 An increased concentration of glycolate in the urine. PMID:2031609 Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. 2018-07-08T13:26:57Z human_phenotype HP:0031982 Abnormal putamen morphology HP:0031982 This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. 2018-07-08T13:38:01Z Abnormal chest radiograph finding (lung) human_phenotype HP:0031983 Abnormal pulmonary thoracic imaging finding HP:0031983 A piece of food that has gotten stuck in the esophagus and prevents further swallowing. 2018-07-08T14:55:36Z human_phenotype HP:0031984 Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently. Esophageal food impaction HP:0031984 A piece of food that has gotten stuck in the esophagus and prevents further swallowing. PMID:21960934 An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. 2018-07-08T14:58:59Z human_phenotype HP:0031985 Esophageal exudate HP:0031985 An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa. PMID:22919257 Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement). 2018-07-09T01:38:21Z Minipolymyoclonus Facial-faucial-finger minimyoclonus human_phenotype HP:0031986 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. This term includes facial-faucial-finger minimyoclonus observed in Kufor-Rakeb syndrome. Polyminimyoclonus HP:0031986 Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement). PMID:21339907 PMID:34062647 PMID:35609988 The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities. 2018-07-09T01:48:46Z Concentration problems Labored thinking Lack of concentration Poor concentration human_phenotype HP:0031987 Diminished ability to concentrate HP:0031987 The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities. PMID:26386541 Concentration problems https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Lack of concentration https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Poor concentration https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 HP:0003394 2018-07-09T10:41:04Z human_phenotype HP:0031988 obsolete Muscle spasm true HP:0031988 A sudden involuntary contraction of the musculature surrounding the mouth. 2018-07-09T14:40:12Z human_phenotype HP:0031989 Perioral spasm HP:0031989 A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. 2018-07-09T14:41:30Z human_phenotype HP:0031990 The Chvostek sign is considered to be a clinical indicator of hypocalcemia. Chvostek sign HP:0031990 A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve. PMID:22970971 PMID:29443134 An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. 2018-07-09T15:24:43Z human_phenotype HP:0031991 Increased urinary excretion of galactosyl hydroxylysine HP:0031991 An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption. PMID:10222355 Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. 2018-07-09T15:40:34Z human_phenotype HP:0031992 Apical hypertrophic cardiomyopathy HP:0031992 Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. PMID:23109785 PMID:8685759 https://orcid.org/0000-0001-5835-5515 A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. 2018-07-15T18:58:09Z Hoffmann's sign human_phenotype HP:0031993 The Hoffmann sign is regarded to be test for disease of the corticospinal pathways. Hoffmann sign HP:0031993 A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. PMID:11813951 PMID:20229121 Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. 2018-07-15T19:45:30Z human_phenotype HP:0031994 Bronchial breath sound HP:0031994 Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy. PMID:26229557 Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. 2018-07-15T19:48:18Z human_phenotype HP:0031995 Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans. Squawks HP:0031995 Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles. PMID:26229557 Crackles that are heard during the inspiratory phase. 2018-07-15T21:46:52Z human_phenotype HP:0031996 Inspiratory crackles HP:0031996 Crackles that are heard during the inspiratory phase. PMID:26229557 Crackles that appear at the beginning of inspiration and end before mid-inspiration. 2018-07-15T21:47:37Z human_phenotype HP:0031997 Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration. Early inspiratory crackles HP:0031997 Crackles that appear at the beginning of inspiration and end before mid-inspiration. PMID:26229557 Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. 2018-07-15T21:49:08Z human_phenotype HP:0031998 Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP). Late inspiratory crackles HP:0031998 Crackles that appear any time after the beginning of inspiration and last till the end of inspiration. PMID:26229557 Crackles that occur during expiration. 2018-07-15T21:50:28Z human_phenotype HP:0031999 Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles. Expiratory crackles HP:0031999 Crackles that occur during expiration. PMID:26229557 An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles 2018-07-15T21:53:13Z human_phenotype HP:0032000 Pleural rub HP:0032000 An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles PMID:26229557 An abnormal pink color of urine. 2018-07-15T21:57:17Z human_phenotype HP:0032001 Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb. Pink urine HP:0032001 An abnormal orange color of urine. 2018-07-15T21:59:12Z human_phenotype HP:0032002 Orange urine HP:0032002 An abnormal orange color of urine. PMID:18613989 PMID:29967083 An abnormal green color of urine. 2018-07-15T22:05:52Z human_phenotype HP:0032003 Green urine HP:0032003 An abnormal green color of urine. PMID:28413291 A sensation of itching in the vulvar region. 2018-07-15T22:20:09Z human_phenotype HP:0032004 Pruritus vulvae HP:0032004 Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. 2018-07-17T12:51:59Z human_phenotype HP:0032005 In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops. Hemidystonia HP:0032005 Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. PMID:11784827 PMID:4031909 An unintentional, oscillating to-and-fro muscle movement affecting the lip. 2018-07-17T13:06:59Z human_phenotype HP:0032006 Lip tremor HP:0032006 A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. 2018-07-17T13:09:36Z Maceration of the skin Skin maceration human_phenotype HP:0032007 Maceration HP:0032007 A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. PMID:12192848 The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. 2018-07-17T13:39:35Z Fat embolism human_phenotype HP:0032008 Pulmonary fat embolism HP:0032008 The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung. PMID:24468004 https://orcid.org/0000-0001-5208-3432 Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. 2018-07-22T15:37:33Z Infantile (constant) exotropia human_phenotype HP:0032009 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). Infantile constant exotropia HP:0032009 Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. https://orcid.org/0000-0003-0986-4123 Constant exotropia for near and distance, presenting after 6 months of age. 2018-07-22T15:39:30Z Basic (constant) exotropia human_phenotype HP:0032010 Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750). Basic constant exotropia HP:0032010 Constant exotropia for near and distance, presenting after 6 months of age. https://orcid.org/0000-0003-0986-4123 Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs. 2018-07-22T15:44:43Z human_phenotype HP:0032011 In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. Heterophoria HP:0032011 Manifest deviation of the visual axes not controlled by fusion. 2018-07-22T15:46:55Z human_phenotype HP:0032012 The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia. Heterotropia HP:0032012 Manifest deviation of the visual axes not controlled by fusion. https://orcid.org/0000-0003-0986-4123 Overshoot of horizontal (sideways) saccadic eye movements. 2018-07-22T16:28:02Z human_phenotype HP:0032013 Hypermetric horizontal saccades HP:0032013 Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. 2018-07-22T16:29:12Z human_phenotype HP:0032014 Dysmetric vertical saccades HP:0032014 Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. https://orcid.org/0000-0003-0986-4123 Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. 2018-07-22T16:33:04Z human_phenotype HP:0032015 Dysmetric horizontal saccades HP:0032015 Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction. https://orcid.org/0000-0003-0986-4123 Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. 2018-08-25T12:36:36Z Abnormal sputum morphology human_phenotype HP:0032016 Abnormal sputum HP:0032016 An increased proportion of eosinophils in sputum in the differentiated cell count. 2018-08-25T12:39:58Z human_phenotype HP:0032017 Sputum eosinophilia can be measured in various ways including measuring the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma. Sputum eosinophilia HP:0032017 An increased proportion of eosinophils in sputum in the differentiated cell count. PMID:23741092 PMID:29146301 https://orcid.org/0000-0002-0736-9199 A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. 2018-08-25T15:36:22Z Mononeuritis multiplex human_phenotype HP:0032018 Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions. Multiple mononeuropathy HP:0032018 A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially. PMID:25494723 https://orcid.org/0000-0002-0736-9199 Eosinophil infiltration of skeletal muscle. 2018-08-25T15:42:46Z Eosinophilic infiltration of skeletal muscle human_phenotype HP:0032019 This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy. Muscle eosinophilia HP:0032019 Eosinophil infiltration of skeletal muscle. PMID:24424174 PMID:24803842 https://orcid.org/0000-0002-0736-9199 Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. 2018-08-25T15:48:26Z Eosinophilic cystitis human_phenotype HP:0032020 Eosinophilic bladder infiltration HP:0032020 Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis. PMID:15857336 PMID:28829677 Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. 2018-08-25T15:51:03Z human_phenotype Eosinophilic hepatitis HP:0032021 Eosinophilic liver infiltration HP:0032021 Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. PMID:20457690 PMID:7835024 https://orcid.org/0000-0002-0736-9199 Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. 2018-09-01T13:38:35Z Eosinophilic dermatitis human_phenotype HP:0032022 Eosinophilic dermal infiltration HP:0032022 Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils. PMID:23730155 PMID:6724778 Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. 2018-09-01T13:49:40Z Eosinophilic cholecystitis human_phenotype HP:0032023 Eosinophilic gallbladder infiltration HP:0032023 Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination. PMID:27872806 An erosion of the mucous membrane in a portion of the ileum. 2018-09-01T14:06:31Z human_phenotype HP:0032024 Ileal ulcer HP:0032024 An erosion of the mucous membrane in a portion of the ileum. PMID:28670609 The concentration of alpha-1-antitrypsin in the blood circulation is below the lower limit of normal. 2018-09-01T14:16:39Z Decreased alpha-1-antitrypsin concentration Decreased alpha-1-antitrypsin level Decreased alpha-1-antitrypsin level in blood Decreased circulating alpha-1-antitrypsin concentration Reduced alpha-1-antitrypsin concentration Reduced alpha-1-antitrypsin level Reduced alpha-1-antitrypsin level in blood Reduced serum alpha-1-antitrypsin human_phenotype HP:0032025 Decreased circulating alpha-1-antitrypsin concentration HP:0032025 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. 2018-09-01T14:38:17Z human_phenotype HP:0032026 Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat. Anetoderma HP:0032026 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis. PMID:20652064 PMID:28116317 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. 2018-09-01T14:43:45Z human_phenotype HP:0032027 Retinal dots HP:0032027 Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. https://orcid.org/0000-0003-0986-4123 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. 2018-09-01T14:44:49Z human_phenotype HP:0032028 Macular dots HP:0032028 Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size. https://orcid.org/0000-0003-0986-4123 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. 2018-09-01T14:47:22Z human_phenotype HP:0032029 Floppy eyelid HP:0032029 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis. PMID:26139650 https://orcid.org/0000-0003-0986-4123 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearance of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. 2018-09-01T14:49:57Z human_phenotype HP:0032030 Lateral canthal tendon laxity HP:0032030 Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearance of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed. https://orcid.org/0000-0003-0986-4123 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. 2018-09-01T14:50:46Z human_phenotype HP:0032031 Medial canthal tendon laxity HP:0032031 Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally. https://orcid.org/0000-0003-0986-4123 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. 2018-09-01T14:51:32Z human_phenotype HP:0032032 Horizontal eyelid laxity HP:0032032 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present. https://orcid.org/0000-0003-0986-4123 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. 2018-09-01T14:52:17Z human_phenotype HP:0032033 Vertical eyelid laxity HP:0032033 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present. https://orcid.org/0000-0003-0986-4123 Abnormally lax upper eyelid associated with tissue relaxation. 2018-09-01T14:52:53Z human_phenotype HP:0032034 Upper eyelid laxity HP:0032034 Abnormally lax upper eyelid associated with tissue relaxation. https://orcid.org/0000-0003-0986-4123 Abnormally lax lower eyelid associated with tissue relaxation. 2018-09-01T14:53:46Z human_phenotype HP:0032035 Lower eyelid laxity HP:0032035 Abnormally lax lower eyelid associated with tissue relaxation. https://orcid.org/0000-0003-0986-4123 An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. 2018-09-01T15:21:51Z Abnormal contrast sensitivity human_phenotype HP:0032036 Reduced contrast sensitivity HP:0032036 An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target. PMID:12809156 https://orcid.org/0000-0003-0986-4123 Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3. 2018-09-01T15:45:56Z Mild reduction in visual acuity Mild vision loss Mild visual loss human_phenotype HP:0032037 A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters. Mildly reduced visual acuity HP:0032037 An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. 2018-09-03T00:17:49Z human_phenotype HP:0032039 Abnormality of the ocular adnexa HP:0032039 A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. 2018-09-03T00:18:45Z human_phenotype HP:0032040 Abnormal ocular adnexa physiology HP:0032040 A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. 2018-09-08T01:50:44Z human_phenotype HP:0032041 In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps. Vocal cord polyp HP:0032041 A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color. PMID:26628451 PMID:29749984 Pain experienced with swallowing. 2018-09-16T10:35:02Z Painful swallowing human_phenotype HP:0032043 Odynophagia HP:0032043 Painful swallowing A decrease in the ability to maintain sustained attention is characterized by reduced alertness. 2018-09-16T10:41:34Z Decreased alertness human_phenotype HP:0032044 Decreased vigilance HP:0032044 Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse. 2018-09-16T10:47:06Z human_phenotype HP:0032045 Hypoplastic carotid canal HP:0032045 A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. 2018-09-16T10:55:37Z human_phenotype HP:0032046 Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood. Focal cortical dysplasia HP:0032046 A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. PMID:12707084 A type of focal cortical dysplasia that is characterized by abnormal cortical layering. 2018-09-16T11:00:11Z human_phenotype HP:0032047 Focal cortical dysplasia type I HP:0032047 A type of focal cortical dysplasia that is characterized by abnormal cortical layering. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. 2018-09-16T11:03:23Z human_phenotype HP:0032048 Focal cortical dysplasia type Ia HP:0032048 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. 2018-09-16T11:05:32Z human_phenotype HP:0032049 Focal cortical dysplasia type Ib HP:0032049 A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. 2018-09-16T11:06:34Z human_phenotype HP:0032050 Focal cortical dysplasia type Ic HP:0032050 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. 2018-09-16T11:09:13Z human_phenotype HP:0032051 Focal cortical dysplasia type II HP:0032051 A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. 2018-09-16T11:11:20Z human_phenotype HP:0032052 There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Focal cortical dysplasia type IIa HP:0032052 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. 2018-09-16T11:12:48Z human_phenotype HP:0032053 Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly. Focal cortical dysplasia type IIb HP:0032053 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. 2018-09-16T11:15:25Z human_phenotype HP:0032054 Focal cortical dysplasia type III HP:0032054 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). 2018-09-16T11:16:43Z human_phenotype HP:0032055 Focal cortical dysplasia type IIIa HP:0032055 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis). PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. 2018-09-16T11:18:31Z human_phenotype HP:0032056 This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process. Focal cortical dysplasia type IIIb HP:0032056 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). 2018-09-16T11:23:39Z human_phenotype HP:0032057 Focal cortical dysplasia type IIIc HP:0032057 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis). PMID:21219302 http://www.wikidata.org/entity/Q90573458 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. 2018-09-16T11:25:19Z human_phenotype HP:0032058 Focal cortical dysplasia type IIId HP:0032058 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. 2018-09-16T11:35:14Z human_phenotype HP:0032059 Mild malformation of cortical development HP:0032059 A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. PMID:21219302 http://www.wikidata.org/entity/Q90573458 A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. 2018-09-16T11:50:05Z Angiolymphoid hyperplasia with eosinophilia human_phenotype HP:0032060 Epithelioid hemangioma is most common in middle-aged adults. Epithelioid hemangioma HP:0032060 A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area. NCIT:C4298 PMID:25484503 PMID:25927152 Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre. 2018-09-16T11:54:44Z Hypereosinophilia human_phenotype HP:0032061 Typically eosinophils in the blood are less than 0.5 billion cells per liter, corresponding to less than 5 percent of leukocytes. This term refers to a marked degree of eosinophilia with more than 1.5 billion cells per liter. Severely increased total eosinophil count HP:0032061 Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre. PMID:20538328 Vomiting-induced mucosal laceration at the esophago-gastric junction. 2018-09-16T12:01:42Z human_phenotype HP:0032062 Mallory-Weiss tear HP:0032062 Vomiting-induced mucosal laceration at the esophago-gastric junction. PMID:22560400 Abnormal accumulation of fluid in or around the ankle joint. 2018-09-16T12:08:37Z human_phenotype HP:0032063 Ankle joint effusion HP:0032063 Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. 2018-09-16T12:23:19Z Eosinophilic enteritis Eosinophilic gastroenteritis GI eosinophilia human_phenotype Eosinophilic gastrointestinal disease Eosinophilic gastrointestinal disorders HP:0032064 Gastrointestinal eosinophilia HP:0032064 Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them. PMID:17868858 PMID:23964139 GI eosinophilia Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation. 2018-09-23T14:32:07Z Abnormal serum HCO3 concentration Abnormal serum bicarbonate concentration human_phenotype HP:0032065 Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount. Abnormal circulating bicarbonate concentration HP:0032065 Abnormal serum HCO3 concentration An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. 2018-09-23T14:36:14Z Decreased serum HCO3 concentration human_phenotype HP:0032066 Decreased serum bicarbonate concentration HP:0032066 Decreased serum HCO3 concentration An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation. 2018-09-23T14:36:57Z Elevated serum HCO3 concentration human_phenotype HP:0032067 Elevated serum bicarbonate concentration HP:0032067 Elevated serum HCO3 concentration An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. 2018-09-30T14:35:24Z human_phenotype HP:0032068 Increased urinary mucus HP:0032068 An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis. PMID:8126784 The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. 2018-09-30T14:43:28Z Anti-thyroid globulin antibody positivity TgAbs human_phenotype HP:0032069 The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor. Anti-thyroglobulin antibody positivity HP:0032069 The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. PMID:21196203 PMID:33144894 PMID:33999913 PMID:34634575 https://orcid.org/0000-0002-3387-1836 TgAbs Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. 2018-09-30T15:02:42Z human_phenotype HP:0032070 Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement. Leptomeningeal enhancement HP:0032070 Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. PMID:17374867 The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. 2018-09-30T15:15:06Z Eosinophilic pulmonary infiltration Pulmonary eosinophilic infiltrate Pulmonary eosinophilic infiltration human_phenotype Pulmonary eosinophilia HP:0032071 Pulmonary function testing usually reveals a restrictive process with reduced diffusion capacity for carbon monoxide. Laboratory tests typical include increased levels of eosinophils in the blood, a high erythrocyte sedimentation rate, iron deficiency anemia, and increased platelets. Eosinophilic pneumonia HP:0032071 The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia. PMID:19618037 PMID:21428117 A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. 2018-10-13T11:41:38Z Baker's cyst human_phenotype HP:0032072 Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size. Popliteal synovial cyst HP:0032072 A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. PMID:25102502 PMID:26137182 Aplasia, that is failure to develop, of the fallopian tube. 2018-10-13T11:45:07Z human_phenotype HP:0032073 Aplasia of the fallopian tube HP:0032073 Fusion of the pancreatic tail and spleen. 2018-10-13T12:42:41Z human_phenotype HP:0032075 Splenopancreatic fusion HP:0032075 Fusion of the pancreatic tail and spleen. PMID:18398855 https://orcid.org/0000-0001-5208-3432 2018-10-14T13:36:20Z human_phenotype HP:0032076 Abnormal male urethral meatus morphology HP:0032076 An abnormal narrowing of the urethral opening (meatus) of the penis. 2018-10-14T13:40:16Z Meatal stenosis Meatus stenosis human_phenotype HP:0032077 If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym. Male urethral meatus stenosis HP:0032077 An abnormal narrowing of the urethral opening (meatus) of the penis. PMID:28537045 A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). 2018-10-14T13:49:41Z human_phenotype HP:0032078 In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure. Angel-shaped phalanx HP:0032078 A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head). PMID:8267010 Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. 2018-10-14T14:47:59Z human_phenotype HP:0032079 Medial degeneration HP:0032079 Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections. PMID:27031798 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. 2018-10-14T14:53:06Z human_phenotype HP:0032081 Intralamellar mucoid extracellular matrix accumulation HP:0032081 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units. PMID:27031798 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. 2018-10-14T14:53:33Z human_phenotype HP:0032082 Translamellar mucoid extracellular matrix accumulation HP:0032082 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees. PMID:27031798 Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. 2018-10-14T14:56:34Z Aortic elastic fibre fragmentation human_phenotype HP:0032083 Aortic elastic fiber fragmentation HP:0032083 Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers. PMID:27031798 Aortic elastic fibre fragmentation A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. 2018-10-14T14:57:36Z Aortic elastic fibre thinning human_phenotype HP:0032084 A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion. Aortic elastic fiber thinning HP:0032084 A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers. PMID:27031798 Aortic elastic fibre thinning Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. 2018-10-14T14:58:51Z Aortic elastic fibre disorganisation human_phenotype HP:0032085 This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting. Aortic elastic fiber disorganization HP:0032085 Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers. PMID:27031798 Aortic elastic fibre disorganisation A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. 2018-10-14T15:00:16Z human_phenotype HP:0032086 Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes. Aortic smooth muscle cell nuclei loss HP:0032086 A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain. PMID:27031798 Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. 2018-10-14T15:03:08Z human_phenotype HP:0032087 Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells. Aortic laminar medial collapse HP:0032087 Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers. PMID:27031798 Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. 2018-10-14T15:04:49Z Aortic smooth muscle cell disorganisation human_phenotype HP:0032088 Aortic smooth muscle cell disorganization HP:0032088 Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells. PMID:27031798 Aortic smooth muscle cell disorganisation An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). 2018-10-14T15:05:54Z human_phenotype HP:0032089 Aortic medial fibrosis HP:0032089 An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units). PMID:27031798 A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. 2018-10-14T15:08:14Z human_phenotype HP:0032090 Intralamellar aortic medial fibrosis HP:0032090 A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units. PMID:27031798 A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. 2018-10-14T15:08:22Z human_phenotype HP:0032091 Translamellar aortic medial fibrosis HP:0032091 A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units. PMID:27031798 Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. 2018-10-14T15:15:58Z human_phenotype HP:0032092 Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO. Left ventricular outflow tract obstruction HP:0032092 Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. PMID:29262119 The concentration of surfactant protein in the blood circulation is above the upper limit of normal. 2018-11-04T10:03:02Z Increased serum surfactant protein level human_phenotype HP:0032094 Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. Elevated circulating surfactant protein concentration HP:0032094 Any deviation from the normal concentration of manganese cation in the blood circulation. 2018-11-04T11:11:31Z Abnormal manganese cation level Abnormal manganese concentration human_phenotype HP:0032096 Abnormal circulating manganese concentration HP:0032096 The concentration of manganese cation in the blood circulation is above the upper limit of normal. 2018-11-04T11:12:18Z Elevated manganese cation concentration Elevated manganese cation level Elevated manganese cation level in blood Hypermanganesemia Increased blood manganese concentration Increased manganese cation concentration Increased manganese cation level Increased manganese cation level in blood human_phenotype HP:0032097 Hypermanganesemia HP:0032097 The concentration of manganese cation in the blood circulation is above the upper limit of normal. PMID:29382362 The concentration of manganese cation in the blood circulation is below the lower limit of normal. 2018-11-04T11:14:54Z Decreased manganese cation concentration Decreased manganese cation level Decreased manganese cation level in blood Hypomanganesemia Reduced manganese cation concentration Reduced manganese cation level Reduced manganese cation level in blood human_phenotype HP:0032098 Hypomanganesemia HP:0032098 The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). 2018-11-04T11:17:31Z human_phenotype HP:0032099 Perioral radial furrowing HP:0032099 The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976). PMID:27833976 The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. 2018-11-04T11:33:35Z human_phenotype HP:0032100 Abnormal doll's eye reflex HP:0032100 The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage. PMID:7299406 Increased susceptibility to infection, as manifested by recurrent infection, severe or invasive infection, infection occurring in an unusual anatomical location, or infection with opportunistic organisms, that is unusual for a healthy individual of the same age. 2018-11-04T22:23:03Z human_phenotype HP:0032101 There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. Unusual infection HP:0032101 Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. 2018-11-04T22:45:32Z human_phenotype HP:0032102 Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait. Wilson sign HP:0032102 Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia. PMID:12975201 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. 2018-11-04T23:03:21Z Saccadic oscillations human_phenotype HP:0032104 Saccadic oscillation HP:0032104 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade. https://orcid.org/0000-0003-0986-4123 Saccadic oscillations A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. 2018-11-04T23:04:28Z HP:0032117 Macrosaccadic oscillation human_phenotype HP:0032105 Macrosaccadic oscillation is usually observed in acute damage to the dorsal cerebellum involving the deep cerebellar nuclei, as in demyelination, tumor or haematoma. Macrosaccadic oscillations HP:0032105 A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. PMID:14681893 Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. 2018-11-17T13:40:31Z Scleral icterus Yellow conjunctiva Yellow sclera Yellowing of the whites of the eyes human_phenotype HP:0032106 Conjunctival icterus HP:0032106 Yellowing of the whites of the eyes A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. 2018-11-17T14:09:53Z human_phenotype HP:0032107 The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia. Limbal stem cell deficiency HP:0032107 A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. PMID:26788074 https://orcid.org/0000-0003-0986-4123 A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. 2018-11-17T14:16:34Z Mild reduction in contrast sensitivity human_phenotype HP:0032108 Mildly reduced contrast sensitivity HP:0032108 A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss. https://orcid.org/0000-0003-0986-4123 A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. 2018-11-17T14:18:29Z Moderate reduction in contrast sensitivity human_phenotype HP:0032109 Moderately reduced contrast sensitivity HP:0032109 A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss. https://orcid.org/0000-0003-0986-4123 A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. 2018-11-17T14:20:27Z human_phenotype HP:0032110 Severely reduced contrast sensitivity HP:0032110 A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss. https://orcid.org/0000-0003-0986-4123 An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. 2018-11-17T14:23:03Z human_phenotype HP:0032111 Abnormal Vistech contrast sensitivity test HP:0032111 An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test. PMID:1911660 An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. 2018-11-17T14:25:09Z human_phenotype HP:0032112 Abnormal Pelli Robson contrast sensitivity chart test HP:0032112 An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast. PMID:16723494 https://orcid.org/0000-0003-0986-4123 A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected. 2018-11-17T14:33:51Z Semidominant mode of inheritance human_phenotype HP:0032113 Familial hypercholesterolemia is an example of a disease with this inheritance pattern. Semidominant inheritance HP:0032113 A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected. https://orcid.org/0000-0001-5243-225X https://orcid.org/0000-0001-5298-0168 https://orcid.org/0000-0002-2650-2426 https://orcid.org/0000-0002-5655-9589 https://orcid.org/0000-0002-6647-5493 https://orcid.org/0000-0002-6733-369X https://orcid.org/0000-0002-8016-0076 https://orcid.org/0000-0002-8218-5111 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. 2018-11-17T14:42:13Z human_phenotype HP:0032114 Saccadic intrusion HP:0032114 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade. https://orcid.org/0000-0003-0986-4123 Horizontal 10-40 degree excursions from fixation and back again. 2018-11-17T14:46:33Z human_phenotype HP:0032116 Macrosquare-wave jerks HP:0032116 Horizontal 10-40 degree excursions from fixation and back again. ISBN:978-0198804550 https://orcid.org/0000-0003-0986-4123 HP:0032105 2018-11-17T10:01:50Z human_phenotype HP:0032117 obsolete Macrosaccadic oscillation true HP:0032117 Inflammation of the retina of the eye. 2018-11-17T14:59:57Z human_phenotype HP:0032118 Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina. Retinitis HP:0032118 Inflammation of the retina of the eye. https://orcid.org/0000-0003-0986-4123 HP:0012109 2018-11-17T15:31:48Z human_phenotype HP:0032119 obsolete Narrow angle glaucoma true HP:0032119 Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. 2018-11-17T16:57:55Z human_phenotype HP:0032120 Abnormal peripheral nervous system physiology HP:0032120 An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. 2018-11-17T16:58:42Z Froment thumb sign human_phenotype HP:0032121 Froment sign HP:0032121 An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. PMID:12916637 A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). 2018-11-18T14:04:38Z human_phenotype HP:0032122 Very low visual acuity HP:0032122 Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590). 2018-11-18T14:06:19Z human_phenotype HP:0032123 Ultra-low vision HP:0032123 Abnormal increase or decrease of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T12:51:44Z Abnormal proportion of non-class-switched memory B cells Abnormal proportion of unswitched memory B cells human_phenotype HP:0032124 Abnormal unswitched memory B cell proportion HP:0032124 Abnormal increase or decrease of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. PMID:28882820 Abnormal increase of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T12:52:52Z Elevated proportion of unswitched memory B cells Increased proportion of non-class-switched memory B cells Increased proportion of unswitched memory B cells human_phenotype HP:0032125 Increased unswitched memory B cell proportion HP:0032125 Abnormal reduction of the unswitched memory B cell subpopulation, commonly characterized as CD27+IgM+, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T12:53:34Z Decreased proportion of non-class-switched memory B cells Decreased proportion of unswitched memory B cells Reduced proportion of unswitched memory B cells human_phenotype HP:0032126 Decreased unswitched memory B cell proportion HP:0032126 Abnormal increase or decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T12:59:19Z human_phenotype HP:0032127 Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67. Plasmablasts are antibody-secreting cells that originate after infection or vaccination. Abnormal plasmablast proportion HP:0032127 Abnormal increase or decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. PMID:22566959 Abnormal increase of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T13:02:17Z human_phenotype HP:0032128 Increased plasmablast proportion HP:0032128 Abnormal decrease of plasmablasts, commonly characterized as CD27+CD38hi and sometimes additionally as IgMlowCD24-, measured as percentage of total B cells in the blood, compared to a reference range for a given sex and age-group. 2018-11-22T13:02:59Z human_phenotype HP:0032129 Decreased plasmablast proportion HP:0032129 Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. 2018-11-22T13:30:48Z human_phenotype HP:0032130 Mycobacterium abscessus abscessus infection HP:0032130 Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections. PMID:26295364 Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. 2018-11-22T13:45:16Z Uterine cervix dysplasia human_phenotype HP:0032131 Cervical dysplasia HP:0032131 Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium. PMID:12525422 A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. 2018-11-22T14:04:50Z Decreased circulating total IgG human_phenotype HP:0032132 Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL. Decreased circulating total IgG concentration HP:0032132 A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. PMID:17910333 A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. 2018-11-22T14:08:44Z human_phenotype HP:0032133 Transient decreased circulating total IgG concentration HP:0032133 A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. 2018-11-22T14:09:15Z Chronic decreased total IgG in blood human_phenotype HP:0032134 Chronic decreased circulating total IgG concentration HP:0032134 A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. 2018-11-22T14:26:10Z Decreased IgG subclass level in blood Decreased circulating IgG subclass level human_phenotype HP:0032135 IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development. Decreased circulating IgG subclass concentration HP:0032135 A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. PMID:17910333 A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation. 2018-11-22T14:29:21Z Decreased IgG1 level in blood Decreased circulating IgG1 level human_phenotype HP:0032136 Decreased circulating IgG1 concentration HP:0032136 A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation. 2018-11-22T14:29:27Z Decreased IgG3 level in blood Decreased circulating IgG3 level human_phenotype HP:0032137 Decreased circulating IgG3 concentration HP:0032137 A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. 2018-11-22T14:29:39Z Decreased IgG4 level in blood Decreased circulating IgG4 level human_phenotype HP:0032138 Decreased circulating IgG4 concentration HP:0032138 A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation. PMID:26929632 Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). 2018-11-22T15:04:35Z Decreased circulating isohemagglutinin level Decreased natural antibody to blood group agents Partial absence of isohemagglutinins human_phenotype HP:0032139 The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB. Decreased circulating isohemagglutinin concentration HP:0032139 Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). PMID:25309532 A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. 2018-11-22T15:08:46Z human_phenotype HP:0032140 Decreased specific antibody response to vaccination HP:0032140 A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. PMID:26018535 A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. 2018-11-22T15:23:39Z human_phenotype HP:0032141 Precordial pain HP:0032141 A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. PMID:18122452 Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. 2018-11-22T15:28:47Z Foetor hepaticus human_phenotype HP:0032142 Fetor hepaticus HP:0032142 Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic. PMID:10791209 Foetor hepaticus An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. 2018-11-22T15:36:33Z human_phenotype HP:0032143 This term implies that there is no obvious oral mucosal lesion causing the pain. Burning mouth HP:0032143 An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa. PMID:25952601 Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. 2018-11-22T15:39:44Z Coffee grounds emesis Coffee grounds vomiting human_phenotype HP:0032144 Coffee ground vomitus HP:0032144 Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit. PMID:19564091 Wasting of the sural nerve, a sensory nerve in the calf region of the leg. 2018-11-22T16:26:37Z Atrophy of sural nerve human_phenotype HP:0032145 Sural nerve atrophy HP:0032145 Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. 2018-11-22T16:41:53Z Haemoglobin C HbC haemoglobin Hemoglobin C human_phenotype HP:0032146 HbC hemoglobin HP:0032146 Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis. PMID:15215497 PMID:20301551 Haemoglobin C HbC haemoglobin Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. 2018-12-02T12:02:08Z human_phenotype HP:0032147 Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity. Erythromelalgia HP:0032147 Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. PMID:26419464 https://orcid.org/0000-0002-1089-1543 Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. 2018-12-02T12:21:16Z human_phenotype HP:0032148 Episodic pain HP:0032148 A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. 2018-12-02T12:26:17Z human_phenotype HP:0032149 Breakthrough pain HP:0032149 A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain. PMID:26438145 Excruciating burning pain in the rectal area that may be triggered by defecation. 2018-12-02T12:29:59Z human_phenotype HP:0032150 Paroxysmal rectal pain HP:0032150 Excruciating burning pain in the rectal area that may be triggered by defecation. PMID:29650526 Recurrent episodes of marked eosinophilia that resolve spontaneously. 2018-12-02T12:56:00Z human_phenotype HP:0032151 Episodic eosinophilia HP:0032151 Recurrent episodes of marked eosinophilia that resolve spontaneously. PMID:25527564 An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. 2018-12-02T13:20:11Z HP:0040180 Carpet tack sign Chicken skin Follicular keratosis Follicular keratotic plug Follicular plugging Hyperkeratosis pilaris Lichen pilaris human_phenotype HP:0032152 Keratosis pilaris is characterized by abnormal keratinisation of the lining of the follicular infundibulum (the upper portion of the hair follicle). Keratin (i.e., scale) fills the follicle instead of exfoliating. Clinically, the keratotic plugs have been referred to as the carpet tack sign since they project up similar to carpet tacks. Keratosis pilaris HP:0032152 An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. PMID:22628989 PMID:27194977 PMID:30043128 Chicken skin A partial dislocation of a joint. 2018-12-02T13:55:17Z human_phenotype HP:0032153 Joint subluxation HP:0032153 Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. 2018-12-02T14:06:55Z Canker sore human_phenotype HP:0032154 Aphthous ulcer HP:0032154 Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. PMID:25346356 Canker sore A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. 2018-12-02T14:21:11Z human_phenotype HP:0032155 Abdominal cramps HP:0032155 Loss of sections of skin either spontaneously or after gentle handling. 2018-12-02T15:19:00Z Detached skin Epidermal detachment Skin sloughing human_phenotype HP:0032156 Skin detachment HP:0032156 Loss of sections of skin either spontaneously or after gentle handling. HPO_CONTRIBUTOR:RGD_gthayman PMID:27656858 Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. 2018-12-02T15:33:20Z human_phenotype HP:0032157 Recurrent genital herpes HP:0032157 Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks. PMID:27532832 An unusual infection classified by the affected body part. 2018-12-09T12:17:59Z human_phenotype HP:0032158 Unusual infection by anatomical site HP:0032158 A meningitis caused by fungal infection, with the principal causative organism being Cryptococcus neoformans (cryptococcal meningitis); other causes include Candida and Coccidioides species. A fungal meningitis is most often a manifestation of unusual susceptibility to infection, particularly in severe T-cell deficiencies. 2018-12-09T12:21:08Z human_phenotype HP:0032159 Fungal meningitis HP:0032159 A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. 2018-12-09T12:26:39Z human_phenotype HP:0032160 Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired. Cryptococcal meningitis HP:0032160 A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. PMID:24715488 A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. 2018-12-09T12:30:16Z human_phenotype HP:0032161 Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis. Coccidioidal meningitis HP:0032161 A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges. PMID:27927853 Increased susceptibility to infection of the skin, nails, or mucous membranes, as manifested by recurrent or severe cutaneous or mucosal infection, or by skin or mucous membrane infection caused by an atypical or opportunistic organism. 2018-12-09T12:47:37Z Unusual skin infection human_phenotype HP:0032162 Recurrent or unusual skin and mucous membrane infections are characteristic of T-cell deficiencies, phagocyte defects, and inborn errors of IL-17 immunity. Unusual skin infection HP:0032162 Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. 2018-12-09T12:51:15Z Molluscum contagiosum Unusual Molluscum contagiosum infection human_phenotype HP:0032163 Unusual molluscum contagiosum HP:0032163 Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. PMID:24740746 The concentration of folic acid in the blood circulation is above the upper limit of normal. 2018-12-09T14:04:29Z Increased blood folate concentration Increased circulating vitamin B9 concentration human_phenotype HP:0032164 Increased circulating folate concentration HP:0032164 Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. 2018-12-09T14:14:16Z human_phenotype HP:0032165 Placental mesenchymal dysplasia is an unusual abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. Placental mesenchymal dysplasia HP:0032165 Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells. PMID:17227114 PMID:25171710 PMID:28515588 2018-12-09T14:21:56Z Unusual GI infection human_phenotype HP:0032166 Unusual gastrointestinal infection HP:0032166 Unusual GI infection An infection of the small intestine (enteritis) by clostridium difficile. 2018-12-09T14:22:48Z C. difficile enteritis human_phenotype HP:0032167 Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection. Clostridium difficile enteritis HP:0032167 C. difficile enteritis An infection of the colon (colitis) by clostridium difficile. 2018-12-09T14:28:28Z human_phenotype HP:0032168 Clostridium difficile colitis HP:0032168 An infection of the colon (colitis) by clostridium difficile. PMID:22298971 A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. 2018-12-16T15:11:20Z Unusual course of infection human_phenotype HP:0032169 Severe infection HP:0032169 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. 2018-12-16T15:12:18Z Disseminated herpes zoster Severe herpes zoster Severe zoster infection human_phenotype HP:0032170 Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the pediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening. Severe varicella zoster infection HP:0032170 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. PMID:21748081 PMID:23248376 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case. 2018-12-16T15:23:31Z human_phenotype HP:0032171 Bladder pain HP:0032171 HP:0033661 2019-01-06T10:55:10Z human_phenotype HP:0032172 obsolete Air crescent sign true HP:0032172 This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. 2019-01-06T10:59:57Z human_phenotype HP:0032173 Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax. Continuous diaphragm sign HP:0032173 This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign. PMID:26312141 The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). 2019-01-06T11:14:22Z human_phenotype HP:0032174 This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease. Tree-in-bud pattern HP:0032174 The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376). PMID:18195376 This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. 2019-01-06T11:17:24Z human_phenotype HP:0032175 See Fig 66 of PMID:18195376. Signet ring sign HP:0032175 This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging. PMID:18195376 An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. 2019-01-06T11:20:30Z Apical cap Apical pleural thickening human_phenotype HP:0032176 The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans. Apical pulmonary opacity HP:0032176 An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space. PMID:18195376 PMID:1994409 Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). 2019-01-06T11:25:27Z human_phenotype HP:0032177 In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity). Parenchymal consolidation HP:0032177 Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). PMID:18195376 A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). 2019-01-06T13:46:09Z Flaky paint skin appearance human_phenotype HP:0032178 Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor. Flaky paint dermatosis HP:0032178 A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001). PMID:1764353 PMID:24285001 Any deviation from the normal concentration of globulins in the blood circulation. 2019-01-06T14:01:21Z Abnormal circulating globulin level human_phenotype HP:0032179 Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode. Abnormal circulating globulin concentration HP:0032179 An abnormal level of an analyte measured in the blood. 2019-01-12T13:45:59Z human_phenotype HP:0032180 Abnormal circulating metabolite concentration HP:0032180 An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. 2019-01-12T14:05:06Z human_phenotype HP:0032181 Anomalous hepatic venous drainage into the left atrium HP:0032181 An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium. PMID:12556263 PMID:16122505 PMID:20552624 An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. 2019-01-12T14:32:15Z Abnormal proportion of CD4+CD29+ cells Abnormal proportion of memory T cells human_phenotype HP:0032182 Abnormal memory T cell proportion HP:0032182 An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response. PMID:8450264 An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. 2019-01-12T14:35:47Z Decreased proportion of CD4+CD29+ cells Decreased proportion of memory T cells human_phenotype HP:0032183 Decreased memory T cell proportion HP:0032183 An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood. PMID:8450264 An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. 2019-01-12T14:37:08Z Increased proportion of CD4+CD29+ cells Increased proportion of memory T cells human_phenotype HP:0032184 Increased memory T cell proportion HP:0032184 Increased susceptibility to Molluscum contagiosum infections as manifested by a severe, invasive, or disseminated infection with Molluscum contagiosum over the body. 2019-01-12T14:58:01Z Disseminated molluscum human_phenotype HP:0032185 Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years. Disseminated molluscum contagiosum HP:0032185 A benign or malignant neoplasm that affects the anal canal or anal margin. 2019-01-15T10:13:37Z human_phenotype HP:0032186 Anal neoplasm HP:0032186 A benign or malignant neoplasm that affects the anal canal or anal margin. NCIT:C2877 Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. 2019-01-15T10:14:28Z human_phenotype HP:0032187 Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion. Anal intraepithelial neoplasia HP:0032187 Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer. NCIT:C4595 PMID:28255426 An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. 2019-01-15T11:19:21Z human_phenotype HP:0032188 Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia. Cellular hypersensitivity to mitomycin C HP:0032188 An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. PMID:9650445 https://orcid.org/0000-0001-5208-3432 An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. 2019-01-15T11:20:48Z human_phenotype HP:0032189 Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia. Cellular hypersensitivity to diepoxybutane HP:0032189 An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. PMID:14679584 https://orcid.org/0000-0001-5208-3432 Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. 2019-01-15T11:29:05Z human_phenotype HP:0032190 The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage. Abnormal meniscus morphology HP:0032190 Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement. PMID:26488288 A tear in the cartilaginous pad (meniscus) of the knee. 2019-01-15T11:31:04Z human_phenotype HP:0032191 Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention. Torn meniscus HP:0032191 A tear in the cartilaginous pad (meniscus) of the knee. PMID:21126396 PMID:26488288 Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. 2019-01-19T12:26:05Z human_phenotype HP:0032192 The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM. Hydatidiform mole HP:0032192 Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. PMID:23232697 PMID:26421650 An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. 2019-01-19T12:51:21Z human_phenotype HP:0032193 Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity. Decreased low-density lipoprotein particle size HP:0032193 An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation. PMID:10417486 PMID:9973300 https://orcid.org/0000-0001-5356-4174 Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart. 2019-01-19T13:30:36Z human_phenotype HP:0032195 Abnormal S wave HP:0032195 Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. 2019-01-19T13:32:59Z human_phenotype HP:0032196 Prominent S wave in lead I HP:0032196 Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram. PMID:27012403 Abnormal depth of the S wave in lead V5 of the electrocardiogram. 2019-01-19T13:39:21Z human_phenotype HP:0032197 The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5. Deep S wave in lead V5 HP:0032197 Abnormal depth of the S wave in lead V5 of the electrocardiogram. PMID:29279530 Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. 2019-01-19T15:32:55Z Decreased INR Decreased PT Decreased international normalised ratio Decreased international normalized ratio human_phenotype HP:0032198 Decreased prothrombin time HP:0032198 Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. PMID:21470390 Decreased INR Decreased PT Decreased international normalised ratio Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. 2019-01-19T15:34:30Z Abnormal PT human_phenotype HP:0032199 Abnormal prothrombin time HP:0032199 Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. PMID:29939529 Abnormal PT The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. 2019-01-20T11:05:59Z human_phenotype HP:0032200 Perivascular fibrosis HP:0032200 The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern. PMID:21502911 PMID:30363608 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. 2019-01-20T11:23:57Z human_phenotype HP:0032201 Rotator cuff tears can be caused by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder. Rotator cuff tear HP:0032201 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus. PMID:24932450 PMID:29229593 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. 2019-01-20T13:31:43Z human_phenotype HP:0032202 Vulvar intraepithelial neoplasia HP:0032202 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC. NCIT:C4756 PMID:30187167 Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). 2019-01-20T14:41:25Z Lymphonodular hyperplasia of the colon human_phenotype HP:0032203 The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia. Lymphoid nodular hyperplasia HP:0032203 Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236). PMID:10400105 PMID:17368236 Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. 2019-01-20T15:00:27Z Chronic active Epstein-Barr virus infection Persistent Epstein-Barr virus infection Recurrent Epstein-Barr virus infection human_phenotype HP:0032204 The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both. Chronic active EBV infection HP:0032204 The concentration of galectin-3 in the blood circulation is above the upper limit of normal. 2019-01-20T15:21:52Z Elevated circulating galectin-3 concentration Elevated galectin-3 concentration Elevated galectin-3 level Elevated galectin-3 level in blood Increased galectin-3 concentration Increased galectin-3 level Increased galectin-3 level in blood human_phenotype HP:0032205 Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodeling. Elevated circulating galectin-3 concentration HP:0032205 HP:0025454 2019-01-20T15:49:06Z human_phenotype HP:0032207 obsolete Abnormal cerebrospinal fluid metabolite concentration true HP:0032207 An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. 2019-01-20T16:17:52Z Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine Increased urine NTx level human_phenotype HP:0032208 Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers. Increased urinary type 1 collagen N-terminal telopeptide level HP:0032208 An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. PMID:30572827 Increased urine NTx level A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. 2019-01-20T20:34:42Z Abnormal circulating free T3 level Abnormal circulating free triiodotyronine concentration human_phenotype HP:0032209 Abnormal circulating free T3 concentration HP:0032209 A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. 2019-01-20T20:42:18Z Decreased circulating free triiodothyronine human_phenotype HP:0032210 Decreased circulating free T3 HP:0032210 An increased number of epithelial cells per high-power field in urinanalysis. 2019-01-20T21:01:58Z human_phenotype HP:0032211 There are three types of epithelial cells that are encountered upon urinalysis, squamous, renal tubular, and transitional. Increased urinary epithelial cell count HP:0032211 An increased number of squamous epithelial cells per high-power field in urinanalysis. 2019-01-20T21:04:12Z human_phenotype HP:0032212 Squamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination, Increased urinary squamous epithelial cell count HP:0032212 An increased number of squamous epithelial cells per high-power field in urinanalysis. PMID:26782662 An increased number of renal tubular epithelial cells per high-power field in urinanalysis. 2019-01-20T21:05:55Z human_phenotype HP:0032213 Increased urinary renal tubular epithelial cell count HP:0032213 An increased number of transitional epithelial cells per high-power field in urinanalysis. 2019-01-20T21:07:33Z human_phenotype HP:0032214 Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra. Increased urinary transitional epithelial cell count HP:0032214 Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. 2019-01-20T21:19:28Z human_phenotype HP:0032215 Disseminated cutaneous warts HP:0032215 Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. PMID:29730845 Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. 2019-01-21T00:37:22Z human_phenotype HP:0032216 Lymphocytic infiltration of the colorectal mucosa HP:0032216 Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. PMID:9824342 A skin nodule that is unusually hard (indurated). 2019-01-21T00:45:22Z human_phenotype HP:0032217 Indurated nodule HP:0032217 A skin nodule that is unusually hard (indurated). PMID:16252032 PMID:23006954 Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2019-01-21T00:48:24Z HP:0005407 HP:0005480 HP:0008165 Decreased helper T cell proportion Decreased proportion circulating T-helper cells Decreased proportion of CD4+ T cells Decreased proportion of CD4+ cells Decreased proportion of CD4-positive T cells Decreased proportion of CD4-positive helper T cells Decreased proportion of CD4-positive, alpha-beta T cells Reduced helper T cell proportion Reduced proportion of CD4-positive cells human_phenotype HP:0032218 Decreased total CD4+ T cell proportion HP:0032218 Abnormal increase of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2019-01-21T00:48:54Z HP:0500264 Elevated helper T cell proportion Elevated proportion of CD4-positive T cells Increased helper T cell proportion Increased proportion of CD4+ T cells Increased proportion of CD4-positive T cells Increased proportion of CD4-positive, alpha-beta T cells human_phenotype HP:0032219 T helper cells (Th cells), also known as CD4+ cells or CD4-positive cells, are a type of T cell that play an important role in the adaptive immune system. Increased total CD4+ T cell proportion HP:0032219 Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. 2019-01-21T01:12:37Z human_phenotype HP:0032220 Interface hepatitis HP:0032220 The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. 2019-01-21T01:20:50Z human_phenotype HP:0032221 Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes. Periportal emperipolesis HP:0032221 The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area. PMID:25654060 PMID:9420892 The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. 2019-01-21T01:40:27Z human_phenotype Serrated polyposis HP:0032222 Serrated intestinal polyps HP:0032222 The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. NCIT:C96470 PMID:27540339 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. 2019-01-24T11:33:51Z human_phenotype HP:0032223 At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion. Blood group HP:0032223 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems. PMID:26085552 The ABO system consists of A and B antigens and antibodies against these antigens. 2019-01-24T11:40:47Z human_phenotype HP:0032224 The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. ABO blood group HP:0032224 The ABO system consists of A and B antigens and antibodies against these antigens. PMID:15373665 PMID:26085552 Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. 2019-01-26T14:14:55Z human_phenotype HP:0032225 Multiple Perifollicular fibroma (PFF) lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp. Perifollicular fibroma HP:0032225 Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle. PMID:21747629 Any structural anomaly of the sebaceous glands. 2019-01-26T14:26:26Z human_phenotype HP:0032226 Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters. Abnormal sebaceous gland morphology HP:0032226 Any structural anomaly of the sebaceous glands. PMID:17975220 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. 2019-01-26T14:30:41Z human_phenotype HP:0032227 Sebaceous hyperplasia HP:0032227 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. PMID:24759166 A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. 2019-01-26T14:38:09Z human_phenotype HP:0032228 In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern. Trichodiscoma HP:0032228 A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. NCIT:C43333 PMID:10522666 The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. 2019-01-26T14:41:19Z p-ANCA positivity human_phenotype HP:0032229 Perinuclear antineutrophil antibody positivity HP:0032229 The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. PMID:24854381 PMID:27481040 PMID:28661185 https://orcid.org/0000-0002-7440-8864 p-ANCA positivity The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. 2019-01-26T14:43:56Z Anti-neutrophil cytoplasmic antibody positivity C-ANCA antibodies Cytoplasmic antineutrophil cytoplasmic antibodies human_phenotype HP:0032230 Cytoplasmic antineutrophil antibody positivity HP:0032230 The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. PMID:14646155 PMID:24854381 PMID:27481040 PMID:28661185 https://orcid.org/0000-0002-7440-8864 A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. 2019-01-26T14:52:08Z human_phenotype HP:0032231 Hypochromia HP:0032231 The concentration of CK-MB (= creatine kinase MB) in the blood circulation is above the upper limit of normal. 2019-01-26T17:05:00Z Increased circulating CK MB isoform human_phenotype HP:0032232 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. Elevated circulating CK-MB concentration HP:0032232 Increased circulating CK MB isoform https://orcid.org/0000-0001-7941-2961 The concentration of creatine kinase BB isoform in the blood circulation is above the upper limit of normal. 2019-01-26T17:11:51Z Elevated circulating creatine kinase BB isoform concentration Elevated creatine kinase B-type concentration Elevated creatine kinase B-type level Elevated creatine kinase B-type level in blood Increased circulating CK BB isoform Increased creatine kinase B-type concentration Increased creatine kinase B-type level Increased creatine kinase B-type level in blood human_phenotype HP:0032233 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. Elevated circulating creatine kinase BB isoform concentration HP:0032233 Increased circulating CK BB isoform https://orcid.org/0000-0001-7941-2961 The concentration of creatine kinase MM isoform in the blood circulation is above the upper limit of normal. 2019-01-26T17:12:03Z Elevated circulating creatine kinase MM isoform concentration Elevated creatine kinase M-type concentration Elevated creatine kinase M-type level Elevated creatine kinase M-type level in blood Increased circulating CK MM isoform Increased creatine kinase M-type concentration Increased creatine kinase M-type level Increased creatine kinase M-type level in blood human_phenotype HP:0032234 All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury. Elevated circulating creatine kinase MM isoform concentration HP:0032234 Increased circulating CK MM isoform https://orcid.org/0000-0001-7941-2961 The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. 2019-01-26T17:16:04Z human_phenotype HP:0032235 Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands. Anti-La/SS-B antibody positivity HP:0032235 The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. PMID:15804706 PMID:27431345 https://orcid.org/0000-0002-4095-8489 An abnormally increased number of immature neutrophils in the peripheral blood circulation. 2019-01-26T17:21:30Z human_phenotype HP:0032236 Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation. Increased circulating immature neutrophil count HP:0032236 An abnormally increased number of immature neutrophils in the peripheral blood circulation. PMID:25887201 The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1. 2019-01-26T17:25:19Z human_phenotype HP:0032237 Increased circulating myelocyte count HP:0032237 The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1. PMID:25887201 The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1. 2019-01-26T17:27:06Z human_phenotype HP:0032238 Increased circulating metamyelocyte count HP:0032238 The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1. PMID:25887201 The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2. 2019-01-26T17:28:36Z Increased circulating band form neutrophils Left shift human_phenotype HP:0032239 Increased circulating band cell count HP:0032239 The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2. PMID:25887201 The concentration of E-selectin in the blood circulation is above the upper limit of normal. 2019-01-26T19:35:17Z Elevated E-selectin concentration Elevated E-selectin level Elevated E-selectin level in blood Elevated circulating E-selectin concentration Increased E-selectin concentration Increased E-selectin level Increased E-selectin level in blood human_phenotype HP:0032240 Elevated circulating E-selectin concentration HP:0032240 A tumor (abnormal growth of tissue) of the uterine cervix. 2019-01-26T19:47:41Z human_phenotype HP:0032241 Cervical neoplasm HP:0032241 A tumor (abnormal growth of tissue) of the uterine cervix. NCIT:C2940 A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. 2019-01-26T19:49:11Z human_phenotype HP:0032242 Cervical intraepithelial neoplasia HP:0032242 A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer. PMID:28453530 Any deviation from the normal concentration of a metabolite in a tissue. 2019-01-27T11:56:39Z human_phenotype HP:0032243 Abnormal tissue metabolite concentration HP:0032243 A reduction in the concentration of thromboxane B2 in the blood circulation. 2019-01-27T12:14:04Z human_phenotype HP:0032244 Decreased serum thromboxane B2 HP:0032244 A reduction in the concentration of thromboxane B2 in the blood circulation. PMID:6101498 An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. 2019-01-27T12:48:52Z human_phenotype HP:0032245 Abnormal metabolism HP:0032245 Persistent or recurrent detection of cytomegalovirus (CMV) in the blood that occurs in the context of unusual susceptibility to infection. 2019-01-27T13:32:28Z Chronic CMV viremia Persistent CMV viraemia Recurrent CMV viremia human_phenotype HP:0032247 Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death. Persistent CMV viremia HP:0032247 Persistent or recurrent detection of cytomegalovirus (CMV) in the blood that occurs in the context of unusual susceptibility to infection. PMID:28130404 Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host. 2019-01-27T13:36:30Z human_phenotype HP:0032248 Persistent viremia HP:0032248 Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. 2019-01-27T13:37:54Z Valley fever human_phenotype HP:0032249 Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides. Coccidioidomycosis HP:0032249 Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. PMID:23843703 An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. 2019-01-27T16:38:23Z human_phenotype HP:0032250 Acinetobacter infection HP:0032250 An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay. PMID:22546906 2019-01-27T16:44:33Z human_phenotype HP:0032251 Abnormal immune system morphology HP:0032251 A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. 2019-01-27T16:44:42Z human_phenotype HP:0032252 Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodeling occurs. Granuloma HP:0032252 A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. PMID:10908370 PMID:11168676 PMID:937513 A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. 2019-01-27T16:50:48Z human_phenotype HP:0032253 Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin. Eosinophilic granuloma HP:0032253 A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris. PMID:21938183 The concentration of copper cation in the blood circulation is above the upper limit of normal. This term refers to the total copper concentration. 2019-01-27T17:13:31Z Elevated copper cation concentration Elevated copper cation level Elevated copper cation level in blood Elevated serum copper Hypercupremia Increased circulating copper concentration Increased copper cation concentration Increased copper cation level Increased copper cation level in blood human_phenotype HP:0032254 Elevated circulating copper concentration HP:0032254 An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system. 2019-01-27T18:09:57Z human_phenotype HP:0032255 Opportunistic fungal infection HP:0032255 An increased susceptibility to Histoplasma capsulatum infections as manifested by a recurrent or severe/invasive infection with Histoplasma capsulatum, or occurring in an unusual anatomical location. 2019-01-27T18:10:09Z Histoplasmosis Unusual histoplasmosis Unusual progressive disseminated histoplasmosis Unusual susceptibility to Histoplasma capsulatum human_phenotype HP:0032256 Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course. Unusual Histoplasma capsulatum infection HP:0032256 Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. 2019-01-27T18:15:01Z Disseminated histoplasmosis Invasive histoplasmosis Progressive disseminated histoplasmosis Severe histoplasmosis human_phenotype HP:0032257 Severe Histoplasma capsulatum infection HP:0032257 Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS. PMID:30619685 Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. 2019-01-27T18:17:55Z human_phenotype HP:0032258 Pulmonary histoplasmosis HP:0032258 Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum. PMID:21810958 The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. 2019-01-27T18:30:04Z human_phenotype HP:0032259 Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton. Chronic tinea infection HP:0032259 The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. PMID:25403034 An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system. 2019-01-27T18:37:49Z human_phenotype HP:0032260 Opportunistic bacterial infection HP:0032260 An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. 2019-01-27T18:38:45Z human_phenotype HP:0032261 Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM). Nontuberculous mycobacterial pulmonary infection HP:0032261 An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. PMID:24624285 PMID:7472715 A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. 2019-01-27T19:04:54Z Pulmonary TB human_phenotype HP:0032262 Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance. Pulmonary tuberculosis HP:0032262 A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. PMID:30345099 Pulmonary TB Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. 2019-01-27T20:07:59Z Increased BP human_phenotype HP:0032263 Increased blood pressure HP:0032263 Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. PMID:9137951 Increased BP The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. 2019-01-27T20:12:00Z Presence of anti-N-methyl-D-aspartate Receptor antibody in blood Presence of anti-NMDAR antibody in blood human_phenotype HP:0032264 Anti-NMDA receptor antibody positivity HP:0032264 The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. PMID:24729779 The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues. 2019-01-27T20:13:27Z Cerebrospinal fluid autoimmune antibody positivity human_phenotype HP:0032265 CSF autoimmune antibody positivity HP:0032265 The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. 2019-01-27T20:14:16Z Presence of NMDAR antibody in CSF Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF Presence of anti-NMDAR antibody in cerebrospinal fluid human_phenotype HP:0032266 CSF anti-NMDA receptor antibody positivity HP:0032266 The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor. PMID:29651625 This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. 2019-01-27T20:21:18Z human_phenotype HP:0032267 The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months. See figure 5 in PMID:29089832. Empty delta sign HP:0032267 This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases. PMID:19881070 PMID:29089832 This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. 2019-01-27T20:24:27Z human_phenotype HP:0032268 This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata. Dural tail sign HP:0032268 This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor. PMID:19881070 The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles. 2019-01-27T20:27:13Z human_phenotype HP:0032269 This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix. Lemon sign HP:0032269 The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles. PMID:12832584 PMID:29089832 https://orcid.org/0000-0001-8612-1062 A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. 2019-01-27T20:29:14Z human_phenotype HP:0032270 Optic nerve tram-track sign HP:0032270 A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common. PMID:19881070 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. 2019-01-27T20:39:11Z Extrapulmonary TB human_phenotype HP:0032271 Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression. Extrapulmonary tuberculosis HP:0032271 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. PMID:16300038 PMID:25861336 Extrapulmonary TB HP:0034649 2019-01-27T21:01:43Z human_phenotype HP:0032272 obsolete Elevated urinary N-acetylaspartic acid level true HP:0032272 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. 2019-01-27T21:06:29Z Increased circulating N-acetyl aspartate level Increased circulating N-acetyl aspartic acid level Increased circulating N-acetyl-L-aspartic acid level Increased circulating N-acetylaspartate level Increased circulating NAA level human_phenotype HP:0032273 Increased circulating N-acetylaspartic acid concentration HP:0032273 Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal. PMID:8412017 An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). 2019-01-27T21:07:45Z Increased N-acetyl aspartate levels in CSF Increased N-acetyl aspartic acid levels in CSF Increased N-acetyl-L-aspartic acid levels in CSF Increased N-acetylaspartate levels in CSF Increased NAA levels in CSF human_phenotype HP:0032274 Increased CSF N-acetylaspartic acid concentration HP:0032274 An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). PMID:8412017 Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. 2019-01-27T21:15:51Z human_phenotype HP:0032275 Recurrent shingles HP:0032275 Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. PMID:24113666 Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. 2019-01-27T21:38:03Z human_phenotype HP:0032276 This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step. Prominent subcalcaneal fat pad HP:0032276 Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. PMID:26769062 2019-01-27T21:47:25Z human_phenotype HP:0032277 An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. Lozenge-shaped umbilicus HP:0032277 An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus. ISBN-13:978-0195300451 The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2019-01-27T21:55:32Z human_phenotype HP:0032278 2-hydroxyglutaric aciduria can cause causes progressive cerebral damage. 2-hydroxyglutarate aciduria HP:0032278 Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). 2019-01-27T23:07:10Z human_phenotype HP:0032281 The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one. Abnormal base excess HP:0032281 Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C). PMID:30067929 An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis. 2019-01-27T23:19:54Z human_phenotype HP:0032282 Contact dermatitis HP:0032282 Disseminated infection with non-tuberculous mycobacteria (NTM), involving multiple organ systems that occurs in the context of immune deficiency. 2019-01-27T23:26:04Z Disseminated NTM infection Disseminated non-tuberculous mycobacteriosis Disseminated nontuberculous mycobacterial infection Severe non-tuberculosis mycobacteria infection human_phenotype HP:0032283 Disseminated non-tuberculous mycobacterial infection HP:0032283 Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). 2019-02-10T13:52:59Z human_phenotype HP:0032284 Ultra-low vision with retained motion projection HP:0032284 Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). https://orcid.org/0000-0003-0986-4123 Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. 2019-02-10T13:53:42Z human_phenotype HP:0032285 Ultra-low vision with retained light projection HP:0032285 Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus. https://orcid.org/0000-0003-0986-4123 Ultra-low vision but with retained ability to perceive the difference between light and dark. 2019-02-10T13:54:32Z human_phenotype HP:0032286 Ultra-low vision with retained light perception HP:0032286 Ultra-low vision but with retained ability to perceive the difference between light and dark. https://orcid.org/0000-0003-0986-4123 Ultra-low vision with complete lack of light and form perception. 2019-02-10T13:55:07Z human_phenotype HP:0032287 Ultra-low vision with no light perception HP:0032287 Ultra-low vision with complete lack of light and form perception. https://orcid.org/0000-0003-0986-4123 An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. 2019-02-12T22:19:07Z Polyclonal elevation of circulating IgG level human_phenotype HP:0032288 Polyclonal elevation of circulating IgG concentration HP:0032288 An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains. PMID:15663032 An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-12T22:23:04Z Oligoclonal elevation of circulating IgG level human_phenotype HP:0032289 Oligoclonal elevation of circulating IgG concentration HP:0032289 An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-12T22:37:16Z Monoclonal elevation of circulating IgG level human_phenotype HP:0032290 Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions. Monoclonal elevation of circulating IgG concentration HP:0032290 A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain. 2019-02-12T22:39:49Z Monoclonal elevation of circulating intact IgG level human_phenotype HP:0032291 Monoclonal elevation of circulating intact IgG concentration HP:0032291 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. 2019-02-12T22:41:08Z Monoclonal elevation of circulating IgG light chain level human_phenotype HP:0032292 Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda. Monoclonal elevation of circulating IgG light chain concentration HP:0032292 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain. PMID:10926917 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain. 2019-02-12T22:42:06Z Monoclonal elevation of circulating IgG heavy chain level human_phenotype HP:0032293 Monoclonal elevation of circulating IgG heavy chain concentration HP:0032293 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain. 2019-02-12T22:42:44Z human_phenotype HP:0032294 Monoclonal elevation of IgG kappa chain HP:0032294 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain. 2019-02-12T22:43:13Z human_phenotype HP:0032295 Monoclonal elevation of IgG lambda chain HP:0032295 An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. 2019-02-12T22:46:56Z human_phenotype HP:0032296 The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions, Increased circulating IgG subclass concentration HP:0032296 An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses. PMID:25368619 An abnormally increased concentration of the IgG3 subtype in the blood circulation. 2019-02-12T22:50:02Z human_phenotype HP:0032297 IgG3 antibodies are particularly effective in the induction of effector functions. Increased circulating IgG3 concentration HP:0032297 An abnormally increased concentration of the IgG3 subtype in the blood circulation. PMID:25368619 https://orcid.org/0000-0002-8169-9049 An abnormally increased concentration of the IgG1 subtype in the blood circulation. 2019-02-12T22:52:27Z human_phenotype HP:0032298 Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections. Increased circulating IgG1 concentration HP:0032298 An abnormally increased concentration of the IgG1 subtype in the blood circulation. PMID:25368619 https://orcid.org/0000-0002-8169-9049 An abnormally increased concentration of the IgG2 subtype in the blood circulation. 2019-02-12T22:55:31Z human_phenotype HP:0032299 Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2. Increased circulating IgG2 concentration HP:0032299 An abnormally increased concentration of the IgG2 subtype in the blood circulation. PMID:25368619 https://orcid.org/0000-0002-8169-9049 An abnormally increased concentration of the IgG4 subtype in the blood circulation. 2019-02-12T22:56:05Z human_phenotype HP:0032300 Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass. Increased circulating IgG4 concentration HP:0032300 An abnormally increased concentration of the IgG4 subtype in the blood circulation. PMID:25368619 https://orcid.org/0000-0002-8169-9049 Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. 2019-02-12T23:10:40Z human_phenotype HP:0032301 Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV). Genital warts HP:0032301 Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress. PMID:28722914 The presence of free monoclonal kappa immunoglobulin light chains in the urine. 2019-02-12T23:22:01Z human_phenotype HP:0032302 Kappa Bence Jones proteinuria HP:0032302 The presence of free monoclonal lambda immunoglobulin light chains in the urine. 2019-02-12T23:23:21Z human_phenotype HP:0032303 Lambda Bence Jones proteinuria HP:0032303 Any deviation from the normal concentration of mannose-binding protein in the blood circulation. 2019-02-12T23:27:46Z human_phenotype HP:0032304 Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Abnormal circulating mannose-binding protein concentration HP:0032304 The concentration of mannose-binding protein in the blood circulation is below the lower limit of normal. 2019-02-12T23:29:35Z Decreased mannose-binding protein level human_phenotype HP:0032305 Decreased circulating mannose-binding protein concentration HP:0032305 The concentration of mannose-binding protein in the blood circulation is above the upper limit of normal. 2019-02-12T23:29:43Z Increased mannose-binding protein level human_phenotype HP:0032306 Elevated circulating mannose-binding protein concentration HP:0032306 An elevated concentration of procalcitonin in the blood circulation. 2019-02-14T10:46:33Z Increased circulating procalcitonin level human_phenotype HP:0032308 Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection. Increased circulating procalcitonin concentration HP:0032308 An elevated concentration of procalcitonin in the blood circulation. PMID:28794881 PMID:2933297 https://orcid.org/0000-0002-8169-9049 Abnormal increase or decrease of absolute number of granulocytes in the blood, per microliter, compared to a reference range for a given sex and age-group. 2019-02-14T10:54:57Z human_phenotype HP:0032309 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. Abnormal granulocyte count HP:0032309 An increased count of granulocytes in the peripheral blood circulation. 2019-02-14T10:57:40Z Granulocytosis human_phenotype HP:0032310 Increased total granulocyte count HP:0032310 The concentration of globulins in the blood circulation is above the upper limit of normal. 2019-02-14T11:01:24Z Hyperglobulinemia human_phenotype HP:0032311 Elevated circulating globulin concentration HP:0032311 The concentration of globulins in the blood circulation is below the lower limit of normal. 2019-02-14T11:02:26Z human_phenotype HP:0032312 Decreased circulating globulin concentration HP:0032312 Excessive, increased hair growth located in the region of the forehead and temple. 2019-02-14T11:05:15Z human_phenotype HP:0032313 Frontotemporal hypertrichosis HP:0032313 An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple. 2019-02-14T11:26:26Z human_phenotype HP:0032314 Abnormal areolar morphology HP:0032314 The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. 2019-02-14T11:27:08Z human_phenotype HP:0032315 Areolar fullness HP:0032315 Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins. 2019-02-14T11:40:50Z human_phenotype HP:0032316 This subontology is intended to help record summary information about family members if only a limited amount of information is available or required. Family history HP:0032316 A close blood relative had cancer. 2019-02-14T11:43:34Z human_phenotype HP:0032317 Family history of cancer HP:0032317 A close blood relative had heart disease. 2019-02-14T11:45:48Z human_phenotype HP:0032318 Family history of heart disease HP:0032318 Health status of a family member with respect to the disease being investigated in a proband. 2019-02-14T11:46:18Z human_phenotype HP:0032319 Health status HP:0032319 This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband). 2019-02-14T11:47:51Z human_phenotype HP:0032320 Affected HP:0032320 This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. 2019-02-14T11:48:40Z human_phenotype HP:0032321 Unaffected HP:0032321 No history of any serious disease, including the disease being investigated in the proband. 2019-02-14T11:49:52Z human_phenotype HP:0032322 Healthy HP:0032322 Episodic fever that recurs at regular intervals. 2019-02-14T11:54:22Z human_phenotype HP:0032323 Periodic fever HP:0032323 Episodic fever that recurs at irregular intervals. 2019-02-14T11:54:53Z human_phenotype HP:0032324 Non-periodic recurrent fever HP:0032324 A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. 2019-02-14T11:57:13Z human_phenotype HP:0032325 Lacunar stroke HP:0032325 A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. PMID:15834013 Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection. 2019-02-14T12:04:53Z MRSA infection human_phenotype HP:0032326 Methicillin-resistant Staphylococcus aureus infection HP:0032326 Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection. PMID:16186732 MRSA infection Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. 2019-02-16T14:47:30Z human_phenotype HP:0032327 Interhemispheric cyst HP:0032327 Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. PMID:27195030 Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. 2019-02-18T11:34:44Z human_phenotype HP:0032328 See Figure 1 of PMID:19534789. Temporomandibular joint adhesion HP:0032328 Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ. PMID:12139272 PMID:19534789 An abnormally elevated concentration of 11-deoxycortisol in the urine. 2019-02-18T13:41:41Z human_phenotype HP:0032329 Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. Increased urinary 11-deoxycortisol level HP:0032329 An abnormally elevated concentration of 11-deoxycortisol in the urine. PMID:10689646 https://orcid.org/0000-0001-9969-8610 An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. 2019-02-18T13:52:04Z human_phenotype HP:0032330 Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. Increased urinary 11-deoxycorticosterone level HP:0032330 An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. PMID:10689646 https://orcid.org/0000-0001-9969-8610 An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. 2019-02-18T13:59:35Z human_phenotype HP:0032331 Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency. Increased urinary 11-deoxytetrahydrocorticosterone level HP:0032331 An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine. PMID:10689646 https://orcid.org/0000-0001-9969-8610 An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase. 2019-02-18T14:07:45Z human_phenotype HP:0032332 Oligoclonal elevation of circulating IgM concentration HP:0032332 A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis. 2019-02-18T14:10:14Z human_phenotype HP:0032333 Polyclonal elevation of circulating IgA HP:0032333 An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-18T14:10:26Z human_phenotype HP:0032334 Oligoclonal elevation of circulating IgA HP:0032334 An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-18T14:10:39Z human_phenotype HP:0032335 Monoclonal elevation of circulating IgA HP:0032335 2019-02-18T14:13:53Z Increased circulating specific IgE antibody human_phenotype HP:0032336 Increased circulating specific IgE antibody concentration HP:0032336 An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-18T14:15:47Z Monoclonal elevation of circulating IgE human_phenotype HP:0032337 Monoclonal elevated circulating IgE concentration HP:0032337 An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins. 2019-02-18T14:16:26Z Oligoclonal elevation of circulating IgE human_phenotype HP:0032338 Oligoclonal elevated circulating IgE concentration HP:0032338 A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis. 2019-02-18T14:16:50Z human_phenotype HP:0032339 Polyclonal elevated circulating IgE concentration HP:0032339 HP:0030878 2019-02-21T12:38:21Z human_phenotype HP:0032340 obsolete Abnormal spirometry test true HP:0032340 An abnormal reduction in the amount of air a person can expel following maximal inspiration. 2019-02-21T12:48:52Z Decreased forced vital capacity Reduced FVC human_phenotype HP:0032341 The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III). Reduced forced vital capacity HP:0032341 An abnormal reduction in the amount of air a person can expel following maximal inspiration. PMID:22347750 PMID:24695507 Reduced FVC An abnormal reduction in the amount of air a person can forcefully expel in one second. 2019-02-21T12:54:07Z Reduced FEV1 human_phenotype HP:0032342 Reduced forced expiratory volume in one second HP:0032342 Reduced FEV1 Upturned concavity of toenails. 2019-02-21T13:14:43Z Ski-jump toenail Upturned toenail human_phenotype HP:0032344 See Figure 1 of PMID:25776851. Upslanting toenail HP:0032344 The concentration of carbohydrate antigen 19-9 (CA19-9) in the blood circulation is above the upper limit of normal. CA 19-9, also known as sialyl Lewis A, is a tetrasaccharide overexpressed on a wide range of cancerous cells. CA 19-9 is a tumor-associated carbohydrate antigen (TACAs) that is both a local (anchored on cell surface or tumor site) and shed (in systemic circulation) antigen. CA 19-9 is expressed at low levels in normal tissues but overexpressed in cancer cells. 2019-02-21T13:26:41Z HP:0034603 Elevated cancer Ag 19-9 level Elevated circulating cancer antigen 19-9 concentration Elevated circulating carbohydrate antigen 19-9 concentration Elevated circulating sialylated Lewis a antigen concentration human_phenotype HP:0032345 CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9). Elevated circulating CA19-9 concentration HP:0032345 The concentration of carbohydrate antigen 19-9 (CA19-9) in the blood circulation is above the upper limit of normal. CA 19-9, also known as sialyl Lewis A, is a tetrasaccharide overexpressed on a wide range of cancerous cells. CA 19-9 is a tumor-associated carbohydrate antigen (TACAs) that is both a local (anchored on cell surface or tumor site) and shed (in systemic circulation) antigen. CA 19-9 is expressed at low levels in normal tissues but overexpressed in cancer cells. PMID:39230966 Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. 2019-02-23T16:20:56Z human_phenotype HP:0032346 Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes. Cutaneous lichen amyloidosis HP:0032346 Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. PMID:28342017 PMID:29630157 A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. 2019-02-23T16:26:56Z Macular amyloidosis human_phenotype HP:0032347 Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive. Cutaneous macular amyloidosis HP:0032347 A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. PMID:26981113 A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. 2019-02-23T16:30:50Z human_phenotype HP:0032348 Cutaneous nodular amyloidosis HP:0032348 A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. PMID:28537855 A increased concentration of serine in the urine. 2019-02-23T16:34:18Z human_phenotype HP:0032349 Serinuria HP:0032349 A increased concentration of serine in the urine. https://orcid.org/0000-0002-8169-9049 A increased concentration of sulfocysteine in the urine. 2019-02-23T16:43:08Z human_phenotype HP:0032350 Sulfocysteinuria HP:0032350 A increased concentration of sulfocysteine in the urine. PMID:28980090 https://orcid.org/0000-0002-8169-9049 Increased level of phenylalanine in urine. 2019-02-23T16:46:17Z Increased level of phenylalanine in urine human_phenotype HP:0032351 Phenylalaninuria HP:0032351 Increased level of phenylalanine in urine. PMID:18566668 https://orcid.org/0000-0002-8169-9049 Level of methionine in urine above the upper limit of normal. 2019-02-23T16:48:53Z Methionine high in urine human_phenotype HP:0032352 Methioninuria HP:0032352 Level of methionine in urine above the upper limit of normal. https://orcid.org/0000-0002-8169-9049 Increased level of leucine in urine. 2019-02-23T16:51:08Z human_phenotype HP:0032353 Leucinuria HP:0032353 Increased level of leucine in urine. https://orcid.org/0000-0002-8169-9049 A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. 2019-02-23T16:59:55Z human_phenotype HP:0032355 Decreased peak expiratory flow HP:0032355 A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways. PMID:28005993 https://orcid.org/0000-0002-8169-9049 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. 2019-02-23T17:02:47Z Decreased pre bronchodilator forced vital capacity Decreased prebronchodilator forced vital capacity human_phenotype HP:0032356 Decreased pre-bronchodilator forced vital capacity HP:0032356 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication. PMID:24695507 https://orcid.org/0000-0002-8169-9049 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. 2019-02-23T17:05:42Z Decreased post bronchodilator forced vital capacity Decreased postbronchodilator forced vital capacity human_phenotype HP:0032357 Decreased post-bronchodilator forced vital capacity HP:0032357 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication. PMID:24695507 https://orcid.org/0000-0002-8169-9049 An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication. 2019-02-23T17:09:37Z Decreased post bronchodilator forced expiratory volume in one second Decreased postbronchodilator forced expiratory volume in one second human_phenotype HP:0032358 Decreased post-bronchodilator forced expiratory volume in one second HP:0032358 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. 2019-02-23T17:12:34Z Decreased FEF25-75% human_phenotype HP:0032359 Decreased forced expiratory flow 25-75% HP:0032359 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. PMID:24695507 https://orcid.org/0000-0002-8169-9049 Decreased FEF25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. 2019-02-23T17:15:58Z Decreased pre bronchodilator forced expiratory flow 25-75% Decreased pre-bronchodilator FEF25-75% Decreased prebronchodilator forced expiratory flow 25-75% human_phenotype HP:0032360 Decreased pre-bronchodilator forced expiratory flow 25-75% HP:0032360 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication. PMID:24695507 https://orcid.org/0000-0002-8169-9049 Decreased pre-bronchodilator FEF25-75% A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication. 2019-02-23T17:19:17Z Decreased post bronchodilator forced expiratory flow 25-75% Decreased post-bronchodilator FEF25-75% Decreased postbronchodilator forced expiratory flow 25-75% human_phenotype HP:0032361 Decreased post-bronchodilator forced expiratory flow 25-75% HP:0032361 Decreased post-bronchodilator FEF25-75% An abnormally elevated concentration of corticosterone in the blood. 2019-02-23T17:25:15Z human_phenotype HP:0032362 Increased circulating corticosterone level HP:0032362 An abnormally elevated concentration of corticosterone in the blood. https://orcid.org/0000-0002-8169-9049 An abnormally reduced concentration of corticosterone in the blood. 2019-02-23T17:31:39Z human_phenotype HP:0032363 Decreased circulating corticosterone level HP:0032363 HP:0500184 2019-02-23T12:35:26Z human_phenotype HP:0032364 obsolete Abnormal CSF amino acid level true HP:0032364 Applied to a sign or symptom that is worsened by ingestion of aspirin. 2019-02-23T17:36:45Z human_phenotype HP:0032365 Exacerbated by aspirin exposure HP:0032365 A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. 2019-02-23T17:43:12Z human_phenotype HP:0032366 The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface. Positive direct antiglobulin test HP:0032366 A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. PMID:28134589 Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful. 2019-02-23T18:15:25Z Abnormal growth hormone level Abnormal somatotropin level human_phenotype HP:0032367 Abnormal circulating growth hormone concentration HP:0032367 An abnormally low blood pH (usually defined as less than 7.35). 2019-02-23T18:37:21Z human_phenotype HP:0032368 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. Acidemia HP:0032368 An abnormally low blood pH (usually defined as less than 7.35). PMID:24381489 An abnormally high blood pH (usually defined as 7.41 or above). 2019-02-23T18:42:24Z human_phenotype HP:0032369 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. Alkalemia HP:0032369 An abnormally high blood pH (usually defined as 7.41 or above). PMID:24381489 ABO phenotype A, corresponding to the genotype AO or AA. 2019-02-23T18:59:31Z human_phenotype HP:0032370 Blood group A HP:0032370 An increased concentration of isoleucine in the urine. 2019-02-23T19:14:44Z Hyperisoleucinuria Isoleucine high in urine human_phenotype HP:0032371 Isoleucinuria HP:0032371 An increased concentration of isoleucine in the urine. https://orcid.org/0000-0002-8169-9049 An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications. 2019-02-24T13:28:31Z Elevated blast count Elevated circulating blasts Increased peripheral myeloblast count human_phenotype HP:0032372 Increased peripheral blast count HP:0032372 The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. 2019-02-24T13:37:17Z human_phenotype HP:0032373 FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs. Duffy blood group HP:0032373 The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-. PMID:19480920 Presence of the Duffy Fya antigen. 2019-02-24T13:40:29Z human_phenotype HP:0032374 Duffy Fya positivity HP:0032374 Presence of the Duffy Fya antigen. PMID:19480920 Presence of the Duffy Fyb antigen. 2019-02-24T13:42:55Z human_phenotype HP:0032375 Duffy Fyb positivity HP:0032375 Presence of the Duffy Fyb antigen. PMID:19480920 Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). 2019-02-24T13:47:12Z Anti-B2GPI positivity human_phenotype HP:0032376 Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1. Anti-beta 2 glycoprotein I antibody positivity HP:0032376 Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS). PMID:28105326 Anti-B2GPI positivity An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. 2019-02-24T14:04:48Z Increased urinary alpha-1-acid glycoprotein human_phenotype HP:0032377 Increased urinary orosomucoid HP:0032377 An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism. PMID:25711902 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. 2019-02-24T14:43:10Z human_phenotype HP:0032378 Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms. Immediate-type hypersensitivity drug reaction HP:0032378 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement. PMID:24286446 The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. 2019-02-24T14:52:07Z Sun allergy human_phenotype HP:0032379 Polymorphous light eruption HP:0032379 The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces. PMID:21442060 Sun allergy In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. 2019-02-24T14:55:08Z Acute vesiculation and crusting and scarring following sun exposure human_phenotype HP:0032381 Hydroa vacciniforme HP:0032381 In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation. PMID:21442060 Inheritance of both homologues of a chromosome pair from the same parent. 2019-02-24T14:58:52Z UPD human_phenotype HP:0032382 UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. Uniparental disomy HP:0032382 UPD UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD. PMID:29137034 A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. 2019-02-24T15:04:03Z human_phenotype HP:0032383 Uniparental heterodisomy HP:0032383 A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted. PMID:25547535 A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. 2019-02-24T15:05:18Z human_phenotype HP:0032384 Uniparental isodisomy HP:0032384 A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted. PMID:25547535 Any deviation from the normal concentration of transferrin in the blood circulation. 2019-02-24T15:33:47Z Abnormal circulating transferrin concentration Abnormal circulating transferrin level Abnormal serotransferrin level human_phenotype HP:0032385 Abnormal circulating transferrin concentration HP:0032385 The concentration of transferrin in the blood circulation is above the upper limit of normal. 2019-02-24T15:34:30Z Elevated circulating transferrin concentration Elevated serotransferrin concentration Elevated serotransferrin level Elevated serotransferrin level in blood Elevated transferrin level Increased serotransferrin concentration Increased serotransferrin level Increased serotransferrin level in blood human_phenotype HP:0032386 Elevated circulating transferrin concentration HP:0032386 The concentration of transferrin in the blood circulation is below the lower limit of normal. 2019-02-24T15:35:44Z Decreased circulating transferrin concentration Decreased serotransferrin concentration Decreased serotransferrin level Decreased serotransferrin level in blood Reduced serotransferrin concentration Reduced serotransferrin level Reduced serotransferrin level in blood Reduced transferrin level human_phenotype HP:0032387 Decreased circulating transferrin concentration HP:0032387 Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. 2019-02-24T15:59:43Z human_phenotype HP:0032388 Periventricular nodular heterotopia HP:0032388 Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. PMID:22427329 http://www.wikidata.org/entity/Q90573458 A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. 2019-02-24T16:00:54Z human_phenotype HP:0032389 Periventricular laminar heterotopia HP:0032389 A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral. PMID:22427329 PMID:22473091 http://www.wikidata.org/entity/Q90573458 Heterotopia that forms a continuous wavy line along the ventricular wall. 2019-02-24T16:02:11Z human_phenotype HP:0032390 Periventricular ribbonlike heterotopia HP:0032390 Heterotopia that forms a continuous wavy line along the ventricular wall. PMID:22315185 http://www.wikidata.org/entity/Q90573458 A form of heterotopia were the mislocalized gray matter is located deep within the white matter. 2019-02-24T16:03:34Z human_phenotype HP:0032391 Subcortical heterotopia HP:0032391 A form of heterotopia were the mislocalized gray matter is located deep within the white matter. http://www.wikidata.org/entity/Q90573458 Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. 2019-02-24T16:05:23Z human_phenotype HP:0032392 Nodular subcortical heterotopia in peritrigonal regions HP:0032392 Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei. PMID:23246003 PMID:29654772 http://www.wikidata.org/entity/Q90573458 Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. 2019-02-24T16:06:38Z human_phenotype HP:0032393 Diffuse ribbon-like subcortical heterotopia HP:0032393 Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex. PMID:24859200 http://www.wikidata.org/entity/Q90573458 Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. 2019-02-24T16:07:29Z human_phenotype HP:0032394 This pattern is assocatied with Chudlely-McCullough syndrome. Mesial parasagittal subcortical heterotopia HP:0032394 Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia. PMID:22578326 http://www.wikidata.org/entity/Q90573458 Large subcortical heterotopia of variable morphology with streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. 2019-02-24T16:08:36Z Giant heterotopia human_phenotype HP:0032395 Curvilinear subcortical heterotopia HP:0032395 Large subcortical heterotopia of variable morphology with streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia. PMID:22427329 http://www.wikidata.org/entity/Q90573458 Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. 2019-02-24T16:09:59Z human_phenotype HP:0032396 Transmantle columnar heterotopia HP:0032396 Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma. PMID:22427329 http://www.wikidata.org/entity/Q90573458 The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal. 2019-02-24T16:59:47Z Citrulline high in urine human_phenotype HP:0032397 Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle. Citrullinuria HP:0032397 The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal. PMID:29695388 https://orcid.org/0000-0002-8169-9049 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. 2019-02-24T17:04:20Z human_phenotype HP:0032398 Dysgyria translates as abnormal gyration and can therefore be applied to almost every type of MCD (malformations of cortical development). However, this term was introduced to describe cortical malformations that do not meet classic features of any of the abovementioned well-established MCD types. Dysgyria describes a cortex of variable thickness and an abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation (for example, obliquely oriented sulci directed radially towards the center of the cerebrum and narrow gyri separated by abnormally deep or shallow sulci). In the vast majority of cases, the term dysgyria describes an abnormal non-lissencephaly, non-polymicrogyria cortex within the spectrum of tubulinopathies. Dysgyria HP:0032398 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. PMID:26130693 PMID:26564436 PMID:32895508 http://www.wikidata.org/entity/Q90573458 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. 2019-02-24T17:05:51Z human_phenotype HP:0032399 Dysgyria with normal cortical thickness HP:0032399 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex. http://www.wikidata.org/entity/Q90573458 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. 2019-02-24T17:06:39Z human_phenotype HP:0032400 Dysgyria with thickened cortex HP:0032400 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria. http://www.wikidata.org/entity/Q90573458 A increased concentration of aspartic acid in the urine. 2019-02-24T17:47:28Z human_phenotype HP:0032401 Aspartic aciduria HP:0032401 A increased concentration of aspartic acid in the urine. PMID:21123949 https://orcid.org/0000-0002-8169-9049 An increased concentration of asparagine in the urine. 2019-02-24T17:59:29Z Increased level of asparagine in urine Increased urine asparagine level human_phenotype HP:0032403 Asparaginuria HP:0032403 An increased concentration of asparagine in the urine. https://orcid.org/0000-0002-8169-9049 An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. 2019-02-24T18:42:56Z human_phenotype HP:0032404 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified. Testicular mass HP:0032404 An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. PMID:9490992 An increased level of phosphoserine in the urine. 2019-02-24T20:26:16Z Increased level of phosphoserine in urine human_phenotype HP:0032405 O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group. Increased urinary phosphoserine level HP:0032405 An increased level of phosphoserine in the urine. PMID:7688003 https://orcid.org/0000-0002-8169-9049 A type of perisylvian polymicrogyria that largely affects one side of the brain. 2019-02-24T20:45:13Z human_phenotype HP:0032406 Unilateral perisylvian polymicrogyria HP:0032406 A type of perisylvian polymicrogyria that largely affects one side of the brain. PMID:20301504 http://www.wikidata.org/entity/Q90573458 A type of perisylvian polymicrogyria that affects both sides of the brain. 2019-02-24T20:47:02Z human_phenotype HP:0032407 Bilateral perisylvian polymicrogyria HP:0032407 A type of perisylvian polymicrogyria that affects both sides of the brain. PMID:20301504 http://www.wikidata.org/entity/Q90573458 A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. 2019-02-24T20:59:33Z Breast lump human_phenotype HP:0032408 The word mass is often used interchangeably with tumor, which derives from the Latin word tumor that originally meant any form of swelling. A small mass may be asymptomatic. Larger masses may cause pain if they press on a nerve or organ, or may lead to other manifestations depending on their location. In general, the finding of a mass will lead to a workup to determine the nature of the mass. The differential diagnosis of a breast mass includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma. Breast mass HP:0032408 A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. PMID:15887452 A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. 2019-02-24T21:08:16Z human_phenotype HP:0032409 Subcortical band heterotopia HP:0032409 A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. PMID:28413838 http://www.wikidata.org/entity/Q90573458 Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. 2019-02-24T21:11:36Z Bilateral generalised polymicrogyria Diffuse polymicrogyria human_phenotype HP:0032410 Bilateral generalized polymicrogyria HP:0032410 Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. PMID:20301504 http://www.wikidata.org/entity/Q90573458 Bilateral generalised polymicrogyria Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. 2019-02-24T21:13:52Z Occipital subcortical band heterotopia Subcortical band heterotopia posterior predominant human_phenotype HP:0032411 Posterior predominant subcortical band heterotopia HP:0032411 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. http://www.wikidata.org/entity/Q90573458 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. 2019-02-24T21:22:36Z Frontal subcortical band heterotopia Subcortical band heterotopia anterior predominant human_phenotype HP:0032412 Anterior predominant subcortical band heterotopia HP:0032412 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes. http://www.wikidata.org/entity/Q90573458 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. 2019-02-24T21:25:58Z Subcortical band heterotopia diffuse human_phenotype HP:0032413 Diffuse subcortical band heterotopia HP:0032413 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain. http://www.wikidata.org/entity/Q90573458 The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. 2019-02-24T21:34:45Z Hydroxylysine high in urine human_phenotype HP:0032414 Hydroxylysinuria HP:0032414 The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. https://orcid.org/0000-0002-8169-9049 Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. 2019-02-26T13:20:55Z human_phenotype HP:0032415 Parasagittal parieto-occipital polymicrogyria HP:0032415 Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex. PMID:20301504 PMID:21127420 http://www.wikidata.org/entity/Q90573458 A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin. 2019-02-26T13:58:30Z HP:0008014 HP:0030494 human_phenotype HP:0032416 A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in any part of the fundus. Retinal microaneurysm HP:0032416 A localized dilation or outpouching of microvasculature formed due to disruption of the vessel wall of a retinal capillary blood vessel. The lesions present as small red dots with distinct margins and are not larger than a blood vessel width at the disk margin. PMID:23371018 PMID:24425852 https://orcid.org/0000-0002-6601-2165 Circumferential fibrosis in the interstitium surrounding Bowman's capsule 2019-02-26T14:20:31Z PMID:32866505 Periglomerular fibrotic thickening human_phenotype HP:0032417 Periglomerular fibrosis is characterized by glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane. Periglomerular fibrosis HP:0032417 Circumferential fibrosis in the interstitium surrounding Bowman's capsule PMID:21204717 PMID:32866505 An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). 2019-03-02T13:28:34Z human_phenotype HP:0032418 Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported. Abnormal HDL subfraction concentration HP:0032418 An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm). PMID:17291473 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. 2019-03-02T13:30:55Z human_phenotype HP:0032419 Abnormal HDL2a concentration HP:0032419 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. PMID:17291473 An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. 2019-03-02T13:40:40Z human_phenotype HP:0032420 Increased HDL2a concentration HP:0032420 An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. PMID:17291473 A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. 2019-03-02T13:41:26Z human_phenotype HP:0032421 Decreased HDL2a concentration HP:0032421 A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm. PMID:17291473 Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. 2019-03-02T13:45:07Z human_phenotype HP:0032422 Abnormal HDL2b concentration HP:0032422 Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. PMID:17291473 A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. 2019-03-02T13:46:25Z human_phenotype HP:0032423 Decreased HDL2b concentration HP:0032423 A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. PMID:17291473 An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. 2019-03-02T13:46:32Z human_phenotype HP:0032424 Increased HDL2b concentration HP:0032424 An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm. PMID:17291473 Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. 2019-03-02T13:48:59Z human_phenotype HP:0032425 Abnormal HDL3a concentration HP:0032425 Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. PMID:17291473 Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. 2019-03-02T13:49:05Z human_phenotype HP:0032426 Abnormal HDL3b concentration HP:0032426 Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. PMID:17291473 Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. 2019-03-02T13:49:12Z human_phenotype HP:0032427 Abnormal HDL3c concentration HP:0032427 Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. PMID:17291473 An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. 2019-03-02T13:49:23Z human_phenotype HP:0032428 Increased HDL3a concentration HP:0032428 An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. PMID:17291473 A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. 2019-03-02T13:49:28Z human_phenotype HP:0032429 Decreased HDL3a concentration HP:0032429 A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm. PMID:17291473 An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. 2019-03-02T13:51:08Z human_phenotype HP:0032430 Increased HDL3b concentration HP:0032430 An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. PMID:17291473 A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. 2019-03-02T13:51:15Z human_phenotype HP:0032431 Decreased HDL3b concentration HP:0032431 A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm. PMID:17291473 An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. 2019-03-02T13:51:23Z human_phenotype HP:0032432 Increased HDL3c concentration HP:0032432 An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. PMID:17291473 A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. 2019-03-02T13:51:30Z human_phenotype HP:0032433 Decreased HDL3c concentration HP:0032433 A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm. PMID:17291473 Separation of the umbilical cord occurs at an abnormally late timepoint. 2019-03-02T15:01:57Z Delayed separation of umbilical cord human_phenotype HP:0032434 The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function. Delayed umbilical cord separation HP:0032434 Separation of the umbilical cord occurs at an abnormally late timepoint. PMID:11483823 An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. 2019-03-02T15:07:20Z Omphalitis Umbilical cord stump infection human_phenotype HP:0032435 The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis. Neonatal omphalitis HP:0032435 An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. PMID:30020710 Any deviation from the normal concentration of C-reactive protein in the blood circulation. 2019-03-02T15:10:11Z Abnormal C-reactive protein level Abnormal circulating C-reactive protein concentration human_phenotype HP:0032436 C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. Abnormal circulating C-reactive protein concentration HP:0032436 The concentration of C-reactive protein in the blood circulation is below the lower limit of normal. 2019-03-02T15:11:22Z Decreased C-reactive protein concentration Decreased C-reactive protein level Decreased C-reactive protein level in blood Decreased circulating C-reactive protein concentration Reduced C-reactive protein concentration Reduced C-reactive protein level Reduced C-reactive protein level in blood human_phenotype HP:0032437 Decreased circulating C-reactive protein concentration HP:0032437 Abnormally increased variability in the size of platelets. 2019-03-03T16:06:55Z human_phenotype HP:0032438 Platelet anisocytosis HP:0032438 Abnormally increased variability in the size of platelets. PMID:18065693 An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. 2019-03-03T16:15:03Z human_phenotype HP:0032439 Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores. Airborn particle hypersensitivity HP:0032439 An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen. PMID:30408667 PMID:8077583 ABO phenotype B, corresponding to the genotype BO or BB. 2019-03-03T16:34:03Z human_phenotype HP:0032440 Blood group B HP:0032440 ABO phenotype AB, corresponding to the genotype AB. 2019-03-03T16:37:30Z human_phenotype HP:0032441 Blood group AB HP:0032441 ABO phenotype O, corresponding to the genotype OO. 2019-03-03T16:37:48Z human_phenotype HP:0032442 Blood group O HP:0032442 In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc. 2019-03-03T16:39:26Z human_phenotype HP:0032443 This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem. Past medical history HP:0032443 The affected individual has received an organ transplant previous to the current medical encounter. 2019-03-03T16:49:25Z s/p organ transplantation human_phenotype HP:0032444 Status post organ transplantation HP:0032444 A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. 2019-03-03T17:31:21Z Lung cyst human_phenotype HP:0032445 The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall. Pulmonary cyst HP:0032445 A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid. PMID:20028879 Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. 2019-03-03T17:45:09Z Pulmonary bullae human_phenotype HP:0032446 Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema. Pulmonary bulla HP:0032446 Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. PMID:18195376 PMID:20028879 PMID:24106540 Pulmonary bullae A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. 2019-03-03T17:47:36Z human_phenotype HP:0032447 Pulmonary bleb HP:0032447 A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. PMID:12934786 PMID:18195376 PMID:20028879 A condition in which production of hydrochloric acid in the stomach is absent. 2019-03-03T17:54:51Z human_phenotype HP:0032448 Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production. Achlorhydria HP:0032448 A condition in which production of hydrochloric acid in the stomach is absent. PMID:29939570 An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. 2019-03-03T18:24:45Z human_phenotype HP:0032449 Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens. Abnormal dermoepidermal hemidesmosome morphology HP:0032449 An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. PMID:25487405 PMID:26017636 Detection of arsenic in the blood circulation. 2019-03-03T18:42:40Z human_phenotype HP:0032450 Positive blood arsenic test HP:0032450 Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. 2019-03-08T11:02:36Z Melanotic macule of oral mucosa human_phenotype HP:0032451 Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma. Oral melanotic macule HP:0032451 Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. PMID:24034073 PMID:26538887 Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. 2019-03-08T11:04:08Z human_phenotype HP:0032452 Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention. Oral melanoacanthoma HP:0032452 Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions. PMID:24034073 Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal. 2019-03-08T11:06:30Z human_phenotype HP:0032453 Abnormal lip pigmentation HP:0032453 Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. 2019-03-08T11:08:58Z Labial melanotic freckle human_phenotype HP:0032454 Labial melanotic macule HP:0032454 Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. PMID:24034073 PMID:26538887 Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. 2019-03-08T11:13:04Z human_phenotype HP:0032455 The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides. Reduced granulocyte CD18 level HP:0032455 Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry. PMID:20142805 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. 2019-03-08T11:17:49Z human_phenotype HP:0032456 Unlayered lissencephaly HP:0032456 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter. http://www.wikidata.org/entity/Q90573458 Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. 2019-03-08T11:53:39Z human_phenotype HP:0032457 2-3-layered lissencephaly HP:0032457 Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity. PMID:28440899 http://www.wikidata.org/entity/Q90573458 A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. 2019-03-09T17:27:09Z Medullary cavity obliteration Narrowing of bone marrow canal Narrowing of bone medullary canal Narrowing of the marrow cavity human_phenotype HP:0032458 Narrowing of medullary canal HP:0032458 A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. PMID:15894597 Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. 2019-03-09T17:34:47Z human_phenotype HP:0032459 Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout. Abnormal phosphoribosylpyrophosphate synthetase level HP:0032459 Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. PMID:4200723 Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. 2019-03-09T17:35:02Z human_phenotype HP:0032460 It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3. Decreased phosphoribosylpyrophosphate synthetase level HP:0032460 Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. PMID:17701900 PMID:20301731 HP:0045055 2019-03-09T12:47:30Z human_phenotype HP:0032461 obsolete Tiger-tail banding true HP:0032461 An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. 2019-03-09T17:54:11Z human_phenotype HP:0032462 Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG). Increased circulating palmitate level HP:0032462 An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation. PMID:29167646 A reduction below the normal concentration of fibronectin the the blood circulation. 2019-03-09T18:08:23Z Decreased plasma fibronectin human_phenotype HP:0032463 Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils. Reduced circulating fibronectin level HP:0032463 A reduction below the normal concentration of fibronectin the the blood circulation. PMID:27185500 Underdevelopment of the ureter. 2019-04-04T09:26:25Z Hypoplasia of the ureter Ureter hypoplasia human_phenotype HP:0032464 Ureteral hypoplasia HP:0032464 Underdevelopment of the ureter. https://orcid.org/0000-0001-5208-3432 Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. 2019-04-04T09:28:51Z Trabecular bladder human_phenotype HP:0032465 Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue. Bladder trabeculation HP:0032465 Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. PMID:28904941 https://orcid.org/0000-0001-5208-3432 Lack of formation (congenital absence) of the olfactory bulb. 2019-04-04T09:33:50Z Aplastic olfactory bulb Olfactory bulb aplasia human_phenotype HP:0032466 Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell. Aplasia of the olfactory bulb HP:0032466 Lack of formation (congenital absence) of the olfactory bulb. PMID:27863011 https://orcid.org/0000-0001-5208-3432 Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies. 2019-04-04T09:46:23Z Maternal medical history human_phenotype HP:0032467 Past obstetric history HP:0032467 One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). 2019-04-04T09:53:23Z human_phenotype HP:0032468 History of stillbirth HP:0032468 Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. 2019-04-09T10:39:31Z human_phenotype HP:0032469 Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis. Anti-asialoglycoprotein receptor antibody positivity HP:0032469 Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation. PMID:26000135 The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. 2019-04-09T10:47:20Z human_phenotype HP:0032470 This feature is often accompanied by hair loss. Monilethrix HP:0032470 The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture. PMID:22884362 Polymicrogyria affecting one or multiple small areas of the cerebral cortex. 2019-04-09T10:52:07Z human_phenotype HP:0032471 Focal polymicrogyria HP:0032471 Polymicrogyria affecting one or multiple small areas of the cerebral cortex. PMID:20198472 PMID:22427329 http://www.wikidata.org/entity/Q90573458 An abnormal concentration of urobilinogen in the urine. 2019-04-09T11:53:12Z human_phenotype HP:0032472 Abnormal urine urobilinogen level HP:0032472 An abnormally reduced concentration of urobilinogen in the urine. 2019-04-09T11:54:30Z human_phenotype HP:0032473 Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract. Decreased urine urobilinogen HP:0032473 2019-04-09T12:02:50Z human_phenotype HP:0032475 A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. 6-layered lissencephaly HP:0032475 A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location. http://www.wikidata.org/entity/Q90573458 An abnormal concentration of vitamin B6 in the blood circulation. 2019-04-09T12:06:29Z Abnormal circulating vitamin B6 level Abnormal circulating pyridoxal 5'-phosphate concentration human_phenotype HP:0032476 Pyridoxal 5'-phosphate is the active form of vitamin B6. Abnormal circulating vitamin B6 concentration HP:0032476 An abnormally increased concentration of vitamin B6 in the blood circulation. 2019-04-09T12:08:42Z Elevated circulating vitamin B6 level human_phenotype HP:0032477 Elevated circulating vitamin B6 concentration HP:0032477 Protrusion of the arachnoid and dura through spinal foramina. 2019-04-09T12:13:41Z human_phenotype HP:0032478 Lateral spinal meningocele HP:0032478 Protrusion of the arachnoid and dura through spinal foramina. PMID:24311540 It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. 2019-04-09T12:33:42Z Early embryonic arrest Preimplantation embryonic lethality human_phenotype HP:0032479 Preimplantation lethality HP:0032479 It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. PMID:27545678 An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. 2019-04-09T12:49:03Z human_phenotype HP:0032480 Beta-aminoisobutyric aciduria HP:0032480 An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine. PMID:30823446 Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). 2019-04-11T11:31:49Z human_phenotype HP:0032481 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. Abnormal pituitary glycoprotein hormone alpha subunit level HP:0032481 An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). 2019-04-11T11:33:21Z Decreased pituitary glycoprotein alpha subunit level Decreased pituitary glycoprotein polypeptide alpha subunit level human_phenotype HP:0032482 This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. Decreased pituitary glycoprotein hormone alpha subunit level HP:0032482 HP:0031685 2019-04-11T11:37:42Z human_phenotype HP:0032483 obsolete Abnormal fecal test result true HP:0032483 An elevated concentration of sodium in feces. 2019-04-11T11:38:39Z Elevated faecal sodium human_phenotype HP:0032484 Elevated fecal sodium HP:0032484 An elevated concentration of sodium in feces. PMID:26358773 Elevated faecal sodium Abnormal concentration of feces as assessed by the total number of solute particles per kilogram. 2019-04-11T11:40:55Z Abnormal faecal osmolality human_phenotype HP:0032485 Abnormal fecal osmolality HP:0032485 Abnormal faecal osmolality Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. 2019-04-11T11:41:54Z Elevated faecal osmolality human_phenotype HP:0032486 Elevated fecal osmolality HP:0032486 Elevated faecal osmolality Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram. 2019-04-11T11:42:10Z Reduced faecal osmolality human_phenotype HP:0032487 Reduced fecal osmolality HP:0032487 Reduced faecal osmolality Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline. 2019-04-11T11:44:26Z Abnormal faecal pH human_phenotype HP:0032488 Abnormal fecal pH HP:0032488 Abnormal faecal pH Abnormally high fecal pH, i.e., abnormal alkalinity of feces. 2019-04-11T11:45:31Z Elevated faecal pH Stool pH high human_phenotype HP:0032489 Elevated fecal pH HP:0032489 Elevated faecal pH Abnormally low fecal pH, i.e., abnormal acidity of feces. 2019-04-11T11:46:07Z Decreased faecal pH Stool pH low human_phenotype HP:0032490 Decreased fecal pH HP:0032490 Decreased faecal pH An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. 2019-04-11T12:01:22Z human_phenotype HP:0032491 Argininosuccinic acid is an intermediate in the urea cycle. Increased circulating argininosuccinic acid HP:0032491 An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation. PMID:22241104 https://orcid.org/0000-0002-8169-9049 Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. 2019-04-12T10:32:12Z Anti-MOG antibody positivity human_phenotype HP:0032492 Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis. Anti-myelin oligodendrocyte glycoprotein antibody positivity HP:0032492 Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein. PMID:28533781 https://orcid.org/0000-0001-9969-8610 Anti-MOG antibody positivity The concentration of trypsinogen in the blood circulation is above the upper limit of normal. 2019-04-12T10:39:08Z Increased immunoreactive trypsinogen human_phenotype HP:0032493 An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis. Elevated circulating trypsinogen concentration HP:0032493 A deviation from the normal proportion of terminal to vellus hairs. 2019-04-12T11:32:25Z human_phenotype HP:0032495 Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla. Abnormal terminal:vellus ratio HP:0032495 A deviation from the normal proportion of terminal to vellus hairs. PMID:12894995 An increased proportion of terminal hairs compared to vellus hairs. 2019-04-12T11:35:40Z human_phenotype HP:0032496 A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium. Elevated terminal:vellus ratio HP:0032496 An increased proportion of terminal hairs compared to vellus hairs. PMID:23044568 A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. 2019-04-12T11:38:06Z human_phenotype HP:0032497 An decreased proportion of terminal hairs compared to vellus hairs. Reduced terminal:vellus ratio HP:0032497 A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. PMID:23044568 The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. 2019-05-23T22:49:33Z human_phenotype HP:0032499 In Chediak Higashi syndrome, stimulus-induced giant granule mobilization is severely reduced, which may contribute to the propensity for severe bacterial infections. Giant neutrophil granules HP:0032499 The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. PMID:9665278 Applied to a sign or symptom that is worsened by smoking tobacco products. 2019-05-23T22:51:26Z Aggravated by tobacco use Exacerbated by smoking Smoking or tobacco use exacerbates symptoms human_phenotype HP:0032500 Exacerbated by tobacco use HP:0032500 Applied to a sign or symptom that is worsened by taking contraceptive medication. 2019-05-23T22:53:32Z Contraceptive pills aggravate symptoms human_phenotype HP:0032501 Exacerbated by contraceptive medication exposure HP:0032501 Applied to a sign or symptom that is worsened by taking barbituates. 2019-05-23T22:55:06Z Barbiturates produce worsening human_phenotype HP:0032502 Exacerbated by barbiturate exposure HP:0032502 Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol). 2019-05-23T22:56:25Z Ethanol reduces manifestations human_phenotype HP:0032503 Ameliorated by ethanol ingestion HP:0032503 An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. 2019-05-23T22:58:55Z Barber chair phenomenon Lhermitte's phenomenon human_phenotype HP:0032504 Lhermitte's sign is caused by miscommunication between the nerves that have become demyelinated. The pathophysiology of Lhermitte's sign was described as the stretching of the hyper excitable demyelinated dorsal column of the spinal cord, particularly at the cervical level, thus triggering an electric shock-like sensation. Lhermitte's sign HP:0032504 An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk. PMID:26019410 The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning. 2019-05-23T23:03:09Z human_phenotype HP:0032505 Hydrophobia has been described as a characteristic finding in rabies, which can prevent patients from drinking despite experiencing intense thirst. Hydrophobia HP:0032505 The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning. PMID:12121215 PMID:30564365 Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. 2019-05-23T23:05:15Z human_phenotype HP:0032506 Alien limb serves as a diagnostic feature of corticobasal syndrome. Alien limb phenomenon HP:0032506 Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. PMID:23572346 Fasciculations affecting the tongue muscle and the musculature of the chin. 2019-05-23T23:07:00Z Fasciculations, labiomental human_phenotype HP:0032507 Labiomental fasciculations HP:0032507 Habitual insertion of foreign bodies into bodily orifices. 2019-05-23T23:11:22Z human_phenotype HP:0032508 Polyembolokoilamania HP:0032508 Habitual insertion of foreign bodies into bodily orifices. PMID:22690353 Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. 2019-05-23T23:17:34Z human_phenotype HP:0032509 Onychotillomania should not be confused with onychophagia, which refers to self-induced damage to nails caused by nail biting. Onychotillomania HP:0032509 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. 2019-05-23T23:19:19Z human_phenotype HP:0032510 Tendon pain HP:0032510 The position of the umbilicus (belly button) is abnormally high (superior). 2019-05-23T23:22:24Z human_phenotype HP:0032511 Superiorly positioned umbilicus HP:0032511 Four-vessel umbilical cord containing two arteries and two veins. 2019-05-23T23:25:42Z human_phenotype HP:0032513 A normal umbilical cord contains two umbilical arteries and one umbilical vein. Four-vessel umbilical cord HP:0032513 Four-vessel umbilical cord containing two arteries and two veins. PMID:21391749 A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. 2019-05-23T23:34:54Z Accessory puncta Double lacrimal puncta Double punctum Lacrimal punctum, duplication Punctum reduplication Supernumerary punctum human_phenotype HP:0032514 Tears mainly produced by the lacrimal gland travel nasally across the eye toward the punctum, found on the medial margin of each eyelid. This term describes a congenital anomaly chanracterized by the presence of more than one lacrimal punctum in an eyelid. Accessory puncta are typically located on the lower lid medial to the normal punctum with a slit-like appearance. Supernumerary lacrimal punctum HP:0032514 A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid. PMID:19875171 PMID:25943682 A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. 2019-05-26T10:20:58Z human_phenotype HP:0032515 Deep dermatophytosis is is found primarily in immunocompromised patients with chronic dermatophytosis. This form of invasive disease may result from follicular rupture with direct cutaneous invasion, sometimes augmented by trauma or topical corticosteroid creams. It is not necessarily associated with hair follicles and tends to be more rapid in onset, larger, and extend deeper than Majocchi's granuloma. These infections can form clusters of granulomas, pseudomycetomas, lymphedema and draining sinuses. Deep dermatophytosis HP:0032515 A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. PMID:20092423 Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. 2019-05-26T10:24:20Z Disseminated dermatophyte infection Invasive dermatophyte infection human_phenotype HP:0032516 The most common presentation of dermatophytosis in clinical practice is the appearance of scaly, cutaneous lesions found on the trunk in tinea coporis (ringworm), the feet or toes in tinea pedis (athlete's foot), the crural fold in tinea cruris (jock itch), the scalp in tinea capitis (cradle cap), or a discoloration of the fingernails or toenails in tinea unguium (onychomycosis). Dermatophytosis is a typically noninvasive infection but can evolve into a more aggressive disease in the immunocompromised host. Severe dermatophyte infection HP:0032516 Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails. PMID:20092423 Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. 2019-05-26T10:32:18Z human_phenotype HP:0032517 Majocchi's granuloma (MG) is classified into two forms, depending on the affected individual's health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. The main cause of MG is Trichophyton rubrum, followed by T. mentagrophytes, T. violaceum, and T. tonsurans. However, several fungi, such as T. interdigitale, Microsporum canis, Nannizzia gypsea (former M. gypseum), Epidermophyton floccosum, and Aspergillus species, can also cause MG. Majocchi's granuloma HP:0032517 Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles. PMID:22435879 PMID:29861637 A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. 2019-05-26T10:37:28Z human_phenotype HP:0032518 Disseminated dermatophytosis tends to occur in patients with both defi cient T cell-mediated immunity and an impaired infl ammatory response. This process occurs either by direct extension, draining lymphatics, or hematogenous spread. It can present with involvement of distant skin areas, lymph nodes, bone, muscle, liver, spleen, testes or the central nervous system. Ultimately, disseminated infection can result in bacterial superinfection, osteomyelitis, organ dysfunction and eventual death. Disseminated dermatophytosis HP:0032518 A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs. PMID:20092423 PMID:29861637 Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. 2019-05-26T11:08:57Z human_phenotype HP:0032519 Increased Burr cell count HP:0032519 Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals. PMID:5614071 Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw. 2019-05-26T11:14:27Z human_phenotype HP:0032520 Masseter muscular weakness HP:0032520 Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. 2019-05-26T11:19:58Z Spasmodic upper-body squeeze human_phenotype HP:0032521 This is a characteristic behavior in Smith-Magenis syndrome. Self hugging HP:0032521 Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. PMID:8132119 Spasmodic upper-body squeeze https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication. 2019-05-26T11:24:41Z Immunosupressive therapy improves condition human_phenotype HP:0032522 Ameliorated by immunosuppresion HP:0032522 An abnormal increase in the thickness (diameter) of a tendon. 2019-05-26T11:35:27Z human_phenotype HP:0032523 Tendon thickening HP:0032523 An abnormal increase in the thickness (diameter) of a tendon. PMID:24932450 Length of the thumb is greater than normal. 2019-05-26T11:38:36Z human_phenotype HP:0032524 Long thumb HP:0032524 Length of the thumb is greater than normal. PMID:7246605 Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon). 2019-05-26T11:44:24Z human_phenotype HP:0032525 Exacerbated by acetylcholinesterase inhibitor exposure HP:0032525 Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon. 2019-05-26T11:47:48Z human_phenotype HP:0032526 Ameliorated by acetylcholinesterase inhibitor HP:0032526 The position of the umbilicus (belly button) is abnormally low (inferior). 2019-05-26T11:50:43Z Low set umbilicus Low-set umbilicus human_phenotype HP:0032527 Inferiorly positioned umbilicus HP:0032527 An increased amount of 4-hydroxybutyric acid in the urine. 2019-05-27T12:47:50Z human_phenotype HP:0032528 A 4-hydroxy monocarboxylic acid that is butyric acid in which one of the hydrogens at position 4 is replaced by a hydroxy group. Elevated urinary 4-hydroxybutyric acid HP:0032528 HP:0410053 2019-05-27T12:51:41Z human_phenotype HP:0032529 obsolete Elevated circulating gamma-aminobutyric acid concentration true HP:0032529 Reduced level of succinic semialdehyde dehydrogenase (SSADH). 2019-05-27T12:55:45Z Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts Decreased succinic semialdehyde dehydrogenase leukocyte activity Decreased succinic semialdehyde dehydrogenase level human_phenotype HP:0032530 Succinic semialdehyde dehydrogenase catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Decreased tissue succinic semialdehyde dehydrogenase activity HP:0032530 Reduced level of succinic semialdehyde dehydrogenase (SSADH). PMID:25485164 2019-05-27T12:58:14Z Gamma-aminobutyric acid (GABA) high in CSF human_phenotype HP:0032531 Abnormally increased level of gamma-amino butyric acid (GABA) in the cerebrospinal fluid (CSF). Elevated CSF gamma-aminobutyric acid concentration HP:0032531 Abnormally increased level of gamma-amino butyric acid (GABA) in the cerebrospinal fluid (CSF). PMID:25485164 Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). 2019-05-27T13:00:12Z Elevated CSF GHB levels Elevated CSF gamma-hydroxybutyric acid human_phenotype HP:0032532 Elevated CSF 4-hydroxybutyric acid concentration HP:0032532 Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). PMID:25485164 Elevated CSF GHB levels An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. 2019-05-27T13:06:14Z human_phenotype HP:0032533 Elevated circulating acetone concentration HP:0032533 An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies. PMID:28278308 Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate). 2019-05-27T13:08:24Z Methylxanthines produce worsening human_phenotype HP:0032534 Exacerbated by methylxanthine ingestion HP:0032534 Applies to an abnormality that is situated in the neck. 2019-05-27T13:12:21Z human_phenotype HP:0032535 Cervical (neck) HP:0032535 An abnormally elevated number of lymph nodes in an anatomical region. 2019-05-27T13:15:53Z human_phenotype HP:0032536 For example, lymphedema-distichiasis syndrome is characterized by an increased number of lymphatic vessels and inguinal lymph nodes. Increased number of lymph nodes HP:0032536 An abnormally elevated number of lymph nodes in an anatomical region. PMID:20301630 A delay in healing of a fracture past the expected duration. 2019-05-27T13:23:40Z human_phenotype HP:0032537 Initially, after injury a hematoma forms and this is followed by inflammatory cells arriving at the fracture site to debride the wound. During the soft callus phase of healing a collar of bone forms at the periosteum adjacent to the fractured bone, and cells in the periosteum proliferate and differentiate into chondrocytes that form cartilage that bridges the fracture gap. During the hard callus phase, the cartilage is replaced by bone through endochondral ossification, possibly by transformation of some of the chondrocytes into osteoblasts. Finally, through remodeling, newly formed bone is restored to its pre-injured state. Depending on the site of the fracture, healing usually takes from 3 to 12 weeks in healthy adults. Delayed fracture healing HP:0032537 A delay in healing of a fracture past the expected duration. PMID:24857030 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. 2019-05-27T13:33:38Z human_phenotype HP:0032538 Pretibial dimple HP:0032538 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. PMID:23444103 Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint. 2019-05-27T13:48:37Z human_phenotype HP:0032539 Joint extensor surface localization HP:0032539 Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed). 2019-05-27T13:51:06Z human_phenotype HP:0032540 Joint flexor surface localization HP:0032540 Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. 2019-05-27T15:11:27Z DDN Dorsal dupuytren nodules Knuckle pads on dorsal aspect of finger joints human_phenotype HP:0032541 Knuckle pads can be associated with camptodactyly (fixed flexion deformity of the interphalangeal joints of the little finger) as overlapping symptoms and are associated with many genetic factors. Although they can be associated to repetitive local trauma (for example repetitive batting of the knuckles, e.g. by boxers or suction the fingers by children), coexist with palmar (Dupuytren disease) or plantar fibromatosis (Ledderhose disease) or Peyronie disease, most knuckle pads are idiopathic. Knuckle pad HP:0032541 Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. PMID:26672439 DDN Knuckle pads on dorsal aspect of finger joints Applied to a sign or symptom that is worsened by being pregnant. 2019-05-27T15:16:46Z human_phenotype HP:0032542 Exacerbated by pregnancy HP:0032542 Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. 2019-05-27T15:19:14Z human_phenotype HP:0032543 Lithoptysis HP:0032543 Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. PMID:23949189 PMID:29970776 Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. 2019-06-12T10:19:53Z human_phenotype HP:0032544 Predominant small joint localization HP:0032544 Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. 2019-06-12T10:23:20Z Rigid abdomen human_phenotype HP:0032545 Abdominal rigidity HP:0032545 A voluntary contraction of the abdominal wall musculature to avoid pain. 2019-06-12T10:33:12Z human_phenotype HP:0032546 Abdominal guarding tends to be generalized over the entire abdomen. In contrast to abdominal rigidity, guarding can often be overcome by having the patient purposely relax the muscles; rigidity cannot be. Abdominal guarding HP:0032546 An abnormal decrease of the pressure within the eye. 2019-06-12T10:37:45Z Ocular hypotony human_phenotype HP:0032547 Ocular hypotony is defined statistically as an intraocular pressure (IOP) of less than 6.5 mmHg, three standard deviations below the mean. Clinically significant hypotony is when the IOP is so low that there is resultant visual loss. Hypotony has also been described as low pressure in an individual eye, leading to functional changes and structural changes. Low intraocular pressure HP:0032547 An abnormal decrease of the pressure within the eye. PMID:26253854 Abnormally elevated placental thickness. 2019-06-12T10:49:00Z Placental thickness increased human_phenotype HP:0032548 Placental thickness can be measured ultrasonographically at the thickest portion of the placenta or beneath the cord insertion, and in a representative portion perpendicular to the chorionic plate. The ultrasonographic measurement of placental thickness is a simple method to estimate placental size, and a thick placenta may be a useful predictor of adverse pregnancy outcomes. Increased placental thickness HP:0032548 Abnormally elevated placental thickness. PMID:25077064 Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. 2019-06-12T10:56:12Z Persistent fencer's reflex Tonic neck reflex asymmetrical and persistent human_phenotype HP:0032549 Persistent asymmetrical tonic neck reflex HP:0032549 Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. PMID:441119 Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. 2019-06-14T10:19:19Z human_phenotype HP:0032550 Purple spheres, usually about 0.5 micrometers in diameter, presenting singly, or rarely multiply, in the cytoplasm of red blood cells. Howell-Jolly bodies HP:0032550 Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. PMID:21250106 PMID:26331020 https://orcid.org/0000-0001-9969-8610 Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. 2019-06-14T10:37:17Z Haemorrhoids Piles human_phenotype HP:0032551 Hemorrrhoids result from dilation of the submucosal vascular tissue in the distal anal canal. This vascular tissue is supported by connective tissue that, when weakened, leads to descent or prolapse of the hemorrhoids. Internal hemorrhoids originate above the dentate line (i.e., the junction between columnar and squamous epithelium) and are viscerally innervated and, therefore, painless. External hemorrhoids originate below the dentate line, have somatic innervation, and can cause pain. Some patients have both internal and external (mixed) hemorrhoids. Hemorrhoids HP:0032551 Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain. PMID:21766771 Haemorrhoids Piles An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart. 2019-06-14T10:43:44Z human_phenotype HP:0032552 Abnormal pulse HP:0032552 A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. 2019-06-14T10:47:25Z human_phenotype HP:0032553 Weak pulse HP:0032553 The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination. 2019-06-14T10:48:40Z human_phenotype HP:0032554 Absent pulse HP:0032554 Increased amplitude (strength) of the pulse. 2019-06-14T10:50:57Z human_phenotype HP:0032555 Bounding pulse HP:0032555 Persistent blue color of the skin that surrounds the mouth. 2019-06-14T10:53:39Z Bluish around mouth human_phenotype HP:0032556 Circumoral cyanosis may be a sign of peripheral or of central cyanosis. Circumoral cyanosis HP:0032556 Persistent blue color of the skin that surrounds the mouth. PMID:2797223 Bluish around mouth A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. 2019-06-14T11:13:53Z Status post haematopoietic stem cell transplantation Status post hematopoietic stem cell transplantation human_phenotype HP:0032557 History of bone marrow transplant HP:0032557 A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor. PMID:24198516 Status post haematopoietic stem cell transplantation Sperm cells lacking flagella. 2019-06-15T00:17:58Z human_phenotype HP:0032558 See Figure 1B from PMID:30867909. Absent sperm flagella HP:0032558 Sperm cells lacking flagella. PMID:30867909 Sperm cells with abnormally short flagella. 2019-06-15T00:21:15Z human_phenotype HP:0032559 See Figure 1B of PMID:30867909. Short sperm flagella HP:0032559 Sperm cells with abnormally short flagella. PMID:30867909 Sperm cells whose flagella are twisted (coiled). 2019-06-15T00:22:19Z human_phenotype HP:0032560 Coiled sperm flagella HP:0032560 Sperm cells whose flagella are twisted (coiled). PMID:28552195 Decreased size of the head of sperm. 2019-06-15T00:25:50Z Small-head sperm human_phenotype HP:0032561 Microcephalic sperm head HP:0032561 Small-head sperm Sperm with cigar-shaped heads that gradually dimish in diameter (taper). 2019-06-15T00:28:27Z human_phenotype HP:0032562 Tapered sperm head HP:0032562 Sperm with cigar-shaped heads that gradually dimish in diameter (taper). PMID:28692759 Presence of teardrop-shaped red blood cells. 2019-06-15T00:47:45Z Dacryocytes Tear-drop shaped erythrocytes human_phenotype HP:0032563 Dacryocytosis HP:0032563 Presence of teardrop-shaped red blood cells. PMID:21250106 https://orcid.org/0000-0001-9969-8610 Inflammation of the ileum. 2019-06-19T10:14:03Z Inflammation of the ileum human_phenotype HP:0032564 Ileitis may present acutely with right lower quadrant pain and/or diarrhea, or with chronic obstructive symptoms and bleeding. Ileitis HP:0032564 Inflammation of the ileum. PMID:20532706 2019-06-19T10:17:59Z human_phenotype HP:0032565 A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. Vaginal mucosal ulceration HP:0032565 A breach of the continuity of the mucous membrane of the vagina caused by sloughing out of inflamed necrotic tissue, usually associated with eschars (slough or piece of dead tissue) and with violaceous to erythematous borders. PMID:18427055 Enlarged, oval-shaped erythrocytes (red blood cells). 2019-06-19T10:24:42Z human_phenotype HP:0032566 See Figure 1 of PMID:19202968. Oval macrocytosis HP:0032566 Enlarged, oval-shaped erythrocytes (red blood cells). PMID:16988104 PMID:19202968 PMID:28821482 https://orcid.org/0000-0001-9969-8610 An increased lipid content in the urine. 2019-06-19T10:35:31Z Urinary lipid excretion human_phenotype HP:0032567 Lipiduria HP:0032567 An increased lipid content in the urine. PMID:26124059 PMID:29950951 https://orcid.org/0000-0001-9969-8610 Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. 2019-06-19T10:42:15Z human_phenotype HP:0032568 See Figure 1 of PMID:28593486. Urinary mulberry cells HP:0032568 Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. PMID:28593486 Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head. 2019-06-19T10:48:04Z human_phenotype HP:0032569 Temporal bossing HP:0032569 Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. 2019-07-04T09:56:00Z Pontine ischaemic lacunes human_phenotype HP:0032570 Pontine ischemic lacunes HP:0032570 Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. PMID:16324092 Pontine ischaemic lacunes An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. 2019-12-10T07:47:23Z human_phenotype HP:0032571 Increased oocyte death HP:0032571 An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. PMID:30918116 A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U). 2019-12-10T07:58:17Z human_phenotype HP:0032572 Abnormal urinary nucleobase concentration HP:0032572 Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. 2019-12-10T07:58:17Z human_phenotype HP:0032573 Elevated urinary cytidine HP:0032573 Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. PMID:30847922 Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. 2019-12-10T08:03:06Z Elevated uridine in urine human_phenotype HP:0032574 Elevated urinary uridine level HP:0032574 Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. PMID:30847922 A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. 2019-12-10T08:03:06Z Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration human_phenotype HP:0032575 Decreased circulating 12-HETE HP:0032575 A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. PMID:25102815 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. 2019-12-14T09:45:01Z human_phenotype HP:0032576 Intracellular accumulation of Dol-PP-GlcNAc2Man5 can result from a defect in ALG3, which encodes a mannosyltransferase that transfers mannose from dolichyl phosphate mannose. The accumulation can be measured in fibroblasts. During protein N-glycosylation, glycans from lipid-linked oligosaccharides (LLOs) are transferred onto asparagine residues located in N-glycosylation sequons. The synthesis of LLO comprises three steps: It begins with the biosynthesis of the intermediate Dol-PP-GlcNAc2Man5, which occurs on the cytoplasmic side of the endoplasmic reticulum (ER). The second step is the flipping of this intermediate to the luminal side of the ER. The third step comprises the glycan extension in the ER lumen, yielding Dol-PP-GlcNAc2Man9. Intracellular accumulation of Dol-PP-GlcNAc2Man5 HP:0032576 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. PMID:10581255 PMID:16053906 PMID:28575298 https://orcid.org/0000-0001-5208-3432 Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. 2019-12-14T09:59:49Z human_phenotype HP:0032577 Clonal T cell receptor rearrangement HP:0032577 Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. PMID:24688753 An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. 2019-12-14T11:46:18Z human_phenotype HP:0032578 The colloid cyst is most commonly found in the rostral third ventricle at or near the foramen of Monro. The foramen of Monro is the conduit of cerebrospinal fluid (CSF) outflow from the lateral ventricles to the third ventricle. A colloid cyst can act as a ball valve, stopping CSF flow out of the lateral ventricles. If this occurs, CSF backs up into the lateral ventricles and causes ventriculomegaly and hydrocephalus. Third ventricle colloid cyst HP:0032578 An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus. PMID:30542631 A benign focal growth composed of vascular tissue. 2019-12-14T11:46:18Z human_phenotype HP:0032579 Vascular hamartoma HP:0032579 A benign focal growth composed of vascular tissue. NCIT:C3438 Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. 2019-12-14T11:46:18Z human_phenotype HP:0032580 The portion of the embryonic heart that receives blood is called the sinus venosus. There are two horns, the left and the right, that pump blood into the primordial atrium, which is then pumped into the ventricle and the bulbus cordis. From the bulbus cordis, it goes into the aortic sac which is connected to the first aortic arch. Abnormal bulbus cordis morphology HP:0032580 Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. PMID:25274757 Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. 2019-12-21T06:50:33Z human_phenotype HP:0032581 Abnormal renal interstitial morphology HP:0032581 Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. PMID:25813241 Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. 2019-12-21T06:50:33Z human_phenotype HP:0032582 FCs are the outcome of cellular lipid accumulation due to lipid metabolic dysfunction. Normally, lipid is in a dynamic equilibrium outside and inside of the cell. When factors facilitate cell lipid intake or reduce its efflux, it subsequently resulted in cellular lipid accumulation and FC formation. Renal interstitial FCs are commonly encountered in Alport syndrome and are occasionally observed in various other kidney diseases, including idiopathic membranous nephropathy (IMN), IgA nephropathy (IgAN), focal and segmental glomerulosclerosis (FSGS), and membranoproliferative glomerulonephritis. Renal interstitial foam cells HP:0032582 Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. PMID:19672113 PMID:25887903 2019-12-21T06:50:33Z human_phenotype HP:0032583 Accumulation of foam cells (FC) in glomeruli of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. Renal glomerular foam cells HP:0032583 Accumulation of foam cells (FC) in glomeruli of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. PMID:19672113 PMID:25887903 Increased numbers of neutrophils in the interstitial tissues of the kidney. 2019-12-21T06:52:45Z human_phenotype HP:0032584 Renal interstitial neutrophil infiltration HP:0032584 Increased numbers of neutrophils in the interstitial tissues of the kidney. PMID:29537990 Increased numbers of eosinophils in the interstitial tissues of the kidney. 2019-12-21T06:54:57Z human_phenotype HP:0032585 Renal interstitial eosinophil infiltration HP:0032585 Increased numbers of eosinophils in the interstitial tissues of the kidney. PMID:10052481 PMID:20336051 Increased numbers of plasma cells in the interstitial tissues of the kidney. 2019-12-21T06:58:40Z human_phenotype HP:0032586 Renal interstitial plasma cell infiltration HP:0032586 Increased numbers of plasma cells in the interstitial tissues of the kidney. PMID:28904438 The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. 2019-12-21T06:58:40Z human_phenotype HP:0032587 Renal interstitial calcium oxalate HP:0032587 The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney. PMID:23221343 Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. 2019-12-21T07:56:40Z Lack of purposeful hand use human_phenotype HP:0032588 Hand apraxia HP:0032588 Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. PMID:20345957 Infiltration of the renal tubular epithelium by lymphocytes. 2019-12-21T08:01:56Z human_phenotype HP:0032589 Renal lymphocytic tubulitis HP:0032589 Infiltration of the renal tubular epithelium by lymphocytes. PMID:29537990 Infiltration of the renal tubular epithelium by neutrophils. 2019-12-21T08:03:06Z human_phenotype HP:0032590 Renal neutrophilic tubulitis HP:0032590 Infiltration of the renal tubular epithelium by neutrophils. PMID:29537990 Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. 2019-12-21T08:14:19Z human_phenotype HP:0032591 Hemosiderin is an iron-containing, golden-brown, granular pigment derived from ferritin, the initial iron-storage protein. As iron accumulates within the cell, aggregates of ferritin molecules form hemosiderin. Upon hemolysis of red blood cells, hemoglobin alpha-beta dimers are released that, if unbound to haptoglobin, are filtered by the glomerulus and appear in the urine as hemoglobinuria. The hemoglobin dimers are taken up by renal proximal tubular cells and degraded and the free chelatable iron is stored as hemosiderin in the lysosomes. Hemosiderin deposition in kidney tubular cells has been reported in different types of hemolytic anemia including autoimmune hemolytic anemia and paroxysmal nocturnal hemoglobinuria and sickle cell anemia and after cardiac valve replacement with residual valvular regurgitation or perivalvular leak. Renal interstitial hemosiderin HP:0032591 Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. PMID:26491580 Congenital absence of the right-sided diaphragm. 2019-12-22T09:08:39Z Right diaphragmatic hernia human_phenotype HP:0032592 Aplasia of the right hemidiaphragm HP:0032592 A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. 2019-12-22T09:23:06Z human_phenotype HP:0032593 Myoglobin casts HP:0032593 A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. PMID:28398539 Naked basement membranes without tubular epithelium. 2019-12-22T09:32:44Z Denuded tubular basement membrane human_phenotype HP:0032594 Renal tubular basement membrane denudation HP:0032594 Naked basement membranes without tubular epithelium. PMID:29875323 Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. 2019-12-22T09:35:38Z human_phenotype HP:0032595 The term Renal tubular epithelial cell detachment (HP:0032595) is a renal biopsy determination. The term Increased urinary renal tubular epithelial cell count (HP:0032213) should be used for the urine cytology finding of increased renal tubular epithelial cells in a urine sample. Renal tubular epithelial cell detachment HP:0032595 Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. PMID:29537990 Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. 2019-12-22T09:35:38Z human_phenotype HP:0032596 Renal tubular epithelial cell cytoplasmic vacuolization HP:0032596 Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. PMID:29537990 At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. 2019-12-22T09:36:55Z human_phenotype HP:0032597 This term is determined by assessment of the lumina of renal tubules upon renal biopsy. The term Increased urinary renal tubular epithelial cell count (HP:0032213) should be used for the urine cytology finding of increased renal tubular epithelial cells in a urine sample. Renal tubular epithelial cell sloughing HP:0032597 At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. PMID:29537990 Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. 2019-12-22T09:40:47Z human_phenotype HP:0032598 Blebbing of apical cytoplasm of renal tubular epithelial cells HP:0032598 Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. PMID:29537990 Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. 2019-12-22T09:54:52Z human_phenotype HP:0032599 Abnormal renal tubular epithelial morphology HP:0032599 Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. 2019-12-22T09:54:52Z human_phenotype HP:0032600 Renal tubular epithelial cell hyaline droplets HP:0032600 Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. PMID:29537990 Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. 2019-12-22T09:56:57Z human_phenotype HP:0032601 Multinucleation of renal tubular epithelial cells HP:0032601 Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. PMID:29537990 Tubular epithelium with nucleoli clearly visible at 100-fold magnification. 2019-12-22T09:58:43Z human_phenotype HP:0032602 Prominent nucleoli of renal tubular epithelial cells HP:0032602 Tubular epithelium with nucleoli clearly visible at 100-fold magnification. PMID:29537990 Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. 2019-12-22T10:02:13Z human_phenotype HP:0032603 Renal tubular epithelial cell simplification HP:0032603 Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. PMID:29537990 Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. 2019-12-22T10:05:04Z human_phenotype HP:0032604 Renal tubular epithelial cell mitosis HP:0032604 Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. PMID:29537990 At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. 2019-12-22T10:05:04Z High N/C ratio of renal tubular epithelial cells human_phenotype HP:0032605 High renal tubular epithelial cell N/C ratio HP:0032605 At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. PMID:29537990 Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. 2019-12-22T10:12:25Z human_phenotype HP:0032606 Renal tubular epithelial lipofuscin HP:0032606 Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. PMID:31076149 Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. 2019-12-22T10:22:35Z human_phenotype HP:0032607 Renal tubular epithelial cell swelling HP:0032607 Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. PMID:29537990 A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. 2019-12-24T08:52:01Z human_phenotype HP:0032608 Thyroidization-type tubular atrophy HP:0032608 A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. PMID:27211375 https://orcid.org/0000-0003-2356-950X A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. 2019-12-24T09:01:15Z Endocrinization pattern of tubular atrophy Renal tubular atrophy, endocrine-type human_phenotype HP:0032609 Endocrine-type tubular atrophy HP:0032609 A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. PMID:27211375 PMID:7906246 https://orcid.org/0000-0003-2356-950X Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. 2019-12-24T09:04:56Z Renal tubulointerstitial mycobacterial organisms human_phenotype HP:0032610 Tubulointerstitial mycobacterial infiltration HP:0032610 Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. PMID:23303798 Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. 2019-12-24T09:08:20Z human_phenotype HP:0032611 Renal tubular epithelial cells process reabsorbed urinary hemoglobin to hemosiderin. Renal tubular epithelial cell hemosiderin HP:0032611 Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. PMID:25441434 PMID:29537990 https://orcid.org/0000-0003-2356-950X A hallux (big toe) with three phalanges in a single, proximo-distal axis. 2020-01-08T07:05:13Z human_phenotype HP:0032612 This feature can be seen in Figure 1c of PMID:22486404. Triphalangeal hallux HP:0032612 A hallux (big toe) with three phalanges in a single, proximo-distal axis. PMID:19760621 PMID:22486404 Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. 2020-01-18T10:31:55Z Renal interstitial amyloid Renal interstitial amyloid deposition Renal interstitial amyloidosis human_phenotype HP:0032613 Renal interstitial amyloid deposits HP:0032613 Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. PMID:25852856 https://orcid.org/0000-0003-2356-950X Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. 2020-01-18T10:31:55Z human_phenotype HP:0032614 Renal glomerular amyloid deposition HP:0032614 Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. PMID:21427073 A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. 2020-01-18T10:31:55Z Diffusion weighted imaging (DWI) abnormality Diffusion weighted magnetic resonance imaging (DWI) abnormality MRI diffusion abnormality of the cerebrum human_phenotype HP:0032615 Abnormal diffusion weighted cerebral MRI morphology HP:0032615 A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. PMID:11058626 https://orcid.org/0000-0002-7440-8864 Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). 2020-02-01T09:09:23Z Renal interstitial immunoglobulin deposition human_phenotype HP:0032616 Monoclonal immunoglobulin deposition is characterized by nonorganized electron-dense granular deposits predominantly localized in basement membranes of the kidney (other organs may additionally be affected). By light microscopy, tubular lesions are characterized by the deposition of a refractile, eosinophilic, periodic acid-Schiff (PAS)-positive, ribbon-like material along the tubular basement membrane. immunofluorescence examination of the kidney. Immunofluoerescence may show evidence of monotypic light or heavy chain fixation along tubular basement membranes. Electron microscopy can show finely to coarsely granular electron-dense deposits along the outer (interstitial) aspect of the tubular basement membranes. Renal interstitial immunoglobulin deposits HP:0032616 Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). PMID:11423587 PMID:28509073 A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. 2020-02-01T09:16:24Z Renal interstitial haemorrhage human_phenotype HP:0032617 Renal interstitial hemorrhage HP:0032617 A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. PMID:20709744 PMID:29537990 https://orcid.org/0000-0003-2356-950X Renal interstitial haemorrhage Cell death (necrosis) affecting one or more parts of the kidney. 2020-02-02T08:06:17Z Renal parenchymal necrosis human_phenotype HP:0032618 Renal necrosis HP:0032618 A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney). 2020-02-01T09:51:09Z human_phenotype HP:0032619 Detecting its presence can be diagnostically challenging because, in its chronic form, it usually develops insidiously, and in some cases its appearance can even simulate a renal tumor. The presence of a perinephric collection of purulent material around the kidneys occurs more often insidiously as a secondary phenomenon to upper tract urosepsis, classically in association with an infective staghorn renal calculus. Perinephric abscess HP:0032619 An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. 2020-02-01T09:51:09Z Renal abscess Renal parenchymal abscess human_phenotype HP:0032620 Most renal abscesses are caused by gram-negative bacteria and are commonly caused by ascending infection associated with urologic abnormality, obstruction or calculi. Intrarenal abscess HP:0032620 An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis. PMID:27998164 https://orcid.org/0000-0003-2356-950X At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. 2020-02-01T09:54:20Z Condensed chromatin of renal tubular epithelial cells human_phenotype HP:0032621 Hyperchromasia of renal tubular epithelial cells HP:0032621 At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. PMID:29537990 https://orcid.org/0000-0003-2356-950X Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. 2020-02-01T11:25:01Z Tubular ectasia human_phenotype HP:0032622 By definition, ,tubular luminal dilatation excludes simplifcation, which is defined as a tubular cross-section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush borderinvolving over 50 percent of the tubular cells in cross-section, resulting in an apparent increase in the size of lumen, without presence of casts. Tubular luminal dilatation HP:0032622 Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. PMID:29537990 https://orcid.org/0000-0003-2356-950X Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. 2020-02-01T13:16:05Z Tubular casts human_phenotype HP:0032623 Casts can be subsequently eliminated via the urine and may be seen by microscopy of the urine sediment, which should be coded separately using an appropriate term from the Cylindruria subhierarchy (HP:0012615). Intratubular casts may have various compositions with different morphologic and staining characteristics. Both hyaline and granular casts may be observed in a number of renal diseases. Commonly observed casts are hyaline (eosinophilic, homogeneous proteinaceous) casts associated with increased glomerular permeability such as with chronic progressive nephropathy and granular (necrotic cellular debris) casts. Renal intratubular casts HP:0032623 Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. PMID:29537990 https://orcid.org/0000-0003-2356-950X A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). 2020-02-01T13:19:07Z human_phenotype HP:0032624 Intratubular bilirubin casts HP:0032624 A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). PMID:28398539 Casts that contain red blood cells and are located within the tubuli of the kidney. 2020-02-01T13:30:45Z human_phenotype HP:0032625 Intratubular erythrocyte cast HP:0032625 Casts that contain red blood cells and are located within the tubuli of the kidney. PMID:21959738 Intratubular casts composed of vancomycin aggregates and uromodulin. 2020-02-01T13:35:25Z human_phenotype HP:0032626 The casts appear as nonspecific proteinaceous casts within the tubular lumenss on light microscopy. Immunostaining can be used to confirm the presence of vancomycin. Intratubular vancomycin casts HP:0032626 Casts that contain white blood cells and are located within the tubuli of the kidney. 2020-02-01T13:37:39Z human_phenotype HP:0032627 Intratubular leukocyte casts HP:0032627 2020-02-01T13:40:37Z human_phenotype HP:0032628 Renal intratubular crystals HP:0032628 Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. 2020-02-01T13:40:37Z human_phenotype HP:0032629 Intratubular dihydroxyadenuria crystals HP:0032629 Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. PMID:20064951 The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. 2020-02-01T13:46:11Z human_phenotype HP:0032630 This feature can be ascertained by (i) Light microscopy: The biopsy shows chronic tubulointerstitial nephritis with fractured casts that first involve the distal tubules. The casts have a metachromatic appearance due to their mixed composition of light chain (Bence-Jones) and Tamm-Horsfall (uromodulin) proteins. Surrounding cellular reaction can extend to formation of syncytial giant cells, and in the early phase may be a polymorphonuclear granulocyte reaction. (ii) Immunofluorescence microscopy: Monoclonal staining of casts for either kappa or lambda light chains confirm the diagnosis, but clonal staining may be absent in some cases. Staining of formalin-fixed paraffin-embedded material after pronase digestion may unmask clonal staining in some of these cases. (iii) Electron microscopy: Glomeruli are unremarkable, and casts show granular electron-dense material. Crystalline substructure may be seen within these light chain casts. In rare cases, deposits of amyloid may form on the surface of the casts. Intratubular light-chain casts HP:0032630 The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. PMID:26916380 https://orcid.org/0000-0003-2356-950X A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. 2020-02-01T13:49:57Z Intratubular haemoglobin casts human_phenotype HP:0032631 Intratubular hemoglobin casts HP:0032631 A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. PMID:25441434 https://orcid.org/0000-0003-2356-950X Intratubular haemoglobin casts Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. 2020-02-02T08:06:17Z human_phenotype HP:0032632 Renal papillary necrosis HP:0032632 Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei. PMID:28584810 A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. 2020-02-02T08:20:31Z Intratubular Tamm-Horsfall (uromodulin) casts human_phenotype HP:0032633 Intratubular hyaline casts HP:0032633 A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. PMID:393892 https://orcid.org/0000-0003-2356-950X Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. 2020-02-02T08:44:41Z human_phenotype HP:0032634 Intratubular myoglobin cast HP:0032634 Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. PMID:28115066 PMID:29942498 https://orcid.org/0000-0003-2356-950X Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. 2020-02-08T09:30:35Z human_phenotype HP:0032635 Tubulointerstitial microganismal infiltration HP:0032635 Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. https://orcid.org/0000-0003-2356-950X Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. 2020-02-08T10:01:12Z Renal tubulointerstitial viral inclusions human_phenotype HP:0032636 Tubulointerstitial viral infiltration HP:0032636 Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. 2020-02-08T10:01:12Z Renal interstitial oedema human_phenotype HP:0032637 Renal interstitial edema HP:0032637 Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. PMID:24454932 https://orcid.org/0000-0003-2356-950X Renal interstitial oedema An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. 2020-02-08T10:10:25Z Elevated urine mevalonate Elevated urine mevalonate levels Elevated urine mevalonic acid Mevalonate aciduria human_phenotype HP:0032638 Elevated urine mevalonic acid level HP:0032638 An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. PMID:3680522 An increased concentration of cystine within white blood cells. 2020-02-08T10:15:12Z human_phenotype HP:0032639 Elevated leukocyte cystine HP:0032639 An increased concentration of cystine within white blood cells. PMID:27102039 PMID:31892015 The concentration of CCL18 in the blood circulation is above the upper limit of normal. 2020-02-09T08:20:25Z Elevated C-C motif chemokine 18 concentration Elevated C-C motif chemokine 18 level Elevated C-C motif chemokine 18 level in blood Elevated circulating CCL18 concentration Increased C-C motif chemokine 18 concentration Increased C-C motif chemokine 18 level Increased C-C motif chemokine 18 level in blood Increased C-C motif chemokine ligand 18 concentration human_phenotype HP:0032640 Elevated circulating CCL18 concentration HP:0032640 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. 2020-02-09T08:40:10Z Renal interstitial granulomata human_phenotype HP:0032641 Renal interstitial granulomas HP:0032641 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. PMID:26413275 https://orcid.org/0000-0003-2356-950X An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. 2020-02-09T08:43:20Z Renal interstitial necrotizing granulomata human_phenotype HP:0032642 Granulomatous inflammation is a distinctive form of chronic inflammation produced in response to various infectious, autoimmune, toxic, allergic, and neoplastic conditions. Renal interstitial necrotizing granulomas HP:0032642 An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. PMID:31723695 https://orcid.org/0000-0003-2356-950X Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. 2020-02-09T08:45:17Z Renal interstitial non-necrotizing granulomata human_phenotype HP:0032643 Renal interstitial non-necrotizing granulomas HP:0032643 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. https://orcid.org/0000-0003-2356-950X Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. 2020-02-09T08:58:17Z human_phenotype HP:0032644 Renal interstitial deposits HP:0032644 Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). 2020-02-09T09:21:49Z human_phenotype HP:0032645 Renal interstitial mononuclear cell infiltration HP:0032645 Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). https://orcid.org/0000-0003-2356-950X Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. 2020-02-09T09:26:16Z human_phenotype HP:0032646 Renal interstitial xanthogranulomatous inflammation HP:0032646 Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. PMID:21526966 Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells are rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. 2020-02-09T09:38:49Z human_phenotype HP:0032647 Renal tubular epithelial cell apoptosis HP:0032647 Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells are rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. PMID:29537990 https://orcid.org/0000-0003-2356-950X The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. 2020-02-09T09:42:05Z human_phenotype HP:0032648 Tubularization of Bowman capsule HP:0032648 The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. PMID:29537990 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus. 2020-02-15T08:56:45Z Skew foot Skew-foot human_phenotype HP:0032649 Operative indications include pain, intractable calluses, and shoe and orthotic problems. Skewfoot HP:0032649 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus. PMID:9916191 Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. 2020-02-15T09:06:05Z Elevated CSF glial fibrillary acidic protein level human_phenotype HP:0032650 Elevated CSF glial fibrillary acidic protein levels are considered to be a glial marker of neuroinflammation. Elevated CSF glial fibrillary acidic protein concentration HP:0032650 Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. PMID:31892365 Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. 2020-02-15T09:06:05Z Elevated CSF chitinase-3-like protein 1 level human_phenotype HP:0032651 Elevated CSF chitinase-3-like protein 1 concentration HP:0032651 Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. PMID:31892365 Increased concentration of chitotriosidase 1 in cerebrospinal fluid. 2020-02-15T09:06:05Z Elevated CSF chitotriosidase 1 level human_phenotype HP:0032652 Elevated CSF chitotriosidase 1 concentration HP:0032652 Increased concentration of chitotriosidase 1 in cerebrospinal fluid. PMID:31892365 An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. 2020-02-15T09:13:18Z human_phenotype HP:0032653 The lactate:pyruvate (L:P) ratio reflects the equilibrium between the product and substrate of the reaction catalyzed by lactase dehydrogenase and indirectly reflects the NADH:NAD+ cytoplasmic redox state. When cellular respiration or mitochondrial oxidative metabolism is impaired, such as in inborn errors of components of the mitochondrial respiratory chain, there is an increase in reducing equivalents (excess NADH and absence of NAD+) which results in an elevated L:P molar ratio. Elevated lactate:pyruvate ratio HP:0032653 An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. PMID:28088395 Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. 2020-02-16T11:50:52Z human_phenotype Endothelial dysfunction HP:0032654 The diameter of the target artery is measured by high-resolution external vascular ultrasound in response to an increase in blood flow (causing shear-stress) during reactive hyperaemia (induced by cuff inflation and then deflation). This leads to endothelium-dependent dilatation; the response is contrasted with that to sublingual nitroglycerin, an endothelium-independent dilator. The artery is scanned and the diameter measured during three conditions; at baseline, during reactive hyperaemia (induced by inflation and then deflation of a sphygmomanometer cuff around the limb, distal to the scanned part of the artery) and finally after administration of sublingual nitroglycerin using a normal antianginal dose of 400 microgram (which causes endothelium-independent smooth muscle mediated vasodilatation). Impaired flow-mediated arterial dilatation HP:0032654 Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. PMID:11069434 A reduced concentration of tocopherol in fat tissue. 2020-02-16T11:59:34Z human_phenotype HP:0032655 Tocopherols, the major forms of vitamin E, are a group of fat soluble phenolic compounds. About 90 percent of the total body content of tocopherol is found in adipose tissue. Therefore, vitamin E in adipose tissue (AT) has been proposed as a potential indicator of long-term intake of vitamin E. Decreased adipose tissue tocopherol level HP:0032655 A reduced concentration of tocopherol in fat tissue. PMID:27520363 A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. 2020-02-22T11:05:13Z Fever-induced status epilepticus human_phenotype HP:0032656 Some but not all cases of Febrile Infection-related Epilepsy Syndrome (FIRES) may meet this definition; however, in many cases of FIRES the individual will no longer be febrile at the time of the seizure onset. Febrile status epilepticus HP:0032656 A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. PMID:22742587 PMID:24502379 PMID:26336950 https://orcid.org/0000-0002-1735-8178 An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. 2020-02-16T12:46:25Z human_phenotype HP:0032657 Fabry disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A that affects males and shows disease expression in heterozygotes. Lysosomal accumulation of its substrate globotriaosylceramide (Gb3) that is prominent in endothelial cells is thought to cause the progressive renal insufficiency, cardiac involvement, and CNS pathology in Fabry patients. Plasma Lyso-Gb3 is considered to be a biomarker for Fabry disease. Elevated circulating lyso-globotriaosylsphingosine concentration HP:0032657 An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. PMID:29288396 PMID:30875019 Status epilepticus with prominent motor signs during the prolonged seizure. 2020-02-22T11:08:29Z human_phenotype HP:0032658 Status epilepticus with prominent motor symptoms HP:0032658 Status epilepticus with prominent motor signs during the prolonged seizure. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of status epilepticus without prominent motor symptoms and in the presence of coma. 2020-02-22T11:10:42Z Subtle status epilepticus human_phenotype HP:0032659 This includes the entity subtle status epilepticus proposed by some authors as the late, burned-out stage of generalized convulsive status epilepticus characterized by (subtle rather than predominant) focal or multifocal myoclonic movements, coma, and pseudoperiodic epileptiform discharges against a slow low-voltage background on EEG. Non-convulsive status epilepticus with coma HP:0032659 A type of status epilepticus without prominent motor symptoms and in the presence of coma. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. 2020-02-22T11:14:28Z Tonic-clonic status epilepticus human_phenotype HP:0032660 In 2015, the ILAE Task Force on Classification of Status Epilepticus did proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 5 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is 30 minutes for convulsive (tonic-clonic) status epilepticus.This 5-minute timeframe has been endorsed by the 2012 Neurocritical Care Society Guidelines and the 2016 American Epilepsy Society Guidelines to guide when emergent treatment for convulsive status epilepticus should start. This term includes convulsive status epilepticus of focal, generalized or unknown onset. Convulsive status epilepticus HP:0032660 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. PMID:22528274 PMID:26336950 PMID:26900382 PMID:9924914 https://orcid.org/0000-0002-1735-8178 A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. 2020-02-22T11:16:38Z Generalised convulsive status epilepticus human_phenotype HP:0032661 Generalized convulsive status epilepticus HP:0032661 A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. PMID:26336950 https://orcid.org/0000-0002-1735-8178 Generalised convulsive status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. 2020-02-22T11:20:18Z Focal onset seizure evolving into bilateral convulsive status epilepticus Focal-onset seizure evolving into generalised convulsive status epilepticus Focal-onset seizure evolving into generalized convulsive status epilepticus Partial onset seizure evolving into convulsive status epilepticus Partial-onset seizure evolving into convulsive status epilepticus Secondarily generalised convulsive status epilepticus Secondarily generalised tonic-clonic status epilepticus Secondarily generalized convulsive status epilepticus Secondarily generalized tonic-clonic status epilepticus human_phenotype HP:0032662 Focal-onset seizure evolving into bilateral convulsive status epilepticus HP:0032662 A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. PMID:26336950 Focal-onset seizure evolving into generalised convulsive status epilepticus Secondarily generalised convulsive status epilepticus Secondarily generalised tonic-clonic status epilepticus Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. 2020-02-22T11:23:31Z human_phenotype HP:0032663 Including aware and unaware focal motor status epilepticus, but note that hyperkinetic status epilepticus (of focal onset) is classified separately. Focal motor status epilepticus HP:0032663 Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. 2020-02-22T11:25:30Z human_phenotype HP:0032664 Adversive status epilepticus HP:0032664 A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. 2020-02-22T11:35:04Z Jacksonian status epilepticus human_phenotype HP:0032665 Repeated focal motor seizures HP:0032665 A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. PMID:21070217 PMID:26336950 https://orcid.org/0000-0002-1735-8178 Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. 2020-02-22T11:39:08Z human_phenotype HP:0032666 In 2015 the ILAE classified hyperkinetic status epilepticus separately from focal motor status epilepticus characterized by elemental motor features. Awareness may be intact or impaired. Hyperkinetic status epilepticus HP:0032666 Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. 2020-02-22T11:45:01Z human_phenotype HP:0032667 The myoclonic seizures are usually generalized. The duration or frequency of myoclonic jerks required to qualify as myoclonic status is not defined, but they should occur frequently and long enough to significantly impair functioning. A reasonable general definition might be that myoclonus must occur either (1) at least once every 10 seconds for longer than 10 minutes or (2) at least once a minute for longer than 30 minutes. Myoclonic status epilepticus HP:0032667 A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of myoclonic status epilepticus in the absence of coma. 2020-02-22T11:45:01Z human_phenotype HP:0032668 Myoclonic status epilepticus without coma HP:0032668 A type of myoclonic status epilepticus in the absence of coma. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of myoclonic status epilepticus in the presence of coma. 2020-02-22T11:45:01Z human_phenotype HP:0032669 Myoclonic status epilepticus with coma HP:0032669 A type of myoclonic status epilepticus in the presence of coma. PMID:26336950 https://orcid.org/0000-0002-1735-8178 Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. 2020-02-22T11:47:05Z human_phenotype HP:0032670 This has most commonly been reported in children with neurocognitive impairment and severe epilepsy, such as Ohtahara syndrome or West syndrome and Lennox-Gastaut syndrome. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. Tonic status epilepticus HP:0032670 Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A type of status epilepticus without prominent motor symptoms in the absence of coma. 2020-02-22T12:09:58Z human_phenotype HP:0032671 Non-convulsive status epilepticus without coma HP:0032671 A type of status epilepticus without prominent motor symptoms in the absence of coma. PMID:26336950 https://orcid.org/0000-0002-1735-8178 Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. 2020-02-22T12:19:28Z human_phenotype HP:0032672 Autonomic disturbances may include tachycardia, cardiac arrhythmia, hypertension, high fever, salivation, vomiting and incontinence. Autonomic status epilepticus HP:0032672 Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. PMID:26336950 https://orcid.org/0000-0002-1735-8178 Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. 2020-02-22T12:19:28Z human_phenotype HP:0032673 Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. Consciousness or awareness may be intact or impaired. Focal non-convulsive status epilepticus without coma HP:0032673 Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. PMID:26336950 https://orcid.org/0000-0002-1735-8178 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. 2020-02-23T09:13:36Z Skin wound human_phenotype HP:0032674 Cutaneous wound HP:0032674 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time. PMID:10471461 Skin wound A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. 2020-02-23T09:13:36Z human_phenotype HP:0032675 Wound healing accors in multiple overlapping stages, with re=-eipthelialization normally beginning on day one or two. In most clinical settings, closure of acute and chronic wounds is considered the wound healing end point, but wounds can continue to undergo remodeling or tissue maturation for several months or even years. Acute cutaneous wound HP:0032675 A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. PMID:30475656 A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. 2020-02-23T09:13:36Z Chronic nonhealing cutaneous wound human_phenotype HP:0032676 Chronic cutaneous wound HP:0032676 A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. PMID:8166487 A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. 2020-03-14T07:11:14Z Generalised onset motor seizure Generalised-onset motor seizure Generalized onset motor seizure human_phenotype HP:0032677 Generalized-onset motor seizure HP:0032677 A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. PMID:11580774 PMID:28276060 PMID:28276064 An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. 2020-03-14T07:17:13Z human_phenotype HP:0032678 Eyelid myoclonia seizure HP:0032678 An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. PMID:19469840 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. 2020-03-14T07:50:45Z Focal seizure without motor onset Partial seizure without motor onset human_phenotype HP:0032679 Non-motor terms correspond to the earliest prominent sign or symptom. Focal non-motor seizure HP:0032679 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. PMID:28276060 PMID:28276064 A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. 2020-03-14T08:19:57Z HP:0011162 Cognitive aura Cognitive seizure Partial cognitive seizure human_phenotype HP:0032680 In order to characterize focal cognitive seizures, specific testing may be required early during the seizure. Focal cognitive seizure HP:0032680 A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure. PMID:28276060 PMID:28276064 A focal aware cognitive seizure during which awareness is retained throughout the seizure. 2020-03-14T08:24:44Z HP:0032683 HP:0032881 human_phenotype HP:0032681 Focal aware cognitive seizure HP:0032681 A focal aware cognitive seizure during which awareness is retained throughout the seizure. PMID:28276060 PMID:28276064 A focal non-motor seizure in which awareness is retained throughout the seizure. 2020-03-14T08:24:44Z Focal non-motor aware seizure human_phenotype HP:0032682 Focal aware non-motor seizure HP:0032682 A focal non-motor seizure in which awareness is retained throughout the seizure. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 HP:0032681 2020-03-14T08:27:22Z human_phenotype HP:0032683 obsolete Focal aware cognitive seizure with impaired attention true HP:0032683 A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. 2020-03-14T08:34:10Z human_phenotype HP:0032684 Focal aware cognitive seizure with auditory agnosia HP:0032684 A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. 2020-03-14T08:34:10Z human_phenotype HP:0032685 Auditory agnosia is the inability to recognize or differentiate between sounds / words or to relate them to their meaning despite being able to hear them. Focal cognitive seizure with auditory agnosia HP:0032685 A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. PMID:28276060 A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. 2020-03-14T08:34:10Z human_phenotype HP:0032686 Focal aware cognitive seizure with memory impairment HP:0032686 A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). 2020-03-14T08:36:57Z Amnestic aura Amnestic seizure human_phenotype HP:0032687 www.epilepsydiagnosis.org focuses on anterograde amnesia during the seizure. Both ictal retrograde and anterograde amnesia have been included here given that they are well studied as ictal manifestations of 'transient epileptic amnesia'. The clinical onset of these seizures is defined by questions indicating ictal retrograde amnesia, often because of disorientation. Ictal anterograde amnesia is incomplete in many individuals with transient epileptic amnesia: half at least partly recall 'not being able to remember' during seizures. Focal cognitive seizure with memory impairment HP:0032687 A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). PMID:17444534 A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. 2020-03-14T09:09:31Z human_phenotype HP:0032688 Focal aware cognitive seizure with dissociation HP:0032688 A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. 2020-03-14T09:09:31Z human_phenotype HP:0032689 Focal cognitive seizure with dissociation HP:0032689 A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. 2020-03-14T09:12:05Z human_phenotype HP:0032690 Focal aware cognitive seizure with dyscalculia/acalculia HP:0032690 A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. 2020-03-14T09:14:38Z human_phenotype HP:0032691 Dyscalculia / acalculia is difficulty completing or understanding mathematical calculation. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. Focal cognitive seizure with dyscalculia/acalculia HP:0032691 A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. 2020-03-14T09:16:08Z human_phenotype HP:0032692 Forced thinking is the presence of intrusive thoughts, ideas or crowding of thoughts. This is a rare seizure type, seen in mesial parietal, posterior parahippocampal and frontal lobe seizures. Focal cognitive seizure with forced thinking HP:0032692 A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by neglect as the initial semiological manifestation. 2020-03-14T09:17:39Z human_phenotype HP:0032693 Neglect is unilateral failure to report or respond to stimuli presented contralaterally. Focal cognitive seizure with neglect HP:0032693 A focal cognitive seizure characterized by neglect as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. 2020-03-14T09:22:03Z human_phenotype HP:0032694 Dyslexia / alexia is the inability to read due to an impairment in understanding written words rather than visual impairment. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. Focal cognitive seizure with dyslexia/alexia HP:0032694 A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. PMID:28276060 HP:0012008 2020-03-14T09:31:44Z human_phenotype HP:0032695 obsolete Illusory auras true HP:0032695 A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. 2020-03-14T09:33:16Z human_phenotype HP:0032696 This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. Focal cognitive seizure with receptive dysphasia/aphasia HP:0032696 A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. HP:0012004 2020-03-14T09:34:30Z human_phenotype HP:0032697 obsolete Focal cognitive seizure with deja vu/jamais vu true HP:0032697 A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. 2020-03-14T09:35:50Z human_phenotype HP:0032698 Conduction dysphasia / aphasia is the inability to repeat speech that is heard, due to failure to encode phonological information, in the setting of intact auditory comprehension (full understanding of what is heard), and fluent speech production (subject to paraphrasic errors). Focal cognitive seizure with conduction dysphasia/aphasia HP:0032698 A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. 2020-03-14T09:37:17Z human_phenotype HP:0032699 Dysgraphia / agraphia is difficulty in writing. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. Focal cognitive seizure with dysgraphia/agraphia HP:0032699 A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. 2020-03-14T09:39:16Z human_phenotype HP:0032700 Left-right confusion is the inability to distinguish right from left. This seizure type is seen in seizures involving the dominant hemisphere parieto-temporal lobe region. Focal cognitive seizure with left-right confusion HP:0032700 A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by anomia as the initial semiological manifestation. 2020-03-14T09:40:45Z human_phenotype HP:0032701 Anomia is the inability to name objects despite knowing what they are. Focal cognitive seizure with anomia HP:0032701 A focal cognitive seizure characterized by anomia as the initial semiological manifestation. PMID:28276060 A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. 2020-03-14T09:43:58Z human_phenotype HP:0032702 Expressive dysphasia / aphasia is the inability to express one's thoughts despite being aware of what they wished to say because of a disorder of language rather than articulation. Focal cognitive seizure with expressive dysphasia/aphasia HP:0032702 A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. PMID:28276060 HP:0012007 2020-03-14T09:45:56Z human_phenotype HP:0032703 obsolete Hallucinatory aura true HP:0032703 A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. 2020-03-14T09:47:50Z human_phenotype HP:0032704 Focal aware cognitive seizure with illusion HP:0032704 A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. 2020-03-14T09:48:56Z human_phenotype HP:0032705 Focal aware cognitive seizure with forced thinking HP:0032705 A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. 2020-03-14T09:50:10Z human_phenotype HP:0032706 Focal aware cognitive seizure with left-right confusion HP:0032706 A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. 2020-03-14T09:51:28Z human_phenotype HP:0032707 Focal aware cognitive seizure with dyslexia/alexia HP:0032707 A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. 2020-03-14T09:53:02Z human_phenotype HP:0032708 Focal aware cognitive seizure with anomia HP:0032708 A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. 2020-03-14T09:54:16Z human_phenotype HP:0032709 Focal aware cognitive seizure with dysgraphia/agraphia HP:0032709 A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. 2020-03-14T09:55:58Z human_phenotype HP:0032710 Focal aware cognitive seizure with receptive dysphasia/aphasia HP:0032710 A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. PMID:28276060 A type of focal clonic seizure during which awareness is fully retained throughout. 2020-03-14T10:02:18Z human_phenotype HP:0032711 Focal aware clonic seizure HP:0032711 A type of focal clonic seizure during which awareness is fully retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T07:12:34Z Focal motor impaired awareness seizure human_phenotype HP:0032712 Focal impaired awareness motor seizure HP:0032712 A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal motor seizure with version characterized by impaired awareness at some point during the seizure. 2020-03-15T07:16:59Z Focal motor impaired awareness seizure with version human_phenotype HP:0032713 Version id defined as sustained, forced, involuntary turning of the eyes or head. Focal impaired awareness motor seizure with version HP:0032713 A focal motor seizure with version characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. 2020-03-15T07:21:57Z human_phenotype HP:0032714 Focal impaired awareness bilateral motor seizure HP:0032714 A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. PMID:28276060 A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. 2020-03-15T07:21:57Z human_phenotype HP:0032715 Not to be confused with a focal to bilateral tonic-clonic seizure (to which it may progress). Certain frontal lobe seizure sub-types have bilateral motor features at onset, often with asymmetric posturing. Typically, there is extension of the upper limb (at the elbow) contralateral to the hemisphere of seizure onset (often with a clenched fist and flexion at the wrist) and flexion of the ipsilateral upper limb at the elbow. This type of seizure is also described as a 'fencer's posture' or a 'figure of 4'. Focal bilateral motor seizure HP:0032715 A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. PMID:28276060 A focal non-motor seizure characterized by impaired awareness at some point during the seizure. 2020-03-15T07:24:43Z Focal non-motor impaired awareness seizure human_phenotype HP:0032716 Focal impaired awareness non-motor seizure HP:0032716 A focal non-motor seizure characterized by impaired awareness at some point during the seizure. PMID:28276060 PMID:28276064 A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. 2020-03-15T07:26:09Z Focal motor impaired awareness seizure with dystonia human_phenotype HP:0032717 Focal impaired awareness motor seizure with dystonia HP:0032717 A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. 2020-03-15T07:28:12Z human_phenotype HP:0032718 The abnormal movements of dystonia resulting from co-contraction of agonist and antagonist muscles differentiates these from tonic seizures, see focal tonic seizure. Focal motor seizure with dystonia HP:0032718 A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. PMID:28276060 A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. 2020-03-15T07:29:45Z Focal motor impaired awareness seizure with dysarthria/anarthria human_phenotype HP:0032719 Focal impaired awareness motor seizure with dysarthria/anarthria HP:0032719 A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. PMID:28276060 A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. 2020-03-15T07:31:45Z human_phenotype HP:0032720 Focal motor seizure with dysarthria/anarthria HP:0032720 A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. PMID:28276060 A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. 2020-03-15T07:35:42Z human_phenotype HP:0032721 Focal motor seizure with paresis/paralysis HP:0032721 A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. PMID:28276060 A type of focal tonic seizure during which awareness is fully retained throughout. 2020-03-15T07:42:50Z human_phenotype HP:0032722 Focal aware tonic seizure HP:0032722 A type of focal tonic seizure during which awareness is fully retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. 2020-03-15T07:45:30Z Focal motor aware seizure with dystonia human_phenotype HP:0032723 Focal aware motor seizure with dystonia HP:0032723 A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. PMID:28276060 A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T07:47:56Z human_phenotype HP:0032724 Focal impaired awareness tonic seizure HP:0032724 A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. 2020-03-15T07:56:04Z human_phenotype HP:0032725 Focal impaired awareness clonic seizure HP:0032725 A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. PMID:11580774 PMID:28276060 PMID:28276064 A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T08:10:29Z human_phenotype HP:0032726 Focal impaired awareness hyperkinetic seizure HP:0032726 A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. 2020-03-15T09:28:30Z human_phenotype HP:0032727 These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. Focal emotional seizure with agitation HP:0032727 Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. PMID:28276060 A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T08:13:15Z human_phenotype HP:0032728 Focal impaired awareness atonic seizure HP:0032728 A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:11580774 PMID:28276060 PMID:28276064 Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. 2020-03-15T08:23:49Z human_phenotype HP:0032729 This is a rare seizure type, seen in seizures arising in the anterior insular cortex. Focal emotional seizure with pleasure HP:0032729 Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. PMID:28276060 PMID:28276064 A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T08:54:06Z human_phenotype HP:0032730 Focal impaired awareness myoclonic seizure HP:0032730 A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal hypermotor seizure during which awareness is fully retained throughout. 2020-03-15T08:56:22Z human_phenotype HP:0032731 Focal aware hyperkinetic seizure HP:0032731 A type of focal hypermotor seizure during which awareness is fully retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. 2020-03-15T08:58:16Z Focal motor aware seizure with paresis/paralysis human_phenotype HP:0032732 Focal aware motor seizure with paresis/paralysis HP:0032732 A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. PMID:28276060 A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. 2020-03-15T09:01:43Z Focal motor aware seizure with dysarthria/anarthria human_phenotype HP:0032733 Focal aware motor seizure with dysarthria/anarthria HP:0032733 A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. PMID:28276060 A focal emotional seizure during which awareness is retained throughout the seizure. 2020-03-15T09:11:10Z human_phenotype HP:0032734 Focal aware emotional seizure HP:0032734 A focal emotional seizure during which awareness is retained throughout the seizure. PMID:28276060 PMID:28276064 Focal emotional seizure with anger in which awareness is retained throughout. 2020-03-15T09:13:00Z human_phenotype HP:0032735 Focal aware emotional seizure with anger HP:0032735 Focal emotional seizure with anger in which awareness is retained throughout. PMID:28276060 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. 2020-03-15T09:15:05Z human_phenotype HP:0032736 This seizure type localizes to prefrontal or mesial temporal regions of the brain. Focal emotional seizure with anger HP:0032736 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior. PMID:28276060 PMID:28276064 Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. 2020-03-15T09:17:00Z human_phenotype HP:0032737 Focal emotional seizure with paranoia HP:0032737 Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. PMID:28276060 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. 2020-03-15T09:51:49Z human_phenotype HP:0032738 Focal aware emotional seizure with fear/anxiety/panic HP:0032738 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. PMID:28276060 PMID:28276064 Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. 2020-03-15T09:35:09Z human_phenotype HP:0032739 These seizures arise in mesial temporal networks, especially the amygdala. They can be distinguished from panic attacks, by the presence of impaired awareness, automatisms and other features of an epileptic seizure appearing in a stereotyped manner. They are also distinguished from a focal autonomic seizure with epigastric sensation, where the onset seizure feature is an autonomic epigastric sensation, and fear may be present as a secondary feature. Focal emotional seizure with fear/anxiety/panic HP:0032739 Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. PMID:28276060 PMID:28276064 A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. 2020-03-15T09:42:57Z HP:0011156 Focal autonomic seizures without altered responsiveness Localised autonomic seizures without altered responsiveness Localized autonomic seizures without altered responsiveness Partial autonomic seizures without altered responsiveness human_phenotype HP:0032740 Focal aware autonomic seizure HP:0032740 A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 Localised autonomic seizures without altered responsiveness Focal emotional seizure with paranoia in which awareness is retained throughout. 2020-03-15T09:46:19Z human_phenotype HP:0032741 Focal aware emotional seizure with paranoia HP:0032741 Focal emotional seizure with paranoia in which awareness is retained throughout. PMID:28276060 PMID:28276064 Focal emotional seizure with pleasure in which awareness is retained throughout. 2020-03-15T09:47:39Z human_phenotype HP:0032742 Focal aware emotional seizure with pleasure HP:0032742 Focal emotional seizure with pleasure in which awareness is retained throughout. PMID:28276060 Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. 2020-03-15T09:49:07Z human_phenotype HP:0032743 Focal aware emotional seizure with crying HP:0032743 Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. PMID:28276060 Focal emotional seizure with agitation in which awareness is retained throughout. 2020-03-15T09:53:09Z human_phenotype HP:0032744 Focal aware emotional seizure with agitation HP:0032744 Focal emotional seizure with agitation in which awareness is retained throughout. PMID:28276060 Focal emotional seizure with laughing in which awareness is retained throughout. 2020-03-15T09:54:24Z human_phenotype HP:0032745 Focal aware emotional seizure with laughing HP:0032745 Focal emotional seizure with laughing in which awareness is retained throughout. PMID:28276060 A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T09:56:50Z human_phenotype HP:0032746 Focal impaired awareness emotional seizure HP:0032746 A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 PMID:28276064 Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T09:58:47Z human_phenotype HP:0032747 Focal impaired awareness emotional seizure with pleasure HP:0032747 Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 PMID:28276064 Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:00:25Z human_phenotype HP:0032748 Focal impaired awareness emotional seizure with anger HP:0032748 Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:01:45Z human_phenotype HP:0032749 Focal impaired awareness emotional seizure with paranoia HP:0032749 Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:04:30Z human_phenotype HP:0032750 Focal impaired awareness emotional seizure with laughing HP:0032750 Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:05:39Z human_phenotype HP:0032751 Focal impaired awareness emotional seizure with crying HP:0032751 Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:06:56Z human_phenotype HP:0032752 Focal impaired awareness emotional seizure with fear/anxiety/panic HP:0032752 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 PMID:28276064 A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:08:21Z human_phenotype HP:0032753 Focal impaired awareness emotional seizure with agitation HP:0032753 A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal sensory seizure during which awareness is retained throughout the seizure. 2020-03-15T10:10:54Z human_phenotype HP:0032754 Focal aware sensory seizure HP:0032754 A focal sensory seizure during which awareness is retained throughout the seizure. PMID:28276060 PMID:28276064 A focal autonomic seizure characterized by impaired awareness at some point within the seizure. 2020-03-15T10:14:45Z HP:0011155 Focal autonomic seizure with altered responsiveness Localised autonomic seizure with altered responsiveness Localized autonomic seizure with altered responsiveness Partial autonomic seizure with altered responsiveness human_phenotype HP:0032755 Focal impaired awareness autonomic seizure HP:0032755 A focal autonomic seizure characterized by impaired awareness at some point within the seizure. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 Localised autonomic seizure with altered responsiveness A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-15T10:17:18Z HP:0032875 HP:0032931 human_phenotype HP:0032756 Focal impaired awareness cognitive seizure HP:0032756 A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 PMID:28276064 A focal hemiclonic seizure in which awareness is retained throughout. 2020-03-15T10:22:58Z human_phenotype HP:0032757 Focal aware hemiclonic seizure HP:0032757 A focal hemiclonic seizure in which awareness is retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal myoclonic seizure during which awareness is fully retained throughout. 2020-03-15T10:39:35Z human_phenotype HP:0032758 A single or short cluster of brief muscle contractions (jerks), each jerk is typically milliseconds in duration. Focal aware myoclonic seizure HP:0032758 A type of focal myoclonic seizure during which awareness is fully retained throughout. PMID:11580774 PMID:28276060 PMID:28276064 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. 2020-03-15T10:55:32Z Focal vestibular seizure Partial vestibular seizure Vestibular aura human_phenotype HP:0032759 These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. Focal sensory seizure with vestibular features HP:0032759 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. PMID:28276060 A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. 2020-03-15T10:59:32Z human_phenotype HP:0032760 Focal sensory seizure with hot-cold sensations HP:0032760 A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. PMID:28276060 A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. 2020-03-16T07:53:50Z human_phenotype HP:0032761 Focal aware autonomic seizure with pallor/flushing HP:0032761 A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. PMID:28276060 A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. 2020-03-16T07:53:50Z human_phenotype HP:0032762 Focal autonomic seizure with pallor/flushing HP:0032762 A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. PMID:28276060 A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. 2020-03-16T07:54:53Z human_phenotype HP:0032763 Focal autonomic seizure with pupillary dilation/constriction HP:0032763 A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. PMID:28276060 A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. 2020-03-16T07:55:56Z human_phenotype HP:0032764 Focal autonomic seizure with erection HP:0032764 A type of focal autonomic seizure characterized by penile erection as the initial semiological feature. PMID:28276060 A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. 2020-03-16T07:56:55Z human_phenotype HP:0032765 Focal autonomic seizure with urge to urinate/defecate HP:0032765 A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. PMID:28276060 A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. 2020-03-16T07:57:55Z human_phenotype HP:0032766 Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032766 A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. PMID:28276060 A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. 2020-03-16T07:59:39Z human_phenotype HP:0032767 Focal autonomic seizure with piloerection HP:0032767 A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. 2020-03-16T08:01:47Z human_phenotype HP:0032768 Focal aware autonomic seizure with pupillary dilation/constriction HP:0032768 A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. PMID:28276060 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. 2020-03-16T08:02:45Z human_phenotype HP:0032769 Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032769 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. PMID:28276060 A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. 2020-03-16T08:04:01Z human_phenotype HP:0032770 Focal aware autonomic seizure with erection HP:0032770 A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. PMID:28276060 A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. 2020-03-16T08:05:06Z human_phenotype HP:0032771 Focal autonomic seizure with lacrimation HP:0032771 A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. PMID:28276060 A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. 2020-03-16T08:06:29Z human_phenotype HP:0032772 Focal impaired awareness autonomic seizure with piloerection HP:0032772 A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. PMID:28276060 A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. 2020-03-16T08:08:09Z human_phenotype HP:0032773 Includes seizure characterized predominantly by chronotropic features such as bradycardia, tachycardia and asystole as the initial semiological feature. Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032773 A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. PMID:28276060 A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. 2020-03-16T08:11:16Z human_phenotype HP:0032774 Focal impaired awareness autonomic seizure with urge to urinate/defecate HP:0032774 A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. PMID:28276060 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. 2020-03-16T08:11:16Z human_phenotype HP:0032775 Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032775 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. PMID:28276060 2020-03-16T10:17:08Z human_phenotype HP:0032776 A focal autonomic seizure with lacrimation characterized by retained awareness throughout the seizure. Focal aware autonomic seizure with lacrimation HP:0032776 A focal autonomic seizure with lacrimation characterized by retained awareness throughout the seizure. PMID:28276060 A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. 2020-03-16T08:27:08Z human_phenotype HP:0032777 Focal impaired awareness autonomic seizure with pallor/flushing HP:0032777 A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. 2020-03-16T08:31:32Z human_phenotype HP:0032778 Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0032778 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. 2020-03-16T10:18:44Z human_phenotype HP:0032779 Focal impaired awareness autonomic seizure with pupillary dilation/constriction HP:0032779 A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. 2020-03-16T10:19:50Z human_phenotype HP:0032780 Focal impaired awareness autonomic seizure with erection HP:0032780 A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. 2020-03-16T10:20:54Z human_phenotype HP:0032781 Focal aware autonomic seizure with urge to urinate/defecate HP:0032781 A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. PMID:28276060 A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. 2020-03-16T10:21:57Z human_phenotype HP:0032782 Focal impaired awareness autonomic seizure with lacrimation HP:0032782 A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. 2020-03-16T10:23:18Z human_phenotype HP:0032783 Focal aware autonomic seizure with piloerection HP:0032783 A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. PMID:28276060 An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. 2020-03-16T10:24:22Z human_phenotype HP:0032784 Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032784 An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. PMID:28276060 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. 2020-03-16T10:25:53Z human_phenotype HP:0032785 Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0032785 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. PMID:28276060 A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. 2020-03-16T10:27:50Z Migrating partial seizure human_phenotype HP:0032786 Migrating focal seizures are one of the pathognomonic features of Epilepsy of infancy with Migrating Focal Seizures (also known as Migrating Partial Seizures of Infancy, MPSI), which is an epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. EEG correlate shows migrating ictal foci, shifting areas of ictal onset between hemispheres. Migrating focal seizure HP:0032786 A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. PMID:21788614 PMID:23599387 A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. 2020-03-16T10:31:27Z human_phenotype HP:0032787 Focal impaired awareness sensory seizure HP:0032787 A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. 2020-03-16T10:32:50Z human_phenotype HP:0032788 Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032788 A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. PMID:28276060 A focal behavior arrest seizure characterized by retained awareness throughout the seizure. 2020-03-16T10:35:13Z Focal aware behaviour arrest seizure human_phenotype HP:0032789 Focal aware behavior arrest seizure HP:0032789 A focal behavior arrest seizure characterized by retained awareness throughout the seizure. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 Focal aware behaviour arrest seizure A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. 2020-03-16T10:37:14Z Focal impaired awareness behaviour arrest seizure human_phenotype HP:0032790 Focal impaired awareness behavior arrest seizure HP:0032790 A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure. PMID:20196795 PMID:23739099 PMID:28276060 PMID:28276064 Focal impaired awareness behaviour arrest seizure A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. 2020-03-16T10:47:24Z human_phenotype HP:0032791 Focal impaired awareness cognitive seizure with anomia HP:0032791 A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. 2020-03-16T13:22:09Z human_phenotype HP:0032792 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. Tonic seizure HP:0032792 A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. PMID:11580774 A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. 2020-03-16T10:49:57Z human_phenotype HP:0032793 Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia HP:0032793 A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. 2020-03-16T13:28:08Z human_phenotype HP:0032794 This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding myoclonic seizures when the onset is not known. Myoclonic seizure HP:0032794 A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. PMID:11580774 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. 2020-03-16T13:34:52Z Generalised myoclonic-tonic-clonic seizure Generalised-onset myoclonic-tonic-clonic seizure Generalized-onset myoclonic-tonic-clonic seizure generalised onset myoclonic-tonic-clonic seizure generalized onset myoclonic-tonic-clonic seizure human_phenotype HP:0032795 Generalized myoclonic-tonic-clonic seizure HP:0032795 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. PMID:28276060 PMID:28276064 generalised onset myoclonic-tonic-clonic seizure A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. 2020-03-16T16:07:58Z human_phenotype HP:0032796 Focal impaired awareness cognitive seizure with left-right confusion HP:0032796 A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. PMID:28276060 Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. 2020-03-16T13:54:25Z human_phenotype HP:0032797 These seizures involve the mesial temporal or orbitofrontal regions. Focal aware sensory seizure with olfactory features HP:0032797 Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. PMID:28276060 A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. 2020-03-16T13:54:25Z human_phenotype HP:0032798 Focal impaired awareness cognitive seizure with neglect HP:0032798 A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. 2020-03-16T13:58:23Z human_phenotype HP:0032799 Focal impaired awareness hemiclonic seizure HP:0032799 A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. PMID:28276060 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. 2020-03-16T14:00:42Z human_phenotype HP:0032800 These seizures involve the parietal cortex, temporo-parieto-occipital junction or parieto-temporal cortex. Focal aware sensory seizure with vestibular features HP:0032800 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. PMID:28276060 A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. 2020-03-16T14:02:13Z human_phenotype HP:0032801 Focal impaired awareness cognitive seizure with memory impairment HP:0032801 A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. 2020-03-16T14:03:22Z human_phenotype HP:0032802 Focal impaired awareness cognitive seizure with dyscalculia/acalculia HP:0032802 A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. 2020-03-16T14:04:52Z human_phenotype HP:0032803 Focal impaired awareness cognitive seizure with dysgraphia/agraphia HP:0032803 A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. 2020-03-16T14:09:06Z human_phenotype HP:0032804 Focal impaired awareness sensory seizure with olfactory features HP:0032804 A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. 2020-03-16T14:10:06Z human_phenotype HP:0032805 Focal impaired awareness sensory seizure with vestibular features HP:0032805 A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. 2020-03-16T14:15:19Z human_phenotype HP:0032806 Focal impaired awareness sensory seizure with visual features HP:0032806 A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A seizure occurring within the neonatal period (28 days beyond the full term date). 2020-03-17T06:23:05Z human_phenotype HP:0032807 This term encompasses clinical only (motor or non-motor without electrographic confirmation), electro-clinical and electrographic only seizures. Where the seizure also meets the definition of status epilepticus it should be coded twice. Neonatal seizure HP:0032807 A seizure occurring within the neonatal period (28 days beyond the full term date). PMID:28276060 PMID:33522601 Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. 2020-03-17T06:25:15Z human_phenotype HP:0032808 Neonatal seizures need to be considered as a special category because of biological peculiarities, such as the immaturity of the neonatal central nervous system. Therefore, seizures are defined first as an electrographic event, that can be associated or not with clinical manifestations. Seizure types are further classified following ILAE 2017 seizure classification, however awareness is not assessable in neonates. The distinction motor vs. non motor seizure is kept, but here it reflects the predominant clinical manifestation, rather than the onset of the seizure as in adult classification. Neonatal seizure with electrographic correlate HP:0032808 Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. PMID:28276060 Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. 2020-03-17T06:26:53Z human_phenotype HP:0032809 The predominant clinical feature defines the neonatal electro-clinical seizure sub-types; unlike in adults, where the semiology at onset defines the seizure type. Neonatal electro-clinical seizure HP:0032809 Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. PMID:28276060 A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. 2020-03-16T15:35:53Z Cephalic aura Focal seizure with cephalic sensation Partial seizure with cephalic sensation human_phenotype HP:0032810 Focal sensory seizure with cephalic sensation HP:0032810 A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. PMID:28276060 Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. 2020-03-17T06:28:15Z human_phenotype HP:0032811 The duration of the seizures has to be sufficient to demonstrate evolution in frequency and morphology of the discharges on electroencephalography, which will depend on the frequency of the discharge. The duration is arbitrary but needs to be sufficient to allow recognition of onset, evolution and resolution of an abnormal discharge. This type of seizure is particular to the neonatal period; beyond this electrographic appearance of a seizure must be associated with a clinical correlate to be classed as a seizure. Neonatal electrographic only seizure HP:0032811 Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation. PMID:28276060 2020-03-17T06:31:30Z human_phenotype HP:0032812 Neonatal electro-clinical non-motor seizure HP:0032812 Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. 2020-03-17T06:31:30Z human_phenotype HP:0032813 Neonatal motor seizures may be further sub-classified as seizures occurring with presentations such as: automatisms, clonic, epileptic spams, myoclonic, sequential, tonic. Neonatal electro-clinical motor seizure HP:0032813 Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features. PMID:28276060 Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. 2020-03-17T06:32:55Z Neonatal electroclinical clonic seizure human_phenotype HP:0032814 Neonatal electro-clinical clonic seizure HP:0032814 Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric. PMID:28276064 Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). 2020-03-17T06:34:40Z Neonatal electroclinical myoclonic seizure human_phenotype HP:0032815 Clinically difficult to differentiate from non-epileptic myoclonus. Neonatal electro-clinical myoclonic seizure HP:0032815 Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). PMID:28276064 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites. 2020-03-17T06:35:42Z human_phenotype HP:0032816 Neonatal multifocal myoclonic seizure HP:0032816 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites. PMID:28276064 Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. 2020-03-17T06:38:13Z human_phenotype HP:0032817 Neonatal focal myoclonic seizure HP:0032817 Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. PMID:28276064 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. 2020-03-17T06:38:13Z human_phenotype HP:0032818 Neonatal focal clonic seizure HP:0032818 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups. PMID:28276064 Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. 2020-03-17T06:39:19Z human_phenotype HP:0032819 Neonatal bilateral clonic seizure HP:0032819 Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral. PMID:28276064 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. 2020-03-17T06:41:21Z human_phenotype HP:0032820 Neonatal multifocal clonic seizure HP:0032820 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. PMID:28276064 Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. 2020-03-17T06:43:18Z human_phenotype HP:0032821 Usually focal, unilateral or bilateral asymmetric. Generalized tonic posturing is often not of epileptic origin. Neonatal electro-clinical tonic seizure HP:0032821 Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes. PMID:28276064 Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. 2020-03-17T06:44:45Z human_phenotype HP:0032822 May involve respiration (apnea). Typically seen with other seizure manifestations. EEG confirmation is mandatory. Neonatal electro-clinical autonomic seizure HP:0032822 Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea. PMID:28276064 Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. 2020-03-17T06:46:30Z Neonatal electro-clinical seizure with behaviour arrest Neonatal electroclinical seizure with behavioral arrest Neonatal electroclinical seizure with behavioural arrest human_phenotype HP:0032823 May be focal and/or followed by apnea, other autonomic manifestations and motor seizures. Neonatal electro-clinical seizure with behavior arrest HP:0032823 Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. PMID:28276064 Neonatal electro-clinical seizure with behaviour arrest Neonatal electroclinical seizure with behavioural arrest Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. 2020-03-17T06:56:40Z human_phenotype HP:0032824 Neonatal focal tonic seizure HP:0032824 Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes. PMID:28276064 Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. 2020-03-17T06:58:25Z Neonatal electroclinical sequential seizure human_phenotype HP:0032825 No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Neonatal electro-clinical sequential seizure HP:0032825 Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. PMID:28276064 Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. 2020-03-17T07:00:04Z human_phenotype HP:0032826 No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Focal neonatal sequential seizure HP:0032826 Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures. PMID:28276064 Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. 2020-03-17T07:01:42Z human_phenotype HP:0032827 No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Multifocal neonatal sequential seizure HP:0032827 Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs. PMID:28276064 Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. 2020-03-17T07:03:14Z human_phenotype HP:0032828 Neonatal bilateral symmetric tonic seizure HP:0032828 Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically. PMID:28276064 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features. 2020-03-17T07:05:22Z Neonatal electroclinical motor seizure with automatism human_phenotype HP:0032829 Normal and abnormal behavior in term and preterm infants may mimic ictal automatisms. Neonatal electro-clinical motor seizure with automatism HP:0032829 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features. PMID:28276060 PMID:28276064 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. 2020-03-17T07:06:39Z human_phenotype HP:0032830 Neonatal seizure with bilateral asymmetric automatism HP:0032830 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically. PMID:28276060 PMID:28276064 Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. 2020-03-17T07:07:49Z human_phenotype HP:0032831 Neonatal bilateral asymmetric tonic seizure HP:0032831 Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically. PMID:28276064 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically. 2020-03-17T07:08:56Z human_phenotype HP:0032832 Neonatal bilateral asymmetric myoclonic seizure HP:0032832 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically. PMID:28276064 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. 2020-03-17T07:10:40Z human_phenotype HP:0032833 May be difficult to differentiate from myoclonic seizures without electromyography. Neonatal epileptic spasm HP:0032833 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters. PMID:28276060 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body. 2020-03-17T07:11:49Z human_phenotype HP:0032834 Neonatal seizure with unilateral automatism HP:0032834 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body. PMID:28276060 PMID:28276064 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically. 2020-03-17T07:12:52Z human_phenotype HP:0032835 Neonatal seizure with bilateral symmetric automatism HP:0032835 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically. PMID:28276060 PMID:28276064 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically. 2020-03-17T07:15:35Z human_phenotype HP:0032836 Neonatal bilateral symmetric myoclonic seizure HP:0032836 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically. PMID:28276064 Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. 2020-03-17T07:17:29Z human_phenotype HP:0032837 No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Bilateral asymmetric neonatal sequential seizure HP:0032837 Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures. PMID:28276064 Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. 2020-03-17T07:19:20Z human_phenotype HP:0032838 Neonatal unilateral epileptic spasm HP:0032838 Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body. PMID:28276064 Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. 2020-03-17T07:20:45Z human_phenotype HP:0032839 No predominant feature can be determined, instead the seizure presents with a variety of clinical signs. Several features typically occur in a sequence, often with changing lateralization within or between seizures. Most commonly seen in epilepsies of genetic etiology. Bilateral symmetric neonatal sequential seizure HP:0032839 Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs. PMID:28276064 Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. 2020-03-17T07:21:54Z human_phenotype HP:0032840 Neonatal bilateral symmetric epileptic spasm HP:0032840 Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body. PMID:28276064 Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. 2020-03-17T07:30:21Z human_phenotype HP:0032841 Neonatal bilateral asymmetric epileptic spasm HP:0032841 Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body. PMID:28276064 A type of epileptic spasm of generalized onset. 2020-03-17T11:49:52Z Generalised onset epileptic spasm Generalised-onset epileptic spasm Generalized onset epileptic spasm human_phenotype HP:0032842 Generalized-onset epileptic spasm HP:0032842 A type of epileptic spasm of generalized onset. PMID:28276060 PMID:28276064 A type of epileptic spasm of focal onset. 2020-03-17T12:02:56Z Focal onset epileptic spasm human_phenotype HP:0032843 The degree of awareness during the seizure is rarely known. Focal-onset epileptic spasm HP:0032843 A type of epileptic spasm of focal onset. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. 2020-03-17T12:04:30Z human_phenotype HP:0032844 Focal impaired awareness epileptic spasm HP:0032844 A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. 2020-03-17T12:06:42Z human_phenotype HP:0032845 Focal aware epileptic spasm HP:0032845 A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. 2020-03-17T13:16:22Z human_phenotype HP:0032846 This is seen in the epilepsy syndrome atypical childhood epilepsy with centrotemporal spikes, where an upper limb or the head is affected by localized brief interruption in normal muscle tone. The patient may correct for the loss of tone with overshoot past the primary position. Focal motor seizure with negative myoclonus HP:0032846 A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure. PMID:28276060 Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. 2020-03-17T13:25:15Z human_phenotype HP:0032847 Focal impaired awareness hemifacial clonic seizure HP:0032847 Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure. PMID:28276060 A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. 2020-03-17T13:54:08Z human_phenotype HP:0032848 Focal aware cognitive seizure with neglect HP:0032848 A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure. PMID:28276060 Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. 2020-03-17T18:26:51Z human_phenotype HP:0032849 Aphasic status epilepticus HP:0032849 Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit. PMID:26336950 A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. 2020-03-17T18:29:26Z human_phenotype HP:0032850 Focal aware cognitive seizure with expressive dysphasia/aphasia HP:0032850 A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure. PMID:28276060 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. 2020-03-17T18:31:30Z human_phenotype HP:0032851 More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Focal aware sensory seizure with visual features HP:0032851 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis. PMID:28276060 A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. 2020-03-17T18:34:02Z human_phenotype HP:0032852 Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia HP:0032852 A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. 2020-03-17T18:36:34Z human_phenotype HP:0032853 Focal impaired awareness sensory seizure with hot-cold sensations HP:0032853 A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. 2020-03-17T18:51:40Z human_phenotype HP:0032854 Focal aware hemifacial clonic seizure HP:0032854 Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout. PMID:11580774 PMID:28276060 PMID:28276064 Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. 2020-03-17T19:17:07Z Photically induced myoclonic-tonic-clonic seizure human_phenotype HP:0032855 Photosensitive myoclonic-tonic-clonic seizure HP:0032855 Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light. PMID:28276060 A type of focal bilateral motor seizure during which awareness is fully retained throughout. 2020-03-18T05:53:17Z human_phenotype HP:0032856 Focal aware bilateral motor seizure HP:0032856 A type of focal bilateral motor seizure during which awareness is fully retained throughout. PMID:28276060 A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. 2020-03-18T05:56:21Z Focal motor aware seizure with negative myoclonus human_phenotype HP:0032857 Focal aware motor seizure with negative myoclonus HP:0032857 A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure. PMID:28276060 A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure. 2020-03-18T05:57:43Z Focal motor impaired awareness seizure with negative myoclonus human_phenotype HP:0032858 Focal impaired awareness motor seizure with negative myoclonus HP:0032858 A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. 2020-03-18T05:59:00Z Focal motor impaired awareness seizure with paresis/paralysis human_phenotype HP:0032859 Focal impaired awareness motor seizure with paresis/paralysis HP:0032859 A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure. PMID:28276060 Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. 2020-03-18T06:03:04Z Absence status epilepticus Generalised non-convulsive status epilepticus without coma Petit mal status epilepticus human_phenotype HP:0032860 Generalized non-convulsive status epilepticus without coma HP:0032860 Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. PMID:26336950 Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. 2020-03-18T06:06:12Z Focal non-convulsive status epilepticus with impairment of awareness human_phenotype HP:0032861 Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms, depending on the fluctuation of consciousness. In 2015, the ILAE Task Force on Classification of Status Epilepticus proposed that time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) is 10 minutes and t2 (the time at which long-term consequences of the seizure may be expected) is at least 60 minutes for focal status epilepticus with impaired consciousness. Focal non-convulsive status epilepticus with impairment of consciousness HP:0032861 Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired. PMID:28276060 A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. 2020-03-18T06:08:19Z Focal inhibitory status epilepticus human_phenotype HP:0032862 Ictal paresis or inhibitory motor seizures are a relatively rare type of seizure characterized by an inability to initiate or continue movements despite retained awareness, which could last for many hours or even days. These manifest with paresis/paralysis of 1 side of the body (hemiplegia with or without facial involvement) or 1 extremity (upper or lower monoplegia) and are often preceded by other objective or subjective ictal symptoms, which may also occur concomitantly with the paresis or independently. Status epilepticus with ictal paresis HP:0032862 A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures. PMID:17116038 PMID:25667883 PMID:26336950 Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. 2020-03-18T06:10:21Z Simple absence status epilepticus human_phenotype HP:0032863 This may occur as a consequence of medication withdrawal in absence epilepsy syndromes. Typical absence status epilepticus HP:0032863 Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure. PMID:26336950 A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. 2020-03-18T06:11:55Z human_phenotype HP:0032864 This type of seizure is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones. More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe. Focal aware sensory seizure with auditory features HP:0032864 A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. PMID:28276060 Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. 2020-03-18T06:13:10Z human_phenotype HP:0032865 Myoclonic absence status epilepticus HP:0032865 Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. PMID:26336950 A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. 2020-03-18T06:25:01Z human_phenotype HP:0032866 Oculoclonic status epilepticus HP:0032866 A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges. PMID:11967176 PMID:26336950 PMID:2912713 Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. 2020-03-18T06:26:33Z human_phenotype HP:0032867 Refractory status epilepticus HP:0032867 Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. PMID:19817823 Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. 2020-03-18T06:27:21Z human_phenotype HP:0032868 Super-refractory status epilepticus HP:0032868 Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent. PMID:21914716 Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. 2020-03-18T06:30:22Z Aura continua Focal non-convulsive status epilepticus with retained awareness Focal non-convulsive status epilepticus without impairment of awareness human_phenotype HP:0032869 Semiology may include autonomic, sensory, visual, olfactory, gustatory, emotional/psychic/experiential, or cognitive symptoms. In 2015, the ILAE Task Force on Classification of Status Epilepticus did not propose a specific time t1 (indicating the time that emergency treatment should be started because the seizure is unlikely to terminate spontaneously) or t2 (the time at which long-term consequences of the seizure may be expected) for focal status epilepticus without impaired consciousness. Focal non-convulsive status epilepticus without impairment of consciousness HP:0032869 Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact. PMID:26336950 A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. 2020-03-18T06:37:53Z human_phenotype HP:0032870 Focal impaired awareness cognitive seizure with dyslexia/alexia HP:0032870 A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. 2020-03-18T06:40:31Z human_phenotype HP:0032871 Focal aware cognitive seizure with hallucination HP:0032871 A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure. PMID:28276060 A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. 2020-03-18T06:46:12Z human_phenotype HP:0032872 Focal impaired awareness cognitive seizure with illusion HP:0032872 A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure. PMID:28276060 A seizure characterized by a sensation in the head such as light-headedness or headache. 2020-03-18T06:59:34Z human_phenotype HP:0032873 Focal aware sensory seizure with cephalic sensation HP:0032873 A seizure characterized by a sensation in the head such as light-headedness or headache. PMID:28276060 A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. 2020-03-18T06:46:12Z human_phenotype HP:0032874 Focal impaired awareness cognitive seizure with auditory agnosia HP:0032874 A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure. PMID:28276060 HP:0032756 2020-03-18T06:46:12Z human_phenotype HP:0032875 obsolete Focal impaired awareness cognitive seizure with impaired responsiveness true HP:0032875 A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. 2020-03-18T06:47:45Z human_phenotype HP:0032876 Focal aware cognitive seizure with conduction dysphasia/aphasia HP:0032876 A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure. PMID:28276060 A seizure characterized by sensations of feeling hot and then cold. 2020-03-18T06:49:18Z human_phenotype HP:0032877 Focal aware sensory seizure with hot-cold sensations HP:0032877 A seizure characterized by sensations of feeling hot and then cold. PMID:28276060 A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. 2020-03-18T07:00:29Z human_phenotype HP:0032878 Focal impaired awareness sensory seizure with cephalic sensation HP:0032878 A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure. 2020-03-18T07:04:34Z human_phenotype HP:0032879 Focal impaired awareness seizure with dissociation at onset HP:0032879 A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure. PMID:28276060 A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. 2020-03-18T07:48:32Z human_phenotype HP:0032880 Focal impaired awareness sensory seizure with auditory features HP:0032880 A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 HP:0032681 2020-03-18T10:10:16Z human_phenotype HP:0032881 obsolete Focal aware cognitive seizure with impaired responsiveness true HP:0032881 A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. 2020-03-18T10:11:37Z human_phenotype HP:0032882 Focal impaired awareness cognitive seizure with deja vu/jamais vu HP:0032882 A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. 2020-03-18T10:12:52Z human_phenotype HP:0032883 Focal aware cognitive seizure with deja vu/jamais vu HP:0032883 A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure. PMID:28276060 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. 2020-03-18T10:15:54Z human_phenotype HP:0032884 These seizures involve the sensorimotor cortex. Focal aware sensory seizure with somatosensory features HP:0032884 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure. PMID:28276060 A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. 2020-03-18T10:26:15Z human_phenotype HP:0032885 Focal impaired awareness cognitive seizure with hallucination HP:0032885 A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure. PMID:28276060 A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. 2020-03-18T10:27:40Z human_phenotype HP:0032886 Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia HP:0032886 A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. PMID:28276060 Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. 2020-03-18T10:30:46Z Generalised atonic seizure human_phenotype HP:0032887 Atonic means without tone. When leg tone is lost during a generalized atonic seizure, the patient falls on the buttocks or sometimes forward onto the knees and face. Recovery is usually within seconds. Generalized atonic seizure HP:0032887 Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature. PMID:28276060 PMID:28276064 A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. 2020-03-18T10:42:21Z human_phenotype HP:0032888 Focal impaired awareness cognitive seizure with forced thinking HP:0032888 A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure. PMID:28276060 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. 2020-03-18T11:18:38Z human_phenotype HP:0032889 These seizures involve the parietal operculum and the insula. Focal aware sensory seizure with gustatory features HP:0032889 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes. PMID:28276060 A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. 2020-03-18T11:22:21Z human_phenotype HP:0032890 Focal impaired awareness sensory seizure with somatosensory features HP:0032890 A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal motor seizure with version characterized by retained awareness throughout the seizure. 2020-03-18T11:22:21Z Focal motor aware seizure with version human_phenotype HP:0032891 Focal aware motor seizure with version HP:0032891 A focal motor seizure with version characterized by retained awareness throughout the seizure. PMID:28276060 Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. 2020-03-18T14:01:49Z human_phenotype HP:0032892 This includes seizures in the context of febrile or afebrile infection. Infection-related seizure HP:0032892 Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. PMID:28276060 Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. 2020-03-18T14:01:49Z human_phenotype HP:0032893 Most typically these seizures have been studied in children between the ages of six months and three years. They often occur in clusters. Gastroenteritis-related afebrile seizure HP:0032893 Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause. PMID:12453597 PMID:29935410 Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. 2020-03-18T14:01:49Z Fever induced seizure human_phenotype HP:0032894 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. Seizure precipitated by febrile infection HP:0032894 Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. PMID:28276060 Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. 2020-03-18T14:04:47Z human_phenotype HP:0032895 Some but not all people with the epilepsy syndrome of Febrile Seizures Plus have these types of seizures. Febrile seizure outside the age of 3 months to 6 years HP:0032895 Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure. PMID:30078767 PMID:9126059 Seizure precipitated by listening to music or other complex sounds. 2020-03-18T14:11:19Z human_phenotype HP:0032896 Music-induced seizure HP:0032896 Seizure precipitated by listening to music or other complex sounds. PMID:11422340 A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. 2020-03-18T14:14:01Z human_phenotype HP:0032897 Focal impaired awareness sensory seizure with gustatory features HP:0032897 A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. 2020-03-18T15:13:18Z human_phenotype HP:0032898 An automatism is a coordinated, repetitive motor activity, often resembling a voluntary movement, but undertaken without volition. Focal automatism seizure HP:0032898 A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. PMID:11580774 PMID:28276060 PMID:28276064 A type of focal automatism seizure characterized by orofacial automatisms at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032899 These may include involuntary lip smacking, lip pursing, chewing, swallowing, clicking sounds, or eye-blinking. Focal orofacial automatism seizure HP:0032899 A type of focal automatism seizure characterized by orofacial automatisms at onset. PMID:28276060 A type of focal automatism seizure characterized by manual automatisms at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032900 These may include involuntary unilateral or bilateral, fumbling, tapping, manipulating, or exploratory movements of the hands. Focal manual automatism seizure HP:0032900 A type of focal automatism seizure characterized by manual automatisms at onset. PMID:28276060 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. 2020-03-18T15:13:18Z human_phenotype HP:0032901 These may include pacing, walking, or running. Focal pedal automatism seizure HP:0032901 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. PMID:28276060 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032902 Focal perseverative automatism seizure HP:0032902 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset. PMID:28276060 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032903 Focal vocal automatism seizure HP:0032903 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. PMID:28276060 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032904 Focal verbal automatism seizure HP:0032904 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset. PMID:28276060 A type of focal automatism seizure characterized by involuntary sexual behavior at onset. 2020-03-18T15:13:18Z human_phenotype HP:0032905 Focal sexual automatism seizure HP:0032905 A type of focal automatism seizure characterized by involuntary sexual behavior at onset. PMID:28276060 A type of focal automatism seizure characterized by involuntary head nodding at onset. 2020-03-18T15:14:55Z human_phenotype HP:0032906 Focal head nodding automatism seizure HP:0032906 A type of focal automatism seizure characterized by involuntary head nodding at onset. PMID:28276060 A type of focal automatism seizure characterized by involuntary undressing at onset. 2020-03-18T15:14:55Z human_phenotype HP:0032907 Focal undressing automatism seizure HP:0032907 A type of focal automatism seizure characterized by involuntary undressing at onset. PMID:28276060 A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032908 Focal aware undressing automatism seizure HP:0032908 A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout. PMID:28276060 A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. 2020-03-18T15:14:55Z human_phenotype HP:0032909 Focal impaired awareness automatism seizure HP:0032909 A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure. PMID:28276060 PMID:28276064 A type of focal automatism seizure during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032910 Focal aware automatism seizure HP:0032910 A type of focal automatism seizure during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032911 Focal aware orofacial automatism seizure HP:0032911 A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032912 Focal aware manual automatism seizure HP:0032912 A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. 2020-03-18T15:39:01Z human_phenotype HP:0032913 Focal aware pedal automatism seizure HP:0032913 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. PMID:28276060 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032914 Focal aware perseverative automatism seizure HP:0032914 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032915 Focal aware vocal automatism seizure HP:0032915 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032916 Focal aware verbal automatism seizure HP:0032916 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032917 Focal aware sexual automatism seizure HP:0032917 A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032918 Focal impaired awareness orofacial automatism seizure HP:0032918 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset. PMID:28276060 A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. 2020-03-18T15:39:01Z human_phenotype HP:0032919 Focal aware head nodding automatism seizure HP:0032919 A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032920 Focal impaired awareness manual automatism seizure HP:0032920 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. 2020-03-18T15:39:01Z human_phenotype HP:0032921 Focal impaired awareness pedal automatism seizure HP:0032921 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032922 Focal impaired awareness perseverative automatism seizure HP:0032922 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032923 Focal impaired awareness vocal automatism seizure HP:0032923 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032924 Focal impaired awareness verbal automatism seizure HP:0032924 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset. PMID:28276060 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032925 Focal impaired awareness sexual automatism seizure HP:0032925 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset. PMID:28276060 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032926 Focal impaired awareness head nodding automatism seizure HP:0032926 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset. PMID:28276060 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. 2020-03-18T15:39:01Z human_phenotype HP:0032927 Focal impaired awareness undressing automatism seizure HP:0032927 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset. PMID:28276060 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. 2020-03-18T17:21:11Z Elevated CSF neurofilament light chain human_phenotype HP:0032928 Elevated CSF neurofilament light chain concentration HP:0032928 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases. PMID:31182505 Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage. 2020-03-19T07:42:12Z human_phenotype HP:0032929 Abnormal chondrocyte morphology HP:0032929 Concentric rings around the chondrocytes. 2020-03-19T07:42:12Z human_phenotype HP:0032930 See Figure 2 in PMID:8571951. Lacunar halos around chondrocytes HP:0032930 Concentric rings around the chondrocytes. PMID:8571951 HP:0032756 2020-03-19T08:01:33Z human_phenotype HP:0032931 obsolete Focal impaired awareness cognitive seizure with impaired attention true HP:0032931 An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). 2020-03-19T08:01:33Z Elevated circulating pancreatic triacylglycerol lipase activity human_phenotype HP:0032932 Acute pancreatitis is the main reason for an increase in lipase, although a number of other conditions such as chronic pancreatitis, acute cholecystitis, and bowel obstruction can increase lipase activity. In acute pancreatitis, serum lipase levels usually rise within 4 to 8 hours, peak at 24 hours, and decrease to normal or near normal levels over the next 8 to 14 days. Serum lipase remains elevated for a longer period of time compared to the period of elevation of serum amylase after acute pancreatitis. A common threshold used is three times the normal limit. Increased circulating pancreatic triacylglycerol lipase level HP:0032932 An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma). PMID:28431198 An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. 2020-03-19T08:28:11Z human_phenotype HP:0032933 Airway hyperresponsiveness HP:0032933 An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist. PMID:12629006 A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). 2020-03-19T12:28:38Z human_phenotype HP:0032934 Spontaneous cerebrospinal fluid leak HP:0032934 A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). PMID:19225307 PMID:22929030 Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. 2020-03-19T12:48:01Z human_phenotype HP:0032935 Posterior crocodile shagreen of the cornea HP:0032935 Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin. PMID:19682623 Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context. 2020-03-21T07:56:00Z Re-experiencing symptom human_phenotype HP:0032936 Vivid intrusive memories, flashbacks, or nightmares are typically accompanied by strong and overwhelming emotions, such as fear or horror, as well as intense physical sensations. Intrusion symptom HP:0032936 After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory. 2020-03-21T07:56:00Z Recurrent, involuntary, and intrusive distressing memories human_phenotype HP:0032937 Intrusive mental imagery HP:0032937 After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory. PMID:26236244 Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events. 2020-03-21T07:56:00Z human_phenotype HP:0032938 Recurrent trauma-related distressing dreams HP:0032938 Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). 2020-03-21T07:56:00Z human_phenotype HP:0032939 Physiological reactivity to cues HP:0032939 Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s). PMID:26611143 Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality. 2020-03-21T07:56:00Z Dissociative reaction human_phenotype HP:0032940 Dissociation HP:0032940 Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events. 2020-03-21T07:56:00Z human_phenotype HP:0032941 Intense psychological distress to cues HP:0032941 Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). 2020-03-21T07:56:00Z human_phenotype HP:0032942 Avoidance of stimuli associated with traumatic event HP:0032942 A deviation of urine pH from the normal range of 4.5 to 7.8. 2020-03-22T17:17:31Z human_phenotype HP:0032943 Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. Abnormal urine pH HP:0032943 Urine pH of 8 or higher. 2020-03-22T17:17:31Z human_phenotype HP:0032944 Alkaline urine HP:0032944 Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. 2020-04-25T07:57:43Z human_phenotype HP:0032945 Renal interstitial inflammation HP:0032945 Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. https://orcid.org/0000-0003-2356-950X Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. 2020-04-25T07:57:43Z human_phenotype HP:0032946 Renal cortical interstitial inflammation HP:0032946 Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells. https://orcid.org/0000-0003-2356-950X Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. 2020-04-25T07:57:43Z human_phenotype HP:0032947 Renal medullary interstitial inflammation HP:0032947 Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells. https://orcid.org/0000-0003-2356-950X The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. 2020-04-25T08:18:25Z human_phenotype HP:0032948 Tubular atrophy (TA) is defined as loss of specialized transport and metabolic capacity and typically manifested by small tubules with cells with pale cytoplasm or dilated, thin tubules. TA is usually associated with IF, but probably has distinct mechanisms related to blood flow, glomerular filtration rate (GFR) or tubular continuity loss. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). Renal interstitial fibrosis HP:0032948 The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. PMID:22449945 The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. 2020-04-25T08:26:30Z human_phenotype HP:0032949 Renal interstitial calcium phosphate deposits HP:0032949 The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits. PMID:21804087 https://orcid.org/0000-0003-2356-950X Abnormal structure or form of the lumen (opening) of kidney tubules. 2020-04-25T08:44:09Z Abnormal renal tubular luminal morphology human_phenotype HP:0032950 Abnormal renal tubular lumen morphology HP:0032950 Abnormal structure or form of the lumen (opening) of kidney tubules. PMID:23101152 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. 2020-04-25T08:51:56Z human_phenotype HP:0032951 Renal tubular viral cytopathic changes HP:0032951 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells. PMID:21436288 PMID:29273157 A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. 2020-04-25T08:57:08Z Common-type renal tubular atrophy human_phenotype HP:0032952 Usual-type tubular atrophy HP:0032952 A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis. PMID:7906246 Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages. 2020-04-25T09:07:50Z human_phenotype HP:0032953 Renal tubular cytomegalovirus inclusions HP:0032953 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. 2020-04-25T09:07:50Z human_phenotype HP:0032954 Renal tubular adenovirus inclusions HP:0032954 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. PMID:29273157 https://orcid.org/0000-0003-2356-950X Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection. 2020-04-25T09:16:00Z human_phenotype HP:0032955 The inclusions are generally accompanied by a patchy pleomorphic interstitial infiltrate with lymphocytes, plasma cells, and occasional neutrophils with associated interstitial edema, tubulitis, and tubular injury. Infected tubular epithelial cells have enlarged nuclei with amorphous inclusions. Polyomavirus infection occurs in the transplanted allograft kidney and in the native kidney of immunosuppressed patients, and is usually related to BK virus (80%), JC virus (10%-20%), and less frequently simian virus 40 (SV40). Renal tubular polyoma virus inclusions HP:0032955 Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. 2020-04-25T09:16:00Z human_phenotype HP:0032956 Renal tubular herpes simplex virus inclusions HP:0032956 Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis. PMID:27884285 https://orcid.org/0000-0003-2356-950X The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. 2020-04-25T12:11:25Z Acanthocyturia human_phenotype HP:0032957 Dysmorphic hematuria HP:0032957 The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria. PMID:16362157 The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. 2020-04-25T12:16:03Z human_phenotype HP:0032958 Urinary oval fat bodies HP:0032958 The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets. PMID:13171348 Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. 2020-04-25T12:18:37Z human_phenotype HP:0032959 Intratubular calcium oxalate casts HP:0032959 Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney. https://orcid.org/0000-0003-2356-950X Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. 2020-04-25T12:20:26Z human_phenotype HP:0032960 Intratubular calcium phosphate casts HP:0032960 Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney. https://orcid.org/0000-0003-2356-950X Magnesium ammonium phosphate crystals in the urine. 2020-04-25T12:22:31Z Struvite urinary crystals human_phenotype HP:0032961 Magnesium ammonium phosphate crystalluria HP:0032961 Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border. 2020-04-25T12:26:13Z human_phenotype HP:0032962 Tubular microcystic change HP:0032962 A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. 2020-04-25T12:28:19Z human_phenotype HP:0032963 Complex renal cyst HP:0032963 A renal cyst characterized by epithelium lined space (squamous/columnar) with septations. PMID:18776117 https://orcid.org/0000-0003-2356-950X The presence of uric acid crystals in the urine. 2020-04-25T12:31:17Z human_phenotype HP:0032964 Uric acid crystals are very pleiomorphic, but the rhomboidal shape is the most frequent. Distinctive morphological features are the amber color and the constant polychromatic birefringence. These crystals can be found both in normal subjects as well as in stone formers. Moreover, they can be found, alone or with amorphous urates in patients with increased purine metabolism. Uric acid crystalluria HP:0032964 The presence of uric acid crystals in the urine. PMID:25045326 PMID:8671802 Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. 2020-04-25T12:44:03Z human_phenotype HP:0032965 Interstitial emphysema HP:0032965 Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. PMID:18195376 https://orcid.org/0000-0002-7371-8158 A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. 2020-04-25T12:44:03Z Centriacinar emphysema human_phenotype HP:0032966 Centrilobular emphysema HP:0032966 A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones. PMID:18195376 PMID:4014865 PMID:7976869 https://orcid.org/0000-0002-0104-692X Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. 2020-04-25T12:44:03Z human_phenotype HP:0032967 Panacinar emphysema HP:0032967 Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. PMID:1395384 PMID:18195376 PMID:8370825 https://orcid.org/0000-0003-0113-912X Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. 2020-04-25T12:46:29Z human_phenotype HP:0032968 The extent of air trapping present on expiratory scans can be measured using a semiquantitative scoring system, which estimates the percentage of lung that appears abnormal on each scan. Such systems have the advantage of being simple, quick, and easy to perform at the time of image interpretation. Furthermore, in one study, a simple 5-point scoring system was found to be associated with better interobserver agreement than a more detailed scoring system. Expiratory air trapping HP:0032968 Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration. PMID:10524809 PMID:18195376 PMID:7972745 https://orcid.org/0000-0002-7371-8158 Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. 2020-04-25T12:55:04Z human_phenotype HP:0032969 The juxtaposition of numerous cystic airways may make the distinction from pure fibrotic honeycombing difficult. Also the differentation to peribronchovascular interstitial thickening can be difficult, but they can be distinguished on the basis of symptoms or pulmonary function abnormalities. In addition, patients with traction bronchiectasis have abnormal thick-walled and dilated bronchi that often appear much larger than the adjacent pulmonary artery branches, with a bronchoarterial ratio exceeding 1. This results in the appearance of an additional finding, the signet ring sign (HP:0032175). Traction bronchiectasis HP:0032969 Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts. PMID:18195376 PMID:3786716 https://orcid.org/0000-0002-7371-8158 2020-04-25T12:59:28Z human_phenotype HP:0032970 Distortion of the bronchiolar airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchiolar dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as microcysts. Traction bronchiolectasis HP:0032970 Distortion of the bronchiolar airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchiolar dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as microcysts. PMID:18195376 https://orcid.org/0000-0002-0104-692X CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. 2020-04-25T13:12:15Z CT halo sign human_phenotype HP:0032971 Computed tomographic halo sign HP:0032971 CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm. PMID:18195376 PMID:3864189 https://orcid.org/0000-0003-0113-912X CT halo sign A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. 2020-04-28T06:43:21Z human_phenotype HP:0032972 Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT HP:0032972 A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases. https://orcid.org/0000-0002-0104-692X Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. 2020-04-28T06:43:21Z human_phenotype HP:0032973 Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. Abnormal bronchoalveolar lavage fluid morphology HP:0032973 Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. https://orcid.org/0000-0003-0113-912X Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. 2020-04-28T06:47:07Z Abnormal cell differential of broncho-alveolar fluid human_phenotype HP:0032974 Abnormal cellular composition of bronchoalveolar fluid HP:0032974 Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%. ISBN:0412792702 PMID:10678650 PMID:3396403 https://orcid.org/0000-0003-0113-912X Any deviation from the normal concentration of protein in the bronchoalveolar fluid. 2020-04-28T06:52:58Z Abnormal biochemical composition of broncho-alveolar fluid Abnormal level of proteins in the broncho-alveolar fluid human_phenotype HP:0032975 Abnormal bronchoalveolar fluid protein level HP:0032975 Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. 2020-04-28T06:52:58Z human_phenotype HP:0032976 Elevated bronchoalveolar lavage fluid lymphocyte proportion HP:0032976 Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. ISBN:0412792702 PMID:10678650 PMID:3396403 https://orcid.org/0000-0002-0104-692X Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. 2020-04-28T06:55:26Z Elevated level of neutrophils in broncho-alveolar lavage fluid human_phenotype HP:0032977 Elevated bronchoalveolar lavage fluid neutrophil proportion HP:0032977 Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. ISBN:0412792702 PMID:10678650 PMID:3396403 https://orcid.org/0000-0002-0104-692X Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. 2020-04-28T07:02:53Z human_phenotype HP:0032978 Lipid-laden macrophages in bronchoalveolar fluid HP:0032978 Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions. ISBN:0412792702 PMID:11757629 https://orcid.org/0000-0002-0104-692X Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). 2020-04-28T07:20:09Z Accumulation of hemosiderin laden alveolar macrophages Siderophages in bronchoalveolar fluid human_phenotype HP:0032979 Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Hemosiderin-laden macrophages in bronchoalveolar fluid HP:0032979 Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). PMID:16871595 PMID:23678356 PMID:25515792 PMID:28166761 https://orcid.org/0000-0003-0113-912X Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region. 2020-04-28T07:25:30Z human_phenotype HP:0032980 Absent bronchoalveolar surfactant-protein C HP:0032980 Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region. PMID:26375475 https://orcid.org/0000-0002-7371-8158 Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. 2020-04-28T07:42:59Z human_phenotype HP:0032981 Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-B may result of surfactant metabolism dysfunction. Absent bronchoalveolar dimeric surfactant-protein B HP:0032981 Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. PMID:26375475 https://orcid.org/0000-0002-0104-692X HP:0006517 2020-04-28T07:42:59Z human_phenotype HP:0032982 obsolete Intraalveolar phospholipid accumulation true HP:0032982 CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. 2020-04-28T07:42:59Z Reversed halo sign human_phenotype HP:0032983 Atoll sign HP:0032983 CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis. PMID:10414267 PMID:15908556 PMID:22553298 https://orcid.org/0000-0002-7371-8158 Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. 2020-04-28T07:49:36Z human_phenotype HP:0032984 Abnormal alveolar macrophage morphology HP:0032984 Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles. ISBN:0412792702. https://orcid.org/0000-0003-0113-912X Accumulation of inhaled, nondigestable particles in macrophages. 2020-04-28T07:49:36Z human_phenotype HP:0032985 This can be recognized in May-Grunwald-Giemsa routine stains. Rarey and for special indications, BAL can be further analyzed to identify and quantify dust exposure. X-ray microprobe analysis identified particles which related to the known exposures, superimposed on a background of other particles related to smoking (kaolinite and mica) or to the general environment (silicon, titanium, and iron). Inhaled dust can follow in fibrous tissue and scarring which follow in impaired lung function. Dust particle inclusion in alveolar macrophages HP:0032985 Accumulation of inhaled, nondigestable particles in macrophages. ISBN:0412792702 PMID:3740951 https://orcid.org/0000-0003-0113-912X In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. 2020-04-28T07:49:36Z human_phenotype HP:0032986 Smoker-inclusions in alveolar macrophages HP:0032986 In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits. ISBN:0412792702 https://orcid.org/0000-0003-0113-912X Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. 2020-04-29T09:45:32Z human_phenotype HP:0032987 Elevated bronchoalveolar lavage fluid eosinophil proportion HP:0032987 Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. ISBN:0412792702 PMID:10678650 PMID:3396403 https://orcid.org/0000-0003-0113-912X The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. 2020-05-04T08:26:12Z Head lag Headlag human_phenotype HP:0032988 During pull-to-sit, the normal response is for an infant to right the head and maintain it in line with the shoulders. Head lag is demonstrated when the head is not righted but lags posteriorly behind the trunk as a result of poor head and neck control. Persistent head lag HP:0032988 The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. PMID:26709421 Delayed achievement of the ability to roll front to back and back to front. 2020-05-04T13:16:26Z human_phenotype HP:0032989 Most infants can roll from the prone to supine position (front to back) at the age of 4 months. Most infants can roll from back to front at the age of 5 or 6 months. Delayed ability to roll over HP:0032989 Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. 2020-05-07T07:12:18Z Localised pulmonary haemorrhage human_phenotype HP:0032990 Localized pulmonary hemorrhage HP:0032990 Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder. https://orcid.org/0000-0002-0104-692X Localised pulmonary haemorrhage An abnormal form or number of the pulmonary fissures. 2020-05-07T07:12:18Z human_phenotype HP:0032991 A fissure is the infolding of visceral pleura that separates one lobe or part of a lobe from another; thus, the interlobar fissures are produced by two layers of visceral pleura. The azygos fissure, unlike the other fissures, is formed by two layers each of visceral and parietal pleura. Supernumerary fissures usually separate segments rather than lobes. Supernumerary fissures usually separate segments rather than lobes. Abnormal pulmonary fissure morphology HP:0032991 An abnormal form or number of the pulmonary fissures. https://orcid.org/0000-0003-0113-912X An abnormal form or location of a pulmonary fissure. 2020-05-07T07:12:18Z human_phenotype HP:0032992 Abnormal pulmonary fissure architecture HP:0032992 A deviation from the normal number of pulmonary fissures. 2020-05-07T07:12:18Z human_phenotype HP:0032993 Abnormal pulmonary fissure count HP:0032993 Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes. 2020-05-07T07:12:18Z increased pulmonary fissure count human_phenotype HP:0032994 Supernumerary pulmonary fissure HP:0032994 Lack of one or more of the normal pulmonary fissures. 2020-05-07T07:12:18Z Reduced pulmonary fissure count human_phenotype HP:0032995 Decreased pulmonary fissure count HP:0032995 Any deviation from the normal concentration of cystatin-C in the blood circulation. 2020-05-09T08:08:53Z Abnormal circulating cystatin-C concentration Abnormal cystatin-C level human_phenotype HP:0032996 The cysteine protease inhibitor cystatin C is thought to be secreted by most cells and eliminated in the kidneys, so its concentration in plasma is diagnostic of kidney function. Abnormal circulating cystatin-C concentration HP:0032996 The concentration of cystatin-C in the blood circulation is below the lower limit of normal. 2020-05-09T08:08:53Z Decreased circulating cystatin-C concentration Decreased cystatin C level Decreased cystatin-C concentration Decreased cystatin-C level Decreased cystatin-C level in blood Reduced cystatin-C concentration Reduced cystatin-C level Reduced cystatin-C level in blood human_phenotype HP:0032997 Decreased circulating cystatin-C concentration HP:0032997 The concentration of cystatin-C in the blood circulation is above the upper limit of normal. 2020-05-09T08:08:53Z Elevated circulating cystatin-C concentration Elevated cystatin-C concentration Elevated cystatin-C level Elevated cystatin-C level in blood Increased cystatin-C concentration Increased cystatin-C level Increased cystatin-C level in blood human_phenotype HP:0032998 Elevated circulating cystatin-C concentration HP:0032998 Abnormally high concentration of fecal porphyrins in feces. 2020-05-09T08:17:43Z Increased faecal porphyrin human_phenotype HP:0032999 Increased fecal porphyrin HP:0032999 Abnormally high concentration of fecal porphyrins in feces. PMID:25372274 https://orcid.org/0000-0002-8169-9049 Increased faecal porphyrin Narrowing of the larynx, commonly occurring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. 2020-05-14T08:07:32Z Croup Laryngitis Pseudocroup Spasmodic croup Viral croup human_phenotype HP:0033000 Subglottic laryngitis HP:0033000 Narrowing of the larynx, commonly occurring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure. PMID:31680234 https://orcid.org/0000-0003-0113-912X A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. 2020-05-14T08:07:32Z Laryngeal papillomas Laryngeal papillomatosis human_phenotype HP:0033001 Laryngeal papilloma HP:0033001 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. PMID:30828624 Laryngeal papillomas A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. 2020-05-14T08:07:32Z human_phenotype HP:0033002 Bronchial papilloma HP:0033002 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus. PMID:32309132 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. 2020-05-14T08:07:32Z human_phenotype HP:0033003 Tracheal papilloma HP:0033003 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea. PMID:32309132 Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV). 2020-05-14T08:15:04Z human_phenotype HP:0033004 Palmar warts HP:0033004 Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV). PMID:17210977 Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). 2020-05-14T08:15:04Z human_phenotype HP:0033005 Plantar warts HP:0033005 Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). PMID:17210977 Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation. 2020-05-14T08:22:42Z human_phenotype HP:0033006 Diffuse alveolar damage HP:0033006 Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation. PMID:28570160 PMID:32364264 https://orcid.org/0000-0003-0113-912X Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. 2020-05-14T08:25:30Z human_phenotype HP:0033007 Architectural distortion of the lung HP:0033007 Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss. PMID:25489125 https://orcid.org/0000-0003-0113-912X Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). 2020-05-14T08:36:59Z Increased Z-disk width Widened z-discs human_phenotype HP:0033008 The sarcomere is the basic contractile unit of striated muscle, and is composed of highly ordered thin (actin) filaments and thick (myosin) filaments. The cytoskeleton surrounding this elegant contractile molecular machinery is required as a scaffold to ensure efficiency of contraction. Longitudinally, sarcomeres are connected by Z-disk lattices that anchor thin filaments and transmit force along the myofibril. The strikingly regular lateral alignment of Z-disks between adjacent myofibrils ensures that during contraction myofibrils change length in unison, thus preventing damage to membrane systems that span between myofibrils and that are responsible for activating and relaxing the sarcomeres (T-tubules, sarcoplasmic reticulum). Increased Z-disc width HP:0033008 Abnormally high concentration of coproporphyrin 1 in feces. 2020-05-14T08:39:46Z Elevated faecal coproporphyrin 1 Elevated fecal coproporphyrin 1 Elevated stool coproporphyrin 1 High faecal coproporphyrin 1 High fecal coproporphyrin 1 High stool coproporphyrin 1 Increased faecal coproporphyrin 1 human_phenotype HP:0033009 Increased fecal coproporphyrin 1 HP:0033009 Abnormally high concentration of coproporphyrin 1 in feces. PMID:3327428 https://orcid.org/0000-0002-8169-9049 Elevated faecal coproporphyrin 1 High faecal coproporphyrin 1 Increased faecal coproporphyrin 1 Abnormally high concentration of coproporphyrin 3 in feces 2020-05-14T08:41:55Z Elevated faecal coproporphyrin 3 Elevated fecal coproporphyrin 3 Elevated stool coproporphyrin 3 High faecal coproporphyrin 3 High fecal coproporphyrin 3 High stool coproporphyrin 3 Increased faecal coproporphyrin 3 human_phenotype HP:0033010 Increased fecal coproporphyrin 3 HP:0033010 Abnormally high concentration of coproporphyrin 3 in feces PMID:3327428 https://orcid.org/0000-0002-8169-9049 Elevated faecal coproporphyrin 3 High faecal coproporphyrin 3 Increased faecal coproporphyrin 3 Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. 2020-05-14T08:44:52Z human_phenotype HP:0033011 Platystencephaly HP:0033011 Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. PMID:31839203 Any deviation from the normal concentration of a metabolite in saliva. 2020-05-19T06:29:15Z human_phenotype HP:0033012 Abnormal salivary metabolite concentration HP:0033012 Any deviation from the normal concentration of cortisol in saliva. 2020-05-19T06:29:15Z human_phenotype HP:0033013 Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. Abnormal salivary cortisol level HP:0033013 Any deviation from the normal concentration of cortisol in saliva. PMID:18280810 PMID:19602555 https://orcid.org/0000-0002-8169-9049 Abnormally reduced concentration of cortisol in saliva. 2020-05-19T06:29:15Z human_phenotype HP:0033014 Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. Decreased salivary cortisol level HP:0033014 Abnormally reduced concentration of cortisol in saliva. PMID:18280810 PMID:19602555 https://orcid.org/0000-0002-8169-9049 Abnormally elevated concentration of cortisol in saliva. 2020-05-19T06:29:15Z human_phenotype HP:0033015 Literature suggests that saliva may provide a more sensitive measure of cortisol than serum or plasma. Increased salivary cortisol level HP:0033015 Abnormally elevated concentration of cortisol in saliva. PMID:18280810 PMID:19602555 https://orcid.org/0000-0002-8169-9049 A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood. 2020-05-23T10:40:05Z Chronic decreased IgM in blood human_phenotype HP:0033016 Chronic decreased circulating IgD concentration HP:0033016 A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation. 2020-05-23T10:40:05Z Transient decreased IgD in blood human_phenotype HP:0033017 Transient decreased circulating IgD concentration HP:0033017 A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured. 2020-05-23T10:40:05Z Chronic (near) absent IgM in blood human_phenotype HP:0033018 Chronic absent circulating IgD HP:0033018 A neoplasm that affects the male reproductive system. 2020-05-23T10:40:05Z NCIT:C3054 human_phenotype HP:0033019 Male reproductive system neoplasm HP:0033019 A neoplasm that affects the female reproductive system. 2020-05-23T10:40:05Z NCIT:C3053 human_phenotype HP:0033020 Female reproductive system neoplasm HP:0033020 A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. 2020-05-23T10:52:51Z Transient decreased IgE in blood Transient decreased circulating IgE human_phenotype HP:0033021 Transient decreased circulating IgE concentration HP:0033021 A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood. 2020-05-23T10:52:51Z Chronic decreased IgE in blood Chronic decreased circulating IgE human_phenotype HP:0033022 Chronic decreased circulating IgE concentration HP:0033022 A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured. 2020-05-23T10:52:51Z Chronic (near) absent IgE in blood human_phenotype HP:0033023 Chronic absent circulating IgE HP:0033023 A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation. 2020-05-23T10:52:51Z human_phenotype HP:0033024 Transient decreased circulating IgA concentration HP:0033024 A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured. 2020-05-23T14:15:04Z Chronic (near) absent total IgG in blood human_phenotype HP:0033025 Chronic absent circulating total IgG HP:0033025 A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. 2020-06-06T10:08:24Z human_phenotype HP:0033026 White oral mucosal macule HP:0033026 A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. PMID:23762643 A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. 2020-06-06T10:08:24Z human_phenotype HP:0033027 Retinal peau d'orange is a common finding in pseudoxanthoma elasticum. Retinal peau d'orange HP:0033027 A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. PMID:25526100 The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. 2020-06-13T11:09:23Z Anti-RNP-antibodies Anti-U1-RNP antibody positivity Anti-Scl-34 antibody positivity Anti-U3 ribonucleoprotein antibody positivity human_phenotype HP:0033028 High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus. Anti-U1 ribonucleoprotein antibody positivity HP:0033028 The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. PMID:15804705 PMID:29796907 https://orcid.org/0000-0002-7371-8158 Anti-RNP-antibodies HP:0034152 2020-06-06T10:08:24Z human_phenotype HP:0033029 obsolete Anti-Jo-1 antibody positivity true HP:0033029 The presence of autoantibodies in the serum that react to the glomerular basement membrane. 2020-06-13T11:18:10Z Anti-GBM-antibody positivity human_phenotype HP:0033030 Anti-GBM-antibodies are found in Goodpasture syndrome. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Anti-glomerular basement membrane-antibody positivity HP:0033030 The presence of autoantibodies in the serum that react to the glomerular basement membrane. PMID:20660402 https://orcid.org/0000-0002-0104-692X Anti-GBM-antibody positivity An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). 2020-06-13T11:41:12Z human_phenotype HP:0033031 Hyperpyrexia is considered a medical emergency and typically results in referral for emergency care. Hyperpyrexia HP:0033031 An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit). PMID:16818546 https://orcid.org/0000-0001-5208-3432 Applies to a sign or symptom that is induced by an abusive adult (usually a parent). 2020-06-13T11:41:12Z Munchausen syndrome by proxy human_phenotype HP:0033032 Munchausen syndrome by proxy is not a pediatric condition, but the outward manifestation of an adult psychiatric disorder. Triggered by an abusive adult HP:0033032 Applies to a sign or symptom that is induced by an abusive adult (usually a parent). PMID:29938745 https://orcid.org/0000-0002-7371-8158 The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). 2020-06-13T11:41:12Z Increased level of anti-melanoma differentiation-associated protein 5 antibodies human_phenotype HP:0033033 Anti-MDA5 antibodies are myositis-specific autoantibodies, that are specific for clinically amyopathic dermatomyositis (CADM), an uncommon presentation of idiopathic inflammatory myositis, which is associated with rapidly progressive interstitial lung disease. Anti-MDA5 antibody positivity HP:0033033 The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5). PMID:32270621 https://orcid.org/0000-0002-0104-692X The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. 2020-06-13T11:41:12Z human_phenotype HP:0033034 ACPAs are the major autoantibodies in rheumatoid arthritis and are highly specific. They are useful in the diagnosis and in the prediction oft he course and outcome of rheumatoid arthritis. Anti-citrullinated protein antibody positivity HP:0033034 The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. PMID:21713412 PMID:27824549 https://orcid.org/0000-0003-0113-912X Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. 2020-06-13T12:56:23Z Abnormal neurilemmal cell morphology Abnormal neurilemmocyte morphology human_phenotype HP:0033035 Abnormal Schwann cell morphology HP:0033035 Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function. PMID:31760652 https://orcid.org/0000-0002-9553-7227 Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. 2020-06-13T13:07:55Z Low nasal nitric oxide level human_phenotype HP:0033036 Nasal nitric oxide (nNO) is measurable in nasal air and found to be low in cystic fibrosis and very low in primary ciliary dyskinesia. Decreased nasal nitric oxide HP:0033036 Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. PMID:28481653 2020-06-13T13:07:55Z Migratory polyarthritis human_phenotype HP:0033037 A form of arthritis characterized by gradual involvement of several joints, with involvement of some joints occurring following partial or full resolution of arthritis in joints with an earlier onset. Migratory arthritis HP:0033037 A form of arthritis characterized by gradual involvement of several joints, with involvement of some joints occurring following partial or full resolution of arthritis in joints with an earlier onset. PMID:31657698 https://orcid.org/0000-0002-7440-8864 The presence of autoantibodies in the serum that react to RNA-polymerase III. 2020-06-13T13:10:18Z human_phenotype HP:0033038 Anti-RNA-polymerase III-autoantibodies can be detected in patients with systemic sclerosis. Anti-RNA-polymerase-III-autoantibody positivity HP:0033038 The presence of autoantibodies in the serum that react to RNA-polymerase III. PMID:31858335 https://orcid.org/0000-0002-7371-8158 The concentration (titer) of antigen-precipitating IgG in the blood circulation is above the upper limit of normal. 2020-06-14T09:35:49Z Increased level of antigen-precipitating IgG antibodies human_phenotype HP:0033039 An elevated precipitin level does not reflect a general increase in IgG concentration but rather the presence of specific antigen-antibody complexes. Sensitization to inhaled antigens may cause high titers of antigen-precipitating IgGs. Precipitins support the diagnosis of hypersensitivity pneumonitis, also known as extrinsic allergic, in symptomatic individuals. They may also be found in asymptomatic individuals, indicating exposure to a certain antigen. Major antigens causing hypersensitivity pneumonitis are mushrooms, fungi, yeasts, bird proteins, certains chemicals, bacteria or mycobacteria. Increased circulating precipitin concentration HP:0033039 The concentration (titer) of antigen-precipitating IgG in the blood circulation is above the upper limit of normal. PMID:22796841 PMID:26310038 https://orcid.org/0000-0002-7371-8158 The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. 2020-06-14T09:39:52Z Anti-Smith autoantibody human_phenotype HP:0033040 Anti-Sm-autoantibodies are highly specific for systemic lupus erythematosus (SLE). Anti-Sm antibody positivity HP:0033040 The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles. PMID:31552434 https://orcid.org/0000-0002-0104-692X Excessive or uncontrolled release of proinflammatory cytokines. 2020-06-14T10:10:07Z Hypercytokinemia human_phenotype HP:0033041 Cytokines are a diverse group of small proteins that are secreted by cells for the purpose of intercellular signaling and communication. Specific cytokines have autocrine, paracrine, and/or endocrine activity and, through receptor binding, can elicit a variety of responses, depending upon the cytokine and the target cell. Among the many functions of cytokines are the control of cell proliferation and differentiation and the regulation of angiogenesis and immune and inflammatory responses. Inflammation associated with a cytokine storm begins at a local site and spreads throughout the body via the systemic circulation. Rubor (redness), tumor (swelling or edema), calor (heat), dolor (pain), and function laesa (loss of function) are the hallmarks of acute inflammation. While the general concept of an excessive or uncontrolled release of proinflammatory cytokines is well known, a precise definition of what constitutes a cytokine storm is lacking. The first use of cytokine storm appears to be in an article published in 1993 on graft-versus-host disease. Cytokine storm has subsequently been described in patients infected by cytomegalovirus, Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis, group A streptococcus, influenza virus, variola virus, severe acute respiratory syndrome coronavirus (SARS-CoV), avian H5N1 influenza virus, and SARS-CoV-2 Cytokine storm HP:0033041 Excessive or uncontrolled release of proinflammatory cytokines. PMID:22390970 Any structural anomaly of the fetal part of the placenta, which is known as the chorion. 2020-06-14T10:34:07Z human_phenotype HP:0033042 Abnormal chorion morphology HP:0033042 Any structural anomaly of the fetal part of the placenta, which is known as the chorion. PMID:18755720 Swelling of the chorionic villi owing to fluid accumulation. 2020-06-14T10:34:07Z human_phenotype HP:0033043 Edematous chorionic villi HP:0033043 Swelling of the chorionic villi owing to fluid accumulation. PMID:26992676 Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. 2020-06-14T10:46:44Z Regression of motor skills human_phenotype HP:0033044 Motor regression HP:0033044 Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. PMID:27354457 PMID:31737722 A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid). 2020-06-28T10:28:56Z Bipedal oedema human_phenotype HP:0033045 Bipedal edema HP:0033045 Bipedal oedema Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. 2020-06-28T11:15:06Z human_phenotype Malakoplakia HP:0033046 Malakoplakia is a rare chronic inflammation that is characterized microscopically by the accumulation of tissue macrophages containing unique intracytoplasmic calcified inclusion bodies, known as Michaelis-Gutmann bodies. Michaelis-Gutmann bodies HP:0033046 Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria. PMID:28566412 PMID:32509269 Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body. 2020-07-11T10:10:04Z human_phenotype HP:0033047 Body ache HP:0033047 Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). 2020-07-11T10:10:04Z Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) human_phenotype HP:0033048 Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. Substantia nigra hypointensity on susceptibility-weighted imaging HP:0033048 Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). 2020-07-11T10:10:04Z human_phenotype HP:0033049 Susceptibility-weighted imaging (SWI) is a relatively new magnetic resonance (MR) technique that exploits the magnetic susceptibility differences of various tissues, such as blood, iron and calcification, as a new source of contrast enhancement. Low SWI signal intensity may suggest deposition of paramagnetic material. Globus pallidus hypointensity on susceptibility-weighted imaging HP:0033049 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. 2020-07-11T10:10:04Z Pharyngodynia Sore throat Throat discomfort Throat pain human_phenotype HP:0033050 Pharyngalgia HP:0033050 Sore throat Throat discomfort Throat pain A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. 2020-07-11T10:10:04Z human_phenotype HP:0033051 Impaired executive functioning HP:0033051 A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. PMID:28631987 Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously. 2020-07-11T10:47:11Z Functional seizure Psychogenic non-epileptic seizure Psychosomatic seizure human_phenotype HP:0033052 Non-epileptic seizure HP:0033052 Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. 2020-07-11T10:47:11Z human_phenotype HP:0033053 Pseudoseizure HP:0033053 Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges. PMID:23251092 A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. 2020-07-11T11:07:41Z human_phenotype HP:0033054 Myoclonic tremor HP:0033054 A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. PMID:29416935 Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. 2020-07-11T11:19:33Z Ineffective planning human_phenotype HP:0033055 Impaired ability to plan HP:0033055 Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity. NCIT:C121469 PMID:26039846 https://orcid.org/0000-0001-5208-3432 Ineffective planning Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. 2020-07-11T11:22:25Z Impaired ability to organise human_phenotype HP:0033056 Impaired ability to organize HP:0033056 Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine. NCIT:C121469 PMID:26039846 https://orcid.org/0000-0001-5208-3432 Impaired ability to organise Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. 2020-07-25T08:40:27Z Decreased serum terminal complement component human_phenotype HP:0033057 Decreased circulating terminal complement component concentration HP:0033057 Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9. PMID:26841934 Concentration of the complement component C7 in the blood circulation below the lower limit of normal. 2020-07-25T08:40:27Z Decreased serum complement C7 human_phenotype HP:0033058 The complement component C7 is one of the five plasma proteins that interact sequentially to form the lytic membrane attack complex. Decreased circulating complement C7 concentration HP:0033058 Concentration of the complement component C7 in the blood circulation below the lower limit of normal. PMID:17407100 Concentration of the complement component C6 in the blood circulation below the lower limit of normal. 2020-07-25T08:40:27Z human_phenotype HP:0033059 Formation of the MAC is triggered by cleavage of C5 by a C5 convertase, which is followed by sequential interaction of C5b with C6, C7, C8, and C9. Assembly of the MAC on a cellular membrane results in its gradual insertion into the lipid bilayer and the formation of a transmembrane channel, which can kill susceptible cells or transmit activation or apoptotic signals. Decreased circulating complement C6 concentration HP:0033059 Concentration of the complement component C6 in the blood circulation below the lower limit of normal. PMID:10632667 Concentration of the complement component C5 in the blood circulation below the lower limit of normal. 2020-07-25T08:40:27Z Decreased serum complement C5 human_phenotype HP:0033060 Human C5 complement is a plasma glycoprotein (MW:196 kDa) composed of two disulfide-bound polypeptidechains (C5alpha and C5beta). The C5 coding gene is located on chromosome 9q34.1 and spans a genomic region of 79 kb. Its open reading frame,composed of 41 exons, codes for C5alpha (exons 1-16) and C5beta (exons 17-41) and gives rise to a 6 kb mRNA translated into a pre-C5 protein which is processed into the mature, two-chain C5 form by the removal of the RPRR region. Decreased circulating complement C5 concentration HP:0033060 Concentration of the complement component C5 in the blood circulation below the lower limit of normal. PMID:23371790 Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. 2020-07-25T08:40:27Z human_phenotype HP:0033061 Increased factor IX activity HP:0033061 Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. PMID:19846852 Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. 2020-07-25T08:40:27Z human_phenotype HP:0033062 Abnormal factor IX activity HP:0033062 A tendency to sleep fewer hours than usual while feeling well-rested. 2020-07-25T08:40:27Z Short sleep human_phenotype HP:0033063 Shortened sleep phase HP:0033063 A tendency to sleep fewer hours than usual while feeling well-rested. PMID:27743803 Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). 2020-07-25T10:55:24Z human_phenotype HP:0033064 Fabry disease is a rare, progressive lysosomal disorder caused by mutations in the GLA gene. GLA encodes the homodimeric glycoprotein, alpha-galactosidase A, which acts in lysosomes to degrade globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-Gb3). In Fabry disease, the activity of alpha-galactosidase A is deficient or absent, leading to progressive accumulation of glycolipids, primarily GL-3 and lyso-Gb3, in the plasma and numerous cell types throughout the body. Renal interstitial globotriaosylceramide inclusions HP:0033064 Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC). PMID:32606714 The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). 2020-07-25T10:55:24Z human_phenotype HP:0033065 Mild albuminuria HP:0033065 The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol). PMID:30571025 The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). 2020-07-25T10:55:24Z Heavy albuminuria human_phenotype HP:0033066 Severe albuminuria HP:0033066 The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol). PMID:30571025 2020-07-25T10:55:24Z human_phenotype HP:0033067 Cystine crystals precipitate as symmetrical hexagons, mostly aggregated, and are constantly birefringent. They are typical of patients with cystinuria, but to find them the urine pH must be lowered to 4.0 with glacial acetic acid and stored overnight at 4 degrees C. Cystine crystalluria HP:0033067 Cystine crystals precipitate as symmetrical hexagons, mostly aggregated, and are constantly birefringent. They are typical of patients with cystinuria, but to find them the urine pH must be lowered to 4.0 with glacial acetic acid and stored overnight at 4 degrees C. PMID:8671802 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usually favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. 2020-07-25T10:55:24Z human_phenotype HP:0033068 Medication crystalluria HP:0033068 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usually favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance. PMID:8671802 An increased number of IgG4+ plasma cells in the interstitial space of the kidney. 2020-07-25T11:24:32Z human_phenotype HP:0033069 IgG4-related tubulointerstitial nephritis is characterized by an increased number of IgG4+ plasma cells per high-power field on renal biopsy in addition to either elevated serum IgG4 or evidence of extra renal IgG4-related disease. Renal interstitial IgG4+ plasma cell infiltration HP:0033069 An increased number of IgG4+ plasma cells in the interstitial space of the kidney. PMID:21719792 PMID:29359118 Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. 2020-07-25T12:13:49Z human_phenotype HP:0033070 Impaired self monitoring HP:0033070 Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior. NCIT:C121466 PMID:26039846 Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. 2020-07-25T12:13:49Z human_phenotype HP:0033071 Impaired task monitoring HP:0033071 Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal. NCIT:C121470 PMID:26039846 Anomalous physical appearance (color, cloudiness, clarity) or odor of urine. 2020-07-25T13:24:27Z human_phenotype HP:0033072 Abnormal macroscopic urine appearance HP:0033072 Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. 2020-07-25T13:24:27Z Urate tophi human_phenotype HP:0033073 Urate tophus HP:0033073 Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi. PMID:9195521 Urate tophi Amelioration of anemia upon treatment with a steroid medication. 2020-07-25T13:30:30Z Prednisone-responsive anaemia Prednisone-responsive anemia Steroid-responsive anaemia human_phenotype HP:0033074 Steroid-responsive anemia HP:0033074 Amelioration of anemia upon treatment with a steroid medication. PMID:20651069 Prednisone-responsive anaemia Steroid-responsive anaemia A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. 2020-07-26T09:23:47Z Inappropriately normal TSH human_phenotype HP:0033075 Inappropriately normal TSH may reflect a laboratory error, binding protein abnormalities leading to apparent elevation of FT4 (e.g. familial dysalbuminemic hyperthyroxinemia), antibody interference with measurements of FT4, FT3 or TSH, TSH-secreting pituitary tumor (TSHoma) or a syndrome of thyroid hormone resistance. Inappropriately normal thyroid-stimulating hormone level HP:0033075 A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. PMID:12519407 PMID:28932413 Inappropriately normal TSH A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. 2020-07-26T09:23:47Z Abnormal circulating free T4 level Abnormal circulating free thyroxine level human_phenotype HP:0033076 Abnormal circulating free T4 concentration HP:0033076 A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. PMID:30725738 An elevated concentration of free thyroxine (fT4) in the blood circulation. 2020-07-26T09:23:47Z Increased circulating free T4 level human_phenotype HP:0033077 Increased circulating free T4 concentration HP:0033077 A reduced concentration of free thyroxine (fT4) in the blood circulation. 2020-07-26T09:23:47Z Decreased circulating free T4 level human_phenotype HP:0033078 Decreased circulating free T4 concentration HP:0033078 Absence or underdevelopment of the thyroid gland. 2020-07-26T09:23:47Z human_phenotype HP:0033079 Aplasia/Hypoplasia of the thyroid gland HP:0033079 Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test. 2020-07-26T10:01:11Z Abnormal TSH response to TRH stimulation test human_phenotype HP:0033080 Abnormal TSH response to thyrotrophin-releasing hormone stimulation test HP:0033080 Failure to increase serum TSH levels in response to a TRH stimulation test. 2020-07-26T10:01:11Z human_phenotype HP:0033081 Absent TSH response to thyrotrophin-releasing hormone stimulation test HP:0033081 Failure to increase serum TSH levels in response to a TRH stimulation test. PMID:29935915 A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. 2020-07-26T10:01:11Z human_phenotype HP:0033082 Reduced TSH response to thyrotrophin-releasing hormone stimulation test HP:0033082 An elevated level of farnesol in the blood circulation. 2020-07-26T10:38:52Z human_phenotype HP:0033083 Farnesol is a farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1. Its concentration in the blood circulation is increased in inherited squalene synthase deficiency. Increased circulating farnesol concentration HP:0033083 An elevated level of farnesol in the blood circulation. PMID:29909962 Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve. 2020-07-27T08:42:42Z human_phenotype HP:0033084 Abnormal antral follicle count HP:0033084 A count of antral follicles that is lower than normal for age. 2020-07-27T08:42:42Z human_phenotype HP:0033085 Reduced antral follicle count HP:0033085 A count of antral follicles that is lower than normal for age. PMID:30010909 A count of antral follicles that is higher than normal for age. 2020-07-27T08:42:42Z human_phenotype HP:0033086 Increased antral follicle count HP:0033086 A count of antral follicles that is higher than normal for age. PMID:32656532 Fever that occurs at daily intervals. 2020-07-27T08:42:42Z human_phenotype HP:0033087 Quotidian fever HP:0033087 Fever that occurs at daily intervals. PMID:28546530 Urine valine level above the normal range. 2020-07-30T06:50:05Z Increased valine in urine human_phenotype HP:0033088 Valinuria HP:0033088 Urine valine level above the normal range. HPO_CONTRIBUTOR:NSTRN_jmiller An increased level of a branched chain family amino acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033089 Branched-chain aminoaciduria HP:0033089 An elevated level of an aromatic amino acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033090 Increased aromatic amino acid level in urine HP:0033090 An abnormally increased level of tyrosine in the urine. 2020-08-17T16:35:12Z Increased tyrosine in urine human_phenotype HP:0033091 Tyrosinuria HP:0033091 The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. 2020-08-17T16:35:12Z human_phenotype HP:0033092 Succinate is a Krebs cycle metabolite that is able to modulate inflammatory responses. Increased urine succinate level HP:0033092 The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:32942769 An elevated level of an glutamine family amino acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033093 Increased glutamine family amino acid level in urine HP:0033093 An increased concentration of glutamate in the urine. 2020-08-17T16:35:12Z Increased glutamic acid in urine human_phenotype HP:0033094 Increased urine glutamate level HP:0033094 An elevated level of a sulfur-containing amino acid in the urine. 2020-08-17T16:35:12Z Increased sulfur-containing amino acid level in urine Increased sulphur amino acid level in urine human_phenotype HP:0033095 Increased sulfur amino acid level in urine HP:0033095 Increased sulphur amino acid level in urine An elevated level of an aspartate family amino acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033096 Increased aspartate family amino acid level in urine HP:0033096 An elevated urine level of a compound that is derived from an amino acid. 2020-08-17T16:35:12Z human_phenotype HP:0033097 Increased urine proteinogenic amino acid derivative level HP:0033097 An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. 2020-08-17T16:35:12Z HP:0034027 Abnormal urinary non-proteinogenic amino acid level Elevated urinary non-proteinogenic amino acid level human_phenotype HP:0033098 Increased urinary non-proteinogenic amino acid level HP:0033098 An increased level of a serine family amino acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033099 Increased serine family amino acid in urine HP:0033099 An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. 2020-08-17T16:35:12Z human_phenotype HP:0033100 Increased proteinogenic amino acid level in urine HP:0033100 An abnormally increased level of aconitic acid in the urine. 2020-08-17T16:35:12Z human_phenotype HP:0033101 Elevated urine aconitic acid level HP:0033101 An abnormally increased level of aconitic acid in the urine. PMID:30830355 The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. 2020-08-25T18:38:39Z Monkey wrench appearance of femoral neck Monkey wrench configuration of the proximal femur Swedish key appearance of femoral neck Swedish key configuration of the proximal femur human_phenotype HP:0033102 Monkey wrench femoral neck HP:0033102 The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. PMID:7977470 The concentration of CHI3L1 in the blood circulation is above the upper limit of normal. 2020-08-29T08:40:26Z Elevated chitinase-3-like protein 1 concentration Elevated chitinase-3-like protein 1 level Elevated chitinase-3-like protein 1 level in blood Elevated circulating CHI3L1 concentration Elevated circulating YKL40 level Elevated circulating chitinase 3-like 1 level Increased chitinase-3-like protein 1 concentration Increased chitinase-3-like protein 1 level Increased chitinase-3-like protein 1 level in blood human_phenotype HP:0033103 Chitinase 3-like 1 (CHI3L1; previously known as YKL-40) is a glycoprotein with homology to the chitinase protein family, but without chitinase activity. Elevations of serum CHI3L1 can be measured by ELISA and are related to some kinds of bone disease. Elevated circulating CHI3L1 concentration HP:0033103 Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. 2020-08-29T13:06:30Z human_phenotype HP:0033104 The induction and maintenance of fever during infection involves the tightly coordinated interplay between the innate immune system and neuronal circuitry within the central and peripheral nervous systems. Some diseases (such as Hyper-IgE recurrent infection syndrome 5, autosomal recessive, which is due to IL6R mutation) are associated with a lack of clinically adequate inflammatory response in the face of marked infection. Inappropriate absence of fever HP:0033104 Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. PMID:31235509 An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. 2020-08-29T11:25:49Z Hypothalamic adhesion human_phenotype HP:0033105 The appearance of the interhypothalamic adhesions visible in the sagittal plane as an additional small ovoid structure between the fornices and lamina terminalis, centered near the level of the midbrain cranial margin. Anatomically, this location corresponds to the anterior and tuberalis regions of the periventricular hypothalamus. Interhypothalamic adhesion HP:0033105 An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. PMID:24874532 An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. 2020-08-29T11:29:26Z Elevated D-dimers Elevated fibrin degradation fragment concentration human_phenotype HP:0033106 The D-dimer antigen is a unique marker of fibrin degradation that is formed by the sequential action of 3 enzymes: thrombin, factor XIIIa, and plasmin. First, thrombin cleaves fibrinogen producing fibrin monomers, which polymerize and serve as a template for factor XIIIa and plasmin formation. Second, thrombin activates plasma factor XIII bound to fibrin polymers to produce the active transglutaminase, factor XIIIa. Factor XIIIa catalyzes the formation of covalent bonds between D-domains in the polymerized fibrin. Finally, plasmin degrades the crosslinked fibrin to release fibrin degradation products and expose the D-dimer antigen. D-dimer measurement has been most comprehensively validated in (1) the exclusion of venous thromboembolism (VTE) in certain patient populations and (2) the diagnosis and monitoring of coagulation activation in disseminated intravascular coagulation. Abnormal D-dimer in the appropriate clinical context denotes that there is no major ongoing activation of intravascular coagulation, and serves as a reliable tool for the exclusion of VTE. Elevated circulating D-dimer concentration HP:0033106 An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. PMID:19008457 Any deviation from the normal concentration of proteinogenic amino acid in the blood circulation. 2020-08-29T11:59:15Z Abnormal circulating proteinogenic amino acid concentration Abnormal proteinogenic amino acid level human_phenotype HP:0033107 Proteinogenic amino acids are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Abnormal circulating proteinogenic amino acid concentration HP:0033107 Any deviation from the normal concentration of proteinogenic amino acid derivative in the blood circulation. 2020-08-29T12:01:40Z Abnormal circulating proteinogenic amino acid derivative concentration Abnormal proteinogenic amino acid derivative level human_phenotype HP:0033108 Abnormal circulating proteinogenic amino acid derivative concentration HP:0033108 Any deviation from the normal concentration in the blood circulation of an alpha-amino acid that is not a member of the group of 23 proteinogenic amino acids. 2020-08-29T12:04:47Z Abnormal circulating non-proteinogenic amino acid concentration Abnormal non-proteinogenic amino acid level human_phenotype HP:0033109 Abnormal circulating non-proteinogenic amino acid concentration HP:0033109 An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. 2020-08-29T12:06:38Z Elevated circulating homoalanine concentration human_phenotype HP:0033110 Elevated circulating alpha-aminobutyric acid concentration HP:0033110 An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2. PMID:30561103 Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. 2020-08-29T12:10:59Z Increased urine 3-hydroxyisovaleric acid level human_phenotype HP:0033111 3-hydroxyisovaleric aciduria HP:0033111 Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. PMID:29844061 The concentration of apolipoprotein C-III in the blood circulation is above the upper limit of normal. 2020-08-30T11:30:35Z Elevated APOC3 level Elevated apolipoprotein C-III concentration Elevated apolipoprotein C-III level Elevated apolipoprotein C-III level in blood Elevated circulating apolipoprotein C-III concentration Increased apolipoprotein C-III concentration Increased apolipoprotein C-III level Increased apolipoprotein C-III level in blood human_phenotype HP:0033112 Elevated circulating apolipoprotein C-III concentration HP:0033112 Elevated APOC3 level In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. 2020-08-30T11:33:21Z Triple rhythm human_phenotype HP:0033113 Gallop rhythm HP:0033113 In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse. PMID:15886379 A type of gallop rhythm in which both the third and the fourth sounds are present. 2020-08-30T12:35:42Z human_phenotype HP:0033114 Quadruple gallop rhythm HP:0033114 A type of gallop rhythm in which both the third and the fourth sounds are present. PMID:15886379 The concentration of tenascin-C in the blood circulation is above the upper limit of normal. 2020-09-03T11:21:59Z human_phenotype HP:0033115 Tenascin-C is a pro-inflammatory glycoprotein. The expression of tenascin-C in adults is limited to the site of tissue injury, usually temporary, and the expression level of tenascin-C returns to normal after tissue repair is completed. In contrast, the sustained high expression of tenascin-C is common in inflammation, tissue remodeling, and autoimmune diseases. Elevated serum tenascin-C may be associated with severity and poor prognosis in septic patients. Elevated circulating tenascin-C concentration HP:0033115 Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. 2020-09-03T11:59:20Z human_phenotype HP:0033116 Despite structural analogy, the epithelium in the duodenal gastric metaplasia (DGM) differs from true gastric epithelium with respect to lectin composition. DGM is considered to be an acquired condition related to gastric acid injury and H pylori may also be associated in its pathogenesis Duodenal gastric metaplasia HP:0033116 Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border. PMID:16679353 Inflammation of the lining of the upper small intestine (duodenum). 2020-09-03T12:01:20Z Duodenal inflammation human_phenotype HP:0033117 The diagnosis of duodenitis is made when there is infiltration by inflammatory cells with changes in villous architecture and surface and crypt epithelium. Duodenitis can be graded according to the amount of neutrophilic and plasma cell infiltration, villous height, Brunner's gland hyperplasia with prolapse into the lamina propria and gastric metaplasia. Duodenitis HP:0033117 Inflammation of the lining of the upper small intestine (duodenum). PMID:16679353 Anomalous physiology (function) of the right ventricle. 2020-09-03T12:06:13Z human_phenotype HP:0033118 Abnormal right ventricular function HP:0033118 Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. 2020-09-03T12:08:23Z human_phenotype HP:0033119 In the absence of right ventricular (RV) outflow tract obstruction, RV systolic pressure is equal to pulmonary artery systolic pressure. The gold standard for the measurement of PH is right heart catheterization, but this is invasive with the inherent risk of complications. Echocardiography has been touted as providing an accurate measurement of the right ventricular systolic pressure based on the estimated flow of the tricuspid regurgitant jet. Elevated right ventricular systolic pressure HP:0033119 Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg. PMID:18619825 A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet 2020-09-03T12:14:32Z Discoid eczema Nummular dermatitis human_phenotype HP:0033120 Nummular eczema HP:0033120 A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet PMID:26091664 A cough with a characteristic sound that has been compared to a seal's bark. 2020-09-03T12:36:41Z Seal-like barking cough human_phenotype HP:0033121 Barking cough HP:0033121 A cough with a characteristic sound that has been compared to a seal's bark. PMID:16936230 PMID:28613724 The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. 2020-09-05T12:45:02Z Absence of P wave on electrocardiography human_phenotype HP:0033122 Absent P wave can be observed with conditions including atrial fibrillation and sinoatrial arrest, Absent P wave HP:0033122 The concentration of osteopontin in the blood circulation is above the upper limit of normal. 2020-09-05T12:56:32Z Elevated circulating osteopontin concentration Elevated osteopontin concentration Elevated osteopontin level Elevated osteopontin level in blood Increased osteopontin concentration Increased osteopontin level Increased osteopontin level in blood human_phenotype HP:0033123 Osteopontin (OPN, also known as Eta-1) is a noncollagenous matrix protein produced by macrophages and T lymphocytes. Plasma OPN levels can be elevated in a range of diseases including tuberculosis and systemic lupus erythematosus. Elevated circulating osteopontin concentration HP:0033123 An concentration of sorbitol in the blood circulation is above the upper limit of normal. 2020-09-05T13:02:12Z Increased serum sorbitol concentration human_phenotype HP:0033124 Elevated circulating sorbitol concentration HP:0033124 An concentration of sorbitol in the blood circulation is above the upper limit of normal. PMID:32367058 An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. 2020-09-05T13:05:21Z human_phenotype HP:0033125 Follicular lymphoma HP:0033125 An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement. NCIT:C3209 PMID:29314206 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin or as slough (dead tissue, usually cream or yellow in colour). 2020-09-05T13:12:04Z Skin necrosis Skin necrotic patch human_phenotype HP:0033126 Cutaneous necrosis HP:0033126 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin or as slough (dead tissue, usually cream or yellow in colour). PMID:16455730 PMID:28470091 An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. 2020-09-05T13:35:03Z human_phenotype HP:0033127 Abnormality of the musculoskeletal system HP:0033127 A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. 2020-09-05T13:40:32Z human_phenotype HP:0033128 Delayed ability to crawl HP:0033128 Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm. 2020-09-05T13:42:07Z human_phenotype HP:0033129 Abnormal shoulder physiology HP:0033129 Anomalous echogenicity of the kidney on ultrasound examination. 2020-09-09T12:48:13Z human_phenotype HP:0033130 For diagnostic ultrasonography, high-frequency sound waves are generated and received by the ultrasonography transducer, which is placed on the skin. Returning sound waves (echoes) are processed by a computer and displayed on a computer screen. A gray-scale image is produced when the ultrasonography machine operates in B-mode, or brightness mode, in which returning echoes are represented as bright dots; the brightness of the dots represents the strength of the reflected echoes. Echogenicity, therefore, refers to how bright or dark something appears in the gray-scale image; the brighter something appears, the more echogenic it is. With regard to the kidney, echogenicity generally refers to how bright or dark the kidney parenchyma appears in comparison to the liver. Abnormal renal echogenicity HP:0033130 Anomalous echogenicity of the kidney on ultrasound examination. PMID:24235286 Increased echogenecity of the medullary region of the kidney. 2020-09-09T12:57:19Z Increased renal medullary echogenicity human_phenotype HP:0033131 Increased echogenicity of the kidney parenchyma results from the increased presence of material that can reflect sound waves back, thus increasing its brightness on the ultrasonography image. Because fibrous tissue (e.g., glomerulosclerosis, interstitial fibrosis) increases echogenicity, CKD is typically associated with increased echogenicity. Inflammatory infiltrates may explain the increased echogenicity that occurs with acute interstitial nephritis and GN. Proteinaceous casts are thought to cause the increased echogenicity associated with acute tubular necrosis (ATN). Calcium deposits and stones are very echogenic; thus, medullary nephrocalcinosis is characterized by increased medullary echogenicity and a relatively normal-appearing cortex. Several renal diseases are associated with medullary nephrocalcinosis, including medullary sponge kidney, hyperparathyroidism, renal tubular acidosis, and vitamin D toxicity. Other kidney diseases that have been associated with a hyperechoic medulla include sickle cell disease and gout Renal medullary hyperechogenicity HP:0033131 Increased echogenecity of the medullary region of the kidney. PMID:24235286 Increased echogenecity of the kidney cortex. 2020-09-09T13:01:52Z human_phenotype HP:0033132 Renal cortical hyperechogenicity HP:0033132 Increased echogenecity of the kidney cortex. PMID:24235286 2020-09-09T13:03:25Z Hypoechogenic renal cortex human_phenotype HP:0033133 Renal cortical hypoechogeneity HP:0033133 Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). 2020-09-09T13:12:30Z Intra-abdominal adhesion human_phenotype HP:0033134 Abdominal adhesions typically form after abdominal surgery but may also occur secondary to inflammatory conditions of the abdomen in the absence of prior abdominal surgery or as a sequela of abdomino-pelvic radiation. Although the majority of patients with intra-abdominal adhesions remain asymptomatic, a clinically significant subset of patients will develop adhesive disease, a symptomatic state ranging from mild and/or vague to highly distressing and even life-threatening symptoms. Abdominal adhesions HP:0033134 Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). PMID:28203370 Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. 2020-09-09T13:23:04Z human_phenotype HP:0033135 Hepatic infarction is infrequent due to the dual blood supply of the liver and the compensatory relationship between the hepatic artery and portal vein. Hepatic infarction HP:0033135 Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography. PMID:30666665 An inflamed lymph node that is filled with pus. 2020-09-09T13:33:39Z human_phenotype HP:0033136 Lymph node abscess HP:0033136 A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. 2020-09-09T13:40:22Z human_phenotype HP:0033137 Abnormal pulmonary alveolar system morphology HP:0033137 A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli. https://orcid.org/0000-0003-0113-912X A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. 2020-09-09T13:51:57Z human_phenotype HP:0033138 Right atrial thrombus HP:0033138 A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart. PMID:28127133 Concentration of uracil in the blood circulation is above the normal range. 2020-09-09T13:56:10Z human_phenotype HP:0033139 Elevated circulating uracil concentration HP:0033139 The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. 2020-09-12T15:35:37Z human_phenotype HP:0033140 Blake's pouch cyst HP:0033140 The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. PMID:25970099 Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. 2020-09-15T10:19:28Z Disseminated COVID-19 Invasive COVID-19 Severe COVID-19 human_phenotype HP:0033141 Severe SARS-CoV-2 infection HP:0033141 Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. PMID:32706371 Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. 2020-09-15T10:21:30Z human_phenotype HP:0033142 Long nasal bridge HP:0033142 Inflammation of the lining of the middle section of the small intestine. 2020-09-15T10:25:52Z human_phenotype HP:0033143 Jejunitis HP:0033143 Inflammation of the lining of the middle section of the small intestine. PMID:26420973 Any deviation from the normal concentration of ceruloplasmin in the blood circulation. 2020-09-15T11:10:40Z Abnormal ceruloplasmin level Abnormal circulating ceruloplasmin concentration human_phenotype HP:0033144 Ceruloplasmin is a serum ferroxidase responsible for 90 percent of copper transport. Also, ceruloplasmin is a positive acute-phase reactant, meaning its levels will increase in inflammatory conditions or cell injury. Abnormal circulating ceruloplasmin concentration HP:0033144 The concentration of ceruloplasmin in the blood circulation is above the upper limit of normal. 2020-09-15T11:16:39Z Elevated ceruloplasmin concentration Elevated ceruloplasmin level Elevated ceruloplasmin level in blood Elevated circulating ceruloplasmin concentration Increased ceruloplasmin concentration Increased ceruloplasmin level Increased ceruloplasmin level in blood human_phenotype HP:0033145 Elevated circulating ceruloplasmin concentration HP:0033145 Increased concentration of methylsuccinic acid in the blood circulation. 2020-09-19T11:29:53Z human_phenotype HP:0033146 Elevated circulating methylsuccinic acid concentration HP:0033146 Increased concentration of methylsuccinic acid in the blood circulation. PMID:29909962 Any deviation from the normal concentration of short-chain fatty acid in the blood circulation. 2020-09-19T11:37:22Z Abnormal circulating short-chain fatty-acid concentration Abnormal short-chain fatty acid level human_phenotype HP:0033147 A short-chain fatty acid is defined as n aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. Abnormal circulating short-chain fatty acid concentration HP:0033147 Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. 2020-09-19T11:42:45Z Increased circulating isovalerate Isovalericacidemia human_phenotype HP:0033148 In individuals with the disease isovaleric acidemia (OMIM:243500), free isovaleric acid in blood during episodes of acute metabolic decompensation can reach several hundred times normal values but is not readily seen in blood and urine due to its rapid conjugation to other compounds. Thus, isovalerylcarnitine and isovalerylglycine are the hallmarks of this disorder in plasma and urine, respectively, and are elevated regardless of the metabolic condition of the affected individual. Increased circulating isovaleric acid concentration HP:0033148 Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration. PMID:16602101 Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). 2020-09-19T12:51:16Z Dilatation of intrahepatic biliary ducts human_phenotype HP:0033149 Intrahepatic bile duct dilatation HP:0033149 Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). PMID:32386558 An abscess located at the junction of the anal canal and the rectum. 2020-09-20T11:07:40Z human_phenotype HP:0033150 Anorectal abscess HP:0033150 A structural anomaly of the pharynx. 2020-09-20T11:17:40Z human_phenotype HP:0033151 Abnormal pharynx morphology HP:0033151 A functional anomaly of the pharynx. 2020-09-20T11:18:32Z human_phenotype HP:0033152 Abnormal pharynx physiology HP:0033152 An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation. 2020-09-19T12:32:07Z Elevated plasma dodecenoylcarnitine concentration human_phenotype HP:0033153 Elevated circulating dodecenoylcarnitine concentration HP:0033153 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation. 2020-09-20T11:19:47Z human_phenotype HP:0033154 Pyridinoline cross-links contribute to the structural rigidity and integrity of collagen fibrils in bone. When bone resorption occurs, osteoclastic degradation of bone matrix releases pyridinoline and deoxypyridinoline into the circulation; these compounds are then excreted in urine. Measurements of urinary elimination of these compounds may provide useful information on the change of bone resorption. Elevated circulating deoxypyridinoline concentration HP:0033154 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation. PMID:12661898 Abnormally increased concentration of L-alloisoleucine in the blood circulation. 2020-09-20T11:33:58Z human_phenotype HP:0033155 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. Elevated circulating L-alloisoleucine concentration HP:0033155 Abnormally increased concentration of L-alloisoleucine in the blood circulation. PMID:10508118 PMID:28919799 Abnormally increased level of L-alloisoleucine in the urine. 2020-09-20T12:04:00Z human_phenotype HP:0033156 Elevated alloisoleucine in serum or urine is characteristic of Maple syrup urine disease. Elevated urine L-alloisoleucine level HP:0033156 Abnormally increased level of L-alloisoleucine in the urine. PMID:28919799 Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. 2020-09-20T12:20:55Z human_phenotype HP:0033157 The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. Elevated circulating 3-methylhistidine concentration HP:0033157 Abnormal increase of the concentration of 3-methylhistidine in the blood circulation. PMID:6780020 An abnormal reduction in the number of beats per unit time of the respiratory cilia. 2020-09-20T13:24:25Z Dminished respiratory ciliary beat frequency human_phenotype HP:0033158 Respiratory cilia beat in a coordinated manner with a specific frequency and pattern, clearing mucus and debris from the airways. In primary ciliary dyskinesia cilia are either stationary or beat in a slow or dyskinetic fashion. Impaired mucociliary clearance in these patients is associated with recurrent chest infections, which may lead to bronchiectasis and sinusitis. The diagnosis of primary ciliary dyskinesia is made on the basis of a supportive clinical history and an abnormal ciliary beat frequency accompanied in most cases by specific abnormalities of the ciliary axoneme on electron microscopy. Reduced respiratory ciliary beating frequency HP:0033158 An abnormal reduction in the number of beats per unit time of the respiratory cilia. PMID:10722772 The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. 2020-09-24T09:10:03Z human_phenotype HP:0033159 Reduced urinary inosine level HP:0033159 The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. PMID:402573 The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond. 2020-09-24T09:11:27Z human_phenotype HP:0033160 Decreased urinary guanosine level HP:0033160 Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines. 2020-09-24T09:13:18Z human_phenotype HP:0033161 Abnormal urinary purine level HP:0033161 Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines. 2020-09-24T09:15:07Z human_phenotype HP:0033162 Abnormal urinary pyrimidine level HP:0033162 An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. 2020-09-24T09:20:07Z human_phenotype HP:0033163 Small intestinal bacterial overgrowth HP:0033163 An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml. PMID:20572300 Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. 2020-09-24T09:27:12Z human_phenotype HP:0033164 Focal crypt injury by neutrophils (cryptitis/crypt abscesses), or focal active colitis (FAC), is a common isolated finding in endoscopic colorectal biopsies. Focal active colitis is often thought of as a feature of Crohn's disease, but may also be seen in ischemia, infections, partially treated ulcerative colitis, and as an isolated finding in patients undergoing endoscopy to exclude neoplasia. Focal active colitis HP:0033164 Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation. PMID:21880133 PMID:29254324 PMID:9191008 Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. 2020-09-24T09:32:06Z human_phenotype HP:0033165 Necrotizing enterocolitis almost exclusively affects neonates. Necrotizing enterocolitis HP:0033165 Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. PMID:30020729 An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). 2020-09-24T09:36:07Z human_phenotype HP:0033166 Recurrent viral upper respiratory tract infections HP:0033166 An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). PMID:30422556 A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. 2020-09-24T09:39:14Z human_phenotype HP:0033167 Neutrophilic urticarial dermatosis is typically accompanied by systemic symptoms including fever and arthralgias. Neutrophilic urticarial dermatosis HP:0033167 A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present. PMID:32490121 Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. 2020-09-24T09:42:41Z human_phenotype HP:0033168 Reduced mevalonate kinase activity HP:0033168 Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids. PMID:27499643 https://orcid.org/0000-0003-3411-9598 Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. 2020-09-24T10:13:03Z Reduced TLC human_phenotype HP:0033169 Reduced total lung capacity HP:0033169 Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration. PMID:28194273 Reduced TLC Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. 2020-09-24T10:24:44Z human_phenotype HP:0033170 Abnormal skinfold thickness measurement HP:0033170 Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. PMID:7492193 Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. 2020-09-24T10:27:54Z human_phenotype HP:0033171 Abnormal triceps skinfold thickness HP:0033171 Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers. PMID:27669294 Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. 2020-09-24T10:29:17Z human_phenotype HP:0033172 Increased triceps skinfold thickness HP:0033172 Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased. PMID:27669294 Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. 2020-09-24T10:42:34Z human_phenotype HP:0033173 This feature is characteristically observed in pulmonary alveolar proteinosis. Milky appearance of bronchoalveolar lavage fluid HP:0033173 Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space. PMID:26110014 PMID:28771412 https://orcid.org/0000-0003-0113-912X Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. 2020-09-24T10:47:02Z human_phenotype HP:0033174 Bloody bronchoalveolar lavage fluid HP:0033174 Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding. https://orcid.org/0000-0003-0113-912X Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal. 2020-09-24T10:49:50Z Elevated circulating L-pyroglutamic acid concentration human_phenotype HP:0033175 5-oxoproline is an oxoproline having the oxo group placed at the 5-position. It is an intermediate metabolite in the glutathione cycle. Elevated circulating 5-oxoproline concentration HP:0033175 Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal. PMID:8789605 Increased size of the lymph nodes that are located beneath the mandible (lower jaw). 2020-09-25T12:46:03Z Submandibular lymphadenopathy human_phenotype HP:0033176 Submandibular lymph node enlargement HP:0033176 An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. 2020-09-25T12:49:42Z human_phenotype HP:0033177 Elevated circulating suberic acid concentration HP:0033177 An increased concentration of interleukin-8 in the circulation. 2020-09-28T22:05:51Z Increased serum IL-8 Increased serum interleukin 8 Increased serum interleukin-8 human_phenotype HP:0033178 IL-8 is a chemokine that acts as a chemotactic factor secreted by activated monocytes and macrophages that promotes the directional migration of neutrophils, basophils, and T lymphocytes. Increased circulating interleukin 8 concentration HP:0033178 An increased concentration of interleukin-8 in the circulation. PMID:15831231 Concentration of aconitic acid in the blood circulation above the upper limit of normal. 2020-09-28T22:12:56Z human_phenotype HP:0033179 Elevated circulating aconitic acid concentration HP:0033179 The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. 2020-09-28T22:15:53Z Twisted vestigial remnant of the Muellerian duct human_phenotype HP:0033180 Torsion of appendix of testis HP:0033180 The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention. PMID:31550101 https://orcid.org/0000-0002-8169-9049 Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. 2020-09-28T22:20:47Z A severe pyogenic infection of the epidural space human_phenotype HP:0033181 Left untreated, the infection can lead to sensory loss, muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit morbidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnostic challenge associated with SEA. Spinal epidural abscess HP:0033181 Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. PMID:24007734 PMID:26540492 An increase in concentration of cathepsin D in the blood circulation. 2020-09-28T22:29:16Z human_phenotype HP:0033182 Increased circulating cathepsin D level HP:0033182 An increase in concentration of cathepsin D in the blood circulation. PMID:26995190 A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. 2020-10-04T11:44:07Z human_phenotype HP:0033183 The normal anatomy of the right lung comprises three lobes: the upper, middle, and lower lobes, and that of the left lung consists of two lobes: the upper and lower lobes. Bilobed right lung HP:0033183 A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. PMID:19500772 2020-10-04T11:47:16Z human_phenotype HP:0033184 Applies to a sign or symptom that is provoked or brought about by an infection, that is by invasion and multiplication of microorganisms such as bacteria, viruses, and parasites that are not normally present within the body. Triggered by infection HP:0033184 Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. 2020-10-04T11:48:39Z Triggered by Epstein Barr virus infection human_phenotype HP:0033185 Triggered by EBV infection HP:0033185 Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus. PMID:19425169 The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. 2020-10-04T11:50:58Z human_phenotype HP:0033186 Misalignment of the pulmonary veins HP:0033186 The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. PMID:19500772 PMID:25052575 PMID:27071622 Elevated levels of proline-containing dipeptides in urine. 2020-10-04T11:55:48Z Imidodipeptiduria human_phenotype HP:0033187 Prolidase splits dipeptides containing C-terminal proline or hydroxyproline. In prolidase deficiency, normal recycling of proline cannot occur, and this leads to iminopeptiduria, the characteristic biochemical abnormality. Glycylproline is the major urinary imidodipeptide. Leucylproline can also be identified in persons with prolidase deficiency. Hyperimidodipeptiduria HP:0033187 Elevated levels of proline-containing dipeptides in urine. PMID:9196362 A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. 2020-10-04T12:02:47Z human_phenotype HP:0033188 Cystic acne HP:0033188 A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. PMID:9212761 Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. 2020-10-04T12:04:47Z Long dental root Rhizomegaly Root gigantism human_phenotype HP:0033189 Radiculomegaly HP:0033189 Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. PMID:29574060 PMID:31468724 A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. 2020-10-04T12:07:25Z Cutaneous hyperpigmentation with overlying hypertrichosis human_phenotype HP:0033190 Hypertrichotic hyperpigmented patch HP:0033190 A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. PMID:18410979 An increased concentration of selenium in the blood circulation. 2020-10-04T12:16:23Z human_phenotype HP:0033191 Increased circulating selenium concentration HP:0033191 An increased concentration of selenium in the blood circulation. PMID:25519493 An abnormally reduced concentration of selenium in the blood circulation. 2020-10-04T12:17:32Z human_phenotype HP:0033192 Decreased circulating selenium concentration HP:0033192 An abnormally reduced concentration of selenium in the blood circulation. PMID:25519493 Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. 2020-10-10T15:47:08Z Ballooning degeneration of hepatocytes human_phenotype HP:0033193 Mallory-Denk bodies are inclusions found within the cytoplasm of ballooned hepatocytes that are composed of cytokeratin filaments, they have a twisted-rope appearance. Ballooning hepatocyte degeneration HP:0033193 Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. PMID:31603713 PMID:31885839 Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. 2020-10-10T15:50:36Z human_phenotype HP:0033194 Perioral erythema HP:0033194 Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. 2020-10-10T15:51:04Z human_phenotype HP:0033195 Perianal erythema HP:0033195 Infiltration of portal fields by inflammatory cells. 2020-10-11T12:07:59Z Hepatic portal inflammation human_phenotype HP:0033196 In nonalcoholic fatty liver disease, portal inflammation is comprised of cells referred to as chronic, i.e. lymphocytes, plasma cells, occasional eosinophils, monocytes. Portal inflammation HP:0033196 Infiltration of portal fields by inflammatory cells. PMID:16939061 PMID:19142989 Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). 2020-10-11T12:10:39Z human_phenotype HP:0033197 Each liver lobule is hexagonal in cross section and is centered on the central vein (the central veins are branches of the hepatic vein). Within lobules, hepatocytes are arranged into hepatic cords separated by adjacent sinusoids. Hepatic lobular inflammation HP:0033197 Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes). PMID:31583739 Applies to a sign or symptom that is provoked or brought about by infection by a virus. 2020-10-11T12:16:45Z human_phenotype HP:0033198 Triggered by viral infection HP:0033198 An elevation of the concentration of interleukin 10 in the blood circulation. 2020-10-11T12:18:51Z Increased serum interleukin 10 human_phenotype HP:0033199 IL-10 is an anti-inflammatory cytokine. During infection it inhibits the activity of Th1 cells, NK cells, and macrophages, all of which are required for optimal pathogen clearance but also contribute to tissue damage. In consequence, IL-10 can both impede pathogen clearance and ameliorate immunopathology. Increased circulating interleukin 10 concentration HP:0033199 An elevation of the concentration of interleukin 10 in the blood circulation. PMID:18424693 Reduced intensity of the triceps tendon reflex. 2020-10-11T14:23:20Z Hyporeflexia of triceps human_phenotype HP:0033200 Triceps hyporeflexia HP:0033200 Reduced intensity of the biceps tendon reflex. 2020-10-11T14:24:43Z Hyporeflexia of biceps human_phenotype HP:0033201 Biceps hyporeflexia HP:0033201 Reduced intensity of the brachioradialis tendon reflex. 2020-10-11T14:26:08Z human_phenotype HP:0033202 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. Brachioradialis hyporeflexia HP:0033202 Reduced intensity of the brachioradialis tendon reflex. PMID:32119424 Increased intensity of the brachioradialis reflex. 2020-10-11T14:29:43Z human_phenotype HP:0033203 The brachioradialis reflex is a deep tendon reflex involving the C5 and C6 nerve roots through its innervation by the radial nerve. To test brachioradialis reflex, the forearm is supported in a slightly pronated position. Then, the physician delivers a series of quick hits with the reflex hammer to the area of the styloid process of the radius at the point of brachioradialis insertion. Brachioradialis hyperreflexia HP:0033203 Increased intensity of the brachioradialis reflex. PMID:32119424 Increased intensity of the triceps reflex. 2020-10-11T14:37:10Z human_phenotype HP:0033204 Triceps hyperreflexia HP:0033204 Increased intensity of the triceps reflex. PMID:30285397 Increased intensity of the biceps reflex. 2020-10-11T14:38:36Z human_phenotype HP:0033205 To test the biceps reflex, the examinar should support the forearm of the patient, e.g., by placing it on the forearm of the examiner. The arm is midway between flexion and extension. The examiner places a thumb firmly over the biceps tendon, with the fingers curling around the elbow, and taps briskly. With a normal response, the forearm will flex at the elbow. Biceps hyperreflexia HP:0033205 Increased intensity of the biceps reflex. PMID:30285397 Increased intensity of the Achilles reflex. 2020-10-11T14:41:27Z Hyperactive ankle jerk reflex Hyperactive ankle reflex human_phenotype HP:0033206 Hyperactive Achilles reflex HP:0033206 Increased intensity of the Achilles reflex. PMID:30285397 Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. 2020-10-12T11:13:28Z Increased proportion autoreactive unresponsive CD21-/low B cells human_phenotype HP:0033207 Complement receptor type 2 (CR2, CD21) is a 145-kD glycosylated single polypeptide chain consisting of a long extracellular domain of 15 to 16 short consensus repeat sequences, a transmembrane region, and a short cytoplasmic domain. The receptor is expressed on B cells, follicular dendritic cells, thymocytes and a subset of peripheral T cells. CD21 binds complement fragments C3d, C3dg and iC3b that are covalently bound to target antigens. On B cells, CD21 forms a complex together with CD19 and CD81, which functions as a coreceptor to the BCR. Upon simultaneous binding of complement-tagged antigens by CD21 and the BCR the threshold for B cell activation is reduced. Under these circumstances, CD21 acts as a bridge between the coreceptor complex and the BCR. Because CD21 augments B-cell receptor (BCR)-mediated signaling as part of the B-cell coreceptor complex, its downregulation may confer a state of anergy to these cells, as has been demonstrated among CD21-/low B cells in patients with rheumatoid arthritis, common variable immunodeficiency or hepatitis C associated cryoglobulinemia patients. These CD21-/low B cells are enriched in autoreactive clones that are unresponsive to BCR stimulation. Increased CD21low B cell proportion HP:0033207 Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. PMID:26119182 A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. 2020-10-12T11:18:41Z human_phenotype HP:0033208 Alveolar capillary dysplasia HP:0033208 A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. PMID:21471096 Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. 2020-10-12T11:21:18Z human_phenotype HP:0033209 Acinar dysplasia HP:0033209 Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. PMID:31151956 PMID:31189067 Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. 2020-10-12T11:35:45Z human_phenotype HP:0033210 Congenital alveolar dysplasia HP:0033210 Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. PMID:31189067 A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. 2020-10-12T12:01:40Z human_phenotype HP:0033211 Decreased total iron binding capacity HP:0033211 A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. PMID:3542299 Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. 2020-10-12T12:02:56Z human_phenotype HP:0033212 Abnormal total iron binding capacity HP:0033212 Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. PMID:3542299 The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2020-10-12T12:09:07Z Elevated urine octanedioic acid level human_phenotype HP:0033213 Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. Elevated urine suberic acid level HP:0033213 The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:6466694 Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. 2020-10-12T12:53:27Z human_phenotype HP:0033214 Recurrent viral pneumonia HP:0033214 Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias. PMID:27427983 2020-10-24T11:27:37Z human_phenotype HP:0033215 Blockage (obliteration) of the capillary lumen by increased extracellular collagenous matrix, with or without hyalinosis or foam cells. Obliterative abnormality of the renal glomerulus HP:0033215 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. 2020-10-24T11:31:00Z human_phenotype HP:0033216 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis HP:0033216 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular. https://orcid.org/0000-0003-2356-950X Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. 2020-10-24T12:08:52Z human_phenotype HP:0033217 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Perihilar glomerular hyalinosis HP:0033217 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum. https://orcid.org/0000-0003-2356-950X Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. 2020-10-24T12:19:40Z human_phenotype HP:0033218 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis at the tubular pole HP:0033218 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole. https://orcid.org/0000-0003-2356-950X Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. 2020-10-24T12:22:00Z human_phenotype HP:0033219 Hyalin is a smooth, glassy-appearing, amorphous material resulting from the accumulation of serum proteins. Glomerular hyalinosis away from the vascular and tubular poles HP:0033219 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section. https://orcid.org/0000-0003-2356-950X An increased concentration of 2-ethylhydracylic acid in the urine. 2020-10-24T12:39:42Z Elevated urinary 2-ethylhydracylic acid Elevated urinary 2-methylbutyrylglycine human_phenotype HP:0033220 Isolated excretion of 2-ethylhydracrylic acid is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a defect in the proximal pathway of L-isoleucine oxidation. 2-ethylhydracylic aciduria HP:0033220 An increased concentration of 2-ethylhydracylic acid in the urine. PMID:15615815 An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. 2020-10-29T11:06:41Z human_phenotype HP:0033221 Increased CD4:CD8 ratio HP:0033221 CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. 2020-10-29T11:10:37Z Decreased CD4:CD8 ratio Inverted CD4/CD8 ratio human_phenotype HP:0033222 A low or inverted CD4/CD8 ratio is an immune risk phenotype and is associated with altered immune function, immune senescence, and chronic inflammation in both HIV-infected and uninfected populations. Inverted CD4:CD8 ratio HP:0033222 CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. PMID:29095912 Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. 2020-10-30T10:23:28Z human_phenotype HP:0033223 Abnormal glomerular parietal epithelial cell morphology HP:0033223 Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole. PMID:28361304 https://orcid.org/0000-0003-2356-950X Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. 2020-10-30T10:27:18Z Hyperplasia of the glomerular parietal epithelial cell human_phenotype HP:0033224 Glomerular parietal epithelial cell hyperplasia HP:0033224 Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering. https://orcid.org/0000-0003-2356-950X An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present 2020-10-30T10:42:41Z Hypertrophy of the glomerular parietal epithelial cell human_phenotype HP:0033225 Glomerular parietal epithelial cell hypertrophy HP:0033225 An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present https://orcid.org/0000-0003-2356-950X An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. 2020-10-30T11:00:07Z Capsular hyaline drops within Bowman's capsule human_phenotype HP:0033226 Bowman capsular hyaline drops HP:0033226 An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material. PMID:32866505 https://orcid.org/0000-0003-2356-950X An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. 2020-10-30T11:05:52Z human_phenotype HP:0033227 Glomerular synechial adhesion HP:0033227 An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis. PMID:32866505 https://orcid.org/0000-0003-2356-950X Inability to elicit triceps tendon reflex. 2020-10-30T11:15:30Z Areflexia of triceps human_phenotype HP:0033228 Triceps areflexia HP:0033228 Inability to elicit brachioradialis tendon reflex. 2020-10-30T11:16:48Z Areflexia of brachioradialis human_phenotype HP:0033229 Brachioradialis areflexia HP:0033229 Inability to elicit biceps tendon reflex. 2020-10-30T11:18:00Z Areflexia of biceps human_phenotype HP:0033230 Biceps areflexia HP:0033230 Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. 2020-10-31T12:41:42Z human_phenotype HP:0033231 Abnormal glomerular mesangial cellularity HP:0033231 Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. 2020-10-31T12:50:08Z human_phenotype HP:0033232 Abnormal glomerular mesangial matrix morphology HP:0033232 Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix. PMID:19470685 https://orcid.org/0000-0003-2356-950X Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. 2020-10-31T12:54:34Z human_phenotype HP:0033233 May be obsereved with IgA nephropathy. Paramesangial deposits HP:0033233 Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane. PMID:32866505 https://orcid.org/0000-0003-2356-950X Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material. 2020-10-31T12:56:56Z human_phenotype HP:0033234 Mesangial hyaline deposition HP:0033234 Reduced ability to desscend stairs. 2020-10-31T13:07:11Z Difficulty walking down stairs human_phenotype HP:0033235 Difficulty descending stairs HP:0033235 A failure to sustain attention that requires self-motivation to optimize performance. 2020-10-31T13:20:08Z Central fatigue human_phenotype HP:0033236 Cognitive fatigue may be observed as decreased performance following prolonged effort over an extended period of time; decreased performance after a challenging mental exertion; decreased performance after a challenging physical exertion; and decreased performance during acute but sustained mental effort. Cognitive fatigue HP:0033236 A failure to sustain attention that requires self-motivation to optimize performance. PMID:21128132 Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. 2020-11-01T12:37:49Z Detachment of visceral epithelial cells Podocyte detachment human_phenotype HP:0033237 Separation from GBM without intervening immune deposits. See Figure 5d of PMID:32866505. Visceral epithelial cell detachment HP:0033237 Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'. PMID:32866505 https://orcid.org/0000-0003-2356-950X Cytoplasmic projections into the urinary space from the luminal side of the podocyte. 2020-11-01T12:39:45Z human_phenotype HP:0033238 Podocyte microvillous transformation HP:0033238 Cytoplasmic projections into the urinary space from the luminal side of the podocyte. PMID:32866505 https://orcid.org/0000-0003-2356-950X Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus. 2020-11-01T12:45:51Z Podocyte cap human_phenotype HP:0033239 Visceral epithelial cell capping HP:0033239 An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. 2020-11-24T10:58:46Z human_phenotype Hyperinflation on pulmonary function test Overinflation on pulmonary function test HP:0033240 Elevated RV/TLC ratio HP:0033240 An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation. PMID:12934788 https://orcid.org/0000-0002-0104-692X An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. 2020-11-24T11:11:20Z human_phenotype HP:0033241 Indiviudals with polyalveolar lobe have some pulmonary function abnormalities, specifically a decrease in airway conductance, and forced expiratory volume. Polyalveolar lobe HP:0033241 An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold. PMID:7463297 A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. 2020-11-24T11:39:51Z human_phenotype HP:0033242 Horseshoe lung HP:0033242 A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac. PMID:29970781 PMID:3484566 https://orcid.org/0000-0002-0104-692X Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. 2020-11-24T11:51:10Z human_phenotype HP:0033243 Cell blebbing (bulky morphology of the cell, disruption of cell membranes and organelles) and nucleus changes (shrunken nucleus fragments and chromatin condesation) is visible with electron microscope and DAPI staining. The release of cell contents initiates an inflammatory response in the surrounding tissue is detectable with hematoxylin and eosin staining. Pulmonary necrosis HP:0033243 Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components. https://orcid.org/0000-0002-7371-8158 Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. 2020-11-25T11:33:29Z human_phenotype HP:0033244 Glycogen accumulation in pulmonary interstitial cells HP:0033244 Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells. PMID:29957271 Any structural abnormality of alveolar type 2 (ATII) cells. 2020-11-25T11:37:19Z Abnormal alveolar epithelial type II cell morphology Abnormal pulmonary type II cell morphology Abnormal type II pneumocyte morphology human_phenotype HP:0033245 Alveolar type 1 (ATI) and type 2 (ATII) cells are specialized epithelial cells of the distal lung. ATI cells are flattened squamous cells that cover around 95% of the alveolar surface and lie adjacent to capillary endothelial cells to form the pulmonary gas exchange region. ATII cells have a compact morphology and cover the remaining 5% of the alveolar surface. The ultrastructural hallmark of ATII cells is the expression of lamellar bodies containing dipalmitoylphosphatidyl choline, the major lipid component of pulmonary surfactant that reduces surface tension in the alveoli to prevent collapse of the lungs at the end of expiration. ATII cells play an important role in innate immune responses within the lung with evidence that lung surfactant proteins have anti-microbial effects and reduce inflammation caused by the inhalation of irritants. Abnormal alveolar type II pneumocyte morphology HP:0033245 Any structural abnormality of alveolar type 2 (ATII) cells. PMID:10445627 PMID:27792742 https://orcid.org/0000-0002-0104-692X Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. 2020-11-25T11:46:33Z Hypertrophic alveolar type II cells Hypertrophic alveolar type II pneumocytes human_phenotype HP:0033246 Type II pneumocyte hypertrophy HP:0033246 Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. PMID:17554398 PMID:2166657 https://orcid.org/0000-0002-7371-8158 Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. 2020-11-25T14:09:03Z human_phenotype HP:0033247 Pulmonary amyloidosis HP:0033247 Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. 2020-11-25T14:12:48Z human_phenotype HP:0033248 Multiple pulmonary interstitial hyalinized nodules HP:0033248 Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin. PMID:31538016 https://orcid.org/0000-0002-7371-8158 Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging. 2020-11-25T14:16:38Z Focal substantia nigra T2 hyperintense lesion human_phenotype HP:0033249 Focal substantia nigra T2 hyperintensity HP:0033249 An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. 2020-11-25T14:19:32Z human_phenotype HP:0033250 Nailfold capillary tortuosity HP:0033250 An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. PMID:25029335 https://orcid.org/0000-0002-0736-9199 Increase in the amount of air remaining in a person's lungs after full exhalation. 2020-11-25T14:24:29Z Elevated RV human_phenotype HP:0033251 Elevated residual volume HP:0033251 Increase in the amount of air remaining in a person's lungs after full exhalation. PMID:12934788 Elevated RV Exaggerated skin markings (dermatoglyphics) on the palms of the hand. 2020-11-27T19:22:53Z human_phenotype HP:0033252 Palmar hyperlinearity HP:0033252 Exaggerated skin markings (dermatoglyphics) on the palms of the hand. PMID:23301728 A reduction in the concentration of interferon gamma measured in the blood circulation. 2020-11-27T19:24:26Z Reduced circulating interferon gamma human_phenotype HP:0033253 Reduced circulating interferon gamma concentration HP:0033253 Narrowing of the anorectum associated with inflammation or scar tissue. 2020-11-27T19:30:05Z Stricture of the anorectum human_phenotype HP:0033254 Anorectal stricture HP:0033254 Narrowing of the anorectum associated with inflammation or scar tissue. PMID:25109493 A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. 2020-11-27T19:32:15Z Congenital lobar emphysema human_phenotype HP:0033255 Lobar overinflation is more commonly present in neonate or early infancy with life-threatening respiratory distress. The upper lobes are more frequently affected than the lower one. And more common in males (M:F = 3:1). On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with overinflation and contralateral mediastinal shift. Congenital lobar overinflation HP:0033255 A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes. PMID:31118601 https://orcid.org/0000-0003-0113-912X Inflammation of the entire colon. 2020-11-27T19:37:38Z human_phenotype HP:0033256 Pancolitis HP:0033256 Inflammation of the entire colon. PMID:16189424 A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage. 2020-11-27T19:39:48Z Delayed ability to cruise human_phenotype HP:0033257 Delayed ability to walk with support HP:0033257 Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. 2020-11-28T14:34:03Z SUDEP human_phenotype HP:0033258 Sudden unexpected death in epilepsy HP:0033258 Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. PMID:22191982 https://orcid.org/0000-0002-1735-8178 https://orcid.org/0000-0002-9588-2944 SUDEP A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. 2020-11-28T14:43:08Z human_phenotype HP:0033259 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. Non-motor seizure HP:0033259 A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. PMID:2827606 PMID:28276060 Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. 2020-11-28T14:55:03Z human_phenotype HP:0033260 Livedo racemosa HP:0033260 Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. PMID:26500860 PMID:31753828 Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. 2020-11-28T14:56:45Z human_phenotype HP:0033261 Renal artery aneurysm HP:0033261 Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. PMID:25537277 A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. 2020-11-28T15:04:25Z Transphyseal distal humerus fracture human_phenotype HP:0033262 Transphyseal fractures of the distal humerus typically occur in children younger than 3 years secondary to birth trauma, nonaccidental trauma, or a fall from a small height. Transphyseal fracture of the distal humerus HP:0033262 A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis. PMID:26808044 Lack of platelet dense granules, a type of platelet organelles. 2020-11-28T15:08:55Z Absent platelet dense bodies human_phenotype HP:0033263 Absent platelet dense granules HP:0033263 Lack of platelet dense granules, a type of platelet organelles. PMID:11809908 Increased size of platelet dense granules. 2020-11-28T15:12:09Z human_phenotype HP:0033264 Enlarged platelet dense granules HP:0033264 Increased size of platelet dense granules. PMID:16551969 Lamellated intracytoplasmic lipid inclusions within podocytes. 2020-11-28T15:14:49Z Podocyte myelin inclusions human_phenotype HP:0033265 Podocyte myelin figures HP:0033265 Lamellated intracytoplasmic lipid inclusions within podocytes. PMID:32866505 https://orcid.org/0000-0003-2356-950X Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. 2020-11-28T15:19:59Z human_phenotype HP:0033266 Glomerular pseudocrescent HP:0033266 Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact. PMID:32866505 https://orcid.org/0000-0003-2356-950X Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. 2020-11-28T15:58:18Z human_phenotype HP:0033267 Abnormal glomerular capillary lumen morphology HP:0033267 Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus. PMID:24875196 Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. 2020-11-28T16:01:47Z human_phenotype HP:0033268 Deflation of the glomerular tuft HP:0033268 Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane. PMID:27102348 https://orcid.org/0000-0003-2356-950X Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). 2020-11-28T16:04:12Z Collapse of glomerular capillary walls human_phenotype HP:0033269 Wrinkling and folding of the glomerular basemement membrane (GBM) with partial or complete occlusion of the capillary lumen: wrinkling and folding of the GBM with partial or complete occlusion of the capillary lumen. The wrinkling is generally made by small and/or big irregular folds of the GBM. Glomerular capillary collapse HP:0033269 Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs). PMID:32866505 https://orcid.org/0000-0003-2356-950X Global distention of glomerular capillaries with intraluminal intact red blood cells. 2020-11-28T16:07:32Z Glomerular congestion human_phenotype HP:0033270 Glomerular capillary congestion HP:0033270 Global distention of glomerular capillaries with intraluminal intact red blood cells. PMID:32866505 https://orcid.org/0000-0003-2356-950X Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. 2020-11-28T16:09:35Z human_phenotype HP:0033271 Glomerular capillary microaneurysm HP:0033271 Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis. PMID:32866505 https://orcid.org/0000-0003-2356-950X An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. 2020-11-28T16:20:58Z human_phenotype HP:0033272 Abnormal glomerular endothelial cell morphology HP:0033272 An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier. PMID:29629372 https://orcid.org/0000-0003-2356-950X Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. 2020-11-28T16:22:34Z human_phenotype HP:0033273 Loss of glomerular endothelial cell fenestration HP:0033273 Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm. PMID:19129259 https://orcid.org/0000-0003-2356-950X Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. 2020-11-28T16:25:15Z human_phenotype HP:0033274 Glomerular endotheliosis HP:0033274 Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen. PMID:14511965 https://orcid.org/0000-0003-2356-950X Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. 2020-11-28T16:27:12Z human_phenotype HP:0033275 Glomerular endothelial tubuloreticular inclusion HP:0033275 Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon. PMID:23957425 https://orcid.org/0000-0003-2356-950X HP:0000095 2020-11-28T16:29:10Z human_phenotype HP:0033276 obsolete Glomerular endocapillary hypercellularity true HP:0033276 Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. 2020-11-28T16:33:47Z human_phenotype HP:0033277 Glomerular fibrinoid necrosis HP:0033277 Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis. PMID:29459092 https://orcid.org/0000-0003-2356-950X Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. 2020-11-28T17:19:21Z human_phenotype HP:0033278 Reduced CD95-induced lymphocyte apoptosis HP:0033278 Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. PMID:21625644 An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. 2020-11-28T17:55:49Z human_phenotype HP:0033279 Enterocutaneous fistula HP:0033279 An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. PMID:27247538 Enlargement of lymph nodes surrounding the trachea. 2020-11-28T18:19:06Z human_phenotype HP:0033280 Paratracheal lymphadenopathy HP:0033280 Enlargement of lymph nodes surrounding the trachea. PMID:4023240 The presence of nucleated red blood cells in the peripheral blood circulation. 2020-11-28T19:50:48Z human_phenotype HP:0033281 Nucleated red blood cells (NRBCs) are early erythrocyte precursors not present in the peripheral blood of normal adults. Fenestrations in the bone marrow provide a physical filter to the release of the large NRBCs into the circulation, and the rare NRBC that escapes is rapidly cleared from peripheral blood by the spleen. The presence of circulating NRBCs in adults thus reflects extreme increases in erythropoietic activity or failure of the blood filtration mechanisms. Circulating nucleated red blood cells HP:0033281 The presence of nucleated red blood cells in the peripheral blood circulation. PMID:28633658 Any abnormal sttructure of the glomerular basement membrane. 2020-11-28T20:24:00Z human_phenotype HP:0033282 The (GBM) is an integral component of the glomerular filtration barrier; an important and highly complex capillary wall that is exposed to mechanical forces driven by capillary hydrostatic pressure. This barrier is permeable to water and small molecules, and selectively withholds cells and macromolecules such as albumin in the circulation. Abnormal glomerular basement membrane morphology HP:0033282 Any abnormal sttructure of the glomerular basement membrane. PMID:29435440 Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. 2020-11-28T20:34:43Z human_phenotype HP:0033283 Segmentally thickened glomerular basement membrane HP:0033283 Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. https://orcid.org/0000-0003-2356-950X Prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. 2020-11-28T20:36:30Z human_phenotype HP:0033284 Diffusely thickened glomerular basement membrane HP:0033284 Prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals. https://orcid.org/0000-0003-2356-950X Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy. 2020-11-28T20:39:15Z human_phenotype HP:0033285 Thickened glomerular basement membranes with no electron dense deposits HP:0033285 2020-11-28T21:12:16Z human_phenotype HP:0033286 Thickened glomerular basement membranes with electron dense deposits HP:0033286 Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. 2020-11-28T21:13:41Z human_phenotype HP:0033287 This feature can be observed on silver staining or electron microscopy. Glomerular basement membrane lucencies HP:0033287 Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits. PMID:32866505 https://orcid.org/0000-0003-2356-950X 2020-11-28T21:16:42Z human_phenotype HP:0033288 Delicate, silver positive projections that extend at right angles from the glomerular basement membrane (GBM) out into the urinary space, creating an irregular GBM profile. Glomerular basement membrane spikes HP:0033288 Delicate, silver positive projections that extend at right angles from the glomerular basement membrane (GBM) out into the urinary space, creating an irregular GBM profile. PMID:32866505 https://orcid.org/0000-0003-2356-950X Irregular folding of the glomerular basement membrane with an intact lamina densa. 2020-11-28T21:18:45Z human_phenotype HP:0033289 Wrinkling and folding of the glomerular basement membrane (GBM) without glomerular epithelial cell hypertrophy and hyperplasia (formerly known an ischemic type of collapse). The urinary space is patent. The wrinkling is generally made by small regular infoldings of the GBM. Glomerular basement membrane wrinkling HP:0033289 Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. 2020-11-28T21:22:38Z human_phenotype HP:0033290 Glomerular subendothelial widening HP:0033290 Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material. PMID:21827618 PMID:32866505 https://orcid.org/0000-0003-2356-950X Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. 2020-11-28T21:25:04Z human_phenotype HP:0033291 Glomerular karyhorrhectic debris HP:0033291 Apoptotic, pyknotic, and fragmented nuclei within the glomerulus. PMID:32866505 https://orcid.org/0000-0003-2356-950X An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. 2020-11-28T21:27:52Z human_phenotype HP:0033292 Glomerular fibrin thrombus HP:0033292 An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen. https://orcid.org/0000-0003-2356-950X Intracapillary amorphous, eosinophilic material consisting of immune deposits. 2020-11-28T21:29:20Z human_phenotype HP:0033293 Glomerular hyaline pseudothrombus HP:0033293 Intracapillary amorphous, eosinophilic material consisting of immune deposits. PMID:32866505 https://orcid.org/0000-0003-2356-950X Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. 2020-11-28T21:30:32Z human_phenotype HP:0033294 Glomerular lipoprotein thrombus HP:0033294 Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections. https://orcid.org/0000-0003-2356-950X Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. 2020-11-28T21:33:16Z human_phenotype HP:0033295 Mesangial Immune complex deposition HP:0033295 Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. https://orcid.org/0000-0003-2356-950X Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. 2020-11-28T21:35:21Z Binucleated podocytes human_phenotype HP:0033296 Binucleated visceral epithelial cells HP:0033296 Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy. https://orcid.org/0000-0003-2356-950X Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. 2020-11-28T21:38:10Z Multinucleated podocytes Podocyte multinucleation human_phenotype HP:0033297 Multinucleated visceral epithelial cells HP:0033297 Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy. https://orcid.org/0000-0003-2356-950X Any deviation from the normal concentration of complement factor H-related protein 1 in the blood circulation. 2020-11-28T21:49:11Z Abnormal circulating complement factor H-related protein 1 concentration Abnormal complement factor H-related protein 1 level human_phenotype HP:0033298 Complement factor H-related protein 1 (CFHR1) is a complement regulator which has been reported to regulate complement by blocking C5 convertase activity and interfering with C5b surface association. CFHR1 also competes with complement factor H (CFH) for binding to C3b, and may act as an antagonist of CFH-directed regulation on cell surfaces. Abnormal circulating complement factor H-related protein 1 concentration HP:0033298 The concentration of complement factor H-related protein 1 in the blood circulation is below the lower limit of normal. 2020-11-28T21:57:26Z Decreased circulating complement factor H-related protein 1 concentration Decreased complement factor H-related protein 1 concentration Decreased complement factor H-related protein 1 level Decreased complement factor H-related protein 1 level in blood Reduced complement factor H-related protein 1 concentration Reduced complement factor H-related protein 1 level Reduced complement factor H-related protein 1 level in blood human_phenotype HP:0033299 Decreased circulating complement factor H-related protein 1 concentration HP:0033299 The concentration of complement factor H-related protein 1 in the blood circulation is above the upper limit of normal. 2020-11-28T21:57:41Z Elevated circulating complement factor H-related protein 1 concentration Elevated complement factor H-related protein 1 concentration Elevated complement factor H-related protein 1 level Elevated complement factor H-related protein 1 level in blood Increased complement factor H-related protein 1 concentration Increased complement factor H-related protein 1 level Increased complement factor H-related protein 1 level in blood human_phenotype HP:0033300 Elevated circulating complement factor H-related protein 1 concentration HP:0033300 An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine. 2020-11-28T22:00:20Z human_phenotype HP:0033301 Elevated circulating 1-methylhistidine concentration HP:0033301 The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. 2020-11-28T22:03:02Z human_phenotype HP:0033302 4-hydroxyphenlyllactic acid is a human metabolite that derives from an acetic acid. Elevated circulating 4-hydroxyphenylacetic acid concentration HP:0033302 Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group. 2020-11-28T22:06:48Z human_phenotype HP:0033303 Elevated urinary monocarboxylic acid level HP:0033303 HP:0003607 2020-11-28T22:07:57Z human_phenotype HP:0033304 obsolete Elevated urine 4-hydroxyphenylacetic acid level true HP:0033304 Any deviation from the normal concentration of fetuin-A in the blood circulation. 2020-11-28T22:09:58Z Abnormal alpha-2-HS-glycoprotein level Abnormal circulating fetuin-A concentration human_phenotype HP:0033305 Fetuin-A (FetA) is a 64-kDa glycoprotein that is found in relatively high concentrations in human serum. In human adults, FetA is mainly expressed and secreted from the liver and adipose tissue. Epidemiologic research consistently observes elevated circulating FetA in obesity and related complications, such as type 2 diabetes mellitus, the metabolic syndrome, and nonalcoholic fatty liver disease. Abnormal circulating fetuin-A concentration HP:0033305 The concentration of fetuin-A in the blood circulation is below the lower limit of normal. 2020-11-28T22:12:28Z Decreased alpha-2-HS-glycoprotein concentration Decreased alpha-2-HS-glycoprotein level Decreased alpha-2-HS-glycoprotein level in blood Decreased circulating fetuin-A concentration Reduced alpha-2-HS-glycoprotein concentration Reduced alpha-2-HS-glycoprotein level Reduced alpha-2-HS-glycoprotein level in blood human_phenotype HP:0033306 Decreased circulating fetuin-A concentration HP:0033306 The concentration of fetuin-A in the blood circulation is above the upper limit of normal. 2020-11-28T22:12:34Z Elevated alpha-2-HS-glycoprotein concentration Elevated alpha-2-HS-glycoprotein level Elevated alpha-2-HS-glycoprotein level in blood Elevated circulating fetuin-A concentration Increased alpha-2-HS-glycoprotein concentration Increased alpha-2-HS-glycoprotein level Increased alpha-2-HS-glycoprotein level in blood human_phenotype HP:0033307 Elevated circulating fetuin-A concentration HP:0033307 Excessive growth of the kneecap (patella). 2020-11-28T22:15:11Z human_phenotype HP:0033308 Patellar overgrowth HP:0033308 A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. 2020-11-28T22:16:36Z human_phenotype HP:0033309 Ileoileal intussusception HP:0033309 A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. PMID:17872641 Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. 2020-11-28T22:20:52Z human_phenotype HP:0033310 Osmotic diarrhea involves an unabsorbed substance that draws water from the plasma into the intestinal lumen along osmotic gradients. Secretory diarrhea results from disordered electrolyte transport and, despite the term, is more commonly caused by decreased absorption rather than net secretion. Inflammatory diseases cause diarrhea with exudative, secretory, or osmotic components. Osmotic diarrhea HP:0033310 Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. PMID:22677080 A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. 2020-11-28T22:39:58Z human_phenotype HP:0033311 Abdominal aortic dissection HP:0033311 A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers. PMID:15902826 Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. 2020-11-29T13:07:36Z human_phenotype HP:0033312 Bowman's capsule is a part of the nephron that forms a cup-like sack surrounding the glomerulus. The capsule encloses a space called Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. Bowman's capsule, Bowman's space, and the glomerular capillary network and its supporting architecture can collectively be thought of as composing the glomerulus. Abnormal Bowman space morphology HP:0033312 Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron. PMID:32119361 Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. 2020-11-29T13:10:01Z Collagenization of the urinary space human_phenotype HP:0033313 Urinary space collagenization HP:0033313 Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft. PMID:32866505 https://orcid.org/0000-0003-2356-950X Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. 2020-11-29T13:17:07Z Hyperplasia of visceral epithelial cells Podocyte hyperplasia human_phenotype HP:0033314 Visceral epithelial cell hyperplasia HP:0033314 Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium. PMID:32866505 https://orcid.org/0000-0003-2356-950X Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. 2020-11-29T13:22:46Z human_phenotype HP:0033315 Visceral epithelial hyaline droplets HP:0033315 Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells. https://orcid.org/0000-0003-2356-950X Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. 2020-11-29T13:27:03Z human_phenotype HP:0033316 The crescent is an unspecific histopathological lesion that can be triggered by a variety of different underlying disorders. Whenever, microvascular injury leads to rupture of the glomerular basement membrane (GBM), the leakage of plasma proteins drives parietal epithelial cell hyperplasia as the key cellular component of the crescent. Single nephron GFR decreases because of tuft collapse, rupture of the Bowman capsule, and influx of immune cells and fibroblasts are all secondary events that may or may not occur in individual glomeruli. Periglomerular immune cell infiltrates or fibrotic encasting of the activated parietal cells (fibrocellular crescents) are subsequent events that may affect the dynamics and prognosis of the disease. Glomerular crescent formation HP:0033316 Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin. PMID:32132388 https://orcid.org/0000-0003-2356-950X A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. 2020-11-29T13:31:42Z human_phenotype HP:0033317 Cellular crescent HP:0033317 A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix. PMID:32866505 A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. 2020-11-29T13:33:28Z human_phenotype HP:0033318 Fibrocellular crescent HP:0033318 A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix. PMID:32866505 https://orcid.org/0000-0003-2356-950X A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. 2020-11-29T13:37:23Z human_phenotype HP:0033319 Fibrous crescent HP:0033319 A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference. PMID:32866505 https://orcid.org/0000-0003-2356-950X Loss of mesangial cells segmentally or globally. 2020-11-29T13:43:05Z human_phenotype HP:0033320 Mesangial cell loss can be observed in the setting of mesangiolysis. Mesangial cell loss HP:0033320 Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. 2020-11-29T13:57:16Z human_phenotype HP:0033321 Glomerular obsolescence HP:0033321 Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium. https://orcid.org/0000-0003-2356-950X Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. 2020-11-29T13:59:59Z human_phenotype HP:0033322 Glomerular capillary wall duplication without cellular interposition HP:0033322 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. https://orcid.org/0000-0003-2356-950X Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. 2020-11-29T14:01:35Z human_phenotype HP:0033323 Glomerular capillary wall duplication with cellular interposition HP:0033323 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM. https://orcid.org/0000-0003-2356-950X The concentration of homovanillic acid in the blood circulation is above the upper limit of normal. 2020-11-29T14:09:50Z human_phenotype HP:0033324 Homovanillic acid is the main metabolite produced from dopamine degradation by the action of monoamine oxidase. Elevated circulating homovanillic acid concentration HP:0033324 Increased concentration of sebacic acid in the blood circulation. 2020-11-29T14:11:41Z human_phenotype HP:0033325 Elevated circulating sebacic acid concentration HP:0033325 An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation. 2020-11-29T14:16:15Z human_phenotype HP:0033326 Hydroxyphenyllactic acid or 4-hydroxyphenyllactate (the L-form) is a tyrosine metabolite. The level of L-hydroxyphenyllactic acid is elevated in patients with a deficiency of the enzyme p-hydroxyphenylpyruvate oxidase. Elevated circulating hydroxyphenyllactic acid concentration HP:0033326 Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. 2020-11-29T14:25:23Z human_phenotype HP:0033327 The prevalence of nail involvement in individuals with psoriasis is approximately 50%, with even higher prevalnce in individuals with psoriatic arthritis. Nail psoriasis HP:0033327 Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed. PMID:24770509 PMID:27041288 Increase in the number of type II pneumocytes. 2020-11-29T15:29:09Z human_phenotype HP:0033328 Type II pneumocyte hyperplasia HP:0033328 Increase in the number of type II pneumocytes. PMID:11079017 https://orcid.org/0000-0002-7371-8158 Anomaly of the physiological response to maintain the body's posture when movement and position is altered. 2020-11-29T16:11:38Z Abnormal postural reaction human_phenotype HP:0033329 The primitive reflexes and the postural reactions comprise one of the earliest, simplest, and most frequently used tools among child neurologists to assess the central nervous system integrity of infants and young children. Infants with cerebral palsy have been known to manifest persistence or delay in the disappearance of primitive reflexes and pathologic or absent postural reactions. Primitive reflexes develop prenatally, are present at birth in the full-term neonate. Postural reflexes emerge after birth and take up to three and a half years to be fully developed. Abnormal postural reflex HP:0033329 Anomaly of the physiological response to maintain the body's posture when movement and position is altered. PMID:15246484 Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. 2020-11-29T16:23:48Z human_phenotype HP:0033330 Impaired neck-righting reflex HP:0033330 Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years. PMID:13502822 Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. 2020-11-29T16:35:16Z human_phenotype HP:0033331 Acute phase response HP:0033331 Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. PMID:20034426 PMID:30137854 The concentration of serum amyloid A in the blood circulation is above the upper limit of normal. 2020-11-29T16:37:12Z Elevated circulating amyloid A Elevated circulating serum amyloid A concentration Elevated serum amyloid A concentration Elevated serum amyloid A level Elevated serum amyloid A level in blood Increased serum amyloid A concentration Increased serum amyloid A level Increased serum amyloid A level in blood human_phenotype HP:0033332 Elevated circulating serum amyloid A concentration HP:0033332 Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. 2020-11-29T16:42:08Z human_phenotype HP:0033333 Jaw contracture HP:0033333 Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. PMID:12453260 An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. 2020-11-29T17:48:10Z human_phenotype HP:0033334 Abnormal embryonic development HP:0033334 An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm. PMID:32680920 An anomaly in the development of the embryo in a stage prior to implantation. 2020-11-29T17:49:55Z human_phenotype HP:0033335 Human embryo development begins in relative transcriptional silence with an oocyte to embryo transition that lasts for about 3 days and encompasses fusion of the egg and sperm, migration and fusion of the germ cell pronuclei, genetic and epigenetic reprogramming. The embryo subsequently undergoes compaction to form a morula that marks the first morphological indication of a break in radial symmetry. Subsequent cell divisions lead to the development of a blastocyst that comprises a fluid-filled blastocyst cavity and an inner cell mass, surrounded by trophectoderm cells. Implantation, which in humans occurs at approximately day 7 of development, is required for further development of the embryo proper. Abnormal preimplantation embryonic development HP:0033335 Failure of a fertilized oocyte to undergo the first round of cell division. 2020-11-29T17:54:41Z Failure of zygotic cell division human_phenotype HP:0033336 A zygote undergoes rapid cell divisions referred to as cleavage because they are not are not associated with significant growth of the embryo. The iniital round of cleavage forms a spherical ball of cells called the blastula, which then develops into a blastocyst. Zygotic cleavage failure HP:0033336 Failure of a fertilized oocyte to undergo the first round of cell division. PMID:32502391 An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II. 2020-11-29T18:23:09Z human_phenotype HP:0033337 Abnormal gametogenesis HP:0033337 Anomalous oocyte meiosis 2020-11-29T18:29:47Z human_phenotype HP:0033338 Abnormal female meiosis HP:0033338 An increased concentration of inosine in the blood circulation. 2020-11-29T19:04:53Z human_phenotype HP:0033339 A purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond. Increased circulating inosine concentration HP:0033339 Increased concentration of guanosine in the blood circulation. 2020-11-29T19:06:04Z human_phenotype HP:0033340 Increased circulating guanosine concentration HP:0033340 An increased concentration of beta-sitosterol in the blood circulation. 2020-11-30T12:46:27Z Elevated circulating beta-sitosterol concentration human_phenotype HP:0033341 Sitosterol (also known as beta-sitosterol) is a phytosterols with a chemical structure similar to that of cholesterol. Elevated circulating sitosterol concentration HP:0033341 The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. 2020-11-30T12:48:39Z Anti-AQP4 antibody positivity human_phenotype HP:0033342 Anti-aquaporin 4 antibody positivity HP:0033342 The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4. PMID:24260168 PMID:24415568 PMID:25889963 PMID:31312230 https://orcid.org/0000-0002-3387-1836 Anti-AQP4 antibody positivity Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. 2020-11-30T14:20:47Z Mucous diarrhea Mucous diarrhoea human_phenotype HP:0033343 Mucoid diarrhea HP:0033343 Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. PMID:31869107 Mucous diarrhoea A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. 2020-11-30T17:44:26Z human_phenotype HP:0033344 Pleural cobblestoning HP:0033344 A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura. PMID:27618319 https://orcid.org/0000-0003-0113-912X Pain (An unpleasant sensory and emotional experience) along the course of a nerve. 2020-11-30T17:57:46Z human_phenotype HP:0033345 Neuralgia HP:0033345 Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events. 2020-11-30T21:09:17Z Psychic aura human_phenotype HP:0033346 Events may appear alone or in combination. Included are feelings of depersonalization. These phenomena have subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. Psychic epileptic aura HP:0033346 A purely subjective manifestation of an epileptic seizure pertaining to altered cognition. 2020-11-30T21:47:36Z human_phenotype HP:0033347 Cognitive epileptic aura HP:0033347 An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. 2020-11-30T21:50:04Z human_phenotype HP:0033348 Epileptic aura HP:0033348 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. 2020-11-30T22:08:36Z Acute repetitive seizures Crescendo seizures Cyclical seizures Recurrent seizures Seizure flurries Serial seizures human_phenotype HP:0033349 This term should be used with an HPO term for the appropriate type of seizure to denote clustered occurrence of seizures. There is no consensus within the medical community regarding the definition of a seizure cluster, where limitations of current clinical definitions include poor sensitivity and specificity. The proposed definition is meant to serve as a placeholder until a more robust definition, likely facilitated by technological advances in seizure tracking devices and personalized cluster identification is agreed upon. Seizure cluster HP:0033349 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient. PMID:29871784 PMID:32305858 An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. 2020-11-30T22:24:30Z Elevated FEV1 human_phenotype HP:0033350 Elevated forced expiratory volume in one second HP:0033350 An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject. PMID:19671143 https://orcid.org/0000-0001-5361-6739 Elevated FEV1 Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. 2020-11-30T22:27:14Z Esophageal candidiasis human_phenotype HP:0033351 Candida esophagitis HP:0033351 Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. PMID:30725953 Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. 2020-11-30T22:31:06Z Pulmonary arterial hypertension crisis human_phenotype HP:0033352 Pulmonary hypertensive crisis HP:0033352 Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output. PMID:27295157 Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). 2020-12-01T11:42:14Z human_phenotype HP:0033353 Abnormal blood vessel morphology HP:0033353 Any deviation from the normal amount of a metabolite in urine. 2020-12-01T12:00:51Z human_phenotype HP:0033354 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. Abnormal urine metabolite level HP:0033354 An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. 2020-12-01T12:09:27Z Elevated urinary DPD human_phenotype HP:0033355 Increased urine deoxypyridinoline level HP:0033355 An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. PMID:12661898 PMID:9127470 Elevated urinary DPD An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine. 2020-12-01T12:16:14Z human_phenotype HP:0033356 Elevated circulating o-phosphoserine concentration HP:0033356 Reduced range of motion turning the head side to side. 2020-12-01T12:37:00Z human_phenotype HP:0033357 Limited head rotation HP:0033357 A deviation from the normal range of concentration of particles in urine. 2020-12-01T12:44:51Z human_phenotype HP:0033358 Abnormal urine osmolality HP:0033358 An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine. 2020-12-01T12:45:30Z Elevated urine osmolality Elevated urine osmolarity human_phenotype HP:0033359 Hyperosthenuria HP:0033359 A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. 2020-12-02T20:43:41Z Impaired task shifting human_phenotype HP:0033360 Impaired ability to shift attention HP:0033360 A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible. PMID:23356593 An open sore of the nasal mucosa. 2020-12-02T21:00:12Z human_phenotype HP:0033361 Nasal ulcers may occur due exogenous factors, such as trauma, pressure or inhalation of metals dust or aerosol. Nasal ulcers may also be a sign of an underlying disease, for example malignancies, infections (tuberculosis, leprosy, leishmaniasis), vasculitis (Wegener's granulomatosis, Churg-Strauss syndrome) or systemic lupus erythematosus. Nasal ulcer HP:0033361 An open sore of the nasal mucosa. PMID:11314863 PMID:25441476 PMID:26657735 Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. 2020-12-16T11:33:03Z human_phenotype HP:0033362 Recurrent coughing spasms HP:0033362 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. 2020-12-16T11:36:41Z human_phenotype HP:0033363 Hyaline membranes HP:0033363 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult. PMID:24224590 https://orcid.org/0000-0003-0113-912X A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. 2020-12-16T11:45:01Z human_phenotype HP:0033364 Lipoid pneumonia HP:0033364 A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid. PMID:20028911 https://orcid.org/0000-0002-7371-8158 A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. 2020-12-16T11:45:51Z human_phenotype HP:0033365 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. Endogenous lipoid pneumonia HP:0033365 A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace. PMID:20028911 https://orcid.org/0000-0002-0104-692X A type of lipoid pneumonia in which the source of the lipids is external to the body. 2020-12-16T11:50:51Z human_phenotype HP:0033366 Endogenous lipoid pneumonia is a histopathologic diagnosis made on the basis of the characteristic appearance of the obstructive pneumonitis. Macroscopically, there is parenchymal consolidation that has a characteristic yellowish discoloration due to the accumulation of lipid in the alveoli. Histologically, there is an accumulation of lipid-filled macrophages and eosinophilic proteinaceous material derived from degenerating cells, including surfactant from type II pneumocytes, in the alveoli distal to the bronchial obstruction. Exogenous lipoid pneumonia HP:0033366 A type of lipoid pneumonia in which the source of the lipids is external to the body. PMID:20028911 https://orcid.org/0000-0003-0113-912X Low level of blood oxygen induced by changing from a recumbent to an upright position. 2020-12-16T11:53:55Z human_phenotype HP:0033367 Orthodeoxia HP:0033367 Low level of blood oxygen induced by changing from a recumbent to an upright position. PMID:27669319 https://orcid.org/0000-0003-0113-912X A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. 2020-12-16T11:55:39Z human_phenotype HP:0033368 Platypnea HP:0033368 A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position. PMID:27669319 https://orcid.org/0000-0003-0113-912X A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. 2020-12-16T12:10:16Z human_phenotype HP:0033369 Cavitating leukodystrophy HP:0033369 A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. PMID:32522799 https://orcid.org/0000-0002-0736-9199 Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. 2020-12-16T12:36:41Z Endobronchial telangiectasia human_phenotype HP:0033370 Endobronchial telangiectasia may lead to hemoptysis and pulmonary hemorrhage. Bronchial telangiectasia HP:0033370 Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system. PMID:31466963 PMID:3359830 https://orcid.org/0000-0002-7371-8158 Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. 2020-12-16T12:59:57Z human_phenotype HP:0033371 This feature is shown in Figure 2 of PMID:26744680. Bronchocentric granulomatosis HP:0033371 Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen. PMID:26744680 https://orcid.org/0000-0002-7371-8158 Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. 2020-12-23T12:36:28Z human_phenotype HP:0033372 The carbon monoxide transfer coefficient (KCO is approximately kCO/barometric pressure in mL/minute/ mmHg/L) is often written as DLCO/VA. It is an index of the efficiency of alveolar transfer of carbon monoxide. Abnormal KCO HP:0033372 Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O. PMID:11334115 https://orcid.org/0000-0002-4095-8489 Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). 2020-12-23T12:40:33Z human_phenotype HP:0033373 Increased KCO HP:0033373 Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). PMID:11334115 https://orcid.org/0000-0002-4095-8489 Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). 2020-12-23T12:41:42Z human_phenotype HP:0033374 Decreased KCO HP:0033374 Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index). PMID:11334115 https://orcid.org/0000-0002-4095-8489 Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. 2020-12-23T12:44:15Z human_phenotype HP:0033375 See Figure 15.11 in PMCID:PMC7262960. Anthracosis HP:0033375 Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers. PMID:29892540 https://orcid.org/0000-0003-0113-912X Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. 2020-12-23T13:39:44Z human_phenotype HP:0033376 Alveolar septal thickening HP:0033376 Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology. https://orcid.org/0000-0002-7371-8158 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependent on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clinical settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). 2020-12-23T14:03:04Z human_phenotype HP:0033377 The bronchial mucosa also contains a small cluster of neuroendocrine cells, also known as Kulchitsky cells. They have neurosecretory type granules and can secrete several factors. This includes catecholamine and polypeptide hormones, such as serotonin, calcitonin, and gastrin-releasing factors (bombesin). Like brush cells, these neuroendocrine cells make up only a small portion of mucosal epithelium, around 3%. Pulmonary neuroendocrine cells (NECs), which produce bioactive products, including bombesin-like peptide and serotonin, are specialized epithelial cells scattered throughout the conducting airways and as innervated clusters (neuroepithelial bodies [NEBs]). In the fetus, NECs are most abundant in the distal airways where they promote branching morphogenesis, epithelial and mesenchymal cell proliferation, and surfactant secretion. Postnatally, NECs function as oxygen chemosensors and degranulate in response to hypoxia. Although NECs decline rapidly in number after the neonatal period, NEC hyperplasia has been described in a number of conditions or disorders, including bronchopulmonary dysplasia, sudden infant death syndrome, pulmonary hypertension, cystic fibrosis, and mechanical ventilation. Increased airway neuroendocrine cells HP:0033377 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependent on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clinical settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs). PMID:20884725 PMID:26474448 PMID:30521210 PMID:32558323 PMID:33306420 https://orcid.org/0000-0003-0113-912X Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. 2020-12-23T14:10:02Z human_phenotype HP:0033378 Increased airway neuroepithelial bodies HP:0033378 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts. PMID:10623675 https://orcid.org/0000-0003-0113-912X The presence of a left and a right superior vena cava. 2020-12-23T14:20:56Z Bilateral SVC human_phenotype HP:0033379 The thoracic embryonic venous system is composed of two large veins (the superior cardinal veins) which return blood from cranial aspect of embryo, and the inferior cardinal vein, which returns blood from the caudal aspect. Both pairs of veins join to form right and left common cardinal veins before entering the embryological heart. The left common cardinal vein persists to form coronary sinus and oblique vein of left atrium. During the 8th week of gestation, an anastomosis forms between right and left superior cardinal veins resulting in the innominate (or brachiocephalic) vein. The cephalic portion of superior cardinal veins form the internal jugular veins. The caudal portion of right superior vein forms the normal right-sided superior vena cava, while the portion of the left superior cardinal vein caudal to the innominate vein normally regresses to become the ligament of Marshall. If this normal regression of the left superior cardinal vein fails to occur, a persistent left-sided vascular structure that empties into the coronary sinus, results (Persistent left superior vena cava or PLSVC). The innominate vein may or may not degenerate in these cases leading to variations in anatomy. The most common subtype of PLSVC results in the presence of both left and right SVCs (Bilateral SVC). A bridging innominate vein may or may not be present. Bilateral superior vena cava HP:0033379 The presence of a left and a right superior vena cava. PMID:18847480 Bilateral SVC Inflammation of the cartilage of the nose. 2020-12-23T14:31:16Z Nose chondritis human_phenotype HP:0033380 Nasal chondritis HP:0033380 Inflammation of the cartilage of the nose. PMID:33108101 Abnormally increased concentration of O-stearoylcarnitine in the blood circulation. 2020-12-23T14:47:06Z Elevated circulating C18:0 acylcarnitine concentration human_phenotype HP:0033381 Stearoylcarnitine (CHEBI:73074) is known by several names including O-stearoylcarnitine and stearoylcarnitine (C18). Elevated circulating stearoylcarnitine concentration HP:0033381 Abnormally increased concentration of palmitoylcarnitine in the blood circulation. 2020-12-23T15:05:50Z Elevated circulating 16:0 acylcarnitine concentration human_phenotype HP:0033382 Palmitoylcarnitine (CHEBI:73067) is also known as O-palmitoylcarnitine and O-hexadecanoylcarnitine. Elevated circulating palmitoylcarnitine concentration HP:0033382 Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. 2021-01-02T12:41:56Z Decreased CMAP amplitude human_phenotype HP:0033383 The CMAP is a summated voltage response from the individual muscle fiber action potentials. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). Decreased compound muscle action potential amplitude HP:0033383 Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. PMID:15961865 Decreased CMAP amplitude Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. 2021-01-02T13:26:26Z human_phenotype HP:0033384 Bone undergoes continuous remodeling because of the activity of osteoblasts (bone formation) and osteoclasts (bone resorption). Collagen degradation products may be considered as biochemical markers of bone resorption. Elevated urinary collagen degradation products HP:0033384 An increased amount of pyridinoline in the urine. 2021-01-02T13:31:16Z Elevated urine hydroxylysyl-pyridinoline level human_phenotype HP:0033385 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Elevated urine pyridinoline level HP:0033385 An increased amount of pyridinoline in the urine. PMID:26306627 Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease. 2021-01-02T13:34:35Z human_phenotype HP:0033386 Abnormal circulating collagen degradation product concentration HP:0033386 An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. 2021-01-02T13:36:47Z human_phenotype HP:0033387 The urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) and hydroxylysyl-pyridinoline (HP, or pyridinoline PYD) are established biochemical markers of osteoclastic bone resorption and collagen degradation. Pyridinolines are formed during fibril formation of type I and type II collagen in the extracellular matrix. Some lysyl- and hydroxylysyl-residues in distinct positions in the collagen triple-helix and in the telopeptides of the tropocollagen are oxidized by lysyl oxidase. Subsequently three of these residues are covalently linked thereby interconnecting tropocollagen molecules and stabilizing the collagen matrix. When bone collagen is degraded, pyridinolines remain as stable degradation products and are secreted with the urine. Depending on whether or not these lysyl residues had been hydroxylated prior to crosslinking, lysyl-pyridinoline (LP) or hydroxylysyl-pyridinoline (HP) is generated. Elevated circulating pyridinoline concentration HP:0033387 An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation. PMID:26306627 Any structural abnormality of a bronchial artery. 2021-01-06T12:20:57Z human_phenotype HP:0033388 The bronchial arteries originate from the systemic circulation and supply the lungs with oxygenated blood. Abnormal bronchial artery morphology HP:0033388 Any structural abnormality of a bronchial artery. PMID:25590386 https://orcid.org/0000-0002-4095-8489 Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. 2021-01-06T12:23:14Z human_phenotype HP:0033389 Bronchopulmonary anastomosis HP:0033389 Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries. PMID:10598843 https://orcid.org/0000-0002-4095-8489 Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. 2021-01-06T12:25:32Z Bronchial artery enlargement Dilatation of a bronchial artery human_phenotype HP:0033390 Bronchial artery dilatation HP:0033390 Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm. PMID:25590386 PMID:32430593 https://orcid.org/0000-0002-4095-8489 Increase in the volume of bronchial artery wall due to the enlargement of its component cells. 2021-01-06T12:29:15Z human_phenotype HP:0033391 The bronchial circulation and other collateral vessels (eg, the intercostal, internal mammary, and inferior phrenic arteries) respond to chronic pulmonary ischemia and decreased pulmonary blood flow through hypertrophy or enlargement in an effort to maintain blood flow to the affected lung and participate in gas exchange through systemic-pulmonary arterial anastomoses that develop beyond the pulmonary artery obstruction. Bronchial artery hypertrophy HP:0033391 Increase in the volume of bronchial artery wall due to the enlargement of its component cells. PMID:25590386 https://orcid.org/0000-0002-4095-8489 Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer). 2021-01-06T12:33:56Z Perivascular inflammation of arterioles in the pulmonary circulation Perivascular inflammation of pre-capillary pulmonary arteries human_phenotype HP:0033392 Perivascular pre-capillary pulmonary artery inflammation HP:0033392 Irregular or changing caliber (diameter) along the tail of the sperm. 2021-01-06T12:41:14Z Sperm flagella with irregular caliber Sperm flagella with irregular calibre human_phenotype HP:0033393 Irregularly shaped sperm tail HP:0033393 Irregular or changing caliber (diameter) along the tail of the sperm. PMID:26472152 Sperm flagella with irregular calibre The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. 2021-01-06T12:53:59Z human_phenotype HP:0033394 Anti-carbonic anhydrase II antibody positivity HP:0033394 The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II. PMID:16932997 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. 2021-01-06T12:57:51Z human_phenotype HP:0033395 Antilactoferrin antibody positivity HP:0033395 The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin. PMID:16932997 https://orcid.org/0000-0002-3387-1836 Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. 2021-01-09T14:19:16Z human_phenotype HP:0033396 Extracapillary fibrin can be associated with glomerular basement membrane (GBM) disruption. In this context, the word aextracapillary refers to abnormalities seen in Bowman's space outside of the GBM. Glomerular extracapillary fibrin HP:0033396 Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina. https://orcid.org/0000-0003-2356-950X The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. 2021-01-09T14:24:54Z human_phenotype HP:0033397 Bowman-space proteinaceous debris HP:0033397 The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space. https://orcid.org/0000-0003-2356-950X Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). 2021-01-09T14:32:56Z human_phenotype HP:0033398 Pleural plaques are indicative of asbestos exposure. Grossly, the pleural plaque is characterized by hyalinized discrete elevated gray-white or pearly areas involving the parietal pleura. Despite varying sizes and shapes, the pattern of the plaques is repetitive. There is a flat or slightly uneven surface, with steep edges rising abruptly from the surrounding normal pleura, and here and there rounded mounds, with somewhat overhanging edges. The thick pleural plaques are typical in appearance, and the classic comparison is to frosting or sugar icing (Zuckerguss), as is seen on serous membranes. Pleural plaque HP:0033398 Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs). PMID:929215 https://orcid.org/0000-0002-4095-8489 Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. 2021-01-09T14:45:19Z human_phenotype HP:0033399 In most patients with fever lasting 1 to 2 weeks, the etiology will be found or the fever will disappear. If fever persists beyond this point, a patient is said to have a said to have fever of undetermined origin. The distinction between 'fever of unknown origin' (FUO) and 'Persistent fever' is that FUO refers to a febrile disease whose cause is yet unknown, and persistent fever is a clinical manifestation of an FUO or of a disease of known etiology that is characterized by fever that last longer than 2-3 weeks. Persistent fever HP:0033399 Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. PMID:14677667 A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. 2021-01-09T14:55:42Z Acute abdominal pain human_phenotype HP:0033400 Acute abdomen HP:0033400 A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction. PMID:29083722 Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. 2021-01-09T15:02:58Z human_phenotype HP:0033401 Tissue ischemia HP:0033401 Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. PMID:10720362 PMID:26858079 Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. 2021-01-09T15:17:21Z human_phenotype HP:0033402 Digital ischemia HP:0033402 Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis. 2021-01-09T15:21:10Z human_phenotype HP:0033403 Testicular ischemia HP:0033403 Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis. PMID:33102026 Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. 2021-01-09T15:23:20Z human_phenotype HP:0033404 Intestinal ischemia HP:0033404 Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain. PMID:30306080 Any deviation from the normal concentration of organic amino compound in the blood circulation. 2021-01-09T15:46:18Z Abnormal circulating organic amino compound concentration Abnormal organic amino compound level human_phenotype HP:0033405 Organic amino compounds are defined as compounds formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. Abnormal circulating organic amino compound concentration HP:0033405 An increased concentration of o-phosphoethanolamine in the blood circulation. 2021-01-09T15:47:21Z Elevated circulating o-phosphoethanolamine concentration human_phenotype HP:0033406 Elevated circulating phosphoethanolamine concentration HP:0033406 Elevated amount of acetoacetic acid in the urine. 2021-01-09T15:59:52Z human_phenotype HP:0033407 Elevated urine acetoacetic acid level HP:0033407 Elevated amount of acetoacetic acid in the urine. PMID:11344564 An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies. 2021-01-09T16:10:08Z human_phenotype HP:0033408 Elevated circulating acetoacetic acid concentration HP:0033408 An increased amount of 2-hydroxybutyric acid in the urine. 2021-01-09T16:16:26Z human_phenotype HP:0033409 Elevated urinary 2-hydroxybutyric acid HP:0033409 The concentration of cartilage oligomeric matrix protein in the blood circulation is above the upper limit of normal. 2021-01-09T16:18:45Z Elevated cartilage oligomeric matrix protein concentration Elevated cartilage oligomeric matrix protein level Elevated cartilage oligomeric matrix protein level in blood Elevated circulating cartilage oligomeric matrix protein concentration Increased cartilage oligomeric matrix protein concentration Increased cartilage oligomeric matrix protein level Increased cartilage oligomeric matrix protein level in blood human_phenotype HP:0033410 Cartilage oligomeric matrix protein (sCOMP) is physiologically located in the extracellular matrix (ECM) of cartilage tissue. It is assumed that sCOMP changes reflect the extrusion of COMP fragments of loaded cartilage tissue. Elevated circulating cartilage oligomeric matrix protein concentration HP:0033410 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities. 2021-01-09T16:29:00Z human_phenotype HP:0033411 Akinesia of the lower extremities Lower extremity akinesia HP:0033411 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities. 2021-01-09T16:29:57Z Akinesia of the upper extremities human_phenotype HP:0033412 Upper extremity akinesia HP:0033412 Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. 2021-01-09T16:33:49Z Hypokinesia of the upper extremities human_phenotype HP:0033413 Upper extremity hypokinesia HP:0033413 Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. 2021-01-09T16:33:56Z Hypokinesia of the lower extremities human_phenotype HP:0033414 Lower extremity hypokinesia HP:0033414 The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. 2021-01-09T16:39:14Z human_phenotype HP:0033415 The diagnosis of cardiac tamponade is a clinical diagnosis that requires prompt recognition and treatment to prevent cardiovascular collapse and cardiac arrest. Cardiac tamponade HP:0033415 The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling. PMID:12917306 PMID:28613742 https://orcid.org/0000-0002-4095-8489 Reduced ability to bring the leg toward the midline of the body. 2021-01-09T16:43:25Z human_phenotype HP:0033416 Hip adductor weakness HP:0033416 Reduced ability to bring the leg toward the midline of the body. PMID:28914719 An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent. 2021-01-09T17:19:59Z human_phenotype HP:0033417 Elevated circulating hydroxybutyric acid concentration HP:0033417 Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. 2021-01-09T17:22:15Z human_phenotype HP:0033418 Elevated circulating 2-hydroxybutyric acid concentration HP:0033418 Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range. PMID:27208342 Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range. 2021-01-09T17:23:23Z human_phenotype HP:0033419 Elevated circulating 3-hydroxybutyric acid concentration HP:0033419 Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. 2021-01-09T17:27:11Z human_phenotype HP:0033420 Pulmonary arterial plexiform lesion HP:0033420 Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels. PMID:8504682 https://orcid.org/0000-0002-4095-8489 Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. 2021-01-09T17:29:20Z human_phenotype HP:0033421 Pulmonary artery intimal thickening HP:0033421 Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%. PMID:23606929 PMID:28025704 https://orcid.org/0000-0002-4095-8489 Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. 2021-01-09T17:30:36Z human_phenotype HP:0033422 Pulmonary artery adventitial fibrosis HP:0033422 Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree. PMID:17008597 PMID:23737168 https://orcid.org/0000-0002-4095-8489 A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at least 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. 2021-01-09T17:33:05Z human_phenotype HP:0033423 Pulmonary arterial hypertension with positive acute response to NO challenge HP:0033423 A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at least 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm. PMID:15939821 A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). 2021-01-09T17:34:32Z human_phenotype HP:0033424 Pulmonary arterial hypertension with lack of acute response to NO challenge HP:0033424 A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). PMID:15939821 Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. 2021-01-09T17:39:47Z human_phenotype HP:0033425 Periungual erythema HP:0033425 Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. 2021-01-09T17:42:24Z Venous air embolism human_phenotype HP:0033426 Pulmonary air embolism HP:0033426 Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation. PMID:9172037 https://orcid.org/0000-0002-4095-8489 Focal accumulation of dilated pulmonary capillaries. 2021-01-09T17:45:06Z human_phenotype HP:0033427 Pulmonary capillary angioectasia HP:0033427 Focal accumulation of dilated pulmonary capillaries. https://orcid.org/0000-0002-4095-8489 Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body. 2021-01-09T17:48:43Z human_phenotype HP:0033428 The main cell types of the innate immune system are monocytes, macrophages, and neutrophils and organ damage is mediated by neutrophils and macrophages. Systemic autoinflammation HP:0033428 Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. 2021-01-09T17:51:49Z human_phenotype HP:0033429 Neuroinflammation HP:0033429 Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. 2021-01-09T17:52:39Z Aseptic meningitis human_phenotype HP:0033430 Non-infectious meningitis HP:0033430 Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines. PMID:33622338 Infection and inflammation of the colon caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. 2021-01-09T17:55:07Z CMV colitis human_phenotype HP:0033431 Patients with CMV colitis present with non-specific symptoms, including diarrhea, abdominal pain, fever, rectal bleeding, and weight loss. Hematochezia and diarrhea are the most frequently observed symptoms in these patients. Cytomegalovirus colitis occurs most commonly in immunocompromised hosts, including acquired immunodeficiency syndrome (AIDS), organ transplantation, hematological malignancy, cancer therapy, and corticosteroid therapy. Cytomegalovirus colitis HP:0033431 Infection and inflammation of the colon caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. PMID:31194388 CMV colitis 2021-01-09T17:57:27Z human_phenotype HP:0033432 An infection that is caused by a virus that would generally not be able to cause an infection in a host with a normal immune system. Such viruses take advantage of the opportunity, so to speak, that is provided by a weakened immune system. Opportunistic viral infection HP:0033432 An erosion of the mucous membrane in the region connecting the ileum and cecum. 2021-01-09T18:11:11Z Ileo-cecal ulcer human_phenotype HP:0033433 Ileocecal ulcer HP:0033433 An erosion of the mucous membrane in the region connecting the ileum and cecum. PMID:28744345 A full-thickness defect of the nasal septum. 2021-01-09T18:14:19Z Nasal-septum perforation Perforation of the nasal septum human_phenotype HP:0033434 Nasal septum perforation HP:0033434 A full-thickness defect of the nasal septum. PMID:30725893 Any deviation from the normal concentration of a keto acid (also called ketoacid or oxo carboxylic acid) in the blood circulation. 2021-01-09T18:24:28Z Abnormal circulating keto acid concentration Abnormal oxo carboxylic acid level human_phenotype HP:0033435 Oxo carboxylic acid (also known as an oxoacid or keto acid) refers to any molecule that contains both a carboxylic acid group (-COOH) and a carbonyl/ketone group (=O) within its structure. Abnormal circulating keto acid concentration HP:0033435 The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal. 2021-01-09T18:25:27Z human_phenotype HP:0033436 Elevated circulating 3-methyl-2-oxovaleric acid concentration HP:0033436 The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal. 2021-01-09T18:28:20Z Increased circulating alpha-ketoisocaproic acid concentration human_phenotype HP:0033437 Elevated circulating 4-methyl-2-oxopentanoic acid concentration HP:0033437 An increased blood concentration of myoglobin. 2021-01-09T18:30:13Z human_phenotype HP:0033438 Elevated circulating myoglobin concentration HP:0033438 An increased blood concentration of myoglobin. PMID:29262167 The concentration of decenoylcarnitine in the blood circulation is above the upper limit of normal. 2021-01-09T18:40:52Z Elevated circulating C10:1 acylcarnitine concentration Elevated circulating O-decenoylcarnitine concentration Elevated circulating decenoylcarnitine concentration Elevated decenoylcarnitine concentration Elevated decenoylcarnitine level Elevated decenoylcarnitine level in blood Elevated plasma decenoylcarnitine, C10:1 Increased decenoylcarnitine concentration Increased decenoylcarnitine level Increased decenoylcarnitine level in blood human_phenotype HP:0033439 Elevated circulating decenoylcarnitine concentration HP:0033439 The concentration of O-octenoylcarnitine in the blood circulation is above the upper limit of normal. 2021-01-09T18:42:59Z Elevated O-octenoylcarnitine concentration Elevated O-octenoylcarnitine level Elevated O-octenoylcarnitine level in blood Elevated circulating C8:1 acylcarnitine concentration Elevated circulating O-octenoylcarnitine concentration Elevated circulating octenoylcarnitine concentration Elevated plasma octenoylcarnitine, C8:1 Increased O-octenoylcarnitine concentration Increased O-octenoylcarnitine level Increased O-octenoylcarnitine level in blood human_phenotype HP:0033440 Elevated circulating octenoylcarnitine concentration HP:0033440 The concentration of hexanoylcarnitine in the blood circulation is above the upper limit of normal. 2021-01-09T18:44:30Z Elevated circulating C6:0 acylcarnitine concentration Elevated circulating O-hexanoylcarnitine concentration Elevated hexanoylcarnitine concentration Elevated hexanoylcarnitine level Elevated hexanoylcarnitine level in blood Elevated plasma hexanoylcarnitine, C6:0 Increased hexanoylcarnitine concentration Increased hexanoylcarnitine level Increased hexanoylcarnitine level in blood human_phenotype HP:0033441 Elevated circulating hexanoylcarnitine concentration HP:0033441 Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal. 2021-01-09T18:45:58Z Elevated circulating C5-DC acylcarnitine concentration Elevated circulating O-glutarylcarnitine concentration Elevated plasma glutarylcarnitine, C5-DC human_phenotype HP:0033442 Elevated circulating glutarylcarnitine concentration HP:0033442 Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal. PMID:15617193 The concentration of propionylcarnitine in the blood circulation is above the upper limit of normal. 2021-01-09T18:50:06Z Elevated C3 acylcarnitine Elevated circulating O-propanoylcarnitine concentration Elevated propionylcarnitine concentration Elevated propionylcarnitine level Elevated propionylcarnitine level in blood Increased propionylcarnitine concentration Increased propionylcarnitine level Increased propionylcarnitine level in blood human_phenotype HP:0033443 Elevated circulating propionylcarnitine concentration HP:0033443 Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal. 2021-01-09T18:51:51Z Elevated circulating O-dodecanoylcarnitine concentration Elevated plasma dodecanoylcarnitine, C12:0 human_phenotype HP:0033444 Elevated circulating dodecanoylcarnitine concentration HP:0033444 An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. 2021-01-09T18:53:21Z human_phenotype HP:0033445 Reduced circulating acylcarnitine concentration HP:0033445 Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal. 2021-01-09T18:58:55Z Elevated circulating O-butyrylcarnitine concentration human_phenotype HP:0033446 Elevated circulating butyrylcarnitine concentration HP:0033446 Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal. 2021-01-09T19:03:03Z Elevated circulating O-isovalerylcarnitine concentration human_phenotype HP:0033447 Elevated circulating isovalerylcarnitine concentration HP:0033447 Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. 2021-01-09T20:30:47Z human_phenotype HP:0033448 Increased mid-arm muscle circumference HP:0033448 Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. PMID:27806975 PMID:27831914 Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. 2021-01-09T20:38:55Z human_phenotype HP:0033449 Decreased mid-arm muscle circumference HP:0033449 Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children. PMID:27806975 PMID:27831914 Any deviation from the normal concentration of prealbumin in the blood circulation. 2021-01-09T20:43:54Z Abnormal circulating prealbumin concentration Abnormal transthyretin level human_phenotype HP:0033450 Prealbumin, a hepatic protein, is a marker for protein malnutrition. Abnormal circulating prealbumin concentration HP:0033450 The concentration of prealbumin in the blood circulation is above the upper limit of normal. 2021-01-09T20:45:47Z Elevated circulating prealbumin concentration Elevated transthyretin concentration Elevated transthyretin level Elevated transthyretin level in blood Increased transthyretin concentration Increased transthyretin level Increased transthyretin level in blood human_phenotype HP:0033451 Elevated circulating prealbumin concentration HP:0033451 HP:0031085 2021-01-09T20:45:53Z human_phenotype HP:0033452 obsolete Decreased circulating prealbumin concentration true HP:0033452 Reduced ability to move the head back towards the ceiling so that one is looking upwards. 2021-01-09T21:40:47Z human_phenotype HP:0033453 Limited neck extension HP:0033453 Feeding problem necessitating food and nutrient delivery via a tube. 2021-01-09T21:48:41Z human_phenotype HP:0033454 Tube feeding HP:0033454 Feeding problem necessitating food and nutrient delivery via a tube. PMID:25874832 PMID:28044031 HP:0003215 2021-01-09T18:03:45Z human_phenotype HP:0033455 obsolete Elevated urinary dicarboxylic acid level true HP:0033455 Increased amount of a keta acid in the urine. 2021-01-09T22:05:22Z human_phenotype HP:0033456 A keta acid is a compound whose molecule contains both a carboxyl group (-COOH) and a ketone group (-CO-). Elevated urine keto acid level HP:0033456 Increased amount of 3-methyl-2-oxovaleric acid in the urine. 2021-01-09T22:07:04Z human_phenotype HP:0033457 Elevated urine 3-methyl-2-oxovaleric acid level HP:0033457 Increased amount of 4-methyl-2-oxopentanoic acid in the urine. 2021-01-09T22:08:13Z Increased urine alpha-ketoisocaproic acid level human_phenotype HP:0033458 Elevated urine 4-methyl-2-oxopentanoic acid level HP:0033458 The concentration of apolipoprotein in the blood circulation is below the lower limit of normal. 2021-01-09T22:14:54Z Decreased apolipoprotein concentration Decreased apolipoprotein level Decreased apolipoprotein level in blood Decreased circulating apolipoprotein concentration Reduced apolipoprotein concentration Reduced apolipoprotein level Reduced apolipoprotein level in blood human_phenotype HP:0033459 Decreased circulating apolipoprotein concentration HP:0033459 The concentration of apolipoprotein in the blood circulation is above the upper limit of normal. 2021-01-09T22:18:42Z Elevated apolipoprotein concentration Elevated apolipoprotein level Elevated apolipoprotein level in blood Elevated circulating apolipoprotein concentration Increased apolipoprotein concentration Increased apolipoprotein level Increased apolipoprotein level in blood human_phenotype HP:0033460 Elevated circulating apolipoprotein concentration HP:0033460 Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation. 2021-01-09T22:23:15Z Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH human_phenotype HP:0033461 Elevated circulating 3-hydroxylinoleylcarnitine concentration HP:0033461 Increased concentration of oleylcarnitine in the blood circulation. 2021-01-09T22:27:17Z Elevated circulating C18:1 acylcarnitine concentration Elevated plasma oleylcarnitine, C18:1 human_phenotype HP:0033462 Elevated circulating oleylcarnitine concentration HP:0033462 HP:0031544 2021-01-09T22:30:56Z human_phenotype HP:0033463 obsolete Elevated circulating palmitoleylcarnitine concentration true HP:0033463 Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal. 2021-01-09T22:32:19Z Elevated circulating 3-OH-palmitoleylcarnitine concentration Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH human_phenotype HP:0033464 Elevated circulating 3-hydroxypalmitoleylcarnitine concentration HP:0033464 Elevated circulating 3-OH-palmitoleylcarnitine concentration The concentration of tetradecanoylcarnitine in the blood circulation is above the upper limit of normal. 2021-01-09T22:34:59Z Elevated circulating C14 carnitine concentration Elevated circulating O-tetradecanoylcarnitine concentration Elevated circulating myristoylcarnitine concentration Elevated tetradecanoylcarnitine concentration Elevated tetradecanoylcarnitine level Elevated tetradecanoylcarnitine level in blood Increased tetradecanoylcarnitine concentration Increased tetradecanoylcarnitine level Increased tetradecanoylcarnitine level in blood human_phenotype HP:0033465 Elevated circulating tetradecanoylcarnitine concentration HP:0033465 Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. 2021-01-09T22:40:44Z human_phenotype HP:0033466 Weak grip HP:0033466 Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. PMID:26055647 A normal APGAR score can be coded as 'not Low 10-minute APGAR score'. 2021-01-09T22:45:03Z human_phenotype HP:0033467 Low 10-minute APGAR score HP:0033467 2021-01-09T22:45:21Z human_phenotype HP:0033468 10-minute APGAR score of 0 HP:0033468 2021-01-09T22:45:27Z human_phenotype HP:0033469 10-minute APGAR score of 1 HP:0033469 2021-01-09T22:45:32Z human_phenotype HP:0033470 10-minute APGAR score of 2 HP:0033470 2021-01-09T22:45:37Z human_phenotype HP:0033471 10-minute APGAR score of 3 HP:0033471 2021-01-09T22:45:44Z human_phenotype HP:0033472 10-minute APGAR score of 4 HP:0033472 2021-01-09T22:45:51Z human_phenotype HP:0033473 10-minute APGAR score of 5 HP:0033473 2021-01-09T22:45:57Z human_phenotype HP:0033474 10-minute APGAR score of 6 HP:0033474 Decreased ability to move the arm away from the midline of the body. 2021-01-09T22:47:42Z human_phenotype HP:0033475 Limited shoulder abduction HP:0033475 Decreased ability to move the arm away from the midline of the body. PMID:32296967 The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. 2021-01-09T22:51:15Z human_phenotype HP:0033476 This is a group of autoantibodies against autoantigens that can be extracted from the cell nucleus with saline. The ENAs consist of ribonucleoproteins and non-histone proteins, named by either the name of the donor who provided the prototype serum (Sm, Ro, La, Jo), or the name of the disease setting in which the antibodies were found (SS-A, SS-B, Scl-70). Extractable nuclear antigen positivity HP:0033476 The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution. PMID:11899137 PMID:16338206 A deviation from the normal concentration of lipoprotein lipase in the blood circulation. 2021-01-09T22:55:35Z human_phenotype HP:0033477 Lipoprotein lipase (LPL) is an extracellular enzyme on the vascular endothelial surface that degrades circulating triglycerides in the bloodstream. These triglycerides are embedded in very low-density lipoproteins (VLDL) and in chylomicrons that travel through the bloodstream. Abnormal circulating lipoprotein lipase concentration HP:0033477 A deviation from the normal concentration of lipoprotein lipase in the blood circulation. PMID:30725725 Increased concentration of lipoprotein lipase in the blood circulation. 2021-01-09T22:56:12Z Elevated lipoprotein lipase level human_phenotype HP:0033478 Increased circulating lipoprotein lipase concentration HP:0033478 Increased concentration of lipoprotein lipase in the blood circulation. PMID:30725725 2021-01-09T23:02:44Z human_phenotype HP:0033479 Abnormal circulating bilirubin concentration HP:0033479 Concentration of bilirubin in the blood circulation below the lower limit of normal. 2021-01-09T23:03:03Z human_phenotype HP:0033480 Hypobilirubinemia HP:0033480 Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder. 2021-01-09T23:05:12Z human_phenotype HP:0033481 Limited lateral neck flexion HP:0033481 A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head. 2021-01-09T23:28:39Z human_phenotype HP:0033482 Limited shoulder flexion HP:0033482 Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. 2021-01-10T12:12:18Z human_phenotype HP:0033483 See Figure 3d of PMID:32393263 and Figures 1 and 2 of PMID:33276871 for examples. Podocyte infolding HP:0033483 Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM. PMID:32393263 PMID:33276871 https://orcid.org/0000-0003-2356-950X Increased concentration of linoleylcarnitine in the blood circulation. 2021-01-10T12:30:41Z Elevated circulating C18:2 acylcarnitine concentration Elevated plasma linoleylcarnitine, C18:2 human_phenotype HP:0033484 Elevated circulating linoleylcarnitine concentration HP:0033484 A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. 2021-01-10T12:39:06Z Disruption of the glomerular basement membrane Glomerular basement membrane rupture human_phenotype HP:0033485 Disruption of the glomerular basement membrane (GBM) may occur in settings of inflammation (ANCA/antiGBM antibodies) or could be seen due to structural weakness of the GBM (Collagen IV disorders). This feature can be associated with extracapillary fibrin. The definition of this term intends to exclude glomeruli at the edge of the core where rupture could be iatrogenic or mechanical. Glomerular basement membrane disruption HP:0033485 A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver. PMID:32866505 https://orcid.org/0000-0003-2356-950X Anomalous appearance or structure of the surface of the glomerular basement membrane. 2021-01-10T12:45:09Z human_phenotype HP:0033486 Abnormal glomerular basement membrane texture HP:0033486 Anomalous appearance or structure of the surface of the glomerular basement membrane. https://orcid.org/0000-0003-2356-950X Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. 2021-01-10T12:47:35Z Glomerular basement membranes with powdery deposit human_phenotype HP:0033487 Glomerular basement membranes powdery deposit HP:0033487 Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane. PMID:32866505 https://orcid.org/0000-0003-2356-950X Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. 2021-01-10T12:54:45Z Glomerular endocapillary hypercellularity consisting of leukocytes human_phenotype HP:0033488 The optimal demonstration of leukocytes may require immunohistochemistry. Glomerular endocapillary leukocyte hypercellularity HP:0033488 Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. https://orcid.org/0000-0003-2356-950X Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. 2021-01-10T12:57:48Z human_phenotype HP:0033489 Glomerular endocapillary neutrophil hypercellularity HP:0033489 Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries. https://orcid.org/0000-0003-2356-950X Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. 2021-01-10T12:59:28Z human_phenotype HP:0033490 Glomerular endocapillary foam-cell hypercellularity HP:0033490 Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space. https://orcid.org/0000-0003-2356-950X A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). 2021-01-10T13:02:15Z human_phenotype HP:0033491 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Global mesangial sclerosis HP:0033491 A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity). https://orcid.org/0000-0003-2356-950X Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. 2021-01-10T13:12:40Z human_phenotype HP:0033492 Podocyte cytoskeletal condensation HP:0033492 Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte. PMID:27102348 https://orcid.org/0000-0003-2356-950X Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. 2021-01-10T13:15:21Z Increased glomerular mesangial matrix human_phenotype HP:0033493 Mesangial matrix expansion HP:0033493 Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas. PMID:32866505 Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. 2021-01-10T13:18:43Z human_phenotype HP:0033494 See Figure 3 of PMID:25852856. Glomerular basement membrane amyloid spicule HP:0033494 Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains. PMID:25852856 PMID:32866505 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. 2021-01-10T13:21:47Z human_phenotype HP:0033495 Glomerular changes can be focal (only in some glomeruli) or diffuse (in all or almost all the glomeruli), and segmental (only a part of the glomerulus) or global (the entire glomerulus). Segmental glomerulosclerosis HP:0033495 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule. https://orcid.org/0000-0003-2356-950X Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. 2021-01-10T13:24:42Z Segmental glomerulosclerosis, perihilar pattern human_phenotype HP:0033496 Perihilar segmental glomerulosclerosis HP:0033496 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule. PMID:27437509 Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. 2021-01-10T13:27:31Z Segmental glomerulosclerosis, tip variant human_phenotype HP:0033497 Tip variant segmental glomerulosclerosis HP:0033497 Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. PMID:27437509 https://orcid.org/0000-0003-2356-950X Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neither the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. 2021-01-10T13:29:02Z human_phenotype HP:0033498 Segmental glomerulosclerosis away from the vascular and tubular poles HP:0033498 Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neither the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed. https://orcid.org/0000-0003-2356-950X Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. 2021-01-10T13:35:30Z human_phenotype HP:0033499 See Figure 1 of PMID:33329990 for an example. Glomerular basement membrane electron dense deposits HP:0033499 Electron-dense deposits in the lamina densa with a ribbon or a sausage structure. PMID:33329990 Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect. 2021-01-10T13:41:11Z human_phenotype HP:0033500 The glomerular filtration barrier consists of two cells (podocytes and endothelial cells) and the glomerular basement membrane (GBM), a specialized extracellular matrix that lies between them. Subendothelial glomerular basement membrane electron dense deposits HP:0033500 Prominent glomerular basement membrane (GBM) reflecting a diffuse and relatively uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM. 2021-01-10T14:16:42Z human_phenotype HP:0033501 Subepithelial glomerular basement membrane electron dense deposits HP:0033501 Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. 2021-01-10T15:09:58Z human_phenotype HP:0033502 Carnitine is a nutrient that is made from the amino acids methionine and lysine. Its primary role is to allow the transport of long-chain fatty acids into the mitochondrial matrix for beta-oxidation and energy production. Carnitine is stored in the skeletal muscle, heart, liver, brain, and kidney and within plasma. Carnitine is also found in the body in several different forms. Abnormal esterified to free carnitine ratio HP:0033502 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. 2021-01-10T14:28:36Z human_phenotype HP:0033503 Elevated CSF fumarate concentration HP:0033503 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. PMID:31290619 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. 2021-01-10T14:29:58Z human_phenotype HP:0033504 Elevated circulating fumarate concentration HP:0033504 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. PMID:31290619 Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. 2021-01-10T14:43:05Z human_phenotype HP:0033505 The distinction to cutis marmorata is that the mottling does not resolve when the skin is warmed, and the discoloration is bluish purple rather than red. The Livedo reticularis lesion is more intense and is persistent. Livedo reticularis HP:0033505 An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. 2021-01-10T15:13:06Z human_phenotype HP:0033506 Increased esterified to free carnitine ratio HP:0033506 A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. 2021-01-10T15:13:37Z human_phenotype HP:0033507 Decreased esterified to free carnitine ratio HP:0033507 Inflammation of the meninges related to infection by Epstein-Barr virus. 2021-01-10T17:16:45Z Epstein-Barr virus meningitis human_phenotype HP:0033508 EBV meningitis HP:0033508 Inflammation of the meninges related to infection by Epstein-Barr virus. PMID:22018204 Inflammation of the brain related to infection by Epstein-Barr virus. 2021-01-10T17:18:31Z Epstein-Barr virus encephalitis human_phenotype HP:0033509 EBV encephalitis HP:0033509 Inflammation of the brain related to infection by Epstein-Barr virus. PMID:22018204 A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. 2021-01-13T12:03:16Z Cornu cutaneum human_phenotype HP:0033510 Cutaneous horn HP:0033510 A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin. PMID:33085427 https://orcid.org/0000-0002-4095-8489 Chronic compulsive drug seeking and continued use despite harmful consequences. 2021-01-13T12:11:53Z Addictive drug use Drug addiction human_phenotype HP:0033511 According to the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), drug addiction may be characterized by manifestations including: (1) The substance is often taken in larger amounts or over a longer period than was intended; (2) A persistent desire or unsuccessful effort to cut down or control use of the substance; (3) substantial time and effort spent to obtain the substance; (4) Craving; (5) Recurrent use of the substance resulting in a failure to fulfill major obligations; (6) Continued use of the substance despite interpersonal problems caused by substance use; (7) Important social, occupational, or recreational activities are given up (8) Recurrent use of the substance even in situations in which it is physically hazardous; (9) Use of the substance despite awareness of its problematic consequences; (10) Tolerance; and (11) Withdrawal symptoms. Addictive substance use HP:0033511 Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing. 2021-01-13T12:19:03Z Stimulant addiction Stimulant dependence human_phenotype HP:0033512 Addictive stimulant use HP:0033512 Addiction to cocaine. 2021-01-13T12:21:42Z Cocaine addiction Cocaine dependence human_phenotype HP:0033513 Addictive cocaine use HP:0033513 Addiction to amphetamine or dextroamphetamine is a serious concern. 2021-01-13T12:23:45Z Amphetamine addiction Amphetamine dependence Dextroamphetamine addiction Dextroamphetamine dependence human_phenotype HP:0033514 Addictive amphetamine use HP:0033514 Addiction to opioids. 2021-01-13T12:25:55Z Opioid addiction Opioid dependence human_phenotype HP:0033515 Addictive opioid use HP:0033515 Addiction to a benzodiazepine. 2021-01-13T12:30:50Z Benzodiazepine dependence human_phenotype HP:0033516 Addictive benzodiazepine use HP:0033516 Addiction to heroin. 2021-01-13T12:32:37Z Heroin addiction Heroin dependence human_phenotype HP:0033517 Addictive heroin use HP:0033517 Addiction to methylphenidate. 2021-01-13T12:33:58Z Methylphenidate addiction Methylphenidate dependence human_phenotype HP:0033518 Methylphenidate is used to treat attention deficit hyperactivity disorder. Addictive methylphenidate use HP:0033518 Addiction to methamphetamine. 2021-01-13T12:36:14Z Methamphetamine addiction Methamphetamine dependence human_phenotype HP:0033519 Addictive methamphetamine use HP:0033519 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. 2021-01-13T13:59:14Z human_phenotype HP:0033520 Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke. Paradoxical embolism HP:0033520 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. PMID:11700487 PMID:12130431 https://orcid.org/0000-0002-0104-692X A lack of humidification of the nasal mucosa. 2021-01-14T12:33:47Z human_phenotype HP:0033521 A dry nose can be associated with multiple causes, for example an underlying disease, medication or age-related changes in nasal physiology and structure. Nasal dryness HP:0033521 A lack of humidification of the nasal mucosa. PMID:12391797 PMID:20465792 https://orcid.org/0000-0003-0113-912X A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. 2021-01-14T13:02:40Z human_phenotype HP:0033522 Cerebral cavernous malformation (CCMs) have been reported to be the second most common vascular malformation of the central nervous system after developmental venous anomalies (DVA). The majority of CCM cases comprises a single lesion with or without associated DVA. These are called sporadic CCMs and are often asymptomatic and nonhereditary. The other type, called hereditary or familial CCM (FCCM), is due to autosomal dominant inherited genetic mutation, associated with multiple lesions. CCM can be found at multiple locations in the central nervous system with supratentorial lesions being more common than the infratentorial lesions. Cerebral cavernous malformation HP:0033522 A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. PMID:30909834 A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. 2021-01-14T13:15:10Z human_phenotype HP:0033523 Abnormal sperm principal piece morphology HP:0033523 A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece. PMID:29024992 Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. 2021-01-14T13:25:38Z human_phenotype HP:0033524 Abnormal sperm axoneme morphology HP:0033524 Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. PMID:31781811 Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. 2021-01-14T13:30:27Z Absent central pair complex (9+0 pattern) human_phenotype HP:0033525 Absent sperm axoneme central pair complex HP:0033525 Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. PMID:31278745 Reduced ability to move the foot up toward the shin. 2021-01-15T12:25:01Z Heel cord tightness Tight heel cord human_phenotype HP:0033526 Limited ankle dorsiflexion HP:0033526 Reduced ability to move the foot up toward the shin. PMID:22506166 PMID:26589087 PMID:27465627 A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). 2021-01-15T12:34:18Z Decreased plasma testosterone-to-androstenedione ratio human_phenotype HP:0033527 Androstenedione is made in the adrenal glands as well as the testes and ovaries. In females, androstenedione is converted to provide around half of all testosterone and almost all estrone. In males, androstenedione is produced by the testes and rapidly converted to testosterone. A low testosterone:androstenedione ratio following hCG stimulation may be a useful method of diagnosing 17beta-hydroxysteroid dehydrogenase-3 (17 betaHSD3) deficiency. Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio HP:0033527 A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin). PMID:10599740 PMID:11155091 A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. 2021-01-15T12:48:17Z human_phenotype HP:0033528 Abnormal cardiac output HP:0033528 A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs. PMID:18771592 PMID:29262215 Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. 2021-01-15T12:50:05Z human_phenotype HP:0033529 Cardiac output (CO) can be further broken down as the product of stroke volume (SV), which is the blood volume ejected by one heartbeat, and heart rate (HR), which is the number of heartbeats per minute. Therefore, the cardiac index can be defined as Cardiac Output / Body Surface Area = (Heart Rate * Stroke Volume) / Body Surface Area. Abnormal cardiac index HP:0033529 Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area. PMID:30969727 https://orcid.org/0000-0002-4095-8489 An elevated cardiac index, defined as cardiac output divided by body surface area. 2021-01-15T12:53:42Z human_phenotype HP:0033530 Increased cardiac index HP:0033530 An elevated cardiac index, defined as cardiac output divided by body surface area. PMID:30969727 https://orcid.org/0000-0002-4095-8489 A reduced cardiac index, defined as cardiac output divided by body surface area. 2021-01-15T12:55:00Z human_phenotype HP:0033531 Decreased cardiac index HP:0033531 A reduced cardiac index, defined as cardiac output divided by body surface area. PMID:30969727 https://orcid.org/0000-0002-4095-8489 A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. 2021-01-15T12:56:38Z human_phenotype HP:0033532 Decreased cardiac output HP:0033532 A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. PMID:18771592 https://orcid.org/0000-0002-4095-8489 An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. 2021-01-15T12:57:43Z human_phenotype HP:0033533 Increased cardiac output HP:0033533 An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat. PMID:18771592 https://orcid.org/0000-0002-4095-8489 An increased concentration of brain natriuretic peptide in the blood circulation. 2021-01-15T12:59:46Z Elevated circulating BNP concentration Increased B-type natriuretic peptide Increased ventricular natriuretic peptide human_phenotype HP:0033534 BNP is a hormone secreted by ventricular cardiomyocytes in response to stretching caused by increased ventricular blood volume. BNP is synthesized as a prohormone (proBNP) comprising 108 amino acids. After the release into the circulation proBNP is cleaved in equimolar amounts into the biologically active BNP (32 amino acid), and the biologically inactive 76 amino acid N-terminal fragment (NT-proBNP). BNP has a number of physiological effects including natriuresis and diuresis, peripheral vasodilation, inhibition of renin angiotensin aldosterone system (RAAS) and the sympathetic nervous system (SNS). Increased circulating brain natriuretic peptide concentration HP:0033534 An increased concentration of brain natriuretic peptide in the blood circulation. PMID:16698841 https://orcid.org/0000-0002-4095-8489 Elevated circulating BNP concentration Decreased number of platelet dense granules, a type of platelet organelle. 2021-01-15T13:04:19Z human_phenotype HP:0033535 Reduced platelet dense granules HP:0033535 Decreased number of platelet dense granules, a type of platelet organelle. PMID:31217188 A reduced number of platelet alpha granules. 2021-01-15T13:05:30Z human_phenotype HP:0033536 Reduced platelet alpha granules HP:0033536 A reduced number of platelet alpha granules. PMID:31217188 Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. 2021-01-15T15:29:22Z human_phenotype HP:0033537 Mosaic attenuation may result from occlusive vascular disease, obstructive small airways disease, pulmonary edema or pulmonary hemorrhage. Mosaic pulmonary attenuation pattern HP:0033537 Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging. PMID:26274445 https://orcid.org/0000-0002-4095-8489 Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. 2021-01-20T12:07:10Z Aortic annular calcification human_phenotype HP:0033538 Anatomically, the aortic annulus (AA) is a complex 3-dimensional (3D) crown-shape structure that is part of the fibrous skeleton of the heart. From a surgical stand point, the AA is generally located at the anatomic ventriculoaortic junction onto which a prosthetic valve can be sewn. Conversely, from an imaging perspective, the annulus corresponds to a virtual ring formed by linking the basal attachments of the 3 aortic leaflets. Aortic annulus calcification HP:0033538 Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract. PMID:16461818 PMID:22699285 PMID:31157994 https://orcid.org/0000-0002-4095-8489 A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. 2021-01-20T12:24:15Z human_phenotype HP:0033539 Bilateral apical fibrosis is a characteristic finding in ankylosing spondylitis. Bilateral apical pulmonary fibrosis HP:0033539 A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray. PMID:16376803 https://orcid.org/0000-0002-4095-8489 Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. 2021-01-20T14:55:01Z Reversible pulmonary obstruction human_phenotype HP:0033540 Reversible airflow obstruction HP:0033540 Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. PMID:16264058 https://orcid.org/0000-0002-4095-8489 Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. 2021-01-20T14:56:25Z Irreversible pulmonary obstruction human_phenotype HP:0033541 Irreversible airflow obstruction HP:0033541 Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL. PMID:16264058 https://orcid.org/0000-0002-4095-8489 Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. 2021-01-21T12:32:16Z Peribronchial cuffing Peribronchial thickening human_phenotype HP:0033542 Bronchial wall thickening HP:0033542 Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. PMID:10555672 PMID:928676 https://orcid.org/0000-0002-4095-8489 Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences. 2021-01-21T12:43:36Z Addictive tobacco use Nicotine dependence human_phenotype HP:0033543 Addictive nicotine use HP:0033543 Extracellular mesangial accumulation of slender proteinaceous fibers. 2021-01-21T13:33:47Z human_phenotype HP:0033544 Mesangial fibril deposition HP:0033544 Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. 2021-01-21T13:36:19Z human_phenotype HP:0033545 Mesangial fibrillary deposits HP:0033545 Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. PMID:32866505 https://orcid.org/0000-0003-2356-950X Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. 2021-01-21T13:38:19Z human_phenotype HP:0033546 Mesangial microfibril deposition HP:0033546 Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins. PMID:32866505 https://orcid.org/0000-0003-2356-950X Extracellular mesangial aggregates composed of non-branching fibrils, focally parallel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. 2021-01-21T13:40:05Z human_phenotype HP:0033547 Mesangial immunotactoid deposits HP:0033547 Extracellular mesangial aggregates composed of non-branching fibrils, focally parallel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination. PMID:2500773 https://orcid.org/0000-0003-2356-950X Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. 2021-01-21T13:43:39Z human_phenotype HP:0033548 Mesangial amyloid deposition HP:0033548 Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. PMID:32866505 https://orcid.org/0000-0003-2356-950X Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. 2021-01-21T13:46:06Z human_phenotype HP:0033549 Nodular mesangiosclerosis is a pattern that can be observed together with mesangolysis but may also occur independently and so should be coded separately. Nodular mesangiosclerosis HP:0033549 Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei. https://orcid.org/0000-0003-2356-950X A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. 2021-01-22T12:12:26Z Caseating pulmonary granulomatosis human_phenotype HP:0033550 In hematoxylin and eosin stain staining, necrotizing pulmonary granulomatosis is characterized by acellular pink areas of necrosis surrounded by a granulomatous inflammatory process. Necrotizing pulmonary granulomatosis HP:0033550 A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese. PMID:26040776 https://orcid.org/0000-0002-0104-692X A granuloma located in the lung that is not associated with necrotic changes. 2021-01-22T12:14:53Z Non-caseating pulmonary granulomatosis human_phenotype HP:0033551 Non-necrotizing pulmonary granulomatosis HP:0033551 A granuloma located in the lung that is not associated with necrotic changes. https://orcid.org/0000-0003-0113-912X Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis. 2021-01-22T12:38:39Z Chronic villitis (non-infectious) Nonspecific chronic villitis Villitis of unknown aetiology Villitis of unknown etiology human_phenotype HP:0033552 Chronic villitis HP:0033552 Villitis of unknown aetiology Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. 2021-01-22T12:51:18Z Septic emboli human_phenotype HP:0033553 Septic embolism HP:0033553 Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system. PMID:31751017 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. 2021-01-23T11:39:19Z human_phenotype HP:0033554 The Mi-2 antigen is a nuclear antigen, component of the Nucleosome Remodelling-Deacetylase (NuRD) complex involved in transcription regulation. Autoantibodies targeting the Mi-2 nuclear antigen are a serologic hallmark of idiopathic inflammatory myopathies, with a diagnostic sensitivity and specificity of approximately 4-18% and 98-100%, respectively. They are most strongly associated with dermatomyositis and correlate with HLA-DR7. Anti-Mi2 antibody positivity HP:0033554 The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen. PMID:30938432 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. 2021-01-23T11:41:41Z Anti-Ro/SSA antibody positivity human_phenotype HP:0033555 Anti-Ro/SS-A antibodies alone are found in 50-70% of Sjoegren syndrome and 30% of systemic lupus erythematosus (SLE) with cutaneous involvement. Anti-Ro/SS-A antibody positivity HP:0033555 The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. PMID:1522616 PMID:15804706 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62. 2021-01-23T11:50:09Z Anti-p62 antibody positivity human_phenotype HP:0033556 Anti-nucleoporin 62 antibody is an antibody directed against components of the nuclear membrane and is typically found in primary biliary cirrhosis. Anti-nucleoporin 62 antibody positivity HP:0033556 Anti-p62 antibody positivity The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils 2021-01-23T12:05:09Z Anti-PR3 antibody positivity human_phenotype HP:0033557 PR3 directed c-ANCA antibodies are present in 80-90% of granulomatosis with polyangiitis, 20-40% of microscopic polyangiitis, 20-40% of pauci-immune crescentic glomerulonephritis and 35% of eosinophilic granulomatosis with polyangiitis. Anti-proteinase 3 antibody positivity HP:0033557 The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils PMID:9463400 https://orcid.org/0000-0002-4095-8489 Anti-PR3 antibody positivity The presence of autoantibodies in the blood circulation that react against histone antigens. 2021-01-23T12:10:03Z human_phenotype HP:0033558 Anti-histone antibodies are found in the serum of up to 75-95% of people with drug-induced lupus and 75% of idiopathic SLE and less frequently in scleroderma, rheumatoid arthritis and undifferentiated connective tissue disease. Anti-histone antibody positivity HP:0033558 The presence of autoantibodies in the blood circulation that react against histone antigens. PMID:15096389 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against myeloperoxidase. 2021-01-23T12:16:50Z Anti-MPO antibody positivity Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody MPO-ANCA human_phenotype HP:0033559 MPO-ANCA are host-derived autoantibodies against shielded neutrophilic antigens. These antibodies react against primary granules present in neutrophils and monocytes. The formation of these antibodies has been hypothesized to be a two-step process. The first step involves exposure of neutrophils to inflammatory cytokines leading to surface exposure of cryptogenic antigens like myeloperoxidase or MPO. Next, predisposing genetic, environmental, and other factors result in the production of MPO-ANCA. In the second step, these MPO-ANCA cause damage to the host vasculature by reacting and crosslinking neutrophils to the endothelial receptors. Anti-myeloperoxidase antibody positivity HP:0033559 The presence of autoantibodies in the blood circulation that react against myeloperoxidase. PMID:30767872 https://orcid.org/0000-0002-4095-8489 Anti-MPO antibody positivity MPO-ANCA Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. 2021-01-23T12:21:25Z Anti-PM/Scl antibody positivity human_phenotype HP:0033560 Anti-PM-Scl antibodies are found in up to 50% of polymyositis/systemic sclerosis (PM/SSc) overlap syndrome. Around 80% of individuals with antibodies present in their blood serum will have the disorder. The presence of the antibodies is linked to limited cutaneous involvement of PM/SSc overlap syndrome. Anti-PM-Scl antibody positivity HP:0033560 Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40. PMID:17643929 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. 2021-01-23T12:25:21Z Anti-BPI antibody positivity human_phenotype HP:0033561 Anti-bactericidal/permeability-increasing protein antibody positivity HP:0033561 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies. PMID:31508255 https://orcid.org/0000-0002-4095-8489 Anti-BPI antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. 2021-01-23T12:35:51Z Anti-gp210 antibody positivity human_phenotype HP:0033562 Anti-glycoprotein-210 antibody is an antibody directed against components of the nuclear membrane and is found in primary biliary cirrhosis. Anti-glycoprotein-210 antibody positivity HP:0033562 The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210. PMID:23814122 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. 2021-01-23T12:45:46Z Anti-tTG antibody positivity human_phenotype HP:0033563 Anti-tissue transglutaminase antibody positivity HP:0033563 The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. PMID:33259121 https://orcid.org/0000-0002-4095-8489 Anti-tTG antibody positivity Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. 2021-01-23T12:54:26Z Varicose eczema Venous eczema human_phenotype HP:0033564 Stasis dermatitis HP:0033564 Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus. PMID:28063094 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. 2021-01-23T13:00:15Z Anti-TG3 antibody Anti-eTG antibody positivity Anti-epidermal transglutaminase (anti-eTG) antibody Anti-keratinocyte transglutaminase human_phenotype HP:0033565 Anti-epidermal transglutaminase antibody positivity HP:0033565 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase. PMID:18503599 Anti-eTG antibody positivity Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. 2021-01-24T13:37:25Z Abnormal QRS axis human_phenotype HP:0033566 The normal adult QRS axis is between -30 degrees and +90 degrees, which is directed downward and to the left. Abnormal ventricular axis HP:0033566 Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization. PMID:29262101 A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. 2021-01-24T13:39:18Z Electrical right axis deviation RAD human_phenotype HP:0033567 Right axis deviation HP:0033567 A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used. PMID:29262101 RAD A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. 2021-01-24T13:42:00Z Electrical left axis deviation human_phenotype HP:0033568 Left axis deviation HP:0033568 A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. PMID:29262101 A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. 2021-01-24T13:43:17Z human_phenotype HP:0033569 Extreme axis deviation HP:0033569 A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right. PMID:29262101 A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. 2021-01-24T13:44:44Z human_phenotype HP:0033570 Indeterminate ventricular axis HP:0033570 A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection. PMID:29262101 The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. 2021-01-24T13:48:10Z human_phenotype HP:0033571 Peripheral lung neovascularity HP:0033571 The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy. PMID:16267251 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against histone H1. 2021-01-24T13:51:55Z human_phenotype HP:0033572 Anti-H1 antibody positivity HP:0033572 The presence of autoantibodies in the blood circulation that react against histone H1. https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against histone H4. 2021-01-24T13:56:03Z human_phenotype HP:0033573 Anti-H4 antibody positivity HP:0033573 The presence of autoantibodies in the blood circulation that react against histone H4. https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against histone H3. 2021-01-24T13:56:48Z human_phenotype HP:0033574 Anti-H3 antibody positivity HP:0033574 The presence of autoantibodies in the blood circulation that react against histone H3. https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against histone H2A. 2021-01-24T13:57:33Z human_phenotype HP:0033575 Anti-H2A antibody positivity HP:0033575 The presence of autoantibodies in the blood circulation that react against histone H2A. https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against histone H2B. 2021-01-24T13:58:22Z human_phenotype HP:0033576 Anti-H2B antibody positivity HP:0033576 The presence of autoantibodies in the blood circulation that react against histone H2B. https://orcid.org/0000-0002-4095-8489 Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. 2021-01-24T14:06:23Z human_phenotype HP:0033577 In situ pulmonary artery thrombosis HP:0033577 Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease. PMID:15194174 PMID:15194175 PMID:16899857 PMID:6148159 https://orcid.org/0000-0002-4095-8489 Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). 2021-01-24T14:20:32Z Precapillary pulmonary hypertension human_phenotype HP:0033578 Pre-capillary pulmonary hypertension HP:0033578 Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg). PMID:30545968 https://orcid.org/0000-0002-4095-8489 Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. 2021-01-24T14:55:47Z Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge human_phenotype HP:0033579 Decreased growth hormone responses to growth hormone-releasing hormone challenge HP:0033579 Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. PMID:21651393 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). 2021-01-24T16:18:16Z human_phenotype HP:0033580 Compound motor action potential abnormality HP:0033580 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV). PMID:15961865 PMID:26744834 The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. 2021-01-24T16:35:05Z human_phenotype HP:0033581 Absent peripheral lymph nodes in presence of infection HP:0033581 Abnormal accumulation of lymphocytes in the interstitium of the lung. 2021-01-27T20:32:20Z human_phenotype HP:0033582 Pulmonary interstitial lymphocyte infiltration HP:0033582 Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. 2021-01-27T20:37:56Z human_phenotype HP:0033583 Lymphocytic interstitial pneumonia (LIP) and follicular bronchiolitis (FB) are assumed to be pathological immunologic responses to different triggers and are particularly associated with autoimmune and infectious diseases as well as immunodeficiency. LIP can be defined as a dense, predominantly lymphocytic interstitial infiltrate that expands alveolar septa. In contrast, FB can be defined as a pattern of numerous lymphoid follicles associated with bronchioles and the immediate peribronchiolar interstitium. A grading system can be use to assess presence and extent of LIP and FB. Lymphocyte aggregates are defined as the aggregation of 50 or more lymphocytes per high-power field. Tissue was scored as grade 0 in the absence of lymphocyte aggregates, grade 1 with 0 to 1 aggregate/10 mm 2 , grade 2 with greater than 1 aggregate/10 mm 2 , grade 3 with greater than 1 aggregate/10 mm 2 and the presence of focal lymphoid interstitial pneumonia, and grade 4 with greater than 1 aggregate/10 mm 2 and the presence of diffuse LIP. Follicular bronchiolitis HP:0033583 Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. PMID:32040879 PMID:32047693 https://orcid.org/0000-0003-0113-912X Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. 2021-01-27T20:40:09Z NSIP Nonspecific interstitial pneumonitis Temporally uniform pulmonary inflammation human_phenotype HP:0033584 Nonspecific interstitial pneumonia HP:0033584 Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. PMID:30085516 https://orcid.org/0000-0003-0113-912X NSIP A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. 2021-01-27T20:44:16Z human_phenotype HP:0033585 Fibrotic non-specific interstitial pneumonia HP:0033585 A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation. PMID:30085516 https://orcid.org/0000-0003-0113-912X A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. 2021-01-27T20:46:02Z human_phenotype HP:0033586 Cellular non-specific interstitial pneumonia HP:0033586 A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia. https://orcid.org/0000-0003-0113-912X A circumscribed area of pus or necrotic debris in the vulvar region. 2021-01-27T21:11:53Z human_phenotype HP:0033587 Vulvar abscess HP:0033587 A circumscribed area of pus or necrotic debris in the vulvar region. PMID:27617247 Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. 2021-01-27T21:15:27Z Labial agglutination Synechia vulvae human_phenotype HP:0033588 Labial adhesion HP:0033588 Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline. PMID:17364294 PMID:29262197 Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. 2021-01-27T21:29:30Z human_phenotype HP:0033589 Flatulence HP:0033589 Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. PMID:27275398 A circumscribed area of pus or necrotic debris in the groin (inguinal region). 2021-01-28T02:06:20Z Groin abscess human_phenotype HP:0033590 Inguinal abscess HP:0033590 A circumscribed area of pus or necrotic debris in the groin (inguinal region). PMID:23537455 Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. 2021-01-28T02:08:09Z Staghorn renal stone human_phenotype HP:0033591 Staghorn calculus HP:0033591 Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system. PMID:29658394 The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. 2021-01-28T02:13:35Z human_phenotype HP:0033592 Anti-H3-H4 antibody positivity HP:0033592 The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer. PMID:1864977 PMID:3874029 PMID:7986226 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. 2021-01-28T02:15:22Z human_phenotype HP:0033593 Anti-H2A-H2B antibody positivity HP:0033593 The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer. PMID:7986226 https://orcid.org/0000-0002-4095-8489 An abnormally increased amount of 7-biopterin in the urine. 2021-01-30T13:02:41Z Primapterinuria human_phenotype HP:0033594 Elevated urinary 7-biopterin level HP:0033594 An abnormally increased amount of 7-biopterin in the urine. PMID:9585615 Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. 2021-01-30T13:16:58Z Elevated circulating ceramidetrihexoside concentration human_phenotype HP:0033595 Elevated circulating globotriaosylceramide concentration HP:0033595 Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. PMID:17073606 An abnormally increased amount of 3-methylcrotonylglycine in the urine. 2021-01-30T13:24:46Z human_phenotype HP:0033596 Elevated urinary 3-methylcrotonylglycine level HP:0033596 Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. 2021-01-30T13:48:50Z human_phenotype HP:0033597 Sucrase-isomaltase has two subunits, sucrase and isomaltase. Isomaltase cleaves branched (1-6 linked) alpha-limit dextrins, while sucrase digests sucrose, maltose, short 1-4 linked glucose oligomers, and some branched starches into sugar monomers for intestinal absorption. Deficiency of this enzyme can lead to osmotic diarrhea, mild steatorrhea, chronic diarrhea, irritability, and vomiting after consuming sucrose. Decreased mucosal sucrase-isomaltase activity HP:0033597 Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. PMID:16329100 Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:16:36Z human_phenotype HP:0033598 Fibrillar glomerular subepithelial deposits HP:0033598 Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). https://orcid.org/0000-0003-2356-950X A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:44:51Z human_phenotype HP:0033599 Glomerular amyloid subepithelial deposits HP:0033599 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). PMID:25852856 https://orcid.org/0000-0003-2356-950X A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:47:50Z human_phenotype HP:0033600 Fibrillary glomerular subepithelial deposits HP:0033600 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). PMID:32866505 https://orcid.org/0000-0003-2356-950X A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:51:36Z human_phenotype HP:0033601 Glomerular subepithelial immune-complex deposits HP:0033601 A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). PMID:32866505 https://orcid.org/0000-0003-2356-950X A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:54:52Z human_phenotype HP:0033602 Glomerular hyaline subepithelial deposits HP:0033602 A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). https://orcid.org/0000-0003-2356-950X Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). 2021-01-30T14:55:42Z human_phenotype HP:0033603 Glomerular subepithelial deposits HP:0033603 Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate). PMID:30085237 Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. 2021-01-30T16:24:44Z human_phenotype HP:0033604 Glomerular capillary wire loop deposits HP:0033604 Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop. PMID:32866505 A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. 2021-01-30T16:59:06Z human_phenotype Pustulosis HP:0033605 Pustular rash HP:0033605 A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. PMID:25805031 Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. 2021-01-30T21:26:37Z Haematopoietic maturation arrest Hematopoietic maturation arrest human_phenotype HP:0033606 Bone marrow maturation arrest HP:0033606 Haematopoietic maturation arrest A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. 2021-01-30T21:32:32Z human_phenotype HP:0033607 Bone marrow arrest at the promyelocytic stage HP:0033607 A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. PMID:26456767 Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. 2021-01-30T22:05:25Z Spot on the lung human_phenotype HP:0033608 Pulmonary nodule HP:0033608 Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging. PMID:26977460 https://orcid.org/0000-0002-4095-8489 Spot on the lung A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. 2021-01-30T22:14:34Z human_phenotype HP:0033609 Solid pulmonary nodule HP:0033609 A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance. PMID:29143191 Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. 2021-01-30T22:17:33Z human_phenotype HP:0033610 Subsolid pulmonary nodule HP:0033610 Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention. PMID:24100062 Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. 2021-01-30T22:22:54Z human_phenotype HP:0033611 Part-solid pulmonary nodule HP:0033611 Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized. PMID:24100062 https://orcid.org/0000-0002-4095-8489 Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. 2021-01-30T22:26:04Z human_phenotype HP:0033612 Pure ground-glass pulmonary nodule HP:0033612 Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed. PMID:24100062 https://orcid.org/0000-0002-4095-8489 Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. 2021-01-30T22:28:48Z human_phenotype HP:0033613 Perifissural pulmonary nodule HP:0033613 Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes. PMID:20177105 https://orcid.org/0000-0002-4095-8489 Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. 2021-01-30T22:30:23Z human_phenotype HP:0033614 Tracheal bronchus HP:0033614 Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. PMID:11158647 PMID:19332762 https://orcid.org/0000-0002-4095-8489 Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. 2021-01-30T22:31:43Z human_phenotype HP:0033615 Displaced tracheal bronchus HP:0033615 Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus. PMID:11158647 PMID:19332762 https://orcid.org/0000-0002-4095-8489 Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. 2021-01-30T22:33:01Z human_phenotype HP:0033616 Accessory cardiac bronchus HP:0033616 Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended. PMID:11158647 https://orcid.org/0000-0002-4095-8489 Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. 2021-01-30T22:34:18Z human_phenotype HP:0033617 Supernumerary tracheal bronchus HP:0033617 Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus. PMID:11158647 PMID:19332762 https://orcid.org/0000-0002-4095-8489 Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. 2021-01-30T22:35:48Z Bronchus suis Pig bronchus human_phenotype HP:0033618 Displaced lobar tracheal bronchus HP:0033618 Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus. PMID:11158647 PMID:19332762 https://orcid.org/0000-0002-4095-8489 A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). 2021-01-30T22:37:54Z human_phenotype HP:0033619 Typical perifissural nodule HP:0033619 A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical). https://orcid.org/0000-0002-4095-8489 A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). 2021-01-30T22:39:18Z human_phenotype HP:0033620 Atypical perifissural nodule HP:0033620 A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical). https://orcid.org/0000-0002-4095-8489 Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. 2021-01-30T22:43:23Z human_phenotype HP:0033621 Bronchial diverticula HP:0033621 Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum. PMID:18544671 PMID:27867581 https://orcid.org/0000-0002-4095-8489 A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. 2021-01-30T23:00:04Z human_phenotype HP:0033622 Migratory erythematous plaque HP:0033622 A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin. PMID:31736939 Information about the delivery and health status at birth typically elicited as a part of the past medical history. 2021-01-30T23:06:26Z human_phenotype HP:0033623 Birth history HP:0033623 A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. 2021-01-30T23:08:18Z History of congenital cytomegalovirus infection human_phenotype HP:0033624 History of congenital CMV infection HP:0033624 A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits. PMID:29503048 A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening. 2021-01-30T23:12:23Z human_phenotype HP:0033625 It is difficult to give a precise definition of emotional insecurity, but it has been defined as deficits in emotional reactivity (inability to develop an attitude of resistance or vigilance in the presence of potentially threatening situations), behavior regulation (inappropriate behavioral response to threatening situations characterized by either overinvolvement in the situation or by the avoidance of it), and inappropriate internal representations (exaggerated conscious or unconscious schemas of potential danger). Emotional insecurity HP:0033625 Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). 2021-01-30T23:17:23Z Elevated non-HDL cholesterol concentration human_phenotype HP:0033626 Increased non-HDL cholesterol concentration HP:0033626 Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol). HPO_CONTRIBUTOR:RGD_gthayman PMID:1596847 Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. 2021-01-30T23:27:07Z human_phenotype HP:0033627 Increased urine harderoporphyrin level HP:0033627 Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:31085196 Intermittent abdominal pain with diarrhea and/or constipation. 2021-01-30T23:29:34Z human_phenotype HP:0033628 Bowel irritability HP:0033628 Intermittent abdominal pain with diarrhea and/or constipation. OMIM:ahamosh The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. 2021-01-31T18:32:57Z human_phenotype HP:0033629 IgG4 autoimmune antibody positivity HP:0033629 The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues. PMID:29483905 Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. 2021-01-31T18:36:08Z Mental clouding Mental fatigue Mental fog human_phenotype HP:0033630 Brain fog has been reported in a range of diseases including myalgic encephalomyelitis/chronic fatigue syndrome, non-celiac gluten disease, postural tachycardia syndrome, lupus, and COVID-19. Brain fog HP:0033630 Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously. PMID:23999934 PMID:30452327 PMID:32857796 PMID:32984564 PMID:33199820 Inflammation of the vertebrae (vertebral bodies) or spine. 2021-02-01T13:12:34Z human_phenotype HP:0033631 Spondylitis HP:0033631 Inflammation of the vertebrae (vertebral bodies) or spine. PMID:22859929 Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath maneuver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. 2021-02-01T13:14:58Z human_phenotype HP:0033632 Only a portion of each tidal volume (Vt) reaches the alveoli and participates in gas exchange. This is referred to as the alveolar volume (Va). The remainder, the so-called dead space volume (Vd), consists of gas that fills the upper and lower airways (anatomic dead space) or reaches nonperfused or relatively poorly perfused alveoli (alveolar dead space). Abnormal alveolar volume HP:0033632 Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath maneuver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas. PMID:25706496 PMID:28049168 https://orcid.org/0000-0002-4095-8489 An abnormal reduction in alveolar volume. 2021-02-01T13:16:28Z human_phenotype HP:0033633 Decreased alveolar volume HP:0033633 An abnormal elevation in alveolar volume. 2021-02-01T13:19:09Z human_phenotype HP:0033634 Increased alveolar volume HP:0033634 Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). 2021-02-01T13:21:16Z Postcapillary pulmonary hypertension human_phenotype HP:0033635 Post-capillary hypertension resulting from left heart disease causes backpressure and increases the hydrostatic pressure in the pulmonary veins which eventually results in increased pressure in pulmonary arteries. Post-capillary pulmonary hypertension HP:0033635 Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units). PMID:30545968 https://orcid.org/0000-0002-4095-8489 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). 2021-02-01T14:58:09Z human_phenotype HP:0033636 Combined pre- and post-capillary pulmonary hypertension HP:0033636 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units). PMID:30545968 https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). 2021-02-03T13:26:13Z Anti-transglutaminase 2 antibody positivity human_phenotype HP:0033637 Anti-endomysial antibody positivity HP:0033637 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2). PMID:9518950 https://orcid.org/0000-0002-4095-8489 Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. 2021-02-03T13:28:12Z Intralobular lines human_phenotype HP:0033638 Intralobular lines may be seen in various conditions, including interstitial fibrosis and alveolar proteinosis. Intralobular septal thickening HP:0033638 Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. PMID:18195376 PMID:27852954 https://orcid.org/0000-0002-4095-8489 Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. 2021-02-03T13:30:30Z Septic pulmonary emboli human_phenotype HP:0033639 Septic pulmonary embolism HP:0033639 Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations. PMID:12244005 https://orcid.org/0000-0002-4095-8489 Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. 2021-02-24T12:37:00Z human_phenotype HP:0033640 Acetabular erosions HP:0033640 Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. PMID:8793927 Deposition of calcium salts in the leaflets (cusps) of the aortic valve. 2021-02-03T13:39:04Z Aortic cusp calcification Aortic valve cusp calcification human_phenotype HP:0033641 Aortic valve leaflet calcification HP:0033641 Deposition of calcium salts in the leaflets (cusps) of the aortic valve. PMID:22896576 https://orcid.org/0000-0002-4095-8489 Deposition of calcium salts in the leaflets (cusps) of the mitral valve. 2021-02-03T13:41:58Z human_phenotype HP:0033642 Mitral valve leaflet calcification HP:0033642 Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. 2021-02-24T12:39:07Z Increased plasma levels of very long-chain fatty acid human_phenotype HP:0033643 Increased circulating very long-chain fatty acid concentration HP:0033643 Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. PMID:9345094 Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. 2021-02-24T12:41:03Z Elevated circulating erythropoietin human_phenotype HP:0033644 Elevated circulating erythropoietin concentration HP:0033644 Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. PMID:30725682 A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. 2021-02-24T12:43:08Z human_phenotype HP:0033645 Midline brainstem cleft HP:0033645 A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. PMID:19933510 PMID:32779696 Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. 2021-02-24T12:45:21Z Agenesis of the hippocampal commissure human_phenotype HP:0033646 Absent hippocampal commissure HP:0033646 Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. PMID:28250456 The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. 2021-02-24T12:47:22Z human_phenotype HP:0033647 The silhouette sign is not always indicative of disease (eg, unexplained absence of right border of heart is seen in association with pectus excavatum and sometimes in healthy individuals). See Figure 67 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Silhouette sign HP:0033647 The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette. PMID:18195376 A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. 2021-02-24T12:49:36Z human_phenotype HP:0033648 See Figure 57 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary pseudocavity HP:0033648 A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia. PMID:18195376 Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. 2021-02-24T12:52:39Z Distal acinar emphysema human_phenotype HP:0033649 See Figure 47 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Paraseptal emphysema HP:0033649 Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. PMID:18195376 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. 2021-02-24T12:54:55Z human_phenotype HP:0033650 See Figure 48 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary parenchymal band HP:0033650 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos. PMID:18195376 A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. 2021-02-24T12:56:44Z Lung fungus ball human_phenotype HP:0033651 See Figure 40 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary mycetoma HP:0033651 A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma. PMID:18195376 Lung fungus ball A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis 2021-02-24T12:58:44Z human_phenotype HP:0033652 See Figure 15 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Broncholith HP:0033652 A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis PMID:18195376 A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. 2021-02-24T13:34:13Z human_phenotype HP:0033653 See Figure 13 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Bronchocele HP:0033653 A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion. PMID:18195376 Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. 2021-02-24T13:44:52Z human_phenotype HP:0033654 The beaded septum sign is frequently seen in lymphangitic spread of cancer and less often in sarcoidosis. See Figure 10 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Beaded septum sign HP:0033654 Irregular and nodular thickening of interlobular septa reminiscent of a row of beads. PMID:18195376 A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. 2021-02-24T13:46:26Z Pulmonary cavern Pulmonary cavitation human_phenotype HP:0033655 A cavity has been defined in the radiology literature as (pathologically) a gas-filled space within a zone of pulmonary consolidation or within a mass or nodule, produced by the expulsion of a necrotic part of the lesion via the bronchial tree and (radiographically) a lucency within a zone of pulmonary consolidation, a mass, or a nodule; hence, a lucent area within the lung that may or may not contain a fluid level and that is surrounded by a wall, usually of varied thickness. A pulmonary cavity can be caused by microorganisms (bacteria including mycobacteria, funghi, viruses, parasites), malignant processes or autoimmune disorders. Pulmonary cavity HP:0033655 A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick. PMID:18195376 PMID:18400799 PMID:29518379 A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. 2021-02-24T13:48:30Z human_phenotype HP:0033656 See Figure 32 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Juxtaphrenic peak HP:0033656 A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament. PMID:18195376 Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. 2021-02-24T13:50:10Z Discoid atelectasis Platelike atelectasis human_phenotype HP:0033657 See Figure 33 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Linear atelectasis HP:0033657 Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm. PMID:18195376 Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. 2021-02-24T13:51:58Z Blesovsky syndrome Comet tail sign Folded lung syndrome Helical atelectasis Pleural pseudotumor Pleuroma human_phenotype HP:0033658 See Figure 65 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Rounded atelectasis HP:0033658 Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung. PMID:18195376 HP:0025391 2021-02-27T14:32:03Z human_phenotype HP:0033659 obsolete Crazy-paving pattern true HP:0033659 Tingling (often referred to as a pins and needles feeling) and numbness in the hand. 2021-02-27T14:33:17Z Hand tingling human_phenotype HP:0033660 Hand paresthesia HP:0033660 Hand tingling An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. The crescent can be seen in both plain X-ray and CT scan. 2021-02-27T14:34:38Z HP:0032172 Air crescent sign human_phenotype HP:0033661 See Figure 3 of PMID:181953762. The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid. Air crescent HP:0033661 An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer. The crescent can be seen in both plain X-ray and CT scan. PMID:18195376 PMID:26312141 An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). 2021-02-27T14:36:01Z human_phenotype HP:0033662 See Figure 2 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Air bronchogram HP:0033662 An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). PMID:18195376 Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse. 2021-02-27T14:37:46Z human_phenotype HP:0033663 Differentiation from areas of decreased attenuation resulting from hypoperfusion as a consequence of an occlusive vascular disorder (eg, chronic thromboembolism) may be problematic, but other findings of airways versus vascular disease are usually present. See Figure 4 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Air trapping HP:0033663 Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse. PMID:18195376 Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells. 2021-02-28T14:45:46Z NCIT:C3788 human_phenotype HP:0033664 Gangliogliomas are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. Ganglioglioma HP:0033664 Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells. PMID:25408925 https://orcid.org/0000-0002-1735-8178 A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. 2021-02-28T14:48:04Z human_phenotype HP:0033665 Diminished health-related quality of life HP:0033665 A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles. PMID:18638419 PMID:19282701 A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. 2021-02-28T14:50:02Z Decline in physical functional health Diminished physical health human_phenotype HP:0033666 Diminished physical functioning HP:0033666 A reduction in the subjective feeling of mental well being. 2021-02-28T14:50:58Z Mental impairment Reduced mental health human_phenotype HP:0033667 The WHO defines mental health as a state of well-being in which the individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively and fruitfully, and is able to make a contribution to his or her community. Thus, mental health is not a state of absence of mental illness. Mental health has been defined on the basis of three components of mental health: emotional well-being, psychological well-being and social well-being. Alternatively, mental health can be defined as a dynamic state of internal equilibrium which enables individuals to use their abilities in harmony with universal values of society. Attempts to measure mental health in as objective a fashion as possible may involve questionnaires such as the 36-item Short Form (SF-36) health survey questionnaire. Impaired mental health is characterized by a reduction in the mental component score (MCS). Diminished mental health HP:0033667 A reduction in the subjective feeling of mental well being. PMID:22654934 PMID:26043341 A structural anomaly of the amygdala. 2021-02-28T14:53:43Z Abnormal morphology of the amygdala human_phenotype HP:0033668 The amygdala is a centrally located brain region that plays fundamental roles in human emotion, memory, and various homeostatic responses. Situated in the rostral part of the temporal lobe and abutting the basal forebrain, the human amygdala is closely connected with olfactory structures, the hippocampal formation, basal ganglia, basal forebrain components including ventral striatum and nucleus basalis, insula, claustrum, hypothalamus, and various thalamic nuclei. The amygdala contributes to white matter tracts that stream nearby, including the anterior commissure, inferior longitudinal fasciculus, stria terminalis, and uncinate fasciculus. Abnormal amygdala morphology HP:0033668 The amygdala is a centrally located brain region that plays fundamental roles in human emotion, memory, and various homeostatic responses. Situated in the rostral part of the temporal lobe and abutting the basal forebrain, the human amygdala is closely connected with olfactory structures, the hippocampal formation, basal ganglia, basal forebrain components including ventral striatum and nucleus basalis, insula, claustrum, hypothalamus, and various thalamic nuclei. The amygdala contributes to white matter tracts that stream nearby, including the anterior commissure, inferior longitudinal fasciculus, stria terminalis, and uncinate fasciculus. PMID:29186501 A increase in the volume (size) of the amygdyla. 2021-02-28T14:56:54Z Amygdalar enlargement human_phenotype HP:0033669 Amygdalar enlargement is observed in a minority of people with intractable temporal lobe epilepsy. Enlarged amygdala HP:0033669 A increase in the volume (size) of the amygdyla. PMID:12933928 PMID:21047879 PMID:33044668 https://orcid.org/0000-0002-1735-8178 Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. 2021-02-28T14:59:16Z human_phenotype HP:0033670 See Figure 45 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Organizing pneumonia HP:0033670 Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities. PMID:18195376 Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. 2021-02-28T15:00:40Z human_phenotype HP:0033671 See Figure 44 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary oligemia HP:0033671 Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow. PMID:18195376 The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. 2021-02-28T15:02:26Z Positive carpal Hoffmann Tinel sign human_phenotype HP:0033672 Carpal tunnel syndrome is the most common entrapment neuropathy. The pain and paresthesias characterizing carpal tunnel syndrome are typically along the distribution of the median nerve (i.e., thumb, index finger, and middle finger). At times, these symptoms may occur in all the fingers, but should not occur in the dorsum or palm of the hand. Positive carpal Tinel sign HP:0033672 The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. PMID:21524035 PMID:32310394 The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). 2021-02-28T15:04:14Z Phalen maneuver Phalen manoeuvre human_phenotype HP:0033673 See Figure 2 of PMID:31773104. Positive Phalen test HP:0033673 The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). PMID:31773104 Phalen manoeuvre Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. 2021-02-28T15:06:40Z human_phenotype HP:0033674 Upper lobe blood diversion in patients with mitral valve disease is the archetypal example of redistribution. See Figure 59 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Pulmonary blood flow redistribution HP:0033674 Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung. PMID:18195376 A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised. 2021-03-01T15:45:15Z human_phenotype HP:0033675 There is no objective test for frailty. An operational definition recognizes frailty in an individual who has three out of the following five criteria: (i) low grip strength; (ii) low energy; (iii) slowed waking speed; (iv) low physical activity; and (v) unintentional weight loss. Frailty HP:0033675 A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised. PMID:11253156 A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating. 2021-03-02T00:54:28Z human_phenotype PTSD HP:0033676 This term is intended to be used when no additional information is available. If possible, more specific terms should be used. Posttraumatic stress symptom HP:0033676 PTSD Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. 2021-03-03T20:15:47Z ARDS human_phenotype HP:0033677 Acute respiratory distress syndrome (ARDS) is a life-threatening condition of seriously ill patients, characterized by poor oxygenation, pulmonary infiltrates, and acuity of onset. On a microscopic level, the disorder is associated with capillary endothelial injury and diffuse alveolar damage. Once ARDS develops, patients usually have varying degrees of pulmonary artery vasoconstriction and may subsequently develop pulmonary hypertension. ARDS carries a high mortality, and few effective therapeutic modalities exist to combat this condition. ARDS can be observed as a complication of many diseases including pulmonary infection or aspiration, sepsis, trauma, massive transfusion, drowning, drug overdose, fat embolism, inhalation of toxic fumes, and pancreatitis. Acute respiratory distress syndrome HP:0033677 Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. PMID:28613773 ARDS The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). 2021-03-03T20:22:24Z human_phenotype HP:0033678 A diagnosis of NSTEMI can be made when the ischemia is sufficiently severe to cause myocardial damage that results in the release of a biomarker of myocardial necrosis into the circulation (cardiac-specific troponins T or I, or muscle and brain fraction of creatine kinase [CK-MB]). In contrast, the patient is considered to have experienced UA if no such biomarker can be detected in the bloodstream hours after the initial onset of ischemic chest pain. Unstable angina exhibits 1 or more of 3 principal presentations: (1) rest angina (usually lasting >20 minutes), (2) new-onset (<2 months previously) severe angina, and (3) a crescendo pattern of occurrence (increasing in intensity, duration, frequency, or any combination of these factors). Acute coronary syndrome HP:0033678 The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI). PMID:19797781 Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. 2021-03-06T13:01:58Z human_phenotype HP:0033679 Abnormal red nucleus morphology HP:0033679 Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement. https://orcid.org/0000-0002-1735-8178 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. 2021-03-06T13:07:15Z NCIT:C4047 human_phenotype HP:0033680 Pilocytic astrocytoma HP:0033680 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities. PMID:23817572 https://orcid.org/0000-0002-1735-8178 Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. 2021-03-06T13:09:34Z NCIT:C3288 human_phenotype HP:0033681 Oligodendroglioma HP:0033681 Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. PMID:32644610 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-1735-8178 Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. 2021-03-06T13:14:42Z human_phenotype HP:0033682 Pleomorphic xanthoastrocytoma HP:0033682 Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. PMID:30051528 PMID:31535562 https://orcid.org/0000-0002-1735-8178 Increased intensity of muscle tendon reflexes in jaw. 2021-03-06T13:25:00Z Brisk jaw jerk human_phenotype HP:0033683 Jaw hyperreflexia HP:0033683 Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types 2021-03-07T22:37:42Z human_phenotype HP:0033684 Abnormal muscle fiber-type distribution HP:0033684 Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types PMID:27199166 An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. 2021-03-07T22:40:37Z Fibre type grouping human_phenotype HP:0033685 Fiber type grouping HP:0033685 An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. PMID:32715519 Fibre type grouping Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. 2021-03-07T22:44:15Z Megamitochondria human_phenotype HP:0033686 Mitochondrial hypertrophy HP:0033686 Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. PMID:32715519 A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). 2021-03-07T22:47:14Z Short term memory loss human_phenotype HP:0033687 The impairment of short term memory (STM) involves forgetting information to which the subject has been recently exposed. An individual with signs of losing STM, indeed, asks for the same questions repeatedly, forgets where he just put something, forgets recent events or something he saw or read recently. The loss of immediate memory is also termed as fixation amnesia. Practically, STM works as a kind of scratchpad for temporary recall of a limited number of data that come from the sensory register and are ready to be processed through attention and recognition. On the other side, information collected in the long term memory (LTM) storage consist of memories for the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). Short term memory impairment HP:0033687 A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds). PMID:18394484 PMID:31424720 A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). 2021-03-07T22:48:25Z Long term memory loss human_phenotype HP:0033688 Long term memory impairment HP:0033688 A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that). PMID:18394484 PMID:31424720 The impaired ability to establish new long-term memories. 2021-03-07T22:50:11Z Anterograde amnesia human_phenotype HP:0033689 Anterograde memory impairment HP:0033689 The impaired ability to establish new long-term memories. PMID:24041667 Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia. 2021-03-07T22:53:43Z Retrograde amnesia human_phenotype HP:0033690 Retrograde memory impairment HP:0033690 Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia. PMID:24041667 A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument. 2021-03-07T22:55:09Z Impaired procedural memory Procedural memory deficit human_phenotype HP:0033691 Procedural memory loss HP:0033691 Impaired ability to remember facts and events. 2021-03-07T22:56:17Z Impaired declarative memory human_phenotype HP:0033692 Declarative memory loss HP:0033692 Impaired ability to remember facts and events. PMID:33524264 Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor. 2021-03-07T22:57:41Z Phantom odor Phantom odour Phantom smell human_phenotype HP:0033693 Phantosmia has been documented in individuals with epileptic seizures, schizophrenia, depression, migraine, and otorhinolaryngology problems. Phantosmia occurs in a variety of clinical conditions, and its causes are yet unknown. Prior accounts have suggested that the phantosmic sensations originate either in the peripheral olfactory nervous system or in central brain regions, such as the amygdala and the orbital frontal cortex. Patients who experienced phantosmia following head trauma were characterized by left frontal atrophy, suggestive of a cortical origin. However, a patient study reported successfully resolving phantosmia in 7 out of 8 patients through excision of the olfactory epithelium, suggesting also peripheral olfactory system involvement. Phantosmia HP:0033693 Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor. PMID:28334095 Phantom odour Perception of touch without a tactile stimulus. 2021-03-07T23:00:31Z Tactile hallucinations human_phenotype HP:0033694 There are many different types of tactile hallucinations, and one common type is formication. Formication is the sensation of insects crawling over the skin, a term derived from the Latin word for ant, "formica. Tactile hallucination HP:0033694 Tactile hallucinations This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities. 2021-03-07T23:02:06Z human_phenotype HP:0033695 This term does not intend to include or exclude legal definitions of occupational disability. It is included in the HPO because inability to work is a frequent manifestation of disease comparable in some ways to impairment of activities of daily living. Occupational disability HP:0033695 Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. 2021-03-07T23:03:37Z Chilblain-like lesion human_phenotype HP:0033696 This condition is termed pseudo-chilblain because of the similar appearance of these lesions to chilblains. Pseudochilblains may be observed in persons with COVID-19 without documented exposure to cold or other risk factors for chilblains. Pseudo-chilblain HP:0033696 Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet. PMID:32348545 PMID:33479703 A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. 2021-03-07T23:06:54Z human_phenotype HP:0033697 Vesicular eruption HP:0033697 A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic. PMID:33008676 A type of vesicular eruption in which the vesicles are at same stages. 2021-03-07T23:07:55Z human_phenotype HP:0033698 Monomorphic vesicular eruptions should be differentiated from polymorphic vesicular eruptions such as those seem in chickenpox. Monomorphic vesicular eruption HP:0033698 A type of vesicular eruption in which the vesicles are at same stages. PMID:32348545 A type of vesicular eruption in which the vesicles are at different stages. 2021-03-07T23:09:26Z human_phenotype HP:0033699 This feature can be seen in many diseases including chickenpox. Polymorphic vesicular eruption HP:0033699 An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. 2021-03-07T23:10:27Z Papulo-vesicular eruption human_phenotype HP:0033700 Papulovesicular eruption HP:0033700 An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point. PMID:32579185 Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. 2021-03-12T12:07:04Z human_phenotype HP:0033701 See Figure 3B of PMID:17404618. Cortical sclerosis of the iliac wing HP:0033701 Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. PMID:17404618 This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). 2021-03-12T12:28:43Z human_phenotype HP:0033702 Though described in the context of asbestosis, subpleural curvilinear line is not specific for asbestosis. See Figure 68 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Subpleural curvilinear line HP:0033702 This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present). PMID:18195376 Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found 2021-03-12T12:40:15Z DNET DNT human_phenotype HP:0033703 They are commonly found in the temporal lobe and may be associated with temporal lobe epilepsy. DNETs are sometimes found in association with focal cortical dysplasia and have both neuronal and glial features. Dysembryoplastic neuroepithelial tumor HP:0033703 Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found PMID:25408925 PMID:26493957 https://orcid.org/0000-0002-1735-8178 DNET DNT An increased amount of homogentisic acid in the urine. 2021-03-12T12:47:05Z human_phenotype HP:0033704 This finding is characteristic for alkaptonuria. Elevated urinary homogentisic acid HP:0033704 An increased amount of homogentisic acid in the urine. PMID:32809406 A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations. 2021-03-12T13:20:59Z Crying episodes human_phenotype HP:0033705 Tearfulness HP:0033705 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. 2021-03-31T10:46:55Z human_phenotype HP:0033706 See Figure 56 of Hansell DM, et al., Fleischner Society: glossary of terms for thoracic imaging. Radiology. 2008;246:697-722. Progressive massive fibrosis HP:0033706 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis. PMID:18195376 Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. 2021-03-31T11:24:31Z human_phenotype HP:0033707 Perioral hyperkeratosis HP:0033707 Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. PMID:32965877 2021-03-31T11:32:16Z Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies Anti-HMGCR autoantibodies human_phenotype HP:0033708 Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity HP:0033708 Anti-HMGCR autoantibodies An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). 2021-03-31T12:40:14Z Increased phlegm human_phenotype HP:0033709 If excessive sputum production is manifested by frequent and often involuntary coughing, the HPO term Productive cough should be used. Increased sputum production HP:0033709 An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway). PMID:16983448 PMID:21121836 Increased phlegm A perception of shortness of breath that occurs independently of exertion. 2021-04-05T14:49:50Z Breathlessness at rest Dyspnea at rest Dyspnoea at rest Shortness of breath at rest human_phenotype HP:0033710 Rest dyspnea HP:0033710 Dyspnoea at rest Shortness of breath at rest Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening. 2021-04-05T18:17:15Z human_phenotype HP:0033711 Pulmonary interstitial thickening HP:0033711 Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. 2021-04-07T11:40:41Z Recurrent implantation failure human_phenotype HP:0033712 Successful embryo implantation is a process which requires both a synchronous development and interaction between hatched blastocyst and endometrium. From the clinical point of view, implantation is considered to be successful when gestational sac is diagnosed by ultrasound. Repeated implantation failure HP:0033712 Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. PMID:22976427 PMID:25473625 The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. 2021-04-07T11:44:02Z Anti-SRP antibody positivity human_phenotype HP:0033713 Anti-signal recognition particle antibody positivity HP:0033713 The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle. PMID:29582188 PMID:30639649 PMID:33093664 Anti-SRP antibody positivity The occurrence of multiple distinct meningiomas in the same individual. 2021-04-07T11:50:58Z Multifocal meningiomata Multiple meningiomata human_phenotype HP:0033714 Multiple meningiomas HP:0033714 The occurrence of multiple distinct meningiomas in the same individual. PMID:15635074 https://orcid.org/0000-0002-1735-8178 Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus. 2021-04-07T12:37:41Z Mesial temporal sclerosis human_phenotype HP:0033715 Hippocampal sclerosis is now recognized as one of the main causes of focal epilepsy and is present in approximately 10% of adults with new-onset focal epilepsy. Hippocampal sclerosis HP:0033715 Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus. PMID:12117357 PMID:24762203 PMID:26060898 https://orcid.org/0000-0002-1735-8178 Focal epileptiform EEG discharges recorded in the frontal region. 2021-04-07T12:41:46Z human_phenotype HP:0033716 EEG with frontal epileptiform discharges HP:0033716 Focal epileptiform EEG discharges recorded in the temporal region. 2021-04-07T12:56:30Z human_phenotype HP:0033717 EEG with temporal epileptiform discharges HP:0033717 Focal epileptiform EEG discharges recorded in the temporal region. https://orcid.org/0000-0002-1735-8178 Focal epileptiform EEG discharges recorded in the central region. 2021-04-07T12:58:21Z human_phenotype HP:0033718 EEG with central epileptiform discharges HP:0033718 Focal epileptiform EEG discharges recorded in the central region. https://orcid.org/0000-0002-1735-8178 Focal epileptiform EEG discharges recorded in the parietal region. 2021-04-07T12:59:53Z human_phenotype HP:0033719 EEG with parietal epileptiform discharges HP:0033719 Focal epileptiform EEG discharges recorded in the parietal region. https://orcid.org/0000-0002-1735-8178 Focal epileptiform EEG discharges recorded in the occipital region. 2021-04-07T13:02:17Z human_phenotype HP:0033720 EEG with occipital epileptiform discharges HP:0033720 Focal epileptiform EEG discharges recorded in the occipital region. https://orcid.org/0000-0002-1735-8178 Focal epileptiform EEG discharges recorded in the centrotemporal region. 2021-04-07T13:05:20Z human_phenotype HP:0033721 EEG with centrotemporal epileptiform discharges HP:0033721 Focal epileptiform EEG discharges recorded in the centrotemporal region. https://orcid.org/0000-0002-1735-8178 An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. 2021-04-07T13:09:47Z Autonomic aura Autonomic auras Vegetative aura human_phenotype HP:0033722 As an aura, its manifestation is purely subjective, conversely the initial manifestation of a focal autonomic seizure (HP:0011154) may be objective (a physical sign) or subjective (a symptom). Consider the following additional more specific annotations: types of 'focal aware autonomic seizure' (HP:0032740) if the aura occurs as the sole manifestation of the seizure, types of 'focal impaired awareness autonomic seizure' (HP:0032755) if the seizure progresses with impairment of awareness, and 'bilateral tonic-clonic seizure with focal onset' (HP:0007334) if the seizure propagates into a bilateral tonic-clonic seizure. Autonomic epileptic aura HP:0033722 An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region. PMID:20926350 https://orcid.org/0000-0002-1735-8178 Autonomic auras Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins. 2021-04-07T16:31:35Z Abnormal dural venous sinus morphology Abnormality of the cerebral venous sinuses human_phenotype HP:0033723 Abnormal cerebral venous sinus morphology HP:0033723 An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. 2021-04-07T16:35:17Z human_phenotype HP:0033724 Cerebral venous sinus thrombosis HP:0033724 An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses. PMID:29923367 https://orcid.org/0000-0002-1735-8178 An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). 2021-04-07T16:39:13Z Small corpus callosum Thinning of the corpus callosum human_phenotype HP:0033725 Thin corpus callosum HP:0033725 An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). https://orcid.org/0000-0002-1735-8178 Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. 2021-04-16T13:23:12Z human_phenotype HP:0033726 Lupus nephritis HP:0033726 Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. PMID:31974366 https://orcid.org/0000-0002-2234-4248 A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. 2021-04-16T13:34:10Z Class IV lupus nephritis human_phenotype HP:0033727 Diffuse lupus nephritis HP:0033727 A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. PMID:31974366 https://orcid.org/0000-0002-2234-4248 A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. 2021-04-16T13:36:24Z Class II lupus nephritis human_phenotype HP:0033728 Mesangial proliferative lupus nephritis HP:0033728 A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy. PMID:31974366 https://orcid.org/0000-0002-2234-4248 A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. 2021-04-16T13:41:02Z Class I lupus nephritis human_phenotype HP:0033729 Minimal mesangial lupus nephritis HP:0033729 A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence. PMID:31974366 https://orcid.org/0000-0002-2234-4248 A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis 2021-04-16T13:42:22Z Class V lupus nephritis human_phenotype HP:0033730 Membranous lupus nephritis HP:0033730 A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis PMID:31974366 A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations 2021-04-16T13:45:49Z Class III lupus nephritis human_phenotype HP:0033731 Focal lupus nephritis HP:0033731 A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations PMID:31974366 https://orcid.org/0000-0002-2234-4248 A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. 2021-04-16T13:47:29Z Class VI lupus nephritis human_phenotype HP:0033732 Advanced sclerotic lupus nephritis HP:0033732 A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity. PMID:31974366 https://orcid.org/0000-0002-2234-4248 Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). 2021-04-16T13:55:32Z human_phenotype HP:0033733 Low-grade vesicoureteral reflux HP:0033733 Vesicoureteral reflux without dilation of the renal calyces (Grade I-II). PMID:18322164 https://orcid.org/0000-0002-2234-4248 Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). 2021-04-16T13:56:53Z human_phenotype HP:0033734 High-grade vesicoureteral reflux HP:0033734 Vesicoureteral reflux with dilation of the renal calyces (Grade III - V). PMID:18322164 https://orcid.org/0000-0002-2234-4248 Vesicoureteral reflux into the ureter only. 2021-04-16T13:58:30Z Grade I VUR VUR I human_phenotype HP:0033735 Grade I vesicoureteral reflux HP:0033735 Vesicoureteral reflux into the ureter only. PMID:18322164 https://orcid.org/0000-0002-2234-4248 Grade I VUR VUR I Vesicoureteral reflux into a non-dilated pyelocalyceal system. 2021-04-16T14:00:01Z Grade II VUR VUR II human_phenotype HP:0033736 Grade II vesicoureteral reflux HP:0033736 Vesicoureteral reflux into a non-dilated pyelocalyceal system. PMID:18322164 PMID:3975102 https://orcid.org/0000-0002-2234-4248 Grade II VUR VUR II Vesicoureteral reflux with dilatation of the collecting system. 2021-04-16T14:04:17Z Grade III VUR VUR III human_phenotype HP:0033737 Grade III vesicoureteral reflux HP:0033737 Vesicoureteral reflux with dilatation of the collecting system. PMID:18322164 PMID:3975102 https://orcid.org/0000-0002-2234-4248 Grade III VUR VUR III Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. 2021-04-16T14:07:41Z human_phenotype HP:0033738 This term can be used together with a term to describe the grade of VUR. Primary vesicoureteral reflux HP:0033738 Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction. PMID:18322164 PMID:19668250 https://orcid.org/0000-0002-2234-4248 Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. 2021-04-16T14:09:07Z human_phenotype HP:0033739 This term can be used together with a term to describe the grade of VUR. Secondary vesicoureteral reflux HP:0033739 Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. PMID:18322164 PMID:19668250 https://orcid.org/0000-0002-2234-4248 Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter. 2021-04-16T14:12:45Z Grade V VUR VUR V human_phenotype HP:0033740 Grade V vesicoureteral reflux HP:0033740 Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter. PMID:18322164 PMID:3975102 https://orcid.org/0000-0002-2234-4248 Grade V VUR VUR V Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter. 2021-04-16T14:15:59Z Grade IV VUR VUR IV human_phenotype HP:0033741 Grade IV vesicoureteral reflux HP:0033741 Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter. PMID:18322164 PMID:3975102 https://orcid.org/0000-0002-2234-4248 Grade IV VUR VUR IV Severe vesicoureteral reflux reaching the kidney parenchyma. 2021-04-16T14:19:01Z human_phenotype HP:0033742 Intrarenal reflux HP:0033742 Severe vesicoureteral reflux reaching the kidney parenchyma. PMID:18322164 PMID:33738272 https://orcid.org/0000-0002-2234-4248 A congenital defect characterized by lack of development of the macula. 2021-04-16T14:35:12Z human_phenotype HP:0033743 Macular agenesis HP:0033743 A type of cerebellar dysplasia that affects the entire cerebellum. 2021-04-16T21:54:51Z human_phenotype HP:0033744 Global cerebellar dysplasia HP:0033744 A type of cerebellar dysplasia that affects the entire cerebellum. PMID:26331051 A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis. 2021-04-16T21:56:06Z human_phenotype HP:0033745 Dysplasia of the superior cerebellar vermis is generally seen in Joubert syndrome. Dysplasia of the superior cerebellar vermis HP:0033745 A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis. PMID:26331051 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades. 2021-04-19T22:53:57Z Pain between shoulder blades human_phenotype HP:0033746 Intrascapular pain HP:0033746 Pain between shoulder blades A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. 2021-04-21T10:58:44Z human_phenotype HP:0033747 Abnormal exteroceptive sensation HP:0033747 Decreased ability to perceive touch. 2021-04-21T11:10:28Z Hypoaesthesia Numbness human_phenotype HP:0033748 In the literature, hypoesthesia is not used specifically to denote loss of tactile sensation, but can be used to refer to losses of all types of sensation. Here, we use the term to refer to exteroceptive sensation. Hypoesthesia HP:0033748 Hypoaesthesia Numbness A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. 2021-04-21T15:47:00Z human_phenotype HP:0033749 Functional residual capacity (FRC), is about 3L in a normal adult. FRC is the total amount of air in a person's lungs at the lowest point of their tidal volume (TV; the volume of air a person normally inspires and expires). The FRC is a lung capacity, consisting of the sum of two or more volumes. It also cannot be measured directly using spirometry and has to be calculated. This because FRC is a combination of the expiratory reserve volume (ERV) and the residual volume (RV). The residual volume is the amount of air remaining the lung after expelling as much air from the lungs as possible. The residual volume can never be exhaled; thus, it cannot be measured using spirometry and is the air causing the alveoli to remain open. The ERV is the reserve amount of air that can be exhaled forcefully, after passive exhalation. Therefore, the FRC can be represented as the equation: FRC=RV+ERV. Abnormal functional residual capacity HP:0033749 A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation. PMID:29763183 An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. 2021-04-21T15:49:07Z human_phenotype HP:0033750 Reduced functional residual capacity HP:0033750 An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation. PMID:29763183 An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. 2021-04-21T15:49:55Z human_phenotype HP:0033751 Elevated functional residual capacity HP:0033751 An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation. PMID:29763183 Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs). 2021-04-21T16:09:44Z human_phenotype HP:0033752 Abnormal residual volume HP:0033752 Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation. 2021-04-21T16:11:22Z human_phenotype HP:0033753 Reduced residual volume HP:0033753 Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). 2021-04-22T19:06:04Z human_phenotype HP:0033754 Abnormal left ventricular end-diastolic volume HP:0033754 Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole). PMID:19159437 PMID:29446315 Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole). 2021-04-22T19:22:54Z human_phenotype HP:0033755 Increased left ventricular end-diastolic volume HP:0033755 Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole). 2021-04-22T19:23:12Z human_phenotype HP:0033756 Decreased left ventricular end-diastolic volume HP:0033756 Fat infiltration in the pancreas. 2021-04-22T22:17:33Z Fatty pancreas Non-alcoholic fatty pancreatic disease Pancreatic fatty infiltration Pancreatic fatty replacement Pancreatic lipomatosis Pancreatic lipomatous pseudohypertrophy human_phenotype HP:0033757 Pancreatic steatosis is the most common benign pathologic condition of the pancreas in adult and commonly related to obesity and associated insulin resistance. Pancreatic steatosis HP:0033757 Fat infiltration in the pancreas. PMID:32490903 A circumscribed area of pus or necrotic debris in the labia. 2021-04-28T13:04:02Z Abscess of the labia human_phenotype HP:0033758 Labial abscess HP:0033758 A circumscribed area of pus or necrotic debris in the labia. PMID:7598776 Decreased renal tubular reabsorption of magnesium. 2021-04-28T13:05:35Z human_phenotype HP:0033759 96% of filtered magnesium is reabsorbed in the tubule. 10%-30% of the filtered magnesium is absorbed in the proximal tubule, the thick ascending limb absorbs 40%-70% of filtered magnesium. Impaired renal tubular reabsorption of magnesium HP:0033759 Decreased renal tubular reabsorption of magnesium. PMID:25287933 https://orcid.org/0000-0002-2234-4248 Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill and ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. 2021-04-29T21:47:37Z human_phenotype HP:0033760 Decreased maximal oxygen uptake HP:0033760 Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill and ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload. PMID:29506981 Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. 2021-04-30T11:02:02Z human_phenotype HP:0033761 Xanthogranulomatous pyelonephritis is an uncommon chronic destructive granulomatous process of renal parenchyma in association with long-term urinary tract obstruction and infection. Xanthogranulomatous pyelonephritis HP:0033761 Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells. PMID:21526966 https://orcid.org/0000-0002-2234-4248 Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain. 2021-04-30T11:06:49Z human_phenotype HP:0033762 Middle cerebral artery stroke HP:0033762 Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain. PMID:32310592 Cessation of life at the age of 16 years or later. 2021-04-30T11:20:03Z human_phenotype HP:0033763 Death in adulthood HP:0033763 Death between the age of 40 and 60 years. 2021-04-30T11:20:49Z human_phenotype HP:0033764 Death in middle age HP:0033764 Death between the age of 40 and 60 years. https://orcid.org/0000-0002-6410-0882 Death at an age of at least 60 years. 2021-04-30T11:21:09Z human_phenotype HP:0033765 Death in late adulthood HP:0033765 Death at an age of at least 60 years. https://orcid.org/0000-0002-6410-0882 Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). 2021-04-30T11:21:23Z human_phenotype HP:0033766 Polymelia HP:0033766 Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis). PMID:23814690 Abnormally high or low single motor unit action potential reading (-Pk Amps). 2021-04-30T11:50:43Z human_phenotype HP:0033767 Abnormal single motor unit action potential HP:0033767 Abnormally high or low single motor unit action potential reading (-Pk Amps). PMID:15961866 Overgrowth of candida albicans in the penis. 2021-04-30T11:53:20Z Penile candidiasis human_phenotype HP:0033768 Penile thrush HP:0033768 Overgrowth of candida albicans in the penis. PMID:27659805 Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. 2021-04-30T13:21:07Z Fundic gland polyps Gastric polyposis Proximal polyposis of the stomach human_phenotype HP:0033769 Fundic gland polyposis HP:0033769 Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. PMID:20567540 An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. 2021-04-30T14:02:59Z human_phenotype HP:0033770 Ninety percent of all tumors of the stomach are malignant, and gastric adenocarcinoma comprises 95% of the total number of malignancies. Gastric adenocarcinoma HP:0033770 An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. NCIT:C4004 PMID:15621988 PMID:28569272 Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. 2021-05-01T15:26:18Z human_phenotype HP:0033771 Pleuritic chest pain HP:0033771 Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling. PMID:28925655 Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. 2021-05-01T15:42:55Z human_phenotype HP:0033772 Abnormal RV/TLC ratio HP:0033772 Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. PMID:12934788 An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. 2021-05-01T15:44:00Z human_phenotype HP:0033773 Decreased RV/TLC ratio HP:0033773 An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography. PMID:12934788 Decreased renal tubular reabsorption of uric acid. 2021-05-04T14:21:45Z human_phenotype HP:0033774 Uric acid excretion rate is the product of the filtered load (which can be approximated as plasma ultrafilterable urate multiplied by the glomerular filtration rate) and fractional excretion of urate (FEUA), which represents the percentage of filtered urate that is excreted in the final urine. Impaired renal tubular reabsorption of uric acid HP:0033774 Decreased renal tubular reabsorption of uric acid. PMID:27105641 PMID:31474092 https://orcid.org/0000-0002-2234-4248 An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. 2021-05-04T14:47:16Z human_phenotype HP:0033775 Pulmonary imaging sign HP:0033775 An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images. PMID:31802270 Small nodules of enamel on the root of a tooth. 2021-05-07T09:49:37Z human_phenotype HP:0033776 Enamel pearls can typically not be seen on X-rays but need direct visualization. The pearls can be present on the surface of the dentine or cement of deciduous teeth, with a frequency of 33% or on the roots of maxillary molars, with a frequency of 1.2%. Enamel pearls HP:0033776 Small nodules of enamel on the root of a tooth. PMID:31468724 Additional cusps of a dental crown. 2021-05-07T09:52:32Z Additional cusp Extra cusp human_phenotype HP:0033777 The crown is the part of the tooth that is visible in the oral cavity. Supernumerary cusps can occur on any tooth with cusps. Canines possess a single cusp, premolars two (bicuspid), and molars three to five cusps. Supernumerary cusps are frequently seen in patients with other dental anomalies. Prevalence varies by geographical region. A tubercle on the lingual surface of the maxillary first permanent molar is sometimes referred to as a Carabelli cusp. A supernumerary cusp on the lingual or palatal side of anterior teeth is called Talon cusp, and an additional cusp on the occlusal surface of a premolar is called Leung cusp. Supernumerary cusp HP:0033777 Additional cusps of a dental crown. PMID:31468724 An additional cusp located in the middle of the occlusal surface. 2021-05-07T09:59:19Z human_phenotype HP:0033778 A Leung cusp is present on premolars only. In radiographs, a pulp extension may be seen inside the cusp. Leung cusp HP:0033778 An additional cusp located in the middle of the occlusal surface. PMID:31468724 A tooth crown with convex mesial and distal surfaces. 2021-05-07T10:08:15Z human_phenotype HP:0033779 A barrel shape of a tooth occurs in incisors and canines only. The incisal edge is not pointed. Barrel-shaped teeth are frequently observed in association with hypodontia and oligodontia. Barrel-shaped tooth HP:0033779 A tooth crown with convex mesial and distal surfaces. PMID:31468724 A tooth crown with a marked cervical area constriction. 2021-05-07T10:09:42Z human_phenotype HP:0033780 Bulbous tooth HP:0033780 A tooth crown with a marked cervical area constriction. PMID:31468724 A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. 2021-05-07T10:14:22Z human_phenotype HP:0033781 Tapered tooth HP:0033781 A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors. PMID:31468724 An incisor with a half-moon shape incisal edge. 2021-05-07T10:21:03Z Crescent-shape tooth Hutchinson incisor Semicircular tooth Tooth, semilunar human_phenotype HP:0033782 If a notch occupies most of incisal edge, it has been indicated as semilunar teeth or crescent-shaped. Semilunar tooth HP:0033782 Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. 2021-05-07T10:32:47Z human_phenotype HP:0033783 MIM affects one or more roots of deciduous second molars and permanent first molars. Permanent maxillary central incisors may also be affected. The diagnosis requires clinical and radiographic examinations. Molar incisor malformation HP:0033783 Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars. PMID:31468724 This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. 2021-05-07T10:38:57Z human_phenotype HP:0033784 This term designates a genetic condition, and an Element of Morphology rending its utilization sometimes confusing. The condition is characterized by multiple dental anomalies that affect both deciduous and permanent dentitions. It can exist in isolation or be associated with other signs and symptoms of various syndromes. Dentin dysplasia HP:0033784 This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. PMID:31468724 Complete or almost complete absence of enamel. 2021-05-07T10:59:43Z human_phenotype HP:0033785 Enamel agenesis can indicate a total absence of enamel or the presence of a very thin enamel layer that is difficult to visualize during clinical examination. It may need microscopic studies to determine whether any enamel is still present. It can be present isolated and as part of rare syndromic entities. Enamel agenesis HP:0033785 Complete or almost complete absence of enamel. PMID:31468724 Enamel with a white or brown discoloration without hypoplasia. 2021-05-07T11:02:43Z Enamel opacity human_phenotype HP:0033786 Enamel maturation is a process through which enamel matrix proteins are removed to allow full growth of the enamel hydroxyapatite crystals. Hypomature enamel can be caused by genetic or environmental factors. It may occur in both deciduous and permanent dentitions, although more often in the permanent dentition. Hypomature enamel may concern a single tooth, several teeth, or the complete dentition and may affect part or the complete surface of the tooth. The enamel is usually hard, colored but not translucid. It is a qualitative defect of enamel. Hypomature enamel HP:0033786 Enamel with a white or brown discoloration without hypoplasia. PMID:31468724 The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. 2021-05-07T11:07:41Z Cementum aplasia human_phenotype HP:0033787 Cementum hypoplasia HP:0033787 The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth. PMID:31468724 Excess of cementum on the tooth root surface. 2021-05-07T11:08:51Z Cementation hyperplasia Cementum hypertrophy Cementum overdeveloped Drumstick-shaped root Hypercementosis human_phenotype HP:0033788 The excessive buildup of normal cementum (calcified tissue) on the roots of one or more teeth is an idiopathic, non-neoplastic condition. Cementum overgrowth may be either hyperplasia or hypertrophy of the cement; these terms can only be used if histological evidence of hypertrophy or hyperplasia have been established. Cementum overgrowth HP:0033788 Excess of cementum on the tooth root surface. PMID:31468724 Applies to a sign or symptom that is provoked or brought about by eating cheese. 2021-05-07T11:11:07Z human_phenotype HP:0033789 Cheese contains tyramine, which is thought to be responsible for tachycardia and hypertension that can be tirggered by eating cheese in persons with Trimethylaminuria. Triggered by cheese ingestion HP:0033789 Applies to a sign or symptom that is provoked or brought about by eating cheese. PMID:9398858 A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. 2021-05-07T11:14:26Z Flame-shaped pulp human_phenotype HP:0033790 Thistle tube shaped pulp HP:0033790 A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations. PMID:31468724 Fusion of a tooth with alveolar bone. 2021-05-07T11:24:36Z human_phenotype HP:0033791 Ankylosis is uncommon in the deciduous dentition and very rare in the permanent dentition. It may be observed after trauma. Ankylosis may occur at the crown or root level. Tooth ankylosis HP:0033791 Fusion of a tooth with alveolar bone. PMID:31468724 Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. 2021-05-07T11:30:03Z human_phenotype HP:0033792 Cross bite may occur unilaterally, bilaterally, or frontally. A total cross bite with buccal displacement of the maxillary posterior teeth, with or without contact between the lingual surface of the maxillary lingual cusp and the buccal surface of the buccal cusp of its mandibular antagonist, has been called scissor bite. If only a single tooth is affected, the term single cross bite can be used. Cross bite HP:0033792 Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth. PMID:31468724 Applies to a sign or symptom that is provoked or brought about by eating a certain food. 2021-05-07T17:28:49Z human_phenotype HP:0033793 Triggered by food ingestion HP:0033793 Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement. 2021-05-08T12:21:48Z Acral enlargement Acral hypertrophy Acromegalic growth human_phenotype Acromegaly HP:0033794 This term should be used to encode the overgrowth of hands and feet that can be seen in acromegaly, a rare disorder caused by excessive growth hormone production, most commonly from an adenoma of the anterior pituitary gland. The resulting production of insulin-like growth factor 1 causes the characteristic overgrowth of certain tissues resulting in coarsening of facial features, enlarging hands and feet, as well as effects on multiple systems throughout the body. The Figure in PMID:30853479 illustrates large hands with stubby fingers characteristic of acromegaly. Acral overgrowth HP:0033794 Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement. PMID:27477558 PMID:27812777 PMID:30853479 2021-05-09T11:28:27Z human_phenotype HP:0033795 Growth hormone (GH) is essential for normal growth. However, cases of normal growth without GH may occur. The mechanism of growth without GH remains still unclear. However, regarding normal growth without GH arising after brain surgery, hypothalamic damage caused by the brain surgery is thought to induce obesity, and the resulting hyperinsulinemia and/or hyperprolactinemia are assumed to be important mechanisms of normal growth without GH in postsurgery patients. It is assumed that elevated insulin and/or prolactin concentration normalize IGF-1 levels even in GHD patients, restricts the increase in serum levels of IGFBP-3, and changes the distribution of circulating IGF-1. Thus, normal growth without GH continues because of the effects of IFG-I, which are independent of GH. Growth without growth hormone HP:0033795 Growth hormone (GH) is essential for normal growth. However, cases of normal growth without GH may occur. The mechanism of growth without GH remains still unclear. However, regarding normal growth without GH arising after brain surgery, hypothalamic damage caused by the brain surgery is thought to induce obesity, and the resulting hyperinsulinemia and/or hyperprolactinemia are assumed to be important mechanisms of normal growth without GH in postsurgery patients. It is assumed that elevated insulin and/or prolactin concentration normalize IGF-1 levels even in GHD patients, restricts the increase in serum levels of IGFBP-3, and changes the distribution of circulating IGF-1. Thus, normal growth without GH continues because of the effects of IFG-I, which are independent of GH. PMID:28443260 A functional abnormality of a white blood cell. 2021-05-08T13:50:44Z human_phenotype HP:0033796 Abnormal leukocyte physiology HP:0033796 Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization. 2021-05-08T13:51:57Z Abnormal leukocyte migration Defects of leukocyte migration human_phenotype HP:0033797 Leukocyte migration defect HP:0033797 HP:0025825 2021-05-08T13:55:54Z human_phenotype HP:0033798 obsolete Impaired leukocyte adhesion true HP:0033798 Any deviation from the normal concentration of a sex hormone in the blood circulation 2021-05-09T11:33:30Z Abnormal circulating gonadal steroid concentration Abnormal circulating gonadocorticoid concentration Abnormal circulating sex steroid concentration human_phenotype HP:0033799 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. Abnormal circulating sex hormone concentration HP:0033799 Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur. 2021-05-08T14:53:30Z human_phenotype HP:0033800 Blistering by anatomical location HP:0033800 Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. 2021-05-08T14:55:16Z human_phenotype HP:0033801 Blistering by histological location HP:0033801 Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa. PMID:20055907 A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells. 2021-05-08T14:57:59Z human_phenotype HP:0033802 Intra-epidermal blistering HP:0033802 A type of blistering in which the cleavage plane of blisters is located below the lamina densa. 2021-05-08T15:00:31Z Blistering with sub-lamina densa plane of cleavage human_phenotype HP:0033803 Cleavage in the sublamina densa, in the upper portion of the dermis (papillary dermis), occurs in dystrophic epidermolysis bullosa. Sub-lamina densa cleavage HP:0033803 A type of blistering in which the lesions are located beneath the epidermis. 2021-05-08T15:09:28Z human_phenotype HP:0033804 Subepidermal blistering HP:0033804 A granuloma which is not associated with necrotic changes. 2021-05-08T15:11:03Z human_phenotype HP:0033805 Non-necrotizing granuloma HP:0033805 A granuloma which is not associated with necrotic changes. PMID:32476832 An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum. 2021-05-08T15:13:03Z human_phenotype HP:0033806 Abnormal epidermis stratum granulosum morphology HP:0033806 Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. 2021-05-08T15:15:46Z human_phenotype HP:0033807 Keratohyalin granules typically contain a mixture of keratin filament bundles, as well as the filament-associated proteins loricrin, filaggrin, and trichohyalin. These granules are insoluble in water and located within the cytoplasm where they promote dehydration of the cell. Their chief function seems to be cross-linking of keratin filaments which creates the tight barrier that is the epidermis, providing the body with an impermeable layer that protects from invasion by foreign particles. This process of cornification of the epidermis effected by KHG is known as keratinization. Absent keratohyalin granules HP:0033807 Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. PMID:30725734 A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. 2021-05-08T15:33:22Z human_phenotype HP:0033808 Spermatoceles are frequently seen on scrotal ultrasound as an incidental finding and may be present in up to 30% of patients. Spermatocele HP:0033808 A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. PMID:21592287 Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids. 2021-05-09T11:41:20Z human_phenotype HP:0033809 Increased concentration of 17 hydroxypregnolone level can be observed in conditions including cytochrome P450 oxidoreductase deficiency. Increased circulating 17 hydroxypregnenolone concentration HP:0033809 A reduced concentration of dihydrotestosterone in the blood circulation. 2021-05-09T11:44:13Z human_phenotype HP:0033810 Decreased circulating dihydrotestosterone concentration HP:0033810 A reduced concentration of dihydrotestosterone in the blood circulation. PMID:20301592 PMID:31888681 Any deviation from the normal concentration of androstenedione in the blood circulation. 2021-05-09T11:53:48Z human_phenotype HP:0033811 Abnormal circulating androstenedione concentration HP:0033811 Reduced concentration of androstenedione in the blood circulation. 2021-05-09T11:56:14Z human_phenotype HP:0033812 Decreased circulating androstenedione concentration HP:0033812 Situated or occurring around a lobe of an organ. 2021-05-09T12:03:28Z human_phenotype HP:0033813 Perilobular HP:0033813 Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. 2021-05-09T12:08:03Z human_phenotype HP:0033814 Paraseptal HP:0033814 Centered in bronchi or bronchioles. 2021-05-09T12:11:30Z human_phenotype HP:0033815 Bronchocentric HP:0033815 Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs. 2021-05-09T12:12:13Z human_phenotype HP:0033816 Centrilobular HP:0033816 Characterized by numerous small lesions said to resemble millet seed. 2021-05-09T12:13:42Z human_phenotype HP:0033817 Miliary HP:0033817 Applies to an abnormality whose distribution and appearance resembles a net or network-like structure. 2021-05-09T12:18:27Z human_phenotype HP:0033818 Reticular HP:0033818 Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel). 2021-05-09T12:19:16Z human_phenotype HP:0033819 Perilymphatic HP:0033819 Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung. 2021-05-09T12:20:29Z human_phenotype HP:0033820 Apical HP:0033820 A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). 2021-05-09T12:22:54Z human_phenotype HP:0033821 Pulmonary mass HP:0033821 A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features. 2021-05-09T12:24:00Z human_phenotype HP:0033822 Mass on thoracic imaging HP:0033822 A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). 2021-05-09T12:25:09Z human_phenotype HP:0033823 Mediastinal mass HP:0033823 A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). 2021-05-09T12:26:15Z human_phenotype HP:0033824 Pleural mass HP:0033824 A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). 2021-05-09T12:26:41Z human_phenotype HP:0033825 Superior mediastinal mass HP:0033825 A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4). 2021-05-09T12:28:07Z human_phenotype HP:0033826 Inferior mediastinal mass HP:0033826 A type of inferior mediastinal mass that is located in front of the pericardium. 2021-05-09T12:29:02Z human_phenotype HP:0033827 Anterior mediastinal mass HP:0033827 A type of inferior mediastinal mass that is located withinthe pericardium. 2021-05-09T12:29:44Z human_phenotype HP:0033828 Middle mediastinal mass HP:0033828 A type of inferior mediastinal mass that is located behind the pericardium. 2021-05-09T12:30:13Z human_phenotype HP:0033829 Posterior mediastinal mass HP:0033829 A type of pulmonary mass with high attenuation. 2021-05-09T12:32:24Z human_phenotype HP:0033830 Hyperdense pulmonary mass HP:0033830 Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. 2021-05-09T12:33:00Z human_phenotype HP:0033831 Cavitating pulmonary mass HP:0033831 Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm. https://orcid.org/0000-0002-4095-8489 A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. 2021-05-09T12:35:14Z human_phenotype Livedoid dermatitis HP:0033832 Livedo HP:0033832 A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels. PMID:17143977 The concentration of sCD25 (= soluble CD25, = soluble interleukin-2 receptor alpha-chain, = soluble IL-2 receptor alpha) in the blood circulation is above the upper limit of normal. 2021-05-16T15:23:19Z Elevated circulating interleukin-2 receptor alpha-chain human_phenotype HP:0033833 Interleukin-2 receptor alpha-chain (CD25) is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response. Elevated circulating sCD25 concentration HP:0033833 A feeling of general discomfort, weakness, or lack of health. 2021-05-16T15:40:30Z human_phenotype HP:0033834 Malaise HP:0033834 Anomalous structure of a blood vessel in the kidney. 2021-05-16T17:27:46Z human_phenotype HP:0033835 Abnormal renal vascular morphology HP:0033835 An anomalous structure of an artery located in the kidney. 2021-05-16T17:29:18Z Abnormal kidney arterial blood vessel morphology human_phenotype HP:0033836 Abnormal intrarenal artery morphology HP:0033836 Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla. 2021-05-16T17:30:06Z Abnormalities of arcuate arteries human_phenotype HP:0033837 Abnormal arcuate artery morphology HP:0033837 A pervasive state of negatively valenced emotional unease and dissatisfaction along with an inner discomfort that is disproportionate to external circumstances and may include heightened emotional reactivity. It is associated with a mixture of overlapping negative emotions that are difficult to disentangle. 2021-05-21T17:48:02Z Emotional discomfort Emotional discontent Emotional discord Emotionally unsettled Feeling off inside Ill at ease human_phenotype Emotional unrest Psychological unease HP:0033838 Dysphoria has a mixed and unstable nonspecific quality and is a complex negative emotional state with multiple vague symptoms. Recent literature uses include gender dysphoria, but prior use was interchangeable with depression. The central features are dissatisfaction and resentment with a pronounced negative emotional experience. Dysphoria HP:0033838 A pervasive state of negatively valenced emotional unease and dissatisfaction along with an inner discomfort that is disproportionate to external circumstances and may include heightened emotional reactivity. It is associated with a mixture of overlapping negative emotions that are difficult to disentangle. PMID:10867572 PMID:30439852 Emotional discomfort Emotionally unsettled Feeling off inside Ill at ease An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes. 2021-05-30T15:33:30Z Pain in testicles human_phenotype HP:0033839 Testicular pain HP:0033839 Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy. 2021-05-30T15:51:38Z human_phenotype HP:0033840 Postmenopausal bleeding HP:0033840 Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy. PMID:17339971 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye. 2021-05-30T16:32:42Z Itchy eyes Ocular itch human_phenotype HP:0033841 Ocular pruritus HP:0033841 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye. PMID:29862322 PMID:29988128 Itchy eyes The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. 2021-05-30T20:36:13Z Feeling full quickly when eating Not able to finish a normal-sized meal human_phenotype HP:0033842 Early satiety HP:0033842 The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food. PMID:21369493 PMID:27781342 Feeling full quickly when eating Not able to finish a normal-sized meal Feeling excessively full after meals. 2021-05-30T20:40:29Z human_phenotype HP:0033843 Postprandial fullness HP:0033843 Feeling excessively full after meals. PMID:27781342 An inner sense (from the self) that thoughts are moving abnormally fast and in a manner that the individual typically feels that the rate is beyond their control, i.e. they feel unable to slow the rate of thoughts. Racing thoughts by themselves have a linear progression, following a line of thinking or logic, which distinguishes racing thoughts from flight of ideas. Racing thoughts may however, co-occur with or be independent from flight of ideas, they may be associated with pressured speech or be an internal perception of the rate of thinking. The core element being the rate of the thoughts themselves. 2021-05-30T21:10:50Z Racing thoughts Tachyphrenia human_phenotype HP:0033844 Racing thoughts HP:0033844 Racing thoughts A feeling that something life-threatening or tragic is about to occur. 2021-06-01T16:27:25Z Sense of doom human_phenotype HP:0033845 Sense of impending doom HP:0033845 Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. 2021-06-01T16:29:58Z human_phenotype HP:0033846 Spinal hypomyelination HP:0033846 Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis. PMID:23643384 A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment. 2021-06-01T16:48:29Z Phantom taste human_phenotype HP:0033847 In contrast to parageusia, phantageusia is not triggered by an environmental stimulus. Phantageusia HP:0033847 Phantom taste A type of aphasia that is characterized by impaired language comprehension. 2021-06-01T16:53:29Z Fluent aphasia Wernicke aphasia human_phenotype HP:0033848 Receptive aphasia HP:0033848 A type of aphasia that is characterized by impaired language comprehension. PMID:28722980 Fluent aphasia The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. 2021-06-01T18:43:06Z human_phenotype HP:0033849 Bilingual aphasia HP:0033849 The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages. PMID:31024369 Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. 2021-06-02T17:59:33Z Cold skin temperature Cool skin Cool skin temperature Coolness to palpation human_phenotype HP:0033850 Coldness is a nonspecific finding, but can be a sing of peripheral vascular disease with a reduction in blood perfusion resulting in relative coldness of the affected body part (usually a hand or foot or an extremity). Coldness HP:0033850 Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness. PMID:16770929 PMID:32491414 Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. 2021-06-02T18:07:36Z human_phenotype HP:0033851 Oculomotor synkinesis HP:0033851 Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. PMID:18004962 Abnormal structure of a vein located inside the kidney parenchyma. 2021-06-02T18:53:31Z human_phenotype HP:0033852 Abnormal intrarenal vein morphology HP:0033852 Abnormal structure of a vein located inside the kidney parenchyma. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). 2021-06-02T18:55:40Z human_phenotype HP:0033853 Abnormal arcuate vein morphology HP:0033853 Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla). https://orcid.org/0000-0003-2356-950X Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). 2021-06-02T18:58:25Z human_phenotype HP:0033854 Abnormal interlobular vein morphology HP:0033854 Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct). https://orcid.org/0000-0003-2356-950X Any structural anomaly located in the the inside space of the interlobular veins of the kidney. 2021-06-02T19:00:07Z Abnormal morphology of the interlobular vein lumen human_phenotype HP:0033855 Abnormal interlobular vein lumen morphology HP:0033855 Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-02T19:03:13Z human_phenotype HP:0033856 Cholesterol emboli within interlobular vein lumen HP:0033856 Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. PMID:27012950 https://orcid.org/0000-0003-2356-950X Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. 2021-06-02T19:06:12Z human_phenotype HP:0033857 Intraluminal thrombi within interlobular veins HP:0033857 Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney. https://orcid.org/0000-0003-2356-950X Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. 2021-06-02T19:07:57Z human_phenotype HP:0033858 Organized thrombi within interlobular vein lumen HP:0033858 Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney. https://orcid.org/0000-0003-2356-950X Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, 2021-06-23T17:32:26Z human_phenotype HP:0033859 Abnormal peritubular capillary morphology HP:0033859 Anomalous structure of the peritubular capillaries located in the cortex of the kidney. 2021-06-23T17:35:32Z human_phenotype HP:0033860 Abnormal cortical peritubular capillary morphology HP:0033860 Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. 2021-06-23T17:37:14Z Multilamellation of basement membranes within cortical peritubular capillaries human_phenotype HP:0033861 Multilamellation of cortical peritubular capillary basement membranes HP:0033861 Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers. PMID:21720964 https://orcid.org/0000-0003-2356-950X Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. 2021-06-23T17:41:03Z human_phenotype HP:0033862 Cortical peritubular capillaritis HP:0033862 Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. PMID:25738252 https://orcid.org/0000-0003-2356-950X Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. 2021-06-23T17:44:05Z human_phenotype HP:0033863 Abnormal cortical peritubular capillary lumen morphology HP:0033863 Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney. https://orcid.org/0000-0003-2356-950X Anomalous structure of the peritubular capillaries located in the medulla of the kidney. 2021-06-23T17:46:31Z human_phenotype HP:0033864 Abnormal medullary peritubular capillary morphology HP:0033864 Anomalous structure of the peritubular capillaries located in the medulla of the kidney. https://orcid.org/0000-0003-2356-950X Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. 2021-06-23T17:47:37Z human_phenotype HP:0033865 Medullary peritubular capillaritis HP:0033865 Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells. https://orcid.org/0000-0003-2356-950X Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). 2021-06-23T19:01:20Z human_phenotype HP:0033866 Medullary peritubular capillary erythrocyte congestion HP:0033866 Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open). PMID:28794065 https://orcid.org/0000-0003-2356-950X Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. 2021-06-23T19:02:46Z Multilamellation of basement membranes within medullary peritubular capillaries human_phenotype HP:0033867 Multilamellation of medullary peritubular capillary basement membranes HP:0033867 Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers. https://orcid.org/0000-0003-2356-950X Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney. 2021-06-23T19:04:46Z human_phenotype HP:0033868 Abnormal medullary peritubular capillary lumen morphology HP:0033868 Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:09:26Z Cholesterol emboli within the medullary peritubular capillary lumen human_phenotype HP:0033869 Medullary peritubular capillary lumen cholesterol emboli HP:0033869 Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. https://orcid.org/0000-0003-2356-950X Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. 2021-06-23T19:10:41Z Intraluminal thrombi within medullary peritubular capillaries human_phenotype HP:0033870 Medullary peritubular capillary intraluminal thrombi HP:0033870 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney. https://orcid.org/0000-0003-2356-950X Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney. 2021-06-23T19:17:24Z Organised thrombi within the medullary peritubular capillary lumen Organized thrombi within the medullary peritubular capillary lumen human_phenotype HP:0033871 Medullary peritubular capillary lumen organized thrombi HP:0033871 Organised thrombi within the medullary peritubular capillary lumen Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:22:33Z human_phenotype HP:0033872 Cortical peritubular capillary lumen cholesterol emboli HP:0033872 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney. 2021-06-23T19:23:11Z Intraluminal thrombi within cortical peritubular capillaries human_phenotype HP:0033873 Cortical peritubular capillary intraluminal thrombi HP:0033873 Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. 2021-06-23T19:24:00Z human_phenotype HP:0033874 Cortical peritubular capillary lumen organized thrombi HP:0033874 Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney. https://orcid.org/0000-0003-2356-950X Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. 2021-06-23T19:25:35Z human_phenotype HP:0033875 Abnormal arcuate vein lumen morphology HP:0033875 Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney. https://orcid.org/0000-0003-2356-950X Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T19:27:11Z Cholesterol emboli within arcuate vein lumen human_phenotype HP:0033876 Arcuate vein lumen cholesterol emboli HP:0033876 Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. https://orcid.org/0000-0003-2356-950X Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. 2021-06-23T19:29:12Z Intraluminal thrombi within arcuate veins human_phenotype HP:0033877 Arcuate vein intraluminal thrombi HP:0033877 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. 2021-06-23T19:31:36Z Organised thrombi within arcuate vein lumen Organized thrombi within arcuate vein lumen human_phenotype HP:0033878 Arcuate vein lumen organized thrombi HP:0033878 Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Organised thrombi within arcuate vein lumen Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. 2021-06-23T19:33:08Z human_phenotype HP:0033879 Abnormal arcuate vein intima/media morphology HP:0033879 Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining. 2021-06-23T19:35:40Z Intimal mucoid edema within arcuate veins Intimal mucoid oedema within arcuate veins human_phenotype HP:0033880 Arcuate vein intimal mucoid edema HP:0033880 Intimal mucoid oedema within arcuate veins Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. 2021-06-23T19:47:34Z Myxomatous change within arcuate vein intima/media human_phenotype HP:0033881 Arcuate vein intimal/medial myxomatous degeneration HP:0033881 Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney. https://orcid.org/0000-0003-2356-950X Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T19:48:45Z Amyloidosis within arcuate vein intima/media human_phenotype HP:0033882 Arcuate vein intima/medial amyloidosis HP:0033882 Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney. 2021-06-23T19:58:07Z Abnormal interlobular artery morphology human_phenotype HP:0033883 Abnormal cortical radial artery morphology HP:0033883 Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney. 2021-06-23T20:01:14Z Abnormal interlobular arterial lumen morphology human_phenotype HP:0033884 Abnormal cortical radial artery lumen morphology HP:0033884 Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T20:02:50Z human_phenotype HP:0033885 Cortical radial artery lumen cholesterol emboli HP:0033885 Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. https://orcid.org/0000-0003-2356-950X Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla. 2021-06-23T20:15:22Z Abnormalities of the arcuate arterial intima/media human_phenotype HP:0033886 Abnormal arcuate artery intima/media morphology HP:0033886 Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy 2021-06-23T21:57:32Z Amyloidosis within interlobular arterial intima/media Interlobular arterial intima/media amyloidosis human_phenotype HP:0033887 Cortical radial artery intimal/medial amyloidosis HP:0033887 Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy https://orcid.org/0000-0003-2356-950X Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-23T22:00:14Z Abnormalities of the interlobular arterial intima/media human_phenotype HP:0033888 Abnormal cortical radial artery intima/media morphology HP:0033888 Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. 2021-06-23T22:04:04Z human_phenotype HP:0033889 Renal blood flow originates at the hilum of the kidney through the renal artery. From the segmental artery to the interlobar artery, blood arrives parallel to the corticomedullary junction in the arcuate artery. This gives rise to the interlobular arteries that radiate toward the surface. Afferent arterioles branch off which ultimately leads into the glomerulus of Bowman's capsule. From here, efferent arterioles begin to form the venous system and subdivide into another set of capillaries known as the peritubular capillaries. Blood then leaves the kidney and enters the venous circulation. However, efferent arterioles that are located above the corticomedullary border travel downward into the medulla. They further divide into vasa recta which surround the Loop of Henle. Abnormal renal arteriole morphology HP:0033889 Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents. PMID:29489242 Abnormal structural characteristics of the interior space (lumen) of renal arterioles. 2021-06-23T22:09:47Z human_phenotype HP:0033890 Abnormal renal arteriole lumen morphology HP:0033890 Abnormal structural characteristics of the interior space (lumen) of renal arterioles. https://orcid.org/0000-0003-2356-950X Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T22:11:23Z Cholesterol emboli within the arteriolar lumen human_phenotype HP:0033891 Renal arteriolar lumen cholesterol emboli HP:0033891 Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. https://orcid.org/0000-0003-2356-950X Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. 2021-06-23T22:13:30Z human_phenotype HP:0033892 Abnormal renal arteriole intima/media morphology HP:0033892 Any structural anomaly located in the inner or middle layer of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney. 2021-06-23T22:15:03Z human_phenotype HP:0033893 Renal arteriolar lumen organized thrombi HP:0033893 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. 2021-06-23T22:16:17Z human_phenotype HP:0033894 Renal arteriolar intraluminal thrombi HP:0033894 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the lining (endothelium) of the arterioles of the kidney. 2021-06-23T22:17:46Z human_phenotype HP:0033895 Abnormal renal arteriole endothelium morphology HP:0033895 Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney. 2021-06-23T22:21:46Z Abnormalities of the arcuate arterial lumen human_phenotype HP:0033896 Abnormal arcuate artery lumen morphology HP:0033896 Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin. 2021-06-23T22:23:31Z Cholesterol emboli within arcuate arterial lumen human_phenotype HP:0033897 Arcuate artery lumen cholesterol emboli HP:0033897 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney. 2021-06-23T22:25:15Z Intraluminal thrombi within arcuate arterial lumen human_phenotype HP:0033898 Arcuate artery intraluminal thrombi HP:0033898 Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney. 2021-06-23T22:26:16Z Organised thrombi within arcuate arterial lumen Organized thrombi within arcuate arterial lumen human_phenotype HP:0033899 Arcuate artery lumen organized thrombi HP:0033899 Organised thrombi within arcuate arterial lumen Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T22:28:09Z Amyloidosis within renal arteriolar intima/media human_phenotype HP:0033900 Renal arteriole intima/media amyloidosis HP:0033900 Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney. 2021-06-23T22:31:30Z human_phenotype HP:0033901 Abnormal arcuate artery endothelium morphology HP:0033901 Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. 2021-06-23T22:35:58Z Endotheliosis within arcuate arteries human_phenotype HP:0033902 Arcuate artery endotheliosis HP:0033902 Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling. https://orcid.org/0000-0003-2356-950X Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. 2021-06-23T22:37:34Z Endoarterial hypercellularity within arcuate artery human_phenotype HP:0033903 Arcuate artery endoarterial hypercellularity HP:0033903 Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney. https://orcid.org/0000-0003-2356-950X Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. 2021-06-23T22:43:38Z human_phenotype HP:0033904 Renal arteriole intima/media hyalinosis HP:0033904 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis. https://orcid.org/0000-0003-2356-950X Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. 2021-06-23T22:47:08Z Arteriosclerosis within arcuate arterial intima/media human_phenotype HP:0033905 Arcuate artery intima/media arteriosclerosis HP:0033905 Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina. https://orcid.org/0000-0003-2356-950X Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. 2021-06-23T22:50:38Z human_phenotype HP:0033906 Renal intimal/medial arteriolitis HP:0033906 Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural. https://orcid.org/0000-0003-2356-950X Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. 2021-06-23T22:52:55Z human_phenotype HP:0033907 Renal arteriole intima/media arteriolosclerosis HP:0033907 Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina. https://orcid.org/0000-0003-2356-950X Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. 2021-06-23T22:55:09Z human_phenotype HP:0033908 Renal arteriole medial atrophy HP:0033908 Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X Increased thickness of middle layer of the arcuate veins of the kidney. 2021-06-23T23:00:18Z Medial hypertrophy within arcuate veins human_phenotype HP:0033909 Arcuate vein medial hypertrophy HP:0033909 Increased thickness of middle layer of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. 2021-06-23T23:01:44Z Medial atrophy within arcuate veins human_phenotype HP:0033910 Arcuate vein medial atrophy HP:0033910 Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:07:07Z Interlobular artery medial hypertrophy Medial hypertrophy within interlobular arteries human_phenotype HP:0033911 Cortical radial artery medial hypertrophy HP:0033911 Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:09:41Z Interlobular artery medial atrophy Medial atrophy within interlobular arteries human_phenotype HP:0033912 Cortical radial artery medial atrophy HP:0033912 Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-23T23:12:15Z Arteritis within interlobular arterial intima/media Interlobular artery medial/intimal arteriitis human_phenotype HP:0033913 Cortical radial artery medial/intimal arteriitis HP:0033913 Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy. 2021-06-23T23:14:47Z Amyloidosis within arcuate arterial intima/media human_phenotype HP:0033914 Arcuate artery intima/media amyloidosis HP:0033914 Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. 2021-06-23T23:16:39Z human_phenotype HP:0033915 Arcuate artery intimal mucoid edema HP:0033915 Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining. https://orcid.org/0000-0003-2356-950X Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. 2021-06-23T23:19:47Z human_phenotype HP:0033916 Medial/intimal arcuate venosclerosis HP:0033916 Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins. https://orcid.org/0000-0003-2356-950X Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural. 2021-06-23T23:29:43Z HP:0033919 Medial/intimal arcuate venulitis Venulitis within arcuate vein intima/media human_phenotype HP:0033917 Arcuate intimal/medial venulitis HP:0033917 Increased thickness of middle layer of the arterioles of the kidney. 2021-06-23T23:31:33Z Medial hypertrophy within arterioles human_phenotype HP:0033918 Renal arteriole medial hypertrophy HP:0033918 HP:0033917 2021-06-24T00:52:50Z human_phenotype HP:0033919 obsolete Medial/intimal arcuate venulitis true HP:0033919 Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney. 2021-06-24T00:55:23Z Accumulated storage material within arteriolar intima/media human_phenotype HP:0033920 Renal arteriole intima/media storage material accumulation HP:0033920 Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. 2021-06-24T00:57:59Z Endoarterial hypercellularity within arterioles human_phenotype HP:0033921 Renal arteriole endoarterial hypercellularity HP:0033921 Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). 2021-06-24T01:00:27Z human_phenotype HP:0033922 Renal arteriole leukocytic endoarterial hypercellularity HP:0033922 A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes). https://orcid.org/0000-0003-2356-950X A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. 2021-06-24T01:02:44Z Endoarterial hypercellularity within arterioles consisting of foam cells human_phenotype HP:0033923 Renal arteriole foam cell endoarterial hypercellularity HP:0033923 A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. https://orcid.org/0000-0003-2356-950X A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. 2021-06-24T01:04:25Z Endoarterial hypercellularity within arterioles consisting of neutrophils human_phenotype HP:0033924 Renal arteriole neutrophil endoarterial hypercellularity HP:0033924 A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen. https://orcid.org/0000-0003-2356-950X A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen. 2021-06-24T01:06:07Z Endoarterial hypercellularity within arterioles consisting of lymphocytes human_phenotype HP:0033925 Renal arteriole lymphocyte endoarterial hypercellularity HP:0033925 Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:08:40Z Multilamellation (onion skinning) within renal arteriole intima/media Renal arteriole intima/media multilamellation Renal arteriole intimal/medial onion skinning human_phenotype HP:0033926 Renal arteriole intimal/medial multilamellation HP:0033926 Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). 2021-06-24T01:12:13Z Endoarterial hypercellularity within arcuate artery consisting of leukocytes human_phenotype HP:0033927 Arcuate artery endoarterial leukocyte hypercellularity HP:0033927 Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). https://orcid.org/0000-0003-2356-950X A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. 2021-06-24T01:13:37Z Endoarterial hypercellularity within arcuate artery consisting of foam cells human_phenotype HP:0033928 Arcuate artery endoarterial foam cell hypercellularity HP:0033928 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen. https://orcid.org/0000-0003-2356-950X A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. 2021-06-24T01:14:58Z Endoarterial hypercellularity within arcuate artery consisting of neutrophils human_phenotype HP:0033929 Arcuate artery endoarterial neutrophil hypercellularity HP:0033929 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery. https://orcid.org/0000-0003-2356-950X A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. 2021-06-24T01:16:06Z Endoarterial hypercellularity within arcuate artery consisting of lymphocytes human_phenotype HP:0033930 Arcuate artery endoarterial lymphocyte hypercellularity HP:0033930 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery. https://orcid.org/0000-0003-2356-950X Death of tissue in the inner or middle layer of the arcuate artery of the kidney. 2021-06-24T01:19:00Z human_phenotype HP:0033931 Arcuate artery intima/media necrosis HP:0033931 Death of tissue in the inner or middle layer of the arcuate artery of the kidney. https://orcid.org/0000-0003-2356-950X A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. 2021-06-24T01:20:42Z Coagulative necrosis within interlobular arterial intima/media human_phenotype HP:0033932 Arcuate artery intima/media coagulative necrosis HP:0033932 A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures. https://orcid.org/0000-0003-2356-950X A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:22:54Z Liquefactive necrosis of the arcuate artery intima/media human_phenotype HP:0033933 Arcuate artery intima/media liquefactive necrosis HP:0033933 A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. https://orcid.org/0000-0003-2356-950X Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:25:46Z Multilamellation (onion skinning) within arteriolar intima/media Renal arteriole intima/media onion skinning human_phenotype HP:0033934 Arcuate vein intimal/medial storage material accumulation HP:0033934 Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. 2021-06-24T01:36:18Z Necrosis within interlobular arterial intima/media human_phenotype HP:0033935 Cortical radial artery intima/media necrosis HP:0033935 Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:39:31Z Liquefactive necrosis within interlobular arterial intima/media human_phenotype HP:0033936 Cortical radial artery intima/media liquefactive necrosis HP:0033936 A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. https://orcid.org/0000-0003-2356-950X A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:41:26Z human_phenotype HP:0033937 Cortical radial artery intima/media coagulative necrosis HP:0033937 A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. https://orcid.org/0000-0003-2356-950X Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:43:41Z human_phenotype HP:0033938 Renal arteriole intima/media necrosis HP:0033938 Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney. https://orcid.org/0000-0003-2356-950X A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:44:32Z Liquefactive necrosis of the renal arteriolar intima/media human_phenotype HP:0033939 Renal arteriole intima/media liquefactive necrosis HP:0033939 A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:45:29Z human_phenotype HP:0033940 Renal arteriole intima/media coagulative necrosis HP:0033940 A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. https://orcid.org/0000-0003-2356-950X A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T01:48:02Z Granulomatous arteriolitis within arteriolar intima/media human_phenotype HP:0033941 Granulomatous arteriolitis of the arteriolar intima/media HP:0033941 A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. https://orcid.org/0000-0003-2356-950X Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:51:19Z Necrosis within arcuate vein intima/media human_phenotype HP:0033942 Arcuate vein medial/intimal necrosis HP:0033942 A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T01:52:16Z Coagulative necrosis within arcuate vein intima/media human_phenotype HP:0033943 Arcuate vein medial/intimal coagulative necrosis HP:0033943 A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. https://orcid.org/0000-0003-2356-950X A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T01:53:42Z Liquefactive necrosis within arcuate vein intima/media human_phenotype HP:0033944 Arcuate vein medial/intimal liquefactive necrosis HP:0033944 A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. https://orcid.org/0000-0003-2356-950X A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. 2021-06-24T01:56:15Z human_phenotype HP:0033945 Arcuate intimal/medial granulomatous venulitis HP:0033945 A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. https://orcid.org/0000-0003-2356-950X Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. 2021-06-24T01:57:38Z human_phenotype HP:0033946 Arcuate vein intima/media crystal accumulation HP:0033946 Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney. https://orcid.org/0000-0003-2356-950X Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney. 2021-06-24T01:59:04Z Accumulated crystals within renal arteriolar intima/media human_phenotype HP:0033947 Renal arteriole intima/media crystal accumulation HP:0033947 Inflammation of the inner or middle layer of the arcuate arteries of the kidney. 2021-06-24T12:14:55Z Arteritis within arcuate arterial intima/media human_phenotype HP:0033948 Arcuate artery intima/media arteriitis HP:0033948 Inflammation of the inner or middle layer of the arcuate arteries of the kidney. https://orcid.org/0000-0003-2356-950X A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T12:16:22Z Granulomatous arteritis within arcuate arterial intima/media human_phenotype HP:0033949 Arcuate artery intima/media granulomatous arteriitis HP:0033949 Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. 2021-06-24T12:18:01Z Intraluminal thrombi within interlobular arterial lumen human_phenotype HP:0033950 Cortical radial artery intraluminal thrombi HP:0033950 Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. 2021-06-24T12:19:35Z Organised thrombi within interlobular arterial lumen Organized thrombi within interlobular arterial lumen human_phenotype HP:0033951 Cortical radial artery intraluminal organized thrombi HP:0033951 Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X Organised thrombi within interlobular arterial lumen Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-24T12:21:16Z Abnormalities of the interlobular arterial endothelium human_phenotype HP:0033952 Abnormal cortical radial artery endothelium morphology HP:0033952 Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. 2021-06-24T12:24:50Z Endotheliosis within interlobular arteries human_phenotype HP:0033953 Cortical radial artery endotheliosis HP:0033953 Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling. https://orcid.org/0000-0003-2356-950X Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. 2021-06-24T12:26:44Z Endoarterial hypercellularity within interlobular artery human_phenotype HP:0033954 Cortical radial artery hypercellularity HP:0033954 Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney. https://orcid.org/0000-0003-2356-950X A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes). 2021-06-24T12:28:14Z Endoarterial hypercellularity within interlobular artery consisting of leukocytes human_phenotype HP:0033955 Cortical radial artery leukocyte hypercellularity HP:0033955 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. 2021-06-24T12:29:21Z Endoarterial hypercellularity within interlobular artery consisting of lymphocytes human_phenotype HP:0033956 Cortical radial artery lymphocyte hypercellularity HP:0033956 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries. https://orcid.org/0000-0003-2356-950X A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries. 2021-06-24T12:30:32Z Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils human_phenotype HP:0033957 Cortical radial artery neutrophil hypercellularity HP:0033957 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. 2021-06-24T12:31:30Z Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells human_phenotype HP:0033958 Cortical radial artery foam cell hypercellularity HP:0033958 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney. https://orcid.org/0000-0003-2356-950X Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. 2021-06-24T12:33:40Z Arteriosclerosis within interlobular arterial intima/media human_phenotype HP:0033959 Cortical radial artery intima/media arteriosclerosis HP:0033959 Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina. https://orcid.org/0000-0003-2356-950X Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. 2021-06-24T12:35:18Z Intimal mucoid edema within interlobular arterial intima/media Intimal mucoid oedema within interlobular arterial intima/media human_phenotype HP:0033960 Cortical radial artery intimal mucoid edema HP:0033960 Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. https://orcid.org/0000-0003-2356-950X Intimal mucoid oedema within interlobular arterial intima/media Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. 2021-06-24T12:38:03Z Cortical radial artery intima/media onion skinning Multilamellation (onion skinning) within interlobular arterial intima/media human_phenotype HP:0033961 Cortical radial artery intima/media multilamellation HP:0033961 Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers. https://orcid.org/0000-0003-2356-950X A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. 2021-06-24T12:39:37Z human_phenotype HP:0033962 Cortical radial artery medial/intimal granulomatous arteriitis HP:0033962 A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries. https://orcid.org/0000-0003-2356-950X Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney. 2021-06-24T12:45:15Z human_phenotype HP:0033963 Abnormal interlobular vein intima/media morphology HP:0033963 Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. 2021-06-24T12:46:18Z Venosclerosis within interlobular vein intima/media human_phenotype HP:0033964 Interlobular intima/media venosclerosis HP:0033964 Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney. https://orcid.org/0000-0003-2356-950X Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining. 2021-06-24T12:47:37Z Intimal mucoid edema within interlobular veins Intimal mucoid oedema within interlobular veins human_phenotype HP:0033965 Interlobular vein intimal mucoid edema HP:0033965 Intimal mucoid oedema within interlobular veins Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy 2021-06-24T12:49:34Z Amyloidosis within interlobular vein intima/media human_phenotype HP:0033966 Interlobular vein intima/media amyloidosis HP:0033966 Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy https://orcid.org/0000-0003-2356-950X Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. 2021-06-24T12:51:02Z Venulitis within interlobular vein intima/media human_phenotype HP:0033967 Interlobular vein intima/media venulitis HP:0033967 Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural. https://orcid.org/0000-0003-2356-950X A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. 2021-06-24T12:52:16Z Granulomatous venulitis within interlobular vein intima/media human_phenotype HP:0033968 Interlobular vein intima/media granulomatous venulitis HP:0033968 A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins. https://orcid.org/0000-0003-2356-950X Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. 2021-06-24T12:53:42Z Necrosis within interlobular vein intima/media human_phenotype HP:0033969 Interlobular vein intima/media necrosis HP:0033969 Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney. https://orcid.org/0000-0003-2356-950X A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. 2021-06-24T12:54:39Z Liquefactive necrosis within interlobular vein intima/media human_phenotype HP:0033970 Interlobular vein intima/media liquefactive necrosis HP:0033970 A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized. https://orcid.org/0000-0003-2356-950X A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. 2021-06-24T12:56:00Z human_phenotype HP:0033971 Interlobular vein intima/media coagulative necrosis HP:0033971 A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures. https://orcid.org/0000-0003-2356-950X Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. 2021-06-24T12:57:16Z Medial atrophy within interlobular veins human_phenotype HP:0033972 Interlobular vein medial atrophy HP:0033972 Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney. https://orcid.org/0000-0003-2356-950X Increased thickness of middle layer of the interlobular veins of the kidney. 2021-06-24T12:58:30Z Medial hypertrophy within interlobular veins human_phenotype HP:0033973 Interlobular vein medial hypertrophy HP:0033973 Increased thickness of middle layer of the interlobular veins of the kidney. https://orcid.org/0000-0003-2356-950X Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. 2021-06-24T14:07:35Z Interlobular vein intima/media onion skinning Multilamellation (onion skinning) within interlobular vein intima/media human_phenotype HP:0033974 Interlobular vein intima/media multilamellation HP:0033974 Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers. https://orcid.org/0000-0003-2356-950X Absence of the fingernail of the index (second) finger. 2021-06-25T13:58:53Z human_phenotype HP:0033975 Absent second fingernail HP:0033975 Absence of the fingernail of the index (second) finger. PMID:33568816 The presence of an extra nail on the palmar (volar, ventral) surface of the finger. 2021-06-25T14:01:35Z Palmar fingernail Ventral fingernail human_phenotype HP:0033976 Volar fingernail HP:0033976 The presence of an extra nail on the palmar (volar, ventral) surface of the finger. PMID:20724029 Absent talus owing to a congenital defect. 2021-06-25T14:07:43Z Absent talus Talus aplasia human_phenotype HP:0033977 Talar aplasia HP:0033977 Absent talus owing to a congenital defect. PMID:28436373 Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. 2021-06-25T14:10:29Z Hexosaminidase B low in blood human_phenotype HP:0033978 Reduced beta-hexosaminidase B activity HP:0033978 Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. PMID:33407268 Excessive anterior displacement of the tracheal and/or bronchial membranous wall. 2021-07-15T11:33:37Z Membranous tracheobronchomalacia human_phenotype HP:0033979 Excessive dynamic airway collapse HP:0033979 Excessive anterior displacement of the tracheal and/or bronchial membranous wall. https://orcid.org/0000-0002-4095-8489 Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. 2021-07-15T11:36:24Z human_phenotype HP:0033980 Paroxysmal tonic upgaze HP:0033980 Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. PMID:29095389 Abnormal tortuous (i.e., twisted) form of the vertebral arteries. 2021-07-15T11:39:56Z Tortuous vertebral arteries human_phenotype HP:0033981 Vertebral artery tortuosity HP:0033981 A separation (dissection) of the layers of the celiac artery wall. 2021-07-15T11:41:29Z human_phenotype HP:0033982 Celiac artery dissection HP:0033982 A separation (dissection) of the layers of the celiac artery wall. PMID:32938213 The concentration of apolipoprotein C-II in the blood circulation is below the lower limit of normal. 2021-07-15T11:42:48Z Decreased apolipoprotein C-II concentration Decreased apolipoprotein C-II level Decreased apolipoprotein C-II level in blood Decreased circulating apolipoprotein C-II concentration Decreased plasma apolipoprotein C-II Reduced apolipoprotein C-II concentration Reduced apolipoprotein C-II level Reduced apolipoprotein C-II level in blood human_phenotype HP:0033983 Decreased circulating apolipoprotein C-II concentration HP:0033983 An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. 2021-07-15T11:47:35Z Increased urinary 8-oxo-7,8-dihydroguanosine Increased urinary 8-oxo-Gsn level Increased urine 8-oxo-7,8-dihydroguanosine Increased urine 8-oxo-GMP human_phenotype HP:0033984 Increased urinary 8-oxo-7,8-dihydroguanosine level HP:0033984 Increased length of the neck of the femur. 2021-07-15T11:54:11Z Long femoral neck human_phenotype HP:0033985 Elongated femoral neck HP:0033985 Increased length of the neck of the femur. PMID:33252156 The presence of an increased number of twists and turns of lymphatic vessels. 2021-07-15T11:55:44Z Tortuous lymphatics human_phenotype HP:0033986 This feature can be ascertained by near-infrared fluorescence lymphatic imaging. Tortuous lymphatic vessels HP:0033986 The presence of an increased number of twists and turns of lymphatic vessels. PMID:26855770 A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites. 2021-07-15T12:04:04Z human_phenotype HP:0033987 Phosphaturic mesenchymal tumor HP:0033987 A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites. PMID:33442358 An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. 2021-08-18T12:10:54Z human_phenotype HP:0033988 Amygdala microinfarct HP:0033988 An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically. PMID:10867785 https://orcid.org/0000-0003-2307-1226 An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. 2021-08-18T12:19:23Z human_phenotype HP:0033989 Hippocampal microinfarct HP:0033989 An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically. PMID:10867785 https://orcid.org/0000-0003-2307-1226 Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness. 2021-08-18T12:24:04Z Cartilaginous malacia human_phenotype HP:0033990 This term is to be distinguihsed from its sibling Excessive dynamic airway collapse, which refers to excessive anterior displacement of the membranous wall of the trachea. Cartilaginous tracheobronchomalacia HP:0033990 Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally. 2021-08-18T12:29:15Z human_phenotype HP:0033991 This abnormality is problematic because of the location of the unprotected vessels. If the fetal head compresses these vessels, it can result in fetal hypoperfusion and acidemia. If the vessels rupture it can lead to fetal hemorrhage. Vasa previa HP:0033991 Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally. PMID:32028503 PMID:33880195 Inability of the heart to increase its rate commensurate with increased activity or demand. 2021-08-20T13:16:38Z human_phenotype HP:0033992 Chronotropic incompetence is common in patients with cardiovascular disease, produces exercise intolerance that impairs quality of life, and is an independent predictor of major adverse cardiovascular events and overall mortality. Chronotropic incompetence HP:0033992 Inability of the heart to increase its rate commensurate with increased activity or demand. PMID:21382903 An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction. 2021-08-21T11:43:59Z human_phenotype HP:0033993 Severe viral infections including viral encephalitis may occur in individuals with underlying mmunodeficiencies. Viral encephalitis HP:0033993 An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction. PMID:21960712 PMID:30366550 Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition. 2021-08-21T12:07:39Z human_phenotype HP:0033994 Dependency on parenteral nutrition HP:0033994 The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. 2021-08-21T13:07:59Z human_phenotype HP:0033995 See figure 1 of PMID:26830108. Microvillus inclusions HP:0033995 The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes. PMID:26830108 The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. 2021-08-21T13:12:12Z human_phenotype HP:0033996 See figure 1 of PMID:26830108. Microvillar PAS-positive secretory granules HP:0033996 The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures. PMID:26830108 Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. 2021-08-21T14:08:32Z human_phenotype HP:0033997 Perinuclear cardiomyocyte vacuolization HP:0033997 Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart. PMID:32514796 A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. 2021-08-21T14:11:58Z human_phenotype HP:0033998 Single-lobed right lung HP:0033998 A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes. PMID:17853480 Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy. 2021-08-21T14:20:44Z Bronchial bleeding human_phenotype HP:0033999 Bronchial hemorrhage HP:0033999 Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy. https://orcid.org/0000-0002-0104-692X Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy. 2021-08-21T14:33:33Z Tracheal bleeding human_phenotype HP:0034000 Tracheal hemorrhage HP:0034000 Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy. https://orcid.org/0000-0002-0104-692X The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. 2021-08-21T14:41:55Z CFH autoantibodies human_phenotype HP:0034001 Anti-Complement factor H antibody positivity HP:0034001 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H. PMID:34032207 PMID:34032209 https://orcid.org/0000-0002-3387-1836 CFH autoantibodies The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. 2021-08-21T14:45:11Z Anti-PLA2R antibody positivity human_phenotype HP:0034002 Anti-phospholipase A2 receptor antibody positivity HP:0034002 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor. PMID:34169209 PMID:34277215 https://orcid.org/0000-0002-3387-1836 Anti-PLA2R antibody positivity Regional increase in the width (height) of the middle portion of the eyebrow. 2021-08-22T12:13:23Z Medial broadening of eyebrows human_phenotype HP:0034003 Broad medial eyebrow HP:0034003 Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli. 2021-08-22T14:50:56Z human_phenotype HP:0034004 Parosmia should be distinguished from anosmia (lack of sense of smell), hyposmia (reduced sense of smell), and phantosmia (olfactory perception without a stimulus). Parosmia HP:0034004 Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli. PMID:33790036 PMID:34055592 An abnormal reduction in the amount of spines on a given dendrite. 2021-08-22T15:18:59Z human_phenotype HP:0034005 A dendritic spine (or spine) is a small membranous protrusion from a neuron's dendrite that typically receives input from a single axon at the synapse. Dendrites are tree-like membrane-bound structures that project from neurons and receive inputs from other neurons. Decreased dendritic spine number HP:0034005 A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. 2021-08-22T16:26:40Z human_phenotype HP:0034006 Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio HP:0034006 A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation. PMID:26306627 The presence of atrophy (wasting) of the posterior portion of the corpus callosum. 2021-08-22T17:54:02Z human_phenotype HP:0034007 Posterior atrophy of corpus callosum HP:0034007 Wasting (atrophy) of the optic chiasm. 2021-08-22T17:57:25Z human_phenotype HP:0034008 Opto-chiasmatic atrophy HP:0034008 Wasting (atrophy) of the optic chiasm. PMID:34161705 Overgrowth of fat in the perivesical and perirectal area. 2021-08-22T21:26:45Z human_phenotype HP:0034009 Pelvic lipomatosis HP:0034009 Overgrowth of fat in the perivesical and perirectal area. PMID:25247089 Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. 2021-08-27T18:00:22Z human_phenotype HP:0034010 Increased megakaryocyte colony forming unit count HP:0034010 Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow. PMID:10891439 A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. 2021-09-04T11:47:38Z Non-progressive sperm motility human_phenotype HP:0034011 Reduced progressive sperm motility HP:0034011 A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion. PMID:8957699 Decreased sweating on the palms and soles. 2021-09-23T11:37:29Z human_phenotype HP:0034012 Palmoplantar hypohidrosis HP:0034012 Decreased sweating on the palms and soles. PMID:24664640 A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. 2021-09-04T14:49:18Z human_phenotype HP:0034013 Curvilinear pericallosal lipoma HP:0034013 A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum. PMID:28067000 PMID:30104143 PMID:31285412 https://orcid.org/0000-0002-3302-4610 A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. 2021-09-04T14:51:33Z human_phenotype HP:0034014 Tubulonodular pericallosal lipoma HP:0034014 A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles. PMID:1885799 PMID:31587959 https://orcid.org/0000-0002-3302-4610 Thick-walled abnormal gas-filled interstitial nodule within a lung. 2021-09-04T14:54:42Z human_phenotype HP:0034015 Cavitating pulmonary nodule HP:0034015 Thick-walled abnormal gas-filled interstitial nodule within a lung. https://orcid.org/0000-0002-4095-8489 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). 2021-09-04T15:08:39Z Anti-human leukocyte antigen antibody positivity human_phenotype HP:0034016 The human major histocompatibility complex is a family of genes that encodes HLAs, which have a crucial role in defense against foreign pathogens and immune surveillance of tumors. HLA molecules are highly polymorphic antigens; antibodies against these antigens can develop as a result of pregnancy, transplantation or blood transfusion. Anti-HLA antibody positivity HP:0034016 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA). PMID:29985463 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C). 2021-09-04T15:17:24Z human_phenotype HP:0034017 Anti-class I HLA antibody positivity HP:0034017 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR). 2021-09-04T15:21:00Z human_phenotype HP:0034018 Anti-class II HLA antibody positivity HP:0034018 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A). 2021-09-04T15:22:26Z human_phenotype HP:0034019 Anti-HLA-A antibody positivity HP:0034019 The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). 2021-09-04T15:24:11Z human_phenotype HP:0034020 Anti-HLA-A IgG1 antibody positivity HP:0034020 The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A). 2021-09-04T15:25:15Z human_phenotype HP:0034021 Anti-HLA-A IgG3 antibody positivity HP:0034021 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B). 2021-09-04T15:26:03Z human_phenotype HP:0034022 Anti-HLA-B antibody positivity HP:0034022 The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). 2021-09-04T15:27:03Z human_phenotype HP:0034023 Anti-HLA-B IgG1 antibody positivity HP:0034023 The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B). 2021-09-04T15:27:55Z human_phenotype HP:0034024 Anti-HLA-B IgG3 antibody positivity HP:0034024 Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation. 2021-09-04T15:32:30Z human_phenotype HP:0034025 Abnormal circulating GABA concentration HP:0034025 An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. 2021-09-04T16:30:15Z HP:0034994 human_phenotype HP:0034026 Elevated circulating saccharopine concentration HP:0034026 An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine. PMID:571908 HP:0033098 2021-09-04T16:34:33Z human_phenotype HP:0034027 obsolete Abnormal urinary non-proteinogenic amino acid level true HP:0034027 HP:6000283 2021-09-04T16:35:22Z human_phenotype HP:0034028 obsolete Saccharopinuria true HP:0034028 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. 2021-09-24T12:01:44Z HP:6000159 Foamy cells on hepatic biopsy Hepatic lipid-laden macrophage infiltration Liver biopsy: lipid-laden macrophages human_phenotype HP:0034029 See figure 2 of PMID:17939344. Hepatic foam cells HP:0034029 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver. PMID:17939344 Bluish discoloration of the lips. 2021-09-24T13:02:41Z Bluish lips Cyanotic lips Labial cyanosis human_phenotype HP:0034030 Lip cyanosis HP:0034030 Bluish discoloration of the lips. https://orcid.org/0000-0002-9578-0788 Bluish lips Bluish discoloration of one or more regions of the face. 2021-09-24T13:04:45Z Bluish face Cyanotic face human_phenotype HP:0034031 Facial cyanosis HP:0034031 Bluish discoloration of one or more regions of the face. https://orcid.org/0000-0002-9578-0788 Bluish face Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. 2021-09-24T13:34:46Z human_phenotype HP:0034032 Central cyanosis HP:0034032 Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. PMID:32644593 https://orcid.org/0000-0002-9578-0788 Bluish discoloration of the distal extremities in the absence of cold temperature or stress. Peripheral cyanosis can involve hands, fingertips, or toes, and sometimes circumoral and periorbital areas. Mucous membranes are generally not involved. 2021-09-24T13:36:17Z human_phenotype HP:0034033 Peripheral cyanosis HP:0034033 Bluish discoloration of the distal extremities in the absence of cold temperature or stress. Peripheral cyanosis can involve hands, fingertips, or toes, and sometimes circumoral and periorbital areas. Mucous membranes are generally not involved. PMID:32644593 https://orcid.org/0000-0002-9578-0788 Differential degree of bluish discoloration between the upper and lower extremities. 2021-09-24T13:37:44Z human_phenotype HP:0034034 Differential cyanosis HP:0034034 Differential degree of bluish discoloration between the upper and lower extremities. PMID:32644593 https://orcid.org/0000-0002-9578-0788 Fluid exuded from the posterior wall of the pharynx. 2021-09-24T13:44:05Z Fluid from the pharynx Pharyngeal fluid human_phenotype HP:0034035 Pharyngeal exudate HP:0034035 Fluid exuded from the posterior wall of the pharynx. https://orcid.org/0000-0002-9578-0788 Inflammatory chilblain-like nodules on the feet and/or toes. 2021-09-24T13:48:17Z COVID toe Chilblain-like toe lesions Chilblain-like toes human_phenotype HP:0034036 Pseudo-chilblains on toes HP:0034036 Inflammatory chilblain-like nodules on the feet and/or toes. PMID:33972057 https://orcid.org/0000-0002-9578-0788 COVID toe Inflammatory chilblain-like nodules on the hands and/or fingers. 2021-09-24T13:50:37Z COVID finger COVID fingers human_phenotype HP:0034037 Pseudo-chilblains on fingers HP:0034037 Inflammatory chilblain-like nodules on the hands and/or fingers. PMID:33972057 https://orcid.org/0000-0002-9578-0788 COVID finger COVID fingers Abnormally low blood oxygen level without the presence of dyspnea. 2021-09-24T14:01:11Z human_phenotype HP:0034038 Silent hypoxemia HP:0034038 Abnormally low blood oxygen level without the presence of dyspnea. PMID:32539537 https://orcid.org/0000-0002-9578-0788 Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats. 2021-09-25T11:58:55Z Doublet premature ventricular contractions human_phenotype HP:0034039 Ventricular couplet HP:0034039 Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats. PMID:24826218 Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. 2021-09-25T12:28:13Z human_phenotype HP:0034040 Bidirectional ventricular tachycardia HP:0034040 Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm. PMID:25173208 PMID:30567276 HP:0006682 2021-09-25T12:29:44Z human_phenotype HP:0034041 obsolete Ventricular ectopy true HP:0034041 Abnormally increased hair growth in the lskin of the back. 2021-10-02T12:18:04Z human_phenotype HP:0034042 Dorsal hirsutism HP:0034042 Elevated amount of bile acids in the feces. 2021-10-15T13:54:55Z human_phenotype HP:0034043 Bile acids are synthesized from cholesterol in the liver and have major roles in the absorption of lipids in the small intestine. After their involvement in micelle formation in the small intestine, they are usually effectively reabsorbed in the terminal ileum, and efficiently (over 95%) reabsorbed by the liver from the portal venous blood, and resecreted. Increased fecal bile acid HP:0034043 Elevated amount of bile acids in the feces. PMID:9109432 Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. 2021-10-15T14:26:57Z Trident sign human_phenotype HP:0034044 This sign is seen in achondroplasia, Jeune's asphyxiating thoracic dystrophy, Ellis-van Creveld syndrome, and thanatophoric dysplasia. See Figures 2 and 4A in PMID:28744080. Trident pelvis HP:0034044 Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident. PMID:28744080 Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. 2021-10-19T16:38:38Z Angular muscle fibers Angular muscle fibres human_phenotype HP:0034045 Muscle fibers showing neurogenic atrophy are compressed by neighboring non-atrophic fibers and may show an angulated appearance on a transverse section. See Figure 3A in PMID:32529201. Angulated muscle fibers HP:0034045 Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. PMID:22938878 PMID:32529201 Angular muscle fibres Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. 2021-10-19T16:42:11Z human_phenotype HP:0034046 Mandibular osteolysis HP:0034046 Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible. PMID:21932319 Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. 2021-10-19T16:45:03Z human_phenotype HP:0034047 Rib osteolysis HP:0034047 Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib. PMID:21932319 A reduced concentration of chenodeoxycholic acid in the blood circulation. 2021-10-19T16:49:15Z Decreased circulating chenodiol concentration human_phenotype HP:0034048 Chenodeoxycholic acid (chenodiol) is a primary bile acid, synthesized in the liver and present in high concentrations in bile. Decreased circulating chenodeoxycholic acid concentration HP:0034048 An increased amount of prostaglandin E2 in the urine. 2021-10-19T16:53:41Z Elevated urinary PGE2 level human_phenotype HP:0034049 Elevated urinary prostaglandin E2 level HP:0034049 An increased amount of prostaglandin E2 in the urine. PMID:24838973 Elevated urinary PGE2 level An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. 2021-10-19T16:57:43Z human_phenotype HP:0034050 In vivo, PGE2 is rapidly converted to its 13,14-dihydro-15-keto metabolite, with more than 90% of circulating PGE2 cleared by a single passage through the lungs. This metabolite is chemically unstable and undergoes a variable amount of degradation to prostaglandin A (PGA) products. Thus, plasma and urine samples from patients actually contain very little intact PGE2, and the PGE2 metabolites (PGEM) can be measured to provide a more reliable estimate of actual PGE2 production. Elevated urinary prostaglandin E2 metabolite level HP:0034050 An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine. PMID:28700713 Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. 2021-10-19T17:09:38Z human_phenotype HP:0034051 Hypoplastic anterior limbs of the internal capsule HP:0034051 Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule. PMID:32395406 Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes. 2021-10-19T17:13:55Z human_phenotype HP:0034052 Impaired toe-walking ability HP:0034052 2021-11-24T11:39:17Z human_phenotype HP:0034053 Reduced activity of acid ceramidase (AC; alsoknown as N-acylsphingosine amidohydrolase; EC 3.5.1.23). The test is usually performed in cultured patient fibroblasts. Decreased acid ceramidase activity HP:0034053 Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. 2021-11-24T12:09:26Z human_phenotype HP:0034054 The formation of Probst bundles is the most common structural anomaly associated with callosal dysgenesis. Probst bundles HP:0034054 Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles. PMID:17898206 PMID:33642486 The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). 2021-12-18T14:02:13Z Anti-P450scc human_phenotype HP:0034055 Anti-side-chain cleavage enzyme antibody positivity HP:0034055 The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583). PMID:9030872 https://orcid.org/0000-0002-3387-1836 Anti-P450scc An increased amount of calprotectin in the feces. 2021-11-27T14:02:14Z human_phenotype HP:0034056 Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in feces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and fecal calprotectin is used as a biomarker in gastrointestinal disorders. Increased fecal calprotectin level HP:0034056 Calprotectin is a calcium- and zinc-binding protein of the S-100 protein family which is mainly found within neutrophils and throughout the human body. The presence of calprotectin in feces is a consequence of neutrophil migration into the gastrointestinal tissue due to an inflammatory process. Faecal calprotectin concentrations demonstrate good correlation with intestinal inflammation and fecal calprotectin is used as a biomarker in gastrointestinal disorders. PMID:28420947 PMID:30828114 Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate. 2021-11-27T19:01:00Z human_phenotype HP:0034057 Fetal anomaly HP:0034057 Any structural anomaly of the fetus. 2021-11-27T19:03:05Z Structural fetal anomaly Structural foetal anomaly human_phenotype HP:0034058 Abnormal fetal morphology HP:0034058 Structural foetal anomaly Any functional anomaly of the fetus. 2021-11-27T19:03:33Z Functional fetal anomaly Functional foetal anomaly human_phenotype HP:0034059 Abnormal fetal physiology HP:0034059 Functional foetal anomaly Applies to a sign or symptom that is provoked or brought about by eating fava beans. 2021-11-27T19:36:52Z human_phenotype HP:0034060 The fava bean plant (Vicia faba) was probably one of the first plants to be domesticated, V. faba contains high concentrations of two beta-glucosides (up to 2% in dry weight): vicine and convicine. On ingestion of fava beans, vicine and convicine undergo hydrolysis by glucosidases present both in the beans and in the gastrointestinal tract, releasing the respective aglycones: divicine (2,6-diamino-4,5-dihydroxypyrimidine) and isouramil (6-amino-2,4,5-trihydroxypyrimidine). These highly reactive redox compounds have antifungal and pesticide activity, which probably helps prevent fava beans from rotting, but the compounds are also capable of triggering a favism attack in persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Triggered by fava bean ingestion HP:0034060 Applies to a sign or symptom that is provoked or brought about by eating fava beans. PMID:29298156 The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. 2021-12-18T14:04:25Z Anti-P450C17 human_phenotype HP:0034061 Anti-steroid 17alpha-hydroxylase antibody positivity HP:0034061 The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase. PMID:9030872 https://orcid.org/0000-0002-3387-1836 Anti-P450C17 The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. 2021-12-18T14:09:23Z IAA positivity Insulin autoantibodies human_phenotype HP:0034062 Anti-insulin antibody positivity HP:0034062 The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. PMID:17143785 https://orcid.org/0000-0002-3387-1836 IAA positivity The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. 2021-12-18T14:13:16Z Anti-IA2 antibody positivity Anti-IA2A ICA512 human_phenotype HP:0034063 Anti-islet antigen-2 antibody positivity HP:0034063 The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. PMID:9693976 https://orcid.org/0000-0002-3387-1836 Anti-IA2 antibody positivity Anti-IA2A The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. 2021-12-18T14:18:22Z Anti-SP1 antibody positivity human_phenotype HP:0034064 Anti-salivary protein antibody positivity HP:0034064 The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein. PMID:34249010 https://orcid.org/0000-0002-3387-1836 Anti-SP1 antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. 2021-12-18T14:20:26Z Anti ZnT8 autoantibodies human_phenotype HP:0034065 Anti-Zinc transporter 8 antibody positivity HP:0034065 The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8. PMID:32946793 https://orcid.org/0000-0002-3387-1836 Anti ZnT8 autoantibodies The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. 2021-12-18T14:22:44Z Anti-CA6 antibody positivity human_phenotype HP:0034066 Anti-carbonic anhydrase VI antibody positivity HP:0034066 The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI. PMID:34249010 https://orcid.org/0000-0002-3387-1836 Anti-CA6 antibody positivity Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. 2021-12-18T14:25:21Z Clumping of the keratin tonofilaments human_phenotype HP:0034067 Tonofilament clumping HP:0034067 Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes. PMID:18461349 PMID:7529919 The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. 2021-12-18T14:30:53Z Anti-PBP antibody positivity human_phenotype HP:0034068 Anti-plasminogen binding peptide antibody positivity HP:0034068 The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide. PMID:30075546 https://orcid.org/0000-0002-3387-1836 Anti-PBP antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. 2021-12-18T14:33:01Z Anti-PSP antibody positivity human_phenotype HP:0034069 Anti-parotid secretory protein antibody positivity HP:0034069 The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein. PMID:34249010 https://orcid.org/0000-0002-3387-1836 Anti-PSP antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. 2021-12-18T14:35:11Z AEA human_phenotype HP:0034070 Anti-enterocyte antibody positivity HP:0034070 The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes. PMID:24051695 PMID:33744411 https://orcid.org/0000-0002-3387-1836 AEA The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. 2021-12-18T14:39:15Z Anti-P450c21 human_phenotype HP:0034071 Anti-21-hydroxylase antibody positivity HP:0034071 The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase. PMID:22707647 PMID:9030872 https://orcid.org/0000-0002-3387-1836 Anti-P450c21 Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. 2021-12-18T14:48:21Z human_phenotype HP:0034072 Hyperechoic structures are seen as brighter on the US image relative to surrounding structures due to higher reflectivity of the US beam. Isoechoic structures are seen as bright as surrounding structures on conventional US imaging due to similar reflectivity to the US beam. Hypoechoic structures are seen as darker relative to the surrounding structures on the US image due to the US beam being reflected to a lesser extent. Anechoic structures that lack internal reflectors fail to reflect the US beam to the transducer and are seen as homogeneously black on imaging. Abnormal fetal long-bone echogenicity HP:0034072 Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging. PMID:21472065 An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis. 2021-12-18T14:49:43Z human_phenotype HP:0034073 Reduced fetal long bone echogenicity HP:0034073 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization. 2021-12-18T14:51:01Z human_phenotype HP:0034074 Increased fetal long bone echogenicity HP:0034074 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization. PMID:24091809 PMID:28548288 The concentration of apolipoprotein B in the blood circulation is below the lower limit of normal. 2021-12-18T14:54:34Z human_phenotype HP:0034075 Apolipoprotein B is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. Decreased circulating apolipoprotein B concentration HP:0034075 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. 2021-12-19T02:20:15Z human_phenotype HP:0034076 Anti-ribosome Po antibody positivity HP:0034076 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po. PMID:14645862 PMID:25815344 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. 2021-12-19T02:21:55Z Anti-C1q antibody positivity human_phenotype HP:0034077 Anti-complement component C1q antibody positivity HP:0034077 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q. PMID:25815344 https://orcid.org/0000-0002-3387-1836 Anti-C1q antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. 2021-12-19T02:24:08Z Anti-CENP-A antibody positivity human_phenotype HP:0034078 Anti-centromere protein A antibody positivity HP:0034078 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A. PMID:30316987 https://orcid.org/0000-0002-3387-1836 Anti-CENP-A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. 2021-12-19T02:26:26Z Anti-CENP-B antibody positivity human_phenotype HP:0034079 Anti-centromere protein B antibody positivity HP:0034079 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B. PMID:30316987 https://orcid.org/0000-0002-3387-1836 Anti-CENP-B antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. 2021-12-19T02:28:07Z Anti-fibrillarin antibody positivity human_phenotype HP:0034080 Anti-U3 RNP antibody positivity HP:0034080 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP. PMID:34207757 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. 2021-12-19T02:30:26Z human_phenotype HP:0034081 Anti-Th/To antibody positivity HP:0034081 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To. PMID:30316987 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. 2021-12-19T02:31:17Z Anti-BICD2 antibody positivity human_phenotype HP:0034082 Anti-bicaudal D2 antibody positivity HP:0034082 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2. PMID:29369808 https://orcid.org/0000-0002-3387-1836 Anti-BICD2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. 2021-12-19T02:32:38Z Anti-Nor90 antibody positivity human_phenotype HP:0034083 Anti-nucleolus-organizing region antibody positivity HP:0034083 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90. PMID:28749191 https://orcid.org/0000-0002-3387-1836 Anti-Nor90 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. 2021-12-19T02:34:15Z human_phenotype HP:0034084 Anti-phosphatidyl ethanolamine antibody positivity HP:0034084 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine. PMID:22796282 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. 2021-12-19T02:35:08Z human_phenotype HP:0034085 Anti-PM-Scl100 antibody positivity HP:0034085 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100. PMID:28749191 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. 2021-12-19T02:35:52Z human_phenotype HP:0034086 Anti-PM-Scl75 antibody positivity HP:0034086 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. PMID:28749191 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. 2021-12-19T02:36:40Z human_phenotype HP:0034087 Anti-U11/U12 RNP antibody positivity HP:0034087 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP. PMID:19565553 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. 2021-12-19T02:37:48Z human_phenotype HP:0034088 Anti-Ku antibody positivity HP:0034088 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. PMID:28749191 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. 2021-12-19T02:38:34Z human_phenotype HP:0034089 Anti-B23 antibody positivity HP:0034089 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23. PMID:30316987 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. 2021-12-19T02:39:33Z human_phenotype HP:0034090 Anti-RuvBL1/2 antibody positivity HP:0034090 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2. PMID:30316987 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. 2021-12-19T02:40:44Z Anti-PDGFR antibody positivity human_phenotype HP:0034091 Anti-platelet derived growth factor receptor HP:0034091 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor. PMID:28749191 https://orcid.org/0000-0002-3387-1836 Anti-PDGFR antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. 2021-12-19T02:42:01Z Anti-CCP antibody positivity human_phenotype HP:0034092 Anti-cyclic citrullinated peptide antibody positivity HP:0034092 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide. PMID:30316987 https://orcid.org/0000-0002-3387-1836 Anti-CCP antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. 2021-12-19T02:43:23Z Anti-Ro52 antibody positivity human_phenotype HP:0034093 Anti-Ro52/TRIM21 antibody positivity HP:0034093 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21. PMID:28749191 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. 2021-12-19T02:44:43Z Anti-AT1R antibody positivity human_phenotype HP:0034094 Anti-angiotensin receptor type-1 antibody positivity HP:0034094 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1. PMID:28749191 https://orcid.org/0000-0002-3387-1836 Anti-AT1R antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. 2021-12-19T02:46:17Z Anti-ETAR antibody positivity human_phenotype HP:0034095 Anti-endothelin-1 type A receptor antibody positivity HP:0034095 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor. PMID:28749191 https://orcid.org/0000-0002-3387-1836 Anti-ETAR antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. 2021-12-19T02:50:23Z human_phenotype HP:0034096 Anti-phosphatidic acid antibody positivity HP:0034096 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid. PMID:30868842 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. 2021-12-19T14:55:16Z human_phenotype HP:0034097 Anti-phosphatidyl choline antibody positivity HP:0034097 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline. PMID:31354742 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. 2021-12-19T14:56:23Z human_phenotype HP:0034098 Anti-phosphatidyl glycerol antibody positivity HP:0034098 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol. PMID:26563139 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. 2021-12-19T14:57:17Z human_phenotype HP:0034099 Anti-phosphatidyl inositol antibody positivity HP:0034099 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol. PMID:31354742 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. 2021-12-19T14:58:10Z human_phenotype HP:0034100 Anti-phosphatidyl serine antibody positivity HP:0034100 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine. PMID:26563139 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. 2021-12-19T14:59:07Z human_phenotype HP:0034101 Anti-annexin-V antibody positivity HP:0034101 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V. PMID:33464429 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. 2021-12-19T15:00:03Z human_phenotype HP:0034102 Anti-sphingolipid antibody positivity HP:0034102 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. PMID:31354742 https://orcid.org/0000-0002-3387-1836 Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury 2021-12-23T11:18:50Z Anti-ganglioside-monosialic acid antibody positivity human_phenotype HP:0034103 Anti-GM1 antibody positivity HP:0034103 Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury PMID:32460711 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. 2021-12-19T15:02:21Z human_phenotype HP:0034104 Anti-neutrophil elastase antibody positivity HP:0034104 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase. PMID:32091008 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. 2021-12-19T15:06:47Z Anti-TIF-1gamma antibody positivity Anti-TIF1-gamma antibody positivity human_phenotype HP:0034105 Anti-transcription intermediary factor-1gamma antibody positivity HP:0034105 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma. PMID:33876712 https://orcid.org/0000-0002-3387-1836 Anti-TIF-1gamma antibody positivity Anti-TIF1-gamma antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. 2021-12-19T15:08:15Z Anti-Ago2 antibody positivity Anti-Su antibody positivity human_phenotype HP:0034106 Anti-Su antigen/argonaute 2 antibody positivity HP:0034106 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2. PMID:33876712 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. 2021-12-19T15:09:34Z human_phenotype HP:0034107 Anti-p53 antibody positivity HP:0034107 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53. PMID:29554146 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. 2021-12-19T15:10:34Z Anti-YB 1 antibody positivity human_phenotype HP:0034108 Anti-Y-box protein-1 antibody positivity HP:0034108 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1. PMID:29554146 https://orcid.org/0000-0002-3387-1836 Anti-YB 1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. 2021-12-19T15:12:49Z human_phenotype HP:0034109 Anti-GW182 antibody positivity HP:0034109 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182. PMID:14598044 PMID:29554146 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. 2021-12-19T15:14:02Z Anti-Ge-1 antibody positivity human_phenotype HP:0034110 Anti-Gerbich phenotype 1 antibody positivity HP:0034110 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1. PMID:29554146 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. 2021-12-19T15:15:09Z human_phenotype HP:0034111 Anti-MIT3 antibody positivity HP:0034111 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3. PMID:29554146 PMID:32286240 https://orcid.org/0000-0002-3387-1836 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. 2021-12-23T11:22:13Z human_phenotype HP:0034112 Anti-GM1 IgG antibody positivity HP:0034112 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1. PMID:32460711 https://orcid.org/0000-0002-3387-1836 The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. HP:0030908 2021-12-19T15:18:27Z human_phenotype HP:0034113 This term was merged with HP:0030908 Liver kidney microsome type 1 antibody positivity, as it was a duplicate. obsolete Anti-type I liver-kidney microsomal antibody positivity true HP:0034113 The presence of type I liver-kidney microsomal autoantibodies (immunoglobulins) in the blood circulation. PMID:29554146 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. 2021-12-19T15:21:03Z Anti-HK-1 antibody positivity human_phenotype HP:0034114 Anti-hexokinase-1 antibody positivity HP:0034114 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1. PMID:29554146 https://orcid.org/0000-0002-3387-1836 Anti-HK-1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. 2021-12-19T15:22:34Z Anti-KLHL-12 antibody positivity human_phenotype HP:0034115 Anti-Kelch like protein 12 antibody positivity HP:0034115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12. PMID:29554146 https://orcid.org/0000-0002-3387-1836 Anti-KLHL-12 antibody positivity HP:0034189 2021-12-19T15:25:43Z human_phenotype HP:0034116 obsolete Anti-thyrotropin receptor antibody true HP:0034116 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. 2021-12-19T15:26:40Z Anti-ACE2 antibody positivity human_phenotype HP:0034117 Anti-angiotensin-converting enzyme 2 antibody positivity HP:0034117 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2. PMID:33910447 https://orcid.org/0000-0002-3387-1836 Anti-ACE2 antibody positivity The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. 2021-12-23T11:23:33Z human_phenotype HP:0034118 Anti-GM1 IgM antibody positivity HP:0034118 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1. PMID:34759020 https://orcid.org/0000-0002-3387-1836 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. 2021-12-23T11:27:18Z human_phenotype HP:0034119 Anti-GD1a IgG antibody positivity HP:0034119 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. PMID:24829594 https://orcid.org/0000-0002-3387-1836 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. 2021-12-23T11:41:10Z human_phenotype HP:0034120 Anti-GD1a IgM antibody positivity HP:0034120 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. PMID:31522790 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a. 2021-12-23T11:42:15Z human_phenotype HP:0034121 Anti-GD1a antibody positivity HP:0034121 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. 2021-12-23T11:43:47Z human_phenotype HP:0034122 Anti-GQ1b antibody positivity HP:0034122 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. 2021-12-23T11:44:38Z human_phenotype HP:0034123 Anti-GQ1b IgM antibody positivity HP:0034123 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. PMID:24829594 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. 2021-12-23T11:46:10Z human_phenotype HP:0034124 Anti-GD1b antibody positivity HP:0034124 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. PMID:31837178 https://orcid.org/0000-0002-3387-1836 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. 2021-12-23T11:47:11Z human_phenotype HP:0034125 Anti-GD1b IgM antibody positivity HP:0034125 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. PMID:31837178 https://orcid.org/0000-0002-3387-1836 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. 2021-12-23T11:48:28Z human_phenotype HP:0034126 Anti-GD1b IgG antibody positivity HP:0034126 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside. PMID:31837178 https://orcid.org/0000-0002-3387-1836 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. 2021-12-23T11:49:30Z human_phenotype HP:0034127 Anti-GQ1b IgG antibody positivity HP:0034127 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b. PMID:24829594 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. 2021-12-23T11:53:11Z human_phenotype HP:0034128 Anti-GT1a antibody positivity HP:0034128 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. 2021-12-23T11:53:39Z human_phenotype HP:0034129 Anti-GT1a IgM antibody positivity HP:0034129 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. PMID:24829594 https://orcid.org/0000-0002-3387-1836 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. 2021-12-23T11:54:57Z human_phenotype HP:0034130 Anti-GT1a IgG antibody positivity HP:0034130 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside. PMID:24829594 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. 2021-12-23T11:56:33Z human_phenotype HP:0034131 Anti-GT1b antibody positivity HP:0034131 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside. PMID:17785314 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. 2021-12-23T11:58:04Z human_phenotype HP:0034132 Anti-GM2 antibody positivity HP:0034132 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2. PMID:31522790 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. 2021-12-23T11:58:47Z human_phenotype HP:0034133 Anti-GM3 antibody positivity HP:0034133 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3. PMID:34174799 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. 2021-12-23T12:00:11Z human_phenotype HP:0034134 Anti-GM4 antibody positivity HP:0034134 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4. PMID:17785314 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. 2021-12-23T12:54:37Z Anti-NF155 antibody positivity human_phenotype HP:0034135 Anti-neurofascin-155 antibody positivity HP:0034135 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155. PMID:32266541 PMID:34728497 https://orcid.org/0000-0002-3387-1836 Anti-NF155 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. 2021-12-23T12:56:27Z Anti-NF186 antibody positivity human_phenotype HP:0034136 Anti-neurofascin 186 antibody positivity HP:0034136 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186. PMID:32266541 PMID:33723708 https://orcid.org/0000-0002-3387-1836 Anti-NF186 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. 2021-12-23T12:58:13Z Anti-CNTN1 antibody positivity human_phenotype HP:0034137 Anti-contactin-1 antibody positivity HP:0034137 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1. PMID:32266541 PMID:34675937 https://orcid.org/0000-0002-3387-1836 Anti-CNTN1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. 2021-12-23T13:00:48Z Anti-CASPR1 antibody positivity human_phenotype HP:0034138 Anti-contactin-associated protein 1 antibody positivity HP:0034138 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1. PMID:32266541 https://orcid.org/0000-0002-3387-1836 Anti-CASPR1 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. 2021-12-23T13:30:56Z Anti-SAE antibody positivity Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity human_phenotype HP:0034139 Anti-SUMO-activating enzyme antibody positivity HP:0034139 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE. PMID:33343724 https://orcid.org/0000-0002-3387-1836 Anti-SAE antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. 2021-12-23T13:33:06Z human_phenotype HP:0034140 Anti-SUMO-activating enzyme subunit 1 antibody positivity HP:0034140 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1. PMID:22884621 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. 2021-12-23T13:34:27Z Anti-SAE 2 antibody positivity human_phenotype HP:0034141 Anti-SUMO-activating enzyme subunit 2 antibody positivity HP:0034141 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2. PMID:22884621 https://orcid.org/0000-0002-3387-1836 Anti-SAE 2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. 2021-12-23T13:36:09Z Anti-MJ/NXP-2 antibody positivity Anti-NXP-2 antibody positivity human_phenotype HP:0034142 Anti-nuclear matrix protein-2 antibody positivity HP:0034142 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2. PMID:33343724 https://orcid.org/0000-0002-3387-1836 Anti-MJ/NXP-2 antibody positivity Anti-NXP-2 antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. 2021-12-23T13:39:49Z Anti-PL-7 antibody positivity human_phenotype HP:0034143 Anti-threonyl-tRNA synthetase antibody positivity HP:0034143 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase. PMID:22732951 PMID:33343724 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. 2021-12-23T13:47:12Z Anti-Ro60 antibody positivity human_phenotype HP:0034144 Anti-hY-RNA complex antibody positivity HP:0034144 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60. PMID:30915082 PMID:32083547 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. 2021-12-23T13:53:46Z Anti-PL-12 antibody positivity human_phenotype HP:0034145 Anti-alanyl-tRNA synthetase antibody positivity HP:0034145 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase. PMID:33343724 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. 2021-12-23T13:55:22Z Anti-EJ antibody positivity human_phenotype HP:0034146 Anti-glycyl tRNA-synthetase antibody positivity HP:0034146 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase. PMID:27212602 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. 2021-12-23T13:56:59Z human_phenotype HP:0034147 Antibodies reactive with aminoacyl-tRNA synthetases (ARS) can be detected in patients with polymyositis and dermatomyositis. Eight anti-ARS Abs have been described: anti-histidyl (anti-Jo-1), anti-threonyl (anti-PL-7), anti-alanyl (anti-PL-12), anti-glycyl (anti-EJ), anti-isoleucyl (anti-OJ), anti-asparaginyl (anti-KS), anti-phenylalanyl (anti-Zo), and anti-tyrosyl (anti-Ha) tRNAs. Anti-aminoacyl-tRNA synthetase antibody positivity HP:0034147 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme. PMID:23573256 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. 2021-12-23T13:59:53Z Anti-OJ antibody positivity human_phenotype HP:0034148 Anti-isoleucyl tRNA-synthetase antibody positivity HP:0034148 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase. PMID:33343724 https://orcid.org/0000-0002-3387-1836 Anti-OJ antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. 2021-12-23T14:02:04Z Anti-Zo alpha antibody positivity Anti-Zo antibody positivity Phenylanyl-t-RNA synthetase alpha antibody positivity human_phenotype HP:0034149 Anti-phenylalanyl tRNA synthetase antibody positivity HP:0034149 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase. PMID:31665469 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. 2021-12-23T14:03:53Z Anti-Ha antibody positivity human_phenotype HP:0034150 Anti-tyrosyl-tRNA synthetase antibody positivity HP:0034150 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase. PMID:32933078 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. 2021-12-23T14:05:11Z Anti-KS antibody positivity human_phenotype HP:0034151 Anti-asparaginyl-tRNA synthetase antibody positivity HP:0034151 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase. PMID:32933078 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. 2021-12-23T14:07:13Z HP:0033029 Anti-JO1 antibody positivity Anti-Jo-1 antibody positivity human_phenotype HP:0034152 Histidyl-tRNA synthetase (HRS = Jo-1) represents a key autoantibody target in the anti-synthetase syndrome that is marked by myositis as well as extra-muscular organ complications including interstitial lung disease (ILD). Anti-histidyl tRNA synthetase antibody positivity HP:0034152 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase. PMID:15804708 PMID:26210509 https://orcid.org/0000-0002-0104-692X https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). 2021-12-23T14:09:27Z Anti-cN1A antibody positivity human_phenotype HP:0034153 Anti-cytosolic-5-nucleotidase-1A antibody positivity HP:0034153 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A). PMID:32933078 https://orcid.org/0000-0002-3387-1836 Anti-cN1A antibody positivity The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. 2021-12-23T14:11:40Z human_phenotype HP:0034154 Anti-Ki antibody positivity HP:0034154 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki. PMID:24557777 https://orcid.org/0000-0002-3387-1836 The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. 2021-12-23T14:19:08Z human_phenotype HP:0034155 Anti-sp100 antibody positivity HP:0034155 The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins. PMID:32286240 PMID:33789734 Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. 2021-12-23T14:24:25Z Anti-beta2GPI IgG antibody positivity human_phenotype HP:0034156 Anti-beta-2-Glycoprotein I IgG antibody positivity HP:0034156 Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. PMID:33957795 PMID:34218350 https://orcid.org/0000-0002-3387-1836 Anti-beta2GPI IgG antibody positivity Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. 2021-12-23T14:26:33Z Anti-beta2GPI IgM antibody positivity human_phenotype HP:0034157 Anti-beta-2-Glycoprotein I IgM antibody positivity HP:0034157 Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. PMID:33957795 PMID:34218350 https://orcid.org/0000-0002-3387-1836 Anti-beta2GPI IgM antibody positivity The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. 2021-12-23T15:56:02Z Anti-PTPA antibody positivity human_phenotype HP:0034158 Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity HP:0034158 The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions. PMID:22966073 Anti-PTPA antibody positivity Paget's disease of bone (PDB) is a chronic progressive metabolic bone disease characterized by abnormal activation of osteoclasts that results in abnormal bone resorption and compensatory osteogenic sclerosis. DB can affect one (monostotic form) or more (polyostotic form) regions of the skeleton, with multiple constitutive symptoms, including bone pain, bone deformity, pathological fracture, tinnitus, hearing loss, vision loss, and osteoarthritis. 2022-02-19T11:36:51Z Osteitis deformans Paget bone lesion Paget disease of bone human_phenotype HP:0034159 Paget disease is a feature of several Mendelian diseases including Paget disease of bone 3 (OMIM:167250). Pagetic bone lesion HP:0034159 Paget's disease of bone (PDB) is a chronic progressive metabolic bone disease characterized by abnormal activation of osteoclasts that results in abnormal bone resorption and compensatory osteogenic sclerosis. DB can affect one (monostotic form) or more (polyostotic form) regions of the skeleton, with multiple constitutive symptoms, including bone pain, bone deformity, pathological fracture, tinnitus, hearing loss, vision loss, and osteoarthritis. PMID:33599011 Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation. 2022-02-19T11:37:53Z human_phenotype HP:0034160 Abnormal circulating interleukin 9 concentration HP:0034160 An abnormally decreased concentration of interleukin 9 in the blood circulation. 2022-02-19T11:38:25Z human_phenotype HP:0034161 Reduced circulating interleukin 9 concentration HP:0034161 Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation. 2022-02-19T11:38:54Z human_phenotype HP:0034162 Abnormal circulating interleukin 10 concentration HP:0034162 An abnormally decreased concentration of interleukin 10 in the blood circulation. 2022-02-19T11:39:26Z human_phenotype HP:0034163 Reduced circulating interleukin 10 concentration HP:0034163 Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation. 2022-02-19T11:39:51Z human_phenotype HP:0034164 Abnormal circulating interleukin 21 concentration HP:0034164 An abnormally decreased concentration of interleukin 21 in the blood circulation. 2022-02-19T11:40:16Z human_phenotype HP:0034165 Reduced circulating interleukin 21 concentration HP:0034165 An abnormally increased concentration of interleukin 21 in the blood circulation. 2022-02-19T11:40:39Z human_phenotype HP:0034166 Increased circulating interleukin 21 concentration HP:0034166 Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation. 2022-02-19T11:41:04Z human_phenotype HP:0034167 Abnormal circulating interleukin 22 concentration HP:0034167 An abnormally decreased concentration of interleukin 22 in the blood circulation. 2022-02-19T11:41:28Z human_phenotype HP:0034168 Reduced circulating interleukin 22 concentration HP:0034168 An abnormally increased concentration of interleukin 22 in the blood circulation. 2022-02-19T11:41:53Z human_phenotype HP:0034169 Increased circulating interleukin 22 concentration HP:0034169 Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation. 2022-02-19T11:42:21Z human_phenotype HP:0034170 Abnormal circulating interleukin 23 concentration HP:0034170 An abnormally decreased concentration of interleukin 23 in the blood circulation. 2022-02-19T11:42:44Z human_phenotype HP:0034171 Reduced circulating interleukin 23 concentration HP:0034171 An abnormally increased concentration of interleukin 23 in the blood circulation. 2022-02-19T11:43:08Z human_phenotype HP:0034172 Increased circulating interleukin 23 concentration HP:0034172 Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation. 2022-02-19T11:43:39Z human_phenotype HP:0034173 Abnormal circulating interleukin 27 concentration HP:0034173 An abnormally decreased concentration of interleukin 27 in the blood circulation. 2022-02-19T11:44:01Z human_phenotype HP:0034174 Reduced circulating interleukin 27 concentration HP:0034174 An abnormally increased concentration of interleukin 27 in the blood circulation. 2022-02-19T11:44:32Z human_phenotype HP:0034175 Increased circulating interleukin 27 concentration HP:0034175 Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation. 2022-02-19T11:45:00Z human_phenotype HP:0034176 Abnormal circulating interleukin 17A concentration HP:0034176 An abnormally decreased concentration of interleukin 17A in the blood circulation. 2022-02-19T11:45:26Z human_phenotype HP:0034177 Reduced circulating interleukin 17A concentration HP:0034177 An abnormally increased concentration of interleukin 17A in the blood circulation. 2022-02-19T11:45:49Z human_phenotype HP:0034178 Increased circulating interleukin 17A concentration HP:0034178 Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery . 2022-02-19T11:49:46Z human_phenotype HP:0034179 Vertebral artery aneurysm HP:0034179 Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule. 2022-02-19T12:29:42Z human_phenotype HP:0034180 The putamen, combined with the globus pallidus, forms the lentiform nucleus; and with the caudate nucleus, it shapes the striatum, which is a subcortical structure that forms the basal ganglia. Fusion of the caudate and putamen HP:0034180 Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule. PMID:26251641 PMID:31194327 Absence or underdevelopment of the liver. 2022-02-20T12:02:24Z human_phenotype HP:0034181 Aplasia/Hypoplasia of the liver HP:0034181 Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging. 2022-02-20T12:03:06Z human_phenotype HP:0034182 Segmental hypoplasia of liver HP:0034182 Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging. PMID:23573097 Spastic weakness found in both lower extremities and one upper extremity. 2022-02-20T12:44:35Z human_phenotype HP:0034183 Spastic triplegia HP:0034183 Spastic weakness found in both lower extremities and one upper extremity. PMID:27188686 PMID:32821558 https://orcid.org/0000-0002-6670-9157 The concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation is above the upper limit of normal. 2022-02-20T12:50:12Z Elevated circulating insulin-like growth factor-binding protein acid labile subunit concentration Elevated insulin-like growth factor-binding protein complex acid labile subunit concentration Elevated insulin-like growth factor-binding protein complex acid labile subunit level Elevated insulin-like growth factor-binding protein complex acid labile subunit level in blood Increased circulating IGFALS contration Increased insulin-like growth factor-binding protein complex acid labile subunit concentration Increased insulin-like growth factor-binding protein complex acid labile subunit level Increased insulin-like growth factor-binding protein complex acid labile subunit level in blood human_phenotype HP:0034184 Elevated circulating insulin-like growth factor-binding protein acid labile subunit concentration HP:0034184 Increased circulating IGFALS contration A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. 2022-02-20T13:00:41Z human_phenotype HP:0034185 See Figure 1 of PMID:25535458. Median pseudocleft lip HP:0034185 A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline. PMID:25535458 Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea. 2022-02-26T13:06:28Z human_phenotype HP:0034186 An abnormally high patella may therefore insufficiently engage the proximal trochlea groove both in extension and in the early phase of knee flexion - making it one of the potential risk factors for patellar instability. Accordingly, patella alta is present in 30% of patients with recurrent patellar dislocation. Patella alta HP:0034186 Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea. PMID:29309446 A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). 2022-03-09T20:08:20Z human_phenotype HP:0034187 Clavicular pseudarthrosis HP:0034187 A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint). PMID:19232556 Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach. 2022-03-09T20:11:00Z human_phenotype HP:0034188 Midline liver HP:0034188 Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach. PMID:12432114 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. 2022-03-09T20:41:35Z HP:0034116 Anti-TSH receptor antibody positivity Anti-thyrotropin receptor antibody TRAbs human_phenotype HP:0034189 Anti-thyroid-stimulating hormone receptor antibody positivity HP:0034189 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. PMID:10874533 PMID:26293122 PMID:3018097 PMID:30224035 PMID:32459722 https://orcid.org/0000-0002-3387-1836 Anti-TSH receptor antibody positivity TRAbs Abnormal functionality of the fetal cardiovascular system. 2022-03-12T23:26:42Z human_phenotype HP:0034190 Abnormal fetal cardiovascular physiology HP:0034190 Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. 2022-03-12T23:26:48Z human_phenotype HP:0034191 The technique for MCA peak systolic velocity measurement involves an axial section through the fetal head that includes the thalami and cavum septum pellucidum is obtained and the circle of Willis visualized with color or power Doppler. The MCA is examined close to its origin from the internal carotid artery. The sample volume should be placed in the center of the vessel and the angle between the ultrasound beam and the direction of blood flow kept as close to 0 degrees as possible. Angle correction can be used if required. The highest peak systolic waveform is measured, in the absence of fetal breathing movements. An elevated MCA Doppler measurement indicates that the fetus is likely to be anemic, but this measurement is not perfectly sensitive or specific. Elevated fetal middle cerebral artery peak systolic velocity HP:0034191 Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound. PMID:28191060 https://orcid.org/0000-0002-8593-2186 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. 2022-03-16T14:05:15Z human_phenotype HP:0034192 Pulmonary embolism (PE) is the most dangerous form of venous thromboembolism, and undiagnosed or untreated PE can be fatal. Acute PE is associated with right ventricular dysfunction, which can lead to arrhythmia, haemodynamic collapse and shock. Furthermore, individuals who survive PE can develop post-PE syndrome, which is characterized by chronic thrombotic remains in the pulmonary arteries, persistent right ventricular dysfunction, decreased quality of life and/or chronic functional limitations. Pulmonary thromboembolism HP:0034192 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung. PMID:29770793 Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis. 2022-03-16T14:18:29Z Blistering with cleavage within basal keratinocytes Cleavage within the basal keratinocyte layer human_phenotype HP:0034193 Cleavage in epidermolysis bullosa simplex occurs within the basal keratinocytes. Stratum basale cleavage HP:0034193 Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells. 2022-03-16T14:20:08Z Blistering with suprabasal clefting human_phenotype HP:0034194 Suprabasal cleavage HP:0034194 Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium. 2022-04-07T13:21:22Z human_phenotype HP:0034195 Triggered by muscle relaxant HP:0034195 A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation). 2022-04-07T14:12:24Z Agenesis of the ductus venosus human_phenotype HP:0034196 The ductus venosus (DV) plays an essential role in the fetal circulation because it allows the oxygenated placental blood to bypass the liver and enables preferential flow via the right atrium and foramen ovale to the left atrium. Furthermore, normal umbilical flow via DV is involved in the normal development of the intrahepatic portal venous system. The lack of critical anastomoses between the portal and umbilical venous system and hepatic-systemic venous system results in agenesis of ductus venosus and shunting of umbilical blood through an aberrant vessel. Between 1 in 2532 to 1 in 556 fetuses are affected. Ductus venosus agenesis HP:0034196 A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation). PMID:10765517 PMID:21335936 PMID:24871613 PMID:24931552 This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. 2022-04-07T15:49:34Z human_phenotype HP:0034197 Third trimester onset HP:0034197 This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). 2022-04-07T16:11:04Z human_phenotype HP:0034198 Second trimester onset HP:0034198 This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). 2022-04-07T16:13:41Z Early fetal onset Early foetal onset human_phenotype HP:0034199 Late first trimester onset HP:0034199 Early foetal onset Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. 2022-04-10T10:30:43Z human_phenotype HP:0034200 Abnormal CSF homovanillic acid concentration HP:0034200 Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. 2022-04-10T10:31:36Z human_phenotype HP:0034201 Increased CSF homovanillic acid concentration HP:0034201 2022-04-10T10:45:55Z human_phenotype HP:0034202 Abnormal iduronate sulfatase concentration HP:0034202 An decreased level of iduronate-2-sulfatase activity in the blood circulation. 2022-04-10T10:46:34Z human_phenotype HP:0034203 Decreased iduronate sulfatase level HP:0034203 Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. 2022-04-10T10:49:34Z human_phenotype HP:0034204 C1-esterase inhibitor (C1INH) is an acute phase reactant and a serine protease inhibitor (serpin). Serpins inhibit the steps in the lectin complement pathway as well as kinin-producing pathways. While C1 inhibitor has many functions, its function in the kinin pathway leads to angioedema ctivated factor XII of the coagulation cascade and kallikrein catalyze the cleavage of kininogen, which produces bradykinin. C1 inhibitor usually limits this bradykinin production by inhibiting kallikrein and factor XIIa. Bradykinin is a potent vasodilator due to multifactorial downstream effects on the smooth muscle in blood vessels. Decreased circulating C1-esterase inhibitor concentration HP:0034204 Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. PMID:30844193 Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion. 2022-04-10T10:56:20Z human_phenotype HP:0034205 Iniencephaly HP:0034205 Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion. PMID:33294089 An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-04-10T11:09:50Z Abnormal fetal CNS morphology Abnormal foetal CNS morphology human_phenotype HP:0034206 Abnormal fetal central nervous system morphology HP:0034206 Abnormal fetal CNS morphology Abnormal foetal CNS morphology An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-04-10T11:11:27Z human_phenotype HP:0034207 Abnormal fetal gastrointestinal system morphology HP:0034207 Abnormal bleeding inside the skull (cranium) of a fetus. 2022-04-10T11:12:07Z human_phenotype HP:0034208 Fetal intracranial hemorrhage occurs when a blood vessel within or adjacent to the brain ruptures or leaks, resulting in bleeding into the brain or surrounding area. Fetal intracranial hemorrhage can result in disruption of blood flow to the developing brain (ischemia). Addditionally, accumulation of blood can compress brain tissue. Fetal intracranial hemorrhage HP:0034208 A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch. 2022-04-10T11:31:49Z Grade I fetal intracranial hemorrhage Grade I foetal intracranial haemorrhage human_phenotype HP:0034209 Subependymal hemorrhage originates from the germinal matrix and appears on sonography as echogenic material located below the frontal horns in the floor of the lateral ventricle within the caudothalamic notch. Acute hemorrhage appears sonographically as echogenic and homogeneous; the hemorrhage changes over time to a more complex appearance with an echogenic external lining and internal sonolucent center and then eventually becomes cystic in nature. Fetal subependymal hemorrhage HP:0034209 Grade I foetal intracranial haemorrhage A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain. 2022-04-10T11:39:43Z human_phenotype HP:0034210 The evolution of the ultrasonographic pattern of intraventricular hemorrhage (IVH) is that fresh blood clots appear as homogeneously echogenic areas, separate from the choroid plexus. Over the course of several weeks some blood clots develop a complex appearance, with an external echogenic lining and an internal sonolucent core. Fetal intraventricular hemorrhage HP:0034210 A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain. PMID:16082722 PMID:27734711 A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain. 2022-04-10T12:03:10Z human_phenotype HP:0034211 Fetal cerebral parenchymal hemorrhage HP:0034211 A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain. PMID:16082722 A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space). 2022-04-10T12:07:17Z human_phenotype HP:0034212 Fetal extra-axial hemorrhage HP:0034212 A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum. 2022-04-10T12:12:30Z human_phenotype HP:0034213 Fetal posterior fossa hemorrhage HP:0034213 A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium. 2022-04-10T12:15:09Z Grade II fetal intracranial hemorrhage Grade II foetal intracranial haemorrhage human_phenotype HP:0034214 Fetal intraventricular hemorrhage without ventriculomegaly HP:0034214 A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium. PMID:16082722 Grade II foetal intracranial haemorrhage A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum. 2022-04-10T12:17:09Z human_phenotype HP:0034215 Fetal cerebellar hemisphere hemorrhage HP:0034215 A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum. PMID:12795563 PMID:26426778 A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum. 2022-04-10T12:20:40Z human_phenotype HP:0034216 Fetal cerebellar vermis hemorrhage HP:0034216 A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum. PMID:26426778 Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation. 2022-04-10T12:22:02Z human_phenotype HP:0034217 Sonographic non-visualized fetal bladder HP:0034217 Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation. PMID:8915088 A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography. 2022-04-10T12:23:06Z Grade III fetal intracranial hemorrhage Grade III foetal intracranial haemorrhage human_phenotype HP:0034218 Fetal intraventricular hemorrhage with ventriculomegaly HP:0034218 Grade III foetal intracranial haemorrhage A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma. 2022-04-10T12:32:52Z Grade IV fetal intracranial hemorrhage Grade IV foetal intracranial haemorrhage human_phenotype HP:0034219 Fetal intraventricular hemorrhage with periventricular hemorrhage HP:0034219 A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma. PMID:12905503 Grade IV foetal intracranial haemorrhage Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. 2022-04-10T13:08:45Z human_phenotype HP:0034220 Temporal lobe megalencephaly HP:0034220 Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. PMID:19098178 https://orcid.org/0000-0001-8612-1062 An abnormal structural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres. 2022-04-10T13:13:34Z human_phenotype HP:0034221 Abnormal temporal lobe morphology HP:0034221 A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. 2022-04-10T13:16:55Z human_phenotype HP:0034222 Temporal lobe dysplasia HP:0034222 A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations. PMID:24585534 https://orcid.org/0000-0001-8612-1062 Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth. 2022-04-10T13:39:18Z Elevated umbilical artery Dopplers Increased umbilical artery pulsatility index human_phenotype HP:0034223 Elevated umbilical artery pulsatility HP:0034223 Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth. PMID:32746120 An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole. 2022-04-10T13:42:38Z human_phenotype HP:0034224 Abnormal umbilical artery Doppler velocimetry is correlated with a pathologic lesion of the placenta characterized by obliteration of arterioles in the tertiary stem villi; the umbilical artery flow velocity waveform is primarily determined by placental villous vascular architecture. The increased placental vascular resistance is reflected as a decreased diastolic phase of the umbilical artery waveform Absent end-diastolic umbilical artery flow HP:0034224 Abnormal umbilical artery Doppler velocimetry is correlated with a pathologic lesion of the placenta characterized by obliteration of arterioles in the tertiary stem villi; the umbilical artery flow velocity waveform is primarily determined by placental villous vascular architecture. The increased placental vascular resistance is reflected as a decreased diastolic phase of the umbilical artery waveform PMID:19797010 An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow). 2022-04-10T13:46:23Z human_phenotype HP:0034225 Reversed end-diastolic umbilical artery flow HP:0034225 An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow). PMID:19797010 Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. 2022-04-10T13:51:49Z human_phenotype HP:0034226 See Figure 4E of PMID:31173381 and Figure 1B of PMID:23408600. Champagne cork sign HP:0034226 Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding. PMID:23408600 PMID:31173381 https://orcid.org/0000-0001-8612-1062 A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta. 2022-04-10T14:00:54Z human_phenotype HP:0034227 Aortic isthmus hypoplasia HP:0034227 A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta. PMID:27860551 A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta. 2022-04-10T14:03:00Z human_phenotype HP:0034228 Proximal aortic arch hypoplasia HP:0034228 A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta. PMID:27860551 A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta. 2022-04-10T14:04:25Z human_phenotype HP:0034229 Distal aortic arch hypoplasia HP:0034229 A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). 2022-04-10T14:14:09Z Type A cross fused renal ectopia human_phenotype HP:0034230 Inferior crossed fused renal ectopia HP:0034230 A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position). PMID:29446682 A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. 2022-04-10T14:17:46Z S-shaped kidney Type B cross fused renal ectopia human_phenotype HP:0034231 See Figure 2b of PMID:23599575. Sigmoid kidney HP:0034231 A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation. PMID:23599575 PMID:29446682 A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. 2022-04-10T14:23:48Z Type C cross fused renal ectopia human_phenotype HP:0034232 Unilateral lump kidney HP:0034232 A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly. PMID:29446682 A type of cross fused renal ectopia in which kidneys fuse along their medial borders. 2022-04-10T14:26:06Z Type D cross fused renal ectopia human_phenotype HP:0034233 Disc kidney HP:0034233 A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. 2022-04-10T14:28:15Z Tandem kidney Type E cross fused renal ectopia human_phenotype HP:0034234 L-shaped kidney HP:0034234 A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney. PMID:29446682 A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. 2022-04-10T14:29:53Z human_phenotype HP:0034235 Superior crossed-fused renal ectopia HP:0034235 A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly. PMID:29446682 Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation. 2022-04-10T14:32:00Z AOP human_phenotype HP:0034236 Apnea of prematurity HP:0034236 Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation. PMID:21301866 https://orcid.org/0000-0002-6670-9157 AOP A type of neural tube defect that is not covered by skin. 2022-04-10T17:29:17Z human_phenotype HP:0034237 Open neural tube defect HP:0034237 A type of neural tube defect that is not covered by skin. PMID:23456749 A type of neural tube defect that is covered by skin. 2022-04-10T17:33:10Z human_phenotype HP:0034238 Closed neural tube defect HP:0034238 A type of neural tube defect that is covered by skin. PMID:23456749 The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. 2022-04-10T17:38:05Z human_phenotype HP:0034239 Diagnosis can be made by magnetic resonance angiography, Doppler ultrasonography, or computed tomography angiography. Renal vein thrombosis HP:0034239 The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output. PMID:30725656 An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more. 2022-04-10T17:41:01Z human_phenotype HP:0034240 Fetal neck mass HP:0034240 An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more. PMID:30422714 Death of a fetus in the uterus. 2022-04-10T17:51:32Z Death before birth Intrauterine death human_phenotype HP:0034241 Prenatal death HP:0034241 Death before birth An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-04-10T18:07:18Z human_phenotype HP:0034242 Abnormal fetal genitourinary system morphology HP:0034242 An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. 2022-04-10T18:08:28Z human_phenotype HP:0034243 Abnormal fetal pulmonary morphology HP:0034243 At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass. 2022-04-10T18:56:11Z human_phenotype HP:0034244 The origin of echogenic masses within the gastric lumen is incompletely understood. As they are seen in multiple planes, technical issues are unlikely. They may be due to swallowed cells that aggregate because of the relatively poor peristaltic activity in the stomach early in the second trimester. When intraamniotic bleeding has occurred, these pseudomasses are commonly visualized. They inevitably disappear during follow-up examinations and are not associated with an adverse neonatal outcome. Gastric pseudomass HP:0034244 At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass. PMID:15888614 2022-04-10T18:58:58Z human_phenotype HP:0034245 A structural anomaly in the fetal head region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes. Fetal head anomaly HP:0034245 An abnormal growth (lump) of tissue that projects from the fetal scalp. 2022-04-10T18:59:55Z human_phenotype HP:0034246 Fetal scalp mass HP:0034246 An abnormal growth (lump) of tissue that projects from the fetal scalp. PMID:24767653 An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis. 2022-04-10T19:18:17Z human_phenotype HP:0034247 Fetal lower urinary tract obstruction HP:0034247 An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis. PMID:35136187 Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus. 2022-04-10T19:22:53Z human_phenotype HP:0034248 Both the normal fetal lens and vitreous appear hypoechoic by ultrasound. On endovaginal ultrasound, the fetal lens may be visualized as early as 14 weeks of gestational age. The outline of the lens may be visible as a thin, echogenic line in the anterior aspect of the globe; however, the lens may be difficult to see depending on the angle of the insonation beam relative to the lens position. Increased echogenicity of the fetal lens can be observed with some forms of developmental cataract. Increased fetal lens echogenicity HP:0034248 Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus. PMID:27433255 An unusually severe infection by an influenza virus. 2022-04-12T22:52:05Z Severe influenza human_phenotype HP:0034249 Severe influenza infection HP:0034249 An unusually severe infection by an influenza virus. PMID:25814066 Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. 2022-04-12T22:57:01Z human_phenotype HP:0034250 In the fetus fluid collects behind the neck, much like it does in dependent ankle edema in later life. This occurs partly because of the tendency for the fetus to lie on its back and partly because of the laxity of the skin of the neck. As with ankle edema this accumulation of fluid can represent the end point of several pathological processes, including heart failure. Fluid collecting behind the neck can be detected as nuchal translucency by ultrasound scanning, and it can be measured. The more fluid that has accumulated, the greater the risk of an abnormality being present. Fetal nuchal edema HP:0034250 Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis. PMID:16507941 PMID:9880279 An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. 2022-04-23T11:42:49Z human_phenotype HP:0034251 The corneal reflex can be tested by touching the cornea lightly with a cotton tip. The normal response to to blink (shut the eyelids) immediately. To evaluate the corneal reflex, the examiner uses a cotton-tipped applicator, the tip of which has been pulled into a thin strand. The examiner stabilizes the patient's head by placing a hand on the patient's eyebrow and head. The patient is asked to look to the left side as the cotton tip is brought in from the right side to touch the right cornea gently. Abnormal corneal reflex HP:0034251 An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea. PMID:30480980 Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. 2022-04-23T11:43:34Z human_phenotype HP:0034252 Absent corneal reflex HP:0034252 Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. PMID:30480980 An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes. 2022-04-23T11:47:20Z human_phenotype HP:0034253 Eosinophil nuclear hypersegmentation HP:0034253 An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes. PMID:10732836 PMID:25313414 The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda. 2022-05-07T14:24:47Z Midbrain panda sign human_phenotype HP:0034254 See Figure b of PMID:14557570. Face of the giant panda sign HP:0034254 The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda. PMID:14557570 An aberrant, pathological communication between the colon and the bladder. 2022-05-07T14:27:23Z Colovesicular fistula Vesicocolic fistula human_phenotype HP:0034255 The most common cause of colovesicular fistulas is the sequelae of complicated diverticulitis and accounts for over two-thirds of cases. The second most common cause is a malignancy in 10% to 20% of cases and is usually adenocarcinoma of the colon. Crohn's colitis is the third most common cause (5% to 7% of cases) and usually is a result of long-standing disease. Colovesical fistula HP:0034255 An aberrant, pathological communication between the colon and the bladder. PMID:30085532 Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. 2022-05-11T12:26:02Z human_phenotype HP:0034256 Absent dermoepidermal hemidesmosomes HP:0034256 Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. PMID:19945618 The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement. 2022-05-11T12:59:58Z human_phenotype HP:0034257 C4 nephritic factor positivity HP:0034257 The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement. PMID:23117396 PMID:27146825 PMID:28838767 https://orcid.org/0000-0002-3387-1836 Absence or underdevelopment of the midbrain (mesencephalon). 2022-05-21T15:34:06Z Aplasia/Hypoplasia of the mesencephalon human_phenotype HP:0034258 Aplasia/Hypoplasia of the midbrain HP:0034258 A developmental defect characterized by underdevelopment of the mesencephalon. 2022-05-21T15:34:46Z Hypoplasia of the mesencephalon Hypoplastic mesencephalon human_phenotype HP:0034259 Hypoplasia of the midbrain HP:0034259 A developmental defect characterized by underdevelopment of the mesencephalon. PMID:25561519 Developmental defect characterized by the absence of the zygomatic arch. 2022-05-21T15:43:10Z human_phenotype HP:0034260 Aplastic zygomatic arch HP:0034260 Developmental defect characterized by the absence of the zygomatic arch. PMID:26119818 A developmental defect characterized by absence or underdevelopment of one or more facial bone. 2022-05-21T15:47:04Z human_phenotype HP:0034261 Aplasia/Hypoplasia of facial bones HP:0034261 Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. 2022-05-21T15:48:33Z human_phenotype HP:0034262 Lanugo arises about three months into development and plays an essential role in binding the vernix caseosa to the skin of fetuses. Absent lanugo HP:0034262 Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. PMID:26119818 PMID:30252348 Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal. 2022-05-21T15:50:31Z human_phenotype HP:0034263 Abnormal vaginal bleeding HP:0034263 Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal. PMID:21250125 Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle. 2022-05-21T15:51:50Z Bleeding after sex human_phenotype HP:0034264 Postcoital vaginal bleeding HP:0034264 Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle. PMID:25045355 Pain in the breast. 2022-05-21T15:55:15Z Breast pain Painful breast human_phenotype HP:0034265 Mastalgia HP:0034265 Pain in the breast. PMID:16533457 Breast pain Painful breast Bleeding during sex. 2022-05-21T15:57:25Z human_phenotype HP:0034266 Vaginal bleeding during sex HP:0034266 Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones. 2022-05-21T15:58:13Z Pain in the pelvis human_phenotype HP:0034267 Pelvic pain HP:0034267 Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones. PMID:32119472 Any anomaly of vagina function. 2022-05-21T16:01:58Z human_phenotype HP:0034268 Abnormal vaginal physiology HP:0034268 Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina 2022-05-21T16:04:22Z human_phenotype HP:0034269 Abnormal vaginal discharge HP:0034269 Incisor teeth with irregular edges said to resemble a saw. 2022-05-21T16:09:05Z Jagged incisors human_phenotype HP:0034270 Serrated incisors HP:0034270 Incisor teeth with irregular edges said to resemble a saw. PMID:25439729 https://orcid.org/0000-0003-3475-564X Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper. 2022-05-21T16:17:51Z human_phenotype HP:0034271 Copper beaten skull HP:0034271 Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper. PMID:31466955 Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. 2022-05-21T16:20:03Z human_phenotype HP:0034272 Fundus autofluorescence utilizes a scanning laser ophthalmoscope to stimulate intrinsically autofluorescent molecules of lipofuscin to visualize the retinal pigment epithelium. Perifoveal hypoautofluorescence HP:0034272 Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea. PMID:34800980 Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. 2022-05-22T12:50:39Z Premature facial sagging human_phenotype HP:0034273 Premature sagging cheeks HP:0034273 Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation. PMID:19338976 A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. 2022-05-22T14:16:09Z human_phenotype HP:0034274 Gastrointestinal ulcers result from the tissue necrosis triggered by mucosal ischemia, ree radical formation and cessation of nutrient delivery, all caused by vascular and microvascular injury such as thrombi, constriction, or other occlusion. Gastrointestinal ulcer HP:0034274 A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae. PMID:16184417 A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life. 2022-05-22T14:21:57Z human_phenotype HP:0034275 Verrucous epidermal nevus HP:0034275 A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life. PMID:24364998 Concentration of thymidine in the blood circulation above the normal range. 2022-05-28T21:37:32Z Increased serum thymidine human_phenotype HP:0034276 Elevated circulating thymidine concentration HP:0034276 Concentration of 2-deoxyuridine in the blood circulation is above the normal range. 2022-05-28T21:43:40Z human_phenotype HP:0034277 Elevated circulating deoxyuridine concentration HP:0034277 Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. 2022-05-28T21:45:14Z Bone marrow: multinucleated erythroblasts Multinucleate erythroblast human_phenotype Binucleated erythroblast Double-nucleated erythroblast HP:0034278 Multinucleated erythroblast HP:0034278 Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. PMID:11994986 PMID:23744492 The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals. 2022-05-28T21:54:01Z 2,8-dihydroxyadenine urinary crystals human_phenotype HP:0034279 2,8-dihydroxyadenine crystalluria HP:0034279 Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. 2022-05-28T21:56:05Z Codocytes human_phenotype HP:0034280 Target cells HP:0034280 Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. PMID:27372866 PMID:32965812 Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. 2022-05-28T22:15:56Z Cone-shaped epiphyses of phalanges Cone-shaped phalangeal epiphyses human_phenotype HP:0034281 Phalangeal cone-shaped epiphyses HP:0034281 Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. PMID:22503633 Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. 2022-06-04T14:41:40Z human_phenotype HP:0034282 See the Figure in PMID:29059381. Subcutaneous ossification HP:0034282 Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation. PMID:29059381 Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces. 2022-06-04T14:44:17Z human_phenotype HP:0034283 Increased fecal protoporphyrin concentration HP:0034283 Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces. PMID:8852667 Increased susceptibility to gingivitis, as manifested by recurrent or chronic episodes of infections or inflammations of the gums (gingival tissue) that are unusual in frequency or severity for a healthy individual of the same age. 2022-06-04T14:47:14Z Chronic gingivitis Persistent gingivitis human_phenotype HP:0034284 Recurrent gingivitis HP:0034284 Increased susceptibility to gingivitis, as manifested by recurrent or chronic episodes of infections or inflammations of the gums (gingival tissue) that are unusual in frequency or severity for a healthy individual of the same age. PMID:39274292 PMID:39412215 Inflammation of the brain related to infection by an enterovirus. 2022-06-04T14:49:07Z human_phenotype HP:0034285 Enteroviral encephalitis HP:0034285 HP:0020102 2022-06-04T14:51:17Z human_phenotype HP:0034286 obsolete Pneumocystis carinii pneumonia true HP:0034286 Lack of detectable fibrinogen in the blood circulation. 2022-06-04T14:53:02Z human_phenotype HP:0034287 Afibrinogenemia HP:0034287 Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is above the upper limit of normal. 2022-06-26T21:04:45Z Elevated circulating reverse triiodothyronine concentration Elevated rT3 human_phenotype HP:0034288 Reverse T3 is the third most abundant iodothyronine circulating in human blood and is produced by the inner ring deiodination of the pro-hormone thyroxine (T4). The number 4 in T4 means it has 4 iodine atoms. It can lose 1 of them, yielding either T3 or reverse T3, depending on which iodine atom it loses. Loss of iodine from the five-prime position on its outer ring yields T3, the most potent thyroid hormone. On the other hand, when T4 loses an iodine atom from the five position on its inner ring it yields reverse T3. Reverse T3 is inactive. Elevated circulating reverse T3 concentration HP:0034288 Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is above the upper limit of normal. PMID:29883303 Elevated rT3 An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation. 2022-06-26T21:08:42Z human_phenotype HP:0034289 Elevated circulating rT3/T3 ratio HP:0034289 An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation. PMID:29883303 Concentration of tiglylglycine in the blood circulation above the upper limit of normal. 2022-07-03T13:57:59Z human_phenotype HP:0034290 Elevated circulating tiglylglycine concentration HP:0034290 Concentration of tiglylglycine in the blood circulation above the upper limit of normal. PMID:12696021 An elevation above the normal range of creatine in the blood circulation. 2022-06-26T21:42:02Z human_phenotype HP:0034291 Elevated circulating creatine concentration HP:0034291 An elevation above the normal range of creatine in the blood circulation. PMID:11326334 An reduction below the normal range of creatine in the blood circulation. 2022-06-26T21:43:00Z human_phenotype HP:0034292 Reduced circulating creatine concentration HP:0034292 The presence of calcium deposition within the temporal lobe of the brain. 2022-06-26T21:44:42Z human_phenotype HP:0034293 Temporal lobe calcification HP:0034293 The presence of calcium deposition within the temporal lobe of the brain. PMID:20027545 Bile thrombi that form an obstruction (plug) in a dilated bile duct. 2022-06-26T21:48:28Z human_phenotype HP:0034294 Ductal bile plugs HP:0034294 Bile thrombi that form an obstruction (plug) in a dilated bile duct. PMID:2028872 PMID:22152905 An abnormally low volume of the white matter of the brain. 2022-07-03T14:04:01Z human_phenotype White matter loss HP:0034295 This feature can be ascertained by modalities including segmented volumetric magnetic resonance imaging. Reduced white matter volume may manifest as sulcal deepening and widening, enlarged ventricles, and an increased ratio of cerebrospinal fluid to gray and white matter. Reduced cerebral white matter volume HP:0034295 Detection of 3,5,6-trichloro-2-pyridinol in the urine. 2022-07-03T14:10:51Z human_phenotype HP:0034296 3,5,6-trichloro-2-pyridinol is a metabolite produced following exposure to chlorpyrifos, an organophosphate insecticide. Elevated urine 3,5,6-trichloro-2-pyridinol level HP:0034296 Detection of 3,5,6-trichloro-2-pyridinol in the urine. PMID:15367928 The concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation is above the upper limit of normal. 2022-07-03T14:21:31Z Elevated circulating tetracosanoic acid concentration Elevated tetracosanoic acid concentration Elevated tetracosanoic acid level Elevated tetracosanoic acid level in blood Increased tetracosanoic acid concentration Increased tetracosanoic acid level Increased tetracosanoic acid level in blood human_phenotype HP:0034297 Elevated circulating tetracosanoic acid concentration HP:0034297 The concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation is above the upper limit of normal. 2022-07-03T14:22:13Z Elevated circulating cerotic acid concentration Elevated circulating hexacosanoic acid concentration Elevated hexacosanoic acid concentration Elevated hexacosanoic acid level Elevated hexacosanoic acid level in blood Increased hexacosanoic acid concentration Increased hexacosanoic acid level Increased hexacosanoic acid level in blood human_phenotype HP:0034298 Elevated circulating hexacosanoic acid concentration HP:0034298 A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. 2022-07-03T14:24:46Z human_phenotype HP:0034299 Sertoli cells are found in the convoluted seminiferous tubules and form part of the blood-testis barrier in males. With Sertoli cell-only phenotype, spermatogenic cells, which are normally located in between the Seroli cells, are absent. Sertoli cell-only phenotype HP:0034299 A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis. PMID:30484998 Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation. 2022-07-03T14:30:56Z human_phenotype HP:0034300 Decreased acid sphingomyelinase activity HP:0034300 A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract. 2022-07-03T14:33:35Z human_phenotype HP:0034301 Congenital pouch colon HP:0034301 A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract. PMID:28413299 A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. 2022-07-03T14:38:18Z human_phenotype HP:0034302 Megalopapilla HP:0034302 A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects. PMID:31926369 A bifid T-wave with a notch duration between the 2 peaks at least 0.04 sec and an amplitude at least 0.05 mV. 2022-07-10T12:28:01Z Notched T-wave human_phenotype HP:0034303 Notched T wave HP:0034303 A bifid T-wave with a notch duration between the 2 peaks at least 0.04 sec and an amplitude at least 0.05 mV. PMID:29699857 An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave. 2022-07-10T12:29:51Z human_phenotype HP:0034304 In arrhythmogenic cardiomyopathy, the epsilon wave is found in the right precordial leads, where the QRS complex is broader than in the left precordial leads with a difference of at least 25 milliseconds. Epsilon wave HP:0034304 An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave. PMID:30796961 A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex. 2022-07-10T12:32:31Z 2:1 AV block human_phenotype HP:0034305 2:1 atrioventricular block HP:0034305 A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex. PMID:23388215 2:1 AV block An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat. 2022-07-10T12:36:46Z human_phenotype HP:0034306 Ventricular bigeminy HP:0034306 An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat. PMID:19043599 The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. 2022-07-10T13:09:24Z human_phenotype HP:0034307 Elevated left ventricular end-diastolic diameter HP:0034307 The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae. PMID:25525505 Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction. 2022-08-07T12:58:15Z human_phenotype HP:0034308 Prolonged P wave duration has been associated with atrial fibrillation and with increased all-cause, cardiovascular disease and stroke mortality. Various cut off values have been suggested for prolonged P wave duration, generally between 110 ms or 120 ms. Prolonged P wave HP:0034308 Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction. PMID:25425321 Spermatozoa with multiple flagella attached to the sperm head. 2022-08-07T13:31:01Z Multi-tailed spermatozoa human_phenotype HP:0034309 Multiflagellar spermatozoa HP:0034309 Spermatozoa with multiple flagella attached to the sperm head. PMID:21733974 Infection with the yellow fever virus of the live-attenuated vaccine. 2022-08-07T13:33:06Z Postvaccination yellow fever human_phenotype HP:0034310 Post-vaccination yellow fever HP:0034310 Infection with the yellow fever virus of the live-attenuated vaccine. PMID:31270247 Developmental defect characterized by undergrowth of the optic chiasm. 2022-08-07T13:35:07Z Optic chiasm hypoplasia human_phenotype HP:0034311 Hypoplastic optic chiasm HP:0034311 Developmental defect characterized by undergrowth of the optic chiasm. PMID:23312594 PMID:23591992 Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent. 2022-08-13T14:35:04Z Sleep hypoxemia Sleep-related hypoxemia human_phenotype HP:0034312 Nocturnal hypoxemia HP:0034312 Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent. PMID:34630163 An abnormally increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent. 2022-08-13T14:39:25Z human_phenotype HP:0034313 Hyperdynamic left ventricular ejection fraction HP:0034313 An abnormally increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent. PMID:26250903 PMID:29083812 Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent. 2022-08-13T14:40:46Z human_phenotype HP:0034314 Abnormal left ventricular ejection fraction HP:0034314 Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent. PMID:29083812 A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children. 2022-08-13T15:01:17Z human_phenotype HP:0034315 Chronic cough HP:0034315 A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children. PMID:29094873 Reduced volume of pars compacta of the substantia nigra. 2022-08-14T10:22:53Z human_phenotype HP:0034316 Parkinson's disease is a neurodegenerative disorder characterized by progressive loss of dopaminergic neurons in the substantia nigra pars compacta. Thinning of the substantia nigra pars compacta HP:0034316 Reduced volume of pars compacta of the substantia nigra. PMID:26209139 Increased susceptibility to viral infections as manifested by recurrent or severe/invasive viral infection, or by viral infection occurring in an unusual anatomical location. 2022-08-14T11:58:03Z human_phenotype HP:0034317 An unusual virus infection that is regarded as a sign of a pathological susceptibility to infection by a virus. Unusual viral infection HP:0034317 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host. 2022-08-14T12:00:00Z human_phenotype HP:0034318 Unusual virus reactivation HP:0034318 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host. PMID:21799704 A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries. 2022-08-14T12:07:28Z human_phenotype HP:0034319 CNS vasculitis with reactivation of varicella-zoster virus HP:0034319 A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries. PMID:30400213 Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain. 2022-08-17T14:26:42Z Intracytoplasmic myofiber reducing inclusion bodies human_phenotype HP:0034320 See Figure 1 of PMID:18274675. Muscle fiber intracytoplasmic reducing inclusion bodies HP:0034320 Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain. PMID:18274675 Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal. 2022-08-17T14:30:26Z Increased circulating guanidinoacetic acid concentration human_phenotype HP:0034321 Elevated circulating guanidinoacetic acid concentration HP:0034321 Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal. PMID:15651030 Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2022-08-17T14:32:00Z Reduced circulating galactocerebrosidase activity Reduced galactocerebrosidase activity in cultured fibroblasts Reduced leukocyte galactocerebrosidase activity human_phenotype HP:0034322 Reduced galactocerebrosidase activity is a feature of Krabbe disease. Galactosylceramidase is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon Reduced tissue galactocerebrosidase activity HP:0034322 Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. PMID:34015306 Concentration of growth hormone in the blood circulation below normal limits. 2022-08-17T16:18:35Z Growth hormone deficiency Somatotropin deficiency human_phenotype HP:0034323 Reduced circulating growth hormone concentration HP:0034323 An abnormal widening (dilatation) of the brachiocephalic artery 2022-08-17T17:31:02Z Dilatated brachiocephalic artery Innominate artery aneurysm human_phenotype HP:0034324 See Figure 1 of PMID:33743755. Brachiocephalic artery aneurysm HP:0034324 An abnormal widening (dilatation) of the brachiocephalic artery PMID:33743755 An abnormal widening (dilatation) of the common carotid artery. 2022-08-17T17:35:08Z human_phenotype HP:0034325 Common carotid artery aneurysm HP:0034325 Inappropriate (ectopic) endometrial tissue proliferation within the uterine myometrium, often presenting clinically with painful menses and heavy menstrual bleeding. 2022-08-17T22:34:21Z human_phenotype HP:0034326 Adenomyosis HP:0034326 Inappropriate (ectopic) endometrial tissue proliferation within the uterine myometrium, often presenting clinically with painful menses and heavy menstrual bleeding. PMID:24771944 PMID:30969690 Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination. 2022-08-17T22:44:10Z Punctiform multicolored opacities in the posterior corneal stroma Punctiform multicoloured opacities in the posterior corneal stroma human_phenotype HP:0034327 Posterior corneal stroma punctiform multicolored opacities HP:0034327 Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination. PMID:29728753 Punctiform multicoloured opacities in the posterior corneal stroma A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar. 2022-08-17T23:05:45Z Fibro-obliterative bile-duct scarring Fibro-obliterative loss of bile ducts human_phenotype HP:0034328 See Figure 3 in PMID:18701947. Fibro-obliterative bile-duct lesion HP:0034328 A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar. PMID:18701947 A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly. 2022-08-20T13:16:59Z Bilateral hemimegalencephaly human_phenotype HP:0034329 Dysplastic megalencephaly HP:0034329 A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly. PMID:29594439 Decreased range of right ventricular motion in a portion of the right ventricle of the heart. 2022-08-20T13:37:46Z human_phenotype HP:0034330 Regional right ventricular hypokinesis HP:0034330 Decreased range of right ventricular motion in a portion of the right ventricle of the heart. PMID:16549640 Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle. 2022-08-20T13:41:43Z human_phenotype HP:0034331 A positive McConnell sign may be observed in patients with pulmonary embolism or right ventricular infarction. McConnell sign HP:0034331 Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle. PMID:15664548 Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones. 2022-08-20T14:07:53Z human_phenotype HP:0034332 Cognitive regression HP:0034332 Elevated concentration of hypoxanthine in the blood circulation. 2022-08-20T14:13:25Z Hypoxanthine high in blood human_phenotype HP:0034333 Increased circulating hypoxanthine concentration HP:0034333 The terms in this hierarchy can be used to specify the context in which inheritance of a disease is typically observed. 2022-09-04T11:54:50Z Inheritance modifier human_phenotype HP:0034335 Inheritance qualifier HP:0034335 Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion. 2022-09-04T12:24:15Z Spleen infarct Spleen infarction Splenic infarct human_phenotype HP:0034336 Splenic infarction may be global or involve a segment of the spleen depending on which vessel is occluded. Typical presentation includes left sided abdominal pain in a person with an underlying hematologic disorder, hypercoagulable state, blood-borne malignancy, blunt abdominal trauma, or embolic illness. Splenic infarction HP:0034336 Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion. PMID:23281181 PMID:28613652 An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw. 2022-09-04T12:25:23Z human_phenotype HP:0034337 Anything that may lead to ulnar nerve palsy can cause claw hand. Ulnar nerve palsy can arise from a laceration anywhere along its course. Proximal injuries to the medial cord of the brachial plexus may also present with sensory loss distally. Ulnar nerve palsies can also be due to cubital tunnel syndrome and ulnar tunnel syndrome. These are compression neuropathies at the elbow and wrist. Another cause of ulnar nerve palsy may be a failure to splint the hand in an intrinsic-plus posture following a crush injury. There are a few systemic diseases that may also lead to ulnar nerve palsy. These include leprosy, syringomyelia, and Charcot-Marie-Tooth disease. Claw hand deformity HP:0034337 An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw. PMID:29939558 Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated. 2022-09-04T13:13:25Z human_phenotype HP:0034338 Imprinting disorders can be caused by a variety of mutational mechanisms (including copy number variants, nucleotide variants, and abnormal imprinting patterns) thus requiring some care when designing analytic pipelines. Imprinted HP:0034338 A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes. 2022-09-04T13:22:42Z Pseudoautosomal region inheritance human_phenotype HP:0034339 The pseudoautosomal regions (PAR1 and PAR2) are short regions of homology between the mammalian X and Y chromosomes. The PAR behave like an autosome and recombine during meiosis. Thus genes in this region are inherited in an autosomal rather than a strictly sex-linked fashion. Pseudoautosomal inheritance HP:0034339 A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes. PMID:18660847 A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype. 2022-09-04T13:30:31Z monoallelic_PAR human_phenotype HP:0034340 Pseudoautosomal dominant inheritance HP:0034340 monoallelic_PAR A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype. 2022-09-04T13:36:30Z biallelic_PAR human_phenotype HP:0034341 Pseudoautosomal recessive inheritance HP:0034341 biallelic_PAR A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax). 2022-09-04T13:46:04Z human_phenotype HP:0034342 Trapezius muscle aplasia HP:0034342 A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females. 2022-09-04T13:51:05Z human_phenotype HP:0034343 Craniofrontonasal dysplasia due to EFNB1 and PCDH19-related epilepsy are both X-linked recessive and paradoxically more severe in females. Hemizygous males may be mildly affected but seldom manifest the full phenotype. Importantly the mutant allele can be inherited from a normal or very mildly affected father. The mechanism is currently accepted to be due to cellular interference whereby the two distinct cell populations (those with and without the variant) exhibit abnormal cellular interactions in the mosaic state - in women, who are functionally mosaic due to random X inactivation, or mosaic males. The same mechanism could theoretically be applicable to autosomal genes with a mosaic variant. Requires heterozygosity HP:0034343 Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex. 2022-09-04T14:10:48Z human_phenotype HP:0034344 Female-limited expression HP:0034344 A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. 2022-09-04T14:25:17Z human_phenotype HP:0034345 Mendelian, or monogenic, inheritance of human diseases refers to patterns of transmission of recognizable disease entities. In many cases variability of clinical manifestations is observed and may be related to variation in other genes, environmental factors, or other unknown causes. Mendelian inheritance HP:0034345 An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed. 2022-09-04T14:58:56Z human_phenotype HP:0034346 Nesidioblastosis HP:0034346 An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed. PMID:15517495 PMID:24645840 Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region. 2022-09-04T15:00:56Z Palpable great auricular nerve human_phenotype HP:0034347 Greater auricular nerve thickening HP:0034347 A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve. 2022-09-04T15:46:32Z Infundibular pulmonary stenosis Infundibular pulmonic stenosis Subvalvar pulmonary stenosis Subvalvar pulmonic stenosis Subvalvular pulmonary stenosis Subvalvular pulmonic stenosis human_phenotype HP:0034348 Subpulmonary stenosis HP:0034348 A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve. PMID:34304616 A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve. 2022-09-04T15:52:44Z Supravalvar pulmonnic stenosis Supravalvular pulmonary stenosis Supravalvular pulmonic stenosis human_phenotype HP:0034349 Supravalvar pulmonary stenosis HP:0034349 A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve. PMID:34304616 A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve. 2022-09-04T15:53:59Z human_phenotype HP:0034350 Valvular pulmonary stenosis HP:0034350 Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness. 2022-09-04T15:57:35Z Peripheral nerve hyperexcitability human_phenotype HP:0034351 Neuromyotonia HP:0034351 Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness. PMID:29554580 An elevated growth from the the mucosa of the bile duct. 2022-09-04T18:28:27Z human_phenotype HP:0034352 Bile duct polyp HP:0034352 A type of spasticity that affects one or more limbs (arms or legs). 2022-09-04T18:49:24Z Extremity spasticity Limb spasticity Spastic extremities Spastic limb Spastic limbs Spasticity of extremities Spasticity of extremity Spasticity of limbs human_phenotype HP:0034353 Appendicular spasticity HP:0034353 Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft. 2022-09-04T19:03:05Z human_phenotype HP:0034354 Hair from individuals with trichothiodistrophy (TTD) exhibits an alternating light and dark (so-called tiger tail) banding pattern with trichoschisis. See figure 2 of PMID:23180925. Trichoschisis HP:0034354 Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft. PMID:23180925 On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis. 2022-09-04T19:22:53Z human_phenotype HP:0034355 See figure 30 in PMID:29089832. White cerebellum sign HP:0034355 On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis. PMID:29089832 Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. 2022-09-04T19:41:41Z Increased low molecular weight protein excretion human_phenotype HP:0034356 Urinary proteins are reabsorbed by the renal tubule cells, and increased low molecular weight protein fractional excretion can be a sign of tubular proteinuria. Impaired renal tubular reabsorption of low molecular weight protein HP:0034356 Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. https://orcid.org/0000-0002-2234-4248 Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:42:47Z human_phenotype HP:0034357 Impaired renal tubular reabsorption of glucose HP:0034357 Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. https://orcid.org/0000-0002-2234-4248 Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:45:17Z human_phenotype HP:0034358 Impaired renal tubular reabsorption of sodium HP:0034358 Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption. https://orcid.org/0000-0002-2234-4248 Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. 2022-09-04T19:48:58Z human_phenotype HP:0034359 Impaired renal tubular reabsorption of phosphate HP:0034359 Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. PMID:25287933 PMID:31474092 A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. 2022-09-04T19:51:28Z human_phenotype HP:0034360 Action myoclonus HP:0034360 A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli. PMID:3080851 Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen. 2022-09-04T21:36:40Z human_phenotype HP:0034361 See Figure 4c of PMID:8944018. Redundant umbilical skin HP:0034361 Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen. PMID:8944018 Reduced brightness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. 2022-09-04T21:42:36Z Decreased foveal light reflex Muted foveal light reflex Poor foveal light reflex human_phenotype HP:0034362 Dull foveal reflex HP:0034362 Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea. 2022-09-04T21:55:08Z Surfer's eye Wing-shaped conjunctiva human_phenotype HP:0034363 In ophthalmological contexts, the word 'pterygium' is frequently used without further qualifiers to denote corneal pterygium. Corneal pterygium HP:0034363 Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea. PMID:34104871 Surfer's eye Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue. 2022-09-04T22:33:13Z human_phenotype HP:0034364 Fibrofatty replacement of right ventricular myocardium HP:0034364 Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue. PMID:9691102 Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation. 2022-09-04T22:44:20Z Elevated circulating piperideine-6-carboxylic acid concentration human_phenotype HP:0034365 Elevated circulating alpha-aminoadipic semialdehyde concentration HP:0034365 Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation. PMID:17560822 Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn. 2022-09-05T00:14:14Z human_phenotype HP:0034366 Fracture blister HP:0034366 Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn. PMID:21691490 Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides. 2022-09-05T00:50:03Z human_phenotype HP:0034367 Decreased circulating beta-mannosidase activity HP:0034367 Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra. 2022-09-05T01:02:37Z human_phenotype HP:0034368 Urolithiasis HP:0034368 Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra. PMID:32644527 Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue. 2022-09-05T10:57:01Z human_phenotype HP:0034369 Decreased level of coenzyme Q10 in skeletal muscle HP:0034369 Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue. PMID:16400613 2022-09-05T10:59:04Z human_phenotype HP:0034370 Abnormal muscle tissue metabolite concentration HP:0034370 The concentration of prekallikrein in the blood circulation is below the lower limit of normal. 2022-09-05T11:22:15Z human_phenotype HP:0034371 Prekallikrein (PK; also known as Fletcher factor) is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII. Most cases of prekallikrein deficiency are asymptomatic. Decreased circulating prekallikrein concentration HP:0034371 2022-09-05T11:27:14Z Internal tibial rotation human_phenotype HP:0034372 Internal twisting of the tibia resulting in the toes of each foot pointing inward (intoeing) . Internal tibial torsion HP:0034372 External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) . 2022-09-05T11:27:21Z External tibial rotation human_phenotype HP:0034373 External tibial torsion HP:0034373 Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident. 2022-09-05T11:35:10Z Trident acetabula human_phenotype HP:0034374 See figure 2 of PMID:28744080. Trident acetabulum HP:0034374 Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident. PMID:28744080 Trident acetabula Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical. 2022-09-05T11:42:37Z human_phenotype HP:0034375 Spherophakia HP:0034375 Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve. 2022-09-05T11:50:30Z human_phenotype HP:0034376 Atrioventricular valve regurgitation HP:0034376 Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR. 2022-09-05T11:55:02Z human_phenotype HP:0034377 Single atrioventricular valve regurgitation HP:0034377 Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR. PMID:32419552 Blockage of the flow of urine from the bladder into the urethra. 2022-09-05T13:18:49Z human_phenotype HP:0034378 Urethrovesical occlusion HP:0034378 Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. HP:0003657 2022-09-05T13:46:07Z human_phenotype HP:0034379 obsolete Vascular granular osmiophilic material deposition true HP:0034379 Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. PMID:17183453 Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia. 2022-09-05T13:51:56Z human_phenotype HP:0034380 Juvenile type testicular granulosa cell tumor HP:0034380 Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia. NCIT:C4207 PMID:17652550 Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements. 2022-09-05T13:54:22Z CNS axonal spheroid human_phenotype HP:0034381 Central nervous system axonal spheroid HP:0034381 Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements. PMID:27423618 PMID:34678457 A decrease in or disappearance of signs and symptoms typically associated with a disease course. 2022-09-05T14:19:59Z human_phenotype HP:0034382 Disease remission HP:0034382 A decrease in or disappearance of signs and symptoms typically associated with a disease course. https://orcid.org/0000-0001-8314-2140 Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation. 2022-09-07T13:06:57Z human_phenotype HP:0034383 Elevated circulating biliverdin concentration HP:0034383 Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation. PMID:19580635 Increased ratio of insulin to C-peptide in the blood circulation. 2022-09-07T13:34:06Z human_phenotype HP:0034384 Insulin and C-peptide are secreted into portal vein in equimolar amounts, but the serum ratio is normally from 1:5 to 1:15 due to removal of approximately 50% of insulin from blood during initial passage through the liver. Elevated circulating insulin:C-peptide ratio HP:0034384 Increased ratio of insulin to C-peptide in the blood circulation. PMID:15161766 A deviation from the normal range of the left ventricular endsystolic diameter. 2022-09-07T13:37:59Z human_phenotype HP:0034385 The measurement of the left ventricular endsystolic diameter is performed in the parasternal long-axis view, perpendicular to the long axis of the left ventricle at the tips of the mitral valve leaflets. It refers to the transverse (left-to-right) internal (luminal) distance, excluding thickness of walls. The normal range can be taken as 20-40 mm (total 2SD range 17.6-52.3 according to PMID:24451180). Abnormal left ventricular endsystolic diameter HP:0034385 A deviation from the normal range of the left ventricular endsystolic diameter. PMID:24451180 A lower than normal left ventricular endsystolic diameter. 2022-09-07T13:39:38Z human_phenotype HP:0034386 Reduced left ventricular endsystolic diameter HP:0034386 Encephalitis caused by bacterial infection. 2022-09-07T13:43:27Z human_phenotype HP:0034387 Bacterial encephalitis HP:0034387 Encephalitis caused by bacterial infection. PMID:20952256 https://orcid.org/0000-0002-6310-0434 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). 2022-09-26T18:39:43Z Hilar adenopathy Hilar lymphadenopathy human_phenotype HP:0034388 Hilar lymph node enlargement HP:0034388 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral). https://orcid.org/0000-0002-4095-8489 Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. 2022-09-26T18:41:44Z Pulmonary vein dilatation human_phenotype HP:0034389 Pulmonary vein varix HP:0034389 Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent. https://orcid.org/0000-0002-4095-8489 Abnormally decreased levels of glycine in cerebrospinal fluid. 2022-09-30T12:23:04Z Glycine low in CSF human_phenotype HP:0034390 Decreased CSF glycine concentration HP:0034390 A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. 2022-09-30T12:50:12Z human_phenotype HP:0034391 Elbow contracture HP:0034391 A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. 2022-09-30T12:53:13Z Contracture human_phenotype HP:0034392 To assess a joint contracture, the passive or active range of motion (ROM) of a joint with a contracture is assessed by moving the joint through its natural range with no active effort from the individual. The angular distance of the joint motion and the loss of ROM in a contracture is recorded through comparison with the contralateral joint or normative values. Conventionally, a joint contracture is named according to the joint involved and the direction opposite the lack of range. For example, inability to fully extend the knee is referred to as a knee flexion contracture, compared to inability to bend (flex) the knee, which is referred to as a knee extension contracture. Contractures in neuromuscular diseases develop due to intrinsic myotendinous structural changes and extrinsic factors. Known contributing extrinsic factors include decreased ability to actively move a limb through its full range of motion, immobility or static positioning for prolonged periods of time, and agonist antagonist muscle imbalance. Intrinsic muscle tissue alterations in dystrophic myopathies contribute to contracture formation. The most significant histologic changes are those of muscle fiber loss, abnormal residual dystrophic muscle fibers, segmental necrosis of muscle fibers, and increased amounts of adipose tissue, connective tissue, and fibrosis. Joint contracture HP:0034392 A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part. PMID:22938881 PMID:26247029 PMID:30928194 An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position. 2022-09-30T12:57:16Z human_phenotype HP:0034393 Elbow extension contracture HP:0034393 A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between. 2022-09-30T13:01:22Z Supination contracture of the forearm human_phenotype HP:0034394 Forearm supination contracture HP:0034394 A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between. 2022-09-30T13:04:58Z Pronation contracture of the forearm human_phenotype HP:0034395 Forearm pronation contracture HP:0034395 Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus. 2022-11-05T13:15:01Z human_phenotype HP:0034396 Hippocampal malrotation HP:0034396 Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus. PMID:33916495 Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints. 2022-11-05T13:23:47Z human_phenotype HP:0034397 Claw toe deformity is commonly seen in neuromuscular disorders. Claw toe deformity HP:0034397 Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints. PMID:28461920 Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes. 2022-11-05T13:26:14Z human_phenotype HP:0034398 Toe deformity HP:0034398 Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes. PMID:28461920 Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation. 2022-11-05T13:36:09Z human_phenotype HP:0034399 The determination of central motor conduction time is a sensitive method to detect myelopathies, and abnormalities may be observed in the absence of radiological changes. Prolonged central motor conduction time HP:0034399 Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation. PMID:24752292 Ringed creases of the skin of the extremities related to folding of excess skin. 2022-11-05T13:58:44Z human_phenotype HP:0034400 Circumferential skin creases on extremities HP:0034400 Ringed creases of the skin of the extremities related to folding of excess skin. PMID:26637975 An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia. 2022-11-05T14:03:43Z human_phenotype HP:0034401 Atypical teratoid/rhabdoid tumor HP:0034401 A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. 2022-11-05T14:04:19Z Malignant rhabdoid tumor of the kidney Malignant rhabdoid tumour of the kidney human_phenotype HP:0034402 Rhabdoid tumor of the kidney HP:0034402 A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. NCIT:C8715 PMID:24982576 PMID:33692948 Malignant rhabdoid tumour of the kidney A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules. 2022-11-05T14:05:55Z human_phenotype HP:0034403 Subcutaneous panniculitis-like T-cell lymphoma HP:0034403 Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum. 2022-11-06T22:10:09Z human_phenotype HP:0034404 Fungal hyphae in sputum HP:0034404 Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem. 2022-11-10T12:11:04Z Thick tectum human_phenotype HP:0034405 Enlarged tectum HP:0034405 Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem. PMID:23518331 2022-11-10T12:14:38Z Angiotensin-converting enzyme (ACE) high in CSF Angiotensin-converting enzyme high in CSF human_phenotype HP:0034406 Elevated CSF angiotensin-converting enzyme concentration HP:0034406 Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation. 2022-11-10T12:26:07Z 3-ketoacyl-CoA thiolase (THIO) deficiency human_phenotype HP:0034407 Reduced circulating 3-ketoacyl-CoA thiolase concentration HP:0034407 A dark, keratotic papule about 2-10 mm in diameter, usually occurring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage. 2022-11-10T12:37:29Z human_phenotype HP:0034408 Solitary angiokeratomas most commonly occur in the third or fourth decade of life but may occur in children. Solitary angiokeratoma HP:0034408 A dark, keratotic papule about 2-10 mm in diameter, usually occurring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage. PMID:8993949 A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis. 2022-11-10T12:41:04Z human_phenotype HP:0034409 Fordyce angiokeratoma HP:0034409 A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis. PMID:8993949 A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present as multiple reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface. 2022-11-10T12:51:30Z human_phenotype HP:0034410 Angiokeratoma circumscriptum naeviforme HP:0034410 A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present as multiple reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface. PMID:8993949 A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter. 2022-11-10T12:54:33Z human_phenotype HP:0034411 Angiokeratoma of Mibelli HP:0034411 A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter. PMID:8993949 A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography. 2022-11-10T13:08:32Z human_phenotype HP:0034412 Laryngeal mass HP:0034412 A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. 2022-11-10T13:18:58Z human_phenotype HP:0034413 Palate mass HP:0034413 Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip. 2022-11-10T13:20:59Z oral frenulum, thick human_phenotype HP:0034414 Thick oral frenulum HP:0034414 A type of dental trauma characterized by total dislocation of the tooth from its socket. 2022-11-10T13:22:37Z Avulsed tooth Teeth: avulsion human_phenotype HP:0034415 Tooth avulsion HP:0034415 A type of dental trauma characterized by total dislocation of the tooth from its socket. PMID:30969698 Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip. 2022-11-10T13:24:31Z Laceration of oral frenulum Oral frenulum, torn human_phenotype HP:0034416 Torn oral frenulum HP:0034416 Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip. PMID:25426684 A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx. 2022-11-10T13:26:20Z Intraoral lacerations human_phenotype HP:0034417 Intraoral laceration HP:0034417 Intraoral lacerations An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium. 2022-11-10T13:27:53Z Oral mucosa erythema human_phenotype HP:0034418 Erythematous oral mucosa HP:0034418 An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium. PMID:30693460 Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation. 2022-11-12T11:59:07Z Flail mitral valve leaflet Mitral chordae tendineae rupture human_phenotype HP:0034419 The chordae provide the critical function of anchoring the mitral leaflets during systole, allowing for symmetric coaptation and preventing prolapse of the leaflets into the left atrium. The chordae are attached to the left ventricle via the papillary muscles. Mitral chordae tendinae rupture HP:0034419 Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation. PMID:30470812 Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient. 2022-11-12T12:05:01Z UMLS:0189573 human_phenotype HP:0034420 History of cardiovascular procedure HP:0034420 A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds. 2022-11-12T12:09:45Z PMID:21250045 Cardiac click sound on auscultation human_phenotype HP:0034421 Ejection click HP:0034421 Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin. 2022-11-12T12:21:29Z human_phenotype HP:0034422 Cryofibrinogenemia (CF) can be detected in both healthy persons and patients with different disorders, including autoimmune diseases, cancer, infections, etc. Cryofibrinogen should be distinguished from cryoglobulin since, unlike the latter, it precipitates only in plasma and not in serum. Cryofibrinogenemia HP:0034422 Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin. PMID:27789759 Applies to a sign or symptom that is provoked or brought about by exposure to allergens. 2022-11-12T12:27:00Z human_phenotype HP:0034423 Triggered by allergens HP:0034423 A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers. 2022-11-12T12:34:55Z human_phenotype HP:0034424 Clicking tinnitus may be caused by conditions including palatal myoclonus, which is characterized by a rhythmic contraction of the palatal muscles including the levator veli palatini and the tensor palatini muscles. Clicking tinnitus HP:0034424 A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers. PMID:34147152 Abnormally low amount of sulfur in hair. 2022-11-12T12:52:05Z Hair sulfur content reduced Hair sulphur content reduced human_phenotype HP:0034425 Normal hair keratin is high in sulfur content. Reduced hair sulfur content HP:0034425 Abnormally low amount of sulfur in hair. PMID:11369901 Hair sulphur content reduced Secretion of colored sweat. 2022-11-23T23:13:10Z human_phenotype HP:0034426 While chromhidrosis is a clinical diagnosis, further studies may be needed to ascertain the type and cause of chromhidrosis if not apparent from the history and physical examination. A Wood's lamp will fluoresce green, blue, and yellow apocrine gland secretions yellow, while black and dark brown secretions usually do not fluoresce. Chromhidrosis HP:0034426 Secretion of colored sweat. PMID:32119282 Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together. 2022-11-23T23:18:49Z Mucopurulent discharge from the eye human_phenotype HP:0034427 Purulent eye discharge HP:0034427 Disproportionately large eyelids 2022-11-23T23:23:03Z human_phenotype HP:0034428 Megaloblepharon HP:0034428 Disproportionately large eyelids PMID:4236972 Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results. 2022-11-24T00:12:43Z Bacteria in CSF human_phenotype HP:0034429 Bacteria in cerebrospinal fluid HP:0034429 Bacteria in CSF 2022-11-24T00:18:11Z human_phenotype HP:0034430 Abnormal joint physiology HP:0034430 A popping, clicking or crackling sound that accompaniees movement of a joint. 2022-11-24T00:18:31Z human_phenotype HP:0034431 Joint crepitus HP:0034431 Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff. 2022-11-26T13:08:34Z Intertriginous distribution of skin lesions human_phenotype HP:0034432 The word intertrigo comes from the Latin inter (between) and terere (to rub) and reflects the rubbing together of skin against skin to create maceration and irritation, hence, friction dermatitis or chaffing. Intertriginous distribution HP:0034432 Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff. PMID:21396557 Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage. 2022-11-26T13:11:23Z Distributed along Langer's lines Lesions follow lines of cleavage human_phenotype HP:0034433 Distributed along skin tension lines HP:0034433 Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level. 2022-11-26T13:19:28Z HP:5200128 human_phenotype HP:0034434 Abnormal communication HP:0034434 Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms. 2022-11-26T13:20:57Z human_phenotype HP:0034435 Abnormal eye contact HP:0034435 A deliberate avoidance of eye contact. 2022-11-26T13:30:07Z Gaze aversion human_phenotype HP:0034436 Gaze avoidance HP:0034436 Gaze aversion https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Tendency to maintain sustained eye contact for an inappropriately long period of time. 2022-11-26T13:34:40Z human_phenotype HP:0034437 Excessive eye contact HP:0034437 Tendency to maintain sustained eye contact for an inappropriately long period of time. PMID:29182643 Inflammation of glans penis 2022-11-26T13:37:26Z human_phenotype HP:0034438 Balanitis HP:0034438 Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep). 2022-11-26T13:40:17Z Instep localization to skin abnormality human_phenotype HP:0034439 Instep location HP:0034439 Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy). 2022-11-26T13:42:56Z Ultraviolet exposure improves condition human_phenotype HP:0034440 Ameliorated by ultraviolet light exposure HP:0034440 An reduced concentration of aspartic acid in the blood circulation. 2022-11-26T13:49:27Z Aspartic acid low in blood human_phenotype HP:0034441 Decreased circulating aspartic acid concentration HP:0034441 Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. 2022-11-26T14:00:25Z human_phenotype HP:0034442 Abnormal circulating erythropoietin concentration HP:0034442 Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. 2022-11-26T14:01:10Z Erythropoietin low in blood human_phenotype HP:0034443 Reduced circulating erythropoietin concentration HP:0034443 Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. PMID:30725682 Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. 2022-11-26T14:05:48Z human_phenotype HP:0034444 A common reference range for children an adults is between 0 and 30 international units per liter (IU/L). Abnormal gamma-glutamyltransferase level HP:0034444 Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. 2022-11-26T14:07:38Z Gamma-glutamyl transferase low in blood human_phenotype HP:0034445 Reduced gamma-glutamyltransferase level HP:0034445 Increased concentration of histamine in the blood circulation. 2022-11-26T14:10:44Z Histamine high in blood human_phenotype HP:0034446 The blood histamine concentration is normally very low but may be increased if released from activated mast cells, for example in an allergic response. Elevated circulating histamine concentration HP:0034446 An increased concentration of interleukin-18 in the blood circulation. 2022-11-26T14:13:53Z IL-18 high in blood human_phenotype HP:0034447 Increased circulating interleukin 18 concentration HP:0034447 Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration. 2022-11-26T14:18:58Z Abnormal phytanic acid to pristanic acid ratio Abnormal phytanic acid/pristanic acid ratio human_phenotype HP:0034448 The pristanic acid/phytanic acid ratio is of value for the differential diagnosis of Refsum disease, rhizomelic chondrodysplasia punctata, peroxisome deficiency disorders and isolated peroxisomal beta-oxidation defects. Abnormal phytanic acid:pristanic acid ratio HP:0034448 Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration. PMID:21570468 An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration. 2022-11-26T14:26:19Z Phytanic acid to pristanic acid ratio high human_phenotype HP:0034449 This feature may be observed in diseases such as Alpha-methylacyl-CoA racemase deficiency. Increased phytanic acid:pristanic acid ratio HP:0034449 An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration. PMID:31822849 A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration. 2022-11-26T14:30:14Z Phytanic acid to pristanic acid ratio low human_phenotype HP:0034450 Decreased phytanic acid:pristanic acid ratio HP:0034450 An aberrant, pathological communication between the rectum and the bladder. 2022-11-26T14:46:50Z Vesicorectal fistula human_phenotype HP:0034451 Rectovesical fistula HP:0034451 An abnormal connection (fistula) between the rectum and the ureter. 2022-11-26T14:49:03Z human_phenotype HP:0034452 Rectoureteral fistula HP:0034452 Underdevelopment of the umbilicus. 2022-11-26T14:50:04Z Umbilicus hypoplastic human_phenotype HP:0034453 Hypoplastic umbilicus HP:0034453 Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull. 2022-12-03T22:24:16Z human_phenotype HP:0034454 Arachnoid granulation HP:0034454 Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull. PMID:22900137 Increased concentration of taurine in the cerebrospinal fluid (CSF). 2022-12-03T22:26:37Z Taurine high in CSF human_phenotype HP:0034455 Increased CSF taurine concentration HP:0034455 An abnormally increased level of glutathione in the blood circulation. 2022-12-03T22:30:24Z Glutathione high in blood human_phenotype HP:0034456 Elevated circulating glutathione concentration HP:0034456 The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal. 2022-12-03T22:34:57Z Hawkinsin high in urine human_phenotype HP:0034457 Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group. Hawkinsinuria HP:0034457 An abnormally increased amount of phenylpyruvic acid in the urine. 2022-12-04T14:26:00Z Phenylpyruvic acid high in urine human_phenotype HP:0034458 Elevated urinary phenylpyruvic acid level HP:0034458 Applies to a sign or symptom that is improved or made more bearable by lumbar puncture. 2022-12-03T23:21:49Z Lumbar puncture relieves symptoms human_phenotype HP:0034459 Ameliorated by lumbar puncture HP:0034459 An increased level of uracil in the cerebrospinal fluid. 2022-12-03T23:24:34Z human_phenotype HP:0034460 Increased CSF uracil concentration HP:0034460 An abnormally increased amount of kynurenine in the urine. 2022-12-04T14:30:54Z Kynurenine high in urine human_phenotype HP:0034461 Elevated urine kynurenine level HP:0034461 An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF). 2022-12-04T14:35:35Z L-alloisoleucine high in CSF human_phenotype HP:0034462 Increased CSF L-alloisoleucine concentration HP:0034462 An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover. 2022-12-04T14:40:12Z Hydroxylysine present in blood human_phenotype HP:0034463 Hydroxylysinemia HP:0034463 An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover. PMID:404321 An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders. 2022-12-04T14:49:28Z Homocitrulline present in urine human_phenotype HP:0034464 Homocitrullinuria HP:0034464 The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2022-12-04T14:57:01Z 2-hydroxyadipic acid high in urine human_phenotype HP:0034465 2-hydroxyadipic aciduria HP:0034465 An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid. 2022-12-04T14:59:09Z Homoarginine high in urine human_phenotype HP:0034466 Homoargininuria HP:0034466 An increased concentration of cysteine in the urine. 2022-12-04T15:05:36Z human_phenotype HP:0034467 Increased urinary cysteine level HP:0034467 Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids. 2022-12-04T15:14:29Z Gastric xanthomas Gastric xanthomata human_phenotype HP:0034468 Gastrix xanthoma is usually an incidental endoscopic finding of unclear clinical significance. Gastric xanthoma HP:0034468 Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids. PMID:32149048 Gastric xanthomas Gastric xanthomata Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency. 2022-12-04T15:30:25Z Elastase low in stool human_phenotype HP:0034469 Decreased stool elastase level HP:0034469 Elevated amount of chloride in the stool. 2022-12-04T15:32:31Z Chloride high in stool Elevations in faecal chloride concentration Elevations in fecal chloride concentration human_phenotype HP:0034470 Elevated stool chloride content HP:0034470 Elevated amount of chloride in the stool. PMID:2651131 Elevations in faecal chloride concentration Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces. 2022-12-04T15:35:43Z Coproporphyrin isomer III/I ratio high in stool Increased faecal CIII:CI ratio Increased fecal CIII:CI ratio human_phenotype HP:0034471 Increased fecal coproporphyrin III:coproporphyrin I ratio HP:0034471 Increased faecal CIII:CI ratio Increased fecal CIII:CI ratio Abnormally high concentration of harderoporphyrin in feces. 2022-12-04T15:39:33Z Harderoporphyrin high in stool human_phenotype HP:0034472 Increased fecal harderoporphyrin HP:0034472 Abnormally high concentration of heptacarboxylporphyrin in feces. 2022-12-04T15:41:28Z Heptacarboxylporphyrin high in stool human_phenotype HP:0034473 Increased fecal heptacarboxylporphyrin HP:0034473 Abnormally high concentration of pentacarboxylporphyrin in feces. 2022-12-04T15:42:30Z Pentacarboxylporphyrin high in stool human_phenotype HP:0034474 Increased fecal pentacarboxylporphyrin HP:0034474 Abnormally high concentration of isocoproporphyrin in feces. 2022-12-04T15:43:30Z Isocoproporphyrin high in stool human_phenotype HP:0034475 Increased fecal isocoproporphyrin HP:0034475 Identification of Clostridium botulinum toxin in the feces. 2022-12-04T15:45:14Z Clostridium botulinum toxin in stool human_phenotype HP:0034476 Positive fecal Clostridium botulinum test HP:0034476 Identification of Clostridium botulinum toxin in the feces. PMID:16614251 Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance. 2022-12-04T17:20:36Z Peri-hepatic adhesions human_phenotype HP:0034477 Perihepatic adhesions HP:0034477 Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance. PMID:11528133 Abnormal increase in diameter (expansion) of the vas deferens. 2022-12-04T18:05:29Z Vas deferens dilated human_phenotype HP:0034478 Dilated vas deferens HP:0034478 Abnormal increase in the size of the epididymis. 2022-12-04T18:11:08Z Epididymis enlarged human_phenotype HP:0034479 Enlarged epididymis HP:0034479 2022-12-04T18:26:14Z Absent epididymides Epididymides absent human_phenotype HP:0034480 Absent epididymidis HP:0034480 Absent epididymides Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures. 2022-12-10T12:24:11Z human_phenotype HP:0034481 Gestures refer to movements of the arms, hand, shoulders, or head and do not include facial expressions. Atypical gestures HP:0034481 2022-12-10T14:01:21Z human_phenotype HP:0034482 Abnormal spinal cord physiology HP:0034482 The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow. 2022-12-10T14:10:53Z Bone marrow: vacuolated lymphocytes human_phenotype HP:0034483 Bone marrow vacuolated lymphocytes HP:0034483 The presence of calcium deposition in the spinal cord. 2022-12-10T14:21:53Z human_phenotype HP:0034484 Spinal cord calcifications HP:0034484 The presence of calcium deposition in the spinal cord. PMID:21427441 A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality. 2022-12-10T14:31:55Z Glioependymal cyst Neuroglial cyst human_phenotype HP:0034485 Neuroepithelial cyst HP:0034485 A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality. PMID:14672275 A diminished concentration of interleukin-7 in the circulation. 2022-12-10T14:38:04Z IL-7 low in blood human_phenotype HP:0034486 Reduced circulating interleukin 7 concentration HP:0034486 An increased concentration of interleukin-12 in the blood circulation. 2022-12-10T14:39:46Z IL-12 high in blood human_phenotype HP:0034487 Increased circulating interleukin 12 concentration HP:0034487 An increased concentration of interleukin-13 in the blood circulation. 2022-12-10T14:40:51Z IL-13 high in blood human_phenotype HP:0034488 Increased circulating interleukin 13 concentration HP:0034488 An increased concentration of interleukin-2 in the blood circulation. 2022-12-10T14:41:47Z IL-2 high in blood human_phenotype HP:0034489 Increased circulating interleukin 2 concentration HP:0034489 An increased concentration of interleukin-4 in the blood circulation. 2022-12-10T14:43:06Z IL-4 high in blood human_phenotype HP:0034490 Increased circulating interleukin 4 concentration HP:0034490 An increased concentration of interleukin-5 in the blood circulation. 2022-12-10T14:43:18Z IL-5 high in blood human_phenotype HP:0034491 Increased circulating interleukin 5 concentration HP:0034491 An inflammation of the fallopian tube. 2022-12-10T17:20:38Z human_phenotype HP:0034492 Salpingitis HP:0034492 An inflammation of the fallopian tube. PMID:19017411 A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease. 2022-12-10T17:22:52Z human_phenotype HP:0034493 Classically, a TOA manifests with an adnexal mass, fever, elevated white blood cell count, lower abdominal-pelvic pain, and/or vaginal discharge. Tubo-ovarian abscess HP:0034493 A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease. PMID:28846347 White appearance (radio-opaqueness) of a paranasal sinus on radiography. 2022-12-10T17:24:59Z Paranasal sinuses opacification Paranasal sinuses opacified human_phenotype HP:0034494 Opacified paranasal sinuses HP:0034494 White appearance (radio-opaqueness) of a paranasal sinus on radiography. PMID:16369155 An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). 2022-12-10T17:27:00Z human_phenotype HP:0034495 Elevated brain glutamine level by MRS HP:0034495 A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). 2022-12-10T17:27:43Z human_phenotype HP:0034496 Abnormal brain glutamine level by MRS HP:0034496 The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2022-12-10T17:32:29Z human_phenotype HP:0034497 Increased urinary hexanoic acid level HP:0034497 Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated. 2022-12-10T17:34:35Z Focal nodular hyperplasia human_phenotype HP:0034498 FNH is often an incidental finding Hepatic focal nodular hyperplasia HP:0034498 Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated. PMID:23396642 An increased amount of iron in the bone marrow. 2022-12-10T17:37:17Z Bone marrow: iron stores increased human_phenotype HP:0034499 This feature can be assessed by methods including Prussian blue staining of bone marrow smears. Increased bone marrow iron HP:0034499 An increased amount of iron in the bone marrow. PMID:70541 A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head. 2022-12-10T17:40:08Z human_phenotype HP:0034500 Glenoid fracture HP:0034500 A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head. PMID:31335046 Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm. 2022-12-10T17:43:55Z Mediastinal widening human_phenotype HP:0034501 This feature can be ascertained by plain chest radiography. A wide mediastinum has many causes which include thoracic aortic aneurysm of the ascending and proximal descending aorta, aortic dissection of ascending and proximal descending aorta, unfolding of the aorta, traumatic aortic rupture, hilar lymphadenopathy, mediastinal masses, mediastinitis, cardiac tamponade, and fractured ribs or thoracic vertebrae. Widened mediastinum HP:0034501 Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm. PMID:30969712 Abnormal decrease in the width of the mediastinum. 2022-12-10T17:53:22Z human_phenotype HP:0034502 Narrow mediastinum HP:0034502 Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary. 2022-12-10T17:59:22Z human_phenotype HP:0034503 Ovarian torsion HP:0034503 Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary. PMID:32809510 Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder. 2022-12-10T18:01:54Z human_phenotype HP:0034504 Septate gallbladder HP:0034504 Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder. PMID:19547674 Abnormal increased in the thickness of the wall of the gallbladder. 2022-12-10T18:04:23Z human_phenotype HP:0034505 Gallbladder wall thickening is a common yet nonspecific finding that can occur in a wide range of gallbladder diseases and extracholecystic conditions. Gallbladder wall thickening HP:0034505 Abnormal increased in the thickness of the wall of the gallbladder. PMID:24370153 Abnormal increased in the thickness of the size of the gallbladder. 2022-12-10T18:07:02Z Gallbladder enlarged human_phenotype HP:0034506 Gallbladder enlargement HP:0034506 Abnormal increased in the thickness of the size of the gallbladder. PMID:34496644 An abnormal lesion or swelling seen on gallbladder imaging. 2022-12-10T18:08:16Z human_phenotype HP:0034507 Gallbladder mass HP:0034507 Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints. 2022-12-11T14:04:39Z Muscle biopsy: fingerprint bodies at periphery of muscle fibers Muscle biopsy: fingerprint bodies at periphery of muscle fibres human_phenotype HP:0034508 See Figure 2 of PMID:32008911. Fingerprint bodies HP:0034508 Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints. PMID:32008911 Muscle biopsy: fingerprint bodies at periphery of muscle fibres An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber. 2022-12-11T14:16:26Z human_phenotype HP:0034509 See Figure 3 of PMID:571956. Spheroid bodies HP:0034509 An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber. PMID:571956 Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen. 2022-12-11T14:21:49Z human_phenotype HP:0034510 Abnormal muscle tissue enzyme activity or level HP:0034510 Diminished activity of the enzyne aconitase in muscle tissue. 2022-12-11T14:22:00Z Muscle biopsy: aconitase deficiency human_phenotype HP:0034511 Reduced muscle aconitase activity HP:0034511 Diminished activity of the enzyne aconitase in muscle tissue. PMID:29079705 A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain. 2022-12-11T14:33:54Z human_phenotype HP:0034512 Transitional-cell carcinoma of the ureter HP:0034512 A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain. PMID:11394453 An elevation in the concentration of interferon alpha measured in the blood circulation. 2022-12-14T13:26:50Z Interferon-alpha high in blood human_phenotype HP:0034513 Increased circulating Interferon-alpha concentration HP:0034513 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver. 2022-12-14T13:37:38Z human_phenotype HP:0034514 Liver hamartoma HP:0034514 Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ. 2022-12-14T13:42:26Z human_phenotype HP:0034515 Ameloblastoma HP:0034515 Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ. PMID:26015700 Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet. 2022-12-14T13:53:23Z Ketogenic diet improves symptoms human_phenotype HP:0034516 The ketogenic diet is a method of nutrition leading to the increased production of ketone bodies (beta-hydroxybutyrate, acetoacetate and acetone) in the organism and, thus, to a condition of ketosis. This effect comes about by obtaining the greatest energy share from fats and minimizing the consumption of carbohydrates. Ameliorated by ketogenic diet HP:0034516 Pretibial plaques occur in a specific pattern with hyperpigmentation, atrophy or induration and scarring of the lower limbs typically over the pretibial area. Hyperpigmentation appears to develop gradually from mild, brownish hyperpigmented patches clinically in keeping with haemosiderin deposition, to indurated or atrophic plaques and can progress to cover the entire circumference of the calf. Plaques are often associated with skin fragility, whether atrophic or indurated. They are thought to be a result of extensive bruising and confluent atrophic scars because of the increased fragility of dermis and small blood vessels. 2022-12-21T12:34:00Z Pretibial hyperpigmentation Pretibial plaques human_phenotype HP:0034517 Pretibial plaques are strongly associated with periodontal-type Ehlers-Danlos syndrome. See Figure 1 of PMID:24198978. Pretibial plaque HP:0034517 Pretibial plaques occur in a specific pattern with hyperpigmentation, atrophy or induration and scarring of the lower limbs typically over the pretibial area. Hyperpigmentation appears to develop gradually from mild, brownish hyperpigmented patches clinically in keeping with haemosiderin deposition, to indurated or atrophic plaques and can progress to cover the entire circumference of the calf. Plaques are often associated with skin fragility, whether atrophic or indurated. They are thought to be a result of extensive bruising and confluent atrophic scars because of the increased fragility of dermis and small blood vessels. PMID:24198978 PMID:27745832 PMID:34324282 PMID:37323685 Pretibial plaques Gums that are easily damaged. 2022-12-21T12:36:33Z Gum fragility human_phenotype HP:0034518 Gingival fragility HP:0034518 Gums that are easily damaged. PMID:34741498 The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin. 2022-12-21T12:48:28Z human_phenotype HP:0034519 Muscle fiber fuchsinophilic inclusion bodies HP:0034519 Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus. 2022-12-21T12:52:52Z human_phenotype HP:0034520 Esophageal myenteric plexus degeneration HP:0034520 Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas. 2023-02-06T12:37:24Z human_phenotype HP:0034521 Periorificial hyperkeratosis HP:0034521 Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas. PMID:22405088 Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy). 2023-02-06T12:43:16Z human_phenotype HP:0034522 Eosinophilic lymph node infiltration HP:0034522 Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine. 2023-02-06T12:54:03Z Parasitemia human_phenotype HP:0034523 Blood parasite HP:0034523 Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine. PMID:12731420 Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear. 2023-02-06T12:58:50Z human_phenotype HP:0034524 Bloodstream trypomastigotes HP:0034524 A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns. 2023-02-06T13:04:42Z human_phenotype HP:0034525 Adamantinoma HP:0034525 A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns. PMID:18279517 Deviation from the normal activity of an enzyme in muscle tissue. 2023-02-08T14:28:26Z human_phenotype HP:0034526 Abnormal enzyme activity in muscle tissue HP:0034526 Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. 2023-02-08T14:29:28Z human_phenotype HP:0034527 Reduced muscle phosphoglycerate kinase activity HP:0034527 Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate. PMID:8998855 Diminished production of type III procollagen by cultured skin fibroblasts. 2023-02-08T15:18:48Z Type III procollagen synthesis by fibroblasts low human_phenotype HP:0034528 Reduced fibroblast type III procollagen synthesis HP:0034528 Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia. 2023-02-08T15:50:15Z Muscle biopsy: myoadenylate deaminase low human_phenotype HP:0034529 Reduced muscle myoadenylate deaminase activity HP:0034529 Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia. PMID:10996775 A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone. 2023-02-10T13:31:24Z Angulated long bone human_phenotype HP:0034530 Bent long bone HP:0034530 A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone. PMID:25250905 A break or tear in the trachea. 2023-02-10T13:37:25Z human_phenotype HP:0034531 Tracheal rupture HP:0034531 A break or tear in the trachea. PMID:20693885 Elevated amount of glycogen in the myocardium. 2023-02-10T13:40:01Z Increased glycogen in myocardium human_phenotype HP:0034532 Increased myocardial glycogen content HP:0034532 Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor. 2023-02-10T13:43:12Z MAO inhibitors trigger attacks Triggered by MAO inhibitor human_phenotype HP:0034533 Triggered by monoamine oxidase inhibitor HP:0034533 Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor. PMID:30969670 Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor. 2023-02-10T13:45:39Z Serotonin uptake inhibitors trigger attacks human_phenotype HP:0034534 Triggered by serotonin reuptake inhibitor HP:0034534 Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor. PMID:32119293 Applies to a sign or symptom that is improved or made more bearable by treatment with acetazolamide. 2023-02-10T13:47:37Z Acetazolamide relieves attacks human_phenotype HP:0034535 Ameliorated by acetazolamide HP:0034535 Applies to a sign or symptom that is improved or made more bearable by treatment with a medication. Terms in this subhierarchy are intended to be used for cases in which the fact that a manifestation of a disease responds to a specific treatment can be used in the differential diagnosis. 2023-02-10T13:49:13Z human_phenotype HP:0034536 Ameliorated by exposure to medication HP:0034536 Applies to a sign or symptom that is improved or made more bearable by treatment with vitamin B12. 2023-02-10T13:51:09Z Vitamin B12 treatment produces improvement human_phenotype HP:0034537 Ameliorated by vitamin B12 HP:0034537 Applies to a sign or symptom that is improved or made more bearable by treatment with thiamine. 2023-02-10T13:52:20Z Thiamine: positive response human_phenotype HP:0034538 Ameliorated by thiamine HP:0034538 Applies to a sign or symptom that is improved or made more bearable by treatment with dantrolene. 2023-02-10T13:53:25Z Dantrolene reduces symptoms human_phenotype HP:0034539 Ameliorated by dantrolene HP:0034539 Applies to a sign or symptom that is improved or made more bearable by treatment with biotin. 2023-02-10T13:55:04Z Biotin supplementation produces improvement human_phenotype HP:0034540 Ameliorated by biotin HP:0034540 Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems. 2023-02-10T13:57:45Z human_phenotype HP:0034541 Reduced bone-marrow megakaryocyte size HP:0034541 Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems. PMID:17515875 Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy. 2023-02-10T14:59:21Z human_phenotype HP:0034542 See Figure 1 of PMID:11234560. Hairshafts with longitudinal grooves HP:0034542 Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy. PMID:11234560 Presence of viable mycobacteria in the blood. 2023-02-17T16:39:34Z Mycobacterium present on blood culture human_phenotype HP:0034543 Mycobacterium bacteremia HP:0034543 Presence of viable mycobacteria in the blood. PMID:2498390 Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes. 2023-02-17T16:43:27Z Delta-aminolevulinate dehydratase activity low Delta-aminolevulinate dehydratase deficiency human_phenotype HP:0034544 Decreased delta-aminolevulinate dehydratase activity HP:0034544 Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation. 2023-02-17T18:28:34Z Elevated circulating SPINK1 activity Elevated circulating serine protease inhibitor Kazal type I human_phenotype HP:0034545 Pancreatic secretory trypsin inhibitor (PSTI), also known as serine protease inhibitor Kazal type I (SPINK1), binds rapidly to trypsin, inhibits its activity and is likely to protect the pancreas from prematurely activated trypsinogen. The blood concentration of PSTI may be increased in hepatocellular carcinoma and as a part of the acute phase reposnse response to infection, inflammation, tissue damage and other stressors. Elevated circulating pancreatic secretory trypsin inhibitor activity HP:0034545 Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation. PMID:21607145 A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes. 2023-02-19T18:25:40Z human_phenotype HP:0034546 Presence of uterus in 46,XY individual HP:0034546 A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes. PMID:25905393 Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction. 2023-02-19T18:26:54Z human_phenotype HP:0034547 Intraluminal meconium calcification HP:0034547 A developmental defect characterized by underdevelopment of the portal vein. 2023-02-19T18:35:18Z Hypoplasia of the portal veins human_phenotype HP:0034548 Portal vein hypoplasia HP:0034548 Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries 2023-02-19T18:52:23Z human_phenotype HP:0034549 Pheochromocytoma, Cortical Carcinoma, Adrenal leiomyoma present with heterogeneously enhancing masses on different imaging modalities but cannot be differentiated solely based on imaging. Adrenal leiomyoma HP:0034549 Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries PMID:34340048 Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells. 2023-02-19T19:04:56Z human_phenotype HP:0034550 Small intestinal lymphoplasmacytic infiltrate HP:0034550 Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells. PMID:8343045 Applies to a sign or symptom that is provoked or brought about by exposure to neuroleptic (also known as antipsychotic) medication. 2023-02-19T20:19:05Z Triggered by antipsychotic medication human_phenotype HP:0034551 Triggered by neuroleptic medication HP:0034551 Applies to a sign or symptom that is provoked or brought about by exposure to neuroleptic (also known as antipsychotic) medication. PMID:29083668 Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species. 2023-02-19T20:27:01Z human_phenotype HP:0034552 Abnormal peroxisomal morphology HP:0034552 Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species. PMID:35788297 Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy. 2023-02-19T20:40:03Z human_phenotype HP:0034553 Absence of peroxisomes HP:0034553 Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy. PMID:8940266 Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy. 2023-02-19T20:43:52Z human_phenotype HP:0034554 Paucity of peroxisomes HP:0034554 Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle. 2023-02-19T20:46:52Z human_phenotype HP:0034555 Reduced sulfide:quinone oxidoreductase activity HP:0034555 Refers to distribution of neurological deficits that corresponds to a deficit of a specific spinal segment and all segments below it. 2023-02-19T20:49:10Z human_phenotype HP:0034556 Deficit at segmental level HP:0034556 Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. 2023-02-19T21:17:38Z human_phenotype HP:0034557 Rhabdoid tumor HP:0034557 Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues. PMID:33692948 A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers. 2023-02-19T21:20:40Z human_phenotype HP:0034558 Rhabdoid tumor of the ovary HP:0034558 A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers. PMID:26076162 PMID:26349416 A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered. 2023-02-19T21:23:35Z human_phenotype HP:0034559 Cardiac rhabdoid tumor HP:0034559 A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered. PMID:35883926 A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder. 2023-02-19T21:27:33Z human_phenotype HP:0034560 Malignant rhabdoid tumor of the bladder HP:0034560 A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder. PMID:31733273 A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific. 2023-02-19T21:31:17Z human_phenotype HP:0034561 Malignant rhabdoid tumor of liver HP:0034561 A malginant rhabdoid tumor (MRT) originating in muscle tissue. 2023-02-19T21:38:00Z human_phenotype HP:0034562 Malignant rhabdoid tumor of muscle HP:0034562 A malginant rhabdoid tumor (MRT) originating in muscle tissue. PMID:33658498 A teratoma located in the neck. 2023-02-19T21:45:33Z human_phenotype HP:0034563 Neck teratoma HP:0034563 A teratoma located in a kidney. 2023-02-19T21:47:20Z human_phenotype HP:0034564 Kidney teratoma HP:0034564 Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis. 2023-02-20T13:31:22Z HP:6000117 Elevated urinary AICA-riboside level human_phenotype HP:0034565 Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level HP:0034565 Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis. PMID:15114530 A developmental anomnaly characterized by the lack of development of the posterior communicating artery. 2023-02-20T13:33:39Z Absence of both posterior communicating arteries human_phenotype HP:0034566 The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. Aplasia of posterior communicating artery HP:0034566 A developmental anomaly characterized by congenital excavation of the optic nerve head. 2023-02-20T13:36:47Z Optic disc pit Optic nerve pit human_phenotype HP:0034567 Optic pit HP:0034567 A developmental anomaly characterized by congenital excavation of the optic nerve head. PMID:27847606 Optic disc pit Applies to a sign or symptom that is improved or made more bearable by treatment with naloxone, an opioid antagonist. 2023-02-20T13:40:24Z human_phenotype HP:0034568 Ameliorated by naloxone HP:0034568 Applies to a sign or symptom that is improved or made more bearable by ingestion of pyridoxal phosphate (activated vitamin B6). 2023-02-20T13:46:50Z human_phenotype HP:0034569 Ameliorated by pyridoxal phosphate HP:0034569 Increased width of the vascular wall of portal venules within the liver. 2023-02-20T13:53:34Z human_phenotype HP:0034570 The portal vein (PV) is the main vessel of the portal venous system (PVS), which drains the blood from the gastrointestinal tract, gallbladder, pancreas, and spleen to the liver. Once in the liver, the PV ramifies and reaches the sinusoids, forming portal venules. Thickened intrahepatic portal venules HP:0034570 Increased width of the vascular wall of portal venules within the liver. PMID:30900187 Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary. 2023-02-20T13:57:58Z human_phenotype HP:0034571 Ovarian fibrosis HP:0034571 Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary. PMID:28139522 A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation. 2023-02-20T14:51:47Z Pigmentary incontinence in papillary dermis human_phenotype HP:0034572 Pigment incontinence HP:0034572 A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation. PMID:16045670 PMID:6222085 2023-02-20T15:12:14Z human_phenotype HP:0034573 Abnormal epidermal protein expression HP:0034573 Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. 2023-02-20T15:12:44Z human_phenotype HP:0034574 This feature can be assessed antibody staining of a skin biopsy specimen. Reduced epidermal keratin 10 protein expression HP:0034574 Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. PMID:21176769 2023-02-20T15:16:43Z Skin biopsy: collagen IV antibody staining abnormal or absent human_phenotype HP:0034575 Lower than normal amount of collagen IV in the epidermis. Reduced epidermal collagen IV protein expression HP:0034575 Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis. 2023-02-20T15:19:58Z Skin biopsy: BPAG1-e antibody staining abnormal or absent human_phenotype HP:0034576 Reduced epidermal bullous pemphigoid antigen 1 protein expression HP:0034576 2023-02-20T15:16:43Z 2023-02-20T15:23:48Z Skin biopsy: collagen VII antibody staining abnormal or absent human_phenotype HP:0034577 Lower than normal amount of collagen VII in the epidermis. Reduced epidermal collagen VII protein expression HP:0034577 2023-02-20T15:16:43Z 2023-02-20T15:23:48Z 2023-02-20T15:24:48Z Skin biopsy: collagen XVII antibody staining abnormal or absent human_phenotype HP:0034578 Lower than normal amount of collagen XVII in the epidermis. Reduced epidermal collagen XVII protein expression HP:0034578 2023-02-20T15:16:43Z 2023-02-20T15:23:48Z 2023-02-20T15:24:48Z 2023-02-20T15:26:01Z Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent human_phenotype HP:0034579 Lower than normal amount of integrin alpha6beta4 in the epidermis. Reduced epidermal integrin alpha6beta4 protein expression HP:0034579 2023-02-20T15:16:43Z 2023-02-20T15:23:48Z 2023-02-20T15:24:48Z 2023-02-20T15:26:01Z 2023-02-20T15:28:14Z Skin biopsy: plectin antibody staining abnormal or absent human_phenotype HP:0034580 Lower than normal amount of plectin in the epidermis. Reduced epidermal plectin protein expression HP:0034580 Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease. 2023-02-20T15:31:57Z Trypanosoma cruzi present on peripheral blood smear human_phenotype HP:0034581 Bloodstream Trypanosoma cruzi HP:0034581 Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease. PMID:26162928 A deviation from the normal distribution of cell types or their relative proportions in a lymph node. 2023-02-21T00:56:13Z human_phenotype HP:0034582 Abnormal lymph node cell composition HP:0034582 Lymph node with increased numbers of macrophages heavily laden with lipids. 2023-02-21T00:57:20Z human_phenotype HP:0034583 Lipid-laden lymph node macrophages HP:0034583 Lymph node with increased numbers of macrophages heavily laden with lipids. PMID:22488251 Structural anomal of pancreatic acinus. 2023-02-21T01:07:32Z human_phenotype HP:0034584 The exocrine pancreas is structurally analogous to a bunch of grapes; this architecture contains microscopic, blind-ended tubules that are surrounded by polygonal acinar cells and these tubules are organized into lobules called acini. The primary function of the acini is to synthesize and secrete hydrolytic enzymes which empty into the duodenum for the digestion of our daily foodstuff. Each acinus consists of a small cluster of secretory epithelial cells that form a small central lumen, called intercellular canaliculi. Each acinar cell has a round pyramid-like shape. Abnormal pancreatic acinus morphology HP:0034584 Structural anomal of pancreatic acinus. PMID:16423553 A developmental defect characterized by underdevelopment of the cochlear nerve. 2023-03-12T13:28:11Z human_phenotype HP:0034585 Cochlear nerve hypoplasia HP:0034585 A developmental defect characterized by underdevelopment of the cochlear nerve. PMID:25986071 Level of glutathione in the urine above the upper limit of normal. 2023-03-12T13:31:04Z Glutathione high in urine human_phenotype HP:0034586 Glutathionuria HP:0034586 Level of glutathione in the urine above the upper limit of normal. PMID:29483667 Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis. 2023-03-12T13:48:52Z human_phenotype HP:0034587 Nevus psiloliparus HP:0034587 Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis. PMID:32034785 Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling. 2023-03-12T13:52:40Z human_phenotype HP:0034588 Crypt hyperplasia HP:0034588 Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling. PMID:17021129 Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. 2023-03-12T13:55:39Z human_phenotype HP:0034589 Dehydroepiandrosterone (DHEA) is produced in the adrenal glands and to a lesser extent by the ovaries and testes. DHEA is metabolized into DHEA-S in the adrenal glands and liver. Dehydroepiandrosterone-sulfate is a precursor of testosterone and estrogen. Increased circulating dehydroepiandrosterone-sulfate concentration HP:0034589 Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. PMID:18252794 Any deviation from the normal concentration of thyroxine-binding globulin in the blood circulation. 2023-03-12T14:01:40Z Abnormal circulating thyroxine-binding globulin concentration Abnormal thyroxine-binding globulin level human_phenotype HP:0034590 Abnormal circulating thyroxine-binding globulin concentration HP:0034590 The concentration of thyroxine-binding globulin in the blood circulation is below the lower limit of normal. 2023-03-12T14:06:26Z HP:0012509 Decreased circulating thyroxine-binding globulin concentration Decreased thyroxine-binding globulin concentration Decreased thyroxine-binding globulin level Decreased thyroxine-binding globulin level in blood Reduced thyroxin-binding globulin Reduced thyroxine-binding globulin concentration Reduced thyroxine-binding globulin level Reduced thyroxine-binding globulin level in blood Thyroxine-binding globulin low in blood human_phenotype HP:0034591 Thyroxin-binding globulin (TBG) is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. Decreased circulating thyroxine-binding globulin concentration HP:0034591 An increased concentration of beta-aminoisobutyric acid in the blood circulation. 2023-03-12T14:17:37Z Beta-aminoisobutyric acid high in blood human_phenotype HP:0034592 Elevated circulating beta-aminoisobutyric acid concentration HP:0034592 An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil. 2023-03-12T14:21:43Z Dihydrouracil high in blood Elevated circulating 5,6-dihydrouracil concentration human_phenotype HP:0034593 Elevated circulating dihydrouracil concentration HP:0034593 An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine. 2023-03-12T14:25:03Z Dihydrothymine high in blood human_phenotype HP:0034594 Elevated circulating dihydrothymine concentration HP:0034594 An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation. 2023-03-12T14:28:42Z N-carbamoyl-beta-alanine acid high in blood human_phenotype HP:0034595 Elevated 3-ureidopropionic acid Elevated circulating N-carbamoyl-beta-alanine concentration HP:0034595 An increased concentration of 5-hydroxymethyluracil in the blood circulation. 2023-03-12T14:31:11Z 5-hydroxymethyluracil high in blood human_phenotype HP:0034596 Elevated ciculating 5-hydroxymethyluracil concentration HP:0034596 Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal. 2023-03-12T14:41:33Z human_phenotype HP:0034597 Decreased CSF creatinine concentration HP:0034597 An increased amount of creatine in the urine. 2023-03-12T14:45:24Z Creatine high in urine human_phenotype HP:0034598 Elevated urinary creatine level HP:0034598 Concentration of biotin in the blood circulation below the lower limit of normal. 2023-03-12T14:48:38Z Biotin low in blood human_phenotype HP:0034599 Decreased circulating biotin concentration HP:0034599 Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes. 2023-03-12T18:02:15Z Thrombopoietin high in blood human_phenotype HP:0034600 Elevated circulating thrombopoietin concentration HP:0034600 Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes. 2023-03-12T18:06:12Z human_phenotype HP:0034601 Decreased circulating C1q concentration HP:0034601 Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes. PMID:24160257 The concentration of apolipoprotein A-II in the blood circulation is below the lower limit of normal. 2023-03-12T18:21:11Z Apolipoprotein A-II low in blood Decreased apolipoprotein A-II concentration Decreased apolipoprotein A-II level Decreased apolipoprotein A-II level in blood Decreased circulating apolipoprotein A-II concentration Reduced apolipoprotein A-II concentration Reduced apolipoprotein A-II level Reduced apolipoprotein A-II level in blood human_phenotype HP:0034602 Decreased circulating apolipoprotein A-II concentration HP:0034602 HP:0032345 2023-03-12T18:26:26Z human_phenotype HP:0034603 obsolete Elevated circulating CA19-9 concentration true HP:0034603 Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal. 2023-03-12T18:33:02Z DOPA high in blood Elevated circulating 3,4-dihydroxyphenylalanine concentration human_phenotype HP:0034604 Elevated circulating DOPA concentration HP:0034604 Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal. 2023-03-12T18:36:08Z Elevated CSF 3,4-dihydroxyphenylalanine concentration human_phenotype HP:0034605 Elevated CSF DOPA concentration HP:0034605 The concentration of porphyrins in the blood circulation is above the upper limit of normal. 2023-03-12T18:39:52Z Elevated circulating porphyrin concentration Elevated porphyrins concentration Elevated porphyrins level Elevated porphyrins level in blood Increased porphyrins concentration Increased porphyrins level Increased porphyrins level in blood Porphyrin high in blood human_phenotype HP:0034606 Most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration. Elevated circulating porphyrin concentration HP:0034606 Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal. 2023-03-12T18:43:30Z human_phenotype HP:0034607 Decreased circulating 17-hydroxyprogesterone concentration HP:0034607 The concentration of transcobalamin-2 in the blood circulation is below the lower limit of normal. 2023-03-12T18:45:18Z Decreased circulating transcobalamin-2 concentration Decreased transcobalamin-2 concentration Decreased transcobalamin-2 level Decreased transcobalamin-2 level in blood Reduced transcobalamin-2 concentration Reduced transcobalamin-2 level Reduced transcobalamin-2 level in blood Transcobalamin II low in blood human_phenotype HP:0034608 Decreased circulating transcobalamin-2 concentration HP:0034608 Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia. 2023-03-12T18:47:17Z Polychromasia on peripheral blood smear human_phenotype HP:0034609 Polychromasia HP:0034609 Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia. PMID:83524 Concentration of myo-inositol in the blood circulation below the lower limit of normal. 2023-03-13T11:30:28Z Myoinositol low in blood human_phenotype HP:0034610 Decreased circulating myo-inositol concentration HP:0034610 Concentration of arabinitol in the blood circulation above the upper limit of normal. 2023-03-13T11:35:06Z Elevated circulating D-arabinitol concentration human_phenotype HP:0034611 Elevated circulating arabinitol concentration HP:0034611 Amount of arabitol in the urine above the upper limit of normal. 2023-03-13T11:37:24Z Arabitol high in urine human_phenotype HP:0034612 Elevated urine arabitol level HP:0034612 Amount of erythritol in the urine above the upper limit of normal. 2023-03-13T11:40:31Z Erythritol high in urine human_phenotype HP:0034613 Elevated urine erythritol level HP:0034613 Concentration of erythritol in the blood circulation above the upper limit of normal. 2023-03-13T11:41:42Z Erythritol high in blood human_phenotype HP:0034614 Elevated circulating erythritol concentration HP:0034614 The concentration of matrix metalloproteinase 2 in the blood circulation is below the lower limit of normal. 2023-03-13T11:55:19Z Decreased 72 kDa type IV collagenase concentration Decreased 72 kDa type IV collagenase level Decreased 72 kDa type IV collagenase level in blood Decreased circulating matrix metalloproteinase 2 concentration Reduced 72 kDa type IV collagenase concentration Reduced 72 kDa type IV collagenase level Reduced 72 kDa type IV collagenase level in blood human_phenotype HP:0034615 Decreased circulating matrix metalloproteinase 2 concentration HP:0034615 Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal. 2023-03-13T12:31:40Z human_phenotype HP:0034616 Abnormal circulating coenzyme concentration HP:0034616 Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation. 2023-03-13T12:35:12Z S-adenosylmethionine high in blood human_phenotype HP:0034617 Elevated circulating S-adenosyl methionine concentration HP:0034617 Any deviation from the normal concentration of membrane cofactor protein in the blood circulation. 2023-03-13T12:43:38Z Abnormal circulating membrane cofactor protein concentration Abnormal membrane cofactor protein level human_phenotype HP:0034618 Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b. Abnormal circulating membrane cofactor protein concentration HP:0034618 The concentration of membrane cofactor protein in the blood circulation is below the lower limit of normal. 2023-03-13T12:44:53Z Decreased circulating CD46 concentration Decreased circulating membrane cofactor protein concentration Decreased membrane cofactor protein concentration Decreased membrane cofactor protein level Decreased membrane cofactor protein level in blood MCP (membrane cofactor protein) low in blood Reduced membrane cofactor protein concentration Reduced membrane cofactor protein level Reduced membrane cofactor protein level in blood human_phenotype HP:0034619 Decreased circulating membrane cofactor protein concentration HP:0034619 The concentration of membrane cofactor protein in the blood circulation is above the upper limit of normal. 2023-03-13T12:45:29Z Elevated circulating CD46 concentration Elevated circulating membrane cofactor protein concentration Elevated membrane cofactor protein concentration Elevated membrane cofactor protein level Elevated membrane cofactor protein level in blood Increased membrane cofactor protein concentration Increased membrane cofactor protein level Increased membrane cofactor protein level in blood human_phenotype HP:0034620 Elevated circulating membrane cofactor protein concentration HP:0034620 Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T12:47:40Z Hepatic xanthomas human_phenotype HP:0034621 Hepatic xanthomatosis HP:0034621 Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T12:51:54Z Adrenal xanthomas human_phenotype HP:0034622 Adrenal xanthomatosis HP:0034622 Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T12:53:29Z Spleen xanthomas human_phenotype HP:0034623 Splenic xanthomatosis HP:0034623 Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T12:58:39Z Spinal cord xanthomas human_phenotype HP:0034624 Spinal cord xanthomatosis HP:0034624 Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T13:00:53Z Brain xanthomas Brain xanthomata human_phenotype HP:0034625 Brain xanthomatosis HP:0034625 Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T13:02:54Z Lung xanthoma Pulmonary xanthoma human_phenotype HP:0034626 Pulmonary xanthomatosis HP:0034626 Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T13:05:46Z Bone marrow xanthomas human_phenotype HP:0034627 Bone marrow xanthomatosis HP:0034627 Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. 2023-03-19T13:07:16Z Lymph node xanthomas human_phenotype HP:0034628 Lymph node xanthomatosis HP:0034628 Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. PMID:32965912 Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells. 2023-03-19T13:09:20Z Bone xanthoma human_phenotype HP:0034629 Because of the aggressive radiographic appearance of bone xanthoma, other primary bone tumors and metastatic lesions need to be ruled out. Xanthoma of bone HP:0034629 Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells. PMID:19223950 Applies to a sign or symptom that is improved or made more bearable by treatment with folinic acid. 2023-03-19T13:16:40Z Ameliorated by leucovorin human_phenotype HP:0034630 Ameliorated by folinic acid HP:0034630 Applies to a sign or symptom that is provoked or brought about by exposure to a succinylcholine anesthetic such as suxamethonium. 2023-03-19T13:19:53Z Triggered by suxamethonium human_phenotype HP:0034631 Triggered by succinylcholine anesthetic HP:0034631 History of having been treated with an exogenous androgen medication. 2023-03-19T13:22:04Z Androgen exposure, exogenous human_phenotype HP:0034632 Exogenous androgen exposure HP:0034632 Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene. 2023-03-19T13:25:06Z Muscle biopsy: beta-enolase activity low human_phenotype HP:0034633 Reduced muscle enolase activity HP:0034633 Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene. PMID:11506403 History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine. 2023-03-19T13:29:12Z Dopamine antagonist treatment history human_phenotype HP:0034634 Dopamine antagonist exposure HP:0034634 The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments. 2023-03-19T14:14:28Z human_phenotype HP:0034635 See Figure 7B of PMID:19181099. Muscle fiber granulofilamentous inclusion bodies HP:0034635 The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments. PMID:19181099 Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow. 2023-03-19T14:18:37Z Bone marrow: myeloid vacuolization Vacuolization of bone marrow myeloid precursors human_phenotype HP:0034636 See Figure 1 of PMID:33690844. Bone marrow myeloid vacuolization HP:0034636 Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow. PMID:33690844 A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm. 2023-03-19T14:23:08Z human_phenotype HP:0034637 See Figure 1 of PMID:29569226. Pulmonary cylindroma HP:0034637 A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm. PMID:29569226 PMID:32298062 Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris. 2023-03-19T14:31:34Z human_phenotype HP:0034638 Colonic fibrinopurulent exudate HP:0034638 Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases. 2023-03-19T14:37:40Z human_phenotype HP:0034639 Filariasis is an infectious parasitic disease caused by roundworms that belong to the family Filarioidea. These are spread by bloodfeeding insects such as black flies and mosquitoes. Eight known filarial nematodes use humans as their definitive hosts. See Figure 1 of PMID:32313484. Bloodstream microfilaria HP:0034639 Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases. PMID:32313484 The presence of an infectious agent in the skin. 2023-03-19T15:02:21Z human_phenotype HP:0034640 Skin infectious agent HP:0034640 Presence of filariae in the skin. 2023-03-19T15:03:05Z Dermal microfilariae human_phenotype HP:0034641 Dermal microfilaria HP:0034641 Presence of filariae in the skin. PMID:31340993 Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle. 2023-03-19T15:12:22Z Granular IgA deposits at the dermal papillae human_phenotype HP:0034642 Dermal papillary IgA deposition HP:0034642 Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle. PMID:33426564 Accumulation of antigen-bound antibody in the skin. 2023-03-19T15:26:59Z human_phenotype HP:0034643 Dermal immune complex deposition HP:0034643 The concentration of a metabolite in the liver is above or below the limits of normal. 2023-03-19T15:38:07Z human_phenotype HP:0034644 Abnormal liver metabolite concentration HP:0034644 Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver. 2023-03-19T15:40:13Z Accumulation of polyglucosan bodies in the liver human_phenotype HP:0034645 Hepatic polyglucosan accumulation HP:0034645 A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder. 2023-03-19T15:47:51Z Bladder neurofibroma human_phenotype HP:0034646 Urinary bladder neurofibroma HP:0034646 An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium). 2023-03-19T15:52:28Z human_phenotype HP:0034647 Synovial granuloma HP:0034647 The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-03-21T11:43:28Z Elevated urine fumarate level human_phenotype HP:0034648 Elevated urine fumaric acid level HP:0034648 The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry. 2023-03-21T11:50:13Z HP:0032272 Elevated urinary N-acetylaspartic acid level N-acetylaspartate high in urine human_phenotype HP:0034649 Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals. Elevated urine N-acetylaspartic acid level HP:0034649 The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry. PMID:8412017 Level of suberylglycine in urine above upper limit of normal. 2023-03-21T12:00:18Z Suberylglycine high in urine human_phenotype HP:0034650 Elevated urine suberylglycine level HP:0034650 Level of phenylpropionylglycine in urine above upper limit of normal. 2023-03-21T12:01:43Z Phenylpropionylglycine present in urine human_phenotype HP:0034651 Elevated urine phenylpropionylglycine level HP:0034651 The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-03-21T12:05:12Z Octenedioic acid high in urine human_phenotype HP:0034652 Elevated urine octenedioic acid level HP:0034652 Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group. 2023-03-21T12:09:50Z human_phenotype HP:0034653 Monocarboxylic aciduria HP:0034653 Amount of octanoic acid in the urine above the upper limit of normal. 2023-03-21T12:11:31Z human_phenotype HP:0034654 Elevated urine octanoic acid level HP:0034654 The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-03-21T12:13:21Z human_phenotype HP:0034655 Elevated urine glutaconic acid level HP:0034655 The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-03-21T12:14:42Z 3-hydroxyglutaric acid high in urine human_phenotype HP:0034656 Elevated urine 3-hydroxyglutaric level HP:0034656 The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-03-21T12:16:21Z Malonic acid present in urine human_phenotype HP:0034657 Elevated urine malonic acid level HP:0034657 Amount of propionylglycine in the urine above the upper limit of normal. 2023-03-21T12:20:10Z human_phenotype HP:0034658 Elevated urine propionylglycine level HP:0034658 Amount of tiglylglycine in the urine above upper limit of normal. 2023-03-21T12:21:24Z human_phenotype HP:0034659 Elevated urine tiglylglycine level HP:0034659 Amount of 2-methylacetoacetic acid in the urine above upper limit of normal. 2023-03-21T12:23:05Z 2-methylacetoacetic acid present in urine human_phenotype HP:0034660 Elevated urine 2-methylacetoacetic acid level HP:0034660 Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal. 2023-03-21T12:24:53Z 3-hydroxypropionic acid high in urine human_phenotype HP:0034661 Elevated urine 3-hydroxypropionic acid level HP:0034661 Amount of 2-methylcitric acid in the urine above the upper limit of normal. 2023-03-21T12:26:30Z 2-methylcitric acid high in urine Elevated urine 2-methylcitrate level human_phenotype HP:0034662 Elevated urine 2-methylcitric acid level HP:0034662 Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal. 2023-03-21T12:28:04Z 4-hydroxyisovaleric acid present in urine human_phenotype HP:0034663 Elevated urine 4-hydroxyisovaleric acid level HP:0034663 Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism. 2023-03-21T12:33:42Z 2-hydroxy-3-methylvaleric acid high in urine human_phenotype HP:0034664 2-hydroxy-3-methylvaleric acid is elevated in individuals with mapel syrup urine disease. Elevated urine 2-hydroxy-3-methylvaleric acid level HP:0034664 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. 2023-03-25T12:27:46Z human_phenotype HP:0034665 Shoulder contracture HP:0034665 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. PMID:16214063 PMID:24975760 PMID:31282072 Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully). 2023-03-25T12:35:09Z human_phenotype HP:0034666 Shoulder extension contracture HP:0034666 Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully). PMID:31282072 Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position. 2023-03-25T13:02:27Z human_phenotype HP:0034667 Thumb extension contracture HP:0034667 A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue. 2023-03-25T13:10:59Z human_phenotype HP:0034668 Tongue myxoma HP:0034668 A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue. PMID:36276237 A structural abnormality of the knee joint or surrounding structures. 2023-03-25T13:22:12Z HP:0041064 human_phenotype HP:0034669 Abnormal knee morphology HP:0034669 A functional anomaly of the knee joint. 2023-03-25T13:23:25Z human_phenotype HP:0034670 Abnormal knee physiology HP:0034670 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. 2023-03-25T13:24:29Z Contracture of knee Contracture of the knees Knee contractures human_phenotype HP:0034671 Knee contracture HP:0034671 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. PMID:16214063 PMID:24975760 PMID:31282072 Knee contractures A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together. 2023-03-25T13:25:31Z human_phenotype HP:0034672 Knee extension contracture HP:0034672 A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together. PMID:31282072 A structural anomaly of the ankle. 2023-03-25T13:30:08Z human_phenotype HP:0034673 Abnormal ankle morphology HP:0034673 A functional anomaly of the ankle. 2023-03-25T13:31:03Z human_phenotype HP:0034674 Abnormal ankle physiology HP:0034674 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. 2023-03-26T15:48:09Z human_phenotype HP:0034675 Toe joint contracture HP:0034675 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. PMID:16214063 PMID:24975760 PMID:31282072 A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together. 2023-03-26T15:49:58Z human_phenotype HP:0034676 Extension contracture of toe HP:0034676 A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together. PMID:31282072 2023-03-26T15:52:39Z human_phenotype HP:0034677 Ankle contracture HP:0034677 2023-03-26T15:53:22Z human_phenotype HP:0034678 Forefoot pronation contracture HP:0034678 2023-03-26T15:53:36Z human_phenotype HP:0034679 Forefoot supination contracture HP:0034679 2023-03-26T15:53:50Z human_phenotype HP:0034680 Forefoot adduction contracture HP:0034680 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. 2023-03-26T16:07:41Z human_phenotype HP:0034681 Finger joint contracture HP:0034681 Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. PMID:16214063 PMID:24975760 PMID:31282072 A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together. 2023-03-26T16:10:27Z human_phenotype HP:0034682 Extension contracture of finger HP:0034682 A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together. PMID:31282072 Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. 2023-03-26T16:23:29Z Muscle biopsy: telethonin low or absent human_phenotype HP:0034683 Reduced muscle telethonin level HP:0034683 Concentration or activity of an enzyme is above or below the limits of normal. 2023-03-26T18:12:26Z human_phenotype HP:0034684 Abnormal enzyme concentration or activity HP:0034684 Concentration or activity of an enzyme is above or below the limits of normal in liver tissue. 2023-03-26T18:13:11Z Abnormal hepatic enzyme activity or concentration human_phenotype HP:0034685 Abnormal liver enzyme activity or concentration HP:0034685 Activity of urocanase in the liver below the lower limit of normal. 2023-03-26T18:13:49Z Liver biopsy: urocanase activity low human_phenotype HP:0034686 Reduced hepatic urocanase activity HP:0034686 Activity of urocanase in the liver below the lower limit of normal. PMID:19304569 Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate. 2023-03-26T18:17:47Z human_phenotype HP:0034687 This feature can be assayed by cerebroside sulfate loading tests of cultured dermal fibroblasts. Impaired cerebroside sulfate hydrolysis HP:0034687 Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate. PMID:6137805 Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA. 2023-03-26T18:20:50Z human_phenotype HP:0034688 Reduced peroxisomal glutaryl-CoA oxidase activity HP:0034688 Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA. PMID:6547838 Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids. 2023-03-26T18:22:45Z human_phenotype HP:0034689 Reduced sterol 27-hydroxylase activity HP:0034689 Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids. PMID:10856919 Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids. 2023-03-26T18:24:12Z human_phenotype HP:0034690 Reduced short-chain acyl-CoA dehydrogenase activity HP:0034690 Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids. PMID:26989860 Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+. 2023-03-26T18:26:18Z human_phenotype HP:0034691 Reduced 3-phosphoglycerate dehydrogenase activity HP:0034691 Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+. PMID:30619878 Increase in length of mitochondria. 2023-03-26T18:27:07Z human_phenotype HP:0034692 Mitochondrial elongation can be initiated by a gradual merge of the outer mitochondrial membranes of two individual mitochondria. Elongated mitochondria HP:0034692 Increase in length of mitochondria. PMID:33262702 Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes. 2023-04-09T17:13:12Z human_phenotype HP:0034693 Reduced hepatic methionine adenosyltransferase activity HP:0034693 Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes. PMID:20675163 Degeneration and loss of neurons in the substantia nigra of the brain. 2023-04-09T17:19:52Z human_phenotype Melanin reduced in substantia nigra HP:0034694 Ppigmented neurons in the substantia nigra produce the neurotransmitter dopamine. The loss of these neurons leads to the classical motor symptoms of Parkinson disease. The pigment contained within these neurons, termed neuromelanin because of its similar appearance to cutaneous melanin, is so abundant in the substantia nigra of the human brain that this structure can be seen macroscopically as a darkened area (hence the origin of the name given to this brain region) Substantia nigra dopaminergic neuron loss HP:0034694 Degeneration and loss of neurons in the substantia nigra of the brain. PMID:30028088 PMID:31251435 A lipoma that is located within a muscle. 2023-04-15T11:17:28Z human_phenotype HP:0034696 Intramuscular lipoma HP:0034696 Dilated blood vessels on the skin. 2023-04-15T11:19:45Z human_phenotype HP:0034697 Cutaneous telangiectasia HP:0034697 Aromatase activity outside of the normal range. 2023-04-15T11:23:04Z human_phenotype HP:0034698 Aromatase is a specific component of the cytochrome P450 enzyme system responsible for the transformation of androgen precursors into estrogens. This enzyme is encoded by the CYP19A1 gene located at chromosome 15q21.2, that is, expressed in ovary and testis, but also in many extraglandular sites such as the placenta, brain, adipose tissue, and bone. Abnormal aromatase activity HP:0034698 Aromatase is a specific component of the cytochrome P450 enzyme system responsible for the transformation of androgen precursors into estrogens. This enzyme is encoded by the CYP19A1 gene located at chromosome 15q21.2, that is, expressed in ovary and testis, but also in many extraglandular sites such as the placenta, brain, adipose tissue, and bone. PMID:21772971 Enzyme activity of aromatase above the upper limit of normal. 2023-04-15T11:47:39Z human_phenotype HP:0034699 Elevated aromatase activity HP:0034699 Enzyme activity of aromatase below the lower limit of normal. 2023-04-15T11:49:00Z human_phenotype HP:0034700 Reduced aromatase activity HP:0034700 A form of amyloidosis that is located in the cornea. 2023-04-15T11:50:40Z human_phenotype HP:0034701 Corneal amyloidosis HP:0034701 Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier. 2023-04-15T12:02:18Z human_phenotype HP:0034702 Abnormal keratinocyte morphology HP:0034702 Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier. PMID:9114819 Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes. 2023-04-15T12:09:36Z Keratinocyte vacuolation Vacuolated keratinocytes human_phenotype HP:0034703 Keratinocyte vacuolization HP:0034703 An adenocarcinoma that arises from the parotid gland. 2023-04-15T12:19:44Z human_phenotype HP:0034704 Parotid gland adenocarcinoma HP:0034704 Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung. 2023-04-15T12:25:26Z Lung biopsy: vasculitis human_phenotype HP:0034705 Pulmonary vasculitis HP:0034705 Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung. PMID:16493151 Activity of D-glycerate kinase in the liver below the lower limit of normal. 2023-04-15T12:30:23Z human_phenotype HP:0034706 Reduced hepatic D-glycerate kinase activity HP:0034706 Activity of D-glycerate kinase in the liver below the lower limit of normal. PMID:2537226 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node. 2023-04-15T19:21:13Z human_phenotype HP:0034707 See Figure 1 of PMID:16859547. Lymph-node hemophagocytosis HP:0034707 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node. PMID:16859547 Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus). 2023-04-16T12:07:28Z human_phenotype HP:0034708 Superior pubic ramus hypoplasia HP:0034708 Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus). PMID:19104687 A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components. 2023-04-16T12:10:49Z human_phenotype HP:0034709 Uterine adenofibroma HP:0034709 A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture. 2023-04-16T12:16:47Z human_phenotype HP:0034710 Pulmonary hamartoma HP:0034710 A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture. PMID:30969628 An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter). 2023-04-16T15:04:45Z human_phenotype HP:0034711 In giant axonal neuropathy, distended axons are observed in conjunction with thin myelin sheaths. Distended axons may be filled with masses of neurofilaments. See Figures 4 and 5 of PMID:15897506. Peripheral axonal distension HP:0034711 An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter). PMID:15897506 Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation. 2023-04-16T15:07:35Z human_phenotype HP:0034712 Decreased circulating alpha-mannosidase activity HP:0034712 A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue. 2023-04-16T15:10:56Z human_phenotype HP:0034713 Abnormal hepatocyte morphology HP:0034713 Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes. 2023-04-16T15:13:52Z human_phenotype HP:0034714 Hepatic melanin-like lysosomal pigmentation HP:0034714 Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal. 2023-04-16T15:15:27Z human_phenotype HP:0034715 Uroporphyrinogen decarboxylase low Reduced uroporphyrinogen decarboxylase activity HP:0034715 Activity of the enzyme heme oxygenase below the lower limit of normal. 2023-04-16T15:20:27Z human_phenotype HP:0034716 Reduced heme oxygenase activity HP:0034716 The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain. 2023-04-16T15:22:22Z Cerebral cortex Pick cells Cerebral cortex swollen achromatic neurons human_phenotype HP:0034717 Swollen achromatic neurons in the cerebral cortex HP:0034717 The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain. PMID:8171960 Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles. 2023-04-16T15:29:56Z Hepatocyte vacuolization human_phenotype HP:0034718 Vacuolated hepatocytes HP:0034718 An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination. 2023-04-16T15:46:57Z human_phenotype HP:0034719 Lack of oocyte pronucleus formation HP:0034719 An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination. PMID:34552114 A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars. 2023-04-16T15:54:20Z human_phenotype HP:0034720 Individuals with pathogenic variants in TGFBR1 may present with multiple self-healing squamous epitheliomas. See Figure 1 of PMID:33256177. Self-healing squamous epithelioma HP:0034720 A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars. PMID:33256177 Concentration of pristanic acid in the blood circulation above the upper limit of normal. 2023-04-21T20:13:04Z human_phenotype HP:0034721 Elevated circulating pristanic acid concentration HP:0034721 Concentration of pristanic acid in the blood circulation above the upper limit of normal. PMID:16685654 Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain. 2023-04-21T20:15:13Z human_phenotype HP:0034722 The sarcoplasm is the cytoplasm of a muscle cell. Sarcoplasmic bodies HP:0034722 2023-04-21T20:52:44Z human_phenotype HP:0034723 Concentration of hydroxyproline in the cerebrospinal fluid (CSF) above the upper limit of normal. Elevated CSF hydroxyproline concentration HP:0034723 Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond. 2023-04-21T21:24:47Z Cystine low in CSF human_phenotype HP:0034724 Reduced CSF cystine concentration HP:0034724 Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides. 2023-04-21T21:27:53Z human_phenotype HP:0034725 Abnormal circulating beta-mannosidase activity HP:0034725 Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides. 2023-04-21T21:28:41Z Beta-mannosidase high in blood human_phenotype HP:0034726 Elevated circulating beta-mannosidase activity HP:0034726 Activity of the enzyme alpha-L-fucosidase below the lower limit of normal. 2023-04-21T21:43:47Z human_phenotype HP:0034727 Reduced circulating alpha-L-fucosidase activity HP:0034727 Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal. 2023-04-21T21:45:59Z human_phenotype HP:0034728 Abnormal circulating alpha-L-fucosidase activity HP:0034728 Activity of the enzyme alpha-L-fucosidase above the upper limit of normal. 2023-04-21T21:46:14Z human_phenotype HP:0034729 Elevated circulating alpha-L-fucosidase activity HP:0034729 Increased concentration of S-adenosyl-L-homocysteine in the blood circulation. 2023-04-21T21:49:05Z Elevated AdoHcy concentration human_phenotype HP:0034730 Elevated circulating S-adenosyl-L-homocysteine concentration HP:0034730 Increased concentration of S-adenosyl-L-homocysteine in the blood circulation. PMID:21963049 Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal. 2023-04-21T21:50:51Z High blood AdoMet human_phenotype HP:0034731 Elevated circulating S-adenosyl-L-methionine concentration HP:0034731 Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. 2023-05-07T17:32:38Z Exertional heat stroke Malignant hyperthermia due to exercise human_phenotype HP:0034732 Exercise-triggered malignant hyperthermia HP:0034732 Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. 2023-05-07T17:34:30Z Malignant hyperthermia with anaesthesia Malignant hyperthermia with anesthesia human_phenotype HP:0034733 Anesthesic-triggered malignant hyperthermia HP:0034733 Malignant hyperthermia with anaesthesia Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal. 2023-05-07T17:46:17Z Argininosuccinic acid high in CSF human_phenotype HP:0034734 Elevated CSF argininosuccinic acid concentration HP:0034734 Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal. 2023-05-07T17:47:59Z Aspartylglucosamine high in CSF human_phenotype HP:0034735 Aspartylglucosamine is a derivative of aspartic acid. Elevated CSF aspartylglucosamine concentration HP:0034735 Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal. 2023-05-07T17:53:27Z Alpha-oxoadipic acid high in blood human_phenotype HP:0034736 Elevated circulating alpha-oxoadipic acid concentration HP:0034736 A deviation from the normal range of a metabolite in red blood cells. 2023-05-07T17:56:06Z human_phenotype HP:0034737 Abnormal erythrocyte metabolite concentration HP:0034737 Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health. 2023-05-07T17:56:42Z human_phenotype HP:0034738 Reduced erythrocyte glutathione concentration HP:0034738 Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health. PMID:23938402 Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal. 2023-05-07T18:00:21Z Sarcosine high in CSF human_phenotype HP:0034739 Elevated CSF sarcosine concentration HP:0034739 Concentration of methionine in the cerebrospinal fluid below the lower limit of normal. 2023-05-07T18:01:54Z Methionine low in CSF human_phenotype HP:0034740 Reduced CSF methionine concentration HP:0034740 Concentration of homoarginine in the blood circulation above the upper limit of normal. 2023-05-07T18:04:55Z Homoarginine high in blood human_phenotype HP:0034741 Elevated circulating homoarginine concentration HP:0034741 The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-05-07T18:10:55Z Formiminoglutamic acid high in urine human_phenotype HP:0034742 Elevated urinary formiminoglutamic acid level HP:0034742 Concentration of proline in the cerebrospinal fluid (CSF) above the upper limit of normal. 2023-05-07T18:14:20Z human_phenotype HP:0034743 Elevated CSF proline concentration HP:0034743 Level of S-sulfocysteine high in urine above the upper limit of normal. 2023-05-07T18:21:28Z S-sulfocysteine high in urine human_phenotype HP:0034744 Elevated urinary S-sulfocysteine level HP:0034744 Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal. 2023-05-07T18:24:17Z S-sulfocysteine high in blood human_phenotype HP:0034745 Elevated circulating S-sulfocysteine concentration HP:0034745 Abnormal increase in the number of Sertoli cells in the testis. 2023-05-17T23:10:37Z human_phenotype HP:0034746 Sertoli cells are present in the seminiferous tubules of the testes, comprising one of the two types of cells in the germinal epithelium, the other being of spermatogonia lineage. Sertoli cells are one of the most important cells necessary for sperm production in males. They are often identifiable as big, tightly linked cells near the basolateral portion of the seminiferous tubule. Sertoli cell hyperplasia HP:0034746 Abnormal increase in the number of Sertoli cells in the testis. PMID:32809466 The presence of an infectious agent in the cerebrospinal fluid (CSF). 2023-05-18T11:58:43Z human_phenotype HP:0034747 CSF infectious agent HP:0034747 Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy. 2023-05-18T11:59:37Z human_phenotype HP:0034748 CSF mycobacteria HP:0034748 Detection of a fungal organism (such as candida or coccidioides) in the blood stream. 2023-05-18T12:01:29Z Fungaemia Fungal bloodstream infection Fungi in blood Presence of fungi in the blood human_phenotype HP:0034749 Fungemia HP:0034749 Enlarged lymph node located just above the clavicle (collarbone). 2023-05-18T12:12:04Z human_phenotype HP:0034750 Supraclavicular lymphadenopathy HP:0034750 Enlarged lymph node located in the inguinal region (groin). 2023-05-18T12:15:08Z human_phenotype HP:0034751 Inguinal lymphadenopathy HP:0034751 Enlarged lymph node located in the axillary region (armpit). 2023-05-18T12:17:01Z human_phenotype HP:0034752 Axillary lymphadenopathy HP:0034752 Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited. 2023-05-18T12:25:25Z Murphy's sign Murphy's sign positive Sweeney's sign human_phenotype HP:0034753 Positive Murphy sign HP:0034753 Vomiting whereby the vomit has the color of bile, yellowish-green. 2023-05-18T12:27:47Z human_phenotype HP:0034754 Bilious emesis HP:0034754 Applies to a sign or symptom that is improved or made more bearable by treatment with a nonsteroidal anti-inflammatory drug (NSAID). 2023-05-20T14:16:25Z Ameliorated by nonsteroidal anti-inflammatory drug human_phenotype HP:0034755 Ameliorated by NSAID HP:0034755 A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance. 2023-05-20T14:24:13Z Fetal medication or drug exposure Foetal medication or drug exposure Maternal exposure history human_phenotype HP:0034756 Fetal exposure history HP:0034756 Foetal medication or drug exposure A history of exposure during pregnancy of the mother of a fetus or child to barbiturate medications such as phenobarbital. Barbiturates are used medically as anxiolytics, hypnotics, and anticonvulsants. 2023-05-20T14:25:18Z Maternal barbiturate use human_phenotype HP:0034757 Fetal barbiturate exposure HP:0034757 A history of exposure during pregnancy of the mother of a fetus or child to narcotic medications such as morphine or codeine. Narcotics are used medically to treat moderate or severe pain. 2023-05-20T14:27:58Z Maternal narcotic exposure human_phenotype HP:0034758 Fetal narcotic exposure HP:0034758 Applies to a sign or symptom that is improved or made more bearable by administration of ethosuximide. Ethosuximide is most often used to treat absence seizures. 2023-05-20T14:30:52Z human_phenotype HP:0034759 Ameliorated by ethosuximide HP:0034759 Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis. 2023-05-20T14:39:18Z Reduced epidermal ECM1 protein expression human_phenotype HP:0034760 Reduced epidermal extracellular matrix protein 1 protein expression HP:0034760 Neurofibroma categorized according to the anatomical site of origin. 2023-05-20T14:57:12Z human_phenotype HP:0034761 Neurofibroma by anatomical location HP:0034761 A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue. 2023-05-20T14:58:15Z human_phenotype HP:0034762 Tongue neurofibroma HP:0034762 A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart. 2023-05-20T14:59:21Z human_phenotype HP:0034763 Cardiac neurofibroma HP:0034763 A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach. 2023-05-20T15:00:10Z human_phenotype HP:0034764 Gastric neurofibroma HP:0034764 A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney. 2023-05-20T15:01:04Z human_phenotype HP:0034765 Renal neurofibroma HP:0034765 Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers. 2023-05-20T15:11:40Z Muscle biopsy: polyglucosan accumulation human_phenotype HP:0034766 Muscle fiber polyglucosan inclusion bodies HP:0034766 Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers. PMID:26652229 Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae. 2023-05-20T15:16:27Z human_phenotype HP:0034767 Abnormal rete ridge morphology HP:0034767 Increased length of the rete rdiges of the epidermis. 2023-05-20T15:18:23Z Elongation of rete ridges Rete ridges elongated human_phenotype HP:0034768 Rete ridge elongation HP:0034768 Accumulation of monoclonal CD1a-positive Langerhans cells in the bronchioles and alveolar interstitium that can cause damage to the lungs. 2023-05-20T15:32:35Z human_phenotype HP:0034769 Pulmonary Langerhans cell histiocytosis HP:0034769 Flattening of a curve in the spine in the lumbar (lower back) region. 2023-06-04T11:01:55Z Reduced lumbar lordosis human_phenotype HP:0034770 Lumbar hypolordosis HP:0034770 Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid. 2023-06-04T11:17:18Z Battle sign bruise Battle's sign human_phenotype HP:0034771 Battle sign HP:0034771 Reduced anterioposterior dimension of the skull base. 2023-06-04T11:21:08Z Decreased cranial base length Short skull base human_phenotype HP:0034772 Decreased skull base length HP:0034772 Reduced anterioposterior dimension of the skull base. PMID:8989469 A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate). 2023-06-04T11:24:09Z human_phenotype HP:0034773 Oscillopsia most often results from abnormal eye movements or from impaired vestibulo-ocular reflex. Oscillopsia HP:0034773 A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate). PMID:21102332 The frequency with which the eye is blinked is below the lower limit of normal. 2023-06-04T11:27:05Z Blinking reduced human_phenotype HP:0034774 A reduced blink rate may be observed in Parkinson's disease. Decreased blink rate HP:0034774 The frequency with which the eye is blinked is below the lower limit of normal. PMID:2265915 A deviation from the normal frequency of blinking the eye. 2023-06-04T11:27:28Z human_phenotype HP:0034775 Abnormal blink rate HP:0034775 A deviation from the normal frequency of blinking the eye. PMID:2265915 The frequecy with which the eye is blinked is above the upper limit of normal. 2023-06-04T11:28:47Z human_phenotype HP:0034776 An increased blink rate in can be observed in schizophrenia, tardive dyskinesia, Tourette's syndrome and Meige's disease. Elevated blink rate HP:0034776 The frequecy with which the eye is blinked is above the upper limit of normal. PMID:2265915 Sputum contains pus. 2023-06-04T11:31:58Z human_phenotype HP:0034777 Purulent sputum HP:0034777 The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy. 2023-06-04T11:35:32Z human_phenotype HP:0034778 Maternal hyperthyroidism HP:0034778 Applies to an abnormality that affects the perineum (the region of skin between the genitals and the anus). 2023-06-04T11:37:49Z Perineal distribution to finding Perineal location human_phenotype HP:0034779 Perineal HP:0034779 History of exposure to gadolinium, a contrast medium often used for magnetic resonance imaging. 2023-06-04T11:40:00Z human_phenotype HP:0034780 Gadolinium exposure HP:0034780 Excretion of pus (purulent discharge) from the opening of the parotid duct. 2023-06-04T11:43:48Z HP:6000178 Purulent Stensen duct drainage Purulent drainage from Stensen duct human_phenotype HP:0034781 See Figure 2 of PMID:34952006. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth. Purulent parotid gland drainage HP:0034781 Excretion of pus (purulent discharge) from the opening of the parotid duct. PMID:34952006 Obstipation is the inability to pass either stool or flatus (gas). 2023-06-12T12:48:58Z Lack of flatulence No gas passage human_phenotype Tympanic distended abdomen HP:0034782 Obstipation can be a sign of an acute obstruction of the GI tract, either of the small or large bowel. Obstipation HP:0034782 Vomiting following a coughing spell. 2023-06-12T12:55:05Z human_phenotype HP:0034783 Individuals with gastroesophageal reflux disease (GERD) will frequently vomit when coughing for a non-GI reason. Vomiting occurs during these coughing spells because the intrabdominal pressure is high from the coughing and the propensity to reflux results in stomach contents emerging as vomit. This is a historical question that allows a parent to impart information suggesting GERD at an age when it is difficult to obtain a reliable GERD history from the child. Posttussive emesis HP:0034783 Vasculitis categorized according to the anatomical site where the finding is localized. 2023-06-12T12:58:15Z human_phenotype HP:0034784 Vasculitis by anatomical site HP:0034784 Vasculitis categorized according to type of histological abnormality. 2023-06-12T12:59:31Z human_phenotype HP:0034785 Vasculitis by histology HP:0034785 A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls. 2023-06-12T13:00:23Z human_phenotype HP:0034786 Leukocytoclastic vasculitis HP:0034786 2023-06-12T13:14:15Z human_phenotype HP:0034787 The finding can be observed by strong brown cytoplasmic peroxidase staining of enterozytes in a biopsy specimen. See Figure 2 of PMID: 2426307. Accumulation of lipid droplets in small-bowel enterocytes HP:0034787 A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds. 2023-06-12T13:19:02Z Cardiac rub human_phenotype HP:0034788 Pericardial friction rubs can be differentiated from pleural friction rubs because they occur independently of breathing. A pericardial rub is highly specific for acute pericarditis. It is generally heard over the left sternal border, it is often louder at inspiration but sometimes can be better heard on forced expiration while the patient bends forward. In most cases, the rub is triphasic (audible in atrial, ventricular systole, and ventricular diastole phases) and is of high frequency. Pericardial friction rub HP:0034788 A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds. PMID:31194424 2023-06-12T13:30:38Z Skeletal muscle vasculitis human_phenotype HP:0034789 Muscular vasculitis HP:0034789 Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue. 2023-06-12T13:36:22Z human_phenotype HP:0034790 Succinate dehydrogenase (SDH) is a mitochondrial enzyme complex located in the inner mitochondrial membrane that has dual roles in the oxidation of succinate to fumarate in the Krebs cycle and in electron transport during oxidative phosphorylation. Abnormal muscle succinate dehydrogenase staining HP:0034790 Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue. PMID:27556822 2023-06-12T13:39:03Z human_phenotype HP:0034791 Staining of succinate dehydrogenase in skeletal muscle tissue above the upper limit of normal. Increased muscle succinate dehydrogenase staining HP:0034791 2023-06-12T13:40:21Z human_phenotype HP:0034792 Staining of succinate dehydrogenase in skeletal muscle tissue below the lower limit of normal. Decreased muscle succinate dehydrogenase staining HP:0034792 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine. 2023-06-12T13:42:19Z human_phenotype HP:0034793 Small intestinal hamartoma HP:0034793 Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece. 2023-06-18T23:46:27Z Pyriform head human_phenotype HP:0034794 Pyriform sperm head HP:0034794 Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece. PMID:21076438 https://orcid.org/0000-0002-7651-2403 Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears. 2023-06-18T23:49:33Z human_phenotype HP:0034795 Excess residual spermatozoal cytoplasm HP:0034795 Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears. ISBN:9789240030787 Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes. 2023-06-18T23:59:28Z human_phenotype HP:0034796 Cardiomyocyte hyaline bodies HP:0034796 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver. 2023-06-19T00:22:17Z human_phenotype HP:0034797 Hepatic hemophagocytosis HP:0034797 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF). 2023-06-19T00:23:27Z Hemophagocytosis in CSF human_phenotype HP:0034798 CSF hemophagocytosis HP:0034798 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen. 2023-06-19T00:24:42Z Spleen hemophagocytosis human_phenotype HP:0034799 Splenic hemophagocytosis HP:0034799 The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. 2023-06-19T00:26:38Z Urinary bladder granulomas human_phenotype HP:0034800 Urinary bladder granulomatosis HP:0034800 Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis). 2023-06-19T00:29:36Z human_phenotype HP:0034801 Epidermal necrosis HP:0034801 Applied to a sign or symptom that is aggravated by (or made more painful by) bending of a limb or joint. 2023-07-01T10:08:51Z human_phenotype HP:0034802 Exacerbated by flexion HP:0034802 The presence of blood in tears. 2023-07-01T10:11:21Z Bloody epiphora Bloody tears Red tears human_phenotype HP:0034803 Hemolacria HP:0034803 The presence of blood in tears. PMID:30969596 Bloody tears Red tears A perception that an object is in contact with the eye. 2023-07-01T11:00:20Z Conjunctival foreign body sensation Foreign body sensation in the eye human_phenotype HP:0034804 Corneal foreign body sensation HP:0034804 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk). 2023-07-01T11:04:00Z human_phenotype HP:0034805 Buttock pain HP:0034805 A perception that an object located in the vagina. 2023-07-01T11:06:27Z human_phenotype HP:0034806 Vaginal foreign body sensation HP:0034806 A perception that an object located in the vagina. PMID:17828787 Attacks of breathlessness that occur at night and may awaken the sleeping patient. 2023-07-01T11:11:31Z Paroxysmal nocturnal dyspnea human_phenotype HP:0034807 Paroxysmal nocturnal dyspnea HP:0034807 Attacks of breathlessness that occur at night and may awaken the sleeping patient. PMID:26933707 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid. 2023-07-01T11:16:00Z human_phenotype HP:0034808 Eyelid pain HP:0034808 Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition. 2023-07-01T11:30:00Z human_phenotype HP:0034809 Abnormal sperm physiology HP:0034809 Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head. 2023-07-01T11:43:00Z human_phenotype HP:0034810 Small acrosomal area HP:0034810 Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head. PMID:31939391 The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits. 2023-07-01T11:53:45Z human_phenotype HP:0034811 Bent sperm flagella HP:0034811 The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits. PMID:20111080 Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium. 2023-07-01T12:16:07Z human_phenotype HP:0034812 It is important to note that multiple spermatogenic abnormalities often occur simultaneously in infertile men, and the helical nature of human spermatogenesis can make it difficult to readily discriminate multiple abnormalities of spermatid development and release. Spermiation failure HP:0034812 Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium. PMID:21866274 A morphological abnormality visible upon biopsy of the germinal epithelium of the testis in which the cellularity of the germinal epithelium is reduced in general, so that all stages of germ cells (spermatogonia, spermatocytes, and spermatids) are present but reduced in number. This term applies to biopsies with some tubules showing diminished amounts of qualitatively complete spermatogenesis in combination with a vast majority of tubules that lack germ cells. 2023-07-01T12:26:25Z human_phenotype HP:0034813 Hypospermatogenesis HP:0034813 A morphological abnormality visible upon biopsy of the germinal epithelium of the testis in which the cellularity of the germinal epithelium is reduced in general, so that all stages of germ cells (spermatogonia, spermatocytes, and spermatids) are present but reduced in number. This term applies to biopsies with some tubules showing diminished amounts of qualitatively complete spermatogenesis in combination with a vast majority of tubules that lack germ cells. PMID:21346828 Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface. 2023-07-01T13:01:19Z human_phenotype HP:0034814 Conjunctival membrane HP:0034814 A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter. 2023-07-01T13:05:06Z human_phenotype HP:0034815 Extreme oligozoospermia HP:0034815 A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter. 2023-07-01T13:06:04Z human_phenotype HP:0034816 Mild oligozoospermia HP:0034816 A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter. 2023-07-01T13:07:36Z human_phenotype HP:0034817 Moderate oligozoospermia HP:0034817 A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter. 2023-07-01T13:08:58Z human_phenotype HP:0034818 Severe oligozoospermia HP:0034818 The presence of a nodule (small rounded lump of tissue) in the iris. 2023-07-01T13:30:08Z human_phenotype HP:0034819 Iris nodule HP:0034819 The presence of a nodule (small rounded lump of tissue) in the iris. PMID:12185117 A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin. 2023-07-01T13:30:49Z Koeppe iris nodules Koeppe's nodules human_phenotype HP:0034820 Koeppe nodules can be observed in non-granulomaous and granulomatous uveitis. Koeppe nodules HP:0034820 A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin. PMID:8441952 A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface. 2023-07-01T13:49:42Z human_phenotype HP:0034821 Bussace nodules are considered pathognomonic for granulomatous uveitis. Bussaca nodules HP:0034821 A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface. PMID:8441952 2023-07-01T16:37:49Z human_phenotype HP:0034822 Abnormal CSF ion concentration HP:0034822 Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal. 2023-07-01T16:38:13Z Copper low in cerebrospinal fluid human_phenotype HP:0034823 Decreased CSF copper concentration HP:0034823 Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa. 2023-07-01T16:44:28Z human_phenotype HP:0034824 Diffuse pulmonary lymphoid hyperplasia HP:0034824 Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa. PMID:9714385 Applies to a sign or symptom that is improved or made more bearable by treatment with a steroid medication such as prednisone. 2023-07-01T17:08:46Z human_phenotype HP:0034825 Ameliorated by steroid medication HP:0034825 HP:4000101 2023-07-01T17:10:32Z human_phenotype HP:0034826 obsolete Triggered by medication exposure true HP:0034826 Applies to a sign or symptom that is provoked or brought about by administration of levothyroxin (thyroid hormone). 2023-07-01T17:10:38Z human_phenotype HP:0034827 Triggered by levothyroxin exposure HP:0034827 A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. 2023-07-01T18:08:17Z human_phenotype HP:0034828 Reduced muscle laminin alpha-2 chain staining HP:0034828 Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis. 2023-07-01T18:18:37Z human_phenotype HP:0034829 See Figure 4 of PMID:4014441. Adrenal cortical sclerosis HP:0034829 Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal. 2023-07-01T18:53:49Z human_phenotype HP:0034830 Reduced hepatic fructose-1,6-phosphate aldolase activity HP:0034830 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas. 2023-07-01T19:06:15Z human_phenotype HP:0034831 Pancreatic hamartoma HP:0034831 A benign liver neoplasm composed of fat, vascular, and smooth muscle elements. 2023-07-01T19:08:29Z Hepatic angiomyolipoma human_phenotype HP:0034832 Liver angiomyolipoma HP:0034832 A lipoma that is located within a the heart. 2023-07-01T19:09:53Z human_phenotype HP:0034833 Cardiac lipoma HP:0034833 Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers. 2023-07-01T19:11:52Z human_phenotype HP:0034834 Peripheral nerve polyglucosan inclusion bodies HP:0034834 Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers. PMID:23034915 Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue. 2023-07-01T19:32:27Z human_phenotype HP:0034835 Cardiac polyglucosan accumulation HP:0034835 A benign cystic neoplasm of the kidney. 2023-07-01T19:34:33Z Bbenign multilocular cystic nephroma Multicystic nephroma Multilocular cystic renal tumor Multilocular cystic renal tumour Polycystic nephroblastoma human_phenotype HP:0034836 The pathogenesis of cystic nephroma is controversial and there is no generally accepted classification. Cystic nephroma HP:0034836 A benign cystic neoplasm of the kidney. PMID:23662002 Multilocular cystic renal tumour Elastic fibers not demonstrable in skin biopsy. 2023-07-01T19:38:30Z human_phenotype HP:0034837 Absent dermal elastic fibers HP:0034837 Elastic fibers not demonstrable in skin biopsy. PMID:27293393 Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis. 2023-07-01T19:42:16Z human_phenotype HP:0034838 Cleavage at junction of stratum corneum and stratum granulosum HP:0034838 An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli. 2023-07-01T19:48:40Z human_phenotype HP:0034839 The appearance of lymphoid hyperplasia may resemble that of malignant lymphoma, well-differentiated lymphocytic type. Lymphoid hyperplasia HP:0034839 An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli. PMID:1246987 Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. 2023-07-01T21:40:14Z human_phenotype HP:0034840 Harlequin ichthyosis is characterized by absence of epidermial lamellar bodies. Absence of epidermal lamellar bodies HP:0034840 Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides. PMID:22797297 The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes. 2023-07-01T21:47:21Z human_phenotype HP:0034841 Gastrointestinal granulomatosis HP:0034841 Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal. 2023-07-03T10:22:35Z human_phenotype HP:0034842 Enlarged sperm head vacuole HP:0034842 Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal. PMID:22559046 PMID:24818161 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter. 2023-07-03T10:45:25Z human_phenotype HP:0034843 Ureteral hamartoma HP:0034843 A history of exposure during pregnancy of the mother of a fetus or child to methimazole. 2023-07-03T10:53:51Z Maternal methimazole exposure Methimazole exposure during gestation human_phenotype HP:0034844 Fetal methimazole exposure HP:0034844 A history of exposure during pregnancy of the mother of a fetus or child to procarbazine. 2023-07-03T10:55:53Z Maternal procarbazine exposure Procarbazine exposure during gestation human_phenotype HP:0034845 Fetal procarbazine exposure HP:0034845 A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil. 2023-07-03T10:57:48Z Fluorouracil exposure during gestation Maternal fluorouracil exposure human_phenotype HP:0034846 Fetal fluorouracil exposure HP:0034846 A history of exposure during pregnancy of the mother of a fetus or child to cytarabine. 2023-07-03T10:59:11Z Cytarabine exposure during gestation Maternal cytarabine exposure human_phenotype HP:0034847 Fetal cytarabine exposure HP:0034847 A history of exposure during pregnancy of the mother of a fetus or child to tetracycline. 2023-07-03T11:00:35Z Maternal tetracycline exposure Tetracycline exposure during gestation human_phenotype HP:0034848 Fetal tetracycline exposure HP:0034848 A history of exposure during pregnancy of the mother of a fetus or child to quinine. 2023-07-03T11:01:48Z Maternal quinine exposure Quinine exposure during gestation human_phenotype HP:0034849 Fetal quinine exposure HP:0034849 A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide. 2023-07-03T11:04:16Z Cyclophosphamide exposure during gestation Maternal cyclophosphamide exposure human_phenotype HP:0034850 Fetal cyclophosphamide exposure HP:0034850 A history of exposure during pregnancy of the mother of a fetus or child to metronidazole. 2023-07-03T11:06:07Z Maternal metronidazole exposure Metronidazole exposure during gestation human_phenotype HP:0034851 Fetal metronidazole exposure HP:0034851 A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital. 2023-07-03T11:07:36Z Maternal phenobarbital exposure Phenobarbital exposure during gestation human_phenotype HP:0034852 Fetal phenobarbital exposure HP:0034852 A history of exposure during pregnancy of the mother of a fetus or child to phenytoin. 2023-07-03T11:08:56Z Maternal phenytoin exposure Phenytoin exposure during gestation human_phenotype HP:0034853 Fetal phenytoin exposure HP:0034853 Applies to an abnormality whose distribution and appearance are located at or near the umbilicus (belly button). 2023-07-03T11:15:06Z human_phenotype HP:0034854 Periumbilical HP:0034854 A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient. 2023-07-03T11:51:41Z human_phenotype HP:0034855 Maternal obesity during pregnancy HP:0034855 A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient. PMID:34283479 A history of amniocentesis having been performed in the mother of a fetus or index patient. 2023-07-03T11:54:40Z human_phenotype HP:0034856 Complications of amniocentesis are rare but include fetal loss, amniotic fluid leak, fetal lung hypoplasia, and fetal injuries like bleeding from the cord, ocular injuries, and postural deformities like talipes equinovarus (clubfoot). Maternal amniocentesis HP:0034856 A history of amniocentesis having been performed in the mother of a fetus or index patient. PMID:32644673 Description of conditions in which age of onset is highly variable even in family members who share the same disease-associated variant or variants. 2023-07-06T17:23:28Z human_phenotype HP:0034857 Typified by highly variable age of onset HP:0034857 Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal. 2023-07-08T15:40:32Z human_phenotype HP:0034858 Abnormal leukocyte enzyme concentration or activity HP:0034858 Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes. 2023-07-08T15:41:16Z Beta-glucuronidase low in leukocytes Reduced beta-glucuronidase activity in cultured fibroblasts Reduced leukocyte beta-glucuronidase activity human_phenotype HP:0034859 Reduced tissue beta-glucuronidase activity HP:0034859 Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal. 2023-07-08T16:06:16Z human_phenotype HP:0034860 This feature is characteristic of fucosidosis. Reduced leukocyte alpha-L-fucosidase activity HP:0034860 Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal. 2023-07-08T16:26:56Z human_phenotype HP:0034861 This finding is characteristic of mucopolysaccharidosis type VI (MPS6). Reduced arylsulfatase activity can also be measured in cultured fibroblasts. Reduced leukocyte arylsulfatase B activity HP:0034861 Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal. 2023-07-08T16:31:44Z Reduced leukocyte arylsulfatase C activity human_phenotype HP:0034862 Reduced activity of steroid sulfatase, also called arylsulfatase C, is characteristic of X-linked ichthyosis. Reduced leukocyte steroid sulfatase activity HP:0034862 Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal. 2023-07-08T16:36:30Z human_phenotype HP:0034863 This finding is characteristic of metachromatic leukodystrophy. Reduced activity can also be measured in cultured fibroblasts. Reduced leukocyte arylsulfatase A activity HP:0034863 Activity of the enzyme alpha-galactosidase below the lower limit of normal. 2023-07-08T16:52:49Z human_phenotype HP:0034864 Fabry disease is a lysosomal storage disorder caused by pathogenic variants in the X-linked GLA (alpha Galactosidase A) gene (Xq22.1). Decreased alpha-galactosidase A activity HP:0034864 Activity of the enzyme alpha-galactosidase below the lower limit of normal. PMID:25106696 Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e 2023-07-08T17:07:20Z Positive stool parasite test Parasites present on wet mount of stool human_phenotype HP:0034865 Positive fecal parasite test HP:0034865 Any kind of test for an infectious agent in stool positive. 2023-07-08T17:10:24Z human_phenotype HP:0034866 Positive stool infectious agent test HP:0034866 Test for giardia antigen in stool such as immune assay or DFA positive. 2023-07-08T17:11:29Z human_phenotype HP:0034867 Positive stool giardia antigen HP:0034867 Demonstration of antibody directed against Entamoeba histolytica in stool. 2023-07-08T17:12:53Z human_phenotype HP:0034868 Entamoeba histolytica antibody positive in stool HP:0034868 Concentration of porphyrin in erythrocytes below the lower limit of normal. 2023-07-08T17:18:13Z human_phenotype HP:0034869 Reduced erythrocyte free porphyrin concentration HP:0034869 The concentration of urocanic acid in the blood circulation is below the lower limit of normal. 2023-07-08T17:21:26Z Urocanic acid low in blood human_phenotype HP:0034870 Reduced circulating urocanic acid concentration HP:0034870 The concentration of epinephrine in the urine, normalized for urine concentration, is below the lower limit of normal. 2023-07-08T17:31:45Z human_phenotype HP:0034871 Decreased urinary epinephrine level HP:0034871 Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal. 2023-07-08T17:37:15Z human_phenotype HP:0034872 Decreased CSF epinephrine concentration HP:0034872 Concentration of epinephrin in the blood circulation below the lower limit of normal. 2023-07-08T17:39:36Z human_phenotype HP:0034873 Decreased circulating epinephrine concentration HP:0034873 Concentration of norepinephrin in the blood circulation below the lower limit of normal. 2023-07-08T17:40:54Z human_phenotype HP:0034874 Decreased circulating norepinephrine concentration HP:0034874 The concentration of norepinephrine in the urine, normalized for urine concentration, is below the lower limit of normal. 2023-07-08T17:42:04Z human_phenotype HP:0034875 Decreased urinary norepinephrine level HP:0034875 The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal. 2023-07-08T17:43:04Z human_phenotype HP:0034876 Decreased urinary metaepinephrine level HP:0034876 Concentration of metanephrine in the cerebrospinal fluid below the lower limit of normal. 2023-07-08T17:44:07Z human_phenotype HP:0034877 Decreased CSF metanephrine concentration HP:0034877 Concentration of metanephrin in the blood circulation below the lower limit of normal. 2023-07-08T17:44:52Z human_phenotype HP:0034878 Decreased circulating metanephrine concentration HP:0034878 A swelling or enlargement localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-08T17:47:33Z human_phenotype HP:0034879 An ovarian mass may be initially found upon ultrasound, CT, or MRI investigation. Ovarian mass HP:0034879 A swelling or enlargement localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-08T17:53:16Z human_phenotype HP:0034880 Adrenal mass HP:0034880 A swelling or enlargement localized to the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-08T17:54:21Z human_phenotype HP:0034881 Uterine mass HP:0034881 Calcium deposits in the prostate gland. 2023-07-08T18:38:56Z Prostatic calcul human_phenotype HP:0034882 Most cases of prostatic calculi are not accompanied by symptoms. Therefore, most cases are found incidentally during the diagnosis of BPH using transrectal ultrasonography. Prostatic calculus HP:0034882 Prostatic calcul A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s. 2023-07-08T18:47:33Z Reduced portal venous flow human_phenotype HP:0034883 Decreased portal vein velocity HP:0034883 A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s. PMID:28632958 A swelling or enlargement localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-08T18:50:24Z human_phenotype HP:0034884 Uterine cervix mass HP:0034884 The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal. 2023-07-08T19:03:25Z human_phenotype HP:0034885 Abnormal urinary uromodulin level HP:0034885 The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal. 2023-07-08T19:05:13Z Uromodulin low in urine human_phenotype HP:0034886 Decreased urinary uromodulin level HP:0034886 The concentration of phenylacetylglutamine in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-07-08T20:56:58Z human_phenotype HP:0034887 Increased urine phenylacetylglutamine level HP:0034887 The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal. 2023-07-08T21:00:35Z human_phenotype HP:0034888 Decreased urine guanidinoacetic acid level HP:0034888 Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine. 2023-07-08T21:05:41Z human_phenotype HP:0034889 Positive urine infectious agent nucleic acid test HP:0034889 Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction. 2023-07-08T21:07:07Z Cytomegalovirus (CMV) PCR in urine positive Positive cytomegalovirus urine nucleic acid test human_phenotype HP:0034890 Positive CMV urine nucleic acid test HP:0034890 Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction. 2023-07-08T21:09:27Z Neisseria gonorrhoeae PCR positive in urine human_phenotype HP:0034891 Positive Neisseria gonorrhoeae urine nucleic acid test HP:0034891 Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction. 2023-07-08T21:11:05Z Enterovirus RT-PCR in urine human_phenotype HP:0034892 Positive enterovirus urine nucleic acid test HP:0034892 An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS). 2023-07-08T21:17:39Z human_phenotype HP:0034893 Elevated brain glycine level by MRS HP:0034893 An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS). 2023-07-08T21:20:46Z human_phenotype HP:0034894 Elevated brain polyol compounds by MRS HP:0034894 An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS). 2023-07-08T21:22:25Z Elevated brain GABA by MRS human_phenotype HP:0034895 Elevated brain gamma-aminobutyric acid by MRS HP:0034895 Medical history of ingestion of anticoagulants prior to presentation. 2023-07-08T21:24:16Z human_phenotype HP:0034896 History of recent anticoagulant ingestion HP:0034896 Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation. 2023-07-08T23:11:30Z human_phenotype HP:0034897 Decreased circulating antidiuretic hormone concentration HP:0034897 Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation. 2023-07-08T23:14:56Z human_phenotype HP:0034898 Elevated circulating growth hormone-releasing hormone concentration HP:0034898 Any deviation of the concentration of a protein in the amniotic fluid from normal limits 2023-07-08T23:17:15Z human_phenotype HP:0034899 Abnormal amniotic fluid protein concentration HP:0034899 Concentration of alpha-fetoprotein in the amniotic fluid below lower limit of normal. 2023-07-08T23:18:10Z human_phenotype HP:0034900 Decreased amniotic fluid alpha-fetoprotein concentration HP:0034900 Concentration of vitamin E in the blood circulation above the upper limit of normal. 2023-07-08T23:21:26Z human_phenotype HP:0034901 Increased circulating vitamin E concentration HP:0034901 Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits. 2023-07-08T23:22:54Z human_phenotype HP:0034902 Abnormal circulating calcitonin concentration HP:0034902 Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal. 2023-07-08T23:24:54Z Calcitonin low in blood human_phenotype HP:0034903 Decreased circulating calcitonin concentration HP:0034903 Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation. 2023-07-08T23:27:10Z Decreased circulating TRH concentration Thyrotropin releasing hormone (TRH) low in blood human_phenotype HP:0034904 Decreased circulating thyrotropin releasing hormone concentration HP:0034904 Decreased circulating TRH concentration Concentration of uroporphyrin in the blood circulation above the upper limit of normal. 2023-07-08T23:30:01Z human_phenotype HP:0034905 Elevated circulating uroporphyrin concentration HP:0034905 Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-07-08T23:37:13Z Pentacarboxylporphyrin high in urine human_phenotype HP:0034906 Increased urine pentacarboxylporphyrin level HP:0034906 Concentration of hexacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-07-08T23:38:17Z Hexacarboxylporphyrin high in urine human_phenotype HP:0034907 Increased urine hexacarboxylporphyrin level HP:0034907 Concentration of dehydroepiandrosterone in the blood circulation above the upper limit of normal. 2023-07-08T23:41:25Z Dehydroepiandrosterone high in blood human_phenotype HP:0034908 Increased circulating dehydroepiandrosterone concentration HP:0034908 Concentration of coproporphyrin in erythrocytes above the upper limit of normal. 2023-07-08T23:44:43Z human_phenotype HP:0034909 Increased erythrocyte coproporphyrin concentration HP:0034909 Concentration of uroproporphyrin in erythrocytes above the upper limit of normal. 2023-07-08T23:45:56Z Uroporphyrin high in erythrocytes human_phenotype HP:0034910 Increased erythrocyte uroproporphyrin concentration HP:0034910 The concentration of apolipoprotein E in the blood circulation is below the lower limit of normal. 2023-07-08T23:47:54Z Decreased apolipoprotein E concentration Decreased apolipoprotein E level Decreased apolipoprotein E level in blood Decreased circulating apolipoprotein E concentration Reduced apolipoprotein E concentration Reduced apolipoprotein E level Reduced apolipoprotein E level in blood human_phenotype HP:0034911 Decreased circulating apolipoprotein E concentration HP:0034911 The concentration of apolipoprotein E in the blood circulation is above the upper limit of normal. 2023-07-08T23:49:34Z Elevated apolipoprotein E concentration Elevated apolipoprotein E level Elevated apolipoprotein E level in blood Elevated circulating apolipoprotein E concentration Increased apolipoprotein E concentration Increased apolipoprotein E level Increased apolipoprotein E level in blood human_phenotype HP:0034912 Elevated circulating apolipoprotein E concentration HP:0034912 Reduction in the size of the acrosome of the head of spermatozoa. 2023-07-09T12:25:21Z human_phenotype HP:0034913 The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus that is highly conserved throughout evolution. This acidic vacuole contains a number of hydrolytic enzymes that, when secreted, help the sperm penetrate the egg's coats. See Figure 23 of PMID:3311822. Acrosomal hypoplasia HP:0034913 Reduction in the size of the acrosome of the head of spermatozoa. PMID:3311822 Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes. 2023-07-09T12:27:43Z human_phenotype HP:0034914 Oocyte maturation occurs through a series of molecular and morphological changes. Oocytes are initially arrested at the diplotene stage of prophase I, at which point they are referred to as germinal vesicle (GV) oocytes. Upon a surge in luteinizing hormone, GV oocytes exit prophase I and resume meiosis, and this is followed by chromatin condensation and breakdown of the nuclear envelope. Coupled with spindle formation and chromosome alignment, oocytes enter into meiosis I (when they are referred to as MI oocytes). MI is completed by extrusion of the first polar body. Oocytes then enter into meiosis II (when they are referred to as MII oocytes) but arrest at metaphase of MII until fertilization. In clinical in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), first polar body (PB1) oocytes are regarded as indicative of MII oocytes, which can be used for fertilization. Oocyte maturation arrest occurs at different stages, including the GV stage and MI, leading to female infertility. Oocyte maturation arrest HP:0034914 Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes. PMID:28965849 PMID:37073822 A structural anomaly of the anus. 2023-07-09T12:37:28Z human_phenotype HP:0034915 Abnormal anus morphology HP:0034915 A functional anomaly of the anus. 2023-07-09T12:39:28Z human_phenotype HP:0034916 Abnormal anus physiology HP:0034916 Reduced muscle tone of the sphincter of the anus. 2023-07-09T12:41:28Z human_phenotype HP:0034917 Weak anal sphincter tone HP:0034917 Reduced muscle tone of the sphincter of the anus. PMID:20011334 Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue. 2023-07-09T12:48:51Z Muscle biopsy: 2,4-dienoyl-CoA reductase activity low human_phenotype HP:0034918 Reduced muscle 2,4-dienoyl-CoA reductase activity HP:0034918 Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue. 2023-07-09T12:58:57Z human_phenotype HP:0034919 Reduced liver 2,4-dienoyl-CoA reductase activity HP:0034919 Inflammation of blood vessels in the mucosa of the nasal cavity. 2023-07-09T13:02:03Z human_phenotype HP:0034920 Nasal mucosa vasculitis HP:0034920 Inflammation of blood vessels in the mucosa of the nasal cavity. PMID:2001873 Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants 2023-07-09T13:05:04Z human_phenotype HP:0034921 Pituitary blastoma presents in infants younger than 24 months, most frequently with Cushing syndrome and elevated adrenocorticotropin (ACTH) and occasionally with ophthalmoplegia, signs of increased intracranial pressure, diabetes insipidus, and thyrotropin deficit. An often large solid or cystic/solid mass arises from the sella with extension into the hypothalamus and may encompass the optic chiasm and/or cavernous sinuses. Pathologically, the tumors exhibit arrested pituitary development and uncontrolled proliferation and are composed of Rathke epithelium, folliculostellate cells, small primitive cells, and secretory cells with ACTH or, less often, growth hormone immunoexpression. Pituitary blastoma HP:0034921 Axonal spheroids are bubble-like biological features that form on most degenerating axons. 2023-07-09T13:09:04Z human_phenotype HP:0034922 They often contain cytoskeletal elements and organelles, and, depending on the pathological insult, can colocalize with disease-related proteins such as amyloid precursor protein (APP), ubiquitin, and motor proteins. Initial formation of axonal spheroids depends on the disruption of axonal and membrane tension governed by cytoskeleton structure and calcium levels. Shortly after spheroid formation, the engulfment signal, phosphatidylserine (PS), is exposed on the outer leaflet of spheroid plasma membrane, suggesting an important role for axonal spheroids in phagocytosis and debris clearance during degeneration. Peripheral axon spheroid formation HP:0034922 Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal. 2023-07-09T13:14:28Z human_phenotype HP:0034923 Reduced liver carboxylesterase 1 activity HP:0034923 A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer. 2023-07-09T13:20:49Z human_phenotype HP:0034924 Abnormal dermis morphology HP:0034924 Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin. 2023-07-09T13:21:54Z human_phenotype HP:0034925 See Figure 4 of PMID:11298373 Perivascular dermis hyaline deposition HP:0034925 Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin. PMID:11298373 Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine. 2023-07-09T13:30:39Z human_phenotype HP:0034926 Perivascular small intestinal hyaline deposition HP:0034926 Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum. 2023-07-09T14:05:51Z human_phenotype HP:0034927 The chief function of keratohyaline granules seems to be cross-linking of keratin filaments which creates the tight barrier that is the epidermis. Large keratohyaline granules HP:0034927 Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum. PMID:20226437 PMID:30725734 Reduced amount of lipoic acid in muscle tissue. 2023-07-09T14:16:08Z Muscle biopsy: lipoic acid low human_phenotype HP:0034928 Decreased muscle lipoic acid content HP:0034928 Activity of cystathionine gamma-lyase in the liver below the lower limit of normal. 2023-07-09T14:17:39Z Reduced hepatic cystathionase activity human_phenotype HP:0034929 Reduced hepatic cystathionine gamma-lyase activity HP:0034929 A tumor (abnormal growth of tissue) of the digestive system. 2023-07-09T14:37:49Z human_phenotype HP:0034930 Digestive system neoplasm HP:0034930 Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column. 2023-07-09T21:14:34Z Lumbar spine osteoarthritis human_phenotype HP:0034931 When osteoarthritis affects the spine, it is known as spondylosis. Lumbar spondylosis HP:0034931 Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal. 2023-07-09T21:19:47Z Decreased alpha-1,4-glucosidase activity human_phenotype HP:0034932 This finding is characteristic of Glycogen storage disease II (Pompe disease). Decreased circulating acid maltase activity HP:0034932 HP:0025550 2023-07-09T21:27:09Z human_phenotype HP:0034933 obsolete Increased circulating ribitol concentration true HP:0034933 Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal. 2023-07-09T21:28:49Z human_phenotype HP:0034934 Abnormal circulating 7-dehydrocholesterol concentration HP:0034934 Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal. 2023-07-09T21:31:39Z human_phenotype HP:0034935 Decreased circulating 7-dehydrocholesterol concentration HP:0034935 Concentration of lathosterol in the blood circulation above the upper limit of normal. 2023-07-09T21:33:55Z human_phenotype HP:0034936 Lathosterol is an intermeditate in the synthesis of cholesterol. Elevated circulating lathosterol concentration HP:0034936 Concentration of lathosterol in the blood circulation above the upper limit of normal. PMID:12189593 Concentration of desmosterol in the blood circulation above the upper limit of normal. 2023-07-09T21:38:58Z human_phenotype HP:0034937 Elevated circulating desmosterol concentration HP:0034937 Concentration of sialic acid in the blood circulation below the lower limit of normal. 2023-07-09T21:43:11Z human_phenotype HP:0034938 Sialic acid is a nine-carbon monosaccharide. Decreased circulating sialic acid concentration HP:0034938 The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells. 2023-07-10T10:13:56Z human_phenotype HP:0034939 Purulent synovial fluid HP:0034939 The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1. 2023-07-10T10:38:26Z human_phenotype HP:0034940 Muscle fiber calsequestrin 1-containing inclusion bodies HP:0034940 A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate. 2023-07-10T10:43:28Z human_phenotype HP:0034941 Palatine myxoma HP:0034941 A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate. PMID:33089457 A myxoma (tumor of primitive connective tissue) localized in the vagina. 2023-07-10T11:02:42Z human_phenotype HP:0034942 Vaginal myxoma HP:0034942 Abnormally reduced amount of collagen fibers in the dermis. 2023-07-10T11:07:29Z human_phenotype HP:0034943 See Figure 4C of PMID:29606302. Decreased dermal collagen HP:0034943 Abnormally reduced amount of collagen fibers in the dermis. PMID:29606302 Abnormal shape of keratohyaline granules in dermal keratinocytes. 2023-07-10T11:18:26Z human_phenotype HP:0034944 Normal keratohyaline granules demonstrate a stellate and angulated shape See Figure S2 (Electron microscopy of the granular layer) of PMID:29758285. Irregularly shaped keratohyaline granules HP:0034944 Abnormal shape of keratohyaline granules in dermal keratinocytes. PMID:29758285 Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization. 2023-07-10T11:23:34Z human_phenotype HP:0034945 Tubular shadows HP:0034945 Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids. 2023-07-10T11:27:16Z Multiple eyelid-margin apocrine hidrocystomas human_phenotype HP:0034946 Multiple eyelid margin cysts HP:0034946 Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids. PMID:19559398 The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and transverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy. 2023-07-10T11:39:59Z human_phenotype HP:0034947 Altered location of the longitudinal column in the fibrous sheath HP:0034947 A myxoma (tumor of primitive connective tissue) localized to the uterus. 2023-07-10T11:49:12Z human_phenotype HP:0034948 Uterine myxoma HP:0034948 A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus. 2023-07-10T11:51:29Z human_phenotype HP:0034949 Uterine cervix myxoma HP:0034949 Penetrance describes the proportion of genotype positive individuals that develop disease given a lifespan of 80 years. For example, penetrance of Neurofibromatosis type 1 is close to 100%. 2023-07-15T10:51:19Z human_phenotype HP:0034950 Description of conditions in which all individuals with a given genotype exhibit the disease within a lifespan of 80 years. Typified by complete penetrance HP:0034950 A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius. 2023-07-15T10:53:16Z human_phenotype HP:0034951 Osteochondromyxoma is a rare manifestation of Carney complex. Osteochondromyxoma HP:0034951 A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius. PMID:28008382 A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres. 2023-07-15T11:01:30Z human_phenotype HP:0034952 Gangliocytoma HP:0034952 A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres. PMID:35239806 A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum. 2023-07-15T11:03:33Z human_phenotype HP:0034953 Duodenal gastrinoma HP:0034953 A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum. PMID:28722872 A primary thymic neuroendocrine tumor. 2023-07-15T11:05:16Z human_phenotype HP:0034954 Thymic carcinoid tumor HP:0034954 A primary thymic neuroendocrine tumor. PMID:29201451 Count of eosinophils in the bone marrow above the upper limit of normal. 2023-07-15T11:07:12Z Eosinophils increased in bone marrow human_phenotype HP:0034955 See Figure 1E of PMID:27684977. Bone marrow eosinophilia HP:0034955 Count of eosinophils in the bone marrow above the upper limit of normal. PMID:27684977 Applied to a sign or symptom that is worsened by treatment with lithium. 2023-07-15T11:11:04Z human_phenotype HP:0034956 Exacerbated by lithium exposure HP:0034956 Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal. 2023-07-15T11:12:55Z human_phenotype HP:0034957 Glycogen debrancher enzyme degrades glycogen branches and thereby releases glucose in a two step reaction. Debranching enzyme activity can be measured in either blood cells (leukocytes or erythrocytes), skin fibroblasts, or liver or muscle biopsy. Reduced hepatic glycogen debrancher enzyme activity HP:0034957 Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal. PMID:20301788 Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal. 2023-07-15T11:53:53Z Asymmetrical insertion of sperm neck human_phenotype HP:0034958 Asymmetrical insertion of the midpiece into the head HP:0034958 Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal. 2023-07-15T12:04:47Z human_phenotype HP:0034959 Bent sperm neck HP:0034959 The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2023-07-15T12:57:48Z human_phenotype HP:0034960 Elevated urine 3,6-epoxydicarboxylic acid level HP:0034960 The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:7511488 Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography. 2023-07-15T13:12:39Z human_phenotype HP:0034961 Gallbladder biliary sludging HP:0034961 Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography. PMID:11276386 Applied to a sign or symptom that is worsened by treatment with amiodarone. 2023-07-15T13:14:54Z human_phenotype HP:0034962 Exacerbated by amiodarone exposure HP:0034962 A swelling or enlargement localized to the ureter. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-15T20:40:33Z human_phenotype HP:0034963 Ureteral mass HP:0034963 Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum. 2023-07-15T20:41:51Z human_phenotype HP:0034964 Wide cavum septum pellucidum HP:0034964 Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum. PMID:1705800 Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement. 2023-07-15T20:50:14Z Hypoplasia of cranial nerve IV human_phenotype HP:0034965 Hypoplastic trochlear nerve HP:0034965 Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement. PMID:30725929 A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum . 2023-07-15T20:54:07Z human_phenotype HP:0034966 Thymic cyst HP:0034966 A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum . PMID:29312727 A closed sack of tissue (cyst) located in the uterus. 2023-07-15T20:59:01Z human_phenotype HP:0034967 Uterine cyst HP:0034967 A closed sack of tissue (cyst) located in the uterus. PMID:23091995 A swelling or enlargement localized to the urinary bladder. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-15T21:00:47Z human_phenotype HP:0034968 Urinary bladder mass HP:0034968 A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones. 2023-07-15T22:00:26Z human_phenotype HP:0034969 Endosteal scalloping HP:0034969 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder. 2023-07-15T22:01:59Z human_phenotype HP:0034970 Urinary bladder hamartoma HP:0034970 A swelling or enlargement localized to the peritoneal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-15T22:07:19Z human_phenotype HP:0034971 Peritoneal mass HP:0034971 A swelling or enlargement localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2023-07-15T22:08:53Z human_phenotype HP:0034972 Fallopian tube mass HP:0034972 Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure. 2023-07-15T22:11:03Z human_phenotype HP:0034973 Aplasia of the pyramids of the medulla oblongata HP:0034973 Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure. PMID:3976367 A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture. 2023-07-15T22:37:30Z human_phenotype HP:0034974 Bathrocephaly HP:0034974 A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture. PMID:21970727 Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles. 2023-07-15T22:41:28Z human_phenotype HP:0034975 See Figure 2 of PMID:31336972. Occipital horn HP:0034975 Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles. PMID:31336972 A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. 2023-07-16T12:39:21Z human_phenotype HP:0034976 See Figure 1 and 2 of PMID:25250085. Absent pituitary stalk HP:0034976 A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. PMID:25250085 A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. 2023-07-16T12:45:14Z human_phenotype HP:0034977 Abnormal pituitary stalk morphology HP:0034977 A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. PMID:25654066 A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. 2023-07-16T12:45:49Z human_phenotype HP:0034978 Interrupted pituitary stalk HP:0034978 A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland. PMID:25250085 Unintentional movement in one area of the face produced during intentional movement of another area of the face. 2023-07-16T12:50:35Z human_phenotype HP:0034979 For instance, facial synkinesis may manifest as hypertonic contractures and synkinetic movements such as eye closure with volitional movement of the mouth or midfacial movement during volitional or reflexive eye closure. Facial synkinesis HP:0034979 Unintentional movement in one area of the face produced during intentional movement of another area of the face. PMID:18470836 Unintentional movement in one area of the body produced during intentional movement of another area of the body. 2023-07-16T12:53:26Z human_phenotype HP:0034980 Synkinesis HP:0034980 History of exposure to birds. 2023-07-16T12:58:28Z human_phenotype HP:0034981 Exposure to birds HP:0034981 Loss of sensation to the area of buttocks, perianal space and thighs. 2023-07-16T13:02:39Z human_phenotype HP:0034982 This feature may be observed with cauda equina syndrome as a collection of acute symptoms mostly occurring secondary to a large disk herniations leading to neuropathy of multiple lumbar and sacral nerve roots, or with spinal epidural abscess. Perianal anesthesia HP:0034982 Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis. 2023-07-16T13:05:29Z Phenylephrine does not induce blanching of eye redness human_phenotype HP:0034983 Failure of phenylephrine to induce blanching of eye redness HP:0034983 A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol). 2023-07-16T13:18:17Z Alcohol during pregnancy Alcohol exposure before birth Alcohol exposure during gestation Alcohol exposure during pregnancy Alcohol exposure in pregnancy Alcohol use during pregnancy Antenatal ETOH exposure Antenatal alcohol exposure Exposure to alcohol during gestation Exposure to alcohol in the womb Exposure to alcohol in utero Prenatal ETOH exposure Prenatal alcohol exposure Prenatal exposure to ETOH Prenatal exposure to alcohol human_phenotype HP:0034984 Fetal alcohol exposure HP:0034984 A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol). PMID:28846263 Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm. 2023-07-16T15:45:24Z human_phenotype HP:0034985 Cobalamin (Cbl. also known as vitamin B12) plays a role in the recycling of folate for single carbon exchange reactions, purine and pyrimidine synthesis, and methylation of homocysteine for the production of S-adenosylmethionine. The absorption, blood transport and cellular uptake of Cbl are complex processes involving multiple proteins and receptors. Transcobalamine binds to Cbl to protect it from acid degradation in the stomach. Reduced cellular cobalamin uptake HP:0034985 A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem. 2023-07-16T15:59:26Z human_phenotype HP:0034986 Focal necrotic brainstem lesion HP:0034986 A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve. 2023-07-16T16:02:10Z human_phenotype HP:0034987 Focal necrotic optic nerve lesion HP:0034987 A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus. 2023-07-16T16:03:32Z human_phenotype HP:0034988 Focal necrotic thalamus lesion HP:0034988 Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy. 2023-07-16T16:06:03Z human_phenotype HP:0034989 Interstitial dermal edema HP:0034989 2023-07-18T17:29:37Z Abduction contracture of the shoulder human_phenotype HP:0034990 A type of shoulder contracture characterized by decreased adduction movement of shoulder, that is, by a by a chronic reduction in active and passive ability to move the arm via the shoulder joint away from the median plane of the body. Shoulder abduction contracture HP:0034990 A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body). 2023-07-18T17:32:50Z External rotation contracture of the shoulder joint human_phenotype HP:0034991 Shoulder external rotation contracture HP:0034991 A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment. 2023-07-18T17:41:33Z human_phenotype HP:0034992 Thumb adduction contracture HP:0034992 The inability to rotate the proximal or upper limb segment laterally past anatomic neutral moving away from the midline, when viewed from anteriorly. Anatomic neutral position is defined as the trans-epicondylar axis of the distal humerus (for upper extremity) or femur (for lower extremity) is parallel to the sagittal plane of the body. This type of contracture is characterized by a turning of the knee from a neutral position to one facing more the midline, where the neutral position for the hip is with knee pointing directly anteriorly (less than or equal to 45 degrees). 2023-07-18T17:59:08Z human_phenotype HP:0034993 Hip internal rotation contracture HP:0034993 HP:0034026 2023-07-19T11:20:03Z human_phenotype HP:0034994 obsolete Elevated circulating saccharopine concentration true HP:0034994 Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes. 2023-07-19T11:29:47Z Reduced hepatic fructose-1,6-bisphosphatase activity Reduced leukocyte fructose-1,6-bisphosphatase activity human_phenotype HP:0034995 Reduced tissue fructose-1,6-bisphosphatase activity HP:0034995 Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal. 2023-07-19T11:33:08Z human_phenotype HP:0034996 Carbamoyl phosphate synthetase I (EC 6.3.4.16) is the rate-limiting enzyme that catalyzes the first committed step of the hepatic urea cycle by synthesizing carbamoyl phosphate from ammonia, bicarbonate, and 2 molecules of ATP. Reduced hepatic carbamoylphosphate synthetase 1 activity HP:0034996 Reduced number of small nerve fibers in the skin. 2023-07-19T11:40:04Z human_phenotype HP:0034997 Small fibers travel too slowly, and their conduction responses cannot be captured by a nerve conduction study, which is a routine test performed to evaluate large sensory and motor nerve fibers. Therefore, a skin biopsy is often used to assess small sensory nerve fibers in the skin. Skin biopsy is a minimally invasive procedure that may also be used to evaluate intraepidermal nerve fiber density. Skin specimens are typically obtained by a 3 mm punch biopsy at the distal leg and thigh and are then sent for laboratory analysis. Small fiber neuropathy may be diagnosed if the intraepidermal nerve fiber density is less than normal. Reduced intraepidermal small nerve fiber density HP:0034997 Reduced number of small nerve fibers in the skin. PMID:35881752 A developmental defect characterized by the presence of a supernumerary femoral artery. 2023-07-19T11:42:38Z human_phenotype HP:0034998 Femoral artery duplication HP:0034998 A developmental defect characterized by the presence of a supernumerary femoral artery. PMID:27504194 Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin. 2023-07-19T11:51:37Z human_phenotype HP:0034999 See Figure 2B of PMID:8288900. Intracellular accumulation of collagen VII HP:0034999 Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin. PMID:19726672 PMID:8288900 Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane. 2023-07-19T12:03:04Z human_phenotype HP:0035000 Reduced reticular lamina anchoring fibril density HP:0035000 Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone. 2023-07-19T12:06:30Z human_phenotype HP:0035001 Reduced lamina lucida anchoring filament density HP:0035001 Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. 2023-07-19T12:12:00Z human_phenotype HP:0035002 Reduced epidermal keratin 5 protein expression HP:0035002 Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. 2023-07-19T12:12:06Z human_phenotype HP:0035003 Reduced epidermal keratin 14 protein expression HP:0035003 Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy. 2023-07-19T12:12:45Z human_phenotype HP:0035004 Reduced epidermal keratin protein expression HP:0035004 Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal. 2023-07-19T12:23:58Z human_phenotype HP:0035005 Reduced hepatic alanine-glyoxylate aminotransferase activity HP:0035005 Presence of an increased amount of blood in the hepatic capillaries. 2023-07-19T12:26:59Z human_phenotype HP:0035006 Sinusoidal dilatation and congestion (SDC) in liver biopsy is often the result of venous outflow impairment. This impairment can occur at the level of the small hepatic veins (veno-occlusive disease), large hepatic veins (Budd-Chiari syndrome), or the heart (right-sided heart failure, tricuspid valve disease, constrictive pericarditis). See Figure in PMID:15270610 Hepatic sinusoidal dilatation HP:0035006 The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal. 2023-07-19T21:14:29Z human_phenotype Thin spermatozoon neck HP:0035007 Thin spermatozoon midpiece HP:0035007 Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal. 2023-07-19T21:18:05Z human_phenotype HP:0035008 See Figure 2.10i of the WHO laboratory manual for the examination and processing of human semen, Sixth edition (2021). Thick spermatozoon midpiece insertion HP:0035008 A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body. 2023-07-19T21:25:13Z Adduction contracture of the shoulder human_phenotype HP:0035009 Shoulder adduction contracture HP:0035009 Exposure to a substance that results from the performance of an employee's duties. 2023-07-19T21:37:42Z human_phenotype HP:0035010 Occupational exposure history HP:0035010 A history of exposure to silver that has occurred in relation to performance of job duties. 2023-07-19T21:38:37Z human_phenotype HP:0035011 Occupational silver exposure HP:0035011 Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall. 2023-07-20T20:50:38Z human_phenotype HP:0035012 Abnormal femoral artery morphology HP:0035012 Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall. PMID:30855850 2023-07-20T20:55:24Z human_phenotype HP:0035013 Abnormal extrahepatic bile duct morphology HP:0035013 Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts. 2023-07-20T21:02:49Z human_phenotype HP:0035014 Extrahepatic bile duct fibrosis HP:0035014 Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5), 2023-07-21T12:03:10Z human_phenotype HP:0035015 Elevated circulating short-chain acylcarnitine concentration HP:0035015 The concentration of C4-acylcarnitine in the blood circulation is above the upper limit of normal. 2023-07-21T12:10:26Z Elevated C4-acylcarnitine concentration Elevated C4-acylcarnitine level Elevated C4-acylcarnitine level in blood Elevated circulating C4-acylcarnitine concentration Increased C4-acylcarnitine concentration Increased C4-acylcarnitine level Increased C4-acylcarnitine level in blood human_phenotype HP:0035016 C4 acylcarnitines have a four-carbon acyl chain. C4 acylcarnitines include butyrylcarnitine (C4:0 acylcarnitine) and isobutyrylcarnitine (C4:1 acylcarnitine). Elevated circulating C4-acylcarnitine concentration HP:0035016 Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12), 2023-07-21T12:15:05Z human_phenotype HP:0035017 Elevated circulating medium-chain acylcarnitine concentration HP:0035017 Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20), 2023-07-21T12:17:25Z human_phenotype HP:0035018 Elevated circulating long-chain acylcarnitine concentration HP:0035018 Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain. 2023-07-21T12:20:27Z human_phenotype HP:0035019 Elevated circulating C5 acylcarnitine concentration HP:0035019 Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain. 2023-07-21T12:29:12Z human_phenotype HP:0035020 Elevated circulating C18 acylcarnitine concentration HP:0035020 Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain. 2023-07-21T12:33:06Z human_phenotype HP:0035021 Elevated circulating C16 acylcarnitine concentration HP:0035021 Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher), 2023-07-21T12:35:03Z human_phenotype HP:0035022 Elevated circulating very long-chain acylcarnitine concentration HP:0035022 Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain. 2023-07-21T12:36:55Z Elevated circulating C2 acylcarnitine concentration human_phenotype HP:0035023 Elevated circulating acetylcarnitine concentration HP:0035023 Concentration of methylmalonylcarnitine in the blood circulation above the upper limit of normal. 2023-07-21T12:39:12Z Elevated circulating C4-DC acylcarnitine concentration Methylmalonylcarnitine (C4-DC) high in blood human_phenotype HP:0035024 Elevated circulating methylmalonylcarnitine concentration HP:0035024 Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal. 2023-07-21T12:41:39Z Elevated circulating C16-OH acylcarnitine concentration human_phenotype HP:0035025 Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration HP:0035025 Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain. 2023-07-21T12:47:54Z human_phenotype HP:0035026 Elevated circulating C6 acylcarnitine concentration HP:0035026 The concentration of O-methylglutarylcarnitine in the blood circulation is above the upper limit of normal. 2023-07-21T12:48:55Z Elevated O-methylglutarylcarnitine concentration Elevated O-methylglutarylcarnitine level Elevated O-methylglutarylcarnitine level in blood Elevated circulating C6-DC acylcarnitine concentration Elevated circulating methylglutarylcarnitine concentration Increased O-methylglutarylcarnitine concentration Increased O-methylglutarylcarnitine level Increased O-methylglutarylcarnitine level in blood human_phenotype HP:0035027 Elevated circulating methylglutarylcarnitine concentration HP:0035027 Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal. 2023-07-21T12:56:26Z Elevated circulating C5-OH acylcarnitine concentration human_phenotype HP:0035028 Elevated circulating 3-hydroxyisovalerylcarnitine concentration HP:0035028 Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal. 2023-07-21T13:15:24Z Elevating circulating C6-OH acylcarnitine concentration human_phenotype HP:0035029 Elevated circulating 3-hydroxyhexanoylcarnitine concentration HP:0035029 Concentration of carnitine in the blood circulation above the upper limit of normal. 2023-07-21T13:18:04Z human_phenotype HP:0035030 Elevated circulating carnitine concentration HP:0035030 Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal. 2023-07-21T13:20:50Z Elevated circulating C5:1 acylcarnitine concentration human_phenotype HP:0035031 Elevated circulating tiglylcarnitine concentration HP:0035031 Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain. 2023-07-21T13:22:28Z Reduced circulating C2 acylcarnitine concentration human_phenotype HP:0035032 Reduced circulating acetylcarnitine concentration HP:0035032 The concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation is below the lower limit of normal. 2023-07-21T13:24:07Z Decreased O-octadecenoylcarnitine concentration Decreased O-octadecenoylcarnitine level Decreased O-octadecenoylcarnitine level in blood Decreased circulating octadecenoylcarnitine concentration Reduced O-octadecenoylcarnitine concentration Reduced O-octadecenoylcarnitine level Reduced O-octadecenoylcarnitine level in blood Reduced circulating C18:1 acylcarnitine concentration human_phenotype HP:0035033 Decreased circulating octadecenoylcarnitine concentration HP:0035033 UMLS:C4022500 human_phenotype HP:0040004 Abnormality of corneal shape HP:0040004 UMLS:C4022499 human_phenotype HP:0040006 Mortality/Aging HP:0040006 Lack of skin pigmentation (coloring) of the chest. UMLS:C4022498 Lack of skin coloring on chest Lack of skin colouring on chest human_phenotype HP:0040007 Absent pigmentation of chest HP:0040007 Lack of skin pigmentation (coloring) of the chest. https://orcid.org/0000-0002-5316-1399 Lack of skin coloring on chest https://orcid.org/0000-0001-5208-3432 Lack of skin colouring on chest Failure of development of facial skeleton UMLS:C1385254 UMLS:C4022497 UMLS:C4280300 UMLS:C4280301 Absence of facial bones Agenesis of facial bones Aplasia of facial skeleton Failure of development of facial bones Missing facial bones human_phenotype HP:0040008 Aplasia of facial bones HP:0040008 Failure of development of facial skeleton https://orcid.org/0000-0001-5889-4463 Absence of facial bones https://orcid.org/0000-0001-5889-4463 Agenesis of facial bones https://orcid.org/0000-0001-5889-4463 Aplasia of facial skeleton https://orcid.org/0000-0001-5889-4463 Failure of development of facial bones https://orcid.org/0000-0001-5889-4463 Missing facial bones https://orcid.org/0000-0001-5889-4463 Histological term to illustrate the combined presence of parakeratosis and hyperkeratosis. Abnormal keratinization of the epidermal stratum corneum (horny layer) with increased keratin formation and preservation of the nuclei in the superficial cells. SNOMEDCT_US:125554003 UMLS:C1265968 Parahyperkeratosis Parakeratotic hyperkeratosis human_phenotype HP:0040009 Hyperparakeratosis HP:0040009 UMLS:C4022496 human_phenotype HP:0040010 Small posterior fossa HP:0040010 UMLS:C4022495 human_phenotype HP:0040011 Flat posterior fossa HP:0040011 Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. UMLS:C0376628 High frequency of chromosome breaks in lymphocytes Increased chromosomal breakage Increased chromosomal breakage rate Multiple chromosomal breaks Tendency to chromosomal breakage human_phenotype HP:0040012 Chromosome breakage HP:0040012 Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. PMID:12407692 https://orcid.org/0000-0002-0736-9199 UMLS:C4022493 human_phenotype HP:0040013 Decreased mitochondrial number HP:0040013 UMLS:C4022492 human_phenotype HP:0040014 Increased mitochondrial number HP:0040014 UMLS:C4022491 human_phenotype HP:0040015 Increased activity of mitochondrial respiratory chain HP:0040015 UMLS:C4022490 Prominent tailbone human_phenotype HP:0040016 Prominent coccyx HP:0040016 Prominent tailbone https://orcid.org/0000-0001-5208-3432 UMLS:C4022489 Protruding tailbone human_phenotype HP:0040017 Protruding coccyx HP:0040017 Protruding tailbone https://orcid.org/0000-0001-5208-3432 Curvature of big toe UMLS:C4022488 UMLS:C4280299 human_phenotype HP:0040018 Clinodactyly of hallux HP:0040018 Curvature of big toe https://orcid.org/0000-0001-5208-3432 Curvature of finger SNOMEDCT_US:17268007 UMLS:C0265610 UMLS:C4280298 human_phenotype HP:0040019 Finger clinodactyly HP:0040019 Curvature of finger https://orcid.org/0000-0001-5208-3432 UMLS:C4022487 human_phenotype HP:0040020 Radial deviation of the 5th finger HP:0040020 HP:0001234 human_phenotype HP:0040021 obsolete Radial deviation of the thumb true HP:0040021 Curvature of index finger UMLS:C4022486 Second finger clinodactyly human_phenotype HP:0040022 Clinodactyly of the 2nd finger HP:0040022 Curvature of index finger https://orcid.org/0000-0001-5208-3432 Curvature of thumb UMLS:C1856888 UMLS:C4280297 human_phenotype HP:0040023 Clinodactyly of the thumb HP:0040023 Curvature of thumb https://orcid.org/0000-0001-5208-3432 Curvature of middle finger UMLS:C4022485 UMLS:C4280296 human_phenotype HP:0040024 Clinodactyly of the 3rd finger HP:0040024 Curvature of middle finger https://orcid.org/0000-0001-5208-3432 Curvature of ring finger UMLS:C4022484 UMLS:C4280295 human_phenotype HP:0040025 Clinodactyly of the 4th finger HP:0040025 Curvature of ring finger https://orcid.org/0000-0001-5208-3432 Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy. UMLS:C4022483 human_phenotype HP:0040030 Chorioretinal hypopigmentation HP:0040030 Focal or global or heterogeneous loss of choroidal and retinal pigment epithelium (RPE) pigmentation in the absence of atrophy. PMID:40379107 UMLS:C4022482 human_phenotype HP:0040031 Chorioretinal hyperpigmentation HP:0040031 Small upper eyelid UMLS:C4022481 Decreased size of upper eyelid Underdevelopment of upper eyelid Short upper eyelid human_phenotype Hypotrophic upper eyelid HP:0040032 Hypoplasia of the upper eyelids HP:0040032 Small upper eyelid https://orcid.org/0000-0001-5889-4463 Decreased size of upper eyelid https://orcid.org/0000-0001-5889-4463 Underdevelopment of upper eyelid https://orcid.org/0000-0001-5889-4463 Short upper eyelid https://orcid.org/0000-0001-5889-4463 Hypotrophic upper eyelid https://orcid.org/0000-0001-5889-4463 UMLS:C4022480 Absent/small 5th long bone of foot Absent/underdeveloped 5th long bone of foot human_phenotype HP:0040033 Aplasia/Hypoplasia of the fifth metatarsal bone HP:0040033 Absent/small 5th long bone of foot https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped 5th long bone of foot https://orcid.org/0000-0001-5208-3432 UMLS:C4022479 Abnormality of the 2nd long bone of foot human_phenotype HP:0040034 Abnormality of the second metatarsal bone HP:0040034 Abnormality of the 2nd long bone of foot https://orcid.org/0000-0001-5208-3432 UMLS:C4022478 Abnormality of the 4th long bone of foot human_phenotype HP:0040035 Abnormality of the fourth metatarsal bone HP:0040035 Abnormality of the 4th long bone of foot https://orcid.org/0000-0001-5208-3432 Thickened fingernails. UMLS:C4022477 Overgrowth and curving of fingernail human_phenotype HP:0040036 Onychogryphosis of fingernail HP:0040036 Overgrowth and curving of fingernail https://orcid.org/0000-0001-5208-3432 HP:0012742 human_phenotype HP:0040037 obsolete Thin fingernail (obsolete) true HP:0040037 HP:0012746 human_phenotype HP:0040038 obsolete Thin toenail true HP:0040038 UMLS:C3553044 Detachment of fingernails Onycholysis of fingernail human_phenotype HP:0040039 Onycholysis of fingernails HP:0040039 Detachment of fingernails https://orcid.org/0000-0001-5208-3432 Painless and spontaneous separation of a toenail from the nail bed. UMLS:C4022476 Detachment of toenails Onycholysis of toenails human_phenotype HP:0040040 Toenail onycholysis HP:0040040 Detachment of toenails https://orcid.org/0000-0001-5208-3432 UMLS:C4022475 Absent eccrine sweat glands human_phenotype HP:0040042 Aplasia of the eccrine sweat glands HP:0040042 Absent eccrine sweat glands https://orcid.org/0000-0001-5208-3432 UMLS:C4022474 Underdeveloped major sweat glands human_phenotype HP:0040043 Hypoplasia of the eccrine sweat glands HP:0040043 Underdeveloped major sweat glands https://orcid.org/0000-0001-6908-9849 UMLS:C4022473 Underdeveloped diaphragm human_phenotype HP:0040044 Hypoplasia of the diaphragm HP:0040044 Underdeveloped diaphragm https://orcid.org/0000-0001-5208-3432 UMLS:C4022472 Abnormality of the hemidiaphragms human_phenotype HP:0040045 Abnormal hemidiaphragm morphology HP:0040045 UMLS:C4022471 Abnormality of the left hemidiaphragm human_phenotype HP:0040046 Abnormal left hemidiaphragm morphology HP:0040046 UMLS:C4022470 Abnormality of the right hemidiaphragm human_phenotype HP:0040047 Abnormal right hemidiaphragm morphology HP:0040047 HP:0009112 human_phenotype HP:0040048 obsolete Aplasia of the left hemidiaphragm true HP:0040048 Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. SNOMEDCT_US:37231002 UMLS:C0271051 Macular oedema human_phenotype HP:0040049 Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. Macular edema HP:0040049 Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect. PMID:35015421 https://orcid.org/0000-0003-0986-4123 Macular oedema UMLS:C4022468 Hypotrichosis of upper eyelashes Partial absence of upper eyelashes Sparse upper eyelashes human_phenotype HP:0040050 Sparse upper eyelashes HP:0040050 Hypotrichosis of upper eyelashes https://orcid.org/0000-0001-5889-4463 Partial absence of upper eyelashes https://orcid.org/0000-0001-5889-4463 Sparse upper eyelashes UMLS:C4022467 Abnormality of upper eyelashes human_phenotype HP:0040051 Abnormality of upper eyelashes HP:0040051 Abnormality of upper eyelashes UMLS:C4022466 Abnormality of lower eyelashes human_phenotype HP:0040052 Abnormality of lower eyelashes HP:0040052 Abnormality of lower eyelashes UMLS:C4022465 Ciliary trichomegaly of lower eyelashes Increased length of lower eyelashes Long lower eyelashes human_phenotype HP:0040053 Long lower eyelashes HP:0040053 Increased length of lower eyelashes https://orcid.org/0000-0001-5889-4463 Long lower eyelashes UMLS:C4022464 Decreased length of upper eyelashes Short upper eyelashes human_phenotype HP:0040054 Short upper eyelashes HP:0040054 Decreased length of upper eyelashes https://orcid.org/0000-0001-5889-4463 Short upper eyelashes UMLS:C4022463 Decreased length of lower eyelashes Short lower eyelashes human_phenotype HP:0040055 Short lower eyelashes HP:0040055 Decreased length of lower eyelashes https://orcid.org/0000-0001-5889-4463 Short lower eyelashes UMLS:C4022462 UMLS:C4280255 UMLS:C4280294 Absent upper eyelashes Atrichia of upper eyelashes Failure of development of upper eyelashes Agenesis of upper eyelashes Aplasia of upper eyelashes human_phenotype HP:0040056 Absent upper eyelashes HP:0040056 Absent upper eyelashes Failure of development of upper eyelashes https://orcid.org/0000-0001-5889-4463 Agenesis of upper eyelashes https://orcid.org/0000-0001-5889-4463 Aplasia of upper eyelashes https://orcid.org/0000-0001-5889-4463 UMLS:C4021858 Abnormality of nasal hair Abnormality of nose hair human_phenotype HP:0040057 Abnormal nasal hair morphology HP:0040057 Abnormality of nasal hair Abnormality of nose hair https://orcid.org/0000-0001-5889-4463 UMLS:C4022461 human_phenotype HP:0040059 Calcification of ribs HP:0040059 UMLS:C4022460 human_phenotype HP:0040061 Osteosclerosis of the radius HP:0040061 UMLS:C1968813 human_phenotype HP:0040062 Slender radius HP:0040062 The amount of adipose tissue (fat) in the body or a part of the body is below the lower limit of normal. UMLS:C4022459 Decreased fat tissue human_phenotype HP:0040063 Decreased adipose tissue HP:0040063 The amount of adipose tissue (fat) in the body or a part of the body is below the lower limit of normal. PMID:35120662 Decreased fat tissue https://orcid.org/0000-0001-5208-3432 SNOMEDCT_US:445144002 UMLS:C0239337 UMLS:C4073131 Abnormal limbs Abnormality of limbs Limb anomaly human_phenotype Dysmelia HP:0040064 Abnormality of limbs HP:0040064 Abnormal limbs https://orcid.org/0000-0002-5316-1399 Abnormality of limbs Limb anomaly https://orcid.org/0000-0001-5208-3432 Dysmelia https://orcid.org/0000-0002-0736-9199 HP:0040070 human_phenotype HP:0040065 obsolete Abnormal morphology of bones of the upper limbs true HP:0040065 HP:0040069 human_phenotype HP:0040066 obsolete Abnormal morphology of bones of the lower limbs true HP:0040066 UMLS:C4022456 Abnormality of limb bone human_phenotype HP:0040068 Abnormality of limb bone HP:0040068 Abnormality of limb bone HP:0040066 UMLS:C4022455 UMLS:C4022457 Abnormal morphology of bones of the lower limbs Abnormal shape of bones of the lower limbs Abnormality of lower limb bone human_phenotype HP:0040069 Abnormal lower limb bone morphology HP:0040069 Abnormal shape of bones of the lower limbs Abnormality of lower limb bone HP:0040065 UMLS:C4022454 UMLS:C4022458 Abnormal morphology of bones of the upper limbs Abnormal shape of bones of the upper limbs Abnormality of upper limb bone human_phenotype HP:0040070 Abnormal upper limb bone morphology HP:0040070 Abnormal shape of bones of the upper limbs Abnormality of upper limb bone Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. HP:0002997 UMLS:C4022453 human_phenotype HP:0040071 Abnormal morphology of ulna HP:0040071 HP:0040073 UMLS:C4022452 Abnormality of forearm bone human_phenotype HP:0040072 Abnormal forearm bone morphology HP:0040072 Abnormality of forearm bone HP:0040072 human_phenotype HP:0040073 obsolete Abnormal forearm bone morphology true HP:0040073 SNOMEDCT_US:74728003 UMLS:C0020635 human_phenotype HP:0040075 Hypopituitarism HP:0040075 HP:0004363 human_phenotype HP:0040077 obsolete Abnormal concentration of calcium in blood true HP:0040077 UMLS:C1837496 human_phenotype HP:0040078 Axonal degeneration HP:0040078 UMLS:C1856765 Irregular teeth human_phenotype HP:0040079 Irregular dentition HP:0040079 Irregular teeth https://orcid.org/0000-0001-5889-4463 UMLS:C1857055 human_phenotype HP:0040080 Anteverted ears HP:0040080 Any deviation from the normal activity of creatine kinase in the blood circulation. UMLS:C4022449 Abnormal circulating CK concentration Abnormal circulating CPK concentration Abnormal circulating creatine kinase activity Abnormal circulation phospho-CK concentration Abnormal creatine kinase level Abnormal levels of creatine kinase in blood human_phenotype HP:0040081 Abnormal circulating creatine kinase activity HP:0040081 Abnormal circulating CK concentration https://orcid.org/0000-0001-7941-2961 Abnormal circulating CPK concentration https://orcid.org/0000-0001-7941-2961 Abnormal levels of creatine kinase in blood A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation. UMLS:C1856115 Happy demeanor Happy demeanour human_phenotype HP:0040082 Happy demeanor HP:0040082 Happy demeanor Happy demeanour Toe walking is a pattern of walking in which a person walks on balls of his or her feet, with no contact between the heels and ground. Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistence of toe-walking beyond the usual age. HP:0030051 human_phenotype HP:0040083 obsolete Toe walking true HP:0040083 Toe walking is a pattern of walking in which a person walks on balls of his or her feet, with no contact between the heels and ground. Toe-walking is common in children who are learning to walk, but most children outgrow it around the age of two years. This term refers to the persistence of toe-walking beyond the usual age. PMID:26709689 A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. UMLS:C4021038 Abnormal circulating renin Abnormal plasma renin human_phenotype HP:0040084 Abnormal circulating renin concentration HP:0040084 A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. PMID:12949225 Abnormal circulating renin Abnormal plasma renin https://orcid.org/0000-0002-5316-1399 UMLS:C0857898 Abnormal circulating aldosterone Abnormal plasma aldosterone human_phenotype HP:0040085 Abnormal circulating aldosterone concentration HP:0040085 Abnormal circulating aldosterone Abnormal plasma aldosterone https://orcid.org/0000-0002-5316-1399 UMLS:C4022448 Abnormal prolactin level human_phenotype HP:0040086 Abnormal prolactin level HP:0040086 Abnormal prolactin level Any deviation from the normal concentration of folate in the blood circulation. HP:0012335 UMLS:C4021037 Abnormal blood folate concentration Abnormal serum folate Abnormality of folate in blood human_phenotype Abnormality of folate metabolism HP:0040087 Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and fruit. As a major methyl group donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy. Abnormal circulating folate concentration HP:0040087 Abnormal serum folate https://orcid.org/0000-0002-5316-1399 Any abnormality in the total number of lymphocytes in the blood. SNOMEDCT_US:165534000 UMLS:C0580550 Abnormal lymphocyte count Abnormal lymphocyte counts Abnormal number of lymphocytes Abnormal numbers of lymphocytes Abnormality of lymphocyte number human_phenotype HP:0040088 Abnormal lymphocyte count HP:0040088 Abnormal lymphocyte count Abnormal lymphocyte counts https://orcid.org/0000-0002-5316-1399 Abnormal number of lymphocytes https://orcid.org/0000-0002-5316-1399 Abnormal numbers of lymphocytes Abnormality of lymphocyte number https://orcid.org/0000-0002-5316-1399 Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. UMLS:C4021036 Abnormal NK cell count Abnormal number of natural killer cells Abnormality of natural killer cell count human_phenotype HP:0040089 In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority. Abnormal total natural killer cell count HP:0040089 Abnormal increase or decrease of total natural killer (NK) cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood, per microlitre, or altered NK cell phenotype, compared to a reference range for a given sex and age-group, measured ex vivo. PMID:19278419 Abnormal NK cell count Abnormal number of natural killer cells https://orcid.org/0000-0002-5316-1399 Abnormality of natural killer cell count https://orcid.org/0000-0002-5316-1399 Any structural abnormality of the tympanic membrane UMLS:C4022447 Abnormality of the eardrum Abnormality of the tympanic membrane human_phenotype HP:0040090 The tympanic membrane is considered to be the border of middle and outer ear. Abnormal tympanic membrane morphology HP:0040090 Abnormality of the eardrum https://orcid.org/0000-0001-5208-3432 UMLS:C4022446 Asymmetry of the size of ears human_phenotype HP:0040091 Asymmetry of the size of ears HP:0040091 Asymmetry of the size of ears UMLS:C4022445 Asymmetry of the shape of the ears human_phenotype HP:0040092 Asymmetry of the shape of the ears HP:0040092 Asymmetry of the shape of the ears Uneven ears UMLS:C4022444 human_phenotype HP:0040093 Asymmetry of the position of the ears HP:0040093 Uneven ears https://orcid.org/0000-0001-5208-3432 A tumor (abnormal growth of tissue) of the outer ear. NCIT:C3262 UMLS:C4022443 Outer ear tumor Outer ear tumour human_phenotype HP:0040095 Neoplasm of the outer ear HP:0040095 A tumor (abnormal growth of tissue) of the outer ear. https://orcid.org/0000-0002-0736-9199 Outer ear tumor https://orcid.org/0000-0001-5208-3432 Outer ear tumour A tumor (abnormal growth of tissue) of the inner ear. NCIT:C3262 UMLS:C1512779 Inner ear tumor Inner ear tumour human_phenotype HP:0040096 Neoplasm of the inner ear HP:0040096 A tumor (abnormal growth of tissue) of the inner ear. https://orcid.org/0000-0002-0736-9199 Inner ear tumor https://orcid.org/0000-0001-5208-3432 Inner ear tumour A tumor (abnormal growth of tissue) of the ceruminal gland. NCIT:C3262 SNOMEDCT_US:403945001 SNOMEDCT_US:52707009 UMLS:C0334352 Adenoma of the ceruminous gland Ceruminoma Ceruminous adenoma human_phenotype HP:0040097 Neoplasm of the ceruminal gland HP:0040097 A tumor (abnormal growth of tissue) of the ceruminal gland. https://orcid.org/0000-0002-0736-9199 UMLS:C4022442 human_phenotype HP:0040098 Basalioma of the outer ear HP:0040098 UMLS:C4022441 human_phenotype HP:0040099 Abnormality of the round window HP:0040099 UMLS:C4021035 Abnormality of the oval window human_phenotype HP:0040100 Abnormality of the vestibular window HP:0040100 UMLS:C4022440 human_phenotype HP:0040101 Cutaneous atresia of the external auditory canal HP:0040101 UMLS:C4022439 human_phenotype HP:0040102 Osseous atresia of the external auditory canal HP:0040102 Stenosis or narrowing of the external ear canal (EAC) occurs lateral to the tympanic membrane resulting in a skin lined blind canal. UMLS:C4022438 Acquired medial canal fibrosis Cutaneous stenosis of the external auditory canal Medial meatal fibrosis Obliterative otitis externa human_phenotype HP:0040103 Acquired stenosis of the external ear canal typically presents as recurrent otorrhea, conductive hearing loss, often with significant cerumen impaction and ear canal cholesteatoma. Different etiologies such as chronic otitis externa, dermatologic diseases, iatrogenic (previous ear surgery or radiotherapy) or accidental rauma, tumor and inflammation lead to scarring/fibrosis and subsequent stenosis of the ear canal. Acquired stenosis of the external ear canal HP:0040103 A narrowing of the bony part of the ear canal, which can be congenital or acquired through causes like chronic infections, trauma, or radiation therapy. UMLS:C4022437 human_phenotype HP:0040104 Osseous stenosis of the external auditory canal HP:0040104 UMLS:C4021034 Morphological abnormality of the horizontal semicircular canal Morphological abnormality of the lateral semicircular canal human_phenotype HP:0040106 Abnormal lateral semicircular canal morphology HP:0040106 UMLS:C4022436 Morphological abnormality of the posterior semicircular canal human_phenotype HP:0040107 Abnormal posterior semicircular canal morphology HP:0040107 UMLS:C4022435 Morphological abnormality of the anterior semicircular canal human_phenotype HP:0040108 Abnormal anterior semicircular canal morphology HP:0040108 UMLS:C4022434 Morphological abnormality of the utricle human_phenotype HP:0040109 Abnormal utricle morphology HP:0040109 HP:0030999 UMLS:C4022433 human_phenotype HP:0040110 obsolete Abnormal saccule morphology true HP:0040110 HP:0000377 human_phenotype HP:0040111 obsolete Bilateral external ear deformity true HP:0040111 UMLS:C4022431 human_phenotype HP:0040112 Abnormal number of tubercles HP:0040112 SNOMEDCT_US:49526009 UMLS:C0033074 Presbycusis human_phenotype HP:0040113 Old-aged sensorineural hearing impairment HP:0040113 UMLS:C4022430 human_phenotype HP:0040114 Absence of the reflex of the tensor tympani muscle HP:0040114 A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. HP:0040124 SNOMEDCT_US:204250005 UMLS:C0262475 Abnormality of the Eustachian tube human_phenotype HP:0040115 Abnormal Eustachian tube morphology HP:0040115 A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders. PMID:34383758 SNOMEDCT_US:75231006 UMLS:C0266616 Absent eustachian tube human_phenotype HP:0040116 Aplasia of the Eustachian tube HP:0040116 Absent eustachian tube https://orcid.org/0000-0001-5208-3432 UMLS:C1388953 human_phenotype HP:0040117 Atresia of the Eustachian tube HP:0040117 SNOMEDCT_US:80101003 UMLS:C0271469 human_phenotype HP:0040118 Stenosis of the Eustachian tube HP:0040118 UMLS:C4022428 human_phenotype HP:0040119 Unilateral conductive hearing impairment HP:0040119 UMLS:C4022427 human_phenotype HP:0040120 Abnormality of the reflex of the tensor tympani muscle HP:0040120 An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. UMLS:C4022426 Abnormal auditory reflex Abnormal middle-ear-muscles (MEM) reflex Abnormality of stapedial reflex human_phenotype HP:0040121 Abnormality of the acoustic reflex HP:0040121 UMLS:C4022425 human_phenotype HP:0040122 Impairment of the the acoustic reflex HP:0040122 UMLS:C4022424 human_phenotype HP:0040123 Impairment of the reflex of the tensor tympani muscle HP:0040123 HP:0040115 human_phenotype HP:0040124 obsolete Patent tuba eustachii true HP:0040124 HP:0004341 human_phenotype HP:0040126 obsolete Abnormal circulating vitamin B12 concentration true HP:0040126 An abnormality of the composition of sweat or the levels of its components. UMLS:C4022423 human_phenotype HP:0040127 Abnormal sweat homeostasis HP:0040127 UMLS:C4022422 human_phenotype HP:0040128 Abnormal sweat electrolytes HP:0040128 UMLS:C1866772 Abnormal nerve conduction Abnormal nerve conduction velocities Nerve conduction abnormalities human_phenotype HP:0040129 Abnormal nerve conduction velocity HP:0040129 The concentration of iron in the blood circulation is outside the limits of normal. UMLS:C0235760 Abnormal serum iron concentration human_phenotype HP:0040130 Abnormal circulating iron concentration HP:0040130 UMLS:C4021031 human_phenotype HP:0040131 Abnormal motor nerve conduction velocity HP:0040131 UMLS:C4022421 human_phenotype HP:0040132 Abnormal sensory nerve conduction velocity HP:0040132 A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. UMLS:C0853228 Abnormal plasma ferritin Abnormal serum ferritin human_phenotype HP:0040133 Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation. Abnormal circulating ferritin concentration HP:0040133 A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. PMID:29723227 https://orcid.org/0000-0002-0736-9199 Abnormal serum ferritin UMLS:C4022420 Abnormal liver iron concentration Abnormal liver iron level human_phenotype HP:0040134 Abnormal hepatic iron concentration HP:0040134 Abnormal liver iron concentration https://orcid.org/0000-0001-5208-3432 Abnormal liver iron level https://orcid.org/0000-0002-5316-1399 Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. UMLS:C4022419 human_phenotype HP:0040135 Abnormal transferrin saturation HP:0040135 Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. PMID:15083853 A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. UMLS:C4022418 human_phenotype Comedogenic acne HP:0040137 Comedonal acne HP:0040137 A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. PMID:18177407 Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. SNOMEDCT_US:87412005 UMLS:C0334126 Histiocytosis, mucinous human_phenotype HP:0040138 Mucinous histiocytosis HP:0040138 Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone. PMID:10606860 Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. SNOMEDCT_US:189099001 SNOMEDCT_US:36279001 SNOMEDCT_US:416439000 UMLS:C1704214 human_phenotype HP:0040139 Usually caused by a faulty lipid metabolism Lipogranulomatosis HP:0040139 UMLS:C4022417 human_phenotype HP:0040140 Degeneration of the striatum HP:0040140 UMLS:C0686347 human_phenotype HP:0040141 the involuntary movements are tardive, meaning they have a slow or belated onset Tardive dyskinesia HP:0040141 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. SNOMEDCT_US:26132002 UMLS:C0268525 5-oxoprolinase deficiency Reduced 5-oxoprolinase level human_phenotype HP:0040142 Reduced circulating 5-oxoprolinase activity HP:0040142 Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. PMID:6790862 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus UMLS:C3552843 human_phenotype HP:0040143 Dystopic os odontoideum HP:0040143 An increase in the level of L-2-hydroxyglutaric acid in the urine. SNOMEDCT_US:237961001 UMLS:C1855995 human_phenotype HP:0040144 L-2-hydroxyglutaric aciduria HP:0040144 An increase in the level of L-2-hydroxyglutaric acid in the urine. https://orcid.org/0000-0001-5208-3432 The concentration of dicarboxylic acid in the blood circulation is above the upper limit of normal. UMLS:C4022416 Dicarboxylic acidemia Elevated dicarboxylic acid concentration Elevated dicarboxylic acid level Elevated dicarboxylic acid level in blood Increased dicarboxylic acid concentration Increased dicarboxylic acid level Increased dicarboxylic acid level in blood human_phenotype HP:0040145 Dicarboxylic acidemia HP:0040145 UMLS:C4022415 human_phenotype HP:0040146 D-2-hydroxyglutaric acidemia HP:0040146 UMLS:C3888081 human_phenotype HP:0040147 L-2-hydroxyglutaric acidemia HP:0040147 Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). SNOMEDCT_US:698835006 UMLS:C3698239 human_phenotype HP:0040148 Cortical myoclonus HP:0040148 Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). PMID:21339907 The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Nappy scalp hair texture UMLS:C4015203 UMLS:C4280291 UMLS:C4280292 UMLS:C4280293 Wooly scalp hair human_phenotype Afro-textured scalp hair Kinky scalp hair texture HP:0040149 Woolly scalp hair HP:0040149 The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. PMID:20464096 Nappy scalp hair texture https://orcid.org/0000-0001-5889-4463 Afro-textured scalp hair https://orcid.org/0000-0001-5889-4463 Kinky scalp hair texture https://orcid.org/0000-0001-5889-4463 UMLS:C1851582 human_phenotype HP:0040150 Epiblepharon of upper lid HP:0040150 UMLS:C1851583 human_phenotype HP:0040151 Epiblepharon of lower lid HP:0040151 A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. SNOMEDCT_US:59393003 UMLS:C0162836 Hidradenitis suppurativa Pyoderma fistulans significa Smoker's boils Verneuil's disease human_phenotype HP:0040154 Acne inversa HP:0040154 A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. https://www.news-medical.net/health/What-is-Hidradenitis-suppurativa-(acne-inversa).aspx Hidradenitis suppurativa https://orcid.org/0000-0001-5208-3432 Pyoderma fistulans significa PMID:23439959 Smoker's boils PMID:23439959 Verneuil's disease PMID:23439959 An increased amount of 3-hydroxybutyric acid in the urine. UMLS:C4022414 human_phenotype HP:0040155 Elevated urinary 3-hydroxybutyric acid HP:0040155 An increased amount of carboxylic acid in the urine. UMLS:C4022413 human_phenotype HP:0040156 Elevated urinary carboxylic acid HP:0040156 UMLS:C4022412 human_phenotype HP:0040157 Abnormal intermamillary distance HP:0040157 UMLS:C4022411 human_phenotype HP:0040158 Short intermamillary distance HP:0040158 UMLS:C4022410 Abnormal spaced incisors Abnormality of spacing of front teeth Abnormality of spacing of incisors human_phenotype HP:0040159 Abnormal spaced incisors HP:0040159 Abnormal spaced incisors Abnormality of spacing of front teeth https://orcid.org/0000-0001-5889-4463 Abnormality of spacing of incisors https://orcid.org/0000-0001-5889-4463 HP:0005744 SNOMEDCT_US:64859006 UMLS:C0029456 UMLS:C3805887 Generalised osteoporosis human_phenotype Generalised osteoporosis with pathologic fractures Generalized osteoporosis with pathologic fractures HP:0040160 Generalized osteoporosis HP:0040160 Generalised osteoporosis Generalised osteoporosis with pathologic fractures UMLS:C1398367 Localised osteoporosis human_phenotype HP:0040161 Localized osteoporosis HP:0040161 Localised osteoporosis Formation of an anuclear keratin layer SNOMEDCT_US:708474007 UMLS:C1843359 human_phenotype HP:0040162 Orthokeratosis HP:0040162 UMLS:C4073132 Abnormal shape of pelvis bone human_phenotype HP:0040163 Abnormal pelvis bone morphology HP:0040163 Abnormal shape of pelvis bone https://orcid.org/0000-0001-5208-3432 Fatty tumors on the eyelids. UMLS:C4073133 Fatty tumors on the eyelids Fatty tumours on the eyelids human_phenotype HP:0040164 Eyelid lipomas Lipomas of eyelids HP:0040164 Fatty tumors on the eyelids. https://orcid.org/0000-0003-0986-4123 Fatty tumors on the eyelids https://orcid.org/0000-0001-5889-4463 Fatty tumours on the eyelids Inflammation of the periosteum SNOMEDCT_US:41910004 UMLS:C0031111 Periostalgia human_phenotype HP:0040165 Periostitis HP:0040165 HP:0030313 human_phenotype HP:0040166 obsolete Abnormality of the periosteum true HP:0040166 SNOMEDCT_US:240533004 UMLS:C0343643 Facial verruca Facial wart human_phenotype HP:0040167 A very specific feature of Costello Syndrome Facial papilloma HP:0040167 Facial verruca https://orcid.org/0000-0001-5889-4463 Facial wart https://orcid.org/0000-0001-5889-4463 HP:0007359 human_phenotype HP:0040168 obsolete Focal seizures, afebril true HP:0040168 UMLS:C3554793 human_phenotype HP:0040169 Loose anagen hair HP:0040169 UMLS:C4073136 human_phenotype HP:0040170 Abnormality of hair growth HP:0040170 HP:0008230 Decreased testosterone SNOMEDCT_US:131078003 UMLS:C1295654 UMLS:C4073137 Decreased serum testosterone level Decreased serum testosterone levels Low serum testosterone level Low serum testosterone levels human_phenotype HP:0040171 Decreased serum testosterone concentration HP:0040171 Decreased testosterone https://orcid.org/0000-0002-5316-1399 Decreased serum testosterone level Decreased serum testosterone levels https://orcid.org/0000-0002-5316-1399 Low serum testosterone level https://orcid.org/0000-0002-5316-1399 Low serum testosterone levels https://orcid.org/0000-0002-5316-1399 UMLS:C4073138 human_phenotype HP:0040172 Abnormality of occipitofrontalis muscle HP:0040172 UMLS:C4073139 Abnormality of lingual muscle Abnormality of the tongue muscle human_phenotype HP:0040173 Abnormality of the tongue muscle HP:0040173 Abnormality of lingual muscle https://orcid.org/0000-0001-5889-4463 Abnormality of the tongue muscle UMLS:C4073140 Abnormality of extrinsic lingual muscle human_phenotype HP:0040174 Abnormality of extrinsic muscle of tongue HP:0040174 Abnormality of extrinsic lingual muscle https://orcid.org/0000-0001-5889-4463 Reduced level of platelet-activating factor acetylhydrolase. 2015-08-24T17:34:58Z UMLS:C3280315 human_phenotype HP:0040175 Platelet-activating factor acetylhydrolase deficiency HP:0040175 Any deviation from the normal concentration of a phospholipid in the blood circulation. 2015-08-24T17:34:58Z UMLS:C4073141 Abnormal level of phospholipids human_phenotype HP:0040176 Abnormal circulating phospholipid concentration HP:0040176 2015-08-24T17:34:58Z UMLS:C4073142 Abnormal level of PAF human_phenotype HP:0040177 Abnormal level of platelet-activating factor HP:0040177 2015-08-24T17:34:58Z UMLS:C4073143 Increased level of PAF human_phenotype HP:0040178 Increased level of platelet-activating factor HP:0040178 2015-08-24T17:34:58Z UMLS:C4073144 Decreased level of PAF human_phenotype HP:0040179 Decreased level of platelet-activating factor HP:0040179 HP:0032152 2015-08-26T17:27:21Z human_phenotype HP:0040180 obsolete Hyperkeratosis pilaris true HP:0040180 Cracking, fissuring, and peeling of the skin of the lips. 2015-09-11T15:03:51Z SNOMEDCT_US:16459000 SNOMEDCT_US:238751002 SNOMEDCT_US:248182008 SNOMEDCT_US:402294001 UMLS:C0263449 UMLS:C0424489 Chapped lip Chapped lips Cheilitis simplex Common cheilitis Dry lips human_phenotype Perioral dermatitis HP:0040181 Chapped lip HP:0040181 Chapped lip Chapped lips Cheilitis simplex https://orcid.org/0000-0001-5889-4463 Common cheilitis https://orcid.org/0000-0001-5889-4463 Dry lips Perioral dermatitis https://orcid.org/0000-0001-5889-4463 Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. 2015-09-11T15:40:53Z SNOMEDCT_US:425582007 UMLS:C1881170 human_phenotype HP:0040182 Inappropriate sinus tachycardia HP:0040182 Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands. PMID:15763524 https://orcid.org/0000-0002-0736-9199 2015-09-11T15:47:04Z SNOMEDCT_US:302690004 UMLS:C2945606 Stool holding Stool soiling human_phenotype HP:0040183 Encopresis HP:0040183 Stool holding https://orcid.org/0000-0001-5208-3432 Stool soiling https://orcid.org/0000-0001-5208-3432 2015-09-11T16:00:48Z SNOMEDCT_US:22490002 UMLS:C0029163 Oral bleeding Oral haemorrhage Oral hemorrhage human_phenotype HP:0040184 Oral bleeding HP:0040184 Oral bleeding Oral haemorrhage Oral hemorrhage https://orcid.org/0000-0001-5889-4463 2015-09-14T12:02:41Z UMLS:C2751260 Macrothrombozytopenia human_phenotype HP:0040185 Macrothrombocytopenia HP:0040185 A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. 2015-09-14T12:02:41Z SNOMEDCT_US:247471006 SNOMEDCT_US:47725002 UMLS:C0423791 human_phenotype HP:0040186 Maculopapular exanthema HP:0040186 A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. PMID:19398898 Systemic inflammatory response to infection in newborn babies. 2015-09-14T13:00:12Z SNOMEDCT_US:206376005 UMLS:C0456103 human_phenotype HP:0040187 Neonatal sepsis HP:0040187 Systemic inflammatory response to infection in newborn babies. PMID:4067741 Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. 2015-09-14T13:16:14Z SNOMEDCT_US:19579005 UMLS:C0029429 human_phenotype HP:0040188 Osteochondrosis HP:0040188 Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. 2015-09-16T11:22:26Z SNOMEDCT_US:14411002 SNOMEDCT_US:271767006 UMLS:C0237849 Desquamation Scaling skin Scaly skin flaking skin peeling skin human_phenotype Exfoliation HP:0040189 Scaling skin HP:0040189 Scaling skin Scaly skin flaking skin peeling skin 2015-09-16T11:22:26Z UMLS:C4073146 White scaling skin White scaly skin human_phenotype HP:0040190 White scaling skin HP:0040190 White scaling skin White scaly skin https://orcid.org/0000-0001-5208-3432 2015-09-21T13:44:28Z UMLS:C2083352 Atrophy of the rectus femoris muscles human_phenotype HP:0040191 Rectus femoris muscle atrophy HP:0040191 An endocrine tumor arising from an APUD cell. 2015-09-21T14:22:32Z SNOMEDCT_US:253008000 SNOMEDCT_US:74926005 UMLS:C0003650 amine precursor uptake and decarboxylation tumors amine precursor uptake and decarboxylation tumours human_phenotype HP:0040192 APUdoma HP:0040192 amine precursor uptake and decarboxylation tumours HP:0030408 2015-09-21T14:39:49Z human_phenotype HP:0040193 obsolete Pinealoblastoma true HP:0040193 An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. 2015-09-24T14:57:07Z UMLS:C4083076 Increased head circumference human_phenotype HP:0040194 Increased head circumference HP:0040194 Increased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. 2015-09-24T14:57:07Z SNOMEDCT_US:271611007 UMLS:C0424688 Decreased head circumference human_phenotype HP:0040195 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. Decreased head circumference HP:0040195 An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. PMID:26505062 Decreased head circumference Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). 2015-09-24T14:57:07Z UMLS:C1836806 human_phenotype HP:0040196 Mild microcephaly HP:0040196 Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. 2015-10-05T11:39:30Z SNOMEDCT_US:58762006 UMLS:C0014068 Cerebral softening human_phenotype HP:0040197 Encephalomalacia HP:0040197 Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. https://orcid.org/0000-0002-0003-6754 Cerebral softening https://orcid.org/0000-0002-5316-1399 2015-10-12T11:14:07Z UMLS:C3501843 Nonmedullary thyroid carcinoma Thyroid cancer, nonmedullary human_phenotype HP:0040198 Non-medullary thyroid carcinoma HP:0040198 HP:0011800 2015-10-16T12:54:41Z human_phenotype HP:0040199 obsolete Flat midface true HP:0040199 The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. 2015-10-21T10:56:43Z UMLS:C4073148 Negative chorea human_phenotype HP:0040200 Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. Motor impersistence HP:0040200 The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts. DOI:10.1007/978-0-387-79948-3_2046 https://orcid.org/0000-0002-0003-6754 Negative chorea https://orcid.org/0000-0002-0003-6754 Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions. DOI:10.1007/978-0-387-79948-3_2046 PMID:17353476 https://orcid.org/0000-0002-0736-9199 A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. 2015-10-21T10:56:43Z UMLS:C4073149 human_phenotype HP:0040201 Simultanapraxia HP:0040201 A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. DOI:10.1007/978-0-387-79948-3_2046 https://orcid.org/0000-0002-0003-6754 Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual. 2015-10-29T18:10:24Z UMLS:C4073150 Abnormal consumption behaviour human_phenotype HP:0040202 Abnormal consumption behavior HP:0040202 Abnormal consumption behaviour https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Abnormal concentration of neopterin in the cerebrospinal fluid (CSF). 2015-11-24T11:44:15Z UMLS:C4073151 Abnormal CSF neopterin level human_phenotype HP:0040203 Abnormal CSF neopterin concentration HP:0040203 Increased concentration of neopterin in the cerebrospinal fluid (CSF). 2015-11-24T11:44:15Z UMLS:C4073152 human_phenotype HP:0040204 Elevated CSF neopterin level HP:0040204 Decreased concentration of neopterin in the cerebrospinal fluid (CSF). 2015-11-24T11:44:15Z UMLS:C4073153 human_phenotype HP:0040205 Decreased CSF neopterin level HP:0040205 Any deviation from the normal concentration of neopterin in the blood circulation. 2015-11-24T11:44:15Z UMLS:C4073154 human_phenotype HP:0040206 Neopterin can be found to have abnormal level in blood, CSF, or urine. Abnormal circulating neopterin concentration HP:0040206 Abnormal concentration of a pterin in the cerebrospinal fluid (CSF). 2015-11-24T12:04:38Z UMLS:C4073155 Abnormal CSF biopterin level Abnormal cerebrospinal fluid biopterin level human_phenotype HP:0040207 Pterin is a coenzyme that occurs in various forms, such as biopterin, folic acid, xanthopterin, or methanopterin. Abnormal CSF pterin concentration HP:0040207 Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. 2015-11-24T12:04:38Z UMLS:C4073156 human_phenotype HP:0040208 Elevated CSF biopterin level HP:0040208 Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal. 2015-11-24T12:04:38Z UMLS:C4073157 Decreased cerebrospinal fluid biopterin level human_phenotype HP:0040209 Decreased CSF biopterin level HP:0040209 A deviation from the normal concentration of biopterin in the blood circulation. 2015-11-24T12:04:38Z UMLS:C4073158 human_phenotype HP:0040210 Abnormal circulating biopterin concentration HP:0040210 An abnormality of the skin of the palm, that is, the skin of the front of the hand. 2015-11-24T17:32:19Z UMLS:C4073159 human_phenotype HP:0040211 Abnormal skin morphology of the palm HP:0040211 Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles. 2015-11-24T17:53:05Z SNOMEDCT_US:64314006 UMLS:C0343494 Rictus grin human_phenotype HP:0040212 Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus. Risus sardonicus HP:0040212 Hypopnea is referring to breathing that is abnormally shallow. 2016-01-12T16:41:42Z SNOMEDCT_US:386614005 UMLS:C0235546 Shallow breathing human_phenotype HP:0040213 Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing. Hypopnea HP:0040213 Shallow breathing An abnormal concentration of insulin in the body. 2016-01-12T16:54:04Z HP:0040215 UMLS:C4073160 Abnormal insulin level human_phenotype HP:0040214 Abnormal circulating insulin concentration HP:0040214 HP:0040214 2016-01-12T16:54:04Z human_phenotype HP:0040215 obsolete Abnormal circulating insulin level true HP:0040215 A decreased concentration of insulin in the blood. 2016-01-12T16:54:04Z UMLS:C2748055 human_phenotype HP:0040216 Hypoinsulinemia HP:0040216 An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. 2016-01-12T17:02:43Z UMLS:C4073162 Elevated HbA1c Elevated glycated haemoglobin Elevated glycated hemoglobin Elevated glycosylated haemoglobin Elevated glycosylated hemoglobin Elevated haemoglobin A1c Increased HbA1c levels human_phenotype HP:0040217 Elevated hemoglobin A1c HP:0040217 An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. PMID:20042774 https://orcid.org/0000-0002-0736-9199 Elevated HbA1c Elevated glycated haemoglobin Elevated glycosylated haemoglobin Elevated haemoglobin A1c Increased HbA1c levels The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. 2016-01-12T17:10:16Z UMLS:C1855767 Reduced NK cell number Reduced natural killer cell number human_phenotype HP:0040218 Reduced total natural killer cell count HP:0040218 The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal. PMID:23993353 https://orcid.org/0000-0002-0736-9199 Reduced NK cell number Absence of detectable circulating NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. 2016-01-12T17:10:16Z UMLS:C4073163 Absent NK cells human_phenotype HP:0040219 Absent natural killer cells HP:0040219 Absence of detectable circulating NK cells, commonly characterized as CD3-CD19- and CD16+ or CD56+ lymphocytes, in the blood. Usually, less than 20 cells per microlitre is considered to be an absence. https://orcid.org/0000-0002-0736-9199 Absent NK cells 2016-01-14T12:13:08Z UMLS:C4280723 human_phenotype HP:0040220 Abnormal size of the dental root HP:0040220 2016-01-14T12:13:08Z UMLS:C4280722 human_phenotype HP:0040221 Hypoplasia of the dental root HP:0040221 An increased tendency towards thrombosis in the mother during a pregnancy. 2016-01-21T16:03:23Z UMLS:C4280721 human_phenotype HP:0040222 Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392). Maternal thrombophilia HP:0040222 An increased tendency towards thrombosis in the mother during a pregnancy. PMID:25401392 https://orcid.org/0000-0002-0736-9199 Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. 2016-01-21T16:10:00Z UMLS:C4280720 Intrapulmonary haemorrhage Intrapulmonary hemorrhage Pulmonary haemorrhage human_phenotype HP:0040223 Pulmonary hemorrhage HP:0040223 Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. PMID:16473816 Intrapulmonary haemorrhage Pulmonary haemorrhage Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) 2016-01-21T16:43:36Z UMLS:C4280719 Abnormality of the fibrinolytic system human_phenotype HP:0040224 requested and created by members of the BRIDGE consortium Abnormality of fibrinolysis HP:0040224 A decrease in high molecular weight von Willebrand factor multimers. 2016-01-21T16:47:53Z UMLS:C4280718 Decrease in HMW VWF multimers human_phenotype HP:0040225 Requested and created by members of the BRIDGE consortium. Decrease in high molecular weight von Willebrand factor Multimers HP:0040225 An abnormality of coagulation related to a decreased concentration of heparin co-factor II 2016-01-21T16:54:09Z UMLS:C4280717 Heparin co-factor II deficiency human_phenotype HP:0040226 Requested and created by members of the BRIDGE consortium Decreased level of heparin co-factor II HP:0040226 Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation 2016-01-21T16:54:09Z UMLS:C4280716 human_phenotype HP:0040227 Requested and created by members of the BRIDGE consortium Decreased level of histidine-rich glycoprotein HP:0040227 The concentration of plasminogen in the blood circulation is below the lower limit of normal. 2016-01-21T16:54:09Z UMLS:C4280715 Decreased circulating plasminogen concentration Decreased plasminogen concentration Decreased plasminogen level Decreased plasminogen level in blood Hypoplasminogenemia Reduced plasminogen concentration Reduced plasminogen level Reduced plasminogen level in blood human_phenotype HP:0040228 Requested and created by members of the BRIDGE consortium Decreased circulating plasminogen concentration HP:0040228 Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot 2016-01-21T16:54:09Z UMLS:C4255334 human_phenotype BDCA-3 HP:0040229 Requested and created by members of the BRIDGE consortium Decreased level of thrombomodulin HP:0040229 The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis 2016-01-21T17:03:48Z UMLS:C4280714 Decreased level of tPA human_phenotype HP:0040230 Requested and created by members of the BRIDGE consortium Decreased level of tissue plasminogen activator HP:0040230 2016-01-21T17:03:48Z UMLS:C4280713 human_phenotype HP:0040231 Abnormal onset of bleeding HP:0040231 Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. 2016-01-21T17:03:48Z UMLS:C4280712 human_phenotype HP:0040232 Delayed onset bleeding HP:0040232 Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. 2016-01-21T17:03:48Z UMLS:C2750514 Reduced factor XIII, subunit A human_phenotype HP:0040233 Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium Factor XIII subunit A deficiency HP:0040233 Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. 2016-01-21T17:03:48Z UMLS:C2750481 Reduced factor XIII, subunit B human_phenotype HP:0040234 Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium Factor XIII subunit B deficiency HP:0040234 The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. 2016-01-21T17:05:27Z UMLS:C4280711 Dohle-like leukocyte inclusion bodies Inclusion bodies in leukocytes human_phenotype HP:0040235 This term has been requested and created by members of the BRIDGE consortium Leukocyte inclusion bodies HP:0040235 Increased degradation of fibrin, associated with clot instability and bleeding 2016-01-21T17:06:57Z UMLS:C3805089 human_phenotype HP:0040236 This term has been requested and created by members of the BRIDGE consortium Hyperfibrinolysis HP:0040236 Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay. 2016-01-21T17:12:10Z UMLS:C4280710 von Willebrand Disease Type II Normandy human_phenotype HP:0040237 This term has been requested and created by members of the BRIDGE consortium Impaired binding of factor VIII to VWF HP:0040237 An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response 2016-01-21T17:14:42Z UMLS:C4280709 Neutrophil migratory defect human_phenotype HP:0040238 This term has been requested and created by members of the BRIDGE consortium Impaired neutrophil chemotaxis HP:0040238 Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1. 2016-01-21T17:16:20Z UMLS:C4280708 human_phenotype HP:0040239 This term has been requested and created by members of the BRIDGE consortium Increased plasma vitamin K epoxide after vitamin K supplementation HP:0040239 An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA. 2016-01-21T17:17:56Z UMLS:C4280707 human_phenotype HP:0040240 Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium Increased ratio of VWF propeptide to VWF antigen HP:0040240 Increased platelet agglutination in response to low-dose ristocetin 2016-01-21T17:19:41Z UMLS:C4280706 human_phenotype HP:0040241 Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium Increased RIPA HP:0040241 Bleeding occurring within a muscle 2016-01-21T17:22:43Z SNOMEDCT_US:95422003 UMLS:C0151702 Intramuscular haemorrhage Intramuscular hemorrhage Muscle haemorrhage human_phenotype HP:0040242 Muscle hemorrhage HP:0040242 Bleeding occurring within a muscle PMID:27231694 Intramuscular haemorrhage Muscle haemorrhage Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. 2016-01-21T17:24:26Z UMLS:C4280705 human_phenotype HP:0040243 This term has been requested and created by members of the BRIDGE consortium Prolonged euglobulin clot lysis time HP:0040243 Increased time to coagulation in the Russell's viper venom assay 2016-01-21T17:27:10Z UMLS:C4280704 human_phenotype HP:0040244 This term has been requested and created by members of the BRIDGE consortium Prolonged Russell's viper venom time HP:0040244 Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. 2016-01-21T17:27:10Z UMLS:C4280703 human_phenotype HP:0040245 This term has been requested and created by members of the BRIDGE consortium Reduced alpha-2-antiplasmin activity HP:0040245 Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. 2016-01-21T17:27:10Z UMLS:C4280702 human_phenotype HP:0040246 This term has been requested and created by members of the BRIDGE consortium Reduced antithrombin antigen HP:0040246 Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. 2016-01-21T17:29:51Z UMLS:C4280701 human_phenotype HP:0040247 This term has been requested and created by members of the BRIDGE consortium Reduced euglobulin clot lysis time HP:0040247 Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. 2016-01-21T17:29:51Z UMLS:C4280700 human_phenotype HP:0040248 This term has been requested and created by members of the BRIDGE consortium Reduced plasminogen activator inhibitor 1 activity HP:0040248 Reduced level of plasminogen activator inhibitor 1 antigen. 2016-01-21T17:29:51Z UMLS:C4280699 human_phenotype HP:0040249 Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium Reduced plasminogen activator inhibitor 1 antigen HP:0040249 Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. 2016-01-21T17:32:51Z UMLS:C4280698 human_phenotype HP:0040250 This term has been requested and created by members of the BRIDGE consortium Reduced prothrombin antigen HP:0040250 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. 2016-02-15T17:43:41Z UMLS:C4280697 Hand dimples human_phenotype HP:0040251 Use case: PMC4498842 Hand dimple HP:0040251 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand. https://orcid.org/0000-0002-5316-1399 Hand dimples 2016-03-03T09:29:34Z UMLS:C4280696 human_phenotype HP:0040252 Abnormal size of the clitoris HP:0040252 2016-03-03T09:29:34Z UMLS:C4280695 human_phenotype HP:0040253 Increased size of the clitoris HP:0040253 2016-03-03T09:29:34Z UMLS:C4280694 human_phenotype HP:0040254 Decreased size of the clitoris HP:0040254 2016-03-03T09:29:34Z UMLS:C4280693 human_phenotype HP:0040255 Aplasia/Hypoplasia of the clitoris HP:0040255 Absence or underdevelopment of the nasopharyngeal adenoids. 2016-03-15T13:12:40Z UMLS:C4280290 human_phenotype Adenoids small or absent HP:0040256 Aplastic/Hypoplastic nasopharyngeal adenoids HP:0040256 A deviation in the size of nasopharyngeal adenoids. 2016-03-15T13:12:40Z UMLS:C4280692 human_phenotype HP:0040257 Abnormal size of nasopharyngeal adenoids HP:0040257 A deviation in the size of nasopharyngeal adenoids. https://orcid.org/0000-0001-7941-2961 Underdevelopment of the nasopharyngeal adenoids. 2016-03-15T13:12:40Z UMLS:C4280691 Underdeveloped nasopharyngeal adenoids human_phenotype HP:0040258 Hypoplastic nasopharyngeal adenoids HP:0040258 Absence of the nasopharyngeal adenoids as a developmental defect. 2016-03-15T13:12:40Z UMLS:C4280690 human_phenotype HP:0040259 Aplastic nasopharyngeal adenoids HP:0040259 Absence of the nasopharyngeal adenoids as a developmental defect. https://orcid.org/0000-0001-5208-3432 An abnormal decrease in the size of nasopharyngeal adenoids. 2016-03-15T13:12:40Z UMLS:C4280689 human_phenotype HP:0040260 Decreased size of nasopharyngeal adenoids HP:0040260 An abnormal decrease in the size of nasopharyngeal adenoids. https://orcid.org/0000-0001-7941-2961 An abnormal increase in the size of nasopharyngeal adenoids. 2016-03-15T13:12:40Z SNOMEDCT_US:111591002 SNOMEDCT_US:276442006 UMLS:C0149825 UMLS:C0455938 human_phenotype Adenoid hypertrophy Adenoids large HP:0040261 Increased size of nasopharyngeal adenoids HP:0040261 Middle ear is filled with glue-like fluid instead of air. 2016-03-17T15:05:24Z SNOMEDCT_US:78868004 UMLS:C0029883 human_phenotype HP:0040262 In some contexts, glue ear is used interchangeably with otitis media with effusion (OME) (PMID:21653931). Some authors use glue ear to refer to a subtype of OME characterized by thick, glue-like fluid buildup in the middle ear (mucoid otitis media) (PMID:10993548). Serous otitis media is usually responsive to medical treatment, whereas mucoid otitis media is not. This term refers to the mucoid subtype. Glue ear HP:0040262 Middle ear is filled with glue-like fluid instead of air. PMID:10993548 PMID:11802055 PMID:21653931 HP:0012478 2016-03-17T15:11:36Z human_phenotype HP:0040263 obsolete Jaw ankylosis true HP:0040263 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. 2016-03-17T15:17:37Z SNOMEDCT_US:274667000 UMLS:C0236000 Jaw pain human_phenotype HP:0040264 Jaw pain HP:0040264 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. https://orcid.org/0000-0002-0736-9199 Jaw pain Abnormal increase in muscle size and mass of one or both arms not due to training. 2016-03-17T15:53:03Z UMLS:C4280687 human_phenotype HP:0040265 Upper limb muscle hypertrophy HP:0040265 2016-03-17T15:53:03Z UMLS:C4280686 human_phenotype HP:0040266 Proximal upper limb muscle hypertrophy HP:0040266 2016-03-17T15:53:03Z UMLS:C4280685 human_phenotype HP:0040267 Distal upper limb muscle hypertrophy HP:0040267 HP:0000403 2016-03-17T16:17:23Z human_phenotype HP:0040268 obsolete Recurrent infections of the middle ear true HP:0040268 2016-03-17T16:17:23Z SNOMEDCT_US:48145001 UMLS:C0149508 Obstruction of Eustachian tube human_phenotype HP:0040269 Blocked Eustachian tube HP:0040269 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. 2016-03-21T10:47:10Z MP:0005291 UMLS:C0151671 Decreased glucose tolerance Glucose tolerance decreased human_phenotype HP:0040270 Impaired glucose tolerance HP:0040270 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. https://orcid.org/0000-0002-0736-9199 A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. 2016-03-24T16:42:29Z UMLS:C4280684 human_phenotype HP:0040272 Seen in a wide-ranging variety of spinal cord processes including; simple MR artifacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. Hyperintensity of MRI T2 signal of the spinal cord HP:0040272 A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. https://orcid.org/0000-0002-0736-9199 Seen in a wide-ranging variety of spinal cord processes including; simple MR artifacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis. PMID:19527360 A malignant epithelial tumor with a glandular organization that originates in the intestines. 2016-03-31T12:08:18Z NCIT:C2852 UMLS:C4280683 human_phenotype HP:0040273 Adenocarcinoma of the intestines HP:0040273 A malignant epithelial tumor with a glandular organization that originates in the small intestine. 2016-03-31T12:08:18Z NCIT:C2852 SNOMEDCT_US:424440001 UMLS:C0278803 human_phenotype HP:0040274 Adenocarcinoma of the small intestine HP:0040274 A malignant epithelial tumor with a glandular organization that originates in the large intestine. 2016-03-31T12:08:18Z NCIT:C2852 SNOMEDCT_US:408645001 UMLS:C1319315 human_phenotype HP:0040275 Adenocarcinoma of the large intestine HP:0040275 2016-03-31T12:08:18Z NCIT:C2852 UMLS:C0338106 human_phenotype HP:0040276 Adenocarcinoma of the colon HP:0040276 2016-10-17T10:36:30Z NCIT:C3262 human_phenotype HP:0040277 Neoplasm of the pituitary gland HP:0040277 HP:0006767 2016-10-17T10:36:30Z human_phenotype HP:0040278 obsolete Prolactinoma true HP:0040278 Class to represent frequency of phenotypic abnormalities within a patient cohort. 2016-12-01T11:44:56Z human_phenotype HP:0040279 Aligned with Orphanet Frequency HP:0040279 Always present, i.e. in 100% of the cases. 2016-12-01T11:44:56Z ORPHA:453310 Obligate (100%) human_phenotype HP:0040280 Obligate HP:0040280 Present in 80% to 99% of the cases. 2016-12-01T11:44:56Z ORPHA:453311 Very frequent (99-80%) human_phenotype HP:0040281 Very frequent HP:0040281 Present in 30% to 79% of the cases. 2016-12-01T11:44:56Z ORPHA:453312 Frequent (79-30%) human_phenotype HP:0040282 Frequent HP:0040282 Present in 5% to 29% of the cases. 2016-12-01T11:44:56Z ORPHA:453313 Occasional (29-5%) human_phenotype HP:0040283 Occasional HP:0040283 Present in 1% to 4% of the cases. 2016-12-01T11:44:56Z ORPHA:453314 Very rare (&lt;4-1%) Very rare (<4-1%) human_phenotype HP:0040284 Very rare HP:0040284 Present in 0% of the cases. 2016-12-01T11:44:56Z ORPHA:453315 Excluded (0%) human_phenotype HP:0040285 Excluded HP:0040285 A structural anomaly of the axial musculature, comprising muscles of the head and neck, muscles of the vertebral column, muscles of the thoracic wall, muscles of the abdominal wall, and muscles of the pelvic floor. 2017-03-10T14:04:28Z Abnormality of axial muscles human_phenotype HP:0040286 Abnormal axial muscle morphology HP:0040286 2017-03-10T14:04:28Z human_phenotype HP:0040287 Axial muscle atrophy HP:0040287 The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. 2017-03-10T14:54:14Z human_phenotype HP:0040288 Nasogastric tube feeding HP:0040288 The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. PMID:25874832 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which occurs cyclically and then recovers without intervention. 2017-03-10T14:54:14Z CyN Cyclic neutropenia human_phenotype HP:0040289 Cyclically decreased total neutrophil count HP:0040289 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which occurs cyclically and then recovers without intervention. https://rarediseases.info.nih.gov/diseases/6229/cyclic-neutropenia CyN HP:0003011 2017-03-10T14:54:14Z human_phenotype HP:0040290 obsolete Abnormality of skeletal muscles true HP:0040290 2017-03-10T14:54:14Z Steatosis of skeletal muscle Steatosis of skeletal muscles human_phenotype HP:0040291 Skeletal muscle steatosis HP:0040291 2017-03-14T11:44:59Z Hemiplegia (left) human_phenotype HP:0040292 Left hemiplegia HP:0040292 2017-03-14T11:44:59Z Hemiplegia (right) human_phenotype HP:0040293 Right hemiplegia HP:0040293 2017-03-24T09:21:03Z Duplication of tongue Tongue duplicated Tongue duplication human_phenotype HP:0040294 Duplicated tongue HP:0040294 2017-03-24T09:28:49Z Double upper lip human_phenotype HP:0040295 Duplication of the upper lip HP:0040295 Anomalous anatomical placement of the eyebrow. 2017-03-24T09:34:19Z Abnormal location of eyebrows Abnormally placed eyebrows human_phenotype HP:0040296 Abnormal location of the eyebrow HP:0040296 Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. 2017-03-24T09:34:19Z human_phenotype HP:0040297 Preauricular cyst HP:0040297 Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix. PMID:24427573 2017-03-24T09:38:06Z Hyperplastic endometrium human_phenotype HP:0040298 Hyperplasia of the endometrium HP:0040298 2017-03-24T09:43:56Z Low fatty acids level human_phenotype HP:0040299 Decreased circulating free fatty acid level HP:0040299 Any deviation from the normal concentration of a free fatty acid in the blood circulation. 2017-03-24T09:43:56Z Abnormal circulating free fatty acid level human_phenotype HP:0040300 Abnormal circulating free fatty acid concentration HP:0040300 An increased concentration of glycerol in the urine. 2017-03-24T09:47:11Z human_phenotype HP:0040301 Increased urinary glycerol HP:0040301 The concentration of glycerol in the blood circulation is above the upper limit of normal. 2017-03-24T09:51:03Z Hyperglycerolemia human_phenotype Pseudohypertriglyceridemia HP:0040302 In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia. Elevated circulating glycerol concentration HP:0040302 The concentration of glycerol in the blood circulation is above the upper limit of normal. PMID:23415440 The concentration of iron cation in the blood circulation is below the lower limit of normal. 2017-03-24T09:57:16Z Decreased circulating iron concentration Decreased iron cation concentration Decreased iron cation level Decreased iron cation level in blood Decreased serum iron Hypoferremia Low serum iron Reduced iron cation concentration Reduced iron cation level Reduced iron cation level in blood human_phenotype HP:0040303 Decreased circulating iron concentration HP:0040303 The concentration of iron cation in the blood circulation is below the lower limit of normal. PMID:36197985 PMID:36816471 2017-03-24T09:59:30Z Duplicate sella turcica Duplicated sella turcica human_phenotype HP:0040304 Duplication of the sella turcica HP:0040304 Increased desire for sexual activity on the part of a male. 2017-03-24T10:08:20Z human_phenotype HP:0040305 Increased male libido HP:0040305 Reduced desire for sexual activity on the part of a male. 2017-03-24T10:08:20Z human_phenotype HP:0040306 Decreased male libido HP:0040306 A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity 2017-03-24T10:08:20Z human_phenotype HP:0040307 Male sexual dysfunction HP:0040307 A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity PMID:29532805 Inability of a male to reach orgasm. 2017-03-24T10:08:20Z human_phenotype HP:0040308 Male anorgasmia HP:0040308 2017-03-24T10:15:55Z Large jaw human_phenotype HP:0040309 Increased size of the mandible HP:0040309 An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. 2017-03-24T10:28:11Z human_phenotype HP:0040310 This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis. Sterile arthritis HP:0040310 Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. 2017-03-24T10:28:11Z human_phenotype HP:0040311 In the event that pain is the only symptom, it is difficult to differentiate polyarthritis from the causes of polyarticular joint pain, such as fibromyalgia or osteoarthritis. Symmetric polyarthritis HP:0040311 Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion. PMID:31657698 2017-03-24T10:28:11Z Arthritis of temporomandibular joint human_phenotype HP:0040312 Temporomandibular arthritis HP:0040312 Arthritis of temporomandibular joint https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 A type of arthritis that affects up to four joints in the first six months of disease. 2017-03-24T10:28:52Z human_phenotype HP:0040313 Oligoarthritis HP:0040313 A type of arthritis that affects up to four joints in the first six months of disease. PMID:14760812 The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. 2017-03-24T10:41:09Z Blind-ended vagina human_phenotype HP:0040314 Blind vagina HP:0040314 The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. PMID:23730041 PMID:29768628 https://orcid.org/0000-0002-5316-1399 An abnormal accumulation of fluid and swelling in the tongue. 2017-03-24T11:07:17Z Tongue oedema human_phenotype HP:0040315 Tongue edema HP:0040315 Tongue oedema HP:0030261 2017-03-27T11:11:37Z human_phenotype HP:0040316 obsolete Aplasia of the penis true HP:0040316 An abnormal blue color of the urine. 2017-03-27T11:23:19Z human_phenotype HP:0040317 Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria. Blue urine HP:0040317 An abnormal red color of the urine. 2017-03-27T11:23:19Z human_phenotype HP:0040318 http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean Red urine HP:0040318 An abnormal dark color of the urine. 2017-03-27T11:23:19Z human_phenotype HP:0040319 http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean Dark urine HP:0040319 An abnormal red-brown color of the urine. 2017-03-27T11:23:19Z red brown urine human_phenotype HP:0040320 http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean Red-brown urine HP:0040320 An abnormal dark-yellow color of the urine. 2017-03-27T11:23:19Z human_phenotype HP:0040321 http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean Dark yellow urine HP:0040321 An abnormal purple color of the urine. 2017-03-27T11:23:19Z human_phenotype HP:0040322 http://www.health.harvard.edu/newsletter_article/red-brown-green-urine-colors-and-what-they-might-mean Purple urine HP:0040322 Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin. 2017-03-27T12:42:34Z Erythema of eyelid Erythema of the eyelids Eyelid erythema Red eyelid human_phenotype HP:0040323 Eyelid erythema HP:0040323 Erythema of the eyelids Red eyelid In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower. 2017-03-27T14:03:27Z Heliotrope erythema human_phenotype HP:0040324 Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis. Heliotrope rash HP:0040324 A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings. 2017-03-27T14:03:27Z human_phenotype HP:0040325 Bull's eye rash HP:0040325 Underdevelopment of the olfactory bulb. 2017-03-28T09:59:31Z Hypoplasia of olfactory bulb Hypoplastic olfactory bulb human_phenotype HP:0040326 Hypoplasia of the olfactory bulb HP:0040326 Underdevelopment of the olfactory bulb. https://orcid.org/0000-0002-5316-1399 An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. 2017-03-28T09:59:31Z human_phenotype HP:0040327 Abnormal morphology of the olfactory bulb HP:0040327 An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. https://orcid.org/0000-0002-5316-1399 An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. 2017-12-18T11:24:21Z human_phenotype HP:0040328 Focal hyperintensity of cerebral white matter on MRI HP:0040328 An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. 2017-12-18T11:24:21Z human_phenotype HP:0040329 Multifocal hyperintensity of cerebral white matter on MRI HP:0040329 Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. 2017-12-18T11:24:21Z human_phenotype HP:0040330 Confluent hyperintensity of cerebral white matter on MRI HP:0040330 Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. PMID:25636970 2017-12-18T11:24:21Z human_phenotype HP:0040331 Focal hypointensity of cerebral white matter on MRI HP:0040331 2017-12-18T11:24:21Z human_phenotype HP:0040332 Multifocal hypointensity of cerebral white matter on MRI HP:0040332 2017-12-18T11:24:21Z human_phenotype HP:0040333 Confluent hypointensity of cerebral white matter on MRI HP:0040333 Chronic rhinitis accompanied by pus formation. 2018-10-05T13:22:23Z human_phenotype HP:0040334 An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles) Purulent rhinitis HP:0040334 Applies to a sign or symptom that is distributed around the nipples or located in the nipples. 2024-01-02T10:21:47Z human_phenotype HP:0040402 Nipple localization HP:0040402 The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm. 2024-01-02T10:23:57Z Microcalcifications of the breast human_phenotype HP:0040403 Breast microcalcification HP:0040403 Microcalcifications of the breast Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma. 2024-01-02T10:27:01Z human_phenotype HP:0040404 Architectural distortion of breast HP:0040404 Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma. PMID:32953609 Thickening of the skin around the nipple with a distribution that is not equal on all sides. 2024-01-02T13:14:01Z human_phenotype HP:0040405 Asymmetric thickening of the nipple-areolar complex HP:0040405 Perimenopause, or the menopausal transition, encompasses that period of time during which physiologic changes mark progression toward a woman's final menstrual period. This phase begins with the onset of menstrual irregularities and continues until a woman reaches menopause, or one year after amenorrhea has occurred. Perimenopause can last for a variable amount of time, the median of which is four years. 2024-01-02T13:17:13Z human_phenotype HP:0040406 Perimenopausal HP:0040406 Perimenopause, or the menopausal transition, encompasses that period of time during which physiologic changes mark progression toward a woman's final menstrual period. This phase begins with the onset of menstrual irregularities and continues until a woman reaches menopause, or one year after amenorrhea has occurred. Perimenopause can last for a variable amount of time, the median of which is four years. PMID:29952797 Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection. 2024-01-02T13:21:07Z human_phenotype HP:0040407 Mastitis HP:0040407 Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection. PMID:31791447 Applies to a sign or symptom that is improved or made more bearable by menopause. 2024-01-02T13:51:38Z human_phenotype HP:0040408 This term may apply to breast fibroadenoma and premenstrual dysphoric disorder. Ameliorated by menopause HP:0040408 Yielding to alternate pressure by palpating fingers so as to suggest that the area being felt contains fluid. 2024-01-02T13:53:33Z human_phenotype HP:0040409 Fluctuance on palpation HP:0040409 A medical history of having undergone a vasectomy prior to the current presentation. 2024-01-02T13:55:06Z human_phenotype HP:0040410 History of vasectomy HP:0040410 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the penis. 2024-01-02T13:56:35Z Penile pain human_phenotype HP:0040411 Pain in penis HP:0040411 A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies. 2024-01-02T14:01:03Z human_phenotype HP:0040412 Left ventricular thrombus HP:0040412 A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies. PMID:33850917 2024-01-02T14:03:17Z human_phenotype HP:0040413 Atrophic vaginal mucosa HP:0040413 A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction. 2024-01-02T20:26:39Z human_phenotype HP:0040414 See figures 2 and 3 of PMID:28868432. Gelatinous ascites HP:0040414 A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction. PMID:28868432 Breast tissue with a lumpy or ropelike texture. 2024-01-02T20:29:31Z human_phenotype HP:0040415 Diffuse breast nodularity HP:0040415 The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits. 2024-01-04T05:31:48Z human_phenotype HP:0040416 Abnormal urinary nitrogen compound level HP:0040416 The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T05:33:01Z human_phenotype HP:0040417 Decreased urinary biopterin level HP:0040417 The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits. 2024-01-04T05:58:02Z human_phenotype HP:0040418 Abnormal urine guanidinoacetic acid level HP:0040418 The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T05:58:49Z human_phenotype HP:0040419 Elevated urine guanidinoacetic acid level HP:0040419 The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T06:00:52Z human_phenotype HP:0040420 Decreased urinary neopterin level HP:0040420 The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal. 2024-01-04T06:53:24Z human_phenotype HP:0040421 Abnormal urinary inosine level HP:0040421 The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T06:54:26Z human_phenotype HP:0040422 Elevated urinary inosine level HP:0040422 The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal. 2024-01-04T07:13:58Z human_phenotype HP:0040423 Abnormal urinary guanosine level HP:0040423 The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:14:41Z human_phenotype HP:0040424 Elevated urinary guanosine level HP:0040424 The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits. 2024-01-04T07:26:36Z human_phenotype HP:0040425 Abnormal urinary hypoxanthine level HP:0040425 The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T07:26:46Z human_phenotype HP:0040426 Decreased urinary hypoxanthine level HP:0040426 The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. 2019-07-09T15:12:49Z human_phenotype HP:0041042 Absent neutrophil lactoferrin HP:0041042 The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. PMID:6155073 An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. 2019-07-09T15:19:53Z human_phenotype HP:0041043 Neutrophil nuclear clefts HP:0041043 An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. PMID:3460353 An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. 2019-07-09T15:19:53Z human_phenotype HP:0041044 Low neutrophil alkaline phosphatase HP:0041044 An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. PMID:46759 An increased number of mitochondria detected in neutrophils. 2019-07-09T15:28:51Z human_phenotype HP:0041045 Increased neutrophil mitochondria HP:0041045 An increased number of mitochondria detected in neutrophils. PMID:6155073 An increased number of ribosomes detected in neutrophils. 2019-07-09T15:28:51Z human_phenotype HP:0041046 Increased neutrophil ribosomes HP:0041046 An increased number of ribosomes detected in neutrophils. PMID:6155073 A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). 2019-08-27T14:13:29Z Obstruction of bladder outlet human_phenotype HP:0041047 Bladder outlet obstruction HP:0041047 A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS). PMID:16986027 A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. 2019-08-28T10:01:40Z human_phenotype HP:0041048 Decreased expression of GPI-anchored proteins on the cell surface HP:0041048 A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. PMID:26293662 An inability to digest starch. 2019-11-01T12:01:28Z Amylose-amylopectin intolerance Starch intolerance human_phenotype HP:0041049 Starch intolerance HP:0041049 An inability to digest starch. https://orcid.org/0000-0002-6601-2165 Starch intolerance Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. 2020-01-15T12:44:20Z Renal tubule cyst human_phenotype HP:0041050 Renal tubular cyst HP:0041050 Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells. https://orcid.org/0000-0002-0736-9199 A rare condition that is characterized by a complete loss of taste function of the tongue. 2020-04-06T15:37:13Z Absent sense of taste Impaired taste sensation Lost taste human_phenotype HP:0041051 Ageusia HP:0041051 A rare condition that is characterized by a complete loss of taste function of the tongue. https://www.ncbi.nlm.nih.gov/books/NBK549775/ Lost taste A developmental defect characterized by the absence of the putamen owing to its failure to develop. 2020-07-09T13:43:13Z human_phenotype HP:0041052 The basal ganglia are symmetrical subcortical gray nuclei at the core of the extrapyramidal system, composed by the striatum (which comprises the putamen, caudate nucleus, olfactory tubercle, and nucleus accumbens), the pallidum, the substantia nigra, and the subthalamic nucleus. Congenital malformations of the basal ganglia deriving from defects of embryogenesis are very rare. The basal ganglia embryologically derive from the prosencephalon (or forebrain), the most rostral of the three vesicles originating from early patterning of the neural tube along the anterior-posterior axis. Agenesis of putamen HP:0041052 A developmental defect characterized by the absence of the putamen owing to its failure to develop. PMID:31412107 HP:0041082 2020-07-23T23:35:47Z human_phenotype HP:0041053 obsolete Fractured head true HP:0041053 2020-07-23T23:35:47Z HP:0020110 human_phenotype HP:0041054 obsolete Fractured thoracic segment of trunk true HP:0041054 A partial or complete breakage of the humerus. 2020-07-23T23:35:47Z Broken humerus Fracture of the humerus Humeral fracture Humerus fracture bone humerus human_phenotype HP:0041055 Fractured humerus HP:0041055 A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). 2020-07-09T13:46:23Z human_phenotype HP:0041056 It is commonly associated with atrophy of the pons, cerebellum, and putamen in multiple system atrophy (MSA). See figure 15 in PMID:29089832. Hot cross bun sign HP:0041056 A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI). PMID:25886304 PMID:29089832 A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation. 2020-07-09T14:43:27Z Transient decreased IgG4 in blood human_phenotype HP:0041057 Transient decreased circulating IgG4 concentration HP:0041057 A lasting decrease of immunoglobulin G4 (IgG4) in the blood. 2020-07-09T14:43:27Z HP:0041060 Chronic decreased IgG4 in blood human_phenotype HP:0041058 Chronic decreased circulating IgG4 concentration HP:0041058 A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. 2020-07-09T14:43:27Z Chronic (near) absent IgG4 in blood human_phenotype HP:0041059 Chronic absent circulating IgG4 HP:0041059 HP:0041058 2020-07-09T14:43:27Z human_phenotype HP:0041060 obsolete Chronic partially decreased circulating IgG4 true HP:0041060 A partial or complete breakage of the calcaneus. 2020-07-23T23:35:47Z bone calcaneus human_phenotype HP:0041061 Fractured calcaneus HP:0041061 A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation. 2020-07-09T14:43:27Z Transient decreased IgG2 in blood human_phenotype HP:0041062 Transient decreased circulating IgG2 concentration HP:0041062 A lasting decrease of immunoglobulin G2 (IgG2) in the blood. 2020-07-09T14:43:27Z HP:0041066 Chronic decreased IgG2 in blood human_phenotype HP:0041063 Chronic decreased circulating IgG2 concentration HP:0041063 HP:0034669 2020-07-23T23:35:47Z human_phenotype HP:0041064 obsolete Fractured knee true HP:0041064 A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured. 2020-07-09T14:43:27Z Chronic (near) absent IgG2 in blood human_phenotype HP:0041065 Chronic absent circulating IgG2 HP:0041065 HP:0041063 2020-07-09T14:43:27Z human_phenotype HP:0041066 obsolete Chronic partially decreased circulating IgG2 true HP:0041066 A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation. 2020-07-09T14:43:27Z Transient decreased IgG1 in blood human_phenotype HP:0041067 Transient decreased circulating IgG1 concentration HP:0041067 A lasting decrease of immunoglobulin G1 (IgG1) in the blood. 2020-07-09T14:43:27Z HP:0041070 Chronic decreased IgG1 in blood human_phenotype HP:0041068 Chronic decreased circulating IgG1 concentration HP:0041068 A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured. 2020-07-09T14:43:27Z Chronic (near) absent IgG1 in blood human_phenotype HP:0041069 Chronic absent circulating IgG1 HP:0041069 HP:0041068 2020-07-09T14:43:27Z human_phenotype HP:0041070 obsolete Chronic partially decreased circulating IgG1 true HP:0041070 A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation. 2020-07-09T14:43:27Z Transient decreased IgG3 in blood human_phenotype HP:0041071 Transient decreased circulating IgG3 concentration HP:0041071 A lasting decrease of immunoglobulin G3 (IgG3) in the blood. 2020-07-09T14:43:27Z HP:0041075 Chronic decreased IgG3 in blood human_phenotype HP:0041072 Chronic decreased circulating IgG3 concentration HP:0041072 A partial or complete breakage of the thoracic vertebra. 2020-07-23T23:35:47Z bone thoracic vertebra human_phenotype HP:0041073 Fractured thoracic vertebra HP:0041073 A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured. 2020-07-09T14:43:27Z Chronic (near) absent IgG3 in blood human_phenotype HP:0041074 Chronic absent circulating IgG3 HP:0041074 HP:0041072 2020-07-09T14:43:27Z human_phenotype HP:0041075 obsolete Chronic partially decreased circulating IgG3 true HP:0041075 An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous. 2020-07-09T15:14:34Z human_phenotype HP:0041076 Abnormal immunoglobulin level in body fluid HP:0041076 An elevation from normal levels of immunoglobulins in body fluids, such as mucous. 2020-07-09T15:14:34Z human_phenotype HP:0041077 Increased immunoglobulin level in body fluid HP:0041077 An reduction from normal levels of immunoglobulins in body fluids, such as mucous. 2020-07-09T15:14:34Z human_phenotype HP:0041078 Decreased immunoglobulin level in body fluid HP:0041078 The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. 2020-07-09T15:25:26Z Decreased adipose tissue percentage human_phenotype HP:0041079 Decreased body fat percentage HP:0041079 The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males. http://pennshape.upenn.edu/ https://orcid.org/0000-0002-9553-7227 A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. 2020-07-23T23:35:47Z human_phenotype HP:0041080 T cell exhaustion is a broad term that has been used to describe the response of T cells to chronic antigen stimulation, first in the setting of chronic viral infection but more recently in response to tumors. Abnormal exhausted T cell proportion HP:0041080 A deviation from the normal proportion of exhausted T cell relative to T cell in the blood. PMID:31570879 Bone fracture anywhere in the tibia, fibula, or ankle. 2020-07-28T15:54:07Z Fracture of the lower leg Lower extremity fracture Lower limb fracture human_phenotype HP:0041081 Fractured lower leg HP:0041081 Bone fracture anywhere in the tibia, fibula, or ankle. PMID:20109361 A partial or complete breakage of the skull. 2020-07-23T23:35:47Z HP:0041053 human_phenotype HP:0041082 Fractured skull HP:0041082 A partial or complete breakage of the phalanx. 2020-07-23T23:35:47Z bone phalanx human_phenotype HP:0041083 Fractured phalanx HP:0041083 A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. 2020-07-28T16:09:48Z Compression fractured thoracic vertebra Wedge fractured thoracic vertebra human_phenotype HP:0041084 Compression-fractured thoracic vertebra HP:0041084 A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. 2020-07-28T16:09:48Z Compression fractured vertebra Wedge fractured vertebra human_phenotype HP:0041085 Compression-fractured vertebra HP:0041085 A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. 2020-07-28T16:09:48Z Compression fractured cervical vertebra Wedge fractured cervical vertebra human_phenotype HP:0041086 Compression-fractured cervical vertebra HP:0041086 A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging. 2020-07-28T16:11:39Z Compression fractured lumbar vertebra Wedge fractured lumbar vertebra human_phenotype HP:0041087 Compression-fractured lumbar vertebra HP:0041087 A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma. 2020-07-28T16:21:41Z human_phenotype HP:0041088 Avulsion fractured humerus HP:0041088 A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma. 2020-07-28T16:21:41Z human_phenotype HP:0041089 Avulsion fractured tibia HP:0041089 An avulsion fracture (i.e., a type of fracture in which a piece of bone tears away from the site where the muscle attaches to the bone) of a bone of the pelvis. 2020-07-28T16:21:41Z Avulsion fractured pelvic region of trunk human_phenotype HP:0041090 Pelvic avulsion injuries can occur in both adolescents and adults when either the apophysis is not yet completely fused or the enthesis, i. e. the site of attachment of a tendon or ligament, cannot withstand the tractional force encountered. Anatomically, the enthesis refers to the site of insertion of a tendon or ligament and the adjacent tissues which are functionally related. Pelvic avulsion fracture HP:0041090 An avulsion fracture (i.e., a type of fracture in which a piece of bone tears away from the site where the muscle attaches to the bone) of a bone of the pelvis. PMID:32106326 A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma. 2020-07-28T16:21:41Z human_phenotype HP:0041091 Avulsion fractured epiphysis of femur HP:0041091 Heightened emotional reactivity or response to environmental stimuli, including the emotions of others that include behaviors or expressive outbursts that are beyond the accepted cultural range and norms. 2020-07-31T11:31:21Z Emotional reactivity Highly sensitive Hypersensitivity Overly sensitive human_phenotype HP:0041092 Emotional hypersensitivity HP:0041092 A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. 2021-05-12T14:19:58Z Beau lines Ladder nail Ladder nail sign human_phenotype HP:0041093 Beau's lines HP:0041093 A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease. ISBN:0-07-138076-0 PMID:26475537 PMID:29593008 PMID:32900765 Continuous or nearly continuous configuration of the cartilaginous tracheal ring. 2021-09-30T16:02:28Z CTRD Complete tracheal ring deformity Complete tracheal rings human_phenotype HP:0041094 The trachea is surrounded by 16-20 rings of hyaline cartilage; these rings are incomplete and horseshoe-shaped (C-shaped). In complete tracheal rings, the rings encircle the entire trachea (O-shaped) or nearly the entire trachea. Pulmonary artery sling is a vascular anomaly often seen in CTRD in which the left pulmonary artery (LPA) originates from the right pulmonary artery (RPA) and encircles the distal trachea and right primary bronchus before entering the hilum of the left lung. Pumonary artery sling should be coded separately (HP:0004961). Complete tracheal ring HP:0041094 Continuous or nearly continuous configuration of the cartilaginous tracheal ring. PMID:31215789 CTRD Complete tracheal rings Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity. 2022-03-25T15:30:05Z human_phenotype HP:0041095 Arterial blood flow pulsatility, as assessed by Doppler, is influenced by many factors, including the differences in resistance between vascular beds upstream and downstream of the artery assessed, intrinsic properties of the artery, fetal heart rate and cardiac output. In the presence of structural heart disease, reduced cerebral oxygen content, abnormal cardiac output, anatomical substrate that impedes cerebral blood flow and differences in systemic and placental vascular resistance may all potentially contribute to changes in middle cerebral artery pulsatility index (MCA-PI). Fetuses with severe left heart obstruction, including hypoplastic left heart syndrome and isolated coarctation associated with retrograde distal arch flow, have altered cerebral blood flow with reduced MCA-PI. These changes in cerebral blood flow potentially contribute to the neurodevelopmental abnormalities frequently observed in affected infants and children. Decreased middle cerebral artery pulsatility index HP:0041095 Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity. PMID:23456797 A partial or complete breakage of the metaphysis of femur. 2020-07-23T23:35:47Z bone metaphysis of femur human_phenotype HP:0041114 Fractured metaphysis of femur HP:0041114 A partial or complete breakage of the right clavicle. 2020-07-23T23:35:47Z bone right clavicle human_phenotype HP:0041115 Fractured right clavicle HP:0041115 A partial or complete breakage of the left clavicle. 2020-07-23T23:35:47Z bone left clavicle human_phenotype HP:0041116 Fractured left clavicle HP:0041116 A partial or complete breakage of the lower limb segment. 2020-07-23T23:35:47Z bone lower limb segment human_phenotype HP:0041117 Fractured lower limb segment HP:0041117 A partial or complete breakage of the upper limb segment. 2020-07-23T23:35:47Z bone upper limb segment human_phenotype HP:0041118 Fractured upper limb segment HP:0041118 A partial or complete breakage of the metacarpus skeleton. 2020-07-23T23:35:47Z bone metacarpus skeleton human_phenotype HP:0041119 Fractured metacarpus skeleton HP:0041119 A partial or complete breakage of the epiphysis of fifth metacarpal bone. 2020-07-23T23:35:47Z bone epiphysis of fifth metacarpal bone human_phenotype HP:0041121 Fractured epiphysis of fifth metacarpal bone HP:0041121 A partial or complete breakage of the tibia. 2020-07-23T23:35:47Z Broken tibia Fracture of the tibia Tibial fracture bone tibia human_phenotype HP:0041143 Fractured tibia HP:0041143 A partial or complete breakage of the clavicle bone. 2020-07-23T23:35:47Z bone clavicle bone human_phenotype HP:0041144 Fractured clavicle bone HP:0041144 A partial or complete breakage of the acetabular part of hip bone. 2020-07-23T23:35:47Z bone acetabular part of hip bone human_phenotype HP:0041145 Fractured acetabular part of hip bone HP:0041145 A partial or complete breakage of the coccyx. 2020-07-23T23:35:47Z bone coccyx human_phenotype HP:0041146 Fractured coccyx HP:0041146 A partial or complete breakage of the epiphysis. 2020-07-23T23:35:47Z bone epiphysis human_phenotype HP:0041147 Fractured epiphysis HP:0041147 A partial or complete breakage of the navicular bone of pes. 2020-07-23T23:35:47Z bone navicular bone of pes human_phenotype HP:0041149 Fractured navicular bone of pes HP:0041149 A partial or complete breakage of the cuboid bone. 2020-07-23T23:35:47Z bone cuboid bone human_phenotype HP:0041150 Fractured cuboid bone HP:0041150 A partial or complete breakage of the sternoclavicular joint. 2020-07-23T23:35:47Z bone sternoclavicular joint human_phenotype HP:0041152 Fractured sternoclavicular joint HP:0041152 A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot). 2020-07-23T23:35:47Z Ankle fracture human_phenotype HP:0041153 Fractured ankle HP:0041153 A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot). https://www.hss.edu/condition-list_ankle-fractures.asp HP:0041219 2020-07-23T23:35:47Z human_phenotype HP:0041154 obsolete Fractured elbow joint true HP:0041154 A partial or complete breakage of the mandible. 2020-07-23T23:35:47Z bone mandible human_phenotype HP:0041155 Fractured mandible HP:0041155 A partial or complete breakage of the orbit of skull. 2020-07-23T23:35:47Z bone orbit of skull human_phenotype HP:0041156 Fractured orbit of skull HP:0041156 A partial or complete breakage of the larynx. 2020-07-23T23:35:47Z bone larynx human_phenotype HP:0041157 Fractured larynx HP:0041157 2020-07-23T23:35:47Z HP:0020110 human_phenotype HP:0041158 obsolete Fractured trunk true HP:0041158 A partial or complete breakage of the rib. 2020-07-23T23:35:47Z bone rib human_phenotype HP:0041159 Fractured rib HP:0041159 A break in one or more bones of the pelvis. 2020-07-23T23:35:47Z HP:0020110 Fractured pelvic region of trunk Pelvic fracture human_phenotype HP:0041161 Pelvic fractures may be caused by damage to the pelvic ring's components, including the hip bones, sacrum, and coccyx. Pelvic fractures often result from high-impact trauma and are frequently accompanied by additional injuries elsewhere in the body. Pelvis fracture HP:0041161 A break in one or more bones of the pelvis. PMID:28613485 A partial or complete breakage of a metatarsal bone. 2020-07-23T23:35:47Z Broken metatarsal Broken metatarsal bone Metatarsal fracture human_phenotype HP:0041162 Metatarsal fracture HP:0041162 A partial or complete breakage of a metatarsal bone. PMID:30847497 A partial or complete breakage of the manual digit. 2020-07-23T23:35:47Z bone manual digit human_phenotype HP:0041163 Fractured manual digit HP:0041163 A partial or complete breakage of the talus. 2020-07-23T23:35:47Z bone talus human_phenotype HP:0041164 Fractured talus HP:0041164 A partial or complete breakage of the maxilla. 2020-07-23T23:35:47Z bone maxilla human_phenotype HP:0041165 Fractured maxilla HP:0041165 A partial or complete breakage of the vertebra. 2020-07-23T23:35:47Z bone vertebra human_phenotype HP:0041166 Fractured vertebra HP:0041166 A partial or complete breakage of the cervical vertebra. 2020-07-23T23:35:47Z bone cervical vertebra human_phenotype HP:0041167 Fractured cervical vertebra HP:0041167 A partial or complete breakage of the lumbar vertebra. 2020-07-23T23:35:47Z bone lumbar vertebra human_phenotype HP:0041168 Fractured lumbar vertebra HP:0041168 A partial or complete breakage of the fused sacrum. 2020-07-23T23:35:47Z bone fused sacrum human_phenotype HP:0041172 Fractured fused sacrum HP:0041172 A partial or complete breakage of the metacarpophalangeal joint. 2020-07-23T23:35:47Z bone metacarpophalangeal joint human_phenotype HP:0041173 Fractured metacarpophalangeal joint HP:0041173 A partial or complete breakage of the distal phalanx of manus. 2020-07-23T23:35:47Z Fractured distal phalanx of manus bone distal phalanx of manus human_phenotype HP:0041174 Fractured distal finger phalanx HP:0041174 A partial or complete breakage of the middle phalanx of pes. 2020-07-23T23:35:47Z bone middle phalanx of pes human_phenotype HP:0041175 Fractured middle phalanx of pes HP:0041175 A partial or complete breakage of the distal phalanx of manual digit 2. 2020-07-23T23:35:47Z bone distal phalanx of manual digit 2 human_phenotype HP:0041176 Fractured distal phalanx of manual digit 2 HP:0041176 A partial or complete breakage of the distal phalanx of manual digit 3. 2020-07-23T23:35:47Z bone distal phalanx of manual digit 3 human_phenotype HP:0041177 Fractured distal phalanx of manual digit 3 HP:0041177 A partial or complete breakage of the distal phalanx of manual digit 4. 2020-07-23T23:35:47Z bone distal phalanx of manual digit 4 human_phenotype HP:0041178 Fractured distal phalanx of manual digit 4 HP:0041178 A partial or complete breakage of the distal phalanx of manual digit 5. 2020-07-23T23:35:47Z bone distal phalanx of manual digit 5 human_phenotype HP:0041179 Fractured distal phalanx of manual digit 5 HP:0041179 A partial or complete breakage of the distal phalanx of pedal digit 1. 2020-07-23T23:35:47Z bone distal phalanx of pedal digit 1 human_phenotype HP:0041180 Fractured distal phalanx of pedal digit 1 HP:0041180 A partial or complete breakage of the distal phalanx of pedal digit 3. 2020-07-23T23:35:47Z bone distal phalanx of pedal digit 3 human_phenotype HP:0041181 Fractured distal phalanx of pedal digit 3 HP:0041181 A partial or complete breakage of the middle phalanx of manual digit 2. 2020-07-23T23:35:47Z bone middle phalanx of manual digit 2 human_phenotype HP:0041182 Fractured middle phalanx of manual digit 2 HP:0041182 A partial or complete breakage of the middle phalanx of manual digit 3. 2020-07-23T23:35:47Z bone middle phalanx of manual digit 3 human_phenotype HP:0041183 Fractured middle phalanx of manual digit 3 HP:0041183 A partial or complete breakage of the middle phalanx of manual digit 4. 2020-07-23T23:35:47Z bone middle phalanx of manual digit 4 human_phenotype HP:0041184 Fractured middle phalanx of manual digit 4 HP:0041184 A partial or complete breakage of the middle phalanx of manual digit 5. 2020-07-23T23:35:47Z bone middle phalanx of manual digit 5 human_phenotype HP:0041185 Fractured middle phalanx of manual digit 5 HP:0041185 A partial or complete breakage of the middle phalanx of pedal digit 3. 2020-07-23T23:35:47Z bone middle phalanx of pedal digit 3 human_phenotype HP:0041186 Fractured middle phalanx of pedal digit 3 HP:0041186 A partial or complete breakage of the proximal phalanx of pedal digit 1. 2020-07-23T23:35:47Z bone proximal phalanx of pedal digit 1 human_phenotype HP:0041187 Fractured proximal phalanx of pedal digit 1 HP:0041187 A partial or complete breakage of the proximal phalanx of manual digit 1. 2020-07-23T23:35:47Z bone proximal phalanx of manual digit 1 human_phenotype HP:0041188 Fractured proximal phalanx of manual digit 1 HP:0041188 A partial or complete breakage of the epiphysis of femur. 2020-07-23T23:35:47Z bone epiphysis of femur human_phenotype HP:0041189 Fractured epiphysis of femur HP:0041189 A partial or complete breakage of the epiphysis of second metacarpal bone. 2020-07-23T23:35:47Z bone epiphysis of second metacarpal bone human_phenotype HP:0041190 Fractured epiphysis of second metacarpal bone HP:0041190 A partial or complete breakage of the epiphysis of third metacarpal bone. 2020-07-23T23:35:47Z bone epiphysis of third metacarpal bone human_phenotype HP:0041191 Fractured epiphysis of third metacarpal bone HP:0041191 A partial or complete breakage of the epiphysis of fourth metacarpal bone. 2020-07-23T23:35:47Z bone epiphysis of fourth metacarpal bone human_phenotype HP:0041192 Fractured epiphysis of fourth metacarpal bone HP:0041192 A partial or complete breakage of the epiphysis of first metatarsal bone. 2020-07-23T23:35:47Z bone epiphysis of first metatarsal bone human_phenotype HP:0041193 Fractured epiphysis of first metatarsal bone HP:0041193 A partial or complete breakage of the epiphysis of second metatarsal bone. 2020-07-23T23:35:47Z bone epiphysis of second metatarsal bone human_phenotype HP:0041194 Fractured epiphysis of second metatarsal bone HP:0041194 A partial or complete breakage of the epiphysis of third metatarsal bone. 2020-07-23T23:35:47Z bone epiphysis of third metatarsal bone human_phenotype HP:0041195 Fractured epiphysis of third metatarsal bone HP:0041195 A partial or complete breakage of the distal epiphysis of radius. 2020-07-23T23:35:47Z bone distal epiphysis of radius human_phenotype HP:0041196 Fractured distal epiphysis of radius HP:0041196 A partial or complete breakage of the proximal epiphysis of first metacarpal bone. 2020-07-23T23:35:47Z bone proximal epiphysis of first metacarpal bone human_phenotype HP:0041197 Fractured proximal epiphysis of first metacarpal bone HP:0041197 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3. 2020-07-23T23:35:47Z bone proximal epiphysis of middle phalanx of manual digit 3 human_phenotype HP:0041198 Fractured proximal epiphysis of middle phalanx of manual digit 3 HP:0041198 A partial or complete breakage of the interphalangeal joint. 2020-07-23T23:35:47Z bone interphalangeal joint human_phenotype HP:0041199 Fractured interphalangeal joint HP:0041199 A partial or complete breakage of the sternal end of clavicle. 2020-07-23T23:35:47Z bone sternal end of clavicle human_phenotype HP:0041200 Fractured sternal end of clavicle HP:0041200 A partial or complete breakage of the epiphysis of middle phalanx of manus. 2020-07-23T23:35:47Z bone epiphysis of middle phalanx of manus human_phenotype HP:0041209 Fractured epiphysis of middle phalanx of manus HP:0041209 A partial or complete breakage of the lateral malleolus of fibula. 2020-07-23T23:35:47Z bone lateral malleolus of fibula human_phenotype HP:0041210 Fractured lateral malleolus of fibula HP:0041210 A partial or complete breakage of the proximal phalanx of digit 2. 2020-07-23T23:35:47Z bone proximal phalanx of digit 2 human_phenotype HP:0041211 Fractured proximal phalanx of digit 2 HP:0041211 A partial or complete breakage of the proximal phalanx of digit 3. 2020-07-23T23:35:47Z bone proximal phalanx of digit 3 human_phenotype HP:0041212 Fractured proximal phalanx of digit 3 HP:0041212 A partial or complete breakage of the proximal phalanx of digit 4. 2020-07-23T23:35:47Z bone proximal phalanx of digit 4 human_phenotype HP:0041213 Fractured proximal phalanx of digit 4 HP:0041213 A partial or complete breakage of the proximal phalanx of digit 5. 2020-07-23T23:35:47Z bone proximal phalanx of digit 5 human_phenotype HP:0041214 Fractured proximal phalanx of digit 5 HP:0041214 A partial or complete breakage of the fused metatarsal bones 2-4. 2020-07-23T23:35:47Z bone fused metatarsal bones 2-4 human_phenotype HP:0041215 Fractured fused metatarsal bones 2-4 HP:0041215 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1. 2020-07-23T23:35:47Z bone distal epiphysis of distal phalanx of manual digit 1 human_phenotype HP:0041216 Fractured distal epiphysis of distal phalanx of manual digit 1 HP:0041216 A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. 2020-07-23T23:35:47Z bone shoulder joint human_phenotype HP:0041217 Fractured shoulder HP:0041217 A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint. https://my.clevelandclinic.org/health/diseases/17470-shoulder-fractures#:~:text=Trauma%20may%20cause%20a%20fracture,of%20arthritis%20if%20left%20alone. A partial or complete breakage of the distal phalanx. 2020-07-23T23:35:47Z bone distal phalanx human_phenotype HP:0041218 Fractured distal phalanx HP:0041218 A partial or complete breakage of the elbow. 2020-07-23T23:35:47Z HP:0041154 Fractured elbow bone elbow human_phenotype HP:0041219 Elbow fracture HP:0041219 A partial or complete breakage of the elbow. PMID:28723005 A partial or complete breakage of the facial bone. 2020-07-23T23:35:47Z bone facial bone human_phenotype HP:0041220 Fractured facial bone HP:0041220 A partial or complete breakage of the head of femur. 2020-07-23T23:35:47Z bone head of femur human_phenotype HP:0041221 Fractured head of femur HP:0041221 A partial or complete breakage of the fibula. 2020-07-23T23:35:47Z Broken fibula Fibula fracture Fracture of the fibula bone fibula human_phenotype HP:0041222 Fractured fibula HP:0041222 A partial or complete breakage of the metatarsal bone of digit 5. 2020-07-23T23:35:47Z bone metatarsal bone of digit 5 human_phenotype HP:0041223 Fractured metatarsal bone of digit 5 HP:0041223 A partial or complete breakage of the manual digit bone. 2020-07-23T23:35:47Z bone manual digit bone human_phenotype HP:0041224 Fractured manual digit bone HP:0041224 A partial or complete breakage of the metacarpal bone of digit 1. 2020-07-23T23:35:47Z Fracture of the first metacarpal bone Fractured metacarpal bone of digit 1 bone metacarpal bone of digit 1 human_phenotype HP:0041225 Fractured 1st metacarpal HP:0041225 A partial or complete breakage of the distal tarsal bone. 2020-07-23T23:35:47Z bone distal tarsal bone human_phenotype HP:0041226 Fractured distal tarsal bone HP:0041226 A partial or complete breakage of the distal tarsal bone 2. 2020-07-23T23:35:47Z bone distal tarsal bone 2 human_phenotype HP:0041227 Fractured distal tarsal bone 2 HP:0041227 A partial or complete breakage of the distal tarsal bone 3. 2020-07-23T23:35:47Z bone distal tarsal bone 3 human_phenotype HP:0041228 Fractured distal tarsal bone 3 HP:0041228 A partial or complete breakage of the metatarsal bone of digit 4. 2020-07-23T23:35:47Z bone metatarsal bone of digit 4 human_phenotype HP:0041230 Fractured metatarsal bone of digit 4 HP:0041230 A partial or complete breakage of the metatarsal bone of digit 1. 2020-07-23T23:35:47Z bone metatarsal bone of digit 1 human_phenotype HP:0041231 Fractured metatarsal bone of digit 1 HP:0041231 HP:0004277 2020-07-23T23:35:47Z human_phenotype HP:0041232 obsolete Fractured skeleton of manual acropodium true HP:0041232 A partial or complete breakage of the ilium. 2020-07-23T23:35:47Z bone ilium human_phenotype HP:0041233 Fractured ilium HP:0041233 A partial or complete breakage of the bone of jaw. 2020-07-23T23:35:47Z bone bone of jaw human_phenotype HP:0041234 Fractured bone of jaw HP:0041234 A partial or complete breakage of the hindlimb bone. 2020-07-23T23:35:47Z bone hindlimb bone human_phenotype HP:0041235 Fractured hindlimb bone HP:0041235 A partial or complete breakage of the middle phalanx of a finger. 2020-07-23T23:35:47Z Fractured middle phalanx of manus bone middle phalanx of manus human_phenotype HP:0041236 Fractured middle phalanx of finger HP:0041236 A partial or complete breakage of the patella. 2020-07-23T23:35:47Z bone patella human_phenotype HP:0041237 Fractured patella HP:0041237 A partial or complete breakage of a phalanx of the thumb. 2020-07-23T23:35:47Z Fractured manual digit 1 phalanx bone manual digit 1 phalanx human_phenotype HP:0041239 Fractured thumb phalanx HP:0041239 A partial or complete breakage of the phalanx of pes. 2020-07-23T23:35:47Z Fractured phalanx of pes bone phalanx of pes human_phenotype HP:0041240 Toe phalanx fracture HP:0041240 A partial or complete breakage of the phalanx of a finger. 2020-07-23T23:35:47Z Fractured phalanx of manus bone phalanx of manus human_phenotype HP:0041241 Fractured finger phalanx HP:0041241 A partial or complete breakage of the proximal phalanx of manus. 2020-07-23T23:35:47Z Fractured proximal phalanx of manus bone proximal phalanx of manus human_phenotype HP:0041243 Fractured proximal phalanx of finger HP:0041243 A partial or complete breakage of the scapula. 2020-07-23T23:35:47Z bone scapula human_phenotype HP:0041244 Fractured scapula HP:0041244 A partial or complete breakage of a shoulder bone. 2020-07-23T23:35:47Z bone shoulder bone human_phenotype HP:0041245 The shoulder is made up of three bones: the scapula, clavicle, and humerus. Fractured shoulder bone HP:0041245 A partial or complete breakage of the sternum. 2020-07-23T23:35:47Z bone sternum human_phenotype HP:0041246 Fractured sternum HP:0041246 A partial or complete breakage of the tarsal bone. 2020-07-23T23:35:47Z bone tarsal bone human_phenotype HP:0041247 Fractured tarsal bone HP:0041247 A partial or complete breakage of the carpal bone. 2020-07-23T23:35:47Z Broken wrist Carpal bone fracture Fractured wrist Wrist fracture bone carpal bone human_phenotype HP:0041248 Fractured carpal bone HP:0041248 A partial or complete breakage of the nose. 2020-07-23T23:35:47Z bone nose human_phenotype HP:0041249 Fractured nose HP:0041249 UMLS:C4022409 human_phenotype HP:0045001 Abnormal ossification of the trapezium HP:0045001 UMLS:C4022408 human_phenotype HP:0045002 Absent ossification of the trapezium HP:0045002 UMLS:C4022407 human_phenotype HP:0045003 Abnormal ossification of the scaphoid HP:0045003 UMLS:C4022406 human_phenotype HP:0045004 Abnormal ossification of the trapezoid bone HP:0045004 A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. SNOMEDCT_US:253098009 UMLS:C0027794 Abnormality of neural tube closure NTD human_phenotype HP:0045005 Neural tube defect HP:0045005 A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. PMID:19808787 https://orcid.org/0000-0002-0736-9199 NTD Aplasia (absence) of the lymphatic vessels. UMLS:C4022404 Absent lymphatic vessels human_phenotype HP:0045006 Aplasia of lymphatic vessels HP:0045006 Aplasia (absence) of the lymphatic vessels. https://orcid.org/0000-0001-5208-3432 Absent lymphatic vessels https://orcid.org/0000-0001-5208-3432 A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. UMLS:C4022403 Abnormality of the substantia nigra human_phenotype HP:0045007 Abnormal substantia nigra morphology HP:0045007 UMLS:C4022402 human_phenotype HP:0045008 Abnormal shape of the radius HP:0045008 HP:0002818 human_phenotype HP:0045009 obsolete Abnormal morphology of the radius true HP:0045009 Abnormal morphology of a specific peripheral nerve UMLS:C4022400 human_phenotype HP:0045010 Abnormal peripheral nerve morphology by anatomical site HP:0045010 Abnormally decreased concentration of hydrogencarbonate in the urine. UMLS:C4022399 Decreased urine HCO3 concentration human_phenotype HP:0045011 Decreased urine bicarbonate concentration HP:0045011 Decreased urine HCO3 concentration UMLS:C4022398 human_phenotype HP:0045012 Decreased urinary catecholamine concentration HP:0045012 HP:0033354 human_phenotype HP:0045013 obsolete Decreased urinary glucose concentration true HP:0045013 SNOMEDCT_US:238090007 UMLS:C0342892 human_phenotype HP:0045014 Hypolipidemia HP:0045014 HP:0003455 Increased serum long-chain fatty acids human_phenotype HP:0045016 obsolete Elevated serum long-chain fatty acids true HP:0045016 Defect or defects of the morphogenesis of the left heart identifiable at birth. UMLS:C4022397 human_phenotype HP:0045017 Congenital malformation of the left heart HP:0045017 UMLS:C4022396 Partial double eyebrow Partial duplication of eyebrows human_phenotype HP:0045018 Partial duplication of eyebrows HP:0045018 Partial double eyebrow https://orcid.org/0000-0001-5889-4463 Partial duplication of eyebrows Reduction in the vertical distance between the upper and lower eyelids. UMLS:C1837464 UMLS:C2675021 Narrow palpebral fissures Small opening between the eyelids Small palpebral fissures Decreased size of palpebral fissure human_phenotype Narrow eyelid opening HP:0045025 Narrow palpebral fissure HP:0045025 Reduction in the vertical distance between the upper and lower eyelids. https://orcid.org/0000-0002-0736-9199 Small opening between the eyelids https://orcid.org/0000-0001-5889-4463 Small palpebral fissures https://orcid.org/0000-0002-5316-1399 Decreased size of palpebral fissure https://orcid.org/0000-0001-5889-4463 Narrow eyelid opening Any structural anomaly of the central compartment of the thoracic cavity. HP:0100722 UMLS:C4022395 Abnormality of the mediastinum human_phenotype HP:0045026 Abnormal mediastinum morphology HP:0045026 UMLS:C4022394 human_phenotype HP:0045027 Abnormality of the thoracic cavity HP:0045027 Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. UMLS:C4021030 Lissencephaly type III Type 3 lissencephaly Type III lissencephaly human_phenotype HP:0045028 This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly. Microlissencephaly HP:0045028 Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. PMID:8779318 Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. SNOMEDCT_US:24129002 UMLS:C0264005 human_phenotype HP:0045029 Eosinophilic fasciitis HP:0045029 Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues. https://medlineplus.gov/ency/article/000447.htm An increased amount of 3-aminoisobutyric acid in the urine. UMLS:C4022393 human_phenotype HP:0045034 Elevated urinary 3-aminoisobutyric acid HP:0045034 UMLS:C4073164 Decreased urinary copper concentration human_phenotype HP:0045035 Decreased urinary copper concentration HP:0045035 Decreased urinary copper concentration UMLS:C4073165 Abnormal urinary copper concentration human_phenotype HP:0045036 Abnormal urinary copper concentration HP:0045036 Abnormal urinary copper concentration 2015-08-21T17:38:50Z UMLS:C4073166 Abnormality of jaw muscles human_phenotype HP:0045037 Abnormality of jaw muscles HP:0045037 Abnormality of jaw muscles Lymphoma that originates in the stomach itself. 2015-08-22T16:56:39Z SNOMEDCT_US:276811008 UMLS:C0349532 Primary gastric lymphoma human_phenotype HP:0045038 An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas. Gastric lymphoma HP:0045038 2015-08-22T17:28:03Z UMLS:C4073167 human_phenotype HP:0045039 Osteolysis involving bones of the upper limbs HP:0045039 A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. 2015-08-23T16:29:50Z UMLS:C4073168 Abnormal LDH level Abnormal circulating LDH concentration Abnormal lactate dehydrogenase level AbnormalLDH level human_phenotype HP:0045040 Abnormal circulating lactate dehydrogenase concentration HP:0045040 A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. PMID:25984930 Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal. 2015-08-23T16:29:50Z UMLS:C3279904 human_phenotype HP:0045041 Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. Reduced circulating lactate dehydrogenase concentration HP:0045041 Concentration of the complement component C4 in the blood circulation below the lower limit of normal. 2015-08-24T21:13:57Z UMLS:C4073169 Decreased serum complement C4 Decreased serum complement C4 level human_phenotype HP:0045042 Decreased circulating complement C4 concentration HP:0045042 Concentration of the complement component C4 in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview Concentration of the complement component C4a in the blood circulation below the lower limit of normal. 2015-08-24T21:13:57Z UMLS:C4073170 C4a deficiency Complement component 4A deficiency Decreased serum complement C4a human_phenotype HP:0045043 Decreased circulating complement C4a concentration HP:0045043 Concentration of the complement component C4a in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview Concentration of the complement component C4b in the blood circulation below the lower limit of normal. 2015-08-24T21:13:57Z UMLS:C3280641 C4b deficiency Complement component 4B deficiency human_phenotype HP:0045044 Decreased circulating complement C4b concentration HP:0045044 Concentration of the complement component C4b in the blood circulation below the lower limit of normal. https://emedicine.medscape.com/article/135478-overview Concentration of acylcarnitine in the blood circulation above the upper limit of normal. 2015-08-25T06:54:51Z UMLS:C4073171 Elevated plasma acylcarnitine levels human_phenotype HP:0045045 Elevated circulating acylcarnitine concentration HP:0045045 The concentration of insulin-like growth factor-binding protein acid labile subunit in the blood circulation is below the lower limit of normal. 2015-09-15T12:03:07Z UMLS:C3900122 Acid-labile subunit deficiency Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentration Decreased insulin-like growth factor-binding protein complex acid labile subunit concentration Decreased insulin-like growth factor-binding protein complex acid labile subunit level Decreased insulin-like growth factor-binding protein complex acid labile subunit level in blood Decreased levels of acid labile subunit Reduced insulin like growth factor binding protein acid labile subunit level Reduced insulin-like growth factor-binding protein complex acid labile subunit concentration Reduced insulin-like growth factor-binding protein complex acid labile subunit level Reduced insulin-like growth factor-binding protein complex acid labile subunit level in blood human_phenotype HP:0045046 Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentration HP:0045046 Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene. wikipedia Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. 2015-09-24T18:31:28Z SNOMEDCT_US:50095005 UMLS:C0019043 HbS haemoglobin human_phenotype HP:0045047 HbS hemoglobin HP:0045047 Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. PMID:34406727 PMID:3953566 https://orcid.org/0000-0002-0736-9199 HbS haemoglobin An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. 2015-09-24T18:44:26Z UMLS:C4073172 Increased HbA2 haemoglobin Increased haemoglobin A2 Increased hemoglobin A2 human_phenotype HP:0045048 Increased HbA2 hemoglobin HP:0045048 An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. PMID:26372049 https://orcid.org/0000-0002-0736-9199 Increased HbA2 haemoglobin Increased haemoglobin A2 An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. 2015-09-24T19:00:25Z UMLS:C4073173 Abnormal TLCO Abnormal diffusing capacity Abnormal transfer factor of the lung for carbon monoxide human_phenotype HP:0045049 Inhaled CO is used for this test due to its high affinity for hemoglobin (200-250 times that of oxygen). During a ten-second breath-hold, DLCO measures uptake of CO per unit time per mm of driving pressure of CO (cc of CO/sec/mm of Hg). Abnormal DLCO HP:0045049 An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs. PMID:32310609 Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. 2015-09-24T19:00:25Z UMLS:C4073174 Increased diffusing capacity human_phenotype HP:0045050 Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage. Increased DLCO HP:0045050 Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. PMID:32310609 Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. 2015-09-24T19:00:25Z UMLS:C4073175 Decreased diffusing capacity human_phenotype HP:0045051 DLCO is decreased in any condition which affects the effective alveolar surface area Decreased DLCO HP:0045051 Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. PMID:32310609 Any abnormality of the brachial nerve plexus. 2015-09-25T11:14:34Z UMLS:C4073176 human_phenotype HP:0045052 Abnormality of the brachial nerve plexus HP:0045052 Any abnormality of the lumbosacral nerve plexus. 2015-09-25T11:14:34Z UMLS:C4073177 human_phenotype HP:0045053 Abnormality of the lumbosacral nerve plexus HP:0045053 2015-09-25T11:14:34Z SNOMEDCT_US:3548001 UMLS:C0700251 human_phenotype HP:0045054 Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484 Brachial plexus neuropathy HP:0045054 An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. 2015-09-25T13:54:16Z HP:0032461 UMLS:C4073178 Tiger tail banding Tiger-tail banding human_phenotype HP:0045055 Tiger tail banding HP:0045055 An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. PMID:15692466 Tiger tail banding Any deviation from the normal concentration of alpha-fetoprotein in the blood circulation. 2015-09-25T14:39:56Z UMLS:C4073179 Abnormal alpha-fetoprotein level Abnormal circulating alpha-fetoprotein concentration human_phenotype HP:0045056 Abnormal circulating alpha-fetoprotein concentration HP:0045056 The concentration of alpha-fetoprotein in the blood circulation is below the lower limit of normal. 2015-09-25T14:39:56Z UMLS:C4073295 Decreased alpha-fetoprotein concentration Decreased alpha-fetoprotein level Decreased alpha-fetoprotein level in blood Decreased circulating alpha-fetoprotein concentration Reduced alpha-fetoprotein concentration Reduced alpha-fetoprotein level Reduced alpha-fetoprotein level in blood human_phenotype HP:0045057 Decreased circulating alpha-fetoprotein concentration HP:0045057 An anomaly of the size of the testicle (the male gonad). 2015-11-20T13:19:19Z UMLS:C4073180 human_phenotype HP:0045058 Abnormality of the testis size HP:0045058 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). 2015-11-27T11:17:37Z UMLS:C2047516 human_phenotype HP:0045059 Hyperkeratotic papule HP:0045059 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). PMID:3632007 2015-11-28T09:52:12Z UMLS:C4073181 human_phenotype HP:0045060 Aplasia/hypoplasia involving bones of the extremities HP:0045060 2015-11-29T12:35:25Z UMLS:C4073182 human_phenotype HP:0045061 Decreased carnitine level in liver HP:0045061 Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. 2016-01-27T11:45:59Z UMLS:C1112467 Increased prothrombin induced by vitamin K absence-II human_phenotype HP:0045063 PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA). Increased PIVKA-II HP:0045063 Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells. PMID:12717392 https://orcid.org/0000-0002-0736-9199 true HP:0045071 true HP:0045072 Inflammation in any serous cavity. 2016-07-12T22:02:49Z human_phenotype HP:0045073 Serositis HP:0045073 Inflammation in any serous cavity. https://orcid.org/0000-0002-5316-1399 Decreased diameter of eyebrow hairs. 2016-07-28T11:49:07Z Thin eyebrow Thin eyebrows human_phenotype HP:0045074 Thin eyebrow HP:0045074 Thin eyebrow Thin eyebrows Decreased density/number of eyebrow hairs. 2016-07-28T11:49:07Z HP:0002222 HP:0002554 HP:0004520 HP:0004551 Hypotrichosis of eyebrow Sparse eyebrow Sparse eyebrows human_phenotype HP:0045075 Sparseness can be regional (medial, central, lateral) or total. Sparse eyebrow HP:0045075 Decreased density/number of eyebrow hairs. PMID:19125427 https://orcid.org/0000-0002-5316-1399 Hypotrichosis of eyebrow https://orcid.org/0000-0002-5316-1399 Sparse eyebrow Sparse eyebrows Irregularity of the normally smooth surface of the distal metaphysis of the femur. 2017-01-03T09:55:57Z Irregular distal femoral metaphyses human_phenotype HP:0045079 Distal femoral metaphyseal irregularity HP:0045079 HP:0005403 2017-01-03T10:32:08Z human_phenotype HP:0045080 obsolete Decreased CD3+ T cell proportion true HP:0045080 Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages. 2017-02-14T14:20:40Z Abnormal BMI Abnormal body mass index human_phenotype HP:0045081 Abnormality of body mass index HP:0045081 Abnormal BMI Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. 2017-02-14T14:20:40Z Decreased BMI human_phenotype HP:0045082 Decreased body mass index HP:0045082 Decreased BMI 2017-02-14T14:20:40Z HP:0004324 human_phenotype HP:0045083 obsolete Increased body mass index true HP:0045083 2017-02-14T14:37:26Z Myoclonus of limbs human_phenotype HP:0045084 Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 Limb myoclonus HP:0045084 2017-03-09T13:35:14Z Atrophied masseter muscle Masseter muscle atrophy human_phenotype HP:0045085 Atrophy of masseter muscle HP:0045085 The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). 2017-03-09T13:52:36Z Knee joint over-flexibility human_phenotype HP:0045086 Knee joint hypermobility HP:0045086 The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). PMID:28599980 https://orcid.org/0000-0002-6387-4317 Knee joint over-flexibility 2017-03-09T13:52:36Z human_phenotype HP:0045087 Hip joint hypermobility HP:0045087 Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. 2019-07-09T12:04:42Z human_phenotype HP:0045088 Clinical relevance HP:0045088 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. 2019-07-09T12:04:42Z human_phenotype HP:0045089 Distinctive finding HP:0045089 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. 2019-07-09T12:04:42Z human_phenotype HP:0045090 Minor finding HP:0045090 Inability of individual to reach orgasm. 2020-05-24T08:10:26Z human_phenotype HP:0046502 Anorgasmia HP:0046502 Elevated sexual desire. 2020-05-25T10:02:07Z human_phenotype HP:0046503 Increased libido HP:0046503 Decreased sexual desire. 2020-05-25T10:02:07Z human_phenotype HP:0046504 Decreased libido HP:0046504 An unpleasant sensation characterized by physical discomfort localized to the hand. 2020-05-26T15:13:51Z human_phenotype HP:0046505 Hand pain HP:0046505 2020-05-26T15:17:43Z human_phenotype HP:0046506 Pain in head and neck region HP:0046506 Bradypnea is referring to breathing that is abnormally slow. 2020-06-05T13:01:51Z SNOMED_CT:86684002 human_phenotype HP:0046507 Bradypnea HP:0046507 Any morphological abnormality of the cervical vertebral column. 2020-06-05T13:01:51Z SNOMED_CT:298391004 human_phenotype HP:0046508 Abnormal cervical spine morphology HP:0046508 An early onset of puberty, in this case early does not refer to precocious. 2010-05-04T10:35:02Z UMLS:C4022392 Early onset of sexual maturation human_phenotype HP:0100000 Early onset of sexual maturation HP:0100000 An early onset of puberty, in this case early does not refer to precocious. https://orcid.org/0000-0002-0736-9199 Early onset of sexual maturation Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. 2010-05-11T04:10:29Z SNOMEDCT_US:62064005 UMLS:C0345967 human_phenotype HP:0100001 Malignant mesothelioma HP:0100001 Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. https://orcid.org/0009-0006-4530-3154 A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. 2010-05-11T04:16:23Z NCIT:C3234 SNOMEDCT_US:254645002 UMLS:C0812413 human_phenotype HP:0100002 Pleural mesothelioma HP:0100002 A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma. https://orcid.org/0009-0006-4530-3154 A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. 2010-05-11T04:16:23Z NCIT:C3234 SNOMEDCT_US:109853004 UMLS:C0346109 human_phenotype HP:0100003 Peritoneal mesothelioma HP:0100003 A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma. https://orcid.org/0009-0006-4530-3154 A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). 2010-05-11T04:16:23Z NCIT:C3234 UMLS:C1335381 human_phenotype HP:0100004 Pericardial mesothelioma HP:0100004 A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart). https://orcid.org/0009-0006-4530-3154 A Malignant mesothelioma of the testis. 2010-05-11T04:16:23Z NCIT:C3234 UMLS:C4022391 human_phenotype HP:0100005 Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma. Testicular mesothelioma HP:0100005 A Malignant mesothelioma of the testis. https://orcid.org/0000-0002-0736-9199 A neoplasm of the central nervous system. 2010-05-14T09:11:53Z NCIT:C3262 SNOMEDCT_US:126951006 UMLS:C0085136 Neoplasm of the CNS Tumors of the central nervous system Tumours of the central nervous system human_phenotype Neoplasia of the central nervous system HP:0100006 Neoplasm of the central nervous system HP:0100006 A neoplasm of the central nervous system. https://orcid.org/0000-0002-0736-9199 Neoplasm of the CNS Tumors of the central nervous system https://orcid.org/0009-0006-4530-3154 Tumours of the central nervous system A benign or malignant neoplasm (tumor) of the peripheral nervous system. 2010-05-14T09:11:53Z NCIT:C3262 SNOMEDCT_US:126980002 UMLS:C0031118 Tumor of the peripheral nervous system Tumour of the peripheral nervous system human_phenotype HP:0100007 Neoplasm of the peripheral nervous system HP:0100007 A benign or malignant neoplasm (tumor) of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 Tumor of the peripheral nervous system https://orcid.org/0009-0006-4530-3154 Tumour of the peripheral nervous system A benign nerve sheath tumor composed of Schwann cells. 2010-05-14T09:13:07Z SNOMEDCT_US:404022001 SNOMEDCT_US:985004 UMLS:C0027809 Neurilemmoma Neurinoma Neurolemmoma Schwann cell tumor Schwann cell tumour human_phenotype Schwannomas HP:0100008 Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. Schwannoma HP:0100008 A benign nerve sheath tumor composed of Schwann cells. https://orcid.org/0009-0006-4530-3154 Schwann cell tumour Schwannomas https://orcid.org/0000-0002-5316-1399 2010-05-14T09:29:27Z SNOMEDCT_US:302820008 UMLS:C0349604 human_phenotype HP:0100009 Intracranial meningioma HP:0100009 2010-05-14T09:29:27Z NCIT:C3230 SNOMEDCT_US:189167009 UMLS:C0347515 human_phenotype HP:0100010 Spinal meningioma HP:0100010 2010-05-14T09:41:55Z NCIT:C3269 UMLS:C4022390 human_phenotype HP:0100011 Scleral schwannoma HP:0100011 A tumor (abnormal growth of tissue) of the eye. 2010-05-14T09:43:34Z NCIT:C3262 SNOMEDCT_US:371486001 UMLS:C0015414 Eye tumor Eye tumour human_phenotype Neoplasia of the eye HP:0100012 Neoplasm of the eye HP:0100012 A tumor (abnormal growth of tissue) of the eye. https://orcid.org/0000-0002-0736-9199 Eye tumor https://orcid.org/0000-0001-6908-9849 Eye tumour A tumor (abnormal growth of tissue) of the breast. 2010-05-14T09:45:09Z HP:0010623 NCIT:C3262 SNOMEDCT_US:126926005 UMLS:C1458155 Breast tumor Breast tumour Tumours of the breast human_phenotype Neoplasia of the breast HP:0100013 Neoplasm of the breast HP:0100013 A tumor (abnormal growth of tissue) of the breast. https://orcid.org/0000-0002-0736-9199 Breast tumor https://orcid.org/0000-0001-5208-3432 Breast tumour Tumours of the breast An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. 2010-05-14T09:53:27Z SNOMEDCT_US:133853005 SNOMEDCT_US:367649002 UMLS:C0339543 Cellophane maculopathy Macular pucker Premacular fibrosis Surface wrinkling retinopathy human_phenotype Epiretinal membranes HP:0100014 If the epiretinal membrane is localized in the macula, it can cause disturbances of vision. Epiretinal membrane HP:0100014 An epiretinal membrane is a thin sheet of fibrous tissue on the surface of the retina along the inner limiting membrane. It appears as a greyish semi-translucent avascular membrane over the internal limiting membrane (ILM) on the surface of the retina. PMID:32809538 https://orcid.org/0009-0006-4530-3154 Epiretinal membranes https://orcid.org/0000-0002-5316-1399 The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. 2010-05-25T10:30:14Z SNOMEDCT_US:253252004 UMLS:C1862689 Additional crus Third crus human_phenotype HP:0100015 The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980]. Stahl ear HP:0100015 The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. https://orcid.org/0009-0006-4530-3154 Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). 2010-05-25T11:20:36Z UMLS:C4022389 Abnormality of mesentery morphology human_phenotype Abnormality of the mesentery HP:0100016 Abnormal mesentery morphology HP:0100016 Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). https://orcid.org/0009-0006-4530-3154 A cataract that affects the capsule of the lens. 2010-05-27T06:01:54Z SNOMEDCT_US:204125003 UMLS:C0339352 human_phenotype HP:0100017 Capsular cataract HP:0100017 A cataract that affects the capsule of the lens. https://orcid.org/0000-0002-0736-9199 A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. 2010-05-28T11:34:45Z HP:0007672 HP:0007781 HP:0008024 SNOMEDCT_US:53889007 UMLS:C0392557 Yellowish cloudy center of lens Yellowish cloudy centre of lens human_phenotype HP:0100018 Nuclear cataract HP:0100018 A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. https://orcid.org/0009-0006-4530-3154 Yellowish cloudy center of lens https://orcid.org/0000-0001-6908-9849 Yellowish cloudy centre of lens A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. 2010-05-28T11:35:33Z HP:0007876 SNOMEDCT_US:193576003 UMLS:C0271160 human_phenotype HP:0100019 Cortical cataract HP:0100019 A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. https://orcid.org/0009-0006-4530-3154 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. 2010-05-28T11:36:49Z UMLS:C4022388 human_phenotype HP:0100020 Posterior capsular cataract HP:0100020 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. https://orcid.org/0009-0006-4530-3154 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. 2010-05-28T11:46:16Z SNOMEDCT_US:128188000 UMLS:C0007789 CP Cerebral paralysis human_phenotype HP:0100021 Cerebral palsy HP:0100021 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems. https://orcid.org/0009-0006-4530-3154 CP An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. 2010-05-28T11:48:50Z HP:0001294 SNOMEDCT_US:60342002 UMLS:C0026650 Abnormality of movement Movement disorder Unusual movement human_phenotype HP:0100022 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. Abnormality of movement HP:0100022 An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. https://orcid.org/0000-0002-0736-9199 Abnormality of movement Movement disorder Unusual movement A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically. 2010-05-28T12:10:09Z UMLS:C4022387 human_phenotype HP:0100023 Recurrent hand flapping HP:0100023 An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger. 2010-05-28T05:32:35Z UMLS:C4021029 Conspicious happy aspect Happy aspect human_phenotype HP:0100024 Conspicuously happy disposition HP:0100024 A form of hypersociability that presents as mostly inappropriate friendliness towards others. 2010-05-28T05:42:06Z UMLS:C4022386 Excessive eagerness to interact with others Excessive friendliness Excessive gregariousness Hypersociability Overfamiliarity human_phenotype HP:0100025 In some cases, overfriendliness may be dangerous for affected children, for example, if young children follow strangers without restriction. Overfriendliness HP:0100025 A form of hypersociability that presents as mostly inappropriate friendliness towards others. PMID:10953232 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. 2010-05-31T05:32:31Z SNOMEDCT_US:234141001 SNOMEDCT_US:24551003 UMLS:C0003857 human_phenotype HP:0100026 Arteriovenous malformation HP:0100026 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. https://orcid.org/0000-0002-0736-9199 A recurrent form of pancreatitis. 2010-06-01T01:45:23Z SNOMEDCT_US:233870001 SNOMEDCT_US:234689009 SNOMEDCT_US:235494005 UMLS:C0149521 Recurring pancreas inflammation Recurring pancreatitis human_phenotype HP:0100027 Recurrent pancreatitis HP:0100027 A recurrent form of pancreatitis. https://orcid.org/0000-0002-0736-9199 Recurring pancreas inflammation https://orcid.org/0000-0001-5208-3432 Mislocalised thyroid gland. 2010-06-10T10:16:37Z SNOMEDCT_US:214660000 UMLS:C0266283 Aberrant thyroid Aberrant thyroid gland Abnormal thyroid location Ectopic thyroid gland Heteropic thyroid gland human_phenotype HP:0100028 An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Apart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. Ectopic thyroid HP:0100028 Mislocalised thyroid gland. https://orcid.org/0009-0006-4530-3154 Aberrant thyroid https://orcid.org/0009-0006-4530-3154 Aberrant thyroid gland https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormal thyroid location https://orcid.org/0000-0001-5208-3432 Ectopic thyroid gland https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Heteropic thyroid gland https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. 2010-06-10T10:20:31Z SNOMEDCT_US:129123002 SNOMEDCT_US:21279007 UMLS:C0266284 human_phenotype HP:0100029 A lingual thyroid is the most common form of an aberrant thyroid gland. Lingual thyroid HP:0100029 An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend. https://orcid.org/0009-0006-4530-3154 Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. 2010-06-10T10:25:46Z UMLS:C4022385 human_phenotype HP:0100030 While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed. Accessory ectopic thyroid tissue HP:0100030 Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. https://orcid.org/0009-0006-4530-3154 A tumor (abnormal growth of tissue) of the thyroid gland. 2010-06-10T10:30:24Z NCIT:C3262 SNOMEDCT_US:127018007 UMLS:C0040136 human_phenotype Neoplasia of the thyroid gland HP:0100031 Neoplasm of the thyroid gland HP:0100031 A tumor (abnormal growth of tissue) of the thyroid gland. https://orcid.org/0000-0002-0736-9199 true HP:0100032 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. 2010-06-10T12:10:29Z UMLS:C2169806 Tic disorder human_phenotype HP:0100033 Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. Tics HP:0100033 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. PMID:20589866 Tic disorder https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Movement-based tics affecting discrete muscle groups. 2010-06-10T12:13:57Z UMLS:C0751900 human_phenotype HP:0100034 Motor tics HP:0100034 Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. 2010-06-10T12:13:57Z UMLS:C0751901 Verbal tics Vocal tics human_phenotype HP:0100035 In Tourette syndrome (TS), affected individuals have tics, including phonic and vocal behaviors, that are typically preceded by premonitory urges and can be suppressed voluntarily. Individuals with autism spectrum disorders (ASD) may also present with vocal tics. However, in ASD premonitory urges and overall vocal tic awareness may be reduced compared to people with primary tic disorders and TS. Phonic tics have been described in a variety of other disorders including Klinefelter, fragile X, and Adams-Oliver syndrome, monosomy 9p and trisomy 16p, neurodegenerative syndromes such as Huntington disease. Furthermore, chorea-acanthocytosis because of VPS13A mutations, Amyotrophic lateral sclerosis frontotemporal dementia overlap syndromes, progressive supranuclear palsy, and pantothenate kinase-associated neurodegeneration may present with vocal tics. Neurometabolic disorders such as Wilson's disease or phenylketonuria, focal brain lesions, infectious, and other autoimmune diseases are additional causes of vocal tics. Finally, phonic or vocal tics may also be drug-induced, either directly related to the acute effects of drugs (e.g., cocaine) or as a long-term consequence, such as in tardive tic disorders. Phonic tics HP:0100035 Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome. PMID:31651053 Verbal tics https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Vocal tics https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. 2010-06-14T05:25:53Z UMLS:C4021028 Looser zones human_phenotype HP:0100036 Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone. Pseudo-fractures HP:0100036 A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. https://orcid.org/0009-0006-4530-3154 An abnormality of the hair of head. 2010-06-22T05:29:31Z UMLS:C4022384 Abnormality of the scalp hair human_phenotype HP:0100037 Abnormality of the scalp hair HP:0100037 An abnormality of the hair of head. https://orcid.org/0000-0002-0736-9199 Abnormality of the scalp hair Scalp hair whose growth is slower than normal. 2010-06-22T05:46:59Z HP:0004553 UMLS:C4022383 Slow-growing scalp hair human_phenotype HP:0100038 Slow-growing scalp hair HP:0100038 Scalp hair whose growth is slower than normal. https://orcid.org/0000-0003-1773-4011 Slow-growing scalp hair An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. 2010-06-24T09:39:01Z UMLS:C4022382 human_phenotype HP:0100039 Thickened cortex of bones HP:0100039 An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones. https://orcid.org/0009-0006-4530-3154 A broad appearance of the second toe. 2010-06-24T09:52:57Z UMLS:C4022381 Wide 2nd toe human_phenotype HP:0100040 Note that an apparent broad appearance might be due to a hidden duplication. Broad 2nd toe HP:0100040 A broad appearance of the second toe. https://orcid.org/0009-0006-4530-3154 Wide 2nd toe A broad appearance of the third toe. 2010-06-24T09:54:55Z UMLS:C4022380 Broad 3rd toe Wide 3rd toe human_phenotype HP:0100041 Broad 3rd toe HP:0100041 A broad appearance of the third toe. https://orcid.org/0009-0006-4530-3154 Broad 3rd toe Wide 3rd toe https://orcid.org/0000-0001-5208-3432 A broad appearance of the fourth toe. 2010-06-24T09:55:43Z UMLS:C4022379 Broad 4th toe Wide 4th toe human_phenotype HP:0100042 Broad 4th toe HP:0100042 A broad appearance of the fourth toe. https://orcid.org/0009-0006-4530-3154 Broad 4th toe Wide 4th toe https://orcid.org/0000-0001-5208-3432 A broad appearance of the fifth toe. 2010-06-24T09:56:25Z UMLS:C4022378 Broad 5th toe Broad little toe Broad pinkie toe Broad pinky toe human_phenotype HP:0100043 Broad 5th toe HP:0100043 A broad appearance of the fifth toe. https://orcid.org/0009-0006-4530-3154 Broad 5th toe Broad little toe https://orcid.org/0000-0001-5208-3432 Broad pinkie toe https://orcid.org/0000-0001-5208-3432 Broad pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022377 Absent end part of the 2nd toe bone human_phenotype HP:0100044 Absent epiphyses of the 2nd toe HP:0100044 Absent end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022376 Bracket shaped end part of 2nd toe bone human_phenotype HP:0100045 Bracket epiphyses of the 2nd toe HP:0100045 Bracket shaped end part of 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022375 Cone-shaped end part of the 2nd toe bone human_phenotype HP:0100046 Cone-shaped epiphyses of the 2nd toe HP:0100046 Cone-shaped end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022374 Enlarged end part of the 2nd toe bone human_phenotype HP:0100047 Enlarged epiphyses of the 2nd toe HP:0100047 Enlarged end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022373 Fragmentation of the end part of the 2nd toe bone human_phenotype HP:0100048 Fragmentation of the epiphyses of the 2nd toe HP:0100048 Fragmentation of the end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022372 Irregular end part of the 2nd toe bone human_phenotype HP:0100049 Irregular epiphyses of the 2nd toe HP:0100049 Irregular end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2010-06-24T09:58:18Z UMLS:C4022371 Increased bone density of end part of the 2nd toe human_phenotype HP:0100050 Ivory epiphyses of the 2nd toe HP:0100050 Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022370 human_phenotype HP:0100051 Pseudoepiphyses of the 2nd toe HP:0100051 2010-06-24T09:58:18Z UMLS:C4022369 Small end part of the 2nd toe bone human_phenotype HP:0100052 Small epiphyses of the 2nd toe HP:0100052 Small end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. 2010-06-24T09:58:18Z UMLS:C4022368 Speckled calcifications in the end part of the 2nd toe bone human_phenotype HP:0100053 Stippling of the epiphyses of the 2nd toe HP:0100053 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:18Z UMLS:C4022367 Triangular end part of the 2nd toe bone human_phenotype HP:0100054 Triangular epiphyses of the 2nd toe HP:0100054 Triangular end part of the 2nd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022366 Absent end part of the 3rd toe human_phenotype HP:0100055 Absent epiphyses of the 3rd toe HP:0100055 Absent end part of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022365 Bracket shaped end part of 3rd toe bone human_phenotype HP:0100056 Bracket epiphyses of the 3rd toe HP:0100056 Bracket shaped end part of 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022364 Cone-shaped end part of the 3rd toe bone human_phenotype HP:0100057 Cone-shaped epiphyses of the 3rd toe HP:0100057 Cone-shaped end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022363 Enlarged end part of the 3rd toe bone human_phenotype HP:0100058 Enlarged epiphyses of the 3rd toe HP:0100058 Enlarged end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022362 Fragmentation of the end part of the 3rd toe bone human_phenotype HP:0100059 Fragmentation of the epiphyses of the 3rd toe HP:0100059 Fragmentation of the end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022361 Irregular end part of the 3rd toe bone human_phenotype HP:0100060 Irregular epiphyses of the 3rd toe HP:0100060 Irregular end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2010-06-24T09:58:55Z UMLS:C4022360 Increased bone density of end part of the 3rd toe bone human_phenotype HP:0100061 Ivory epiphyses of the 3rd toe HP:0100061 Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022359 human_phenotype HP:0100062 Pseudoepiphyses of the 3rd toe HP:0100062 2010-06-24T09:58:55Z UMLS:C4022358 Small end part of the 3rd toe bone human_phenotype HP:0100063 Small epiphyses of the 3rd toe HP:0100063 Small end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. 2010-06-24T09:58:55Z UMLS:C4022357 Speckled calcifications in the end part of the 3rd toe bone human_phenotype HP:0100064 Stippling of the epiphyses of the 3rd toe HP:0100064 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:58:55Z UMLS:C4022356 Triangular end part of the 3rd toe bone human_phenotype HP:0100065 Triangular epiphyses of the 3rd toe HP:0100065 Triangular end part of the 3rd toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022355 Absent end part of the 4th toe bone human_phenotype HP:0100066 Absent epiphyses of the 4th toe HP:0100066 Absent end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022354 Bracket shaped end part of 4th toe bone human_phenotype HP:0100067 Bracket epiphyses of the 4th toe HP:0100067 Bracket shaped end part of 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022353 Cone-shaped end part of the 4th toe bone human_phenotype HP:0100068 Cone-shaped epiphyses of the 4th toe HP:0100068 Cone-shaped end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022352 Enlarged end part of the 4th toe bone human_phenotype HP:0100069 Enlarged epiphyses of the 4th toe HP:0100069 Enlarged end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022351 Fragmentation of the end part of the 4th toe bone human_phenotype HP:0100070 Fragmentation of the epiphyses of the 4th toe HP:0100070 Fragmentation of the end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022350 Irregular end part of the 4th toe bone human_phenotype HP:0100071 Irregular epiphyses of the 4th toe HP:0100071 Irregular end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2010-06-24T09:59:30Z UMLS:C4022349 Increased bone density of end part of the 4th toe bone human_phenotype HP:0100072 Ivory epiphyses of the 4th toe HP:0100072 Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022348 human_phenotype HP:0100073 Pseudoepiphyses of the 4th toe HP:0100073 2010-06-24T09:59:30Z UMLS:C4022347 Small end part of the 4th toe bone human_phenotype HP:0100074 Small epiphyses of the 4th toe HP:0100074 Small end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. 2010-06-24T09:59:30Z UMLS:C4022346 Speckled calcifications in the end part of the 4th toe bone human_phenotype HP:0100075 Stippling of the epiphyses of the 4th toe HP:0100075 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T09:59:30Z UMLS:C4022345 Triangular end part of the 4th toe bone human_phenotype HP:0100076 Triangular epiphyses of the 4th toe HP:0100076 Triangular end part of the 4th toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022344 Absent end part of the little toe bone Absent end part of the pinkie toe bone Absent end part of the pinky toe bone human_phenotype HP:0100077 Absent epiphyses of the 5th toe HP:0100077 Absent end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Absent end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Absent end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022343 Bracket shaped end part of little toe bone Bracket shaped end part of pinkie toe bone Bracket shaped end part of pinky toe bone human_phenotype HP:0100078 Bracket epiphyses of the 5th toe HP:0100078 Bracket shaped end part of little toe bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of pinkie toe bone https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022342 Cone-shaped end part of the little toe bone Cone-shaped end part of the pinkie toe bone Cone-shaped end part of the pinky toe bone human_phenotype HP:0100079 Cone-shaped epiphyses of the 5th toe HP:0100079 Cone-shaped end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022341 Enlarged end part of the little toe bone Enlarged end part of the pinkie toe bone Enlarged end part of the pinky toe bone human_phenotype HP:0100080 Enlarged epiphyses of the 5th toe HP:0100080 Enlarged end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Enlarged end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Enlarged end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022340 Fragmentation of the end part of the little toe bone Fragmentation of the end part of the pinkie toe bone Fragmentation of the end part of the pinky toe bone human_phenotype HP:0100081 Fragmentation of the epiphyses of the 5th toe HP:0100081 Fragmentation of the end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022339 Irregular end part of the little toe bone Irregular end part of the pinkie toe bone Irregular end part of the pinky toe bone human_phenotype HP:0100082 Irregular epiphyses of the 5th toe HP:0100082 Irregular end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Irregular end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Irregular end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. 2010-06-24T10:00:02Z UMLS:C4022338 Increased bone density of end part of the little toe bone Increased bone density of end part of the pinkie toe bone Increased bone density of end part of the pinky toe bone human_phenotype HP:0100083 Ivory epiphyses of the 5th toe HP:0100083 Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. https://orcid.org/0000-0002-0736-9199 Increased bone density of end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022337 human_phenotype HP:0100084 Pseudoepiphyses of the 5th toe HP:0100084 2010-06-24T10:00:02Z UMLS:C4022336 Small end part of the little toe bone Small end part of the pinkie toe bone Small end part of the pinky toe bone human_phenotype HP:0100085 Small epiphyses of the 5th toe HP:0100085 Small end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Small end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Small end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. 2010-06-24T10:00:02Z UMLS:C4022335 Speckled calcifications in the end part of the little toe bone Speckled calcifications in the end part of the pinkie toe bone Speckled calcifications in the end part of the pinky toe bone human_phenotype HP:0100086 Stippling of the epiphyses of the 5th toe HP:0100086 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:00:02Z UMLS:C4022334 Triangular end part of the little toe bone Triangular end part of the pinkie toe bone Triangular end part of the pinky toe bone human_phenotype HP:0100087 Triangular epiphyses of the 5th toe HP:0100087 Triangular end part of the little toe bone https://orcid.org/0000-0001-5208-3432 Triangular end part of the pinkie toe bone https://orcid.org/0000-0001-5208-3432 Triangular end part of the pinky toe bone https://orcid.org/0000-0001-5208-3432 2010-06-24T10:01:42Z UMLS:C4022333 Abnormality of the end part of the outermost bone of the 2nd toe human_phenotype HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toe HP:0100088 Abnormality of the end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:01:42Z UMLS:C4022332 Abnormality of the end part of the middle bone of the 2nd toe human_phenotype HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toe HP:0100089 Abnormality of the end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:01:42Z UMLS:C4022331 Abnormality of the end part of the innermost bone of the 2nd toe human_phenotype HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe HP:0100090 Abnormality of the end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:07Z UMLS:C4022330 Abnormality of the end part of the outermost bone of the 3rd toe human_phenotype HP:0100091 Abnormality of the epiphysis of the distal phalanx of the 3rd toe HP:0100091 Abnormality of the end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:07Z UMLS:C4022329 Abnormality of the end part of the middle bone of the 3rd toe human_phenotype HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toe HP:0100092 Abnormality of the end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:07Z UMLS:C4022328 Abnormality of the end part of the innermost bone of the 3rd toe human_phenotype HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe HP:0100093 Abnormality of the end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:24Z UMLS:C4022327 Abnormality of the end part of the outermost bone of the 4th toe human_phenotype HP:0100094 Abnormality of the epiphysis of the distal phalanx of the 4th toe HP:0100094 Abnormality of the end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:24Z UMLS:C4022326 Abnormality of the end part of the middle bone of the 4th toe human_phenotype HP:0100095 Abnormality of the epiphysis of the middle phalanx of the 4th toe HP:0100095 Abnormality of the end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:24Z UMLS:C4022325 Abnormality of the end part of the innermost bone of the 4th toe human_phenotype HP:0100096 Abnormality of the epiphysis of the proximal phalanx of the 4th toe HP:0100096 Abnormality of the end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:41Z UMLS:C4022324 Abnormality of the end part of the outermost bone of the little toe Abnormality of the end part of the outermost bone of the pinkie toe Abnormality of the end part of the outermost bone of the pinky toe human_phenotype HP:0100097 Abnormality of the epiphysis of the distal phalanx of the 5th toe HP:0100097 Abnormality of the end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:41Z UMLS:C4022323 Abnormality of the end part of the middle bone of the little toe Abnormality of the end part of the middle bone of the pinkie toe Abnormality of the end part of the middle bone of the pinky toe human_phenotype HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toe HP:0100098 Abnormality of the end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:02:41Z UMLS:C4022322 Abnormality of the end part of the innermost bone of the little toe Abnormality of the end part of the innermost bone of the pinkie toe Abnormality of the end part of the innermost bone of the pinky toe human_phenotype HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toe HP:0100099 Abnormality of the end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Abnormality of the end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022321 Absent end part of the outermost bone of the 2nd toe human_phenotype HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toe HP:0100100 Absent end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022320 Bracket shaped end part of the outermost bone of the 2nd toe human_phenotype HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toe HP:0100101 Bracket shaped end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022319 Cone-shaped end part of the outermost bone of the 2nd toe human_phenotype HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toe HP:0100102 Cone-shaped end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022318 Enlarged end part of the outermost bone of the 2nd toe human_phenotype HP:0100103 Enlarged epiphysis of the distal phalanx of the 2nd toe HP:0100103 Enlarged end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022317 Fragmentation of the end part of the outermost bone of the 2nd toe human_phenotype HP:0100104 Fragmentation of the epiphysis of the distal phalanx of the 2nd toe HP:0100104 Fragmentation of the end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022316 Irregular end part of the outermost bone of the 2nd toe human_phenotype HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toe HP:0100105 Irregular end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022315 Increased bone density of end part of the outermost bone of the 2nd toe human_phenotype HP:0100106 Ivory epiphysis of the distal phalanx of the 2nd toe HP:0100106 Increased bone density of end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022314 human_phenotype HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toe HP:0100107 2010-06-24T10:04:20Z UMLS:C4022313 Small end part of the outermost bone of the 2nd toe human_phenotype HP:0100108 Small epiphysis of the distal phalanx of the 2nd toe HP:0100108 Small end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. 2010-06-24T10:04:20Z UMLS:C4022312 Speckled calcifications in the end part of the outermost bone of the 2nd toe human_phenotype HP:0100109 Stippling of the epiphysis of the distal phalanx of the 2nd toe HP:0100109 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:04:20Z UMLS:C4022311 Triangular end part of the outermost bone of the 2nd toe human_phenotype HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toe HP:0100110 Triangular end part of the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022310 Absent end part of the middle bone of the 2nd toe human_phenotype HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toe HP:0100111 Absent end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022309 Bracket shaped end part of the middle bone of the 2nd toe human_phenotype HP:0100112 Bracket epiphysis of the middle phalanx of the 2nd toe HP:0100112 Bracket shaped end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022308 Cone-shaped end part of the middle bone of the 2nd toe human_phenotype HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toe HP:0100113 Cone-shaped end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022307 Enlarged end part of the middle bone of the 2nd toe human_phenotype HP:0100114 Enlarged epiphysis of the middle phalanx of the 2nd toe HP:0100114 Enlarged end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022306 Fragmentation of the end part of the middle bone of the 2nd toe human_phenotype HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe HP:0100115 Fragmentation of the end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022305 Irregular end part of the middle bone of the 2nd toe human_phenotype HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toe HP:0100116 Irregular end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022304 Increased bone density of end part of the middle bone of the 2nd toe human_phenotype HP:0100117 Ivory epiphysis of the middle phalanx of the 2nd toe HP:0100117 Increased bone density of end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe. 2010-06-24T10:05:37Z UMLS:C4022303 human_phenotype HP:0100118 Pseudoepiphysis of the middle phalanx of the 2nd toe HP:0100118 2010-06-24T10:05:37Z UMLS:C4022302 Small end part of the middle bone of the 2nd toe human_phenotype HP:0100119 Small epiphysis of the middle phalanx of the 2nd toe HP:0100119 Small end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. 2010-06-24T10:05:37Z UMLS:C4022301 Speckled calcifications in of the end part of the middle bone of the 2nd toe human_phenotype HP:0100120 Stippling of the epiphysis of the middle phalanx of the 2nd toe HP:0100120 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in of the end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:05:37Z UMLS:C4022300 Triangular end part of the middle bone of the 2nd toe human_phenotype HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toe HP:0100121 Triangular end part of the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022299 Absent end part of the innermost bone of the 2nd toe human_phenotype HP:0100122 Absent epiphysis of the proximal phalanx of the 2nd toe HP:0100122 Absent end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022298 Bracket shaped end part of the innermost bone of the 2nd toe human_phenotype HP:0100123 Bracket epiphysis of the proximal phalanx of the 2nd toe HP:0100123 Bracket shaped end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022297 Cone-shaped end part of the innermost bone of the 2nd toe human_phenotype HP:0100124 Cone-shaped epiphysis of the proximal phalanx of the 2nd toe HP:0100124 Cone-shaped end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022296 Enlarged end part of the innermost bone of the 2nd toe human_phenotype HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toe HP:0100125 Enlarged end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022295 Fragmentation of the end part of the innermost bone of the 2nd toe human_phenotype HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe HP:0100126 Fragmentation of the end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022294 Irregular end part of the innermost bone of the 2nd toe human_phenotype HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toe HP:0100127 Irregular end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022293 Increased bone density of end part of the innermost bone of the 2nd toe human_phenotype HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toe HP:0100128 Increased bone density of end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe. 2010-06-24T10:06:29Z UMLS:C4022292 human_phenotype HP:0100129 Pseudoepiphysis of the proximal phalanx of the 2nd toe HP:0100129 2010-06-24T10:06:29Z UMLS:C4022291 Small end part of the innermost bone of the 2nd toe human_phenotype HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toe HP:0100130 Small end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. 2010-06-24T10:06:29Z UMLS:C4022290 Speckled calcifications in the end part of the innermost bone of the 2nd toe human_phenotype HP:0100131 Stippling of the epiphysis of the proximal phalanx of the 2nd toe HP:0100131 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:06:29Z UMLS:C4022289 Triangular end part of the innermost bone of the 2nd toe human_phenotype HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toe HP:0100132 Triangular end part of the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. 2010-06-24T10:15:30Z UMLS:C4022288 Abnormality of the pubic hair human_phenotype HP:0100133 Abnormality of the pubic hair HP:0100133 Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty. https://orcid.org/0009-0006-4530-3154 Abnormality of the pubic hair Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. 2010-06-24T10:17:00Z UMLS:C4022287 human_phenotype HP:0100134 Abnormality of the axillary hair HP:0100134 Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty. https://orcid.org/0009-0006-4530-3154 2010-06-24T10:23:44Z UMLS:C4022286 Absent end part of the outermost bone of the 3rd toe human_phenotype HP:0100135 Absent epiphysis of the distal phalanx of the 3rd toe HP:0100135 Absent end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022285 Bracket shaped end part of the outermost bone of the 3rd toe human_phenotype HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toe HP:0100136 Bracket shaped end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022284 Cone-shaped end part of the outermost bone of the 3rd toe human_phenotype HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toe HP:0100137 Cone-shaped end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022283 Enlarged end part of the outermost bone of the 3rd toe human_phenotype HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toe HP:0100138 Enlarged end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022282 Fragmentation of the end part of the outermost bone of the 3rd toe human_phenotype HP:0100139 Fragmentation of the epiphysis of the distal phalanx of the 3rd toe HP:0100139 Fragmentation of the end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022281 Irregular end part of the outermost bone of the 3rd toe human_phenotype HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toe HP:0100140 Irregular end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022280 Increased bone density of end part of the outermost bone of the 3rd toe human_phenotype HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toe HP:0100141 Increased bone density of end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022279 human_phenotype HP:0100142 Pseudoepiphysis of the distal phalanx of the 3rd toe HP:0100142 2010-06-24T10:23:44Z UMLS:C4022278 Small end part of the outermost bone of the 3rd toe human_phenotype HP:0100143 Small epiphysis of the distal phalanx of the 3rd toe HP:0100143 Small end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. 2010-06-24T10:23:44Z UMLS:C4022277 Speckled calcifications in the end part of the outermost bone of the 3rd toe human_phenotype HP:0100144 Stippling of the epiphysis of the distal phalanx of the 3rd toe HP:0100144 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:23:44Z UMLS:C4022276 Triangular end part of the outermost bone of the 3rd toe human_phenotype HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toe HP:0100145 Triangular end part of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022275 Absent end part of the middle bone of the 3rd toe human_phenotype HP:0100146 Absent epiphysis of the middle phalanx of the 3rd toe HP:0100146 Absent end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022274 Bracket shaped end part of the middle bone of 3rd toe human_phenotype HP:0100147 Bracket epiphysis of the middle phalanx of the 3rd toe HP:0100147 Bracket shaped end part of the middle bone of 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022273 Cone-shaped end part of the middle bone of the 3rd toe human_phenotype HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toe HP:0100148 Cone-shaped end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022272 Enlarged end part of the middle bone of the 3rd toe human_phenotype HP:0100149 Enlarged epiphysis of the middle phalanx of the 3rd toe HP:0100149 Enlarged end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022271 Fragmentation of the end part of the middle bone of the 3rd toe human_phenotype HP:0100150 Fragmentation of the epiphysis of the middle phalanx of the 3rd toe HP:0100150 Fragmentation of the end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022270 Irregular end part of the middle bone of the 3rd toe human_phenotype HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toe HP:0100151 Irregular end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022269 Increased bone density of end part of the middle bone of the 3rd toe human_phenotype HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toe HP:0100152 Increased bone density of end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022268 human_phenotype HP:0100153 Pseudoepiphysis of the middle phalanx of the 3rd toe HP:0100153 2010-06-24T10:24:13Z UMLS:C4022267 Small end part of the middle bone of the 3rd toe human_phenotype HP:0100154 Small epiphysis of the middle phalanx of the 3rd toe HP:0100154 Small end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. 2010-06-24T10:24:13Z UMLS:C4022266 Speckled calcifications in the end part of the middle bone of the 3rd toe human_phenotype HP:0100155 Stippling of the epiphysis of the middle phalanx of the 3rd toe HP:0100155 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:13Z UMLS:C4022265 Triangular end part of the middle bone of the 3rd toe human_phenotype HP:0100156 Triangular epiphysis of the middle phalanx of the 3rd toe HP:0100156 Triangular end part of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022264 Absent end part of the innermost bone of the 3rd toe human_phenotype HP:0100157 Absent epiphysis of the proximal phalanx of the 3rd toe HP:0100157 Absent end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022263 Bracket shaped end part of the innermost bone of 3rd toe human_phenotype HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toe HP:0100158 Bracket shaped end part of the innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022262 Cone-shaped end part of the innermost bone of the 3rd toe human_phenotype HP:0100159 Cone-shaped epiphysis of the proximal phalanx of the 3rd toe HP:0100159 Cone-shaped end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022261 Enlarged end part of the innermost bone of the 3rd toe human_phenotype HP:0100160 Enlarged epiphysis of the proximal phalanx of the 3rd toe HP:0100160 Enlarged end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022260 Fragmentation of the end part of the innermost bone of the 3rd toe human_phenotype HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe HP:0100161 Fragmentation of the end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022259 Irregular end part of the innermost bone of the 3rd toe human_phenotype HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toe HP:0100162 Irregular end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022258 Increased bone density of end part of the innermost bone of the 3rd toe human_phenotype HP:0100163 Ivory epiphysis of the proximal phalanx of the 3rd toe HP:0100163 Increased bone density of end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe. 2010-06-24T10:24:45Z UMLS:C4022257 human_phenotype HP:0100164 Pseudoepiphysis of the proximal phalanx of the 3rd toe HP:0100164 2010-06-24T10:24:45Z UMLS:C4022256 Small end part of the innermost bone of the 3rd toe human_phenotype HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toe HP:0100165 Small end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. 2010-06-24T10:24:45Z UMLS:C4022255 Speckled calcifications in of the end part of the innermost bone of the 3rd toe human_phenotype HP:0100166 Stippling of the epiphysis of the proximal phalanx of the 3rd toe HP:0100166 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in of the end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 2010-06-24T10:24:45Z UMLS:C4022254 Triangular end part of the innermost bone of the 3rd toe human_phenotype HP:0100167 Triangular epiphysis of the proximal phalanx of the 3rd toe HP:0100167 Triangular end part of the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Fragmented appearance of the epiphyses. 2010-06-24T11:07:51Z UMLS:C4022253 Fragmented end part of bone human_phenotype HP:0100168 Fragmented epiphyses HP:0100168 Fragmented appearance of the epiphyses. https://orcid.org/0009-0006-4530-3154 Fragmented end part of bone https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022252 Absent end part of the outermost bone of the 4th toe human_phenotype HP:0100169 Absent epiphysis of the distal phalanx of the 4th toe HP:0100169 Absent end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022251 Bracket shaped end part of the outermost bone of the 4th toe human_phenotype HP:0100170 Bracket epiphysis of the distal phalanx of the 4th toe HP:0100170 Bracket shaped end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022250 Cone-shaped end part of the outermost bone of the 4th toe human_phenotype HP:0100171 Cone-shaped epiphysis of the distal phalanx of the 4th toe HP:0100171 Cone-shaped end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022249 Enlarged end part of the outermost bone of the 4th toe human_phenotype HP:0100172 Enlarged epiphysis of the distal phalanx of the 4th toe HP:0100172 Enlarged end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022248 Fragmentation of the end part of the outermost bone of the 4th toe human_phenotype HP:0100173 Fragmentation of the epiphysis of the distal phalanx of the 4th toe HP:0100173 Fragmentation of the end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022247 Irregular end part of the outermost bone of the 4th toe human_phenotype HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toe HP:0100174 Irregular end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022246 Increased bone density of end part of the outermost bone of the 4th toe human_phenotype HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toe HP:0100175 Increased bone density of end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022245 human_phenotype HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toe HP:0100176 2010-06-24T04:53:36Z UMLS:C4022244 Small end part of the outermost bone of the 4th toe human_phenotype HP:0100177 Small epiphysis of the distal phalanx of the 4th toe HP:0100177 Small end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. 2010-06-24T04:53:36Z UMLS:C4022243 Speckled calcifications in the end part of the outermost bone of the 4th toe human_phenotype HP:0100178 Stippling of the epiphysis of the distal phalanx of the 4th toe HP:0100178 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:53:36Z UMLS:C4022242 Triangular end part of the outermost bone of the 4th toe human_phenotype HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toe HP:0100179 Triangular end part of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022241 Absent end part of the middle bone of the 4th toe human_phenotype HP:0100180 Absent epiphysis of the middle phalanx of the 4th toe HP:0100180 Absent end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022240 Bracket shaped end part of the middle bone of the 4th toe human_phenotype HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toe HP:0100181 Bracket shaped end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022239 Cone-shaped end part of the middle bone of the 4th toe human_phenotype HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toe HP:0100182 Cone-shaped end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022238 Enlarged end part of the middle bone of the 4th toe human_phenotype HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toe HP:0100183 Enlarged end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022237 Fragmentation of the end part of the middle bone of the 4th toe human_phenotype HP:0100184 Fragmentation of the epiphysis of the middle phalanx of the 4th toe HP:0100184 Fragmentation of the end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022236 Irregular end part of the middle bone of the 4th toe human_phenotype HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe HP:0100185 Irregular end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022235 Increased bone density of end part of the middle bone of the 4th toe human_phenotype HP:0100186 Ivory epiphysis of the middle phalanx of the 4th toe HP:0100186 Increased bone density of end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe. 2010-06-24T04:54:13Z UMLS:C4022234 human_phenotype HP:0100187 Pseudoepiphysis of the middle phalanx of the 4th toe HP:0100187 2010-06-24T04:54:13Z UMLS:C4022233 Small end part of middle long bone of 4th toe human_phenotype HP:0100188 Small epiphysis of the middle phalanx of the 4th toe HP:0100188 Small end part of middle long bone of 4th toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. 2010-06-24T04:54:13Z UMLS:C4022232 Speckled calcifications in the end part of the middle bone of the 4th toe human_phenotype HP:0100189 Stippling of the epiphysis of the middle phalanx of the 4th toe HP:0100189 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:13Z UMLS:C4022231 Triangular end part of the middle bone of the 4th toe human_phenotype HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toe HP:0100190 Triangular end part of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022230 Absent end part of the innermost bone of the 4th toe human_phenotype HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toe HP:0100191 Absent end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022229 Bracket shaped end part of the innermost bone of 4th toe human_phenotype HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toe HP:0100192 Bracket shaped end part of the innermost bone of 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022228 Cone-shaped end part of the innermost bone of the 4th toe human_phenotype HP:0100193 Cone-shaped epiphysis of the proximal phalanx of the 4th toe HP:0100193 Cone-shaped end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022227 Enlarged end part of the innermost bone of the 4th toe human_phenotype HP:0100194 Enlarged epiphysis of the proximal phalanx of the 4th toe HP:0100194 Enlarged end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022226 Fragmentation of the end part of the innermost bone of the 4th toe human_phenotype HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe HP:0100195 Fragmentation of the end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022225 Irregular end part of the innermost bone of the 4th toe human_phenotype HP:0100196 Irregular epiphysis of the proximal phalanx of the 4th toe HP:0100196 Irregular end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022224 Increased bone density of end part of the innermost bone of the 4th toe human_phenotype HP:0100197 Ivory epiphysis of the proximal phalanx of the 4th toe HP:0100197 Increased bone density of end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe. 2010-06-24T04:54:59Z UMLS:C4022223 human_phenotype HP:0100198 Pseudoepiphysis of the proximal phalanx of the 4th toe HP:0100198 2010-06-24T04:54:59Z UMLS:C4022222 Small end part of the innermost bone of the 4th toe human_phenotype HP:0100199 Small epiphysis of the proximal phalanx of the 4th toe HP:0100199 Small end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. 2010-06-24T04:54:59Z UMLS:C4022221 Speckled calcifications in the end part of the innermost bone of the 4th toe human_phenotype HP:0100200 Stippling of the epiphysis of the proximal phalanx of the 4th toe HP:0100200 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T04:54:59Z UMLS:C4022220 Triangular end part of the innermost bone of the 4th toe human_phenotype HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toe HP:0100201 Triangular end part of the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022219 Absent end part of the outermost bone of the little toe Absent end part of the outermost bone of the pinkie toe Absent end part of the outermost bone of the pinky toe human_phenotype HP:0100202 Absent epiphysis of the distal phalanx of the 5th toe HP:0100202 Absent end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Absent end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022218 Bracket shaped end part of the outermost bone of the little toe Bracket shaped end part of the outermost bone of the pinkie toe Bracket shaped end part of the outermost bone of the pinky toe human_phenotype HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toe HP:0100203 Bracket shaped end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022217 Cone-shaped end part of the outermost bone of the little toe Cone-shaped end part of the outermost bone of the pinkie toe Cone-shaped end part of the outermost bone of the pinky toe human_phenotype HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toe HP:0100204 Cone-shaped end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022216 Enlarged end part of the outermost bone of the little toe Enlarged end part of the outermost bone of the pinkie toe Enlarged end part of the outermost bone of the pinky toe human_phenotype HP:0100205 Enlarged epiphysis of the distal phalanx of the 5th toe HP:0100205 Enlarged end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022215 Fragmentation of the end part of the outermost bone of the little toe Fragmentation of the end part of the outermost bone of the pinkie toe Fragmentation of the end part of the outermost bone of the pinky toe human_phenotype HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toe HP:0100206 Fragmentation of the end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022214 Irregular end part of the outermost bone of the little toe Irregular end part of the outermost bone of the pinkie toe Irregular end part of the outermost bone of the pinky toe human_phenotype HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toe HP:0100207 Irregular end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022213 Increased bone density of end part of the outermost bone of the little toe Increased bone density of end part of the outermost bone of the pinkie toe Increased bone density of end part of the outermost bone of the pinky toe human_phenotype HP:0100208 Ivory epiphysis of the distal phalanx of the 5th toe HP:0100208 Increased bone density of end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022212 human_phenotype HP:0100209 Pseudoepiphysis of the distal phalanx of the 5th toe HP:0100209 2010-06-24T05:03:31Z UMLS:C4022211 Small end part of the outermost bone of the little toe Small end part of the outermost bone of the pinkie toe Small end part of the outermost bone of the pinky toe human_phenotype HP:0100210 Small epiphysis of the distal phalanx of the 5th toe HP:0100210 Small end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Small end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. 2010-06-24T05:03:31Z UMLS:C4022210 Speckled calcifications in the end part of the outermost bone of the little toe Speckled calcifications in the end part of the outermost bone of the pinkie toe Speckled calcifications in the end part of the outermost bone of the pinky toe human_phenotype HP:0100211 Stippling of the epiphysis of the distal phalanx of the 5th toe HP:0100211 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:03:31Z UMLS:C4022209 Triangular end part of the outermost bone of the little toe Triangular end part of the outermost bone of the pinkie toe Triangular end part of the outermost bone of the pinky toe human_phenotype HP:0100212 Triangular epiphysis of the distal phalanx of the 5th toe HP:0100212 Triangular end part of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022208 Absent end part of the middle bone of the little toe Absent end part of the middle bone of the pinkie toe Absent end part of the middle bone of the pinky toe human_phenotype HP:0100213 Absent epiphysis of the middle phalanx of the 5th toe HP:0100213 Absent end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Absent end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Absent end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022207 Bracket shaped end part of the middle bone of the little toe Bracket shaped end part of the middle bone of the pinkie toe Bracket shaped end part of the middle bone of the pinky toe human_phenotype HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toe HP:0100214 Bracket shaped end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022206 Cone-shaped end part of the middle bone of the little toe Cone-shaped end part of the middle bone of the pinkie toe Cone-shaped end part of the middle bone of the pinky toe human_phenotype HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toe HP:0100215 Cone-shaped end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022205 Enlarged end part of the middle bone of the little toe Enlarged end part of the middle bone of the pinkie toe Enlarged end part of the middle bone of the pinky toe human_phenotype HP:0100216 Enlarged epiphysis of the middle phalanx of the 5th toe HP:0100216 Enlarged end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022204 Fragmentation of the end part of the middle bone of the little toe Fragmentation of the end part of the middle bone of the pinkie toe Fragmentation of the end part of the middle bone of the pinky toe human_phenotype HP:0100217 Fragmentation of the epiphysis of the middle phalanx of the 5th toe HP:0100217 Fragmentation of the end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022203 Irregular end part of the middle bone of the little toe Irregular end part of the middle bone of the pinkie toe Irregular end part of the middle bone of the pinky toe human_phenotype HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toe HP:0100218 Irregular end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022202 Increased bone density of end part of the middle bone of the little toe Increased bone density of end part of the middle bone of the pinkie toe Increased bone density of end part of the middle bone of the pinky toe human_phenotype HP:0100219 Ivory epiphysis of the middle phalanx of the 5th toe HP:0100219 Increased bone density of end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe. 2010-06-24T05:04:00Z UMLS:C4022201 human_phenotype HP:0100220 Pseudoepiphysis of the middle phalanx of the 5th toe HP:0100220 2010-06-24T05:04:00Z UMLS:C4022200 Small end part of the middle bone of the little toe Small end part of the middle bone of the pinkie toe Small end part of the middle bone of the pinky toe human_phenotype HP:0100221 Small epiphysis of the middle phalanx of the 5th toe HP:0100221 Small end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Small end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Small end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. 2010-06-24T05:04:00Z UMLS:C4022199 Speckled calcifications in end part of the innermost bone of the pinkie toe Speckled calcifications in middle part of the innermost bone of the little toe Speckled calcifications in middle part of the innermost bone of the pinky toe human_phenotype HP:0100222 Stippling of the epiphysis of the middle phalanx of the 5th toe HP:0100222 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in middle part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in middle part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:00Z UMLS:C4022198 Triangular end part of the middle bone of the little toe Triangular end part of the middle bone of the pinkie toe Triangular end part of the middle bone of the pinky toe human_phenotype HP:0100223 Triangular epiphysis of the middle phalanx of the 5th toe HP:0100223 Triangular end part of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022197 Absent end part of the innermost bone of the little toe Absent end part of the innermost bone of the pinkie toe Absent end part of the innermost bone of the pinky toe human_phenotype HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toe HP:0100224 Absent end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Absent end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022196 Bracket shaped end part of the innermost bone of the little toe Bracket shaped end part of the innermost bone of the pinkie toe Bracket shaped end part of the innermost bone of the pinky toe human_phenotype HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toe HP:0100225 Bracket shaped end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bracket shaped end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022195 Cone-shaped end part of the innermost bone of the little toe Cone-shaped end part of the innermost bone of the pinkie toe Cone-shaped end part of the innermost bone of the pinky toe human_phenotype HP:0100226 Cone-shaped epiphysis of the proximal phalanx of the 5th toe HP:0100226 Cone-shaped end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Cone-shaped end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022194 Enlarged end part of the innermost bone of the little toe Enlarged end part of the innermost bone of the pinkie toe Enlarged end part of the innermost bone of the pinky toe human_phenotype HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toe HP:0100227 Enlarged end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Enlarged end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022193 Fragmentation of the end part of the innermost bone of the little toe Fragmentation of the end part of the innermost bone of the pinkie toe Fragmentation of the end part of the innermost bone of the pinky toe human_phenotype HP:0100228 Fragmentation of the epiphysis of the proximal phalanx of the 5th toe HP:0100228 Fragmentation of the end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Fragmentation of the end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022192 Irregular end part of the innermost bone of the little toe Irregular end part of the innermost bone of the pinkie toe Irregular end part of the innermost bone of the pinky toe human_phenotype HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toe HP:0100229 Irregular end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Irregular end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022191 Increased bone density of end part of the innermost bone of the little toe Increased bone density of end part of the innermost bone of the pinkie toe Increased bone density of end part of the innermost bone of the pinky toe human_phenotype HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toe HP:0100230 Increased bone density of end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density of end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe. 2010-06-24T05:04:53Z UMLS:C4022190 human_phenotype HP:0100231 Pseudoepiphysis of the proximal phalanx of the 5th toe HP:0100231 2010-06-24T05:04:53Z UMLS:C4022189 Small end part of the innermost bone of the little toe Small end part of the innermost bone of the pinkie toe Small end part of the innermost bone of the pinky toe human_phenotype HP:0100232 Small epiphysis of the proximal phalanx of the 5th toe HP:0100232 Small end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Small end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. 2010-06-24T05:04:53Z UMLS:C4022188 Speckled calcifications in the end part of the innermost bone of the little toe Speckled calcifications in the end part of the innermost bone of the pinkie toe Speckled calcifications in the end part of the innermost bone of the pinky toe human_phenotype HP:0100233 Stippling of the epiphysis of the proximal phalanx of the 5th toe HP:0100233 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Speckled calcifications in the end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Speckled calcifications in the end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 2010-06-24T05:04:53Z UMLS:C4022187 Triangular end part of the innermost bone of the little toe Triangular end part of the innermost bone of the pinkie toe Triangular end part of the innermost bone of the pinky toe human_phenotype HP:0100234 Triangular epiphysis of the proximal phalanx of the 5th toe HP:0100234 Triangular end part of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Triangular end part of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Any congenital union involving toe phalanges, whether it is end-to-end (symphalangism) or side-to-side (osseous syndactyly). 2010-06-24T05:26:38Z human_phenotype HP:0100235 Toe phalanx synostosis HP:0100235 true HP:0100236 HP:0010200 2010-06-24T05:37:18Z human_phenotype HP:0100237 obsolete Proximal foot symphalangism true HP:0100237 An abnormal union between bones or parts of bones of the upper limbs. 2010-06-24T05:49:08Z UMLS:C4022184 Fusion involving bones of the upper limbs human_phenotype HP:0100238 Synostosis involving bones of the upper limbs HP:0100238 An abnormal union between bones or parts of bones of the upper limbs. https://orcid.org/0009-0006-4530-3154 Fusion involving bones of the upper limbs https://orcid.org/0000-0001-5208-3432 true HP:0100239 The abnormal fusion of neighboring bones across a joint. 2010-06-24T06:04:02Z UMLS:C4022183 Bony ankylosis Fusion of joints human_phenotype HP:0100240 Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces. Synostosis of joints HP:0100240 The abnormal fusion of neighboring bones across a joint. https://orcid.org/0000-0002-0736-9199 Fusion of joints https://orcid.org/0000-0001-5208-3432 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. 2010-06-29T11:18:12Z UMLS:C4022182 human_phenotype HP:0100241 Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. Ectopic respiratory mucosa HP:0100241 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations. https://orcid.org/0009-0006-4530-3154 A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. 2010-07-08T10:43:57Z NCIT:C9118 SNOMEDCT_US:2424003 SNOMEDCT_US:269469005 SNOMEDCT_US:424413001 SNOMEDCT_US:424952003 UMLS:C1261473 Cancer of connective tissue Malignant connective tissue tumor Malignant connective tissue tumour human_phenotype HP:0100242 A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). Sarcoma HP:0100242 A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. https://orcid.org/0009-0006-4530-3154 Cancer of connective tissue Malignant connective tissue tumor https://orcid.org/0000-0002-6548-5200 Malignant connective tissue tumour A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. 2010-07-08T10:49:35Z NCIT:C3158 SNOMEDCT_US:443719001 SNOMEDCT_US:51549004 UMLS:C0023269 human_phenotype HP:0100243 Leiomyosarcoma HP:0100243 A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma. https://orcid.org/0009-0006-4530-3154 A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. 2010-07-08T10:55:40Z NCIT:C6605 SNOMEDCT_US:443250000 SNOMEDCT_US:53654007 UMLS:C0016057 human_phenotype HP:0100244 Fibrosarcoma HP:0100244 A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. https://orcid.org/0009-0006-4530-3154 Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. 2010-07-08T10:57:06Z NCIT:C3042 SNOMEDCT_US:399994005 SNOMEDCT_US:400055004 SNOMEDCT_US:47284001 UMLS:C0079218 Desmoid tumors Desmoid tumours human_phenotype HP:0100245 Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors. Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery. Gastrointestinal desmoid tumor HP:0100245 Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. https://orcid.org/0009-0006-4530-3154 Desmoid tumors Desmoid tumours Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. 2010-07-08T11:38:30Z NCIT:C3296 SNOMEDCT_US:302858007 SNOMEDCT_US:83612000 UMLS:C0029440 human_phenotype HP:0100246 Osteoma HP:0100246 Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. https://orcid.org/0009-0006-4530-3154 A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. 2010-07-08T05:28:00Z SNOMEDCT_US:65958008 UMLS:C0019521 UMLS:C0744897 Recurrent hiccough Recurrent hiccup Recurrent synchronous diaphragmatic flutter human_phenotype Hiccup Hiccups HP:0100247 A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. Recurrent singultus HP:0100247 A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. https://orcid.org/0009-0006-4530-3154 Recurrent hiccup Hiccup Hiccups https://orcid.org/0000-0002-5316-1399 Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. 2010-07-09T12:21:41Z SNOMEDCT_US:66637005 UMLS:C0221169 human_phenotype Ballismus HP:0100248 Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism Hemiballismus HP:0100248 Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. https://orcid.org/0009-0006-4530-3154 Deposition of calcium salts in muscle tissue. 2010-07-09T12:32:25Z SNOMEDCT_US:446993003 UMLS:C2960760 Skeletal muscle calcinosis human_phenotype HP:0100249 Calcification of muscles HP:0100249 Deposition of calcium salts in muscle tissue. https://orcid.org/0000-0002-0736-9199 Calcium deposition affecting the Meninges. 2010-07-14T03:41:34Z UMLS:C4022181 human_phenotype HP:0100250 In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans. Meningeal calcification HP:0100250 Calcium deposition affecting the Meninges. https://orcid.org/0009-0006-4530-3154 The presence of multiple lipomas located in the central nervous system. 2010-07-14T03:55:50Z NCIT:C3192 UMLS:C4022180 Lipomas of the central nervous system human_phenotype HP:0100251 Multiple central nervous system lipomas HP:0100251 The presence of multiple lipomas located in the central nervous system. PMID:26942290 2010-07-14T05:01:38Z SNOMEDCT_US:318761000119105 SNOMEDCT_US:34643004 UMLS:C0011989 human_phenotype HP:0100252 Diaphyseal dysplasia HP:0100252 An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. 2010-07-14T05:09:21Z UMLS:C4021027 Abnormality of the marrow cavity of the long bones human_phenotype HP:0100253 Abnormality of the medullary cavity of the long bones HP:0100253 An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. https://orcid.org/0009-0006-4530-3154 Abnormality of the marrow cavity of the long bones 2010-07-14T05:13:39Z UMLS:C4022179 human_phenotype HP:0100254 Stenosis of the medullary cavity of the long bones HP:0100254 The presence of dysplastic regions in metaphyseal regions. 2010-07-14T05:15:56Z HP:0000948 HP:0005002 HP:0005636 HP:0005704 HP:0005899 HP:0006427 SNOMEDCT_US:27837003 UMLS:C0265294 human_phenotype HP:0100255 Metaphyseal dysplasia HP:0100255 The presence of dysplastic regions in metaphyseal regions. https://orcid.org/0009-0006-4530-3154 Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. 2010-07-15T02:43:44Z SNOMEDCT_US:38551001 UMLS:C0333463 Braindruse Neuritic plaques Senile druse human_phenotype HP:0100256 Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. Senile plaques HP:0100256 Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. https://orcid.org/0009-0006-4530-3154 A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. 2010-07-15T03:56:58Z SNOMEDCT_US:13624003 SNOMEDCT_US:81208006 UMLS:C0265554 Cleft hand Lobster claw hand human_phenotype HP:0100257 Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severely affected family member is seen. Ectrodactyly HP:0100257 A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. https://orcid.org/0009-0006-4530-3154 Cleft hand https://orcid.org/0000-0001-6908-9849 Lobster claw hand https://orcid.org/0000-0001-6908-9849 A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. 2010-07-20T11:00:32Z SNOMEDCT_US:205135003 UMLS:C0345354 Polydactyly, preaxial human_phenotype HP:0100258 Preaxial polydactyly HP:0100258 A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. https://orcid.org/0000-0002-0736-9199 Polydactyly, preaxial https://orcid.org/0000-0002-5316-1399 A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. 2010-07-20T11:00:32Z HP:0005808 UMLS:C0220697 Polydactyly, postaxial Postaxial hexadactyly human_phenotype HP:0100259 Postaxial polydactyly HP:0100259 A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. https://orcid.org/0000-0002-0736-9199 The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. 2010-07-20T11:00:32Z UMLS:C1848595 UMLS:C4020689 Central polydactyly Intercalary polydactyly human_phenotype Insertional polydactyly HP:0100260 Mesoaxial polydactyly HP:0100260 The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. PMID:19125433 An abnormality of the structure or form of the tendons, also often called sinews. 2010-07-20T01:20:19Z UMLS:C4021026 Abnormal shape of tendon Abnormality of the sinew human_phenotype HP:0100261 A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. Abnormal tendon morphology HP:0100261 An abnormality of the structure or form of the tendons, also often called sinews. https://orcid.org/0009-0006-4530-3154 Abnormal shape of tendon https://orcid.org/0000-0001-5208-3432 2010-07-20T02:58:46Z UMLS:C4022178 Fusion involving digits human_phenotype HP:0100262 Synostosis involving digits HP:0100262 Fusion involving digits https://orcid.org/0000-0001-5208-3432 2010-07-20T03:00:19Z UMLS:C1861401 Symphalangism, distal human_phenotype HP:0100263 Distal symphalangism HP:0100263 2010-07-20T03:00:19Z UMLS:C1861385 Cushing's symphalangism human_phenotype HP:0100264 Proximal symphalangism HP:0100264 Cushing's symphalangism https://orcid.org/0000-0001-6908-9849 2010-07-20T03:02:10Z UMLS:C4022177 Fusion of long bones of hand/long bones of foot human_phenotype HP:0100265 Synostosis of metacarpals/metatarsals HP:0100265 Fusion of long bones of hand/long bones of foot https://orcid.org/0000-0001-5208-3432 The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. 2010-07-20T03:02:14Z HP:0005666 HP:0005675 HP:0005823 UMLS:C4021025 Carpal and tarsal fusions Coalescence of carpal and tarsal bones Fusion of carpal and tarsal bones Wrist bone/ankle bone fusions human_phenotype HP:0100266 Synostosis of carpals/tarsals HP:0100266 The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. https://orcid.org/0009-0006-4530-3154 Wrist bone/ankle bone fusions https://orcid.org/0000-0001-5208-3432 A depression located on a lip. 2010-07-20T04:06:32Z UMLS:C0341059 human_phenotype HP:0100267 Lip pit HP:0100267 A depression located on a lip. https://orcid.org/0000-0002-0736-9199 Depression located on the vermilion of the upper lip, usually paramedian. 2010-07-20T04:06:52Z UMLS:C4022176 human_phenotype HP:0100268 A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). Upper lip pit HP:0100268 Depression located on the vermilion of the upper lip, usually paramedian. https://orcid.org/0009-0006-4530-3154 Depression located paramedially on the vermilion of a lip. 2010-07-20T04:13:41Z UMLS:C4022175 Paramedian labial pits human_phenotype HP:0100269 A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). Paramedian lip pit HP:0100269 Depression located paramedially on the vermilion of a lip. https://orcid.org/0009-0006-4530-3154 Paramedian labial pits https://orcid.org/0000-0001-5889-4463 An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. 2010-07-22T05:02:27Z UMLS:C4022174 human_phenotype HP:0100270 Abnormality of dorsoventral patterning of the limbs HP:0100270 An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs. https://orcid.org/0009-0006-4530-3154 Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. 2010-07-27T09:57:48Z UMLS:C4022173 human_phenotype HP:0100271 Hyponasal speech HP:0100271 Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. https://orcid.org/0009-0006-4530-3154 A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. 2010-07-27T10:10:03Z SNOMEDCT_US:253259008 UMLS:C0266624 Branchial cleft sinus human_phenotype HP:0100272 Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. Branchial sinus HP:0100272 A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal. https://orcid.org/0009-0006-4530-3154 2010-07-28T05:37:31Z NCIT:C3262 SNOMEDCT_US:126838000 UMLS:C0009375 Colon tumor Colon tumour human_phenotype HP:0100273 Neoplasm of the colon HP:0100273 Colon tumor https://orcid.org/0000-0001-6908-9849 Colon tumour Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. 2010-07-29T11:59:06Z UMLS:C1862052 human_phenotype HP:0100274 The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurrences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. Gustatory lacrimation HP:0100274 Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. https://orcid.org/0009-0006-4530-3154 Diffuse unlocalised atrophy affecting the cerebellum. 2010-08-02T01:22:19Z HP:0006928 UMLS:C1854699 human_phenotype HP:0100275 Diffuse cerebellar atrophy HP:0100275 Diffuse unlocalised atrophy affecting the cerebellum. https://orcid.org/0009-0006-4530-3154 A small, skin-lined tract that leads from the surface to deep within the tissues. 2010-08-05T10:51:32Z UMLS:C4020712 UMLS:C4022172 Skin pit human_phenotype Skin pits HP:0100276 Skin pit HP:0100276 Skin pit Skin pits Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. 2010-08-05T10:54:32Z UMLS:C4022171 Periauricular earpits Periauricular fistulas Periauricular pits Periauricular sinus Pits around the ear human_phenotype HP:0100277 Periauricular skin pits HP:0100277 Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. https://orcid.org/0009-0006-4530-3154 Periauricular earpits https://orcid.org/0000-0001-5889-4463 Periauricular fistulas https://orcid.org/0000-0001-5889-4463 Periauricular pits https://orcid.org/0000-0001-5889-4463 Periauricular sinus https://orcid.org/0000-0001-5889-4463 Pits around the ear https://orcid.org/0000-0001-5889-4463 true HP:0100278 A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. 2010-08-10T09:25:44Z SNOMEDCT_US:64766004 UMLS:C0009324 Colitis ulcerosa human_phenotype HP:0100279 Ulcerative colitis HP:0100279 A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. https://orcid.org/0009-0006-4530-3154 A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. 2010-08-10T09:26:05Z SNOMEDCT_US:34000006 UMLS:C0010346 Granulomatous enteritis and colitis Morbus Crohn human_phenotype HP:0100280 Crohn's disease HP:0100280 A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. https://orcid.org/0009-0006-4530-3154 A chronic inflammatory disease of the large intestine (colon, cecum and rectum). 2010-08-10T09:26:33Z SNOMEDCT_US:54597004 UMLS:C0267375 human_phenotype HP:0100281 Chronic colitis HP:0100281 A chronic inflammatory disease of the large intestine (colon, cecum and rectum). https://orcid.org/0009-0006-4530-3154 An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). 2010-08-10T09:26:33Z UMLS:C2118460 human_phenotype HP:0100282 Acute colitis HP:0100282 An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum). https://orcid.org/0009-0006-4530-3154 Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. 2010-08-10T12:59:19Z UMLS:C4022170 human_phenotype HP:0100283 The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest. EMG: continuous motor unit activity at rest HP:0100283 Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles. https://orcid.org/0000-0002-0736-9199 High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. 2010-08-10T01:02:13Z UMLS:C4022169 human_phenotype HP:0100284 EMG: myotonic discharges HP:0100284 High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. https://orcid.org/0000-0002-0736-9199 An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). 2010-08-10T01:02:59Z UMLS:C4022168 human_phenotype HP:0100285 EMG: impaired neuromuscular transmission HP:0100285 An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). https://orcid.org/0000-0002-0736-9199 true HP:0100286 The presence of reduced conduction velocity of motor nerves on electromyography. 2010-08-10T01:11:48Z UMLS:C4022167 human_phenotype HP:0100287 EMG: slow motor conduction HP:0100287 The presence of reduced conduction velocity of motor nerves on electromyography. https://orcid.org/0000-0002-0736-9199 The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. 2010-08-10T01:12:27Z UMLS:C4022166 human_phenotype HP:0100288 EMG: myokymic discharges HP:0100288 The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. https://orcid.org/0000-0002-0736-9199 2010-08-10T01:20:56Z UMLS:C4022165 Abnormality of pattern reversal VEP human_phenotype HP:0100289 Abnormality of pattern reversal visual evoked potentials HP:0100289 2010-08-10T01:31:37Z UMLS:C4022164 human_phenotype HP:0100290 Abnormality of peripheral somatosensory evoked potentials HP:0100290 An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT). 2010-08-10T01:31:37Z UMLS:C4022163 human_phenotype HP:0100291 Delayed somatosensory central conduction time HP:0100291 An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT). PMID:2446842 The presence of amyloid deposition in the nerves of the peripheral nervous system. 2010-08-10T01:46:51Z UMLS:C4022162 human_phenotype HP:0100292 Amyloidosis of peripheral nerves HP:0100292 The presence of amyloid deposition in the nerves of the peripheral nervous system. https://orcid.org/0000-0002-0736-9199 The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies. 2010-08-10T01:57:00Z SNOMEDCT_US:42091004 UMLS:C0333759 Muscle fiber hypertrophy Muscle fibre hypertrophy human_phenotype HP:0100293 Muscle hypertrophy can be assessed at the whole-muscle level (macroscopic methods) or the muscle fiber level (microscopic methods). This term refers to hypertrophy assessed at the microscopic level. Hypertrophied muscle fibers HP:0100293 Muscle fibre hypertrophy true HP:0100294 2010-08-10T01:58:24Z HP:0100294 SNOMEDCT_US:67867005 UMLS:C0333751 Muscle fiber atrophy Muscle fiber degeneration Muscle fibre degeneration human_phenotype HP:0100295 Muscle fiber atrophy HP:0100295 Muscle fiber degeneration https://orcid.org/0000-0001-5208-3432 Muscle fibre degeneration 2010-08-10T01:59:54Z SNOMEDCT_US:87196003 UMLS:C0333757 Perifascicular muscle fibre atrophy human_phenotype HP:0100296 Perifascicular muscle fiber atrophy HP:0100296 Perifascicular muscle fibre atrophy An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. 2010-08-10T02:06:32Z UMLS:C4022161 Endomysial fibrosis human_phenotype HP:0100297 Increased endomysial connective tissue HP:0100297 An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. PMID:32508678 2010-08-10T02:19:26Z UMLS:C4022160 Motheaten muscle fibres human_phenotype HP:0100298 Motheaten muscle fibers HP:0100298 Motheaten muscle fibres 2010-08-10T02:21:34Z UMLS:C4022159 Muscle fibre inclusion bodies human_phenotype HP:0100299 This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. Muscle fiber inclusion bodies HP:0100299 Muscle fibre inclusion bodies 2010-08-10T02:28:49Z UMLS:C4022158 human_phenotype HP:0100300 Desmin bodies HP:0100300 Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. 2010-08-10T02:31:27Z UMLS:C4021024 Muscle fiber tubular aggregates Muscle fibre tubular aggregates Muscle fibre tubular inclusions human_phenotype HP:0100301 Muscle fiber tubular inclusions HP:0100301 Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. PMID:15113116 https://orcid.org/0009-0006-4530-3154 Muscle fibre tubular aggregates Muscle fibre tubular inclusions 2010-08-10T02:36:48Z UMLS:C4021023 Muscle fiber tubuloreticular aggregates Muscle fibre tubuloreticular aggregates Muscle fibre tubuloreticular inclusions human_phenotype HP:0100302 Muscle fiber tubuloreticular inclusions HP:0100302 Muscle fibre tubuloreticular aggregates Muscle fibre tubuloreticular inclusions The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. 2010-08-10T02:39:22Z HP:0003790 UMLS:C4022157 Muscle fiber cytoplasmic bodies Muscle fibre cytoplasmatic inclusion bodies Muscle fibre cytoplasmic bodies human_phenotype HP:0100303 Muscle fiber cytoplasmatic inclusion bodies HP:0100303 The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. https://orcid.org/0000-0002-0736-9199 Muscle fiber cytoplasmic bodies http://neuromuscular.wustl.edu/pathol/cytobod.htm Muscle fibre cytoplasmatic inclusion bodies Muscle fibre cytoplasmic bodies The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. 2010-08-10T02:39:22Z UMLS:C4022156 Muscle fibre intranuclear inclusion bodies human_phenotype HP:0100304 Muscle fiber intranuclear inclusion bodies HP:0100304 The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. https://orcid.org/0000-0002-0736-9199 Muscle fibre intranuclear inclusion bodies Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. 2010-08-10T02:41:11Z SNOMEDCT_US:47913008 UMLS:C0333770 Ring fibres human_phenotype HP:0100305 Ring fibers HP:0100305 Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation. https://orcid.org/0009-0006-4530-3154 Ring fibres Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria. 2010-08-10T02:49:13Z UMLS:C4022155 Muscle fibre hyaline bodies human_phenotype HP:0100306 Muscle fiber hyaline bodies HP:0100306 Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria. PMID:16018165 Muscle fibre hyaline bodies 2010-08-10T02:51:21Z UMLS:C4022154 human_phenotype HP:0100307 Cerebellar hemisphere hypoplasia HP:0100307 Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. 2010-08-10T02:52:37Z UMLS:C4022153 human_phenotype HP:0100308 Cerebral cortical hemiatrophy HP:0100308 Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. https://orcid.org/0000-0002-0736-9199 Hemorrhage occurring between the dura mater and the arachnoid mater. 2010-08-10T03:01:08Z SNOMEDCT_US:35486000 SNOMEDCT_US:95453001 UMLS:C0018946 Subdural haematoma Subdural haemorrhage Subdural hematoma human_phenotype HP:0100309 Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. Subdural hemorrhage HP:0100309 Hemorrhage occurring between the dura mater and the arachnoid mater. https://orcid.org/0009-0006-4530-3154 Subdural haemorrhage Hemorrhage occurring between the dura mater and the skull. 2010-08-10T03:05:35Z SNOMEDCT_US:428268007 SNOMEDCT_US:82999001 UMLS:C0238154 Epidural haematoma Epidural haemorrhage Epidural hematoma Extradural haematoma Extradural hematoma human_phenotype HP:0100310 Intracranial bleeding occurring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column. Epidural hemorrhage HP:0100310 Hemorrhage occurring between the dura mater and the skull. https://orcid.org/0009-0006-4530-3154 Epidural haemorrhage Bands of scar-like tissue that have formed within a cerebral ventricle. 2010-08-10T03:10:06Z UMLS:C4022152 human_phenotype HP:0100311 Cerebral ventricular adhesions HP:0100311 The presence of a germ cell tumor of the cerebrum. 2010-08-10T03:17:16Z NCIT:C3708 UMLS:C4022151 human_phenotype HP:0100312 Cerebral germinoma HP:0100312 The presence of a germ cell tumor of the cerebrum. https://orcid.org/0000-0002-0736-9199 Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. 2010-08-10T03:19:05Z UMLS:C4022150 human_phenotype HP:0100313 A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). Cerebral granulomatosis HP:0100313 Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. PMID:937513 https://orcid.org/0000-0002-0736-9199 Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. 2010-08-10T03:31:18Z UMLS:C4022149 human_phenotype HP:0100314 Inclusion bodies are usually derived from proteins. Cerebral inclusion bodies HP:0100314 Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. https://orcid.org/0000-0002-0736-9199 2010-08-10T03:32:14Z SNOMEDCT_US:312991009 SNOMEDCT_US:43127003 SNOMEDCT_US:80098002 UMLS:C0085200 UMLS:C0752347 human_phenotype Lewy body disease HP:0100315 Lewy bodies HP:0100315 Intracellular aggregates of actin and actin-associated proteins within nerve cells. 2010-08-10T03:32:38Z SNOMEDCT_US:57458003 UMLS:C0521178 human_phenotype HP:0100316 Hirano bodies HP:0100316 Intracellular aggregates of actin and actin-associated proteins within nerve cells. https://orcid.org/0000-0002-0736-9199 Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. 2010-08-10T03:35:26Z UMLS:C4021022 Agyrophilic inclusion bodies Pick inclusion bodies human_phenotype HP:0100317 Argyrophilic inclusion bodies HP:0100317 Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue. https://orcid.org/0009-0006-4530-3154 An intraneuronal inclusion body composed of acid mucopolysaccharides. 2010-08-10T03:37:06Z SNOMEDCT_US:87554006 UMLS:C0333749 human_phenotype HP:0100318 Lafora bodies HP:0100318 An intraneuronal inclusion body composed of acid mucopolysaccharides. https://orcid.org/0009-0006-4530-3154 Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. 2010-08-10T03:39:19Z UMLS:C4021021 Cerebral colloid bodies human_phenotype HP:0100319 Cerebral hyaline bodies HP:0100319 Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance. https://orcid.org/0009-0006-4530-3154 Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. 2010-08-10T03:46:31Z SNOMEDCT_US:84605001 UMLS:C0333731 Rosenthal fibres human_phenotype HP:0100320 Rosenthal fibers HP:0100320 Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders. https://orcid.org/0009-0006-4530-3154 Rosenthal fibres An abnormality of the dentate nucleus. 2010-08-10T03:56:48Z UMLS:C4022148 Abnormality of the dentate nucleus human_phenotype HP:0100321 Abnormal dentate nucleus morphology HP:0100321 An abnormality of the dentate nucleus. https://orcid.org/0000-0002-0736-9199 2010-08-10T04:00:24Z UMLS:C4022147 Absent pyramidal tract human_phenotype HP:0100322 Aplasia of the pyramidal tract HP:0100322 Absent pyramidal tract https://orcid.org/0000-0001-5208-3432 Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. 2010-08-10T04:02:42Z UMLS:C4020710 UMLS:C4022146 human_phenotype Aseptic epiphyseal necrosis HP:0100323 Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation. Juvenile aseptic necrosis HP:0100323 Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers. https://orcid.org/0009-0006-4530-3154 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. 2010-08-10T04:14:42Z HP:0001594 HP:0007426 SNOMEDCT_US:403524003 SNOMEDCT_US:89155008 UMLS:C0011644 UMLS:C1274865 Progressive systemic scleroderma Pseudoscleroderma human_phenotype HP:0100324 A chronic autoimmune phenomenon characterised by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as mixed connective tissue disease and systemic sclerosis. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. Scleroderma HP:0100324 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. https://orcid.org/0009-0006-4530-3154 true HP:0100325 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. 2010-09-16T06:00:43Z UMLS:C0237653 human_phenotype HP:0100326 Immunologic hypersensitivity HP:0100326 Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens. https://www.st-andrews.ac.uk/~gdk/bl4217web/Gp3%20Ref%20list/hypersensitivity%20printed.pdf Hypersensitivity in form of an adverse immune reaction against cow milk protein. 2010-09-16T06:03:58Z SNOMEDCT_US:15911003 UMLS:C0266815 Cow milk allergy IgE-mediated cow milk allergy Immunoglobulin E-mediated cow milk allergy Milk allergy human_phenotype HP:0100327 Cow milk allergy HP:0100327 Hypersensitivity in form of an adverse immune reaction against cow milk protein. https://orcid.org/0009-0006-4530-3154 Cow milk allergy Milk allergy https://orcid.org/0000-0001-6908-9849 Fusion involving carpal and metacarpal bones. 2010-10-08T03:52:00Z UMLS:C4022145 Fused wrist bones and long bones of hand human_phenotype HP:0100328 Carpometacarpal synostosis HP:0100328 Fusion involving carpal and metacarpal bones. https://orcid.org/0000-0002-0736-9199 Fused wrist bones and long bones of hand https://orcid.org/0000-0001-5208-3432 2010-10-08T03:53:06Z UMLS:C4022144 Fused bones of the midfoot human_phenotype HP:0100329 Tarsometatarsal synostosis HP:0100329 Fused bones of the midfoot https://orcid.org/0000-0001-6908-9849 true HP:0100330 true HP:0100331 true HP:0100332 A non-midline cleft of the upper lip on one side only. 2010-10-13T04:11:32Z HP:0100331 SNOMEDCT_US:304067009 UMLS:C0392006 One sided cleft upper lip Unilateral cheiloschisis Unilateral cleft upper lip human_phenotype HP:0100333 Unilateral cleft lip HP:0100333 A non-midline cleft of the upper lip on one side only. https://orcid.org/0000-0002-0736-9199 One sided cleft upper lip https://orcid.org/0000-0001-5889-4463 Unilateral cheiloschisis https://orcid.org/0000-0001-5889-4463 Unilateral cleft upper lip https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 2010-10-13T04:16:12Z UMLS:C4022143 One sided cleft palate Unilateral palatoschisis human_phenotype HP:0100334 Unilateral cleft palate HP:0100334 One sided cleft palate https://orcid.org/0000-0001-5889-4463 Unilateral palatoschisis https://orcid.org/0000-0001-5889-4463 Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. 2010-10-13T04:12:24Z HP:0010283 HP:0100332 UMLS:C4021020 Non-midline cleft of the upper lip Paramedian cleft of the upper lip human_phenotype HP:0100335 Non-midline cleft of the upper lip HP:0100335 Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. https://orcid.org/0000-0002-0736-9199 A non-midline cleft of the upper lip on the left and right sides. 2010-10-13T04:13:10Z SNOMEDCT_US:304068004 UMLS:C0392005 Bilateral cheiloschisis Both sided cleft lip Right and left cleft lip human_phenotype HP:0100336 Bilateral cleft lip HP:0100336 A non-midline cleft of the upper lip on the left and right sides. https://orcid.org/0000-0002-0736-9199 Bilateral cheiloschisis https://orcid.org/0000-0001-5889-4463 Both sided cleft lip https://orcid.org/0000-0001-5889-4463 Right and left cleft lip https://orcid.org/0000-0001-5889-4463 Nonmidline cleft palate on the left and right sides. 2010-10-13T04:16:32Z HP:0002744 UMLS:C3553084 Bilateral palatoschisis Right and left cleft palate human_phenotype HP:0100337 Bilateral cleft palate HP:0100337 Nonmidline cleft palate on the left and right sides. https://orcid.org/0000-0002-0736-9199 Bilateral palatoschisis https://orcid.org/0000-0001-5889-4463 Right and left cleft palate https://orcid.org/0000-0001-5889-4463 2010-10-13T04:16:40Z UMLS:C4022142 Paramedian cleft palate human_phenotype HP:0100338 Non-midline cleft palate HP:0100338 Paramedian cleft palate https://orcid.org/0000-0001-5889-4463 2010-10-13T04:46:42Z UMLS:C4022141 human_phenotype HP:0100339 Abnormality of the os naviculare pedis HP:0100339 2010-11-11T03:41:54Z UMLS:C4022140 human_phenotype HP:0100340 Fibular deviation of the 4th toe HP:0100340 2010-11-11T03:41:54Z UMLS:C4022139 human_phenotype HP:0100341 Tibial deviation of the 4th toe HP:0100341 2010-11-11T03:43:52Z UMLS:C4022138 human_phenotype HP:0100342 Fibular deviation of the 3rd toe HP:0100342 2010-11-11T03:43:52Z UMLS:C4022137 human_phenotype HP:0100343 Tibial deviation of the 3rd toe HP:0100343 2010-11-11T03:44:07Z UMLS:C4022136 human_phenotype HP:0100344 Fibular deviation of the 2nd toe HP:0100344 2010-11-11T03:44:07Z UMLS:C4022135 human_phenotype HP:0100345 Tibial deviation of the 2nd toe HP:0100345 2010-11-11T03:44:27Z UMLS:C4022134 human_phenotype HP:0100346 Fibular deviation of the 5th toe HP:0100346 2010-11-11T03:44:27Z UMLS:C4022133 human_phenotype HP:0100347 Tibial deviation of the 5th toe HP:0100347 The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. UMLS:C4021019 Camptodactyly of the 2nd toe Camptodactyly of the second toe human_phenotype HP:0100348 Contracture of the proximal interphalangeal joint of the 2nd toe HP:0100348 The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. UMLS:C4021018 Camptodactyly of the 3rd toe human_phenotype HP:0100349 Contracture of the proximal interphalangeal joint of the 3rd toe HP:0100349 The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. HPO_CONTRIBUTOR:UToronto_htrang The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. UMLS:C4021017 Camptodactyly of the 4th toe Camptodactyly of the fourth toe Contracture of the innermost hinge joint of the 4th toe human_phenotype HP:0100350 Contracture of the proximal interphalangeal joint of the 4th toe HP:0100350 The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 Contracture of the innermost hinge joint of the 4th toe https://orcid.org/0000-0001-5208-3432 The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. UMLS:C4021016 Camptodactyly of the 5th toe Camptodactyly of the fifth toe human_phenotype HP:0100351 Contractures of the proximal interphalangeal joint of the 5th toe HP:0100351 The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. UMLS:C4021015 Contracture of the distal interphalangeal joint of the second toe human_phenotype HP:0100352 Contracture of the distal interphalangeal joint of the 2nd toe HP:0100352 The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. UMLS:C4022132 human_phenotype HP:0100353 Contracture of the distal interphalangeal joint of the 3rd toe HP:0100353 The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. UMLS:C4022131 human_phenotype HP:0100354 Contracture of the distal interphalangeal joint of the 4th toe HP:0100354 The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. UMLS:C4022130 Contracture of the outermost hinge joint of the 5th toe human_phenotype HP:0100355 Contractures of the distal interphalangeal joint of the 5th toe HP:0100355 The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 Contracture of the outermost hinge joint of the 5th toe https://orcid.org/0000-0001-6908-9849 The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. UMLS:C4022129 human_phenotype HP:0100356 Contracture of the metatarsophalangeal joint of the 2nd toe HP:0100356 The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. UMLS:C4022128 human_phenotype HP:0100357 Contracture of the metatarsophalangeal joint of the 3rd toe HP:0100357 The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. UMLS:C4022127 human_phenotype HP:0100358 Contracture of the metatarsophalangeal joint of the 4th toe HP:0100358 The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. UMLS:C4022126 human_phenotype HP:0100359 Contracture of the metatarsophalangeal joint of the 5th toe HP:0100359 The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively. https://orcid.org/0000-0002-0736-9199 A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. 2010-11-11T04:18:29Z UMLS:C2750635 Contractures of the joints of the upper limbs human_phenotype HP:0100360 Upper-limb joint contracture HP:0100360 true HP:0100361 UMLS:C4022125 Absent digital bone of the 3rd toe human_phenotype HP:0100362 Aplasia of the phalanges of the 3rd toe HP:0100362 Absent digital bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022124 Absent bones of the 4th toe human_phenotype HP:0100363 Aplasia of the phalanges of the 4th toe HP:0100363 Absent bones of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022123 Absent little toe bones Absent pinkie toe bones Absent pinky toe bones human_phenotype HP:0100364 Aplasia of the phalanges of the 5th toe HP:0100364 Absent little toe bones https://orcid.org/0000-0001-5208-3432 Absent pinkie toe bones https://orcid.org/0000-0001-5208-3432 Absent pinky toe bones https://orcid.org/0000-0001-5208-3432 true HP:0100365 Developmental hypoplasia of the phalanx of third toe. UMLS:C4021014 Hypoplastic/small phalanges of the 3rd toe Short 3rd toe bone Short phalanx of the third toe human_phenotype HP:0100366 Short phalanx of the 3rd toe HP:0100366 Developmental hypoplasia of the phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Short 3rd toe bone https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of one or more phalanx of fourth toe. UMLS:C4021013 Hypoplastic/small phalanges of the 4th toe Short 4th toe bone Short phalanx of the fourth toe human_phenotype HP:0100367 Short phalanx of the 4th toe HP:0100367 Developmental hypoplasia of one or more phalanx of fourth toe. https://orcid.org/0000-0002-0736-9199 Short 4th toe bone https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of one or more phalanx of little toe. UMLS:C4021012 Hypoplastic/small phalanges of the 5th toe Short little toe bone Short phalanx of the fifth toe Short pinkie toe bone Short pinky toe bone human_phenotype HP:0100368 Short phalanx of the 5th toe HP:0100368 Developmental hypoplasia of one or more phalanx of little toe. https://orcid.org/0000-0002-0736-9199 Short little toe bone https://orcid.org/0000-0001-5208-3432 Short pinkie toe bone https://orcid.org/0000-0001-5208-3432 Short pinky toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022122 Absent/small outermost 3rd toe bone Absent/underdeveloped outermost 3rd toe bone human_phenotype HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe HP:0100369 Absent/small outermost 3rd toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost 3rd toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022121 Absent/small outermost bone of 4th toe Absent/underdeveloped outermost bone of 4th toe human_phenotype HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 4th toe HP:0100370 Absent/small outermost bone of 4th toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost bone of 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022120 Absent/small outermost little toe bone Absent/small outermost pinkie toe bone Absent/small outermost pinky toe bone Absent/underdeveloped outermost pinky toe bone human_phenotype HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe HP:0100371 Absent/small outermost little toe bone https://orcid.org/0000-0001-5208-3432 Absent/small outermost pinkie toe bone https://orcid.org/0000-0001-5208-3432 Absent/small outermost pinky toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped outermost pinky toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022119 Absent/small middle 3rd toe bone Absent/underdeveloped middle 3rd toe bone human_phenotype HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe HP:0100372 Absent/small middle 3rd toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle 3rd toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022118 Absent/small middle bone of the 4th toe Absent/underdeveloped middle bone of the 4th toe human_phenotype HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 4th toe HP:0100373 Absent/small middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022117 Absent/small middle 5th toe bone Absent/underdeveloped middle bone of little toe Absent/underdeveloped middle bone of pinkie toe Absent/underdeveloped middle bone of pinky toe human_phenotype HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toe HP:0100374 Absent/small middle 5th toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of little toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped middle bone of pinky toe https://orcid.org/0000-0001-5208-3432 Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. UMLS:C4022116 Absent/small innermost bone of 3rd toe Absent/underdeveloped innermost bone of 3rd toe human_phenotype HP:0100375 Aplasia/hypoplasia of the proximal phalanx of the 3rd toe HP:0100375 Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe. https://orcid.org/0000-0002-0736-9199 Absent/small innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. UMLS:C4022115 Absent/small innermost 4th toe bone Absent/underdeveloped innermost 4th toe bone human_phenotype HP:0100376 Aplasia/hypoplasia of the proximal phalanx of the 4th toe HP:0100376 Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe. https://orcid.org/0000-0002-0736-9199 Absent/small innermost 4th toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost 4th toe bone https://orcid.org/0000-0001-5208-3432 Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. UMLS:C4022114 Absent/small innermost little toe bone Absent/small innermost pinkie toe bone Absent/small innermost pinky toe bone Absent/underdeveloped innermost 5th toe bone human_phenotype HP:0100377 Aplasia/hypoplasia of the proximal phalanx of the 5th toe HP:0100377 Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Absent/small innermost little toe bone https://orcid.org/0000-0001-5208-3432 Absent/small innermost pinkie toe bone https://orcid.org/0000-0001-5208-3432 Absent/small innermost pinky toe bone https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped innermost 5th toe bone https://orcid.org/0000-0001-5208-3432 Developmental aplasia of the distal phalanx of third toe. UMLS:C4021011 Absent distal phalanx of the third toe Absent outermost bone of the 3rd toe Aplasia of the distal phalanx of the 3rd toe human_phenotype HP:0100378 Absent distal phalanx of the 3rd toe HP:0100378 Developmental aplasia of the distal phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Absent outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022113 Absent distal phalanx of the 4th toe Absent outermost bone of the 4th toe human_phenotype HP:0100379 Aplasia of the distal phalanx of the 4th toe HP:0100379 Absent distal phalanx of the 4th toe https://orcid.org/0000-0001-5208-3432 Absent outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022112 Absent outermost bone of the little toe Absent outermost bone of the pinkie toe Absent outermost bone of the pinky toe human_phenotype HP:0100380 Aplasia of the distal phalanx of the 5th toe HP:0100380 Absent outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Absent outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Absent outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Developmental aplasia of the middle phalanx of third toe. UMLS:C4021010 Absent middle bone of the 3rd toe Absent middle phalanx of the third toe Aplasia of the middle phalanx of the 3rd toe human_phenotype HP:0100381 Absent middle phalanx of the 3rd toe HP:0100381 Developmental aplasia of the middle phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Absent middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022111 Absent middle bone of 4th toe human_phenotype HP:0100382 Aplasia of the middle phalanx of the 4th toe HP:0100382 Absent middle bone of 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022110 Absent middle bone of little toe Absent middle bone of pinkie toe Absent middle bone of pinky toe human_phenotype HP:0100383 Aplasia of the middle phalanx of the 5th toe HP:0100383 Absent middle bone of little toe https://orcid.org/0000-0001-5208-3432 Absent middle bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Absent middle bone of pinky toe https://orcid.org/0000-0001-5208-3432 Absence of proximal phalanx of third toe, owing to a congenital defect of development. UMLS:C4021009 Absent innermost bone of the 3rd toe Aplasia of the proximal phalanx of the 3rd toe human_phenotype HP:0100384 Absent proximal phalanx of the 3rd toe HP:0100384 Absence of proximal phalanx of third toe, owing to a congenital defect of development. https://orcid.org/0000-0002-0736-9199 Absent innermost bone of the 3rd toe https://orcid.org/0000-0001-6908-9849 UMLS:C4022109 Absent innermost bone of the 4th toe human_phenotype HP:0100385 Aplasia of the proximal phalanx of the 4th toe HP:0100385 Absent innermost bone of the 4th toe https://orcid.org/0000-0001-6908-9849 UMLS:C4022108 Absent innermost bone of the little toe Absent innermost bone of the pinkie toe Absent innermost bone of the pinky toe human_phenotype HP:0100386 Aplasia of the proximal phalanx of the 5th toe HP:0100386 Absent innermost bone of the little toe https://orcid.org/0000-0001-6908-9849 Absent innermost bone of the pinkie toe https://orcid.org/0000-0001-6908-9849 Absent innermost bone of the pinky toe https://orcid.org/0000-0001-6908-9849 2010-11-11T04:55:30Z UMLS:C4022107 Absent middle toe bones human_phenotype HP:0100387 Aplasia of the middle phalanges of the toes HP:0100387 Absent middle toe bones https://orcid.org/0000-0001-6908-9849 2010-11-11T04:55:30Z UMLS:C4022106 Absent innermost toe bones human_phenotype HP:0100388 Aplasia of the proximal phalanges of the toes HP:0100388 Absent innermost toe bones https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the distal phalanx of third toe. UMLS:C4021008 Hypoplastic/small distal phalanx of the 3rd toe Short distal phalanx of the third toe Short outermost bone of the 3rd toe human_phenotype HP:0100389 Short distal phalanx of the 3rd toe HP:0100389 Developmental hypoplasia of the distal phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Short outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the distal phalanx of fourth toe. UMLS:C4021007 Hypoplastic/small distal phalanx of the 4th toe Short distal phalanx of the fourth toe Short outermost bone of the 4th toe human_phenotype HP:0100390 Short distal phalanx of the 4th toe HP:0100390 Developmental hypoplasia of the distal phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Short outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the distal phalanx of little toe. UMLS:C4021006 Hypoplastic/small distal phalanx of the 5th toe Short distal phalanx of the fifth toe Short outermost bone of the little toe Short outermost bone of the pinkie toe Short outermost bone of the pinky toe human_phenotype HP:0100391 Short distal phalanx of the 5th toe HP:0100391 Developmental hypoplasia of the distal phalanx of little toe. https://orcid.org/0009-0006-4530-3154 Short outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Short outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Short outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the middle phalanx of third toe. UMLS:C4021005 Hypoplastic/small middle phalanx of the 3rd toe Short middle phalanx of the third toe human_phenotype HP:0100392 Short middle phalanx of the 3rd toe HP:0100392 Developmental hypoplasia of the middle phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Developmental hypoplasia of the middle phalanx of fourth toe. UMLS:C4021004 Hypoplastic/small middle phalanx of the 4th toe Short middle bone of 4th toe Short middle phalanx of the fourth toe human_phenotype HP:0100393 Short middle phalanx of the 4th toe HP:0100393 Developmental hypoplasia of the middle phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Short middle bone of 4th toe https://orcid.org/0000-0001-5208-3432 Developmental hypoplasia of the middle phalanx of the 5th toe. UMLS:C4021003 Hypoplastic/small middle phalanx of the 5th toe Short middle bone of little toe Short middle bone of pinkie toe Short middle bone of pinky toe Short middle phalanx of the fifth toe human_phenotype HP:0100394 Short middle phalanx of the 5th toe HP:0100394 Developmental hypoplasia of the middle phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Hypoplastic/small middle phalanx of the 5th toe Short middle bone of little toe https://orcid.org/0000-0001-5208-3432 Short middle bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Short middle bone of pinky toe https://orcid.org/0000-0001-5208-3432 Abnormal reduction in length of proximal phalanx of third toe. UMLS:C4021002 Hypoplastic/small proximal phalanx of the 3rd toe Short proximal phalanx of the third toe human_phenotype HP:0100395 Short proximal phalanx of the 3rd toe HP:0100395 Abnormal reduction in length of proximal phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Developmental hypoplasia of the proximal phalanx of fourth toe. HP:0005628 UMLS:C4021001 Hypoplastic/small proximal phalanx of the 4th toe Short fourth toe proximal phalanx Short proximal phalanx of the fourth toe human_phenotype HP:0100396 Short proximal phalanx of the 4th toe HP:0100396 Developmental hypoplasia of the proximal phalanx of fourth toe. https://orcid.org/0000-0002-0736-9199 Developmental hypoplasia of the proximal phalanx of fifth toe. UMLS:C4021000 Hypoplastic/small proximal phalanx of the 5th toe Short innermost bone of little toe Short innermost bone of pinkie toe Short innermost bone of pinky toe Short proximal phalanx of the fifth toe human_phenotype HP:0100397 Short proximal phalanx of the 5th toe HP:0100397 Developmental hypoplasia of the proximal phalanx of fifth toe. https://orcid.org/0000-0002-0736-9199 Hypoplastic/small proximal phalanx of the 5th toe Short innermost bone of little toe https://orcid.org/0000-0001-5208-3432 Short innermost bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Short innermost bone of pinky toe https://orcid.org/0000-0001-5208-3432 Short proximal phalanx of the fifth toe Partial or complete duplication of distal phalanx of third toe. UMLS:C4020999 Duplication of the distal phalanx of the third toe Duplication of the outermost bone of the 3rd toe Partial/complete duplication of the distal phalanx of the 3rd toe human_phenotype HP:0100398 Duplication of the distal phalanx of the 3rd toe HP:0100398 Partial or complete duplication of distal phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Duplication of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of fourth toe. UMLS:C4020998 Duplication of the distal phalanx of the fourth toe Duplication of the outermost bone of the 4th toe Partial/complete duplication of the distal phalanx of the 4th toe human_phenotype HP:0100399 Duplication of the distal phalanx of the 4th toe HP:0100399 Partial or complete duplication of the distal phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Duplication of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the distal phalanx of little toe. UMLS:C4020997 Duplication of the distal phalanx of the fifth toe Duplication of the outermost bone of the fifth toe Duplication of the outermost bone of the little toe Duplication of the outermost bone of the pinkie toe Duplication of the outermost bone of the pinky toe Partial/complete duplication of the distal phalanx of the 5th toe human_phenotype HP:0100400 Duplication of the distal phalanx of the 5th toe HP:0100400 Partial or complete duplication of the distal phalanx of little toe. https://orcid.org/0009-0006-4530-3154 Duplication of the outermost bone of the fifth toe https://orcid.org/0000-0001-5208-3432 Duplication of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Duplication of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Duplication of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of middle phalanx of third toe. UMLS:C4020996 Duplication of the middle bone of the 3rd toe Duplication of the middle phalanx of the third toe Partial/complete duplication of the middle phalanx of the 3rd toe human_phenotype HP:0100401 Duplication of the middle phalanx of the 3rd toe HP:0100401 Partial or complete duplication of middle phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Duplication of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of middle phalanx of fourth toe. UMLS:C4020995 Duplication of the middle bone of the 4th toe Duplication of the middle phalanx of the fourth toe Partial/complete duplication of the middle phalanx of the 4th toe human_phenotype HP:0100402 Duplication of the middle phalanx of the 4th toe HP:0100402 Partial or complete duplication of middle phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Duplication of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the middle phalanx of the 5th toe. UMLS:C4020994 Duplication of the middle bone of the little toe Duplication of the middle bone of the pinkie toe Duplication of the middle bone of the pinky toe Duplication of the middle phalanx of the fifth toe Partial/complete duplication of the middle phalanx of the 5th toe human_phenotype HP:0100403 Duplication of the middle phalanx of the 5th toe HP:0100403 Partial or complete duplication of the middle phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Duplication of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Duplication of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Duplication of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of proximal phalanx of third toe. UMLS:C4020993 Duplication of the innermost 3rd toe bone Duplication of the proximal phalanx of the third toe Partial/complete duplication of the proximal phalanx of the 3rd toe human_phenotype HP:0100404 Duplication of the proximal phalanx of the 3rd toe HP:0100404 Partial or complete duplication of proximal phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Duplication of the innermost 3rd toe bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the proximal phalanx of fourth toe. UMLS:C4020992 Duplication of the innermost 4th toe bone Duplication of the proximal phalanx of the fourth toe Partial/complete duplication of the proximal phalanx of the 4th toe human_phenotype HP:0100405 Duplication of the proximal phalanx of the 4th toe HP:0100405 Partial or complete duplication of the proximal phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Duplication of the innermost 4th toe bone https://orcid.org/0000-0001-5208-3432 Partial or complete duplication of the proximal phalanx of fifth toe. UMLS:C4020991 Duplication of the innermost bone of the little toe Duplication of the innermost bone of the pinkie toe Duplication of the innermost bone of the pinky toe Duplication of the proximal phalanx of the fifth toe Partial/complete duplication of the proximal phalanx of the 5th toe human_phenotype HP:0100406 Duplication of the proximal phalanx of the 5th toe HP:0100406 Partial or complete duplication of the proximal phalanx of fifth toe. https://orcid.org/0000-0002-0736-9199 Duplication of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Duplication of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Duplication of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Complete duplication of distal phalanx of third toe. UMLS:C4020990 Complete duplication of the distal phalanx of the third toe Complete duplication of the outermost bone of the 3rd toe human_phenotype HP:0100407 Complete duplication of the distal phalanx of the 3rd toe HP:0100407 Complete duplication of distal phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of fourth toe. UMLS:C4020989 Complete duplication of the distal phalanx of the fourth toe Complete duplication of the outermost bone of the 4th toe human_phenotype HP:0100408 Complete duplication of the distal phalanx of the 4th toe HP:0100408 Complete duplication of the distal phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the distal phalanx of little toe. UMLS:C4020988 Complete duplication of the distal phalanx of the fifth toe Complete duplication of the outermost bone of the little toe Complete duplication of the outermost bone of the pinkie toe Complete duplication of the outermost bone of the pinky toe human_phenotype HP:0100409 Complete duplication of the distal phalanx of the 5th toe HP:0100409 Complete duplication of the distal phalanx of little toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Complete duplication of middle phalanx of third toe. UMLS:C4020987 Complete duplication of the middle bone of the 3rd toe Complete duplication of the middle phalanx of the third toe human_phenotype HP:0100410 Complete duplication of the middle phalanx of the 3rd toe HP:0100410 Complete duplication of middle phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Complete duplication of middle phalanx of fourth toe. UMLS:C4020986 Complete duplication of the middle bone of the 4th toe Complete duplication of the middle phalanx of the fourth toe human_phenotype HP:0100411 Complete duplication of the middle phalanx of the 4th toe HP:0100411 Complete duplication of middle phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle phalanx of the 5th toe. UMLS:C4020985 Complete duplication of the middle bone of the little toe Complete duplication of the middle bone of the pinkie toe Complete duplication of the middle bone of the pinky toe Complete duplication of the middle phalanx of the fifth toe human_phenotype HP:0100412 Complete duplication of the middle phalanx of the 5th toe HP:0100412 Complete duplication of the middle phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Complete duplication of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Complete duplication of proximal phalanx of third toe. UMLS:C4022105 Complete duplication of the innermost 3rd toe bone human_phenotype HP:0100413 Complete duplication of the proximal phalanx of the 3rd toe HP:0100413 Complete duplication of proximal phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the innermost 3rd toe bone https://orcid.org/0000-0001-6908-9849 UMLS:C4022104 Complete duplication of the innermost 4th toe bone human_phenotype HP:0100414 Complete duplication of the proximal phalanx of the 4th toe HP:0100414 Complete duplication of the innermost 4th toe bone https://orcid.org/0000-0001-6908-9849 Complete duplication of the proximal phalanx of fifth toe. UMLS:C4020984 Complete duplication of the innermost bone of the little toe Complete duplication of the innermost bone of the pinkie toe Complete duplication of the innermost bone of the pinky toe Complete duplication of the proximal phalanx of the fifth toe human_phenotype HP:0100415 Complete duplication of the proximal phalanx of the 5th toe HP:0100415 Complete duplication of the proximal phalanx of fifth toe. https://orcid.org/0009-0006-4530-3154 Complete duplication of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Complete duplication of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Partial duplication of distal phalanx of third toe. UMLS:C4020983 Partial duplication of the distal phalanx of the third toe Partial duplication of the outermost bone of the 3rd toe human_phenotype HP:0100416 Partial duplication of the distal phalanx of the 3rd toe HP:0100416 Partial duplication of distal phalanx of third toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of fourth toe. UMLS:C4020982 Partial duplication of the distal phalanx of the fourth toe Partial duplication of the outermost bone of the fourth toe human_phenotype HP:0100417 Partial duplication of the distal phalanx of the 4th toe HP:0100417 Partial duplication of the distal phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the outermost bone of the fourth toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the distal phalanx of little toe. UMLS:C4020981 Partial duplication of the distal phalanx of the fifth toe Partial duplication of the outermost bone of the fifth toe Partial duplication of the outermost bone of the little toe Partial duplication of the outermost bone of the pinkie toe Partial duplication of the outermost bone of the pinky toe human_phenotype HP:0100418 Partial duplication of the distal phalanx of the 5th toe HP:0100418 Partial duplication of the distal phalanx of little toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the outermost bone of the fifth toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Partial duplication of middle phalanx of third toe. UMLS:C4020980 Partial duplication of the middle bone of 3rd toe Partial duplication of the middle phalanx of the third toe human_phenotype HP:0100419 Partial duplication of the middle phalanx of the 3rd toe HP:0100419 Partial duplication of middle phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Partial duplication of the middle bone of 3rd toe https://orcid.org/0000-0001-5208-3432 Partial duplication of middle phalanx of fourth toe. UMLS:C4020979 Partial duplication of the middle bone of the 4th toe Partial duplication of the middle phalanx of the fourth toe human_phenotype HP:0100420 Partial duplication of the middle phalanx of the 4th toe HP:0100420 Partial duplication of middle phalanx of fourth toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle phalanx of the 5th toe. UMLS:C4020978 Partial duplication of the middle bone of the little toe Partial duplication of the middle bone of the pinkie toe Partial duplication of the middle bone of the pinky toe Partial duplication of the middle phalanx of the fifth toe human_phenotype HP:0100421 Partial duplication of the middle phalanx of the 5th toe HP:0100421 Partial duplication of the middle phalanx of the 5th toe. https://orcid.org/0000-0002-0736-9199 Partial duplication of the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Partial duplication of proximal phalanx of third toe. UMLS:C4020977 Partial duplication of the innermost bone of 3rd toe Partial duplication of the proximal phalanx of the third toe human_phenotype HP:0100422 Partial duplication of the proximal phalanx of the 3rd toe HP:0100422 Partial duplication of proximal phalanx of third toe. https://orcid.org/0000-0002-0736-9199 Partial duplication of the innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022103 Partial duplication of the innermost bone of 4th toe human_phenotype HP:0100423 Partial duplication of the proximal phalanx of the 4th toe HP:0100423 Partial duplication of the innermost bone of 4th toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the proximal phalanx of fifth toe. UMLS:C4020976 Partial duplication of the innermost bone of the little toe Partial duplication of the innermost bone of the pinkie toe Partial duplication of the innermost bone of the pinky toe Partial duplication of the proximal phalanx of the fifth toe human_phenotype HP:0100424 Partial duplication of the proximal phalanx of the 5th toe HP:0100424 Partial duplication of the proximal phalanx of fifth toe. https://orcid.org/0009-0006-4530-3154 Partial duplication of the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Partial duplication of the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022102 Broad middle 3rd toe bone human_phenotype HP:0100425 Broad middle phalanx of the 3rd toe HP:0100425 Broad middle 3rd toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022101 Broad middle 4th toe bone human_phenotype HP:0100426 Broad middle phalanx of the 4th toe HP:0100426 Broad middle 4th toe bone https://orcid.org/0000-0001-5208-3432 UMLS:C4022100 Broad middle bone of the little toe Broad middle bone of the pinkie toe Broad middle bone of the pinky toe human_phenotype HP:0100427 Broad middle phalanx of the 5th toe HP:0100427 Broad middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Broad middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Broad middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022099 Wide innermost bone of 3rd toe human_phenotype HP:0100428 Broad proximal phalanx of the 3rd toe HP:0100428 Wide innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022098 Wide innermost bone of 4th toe human_phenotype HP:0100429 Broad proximal phalanx of the 4th toe HP:0100429 Wide innermost bone of 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022097 Broad innermost bone of the little toe Broad innermost bone of the pinkie toe Broad innermost bone of the pinky toe human_phenotype HP:0100430 Broad proximal phalanx of the 5th toe HP:0100430 Broad innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Broad innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Broad innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022096 Broad outermost bone of the 3rd toe Wide outermost bone of the 3rd toe human_phenotype HP:0100431 Broad distal phalanx of the 3rd toe HP:0100431 Broad outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022095 Broad outermost bone of the 4th toe Wide outermost bone of the 4th toe human_phenotype HP:0100432 Broad distal phalanx of the 4th toe HP:0100432 Broad outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022094 Broad outermost bone of the 5th toe Wide outermost bone of the little toe Wide outermost bone of the pinkie toe Wide outermost bone of the pinky toe human_phenotype HP:0100433 Broad distal phalanx of the 5th toe HP:0100433 Broad outermost bone of the 5th toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Wide outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022093 Bullet-shaped middle bone of the 3rd toe human_phenotype HP:0100434 Bullet-shaped middle phalanx of the 3rd toe HP:0100434 An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022092 Bullet-shaped middle bone of the 4th toe human_phenotype HP:0100435 Bullet-shaped middle phalanx of the 4th toe HP:0100435 An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022091 Bullet-shaped middle bone of the little toe Bullet-shaped middle bone of the pinkie toe Bullet-shaped middle bone of the pinky toe human_phenotype HP:0100436 Bullet-shaped middle phalanx of the 5th toe HP:0100436 An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022090 Bullet-shaped proximal bone of the 3rd toe human_phenotype HP:0100437 Bullet-shaped proximal phalanx of the 3rd toe HP:0100437 An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped proximal bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022089 Bullet-shaped proximal bone of the 4th toe human_phenotype HP:0100438 Bullet-shaped proximal phalanx of the 4th toe HP:0100438 An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped proximal bone of the 4th toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022088 Bullet-shaped innermost bone of little toe Bullet-shaped innermost bone of pinkie toe Bullet-shaped innermost bone of pinky toe human_phenotype HP:0100439 Bullet-shaped proximal phalanx of the 5th toe HP:0100439 An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped innermost bone of little toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped innermost bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped innermost bone of pinky toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022087 Bullet-shaped outermost bone of the 3rd toe human_phenotype HP:0100440 Bullet-shaped distal phalanx of the 3rd toe HP:0100440 An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022086 Bullet-shaped outermost bone of the 4th toe human_phenotype HP:0100441 Bullet-shaped distal phalanx of the 4th toe HP:0100441 An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. UMLS:C4022085 Bullet-shaped outermost bone of the little toe Bullet-shaped outermost bone of the pinkie toe Bullet-shaped outermost bone of the pinky toe human_phenotype HP:0100442 Bullet-shaped distal phalanx of the 5th toe HP:0100442 An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. https://orcid.org/0000-0002-0736-9199 Bullet-shaped outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Bullet-shaped outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the middle phalanx of the third toe. UMLS:C4022084 Curved middle bone of 3rd toe human_phenotype HP:0100443 Curved middle phalanx of the 3rd toe HP:0100443 A deviation from the normal straight form of the middle phalanx of the third toe. https://orcid.org/0000-0002-0736-9199 Curved middle bone of 3rd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the middle phalanx of the fourth toe. UMLS:C4022083 Curved middle bone of 4th toe human_phenotype HP:0100444 Curved middle phalanx of the 4th toe HP:0100444 A deviation from the normal straight form of the middle phalanx of the fourth toe. https://orcid.org/0000-0002-0736-9199 Curved middle bone of 4th toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the middle phalanx of the fifth toe. UMLS:C4022082 Curved middle bone of little toe Curved middle bone of pinkie toe Curved middle bone of pinky toe human_phenotype HP:0100445 Curved middle phalanx of the 5th toe HP:0100445 A deviation from the normal straight form of the middle phalanx of the fifth toe. https://orcid.org/0000-0002-0736-9199 Curved middle bone of little toe https://orcid.org/0000-0001-5208-3432 Curved middle bone of pinkie toe https://orcid.org/0000-0001-5208-3432 Curved middle bone of pinky toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the proximal phalanx of the third toe. UMLS:C4022081 Curved innermost bone of 3rd toe human_phenotype HP:0100446 Curved proximal phalanx of the 3rd toe HP:0100446 A deviation from the normal straight form of the proximal phalanx of the third toe. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the proximal phalanx of the fourth toe. UMLS:C4022080 Curved innermost bone of the 4th toe human_phenotype HP:0100447 Curved proximal phalanx of the 4th toe HP:0100447 A deviation from the normal straight form of the proximal phalanx of the fourth toe. https://orcid.org/0000-0002-0736-9199 Curved innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the proximal phalanx of the fifth toe. UMLS:C4022079 Curved innermost little toe bone Curved innermost pinkie toe bone Curved innermost pinky toe bone human_phenotype HP:0100448 Curved proximal phalanx of the 5th toe HP:0100448 A deviation from the normal straight form of the proximal phalanx of the fifth toe. https://orcid.org/0000-0002-0736-9199 Curved innermost little toe bone https://orcid.org/0000-0001-5208-3432 Curved innermost pinkie toe bone https://orcid.org/0000-0001-5208-3432 Curved innermost pinky toe bone https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the distal phalanx of the third toe. UMLS:C4022078 Curved outermost bone of the 3rd toe human_phenotype HP:0100449 Curved distal phalanx of the 3rd toe HP:0100449 A deviation from the normal straight form of the distal phalanx of the third toe. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the distal phalanx of the fourth toe. UMLS:C4022077 Curved outermost bone of the 4th toe human_phenotype HP:0100450 Curved distal phalanx of the 4th toe HP:0100450 A deviation from the normal straight form of the distal phalanx of the fourth toe. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 A deviation from the normal straight form of the distal phalanx of the fifth toe. UMLS:C4022076 Curved outermost bone of the little toe Curved outermost bone of the pinkie toe Curved outermost bone of the pinky toe human_phenotype HP:0100451 Curved distal phalanx of the 5th toe HP:0100451 A deviation from the normal straight form of the distal phalanx of the fifth toe. https://orcid.org/0000-0002-0736-9199 Curved outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Curved outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Curved outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022075 human_phenotype HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toe HP:0100452 UMLS:C4022074 human_phenotype HP:0100453 Osteolytic defects of the middle phalanx of the 4th toe HP:0100453 UMLS:C4022073 human_phenotype HP:0100454 Osteolytic defects of the middle phalanx of the 5th toe HP:0100454 UMLS:C4022072 human_phenotype HP:0100455 Osteolytic defects of the proximal phalanx of the 3rd toe HP:0100455 UMLS:C4022071 human_phenotype HP:0100456 Osteolytic defects of the proximal phalanx of the 4th toe HP:0100456 UMLS:C4022070 human_phenotype HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toe HP:0100457 UMLS:C4022069 Osteolytic defects of the outermost bone of the 3rd toe human_phenotype HP:0100458 Osteolytic defects of the distal phalanx of the 3rd toe HP:0100458 Osteolytic defects of the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022068 Osteolytic defects of the outermost bone of the 4th toe human_phenotype HP:0100459 Osteolytic defects of the distal phalanx of the 4th toe HP:0100459 Osteolytic defects of the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022067 Osteolytic defects of the outermost bone of the 5th toe human_phenotype HP:0100460 Osteolytic defects of the distal phalanx of the 5th toe HP:0100460 Osteolytic defects of the outermost bone of the 5th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022066 Uneven increase in bone density in the middle bone of the 3rd toe human_phenotype HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe HP:0100461 Uneven increase in bone density in the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022065 Uneven increase in bone density in middle bone of the 4th toe human_phenotype HP:0100462 Patchy sclerosis of the middle phalanx of the 4th toe HP:0100462 Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022064 Uneven increase in bone density in the middle bone of the little toe Uneven increase in bone density in the middle bone of the pinkie toe Uneven increase in bone density in the middle bone of the pinky toe human_phenotype HP:0100463 Patchy sclerosis of the middle phalanx of the 5th toe HP:0100463 Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022063 Uneven increase in bone density in the innermost bone of the 3rd toe human_phenotype HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe HP:0100464 Uneven increase in bone density in the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022062 Uneven increase in bone density in the innermost bone of the 4th toe human_phenotype HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe HP:0100465 Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022061 Uneven increase in bone density in the innermost bone of the little toe Uneven increase in bone density in the innermost bone of the pinkie toe Uneven increase in bone density in the innermost bone of the pinky toe human_phenotype HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe HP:0100466 Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4022060 Uneven increase in bone density in the outermost bone of the 3rd toe human_phenotype HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toe HP:0100467 Uneven increase in bone density in the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022059 Uneven increase in bone density in the outermost bone of the 4th toe human_phenotype HP:0100468 Patchy sclerosis of the distal phalanx of the 4th toe HP:0100468 Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. UMLS:C4022058 Uneven increase in bone density in the outermost little toe bone Uneven increase in bone density in the outermost pinkie toe bone Uneven increase in bone density in the outermost pinky toe bone human_phenotype HP:0100469 Patchy sclerosis of the distal phalanx of the 5th toe HP:0100469 Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays. https://orcid.org/0000-0002-0736-9199 Uneven increase in bone density in the outermost little toe bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the outermost pinkie toe bone https://orcid.org/0000-0001-5208-3432 Uneven increase in bone density in the outermost pinky toe bone https://orcid.org/0000-0001-5208-3432 HP:0010365 human_phenotype HP:0100470 obsolete Symphalangism affecting the middle phalanx of the 3rd toe true HP:0100470 HP:0010377 human_phenotype HP:0100471 obsolete Symphalangism affecting the middle phalanx of the 4th toe true HP:0100471 HP:0010389 human_phenotype HP:0100472 obsolete Symphalangism affecting the middle phalanx of the 5th toe true HP:0100472 HP:0010365 human_phenotype HP:0100473 obsolete Symphalangism affecting the proximal phalanx of the 3rd toe true HP:0100473 HP:0100481 human_phenotype HP:0100474 obsolete Symphalangism affecting the proximal phalanx of the 4th toe true HP:0100474 HP:0010389 human_phenotype HP:0100475 obsolete Symphalangism affecting the proximal phalanx of the 5th toe true HP:0100475 Bony fusion at the distal interphalangeal joint of the third toe (end-to-end fusion of the medial and distal phalanx of the third toe). UMLS:C4022051 Fused outermost bone of 3rd toe human_phenotype HP:0100476 DIstal 3rd toe symphalangism HP:0100476 Fused outermost bone of 3rd toe https://orcid.org/0000-0001-5208-3432 Bony fusion at the distal interphalangeal joint of the fourth toe (end-to-end fusion of the medial and distal phalanx of the fourth toe). UMLS:C4022050 Fused outermost bone of the 4th toe human_phenotype HP:0100477 Distal 4th toe symphalangism HP:0100477 Fused outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 Bony fusion at the distal interphalangeal joint of the fifth, i.e., little, toe (end-to-end fusion of the medial and distal phalanx of the fifth toe). UMLS:C4022049 Fused outermost bones of the little toe Fused outermost bones of the pinkie toe Fused outermost bones of the pinky toe human_phenotype HP:0100478 Distal 5th toe symphalangism HP:0100478 Fused outermost bones of the little toe https://orcid.org/0000-0001-5208-3432 Fused outermost bones of the pinkie toe https://orcid.org/0000-0001-5208-3432 Fused outermost bones of the pinky toe https://orcid.org/0000-0001-5208-3432 true HP:0100479 Bony fusion of the middle and proximal phalanges of the 3rd toe. UMLS:C4020975 Fused innermost and middle bones of 3rd toe Proximal symphalangism of 3rd toe Symphalangism of the middle and proximal phalanges of the 3rd toe human_phenotype HP:0100480 Proximal 3rd toe symphalangism HP:0100480 Bony fusion of the middle and proximal phalanges of the 3rd toe. https://orcid.org/0009-0006-4530-3154 Fused innermost and middle bones of 3rd toe https://orcid.org/0000-0001-5208-3432 Bony fusion at the proximal interphalangeal joint of the fourth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fourth toe). HP:0100474 UMLS:C4020974 Fused innermost and middle bones of 4th toe Proximal symphalangism of 4th toe Symphalangism of the middle and proximal phalanges of the 4th toe human_phenotype HP:0100481 Proximal 4th toe symphalangism HP:0100481 Bony fusion at the proximal interphalangeal joint of the fourth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fourth toe). https://orcid.org/0009-0006-4530-3154 Fused innermost and middle bones of 4th toe https://orcid.org/0000-0001-5208-3432 Bony fusion at the proximal interphalangeal joint of the fifth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fifth toe). UMLS:C4020973 Fused innermost and middle pinkie toe bones Proximal symphalangism of 5th toe Symphalangism of the middle and proximal phalanges of the 5th toe human_phenotype HP:0100482 Proximal 5th toe symphalangism HP:0100482 Bony fusion at the proximal interphalangeal joint of the fifth (little) toe (end-to-end fusion of the proximal and medial phalanx of the fifth toe). https://orcid.org/0009-0006-4530-3154 Fused innermost and middle pinkie toe bones https://orcid.org/0000-0001-5208-3432 Congenital fusion of the second metatarsal bone with the proximal phalanx of the second toe. UMLS:C4022048 Fused innermost bone of 2nd toe with the 2nd long bone of foot human_phenotype HP:0100483 Second ray metatarsophalangeal synostosis HP:0100483 Fused innermost bone of 2nd toe with the 2nd long bone of foot https://orcid.org/0000-0001-5208-3432 Congenital fusion of the third metatarsal bone with the proximal phalanx of the third toe. UMLS:C4022047 Fused innermost bones of third toe with 3rd long bone of foot human_phenotype HP:0100484 Third ray metatarsophalangeal synostosis HP:0100484 Fused innermost bones of third toe with 3rd long bone of foot https://orcid.org/0000-0001-5889-4463 Congenital fusion of the fourth metatarsal bone with the proximal phalanx of the fourth toe. UMLS:C4022046 Fused innermost bone of the 4th toe with 4th long bone of foot human_phenotype HP:0100485 Fourth ray metatarsophalangeal synostosis HP:0100485 Fused innermost bone of the 4th toe with 4th long bone of foot https://orcid.org/0000-0001-5208-3432 Congenital fusion of the fifth metatarsal bone with the proximal phalanx of the fifth toe. UMLS:C4022045 Fused innermost pinky toe bone with the 5th long bone of foot human_phenotype HP:0100486 Fifth ray metatarsophalangeal synostosis HP:0100486 Fused innermost pinky toe bone with the 5th long bone of foot https://orcid.org/0000-0001-5208-3432 UMLS:C4022044 Triangular shaped outermost bone of the little toe Triangular shaped outermost bone of the pinkie toe Triangular shaped outermost bone of the pinky toe human_phenotype HP:0100487 Triangular shaped distal phalanx of the 5th toe HP:0100487 Triangular shaped outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Triangular shaped outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Triangular shaped outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 Congenital fusion of the firth metatarsal bone with the proximal phalanx of the hallux. 2010-11-18T06:24:21Z UMLS:C4022043 Fusion of the innermost big toe bone with the 1st long bone of foot human_phenotype HP:0100488 First ray metatarsophalangeal synostosis HP:0100488 Fusion of the innermost big toe bone with the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 HP:0010353 2010-11-18T06:49:16Z human_phenotype HP:0100489 obsolete Proximal/middle symphalangism of 2nd toe true HP:0100489 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. 2010-12-14T10:46:57Z HP:0005651 HP:0005662 HP:0005713 HP:0005801 HP:0005821 HP:0006195 HP:0006218 HP:0006240 HP:0009698 SNOMEDCT_US:202281000 UMLS:C0409348 Camptodactyly of hands Camptodactyly of proximal interphalangeal joint Contractures of the proximal interphalangeal joints of the fingers Flexion contractures of proximal interphalangeal joints Permanent flexion of the finger Proximal interphalangeal finger joint contractures human_phenotype HP:0100490 Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified. Camptodactyly of finger HP:0100490 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. PMID:19125433 https://orcid.org/0009-0006-4530-3154 Permanent flexion of the finger https://orcid.org/0000-0002-6548-5200 2010-12-14T10:58:11Z HP:0100239 UMLS:C4020971 Abnormality of lower limb joint Abnormality of the joints of the lower limbs human_phenotype HP:0100491 Abnormality of lower limb joint HP:0100491 Abnormality of lower limb joint Abnormality of the joints of the lower limbs HP:0008366 human_phenotype HP:0100492 obsolete Joint contractures involving the joints of the feet true HP:0100492 A decreased concentration of ammonia in the blood. 2010-12-17T03:54:51Z UMLS:C4022041 human_phenotype HP:0100493 Hypoammonemia HP:0100493 A decreased concentration of ammonia in the blood. HPO_CONTRIBUTOR:gcarletti Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. 2010-12-17T04:02:08Z SNOMEDCT_US:397017008 UMLS:C1301149 Abnormality of mast cells Abnormality of mastocytes human_phenotype HP:0100494 Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies. Abnormal mast cell morphology HP:0100494 Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. https://orcid.org/0009-0006-4530-3154 The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. 2010-12-17T04:06:36Z SNOMEDCT_US:125541005 SNOMEDCT_US:397007003 UMLS:C0024899 human_phenotype HP:0100495 Mastocytosis HP:0100495 The presence of an increased number of mast cells and CD34+ mast cell precursors in the body. https://orcid.org/0009-0006-4530-3154 2010-12-17T04:13:00Z Abnormality of the vitamin B3 metabolism human_phenotype HP:0100496 Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. Abnormal circulating vitamin B3 concentration HP:0100496 Abnormality of the vitamin B3 metabolism The concentration of vitamin B3 in the blood circulation is below the lower limit of normal. 2010-12-17T04:14:51Z Vitamin B3 deficiency human_phenotype Decreased blood concentration of nicotinic acid or nicotinamide HP:0100497 Decreased circulating vitamin B3 concentration HP:0100497 Vitamin B3 deficiency 2010-12-17T04:25:31Z UMLS:C4022039 human_phenotype HP:0100498 Deviation of toes HP:0100498 2010-12-17T04:25:59Z UMLS:C3806533 Medial deviation of toes human_phenotype HP:0100499 Tibial deviation of toes HP:0100499 2010-12-17T04:26:14Z UMLS:C4020970 Lateral deviation of toes human_phenotype HP:0100500 Fibular deviation of toes HP:0100500 An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. 2010-12-17T05:58:08Z UMLS:C4015136 human_phenotype HP:0100501 Recurrent bronchiolitis HP:0100501 An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. https://orcid.org/0000-0002-0736-9199 The concentration of vitamin B12 in the blood circulation is below the lower limit of normal. 2010-12-17T06:00:43Z SNOMEDCT_US:190634004 UMLS:C0042847 Vitamin B12 deficiency human_phenotype HP:0100502 Decreased circulating vitamin B12 concentration HP:0100502 Vitamin B12 deficiency The concentration of vitamin B1 in the blood circulation is below the lower limit of normal. 2010-12-17T06:13:04Z SNOMEDCT_US:399357009 UMLS:C0039841 Low levels of vitamin B1 Reduced blood thiamine level Vitamin B1 deficiency human_phenotype HP:0100503 Decreased circulating vitamin B1 concentration HP:0100503 Vitamin B1 deficiency The concentration of vitamin B2 in the blood circulation is below the lower limit of normal. 2010-12-17T06:13:04Z SNOMEDCT_US:20307000 UMLS:C0035528 Low levels of vitamin B2 Riboflavin deficiency Vitamin B2 deficiency human_phenotype HP:0100504 Decreased circulating vitamin B2 concentration HP:0100504 Vitamin B2 deficiency The concentration of vitamin B5 in the blood circulation is below the lower limit of normal. 2010-12-17T06:13:04Z UMLS:C4022038 Low levels of vitamin B5 Vitamin B5 deficiency human_phenotype HP:0100505 Decreased circulating vitamin B5 concentration HP:0100505 Vitamin B5 deficiency The concentration of vitamin B8 in the blood circulation is below the lower limit of normal. 2010-12-17T06:13:04Z UMLS:C4022037 Low levels of vitamin B8 Vitamin B8 deficiency human_phenotype HP:0100506 Decreased circulating vitamin B8 concentration HP:0100506 Vitamin B8 deficiency The concentration of folic acid in the blood circulation is below the lower limit of normal. 2010-12-17T06:13:04Z SNOMEDCT_US:190633005 UMLS:C0016412 Decreased circulating vitamin B9 concentration Folate deficiency Reduced blood folate concentration human_phenotype Vitamin B9 deficiency HP:0100507 Decreased circulating folate concentration HP:0100507 The concentration of folic acid in the blood circulation is below the lower limit of normal. https://orcid.org/0000-0002-0736-9199 Folate deficiency An anomaly in the metabolism of a vitamin. 2010-12-17T06:17:22Z UMLS:C4022036 Abnormality of vitamin metabolism human_phenotype HP:0100508 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. Abnormality of vitamin metabolism HP:0100508 An anomaly in the metabolism of a vitamin. https://orcid.org/0000-0002-0736-9199 Abnormality of vitamin metabolism Concentration of vitamin C in the blood circulation outside of normal limits. 2010-12-17T06:18:32Z UMLS:C4021863 Abnormality of vitamin C metabolism human_phenotype HP:0100509 Abnormal circulating vitamin C concentration HP:0100509 Abnormality of vitamin C metabolism The concentration of vitamin C in the blood circulation is below the lower limit of normal. 2010-12-17T06:18:50Z SNOMEDCT_US:76169001 UMLS:C0003969 Low levels of vitamin C Vitamin C deficiency human_phenotype HP:0100510 Decreased circulating vitamin C concentration HP:0100510 Vitamin C deficiency Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits. 2010-12-17T06:19:15Z UMLS:C4022035 Abnormality of vitamin D metabolism human_phenotype HP:0100511 Abnormal circulating vitamin D concentration HP:0100511 Abnormality of vitamin D metabolism The concentration of vitamin D in the blood circulation is below the lower limit of normal. 2010-12-17T06:19:35Z SNOMEDCT_US:34713006 UMLS:C0042870 Deficient in vitamin D Low levels of vitamin D Vitamin D deficiency human_phenotype HP:0100512 Decreased circulating vitamin D concentration HP:0100512 Deficient in vitamin D Vitamin D deficiency A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. 2010-12-17T06:20:12Z SNOMEDCT_US:54137008 UMLS:C0042875 Alpha-tocopherol deficiency Low levels of vitamin E Vitamin E deficiency human_phenotype HP:0100513 Decreased circulating vitamin E concentration HP:0100513 A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. PMID:30559825 Alpha-tocopherol deficiency https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-9969-8610 Vitamin E deficiency Concentration of vitamin E in the blood circulation outside of normal limits. 2010-12-17T06:20:30Z UMLS:C4022034 human_phenotype HP:0100514 Abnormal circulating vitamin E concentration HP:0100514 Increased frequency of urination. 2010-12-20T10:34:28Z Constant urination SNOMEDCT_US:162116003 SNOMEDCT_US:300471006 UMLS:C0042023 Frequent urination human_phenotype HP:0100515 Pollakisuria HP:0100515 Increased frequency of urination. https://orcid.org/0000-0002-0736-9199 Constant urination Frequent urination The presence of a neoplasm of the ureter. 2010-12-20T10:35:11Z NCIT:C3262 SNOMEDCT_US:126882009 SNOMEDCT_US:363458004 UMLS:C0041955 UMLS:C0153619 human_phenotype Neoplasia of the ureters ureter, cancer of HP:0100516 Neoplasm of the ureter HP:0100516 The presence of a neoplasm of the ureter. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the urethra. 2010-12-20T10:36:17Z NCIT:C2974 SNOMEDCT_US:126883004 UMLS:C0041971 human_phenotype Neoplasia of the urethra HP:0100517 Neoplasm of the urethra HP:0100517 The presence of a neoplasm of the urethra. https://orcid.org/0000-0002-0736-9199 Painful or difficult urination. 2010-12-20T10:40:36Z SNOMEDCT_US:49650001 UMLS:C0013428 Painful or difficult urination human_phenotype Dull burning sensation with urination HP:0100518 Dysuria HP:0100518 Painful or difficult urination. https://orcid.org/0000-0002-0736-9199 Painful or difficult urination https://orcid.org/0000-0001-5208-3432 Dull burning sensation with urination Absence of urine, clinically classified as below 50ml/day. 2010-12-20T10:41:00Z SNOMEDCT_US:2472002 UMLS:C0003460 Absent urine output human_phenotype HP:0100519 Anuria HP:0100519 Absence of urine, clinically classified as below 50ml/day. https://orcid.org/0009-0006-4530-3154 Absent urine output https://orcid.org/0000-0001-5208-3432 Low output of urine, clinically classified as an output below 300-500ml/day. 2010-12-20T10:42:40Z SNOMEDCT_US:718403007 SNOMEDCT_US:83128009 UMLS:C0028961 human_phenotype HP:0100520 The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. Oliguria HP:0100520 Low output of urine, clinically classified as an output below 300-500ml/day. https://orcid.org/0009-0006-4530-3154 A tumor (abnormal growth of tissue) of the thymus. 2010-12-20T11:02:03Z NCIT:C3262 SNOMEDCT_US:127231009 UMLS:C3714644 human_phenotype HP:0100521 Neoplasm of the thymus HP:0100521 A tumor (abnormal growth of tissue) of the thymus. https://orcid.org/0000-0002-0736-9199 A tumor originating from the epithelial cells of the thymus. 2010-12-20T11:02:22Z NCIT:C3411 SNOMEDCT_US:128856005 SNOMEDCT_US:444231005 UMLS:C0040100 human_phenotype HP:0100522 Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis. Thymoma HP:0100522 A tumor originating from the epithelial cells of the thymus. https://orcid.org/0009-0006-4530-3154 A localized, circumscribed collection of purulent material (pus) within the liver parenchyma, typically resulting from a bacterial, parasitic, or fungal infection. Unlike hepatitis, which is often diffuse, an abscess is a focal lesion. 2010-12-20T11:13:14Z HP:0001400 SNOMEDCT_US:27916005 UMLS:C0023885 Hepatic abscess Liver abscess Purulent hepatic collection human_phenotype HP:0100523 Unlike hepatitis, which is typically a diffuse inflammatory process, a liver abscess is a focal, localized collection of pus within the liver parenchyma. In addition to being a secondary complication of biliary or intra-abdominal infections, it is a characteristic manifestation of phagocytic defects (e.g., chronic granulomatous disease) and specific innate immune defects, such as NEMO deficiency. Liver abscess HP:0100523 Liver abscess Congenital duplication of all or part of a limb. 2010-12-20T11:32:41Z SNOMEDCT_US:34488005 UMLS:C0265551 Dimelia Limb duplication human_phenotype HP:0100524 Limb duplication HP:0100524 Limb duplication Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. 2010-12-20T11:40:58Z SNOMEDCT_US:398320008 SNOMEDCT_US:50986000 UMLS:C0345344 human_phenotype HP:0100525 Urachus fistula HP:0100525 Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus. HPO_CONTRIBUTOR:Eurenomics_ewuehl Tumor of the lung. 2010-12-20T11:47:12Z Lung cancer NCIT:C3262 SNOMEDCT_US:126713003 UMLS:C0024121 Lung tumor Lung tumour human_phenotype HP:0100526 Neoplasm of the lung HP:0100526 Tumor of the lung. https://orcid.org/0000-0002-0736-9199 Lung cancer Lung tumor Lung tumour 2010-12-20T11:47:33Z NCIT:C3262 UMLS:C4022033 human_phenotype HP:0100527 Neoplasia of the pleura HP:0100527 A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. 2010-12-20T11:48:57Z NCIT:C3732 SNOMEDCT_US:128763002 SNOMEDCT_US:707670009 UMLS:C1266144 human_phenotype HP:0100528 Pleuropulmonary blastoma HP:0100528 A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. https://orcid.org/0009-0006-4530-3154 Any deviation from the normal concentration of phosphate ion in the blood circulation. 2010-12-20T11:58:32Z UMLS:C4022032 Abnormal blood phosphate concentration Abnormal phosphate ion level Abnormality of phosphate homeostasis human_phenotype HP:0100529 Abnormal circulating phosphate ion concentration HP:0100529 Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. 2010-12-20T12:00:26Z UMLS:C4022031 Abnormal Ca-PHOS regulating hormone level Abnormal Ca2+ PO4 regulating hormone level human_phenotype HP:0100530 Abnormal circulating calcium-phosphate regulating hormone concentration HP:0100530 Abnormal Ca-PHOS regulating hormone level Abnormal Ca2+ PO4 regulating hormone level The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. 2010-12-20T12:43:09Z UMLS:C4022030 Wind-swept deformity of the knees human_phenotype HP:0100531 Wind-swept deformity of the knees HP:0100531 The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. https://orcid.org/0009-0006-4530-3154 Wind-swept deformity of the knees Inflammation of the sclera. 2010-12-20T03:50:04Z Inflammation of the outer white part of the eye SNOMEDCT_US:78370002 UMLS:C0036416 human_phenotype HP:0100532 Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. Scleritis HP:0100532 Inflammation of the sclera. https://orcid.org/0000-0002-0736-9199 Inflammation of the outer white part of the eye https://orcid.org/0000-0001-5208-3432 Inflammation of the eye, parts of the eye or the periorbital region. 2010-12-20T03:53:42Z HP:0007891 UMLS:C4020969 Inflammatory abnormality of the eye Ocular inflammation human_phenotype HP:0100533 Inflammatory abnormality of the eye HP:0100533 Inflammation of the eye, parts of the eye or the periorbital region. https://orcid.org/0009-0006-4530-3154 Inflammatory abnormality of the eye Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. 2010-12-20T05:48:22Z SNOMEDCT_US:815008 UMLS:C0014583 Inflammation of the thin layer on top of the white part of eye human_phenotype HP:0100534 In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera. Episcleritis HP:0100534 Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. https://orcid.org/0000-0002-0736-9199 Inflammation of the thin layer on top of the white part of eye https://orcid.org/0000-0002-6548-5200 2010-12-20T05:53:38Z UMLS:C4022029 human_phenotype HP:0100535 Tibiofibular diastasis HP:0100535 An abnormality of fascia. 2010-12-20T05:58:56Z UMLS:C4022028 Abnormality of the fascia human_phenotype HP:0100536 Abnormal fascia morphology HP:0100536 An abnormality of fascia. https://orcid.org/0000-0002-0736-9199 Inflammation of fascia, the tissue under the skin and over the muscle. 2010-12-20T05:59:18Z SNOMEDCT_US:36948007 UMLS:C0015645 Inflammation of the fascia human_phenotype HP:0100537 Fasciitis HP:0100537 Inflammation of fascia, the tissue under the skin and over the muscle. https://orcid.org/0000-0002-0736-9199 Inflammation of the fascia https://orcid.org/0000-0001-5208-3432 An anomaly of the supraorbital portion of the frontal bones. 2010-12-20T06:05:56Z UMLS:C4022027 Abnormality of the brow of the face Deformity of the supraorbital margins Deformity of the supraorbital ridges Malformation of the supraorbital margins Malformation of the supraorbital ridges human_phenotype HP:0100538 Abnormality of the supraorbital ridges HP:0100538 An anomaly of the supraorbital portion of the frontal bones. https://orcid.org/0000-0002-0736-9199 Abnormality of the brow of the face https://orcid.org/0000-0001-5889-4463 Deformity of the supraorbital margins https://orcid.org/0000-0001-5889-4463 Deformity of the supraorbital ridges https://orcid.org/0000-0001-5889-4463 Malformation of the supraorbital margins https://orcid.org/0000-0001-5889-4463 Malformation of the supraorbital ridges https://orcid.org/0000-0001-5889-4463 Edema affecting the region situated around the orbit of the eye. 2010-12-20T06:09:04Z SNOMEDCT_US:109245003 SNOMEDCT_US:267041004 SNOMEDCT_US:49563000 UMLS:C0149754 UMLS:C0151205 UMLS:C0424810 Periorbital cellulitis Periorbital oedema human_phenotype HP:0100539 Periorbital edema HP:0100539 Edema affecting the region situated around the orbit of the eye. https://orcid.org/0000-0002-0736-9199 Periorbital cellulitis https://orcid.org/0000-0001-5889-4463 Periorbital oedema Edema in the region of the eyelids. 2010-12-20T06:09:32Z HP:0000626 SNOMEDCT_US:89091004 UMLS:C0162285 Edema of the eyelids Eyelid edema Eyelid oedema Fullness of eyelids Oedema of the eyelids Palpebral oedema Puffy eyelids Puffy lids Swelling of eyelids human_phenotype HP:0100540 Palpebral edema HP:0100540 Edema in the region of the eyelids. https://orcid.org/0000-0002-0736-9199 Eyelid oedema Fullness of eyelids https://orcid.org/0000-0001-5889-4463 Oedema of the eyelids Palpebral oedema Puffy eyelids Puffy lids Swelling of eyelids https://orcid.org/0000-0001-5889-4463 A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. 2010-12-20T06:16:40Z MEDDRA:10016434 SNOMEDCT_US:50063009 UMLS:C0019288 Crural hernia human_phenotype HP:0100541 Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. Femoral hernia HP:0100541 A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. https://orcid.org/0009-0006-4530-3154 MEDDRA:10016434 Femoral hernia An abnormal site of the kidney. 2010-12-20T06:43:50Z UMLS:C4020968 Abnormal localisation of kidneys human_phenotype HP:0100542 Abnormal localization of kidney HP:0100542 An abnormal site of the kidney. https://orcid.org/0000-0002-0736-9199 Abnormal localisation of kidneys Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. 2010-12-20T06:50:32Z HP:0002128 HP:0002129 HP:0002302 HP:0002337 HP:0002441 HP:0006972 HP:0006998 HP:0007211 SNOMEDCT_US:386806002 UMLS:C0338656 UMLS:C0683322 Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Cognitive impairment Intellectual impairment human_phenotype HP:0100543 An individual with cognitive impairment may experience difficulties in remembering, learning new things, concentrating, or making decisions. Cognitive impairment HP:0100543 Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Cognitive impairment Intellectual impairment A tumor (abnormal growth of tissue) of the heart. 2010-12-20T07:00:31Z NCIT:C3262 SNOMEDCT_US:387842002 UMLS:C0018809 Cardiac neoplasm Heart tumor Heart tumour human_phenotype Cardiac neoplasia HP:0100544 Neoplasm of the heart HP:0100544 A tumor (abnormal growth of tissue) of the heart. https://orcid.org/0000-0002-0736-9199 Heart tumor https://orcid.org/0000-0001-5208-3432 Heart tumour Narrowing or constriction of the inner surface (lumen) of an artery. 2010-12-21T01:30:07Z SNOMEDCT_US:68109007 UMLS:C0038449 Narrowing of an artery human_phenotype HP:0100545 Arterial stenosis HP:0100545 Narrowing or constriction of the inner surface (lumen) of an artery. https://orcid.org/0000-0002-0736-9199 Narrowing of an artery https://orcid.org/0000-0001-5208-3432 Narrowing of the carotid arteries. 2010-12-21T01:31:46Z SNOMEDCT_US:64586002 UMLS:C0007282 Carotid stenosis Narrowing of carotid artery human_phenotype HP:0100546 Carotid artery stenosis is usually caused by caused by atherosclerosis. Carotid artery stenosis HP:0100546 Narrowing of the carotid arteries. https://orcid.org/0000-0002-0736-9199 Narrowing of carotid artery https://orcid.org/0000-0001-5208-3432 An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. 2010-12-21T02:12:53Z UMLS:C4020967 Abnormal shape of forebrain Abnormality of forebrain morphology Abnormality of the forebrain human_phenotype HP:0100547 Abnormal forebrain morphology HP:0100547 An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. https://orcid.org/0000-0002-0736-9199 Abnormal shape of forebrain https://orcid.org/0000-0001-5208-3432 Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. 2010-12-21T02:20:01Z SNOMEDCT_US:110407002 UMLS:C0015338 human_phenotype HP:0100548 Exstrophy HP:0100548 Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. https://orcid.org/0000-0002-0736-9199 true HP:0100549 Breakage (tear) of a tendon. 2010-12-21T02:58:13Z SNOMEDCT_US:415749005 UMLS:C0151937 Rupture of tendons Ruptured tendon Tendon rupture Tendon/muscle rupture human_phenotype HP:0100550 Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. Tendon rupture HP:0100550 Breakage (tear) of a tendon. PMID:27047816 https://orcid.org/0000-0002-0736-9199 Rupture of tendons Ruptured tendon Tendon rupture A neoplasm of the trachea. 2010-12-21T03:44:37Z HP:0012291 NCIT:C3262 SNOMEDCT_US:126703006 UMLS:C0040582 Tracheal neoplasm human_phenotype HP:0100551 Neoplasm of the trachea HP:0100551 2010-12-21T03:46:30Z NCIT:C3262 UMLS:C4022026 human_phenotype HP:0100552 Neoplasm of the tracheobronchial system HP:0100552 Overgrowth of only one leg. 2010-12-21T03:58:40Z SNOMEDCT_US:205369009 UMLS:C0431928 Overgrowth of one leg human_phenotype HP:0100553 Hemihypertrophy of lower limb HP:0100553 Overgrowth of only one leg. https://orcid.org/0000-0002-0736-9199 Overgrowth of one leg https://orcid.org/0000-0001-5208-3432 Overgrowth of only one arm. 2010-12-21T03:58:55Z SNOMEDCT_US:253920006 UMLS:C0431810 Overgrowth of one arm human_phenotype HP:0100554 Hemihypertrophy of upper limb HP:0100554 Overgrowth of only one arm. https://orcid.org/0000-0002-0736-9199 Overgrowth of one arm https://orcid.org/0000-0001-5208-3432 A growth pattern that displays an abnormal difference between the left and the right side. 2010-12-21T04:00:12Z UMLS:C4022025 Uneven or disproportionate growth of one body part compared to another human_phenotype HP:0100555 Asymmetric growth HP:0100555 A growth pattern that displays an abnormal difference between the left and the right side. https://orcid.org/0000-0002-0736-9199 Uneven or disproportionate growth of one body part compared to another https://orcid.org/0000-0002-6548-5200 Undergrowth of the limbs that affects only one side. 2010-12-21T04:01:10Z HP:0005091 HP:0200051 SNOMEDCT_US:34087007 UMLS:C0333662 Asymmetric limb shortening Hemiatrophy of the body human_phenotype HP:0100556 Hemiatrophy HP:0100556 Undergrowth of the limbs that affects only one side. https://orcid.org/0000-0002-6410-0882 Asymmetric limb shortening Unilateral atrophy (reduction in size) of a leg. 2010-12-21T04:01:28Z SNOMEDCT_US:709411004 UMLS:C0431934 Asymmetric lower limb shortening human_phenotype HP:0100557 Hemiatrophy of lower limb HP:0100557 Unilateral atrophy (reduction in size) of a leg. https://orcid.org/0000-0002-0736-9199 Asymmetric lower limb shortening https://orcid.org/0000-0001-5208-3432 Unilateral atrophy (reduction in size) of an arm. 2010-12-21T04:01:48Z HP:0200052 SNOMEDCT_US:253921005 UMLS:C0431814 Asymmetric upper limb shortening Hemihypotrophy of upper limb human_phenotype HP:0100558 Hemiatrophy of upper limb HP:0100558 Unilateral atrophy (reduction in size) of an arm. https://orcid.org/0000-0002-0736-9199 Asymmetric upper limb shortening https://orcid.org/0000-0001-5208-3432 A difference in length or diameter between the left and right leg. 2010-12-21T04:04:27Z SNOMEDCT_US:45939007 UMLS:C0023221 Left and right leg differ in length or width human_phenotype Leg length discrepancy HP:0100559 Lower limb asymmetry HP:0100559 A difference in length or diameter between the left and right leg. https://orcid.org/0000-0002-0736-9199 Left and right leg differ in length or width https://orcid.org/0000-0002-6548-5200 Leg length discrepancy Difference in length or size between the right and left arm. 2010-12-21T04:04:56Z UMLS:C4022024 Unequal size of arms human_phenotype HP:0100560 Upper limb asymmetry HP:0100560 Difference in length or size between the right and left arm. https://orcid.org/0000-0002-0736-9199 Unequal size of arms https://orcid.org/0000-0002-6548-5200 2010-12-21T04:34:03Z UMLS:C0241224 human_phenotype HP:0100561 Spinal cord lesion HP:0100561 Duplication of the spinal cord. 2010-12-21T04:35:22Z SNOMEDCT_US:360527003 UMLS:C1260890 Duplication of spinal cord human_phenotype HP:0100562 Diplomyelia HP:0100562 Duplication of the spinal cord. https://orcid.org/0009-0006-4530-3154 Duplication of spinal cord https://orcid.org/0000-0001-5208-3432 Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. 2010-12-21T04:35:22Z UMLS:C4022023 human_phenotype HP:0100563 Diastomatomyelia HP:0100563 Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum. https://orcid.org/0009-0006-4530-3154 Triplication of the spinal cord - extremely rare. 2010-12-21T04:35:22Z UMLS:C4022022 Triplication of spinal cord human_phenotype HP:0100564 Triplomyelia HP:0100564 Triplication of the spinal cord - extremely rare. https://orcid.org/0009-0006-4530-3154 Triplication of spinal cord https://orcid.org/0000-0001-5208-3432 Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. 2010-12-21T04:35:22Z SNOMEDCT_US:11197005 SNOMEDCT_US:74740003 UMLS:C0152444 human_phenotype HP:0100565 Hydromyelia HP:0100565 Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo. https://orcid.org/0009-0006-4530-3154 Congenital absence of the spinal cord. 2010-12-21T04:41:35Z SNOMEDCT_US:78784005 UMLS:C0266510 Absent spinal cord human_phenotype HP:0100566 Amyelia HP:0100566 Congenital absence of the spinal cord. https://orcid.org/0009-0006-4530-3154 Absent spinal cord https://orcid.org/0000-0001-5208-3432 true HP:0100567 A tumor (abnormal growth of tissue) of the endocrine system. 2010-12-21T04:55:15Z NCIT:C3262 SNOMEDCT_US:387922007 SNOMEDCT_US:387927001 UMLS:C0014132 Endocrine neoplasia human_phenotype HP:0100568 Neoplasm of the endocrine system HP:0100568 A tumor (abnormal growth of tissue) of the endocrine system. https://orcid.org/0000-0002-0736-9199 An abnormality of the formation and mineralization of one or more vertebrae. 2010-12-21T04:50:43Z UMLS:C4020966 Abnormal bone maturation of vertebra Abnormal vertebral ossification Abnormality of ossification/mineralisation of vertebrae human_phenotype HP:0100569 Abnormally ossified vertebrae HP:0100569 An abnormality of the formation and mineralization of one or more vertebrae. https://orcid.org/0000-0002-0736-9199 Abnormal bone maturation of vertebra https://orcid.org/0000-0001-5208-3432 A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. 2010-12-21T04:57:15Z SNOMEDCT_US:189607006 SNOMEDCT_US:443492008 UMLS:C0007095 Carcinoid Carcinoid tumour human_phenotype Carcinoid tumors Carcinoid tumours HP:0100570 Carcinoid tumor HP:0100570 A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. https://orcid.org/0009-0006-4530-3154 Carcinoid tumour Carcinoid tumors https://orcid.org/0000-0002-5316-1399 Carcinoid tumours A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. 2010-12-21T05:11:26Z UMLS:C4020965 Ventricular diverticulum human_phenotype HP:0100571 Cardiac diverticulum HP:0100571 A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. https://orcid.org/0009-0006-4530-3154 A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. 2010-12-21T05:14:00Z UMLS:C4020964 Congenital ventricular aneurysm human_phenotype HP:0100572 Fibrous cardiac diverticulum HP:0100572 A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly. https://orcid.org/0009-0006-4530-3154 2010-12-21T05:14:00Z UMLS:C4022021 human_phenotype HP:0100573 Muscular cardiac diverticulum HP:0100573 A tumor (abnormal growth of tissue) of the biliary system. 2010-12-21T05:18:27Z HP:0030152 NCIT:C3262 SNOMEDCT_US:126853008 UMLS:C0005426 UMLS:C4020709 human_phenotype Neoplasia of the biliary tract HP:0100574 Biliary tract neoplasm HP:0100574 A tumor (abnormal growth of tissue) of the biliary system. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the gallbladder. 2010-12-21T05:18:44Z NCIT:C3262 SNOMEDCT_US:126854002 UMLS:C0016978 UMLS:C4020708 human_phenotype Neoplasia of the gallbladder HP:0100575 Neoplasm of the gallbladder HP:0100575 The presence of a neoplasm of the gallbladder. https://orcid.org/0000-0002-0736-9199 A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. 2010-12-27T12:42:59Z SNOMEDCT_US:88032003 UMLS:C0149793 human_phenotype HP:0100576 Amaurosis fugax HP:0100576 A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. https://orcid.org/0009-0006-4530-3154 Inflammation of the urinary bladder. 2010-12-27T12:49:16Z SNOMEDCT_US:38822007 UMLS:C0010692 Cystitis of the urinary bladder Urinary bladder inflammation human_phenotype HP:0100577 Urinary bladder inflammation HP:0100577 Inflammation of the urinary bladder. https://orcid.org/0000-0002-0736-9199 Urinary bladder inflammation Localized loss of fat tissue. 2010-12-27T12:55:33Z MEDDRA:10024604 SNOMEDCT_US:248315005 UMLS:C1280433 Atrophy of fat Loss of fat tissue in localised area Loss of fat tissue in localized area human_phenotype HP:0100578 This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. Lipoatrophy HP:0100578 Localized loss of fat tissue. https://orcid.org/0009-0006-4530-3154 MEDDRA:10024604 Lipoatrophy Atrophy of fat https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Loss of fat tissue in localised area Loss of fat tissue in localized area https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. 2010-12-27T01:04:18Z UMLS:C4022020 human_phenotype HP:0100579 Mucosal telangiectasiae HP:0100579 Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. https://orcid.org/0009-0006-4530-3154 An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. 2010-12-27T01:33:00Z SNOMEDCT_US:302914006 UMLS:C0004763 Barret syndrome Barrett oesophagus Barrett's esophagus Barrett's oesophagus Endobrachyesophagus human_phenotype HP:0100580 The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. Barrett esophagus HP:0100580 An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. https://orcid.org/0009-0006-4530-3154 Barret syndrome https://orcid.org/0000-0001-5208-3432 Barrett oesophagus Barrett's oesophagus An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. 2010-12-27T02:44:04Z UMLS:C4022019 Caliceal dilatation Caliectasis human_phenotype Megacalicosis HP:0100581 Dilatation of renal calices HP:0100581 An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. https://orcid.org/0009-0006-4530-3154 Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. 2010-12-27T02:47:15Z HP:0000462 SNOMEDCT_US:52756005 UMLS:C0027430 Nasal polyps Polyposis nasi Polyps of nose human_phenotype HP:0100582 Nasal polyps (NP) are benign lesions arising from the mucosa of the nasal sinuses (commonly at the outflow tract of one or more of the sinuses) or from the mucosa of the nasal cavity. The main presenting symptom of NP is nasal obstruction which is constant but can vary depending on the site and size of the polyps. Sufferers will also frequently complain of watery rhinorrhea and postnasal drip. Anosmia or hyposmia with an ensuing alteration in taste are also characteristic symptoms of NP. Nasal polyposis HP:0100582 Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. PMID:18728843 https://orcid.org/0009-0006-4530-3154 Polyps of nose https://orcid.org/0000-0001-5889-4463 A rupture of the cornea through which a portion of the iris protrudes. 2010-12-27T02:52:19Z HP:0100793 SNOMEDCT_US:74895004 UMLS:C0339293 UMLS:C0948060 Iridocele human_phenotype HP:0100583 Corneal perforation HP:0100583 A rupture of the cornea through which a portion of the iris protrudes. HPO_CONTRIBUTOR:DDD_ncarter An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. 2010-12-27T02:57:48Z SNOMEDCT_US:56819008 UMLS:C0014118 human_phenotype HP:0100584 Endocarditis HP:0100584 An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. https://orcid.org/0009-0006-4530-3154 Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. 2010-12-27T03:06:35Z HP:0007561 UMLS:C4022018 Teleangiectasia of the skin human_phenotype HP:0100585 Telangiectasia of the skin HP:0100585 Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. https://orcid.org/0000-0002-0736-9199 Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. 2010-12-27T03:09:12Z UMLS:C4022017 Aseptic leukocyturia human_phenotype HP:0100586 Sterile pyuria HP:0100586 Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria. PMID:25760357 PMID:26425144 PMID:26917663 https://orcid.org/0000-0002-0736-9199 An abnormality of the retractable fold of skin that covers the tip of the penis. 2010-12-27T03:13:07Z UMLS:C4022016 Abnormality of the preputium human_phenotype HP:0100587 Abnormal preputium morphology HP:0100587 The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. 2010-12-27T03:13:30Z SNOMEDCT_US:13758004 UMLS:C0030483 human_phenotype HP:0100588 Paraphimosis HP:0100588 The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis. https://orcid.org/0009-0006-4530-3154 The presence of a fistula affecting the genitourinary system. 2010-12-27T04:09:23Z UMLS:C0853877 human_phenotype HP:0100589 Urogenital fistula HP:0100589 The presence of a fistula affecting the genitourinary system. https://orcid.org/0000-0002-0736-9199 The presence of a fistula affecting the rectum. 2010-12-27T04:11:26Z SNOMEDCT_US:80736008 UMLS:C0034884 human_phenotype HP:0100590 Rectal fistula HP:0100590 The presence of a fistula affecting the rectum. https://orcid.org/0000-0002-0736-9199 true HP:0100591 The presence of an abscess of the peritoneum. 2010-12-27T04:30:53Z SNOMEDCT_US:73962000 UMLS:C0267756 human_phenotype HP:0100592 Peritoneal abscess HP:0100592 The presence of an abscess of the peritoneum. https://orcid.org/0000-0002-0736-9199 The presence of calcium deposition in cartilage. 2010-12-27T04:35:28Z UMLS:C4022015 human_phenotype HP:0100593 Calcification of cartilage HP:0100593 Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). 2010-12-27T04:51:07Z SNOMEDCT_US:19216006 SNOMEDCT_US:22395006 UMLS:C0267080 human_phenotype HP:0100594 Esophageal web HP:0100594 Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare). https://orcid.org/0009-0006-4530-3154 An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. 2010-12-27T04:55:11Z SNOMEDCT_US:13534001 UMLS:C0264162 human_phenotype HP:0100595 Camptocormia HP:0100595 An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. https://orcid.org/0009-0006-4530-3154 The nostrils (the paired channels of the nose) are not present. 2010-12-27T05:07:16Z HP:0100597 UMLS:C4020707 UMLS:C4020963 Abouphalia Aplasia of the nares Missing nostrils human_phenotype Aplasia/Hypoplasia of the nares HP:0100596 Absent nares HP:0100596 The nostrils (the paired channels of the nose) are not present. https://orcid.org/0000-0002-0736-9199 Missing nostrils https://orcid.org/0000-0001-5889-4463 true HP:0100597 Fluid accumulation in the lungs. 2010-12-27T05:10:09Z SNOMEDCT_US:19242006 UMLS:C0034063 Excess fluid in lungs Lung edema Lung oedema Pulmonary edema Wet lung human_phenotype HP:0100598 Pulmonary edema HP:0100598 Fluid accumulation in the lungs. https://orcid.org/0009-0006-4530-3154 Excess fluid in lungs https://orcid.org/0000-0001-5208-3432 Lung oedema Wet lung https://orcid.org/0000-0001-5208-3432 Two penile structures, separated from the tip to the base of the shaft. 2010-12-27T05:17:57Z SNOMEDCT_US:253851000 UMLS:C0345322 Diphallia Penile duplication human_phenotype HP:0100599 In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation. Bifid penis HP:0100599 Two penile structures, separated from the tip to the base of the shaft. PMID:23650202 https://orcid.org/0009-0006-4530-3154 Penile duplication A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. 2010-12-27T05:19:57Z SNOMEDCT_US:312005008 UMLS:C1868854 Prepenile scrotum human_phenotype HP:0100600 Penoscrotal transposition HP:0100600 A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis. https://orcid.org/0009-0006-4530-3154 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. 2010-12-27T05:26:33Z SNOMEDCT_US:15938005 UMLS:C0013537 human_phenotype HP:0100601 Eclampsia HP:0100601 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. https://orcid.org/0009-0006-4530-3154 Pregnancy-induced hypertension in association with significant amounts of protein in the urine. 2010-12-27T05:26:57Z SNOMEDCT_US:15394000 SNOMEDCT_US:398254007 UMLS:C0032914 Pre-eclampsia human_phenotype HP:0100602 Preeclampsia HP:0100602 Pregnancy-induced hypertension in association with significant amounts of protein in the urine. https://orcid.org/0009-0006-4530-3154 Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. 2010-12-27T05:27:41Z SNOMEDCT_US:15394000 SNOMEDCT_US:398254007 UMLS:C0032914 Hypertensive disorder of pregnancy Toxaemia of pregnancy human_phenotype HP:0100603 Toxemia of pregnancy HP:0100603 Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. https://orcid.org/0009-0006-4530-3154 Toxaemia of pregnancy A tumor (abnormal growth of tissue) of the lip. 2010-12-27T05:46:46Z NCIT:C3262 SNOMEDCT_US:126770008 UMLS:C0023761 UMLS:C4020706 Lip tumor Lip tumour human_phenotype Neoplasia of the lip Tumor of the lip Tumour of the lip HP:0100604 Neoplasm of the lip HP:0100604 A tumor (abnormal growth of tissue) of the lip. https://orcid.org/0000-0002-0736-9199 Lip tumor https://orcid.org/0000-0001-5208-3432 Lip tumour Tumor of the lip Tumour of the lip 2010-12-27T06:07:16Z NCIT:C3262 SNOMEDCT_US:126692004 UMLS:C0023055 human_phenotype HP:0100605 Neoplasm of the larynx HP:0100605 A tumor (abnormal growth of tissue) of the respiratory system. 2010-12-27T06:08:41Z NCIT:C3262 SNOMEDCT_US:126667002 SNOMEDCT_US:448708002 UMLS:C0035244 Respiratory system tumor Respiratory system tumour human_phenotype HP:0100606 Neoplasm of the respiratory system HP:0100606 A tumor (abnormal growth of tissue) of the respiratory system. https://orcid.org/0000-0002-0736-9199 Respiratory system tumor https://orcid.org/0000-0001-5208-3432 Respiratory system tumour Pain during menstruation that interferes with daily activities. 2010-12-27T06:13:30Z SNOMEDCT_US:266599000 SNOMEDCT_US:289900009 SNOMEDCT_US:431416001 UMLS:C0013390 Painful menstruation human_phenotype HP:0100607 Dysmenorrhea HP:0100607 Pain during menstruation that interferes with daily activities. PMID:15686299 Painful menstruation https://orcid.org/0000-0001-5208-3432 Bleeding at irregular intervals. 2010-12-27T06:14:01Z SNOMEDCT_US:19155002 SNOMEDCT_US:237130006 SNOMEDCT_US:64996003 UMLS:C0025874 Abnormal uterus bleeding Intermenstrual bleeding Menstrual spotting human_phenotype HP:0100608 Metrorrhagia HP:0100608 Bleeding at irregular intervals. PMID:22594864 Abnormal uterus bleeding https://orcid.org/0000-0001-5208-3432 Intermenstrual bleeding PMID:28499529 https://orcid.org/0000-0001-5208-3432 Menstrual spotting PMID:28499529 https://orcid.org/0000-0001-5208-3432 HP:0000132 human_phenotype HP:0100609 obsolete Hypermenorrhea true HP:0100609 A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. 2010-12-27T06:17:13Z UMLS:C4022014 High blood phenylalanine level in mother human_phenotype HP:0100610 Maternal hyperphenylalaninemia HP:0100610 A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. https://orcid.org/0000-0002-0736-9199 High blood phenylalanine level in mother https://orcid.org/0000-0001-5208-3432 The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. 2010-12-28T10:23:07Z UMLS:C4020705 UMLS:C4022013 human_phenotype Glomerulocystic kidney disease HP:0100611 Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli. Multiple glomerular cysts HP:0100611 The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. HPO_CONTRIBUTOR:Eurenomics_fschaefer PMID:20091054 PMID:20367310 Neoplasm involving odontogenic cells, an odontogenic tumor. 2010-12-28T11:03:36Z NCIT:C3286 SNOMEDCT_US:127578009 SNOMEDCT_US:3833004 UMLS:C0028880 Odontogenic tumor Odontogenic tumour human_phenotype HP:0100612 Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas. Odontogenic neoplasm HP:0100612 Neoplasm involving odontogenic cells, an odontogenic tumor. https://orcid.org/0009-0006-4530-3154 Odontogenic tumour Death between the age of 16 and 40 years. 2010-12-28T11:12:21Z UMLS:C4022012 Death in early adulthood human_phenotype HP:0100613 Death in early adulthood HP:0100613 Death between the age of 16 and 40 years. https://orcid.org/0000-0002-0736-9199 Death in early adulthood A general term for inflammation of the muscles without respect to the underlying cause. 2010-12-28T11:14:59Z SNOMEDCT_US:128496001 SNOMEDCT_US:26889001 UMLS:C0027121 Muscle inflammation human_phenotype HP:0100614 Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. Myositis HP:0100614 A general term for inflammation of the muscles without respect to the underlying cause. https://orcid.org/0009-0006-4530-3154 Muscle inflammation https://orcid.org/0000-0001-5208-3432 A tumor (abnormal growth of tissue) of the ovary. 2010-12-28T11:37:01Z Ovarian cancer NCIT:C3262 SNOMEDCT_US:123843001 UMLS:C0919267 Neoplasm of the ovaries Neoplasm of the ovary Ovarian tumor Ovarian tumour human_phenotype Ovarian neoplasia HP:0100615 Ovarian neoplasm HP:0100615 A tumor (abnormal growth of tissue) of the ovary. https://orcid.org/0000-0002-0736-9199 Ovarian cancer Ovarian tumor https://orcid.org/0000-0001-5208-3432 Ovarian tumour The presence of a teratoma of the testis. 2010-12-28T11:42:18Z NCIT:C3403 UMLS:C0238451 human_phenotype HP:0100616 An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers. Testicular teratoma HP:0100616 The presence of a teratoma of the testis. https://orcid.org/0009-0006-4530-3154 The presence of a seminoma, an undifferentiated germ cell tumor of the testis. 2010-12-28T11:42:18Z NCIT:C9309 SNOMEDCT_US:255107005 SNOMEDCT_US:36741007 SNOMEDCT_US:443675005 UMLS:C0036631 human_phenotype HP:0100617 Testicular seminoma HP:0100617 The presence of a seminoma, an undifferentiated germ cell tumor of the testis. https://orcid.org/0009-0006-4530-3154 The presence of a neoplasm of the testis with origin in a Leydig cell. 2010-12-28T11:42:18Z NCIT:C3188 UMLS:C4022011 human_phenotype HP:0100618 Leydig cell neoplasia HP:0100618 The presence of a neoplasm of the testis with origin in a Leydig cell. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the testis with origin in a Sertoli cell. 2010-12-28T11:42:18Z NCIT:C39976 UMLS:C4020704 human_phenotype Sertoli cell neoplasia HP:0100619 Sertoli cell neoplasm HP:0100619 The presence of a neoplasm of the testis with origin in a Sertoli cell. https://orcid.org/0000-0002-0736-9199 A type of undifferentiated germ cell tumor that may be benign or malignant. 2010-12-28T11:45:44Z SNOMEDCT_US:28307001 UMLS:C0206660 human_phenotype HP:0100620 Germinoma HP:0100620 A type of undifferentiated germ cell tumor that may be benign or malignant. https://orcid.org/0009-0006-4530-3154 The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. 2010-12-28T11:47:47Z NCIT:C2996 SNOMEDCT_US:60718004 UMLS:C0013377 human_phenotype HP:0100621 Dysgerminoma HP:0100621 The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. https://orcid.org/0009-0006-4530-3154 A seizure during pregnancy. 2010-12-28T12:03:21Z UMLS:C4022010 Maternal seizures human_phenotype HP:0100622 Maternal seizure HP:0100622 A seizure during pregnancy. PMID:25746572 Maternal seizures A structural anomaly of the corpus cavernosum, the erectile tissue of the penis. 2010-12-28T12:47:15Z UMLS:C4022009 Abnormality of corpus cavernosum human_phenotype HP:0100623 Abnormal corpus cavernosum morphology HP:0100623 2010-12-28T12:47:33Z UMLS:C4022008 human_phenotype HP:0100624 Corpus cavernosum sclerosis HP:0100624 2010-12-28T04:14:55Z UMLS:C4020962 Wide rib cage Wide thorax human_phenotype HP:0100625 Enlarged thorax HP:0100625 Wide rib cage 2010-12-28T04:59:16Z SNOMEDCT_US:235886005 UMLS:C2936476 Chronic liver failure human_phenotype HP:0100626 Chronic hepatic failure HP:0100626 Chronic liver failure https://orcid.org/0000-0001-5208-3432 A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). 2010-12-28T05:02:59Z HP:0008648 UMLS:C4020961 Displacement of the external urethral orifice Displacement of the male external urethral orifice human_phenotype HP:0100627 Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). Displacement of the urethral meatus HP:0100627 A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). https://orcid.org/0009-0006-4530-3154 The presence of a diverticulum of the esophagus. 2010-12-29T02:22:08Z SNOMEDCT_US:204667006 SNOMEDCT_US:414133009 UMLS:C0014854 Esophageal pouch human_phenotype HP:0100628 A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity. Esophageal diverticulum HP:0100628 The presence of a diverticulum of the esophagus. https://orcid.org/0000-0002-0736-9199 A congenital malformation with a cleft (gap or opening) in the midline of the face. 2010-12-29T02:23:01Z UMLS:C4022007 Midline facial cleft human_phenotype HP:0100629 Midline facial clefts correspond to Tessier number 0,14, and 30. Midline facial cleft HP:0100629 A congenital malformation with a cleft (gap or opening) in the midline of the face. https://orcid.org/0000-0002-0736-9199 Midline facial cleft 2010-12-29T02:23:48Z NCIT:C3262 SNOMEDCT_US:126680004 UMLS:C0027439 Nasopharyngeal neoplasm Neoplasm of the nasopharynx Tumor of the nasopharynx Tumour of the nasopharynx human_phenotype HP:0100630 Neoplasia of the nasopharynx HP:0100630 Tumor of the nasopharynx https://orcid.org/0000-0001-5889-4463 Tumour of the nasopharynx A tumor (abnormal growth of tissue) of the adrenal gland. 2010-12-29T02:27:47Z NCIT:C3262 SNOMEDCT_US:127021009 UMLS:C0001624 Adrenal neoplasia human_phenotype HP:0100631 Neoplasm of the adrenal gland HP:0100631 A tumor (abnormal growth of tissue) of the adrenal gland. https://orcid.org/0000-0002-9113-2978 The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). 2010-12-29T05:05:08Z HP:0010960 SNOMEDCT_US:18620009 UMLS:C0006288 UMLS:C4020703 Bronchopulmonary sequestration human_phenotype Cystic lung lesion HP:0100632 Typically, the sequestered lung tissue receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable. Pulmonary sequestration HP:0100632 The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). PMID:20610189 https://orcid.org/0009-0006-4530-3154 Inflammation of the esophagus. 2010-12-29T05:09:23Z MEDDRA:10030216 SNOMEDCT_US:16761005 UMLS:C0014868 Inflammation of the esophagus Inflammation of the oesophagus Oesophagitis human_phenotype HP:0100633 Esophagitis HP:0100633 Inflammation of the esophagus. https://orcid.org/0000-0002-0736-9199 MEDDRA:10030216 Oesophagitis Inflammation of the esophagus https://orcid.org/0000-0001-5208-3432 Inflammation of the oesophagus A tumor that originates from a neuroendocrine cell. 2010-12-29T05:12:37Z SNOMEDCT_US:128928004 SNOMEDCT_US:255046005 UMLS:C0206754 Neuroendocrine neoplasia human_phenotype HP:0100634 Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden. Neuroendocrine neoplasm HP:0100634 A tumor that originates from a neuroendocrine cell. NCIT:C3809 PMID:28448665 A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. 2010-12-29T05:20:58Z UMLS:C4022005 human_phenotype HP:0100635 Carotid paraganglioma HP:0100635 A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery. https://orcid.org/0000-0002-0736-9199 A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. 2010-12-29T05:23:34Z UMLS:C4022004 human_phenotype HP:0100636 Pulmonary paraglioma HP:0100636 A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells. PMID:26215714 HP:0012720 human_phenotype HP:0100637 obsolete Neoplasia of the nose true HP:0100637 A neoplasm originating in the pharynx. 2010-12-29T05:31:55Z HP:0030073 NCIT:C3262 SNOMEDCT_US:126685009 UMLS:C0031347 Neoplasia of the pharynx Pharyngeal neoplasm Tumor of the pharynx Tumour of the pharynx human_phenotype HP:0100638 Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. Neoplasm of the pharynx HP:0100638 Tumor of the pharynx https://orcid.org/0000-0001-5889-4463 Tumour of the pharynx A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. 2010-12-29T05:45:28Z Abnormal erection Erectile abnormalities human_phenotype HP:0100639 Erectile dysfunction HP:0100639 A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. PMID:27188339 Abnormal erection Erectile abnormalities Presence of a cyst (sac-like structure) located in the larynx. 2010-12-29T05:48:37Z SNOMEDCT_US:195867000 UMLS:C0339880 human_phenotype HP:0100640 Laryngeal cyst HP:0100640 Presence of a cyst (sac-like structure) located in the larynx. PMID:24040590 https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the adrenal cortex. 2010-12-29T05:53:58Z NCIT:C3262 SNOMEDCT_US:127022002 SNOMEDCT_US:18365006 UMLS:C0001618 Cortical adrenal neoplasia human_phenotype HP:0100641 Neoplasm of the adrenal cortex HP:0100641 The presence of a neoplasm of the adrenal cortex. https://orcid.org/0000-0002-0736-9199 The presence of a neoplasm of the adrenal medulla. 2010-12-29T05:54:15Z NCIT:C3262 SNOMEDCT_US:127023007 UMLS:C0596046 Medullar adrenal neoplasia human_phenotype HP:0100642 Neoplasm of the adrenal medulla HP:0100642 The presence of a neoplasm of the adrenal medulla. https://orcid.org/0000-0002-0736-9199 An anomaly of the color of the nail. 2010-12-29T05:59:15Z UMLS:C4020960 Abnormality of nail color Nail dyschromia human_phenotype HP:0100643 Abnormality of nail color HP:0100643 An anomaly of the color of the nail. https://orcid.org/0000-0002-0736-9199 Abnormality of nail color Dark discoloration of a fingernail or toenail (brown, black, bluish and reddish). 2010-12-29T06:00:12Z MEDDRA:10058330 SNOMEDCT_US:402633003 UMLS:C1142305 Dark discoloration of nail human_phenotype HP:0100644 The most serious disease of the nail unit, melanoma, primarily presents with melanonychia. However, melanonychia most often occurs as a result of benign etiologies such as nail matrix melanocytic activation, nail matrix melanocytic hyperplasia, subungual hematoma, glomus tumor, and nail invasion by melanin-producing pathogens. Melanonychia HP:0100644 Dark discoloration of a fingernail or toenail (brown, black, bluish and reddish). PMID:22792094 https://orcid.org/0000-0002-0736-9199 MEDDRA:10058330 Melanonychia Anterior vaginal wall prolapse with bulging of the bladder into the vagina. 2010-12-29T06:05:01Z ICD-9:618.00 SNOMEDCT_US:252005008 UMLS:C1394494 Bladder hernia Bladder prolapse Dropped bladder Prolapsed bladder human_phenotype HP:0100645 Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall. Cystocele HP:0100645 Anterior vaginal wall prolapse with bulging of the bladder into the vagina. https://orcid.org/0009-0006-4530-3154 Bladder hernia Dropped bladder Inflammation of the thyroid gland. 2010-12-29T06:08:32Z SNOMEDCT_US:82119001 UMLS:C0040147 Thyroid gland inflammation human_phenotype HP:0100646 Thyroiditis HP:0100646 Inflammation of the thyroid gland. https://orcid.org/0000-0002-0736-9199 Thyroid gland inflammation https://orcid.org/0000-0001-5208-3432 An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. 2010-12-29T06:08:53Z SNOMEDCT_US:353295004 SNOMEDCT_US:55807009 UMLS:C0018213 Morbus Basedow human_phenotype HP:0100647 Graves disease HP:0100647 An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. https://orcid.org/0009-0006-4530-3154 A tumor (abnormal growth of tissue) of the tongue. 2010-12-29T06:14:32Z NCIT:C3262 SNOMEDCT_US:126778001 UMLS:C0040411 human_phenotype HP:0100648 Neoplasm of the tongue HP:0100648 A tumor (abnormal growth of tissue) of the tongue. https://orcid.org/0000-0002-0736-9199 A tumor (abnormal growth of tissue) of the oral cavity. 2010-12-29T06:15:14Z HP:0012290 Lesion of oral cavity NCIT:C3262 SNOMEDCT_US:1071000119107 SNOMEDCT_US:126797001 SNOMEDCT_US:235075007 UMLS:C0026640 UMLS:C0149744 UMLS:C4280289 Mouth neoplasm Mouth tumor Mouth tumour Neoplasm of the mouth Tumor of oral cavity Tumour of oral cavity human_phenotype HP:0100649 Neoplasm of the oral cavity HP:0100649 A tumor (abnormal growth of tissue) of the oral cavity. https://orcid.org/0000-0002-0736-9199 Lesion of oral cavity https://orcid.org/0000-0001-5889-4463 Mouth tumor Mouth tumour Tumor of oral cavity https://orcid.org/0000-0001-5889-4463 Tumour of oral cavity A tumor (abnormal growth of tissue) of the vagina. 2010-12-29T06:34:41Z NCIT:C3262 SNOMEDCT_US:126921000 UMLS:C0042258 UMLS:C0750081 Vaginal tumor Vaginal tumour human_phenotype Vaginal neoplasia HP:0100650 Vaginal neoplasm HP:0100650 A tumor (abnormal growth of tissue) of the vagina. https://orcid.org/0000-0002-0736-9199 Vaginal tumor https://orcid.org/0000-0001-5208-3432 Vaginal tumour A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. 2010-12-29T06:37:55Z SNOMEDCT_US:46635009 UMLS:C0011854 Diabetes mellitus Type I Juvenile diabetes mellitus Type 1 diabetes Type I diabetes human_phenotype Insulin-dependent diabetes mellitus HP:0100651 The onset of type 1 diabetes is typically during adolescence, but it can develop at any age. Type I diabetes mellitus HP:0100651 A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. https://orcid.org/0000-0002-0736-9199 Type 1 diabetes Type I diabetes Insulin-dependent diabetes mellitus https://orcid.org/0000-0002-5316-1399 true HP:0100652 Inflammation of the optic nerve. 2010-12-30T09:56:38Z SNOMEDCT_US:66760008 UMLS:C0029134 human_phenotype HP:0100653 Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage. Optic neuritis HP:0100653 Inflammation of the optic nerve. https://orcid.org/0009-0006-4530-3154 Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. 2010-12-30T09:57:09Z SNOMEDCT_US:230507009 UMLS:C0085582 Retrobulbar neuritis human_phenotype HP:0100654 Retrobulbar optic neuritis HP:0100654 Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. https://orcid.org/0009-0006-4530-3154 true HP:0100655 Failure of the chest and abdominal wall to close, which is likely caused by the failure of the ventral wall to close during week 4 of development. 2010-12-30T10:04:18Z UMLS:C4022002 Thoracoabdominal schisis human_phenotype HP:0100656 Thoracoschisis is a very rare congenital anomaly defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. It be accompanied by thoracic ectopia cordis and gastroschisis. Thoracoabdominal wall defect HP:0100656 Failure of the chest and abdominal wall to close, which is likely caused by the failure of the ventral wall to close during week 4 of development. PMID:29348951 Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. 2010-12-30T10:07:54Z SNOMEDCT_US:44518003 UMLS:C0266682 Celosomia Kelosomia human_phenotype HP:0100657 Thoracoabdominal eventration HP:0100657 Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls. https://orcid.org/0009-0006-4530-3154 A bacterial infection and inflammation of the skin und subcutaneous tissues. 2010-12-30T10:11:51Z HP:0003553 SNOMEDCT_US:128045006 SNOMEDCT_US:128936008 SNOMEDCT_US:385627004 UMLS:C0007642 UMLS:C0162627 Bacterial infection of skin Skin infection human_phenotype Skin infections HP:0100658 In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. Cellulitis HP:0100658 Bacterial infection of skin https://orcid.org/0000-0001-5208-3432 Skin infection An anomaly of the cerebral blood vessels. 2010-12-30T11:39:15Z UMLS:C4022001 Abnormality of the cerebral blood vessels Abnormality of the cerebral vasculature human_phenotype HP:0100659 Abnormal cerebral vascular morphology HP:0100659 An anomaly of the cerebral blood vessels. PMID:30335330 Abnormality of the cerebral blood vessels https://orcid.org/0000-0001-5208-3432 A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. 2010-12-30T11:46:50Z SNOMEDCT_US:9748009 UMLS:C0013384 Disorder of involuntary muscle movements Dyskinesis human_phenotype Dyskinesias HP:0100660 Dyskinesia HP:0100660 A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. https://orcid.org/0009-0006-4530-3154 Disorder of involuntary muscle movements https://orcid.org/0000-0002-6548-5200 Dyskinesias https://orcid.org/0000-0002-5316-1399 A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. 2010-12-30T11:53:47Z SNOMEDCT_US:31681005 UMLS:C0040997 Tic douloureux human_phenotype HP:0100661 Trigeminal neuralgia HP:0100661 A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. https://orcid.org/0009-0006-4530-3154 Inflammation of cartilage. 2010-12-30T12:57:50Z SNOMEDCT_US:46176001 UMLS:C0008439 Cartilage inflammation human_phenotype HP:0100662 Chondritis HP:0100662 Inflammation of cartilage. https://orcid.org/0009-0006-4530-3154 Cartilage inflammation A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. 2010-12-30T01:00:36Z SNOMEDCT_US:77471004 UMLS:C0266677 human_phenotype HP:0100663 Synotia HP:0100663 A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. https://orcid.org/0009-0006-4530-3154 true HP:0100664 Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. 2010-12-30T01:09:59Z HP:0100666 SNOMEDCT_US:400075008 SNOMEDCT_US:41291007 UMLS:C0002994 Angioneurotic edema Angioneurotic oedema Angiooedema Quincke edema Quincke oedema human_phenotype HP:0100665 Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. Angioedema HP:0100665 Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. https://orcid.org/0009-0006-4530-3154 Angioneurotic oedema Quincke oedema true HP:0100666 true HP:0100667 A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. 2010-12-30T01:23:50Z SNOMEDCT_US:3845008 UMLS:C0266166 UMLS:C4020702 Bowel duplication human_phenotype Gut duplication HP:0100668 Intestinal duplication HP:0100668 A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine. https://orcid.org/0000-0002-0736-9199 Bowel duplication Gut duplication An abnormality of the pigmentation of the mucosa of the mouth. 2010-12-30T01:25:45Z Abnormal color of the oral mucosa Abnormal colour of the oral mucosa UMLS:C4020959 Abnormal pigmentation of oral cavity Abnormal pigmentation of oral mucous membrane Abnormal pigmentation of the oral mucosa/gingivae human_phenotype HP:0100669 Abnormal pigmentation of the oral mucosa HP:0100669 An abnormality of the pigmentation of the mucosa of the mouth. https://orcid.org/0000-0002-0736-9199 Abnormal color of the oral mucosa https://orcid.org/0000-0001-5889-4463 Abnormal colour of the oral mucosa Abnormal pigmentation of oral mucous membrane https://orcid.org/0000-0001-5889-4463 Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. 2010-12-30T01:29:46Z UMLS:C4020958 Coarse trabeculation at metaphyses Rough bone trabeculation Rough trabeculation of bone human_phenotype HP:0100670 Coarse metaphyseal trabecularization HP:0100670 Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. PMID:409205 Abnormal structure or form of trabecular bone. 2010-12-30T01:30:05Z UMLS:C4020957 Abnormal shape of spongy bone Abnormality of bone trabeculation human_phenotype HP:0100671 Abnormal trabecular bone morphology HP:0100671 Abnormal structure or form of trabecular bone. https://orcid.org/0000-0002-0736-9199 Abnormal shape of spongy bone https://orcid.org/0000-0001-5208-3432 HP:0031607 2010-12-30T01:35:05Z human_phenotype HP:0100672 obsolete Vaginal hernia true HP:0100672 A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable. 2010-12-30T01:36:39Z SNOMEDCT_US:26614003 SNOMEDCT_US:386152007 SNOMEDCT_US:55434001 UMLS:C1720771 human_phenotype HP:0100673 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. Vaginal hydrocele HP:0100673 A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable. PMID:32644551 2010-12-30T01:36:39Z UMLS:C1456401 human_phenotype HP:0100674 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. Vaginal hematocele HP:0100674 2010-12-30T01:36:39Z UMLS:C4022000 human_phenotype HP:0100675 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. Vaginal pyocele HP:0100675 2010-12-30T01:36:39Z UMLS:C4021999 human_phenotype HP:0100676 "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. Vaginal lymphocele HP:0100676 Varicosity of veins in the vulval region. 2010-12-30T01:36:39Z SNOMEDCT_US:48868008 UMLS:C0155796 human_phenotype HP:0100677 Vulval varicose vein HP:0100677 Varicosity of veins in the vulval region. https://orcid.org/0000-0002-0736-9199 The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. 2010-12-30T01:43:36Z HP:0200074 MEDDRA:10040954 SNOMEDCT_US:247434009 UMLS:C0037301 Premature skin wrinkling human_phenotype Wrinkled skin HP:0100678 Premature skin wrinkling HP:0100678 The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. https://orcid.org/0000-0002-0736-9199 MEDDRA:10040954 Skin wrinkling Premature skin wrinkling Wrinkled skin 2010-12-30T01:48:15Z SNOMEDCT_US:297957009 UMLS:C0558242 UMLS:C4021998 human_phenotype Tight skin HP:0100679 Lack of skin elasticity HP:0100679 Tight skin true HP:0100680 A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. 2010-12-30T02:08:38Z SNOMEDCT_US:66865009 UMLS:C0266135 human_phenotype HP:0100681 Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower third of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut. Esophageal duplication HP:0100681 A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication. PMID:10464795 https://orcid.org/0000-0002-0736-9199 A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. 2010-12-30T02:09:37Z SNOMEDCT_US:53189005 UMLS:C0265766 human_phenotype HP:0100682 Diagnosis can be made if the neonate presents with respiratory distress at birth, unable to produce an audible cry in spite of an obvious physical effort, and cannot be intubated but shows some improvement when ventilated by bag and mask. Tracheal atresia HP:0100682 A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. PMID:9776081 https://orcid.org/0000-0002-0736-9199 true HP:0100683 A tumor (abnormal growth of tissue) of a salivary gland. 2010-12-30T02:20:38Z NCIT:C3262 SNOMEDCT_US:235132004 SNOMEDCT_US:255072001 UMLS:C0036095 UMLS:C0220636 Salivary gland neoplasia Tumor of salivary gland Tumour of salivary gland human_phenotype Cancer of salivary gland HP:0100684 Salivary gland neoplasm HP:0100684 A tumor (abnormal growth of tissue) of a salivary gland. https://orcid.org/0000-0002-0736-9199 Tumor of salivary gland https://orcid.org/0000-0001-5889-4463 Tumour of salivary gland Cancer of salivary gland https://orcid.org/0000-0001-5889-4463 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. 2010-12-30T02:25:32Z UMLS:C4020701 UMLS:C4021997 Abnormal Sharpey fibre morphology Abnormality of Sharpey fibers Abnormality of Sharpey fibres human_phenotype Enthesis abnormality HP:0100685 Abnormal Sharpey fiber morphology HP:0100685 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone. https://orcid.org/0000-0002-0736-9199 Abnormal Sharpey fibre morphology Abnormality of Sharpey fibres 2010-12-30T02:27:20Z SNOMEDCT_US:359643005 UMLS:C1282952 Inflammation of sharpey fibers Inflammation of sharpey fibres human_phenotype HP:0100686 Enthesitis HP:0100686 Inflammation of sharpey fibres The presence of an extra auricle on one or both sides of the head. 2010-12-30T02:30:14Z SNOMEDCT_US:35547002 UMLS:C0266611 human_phenotype HP:0100687 Polyotia HP:0100687 The presence of an extra auricle on one or both sides of the head. https://orcid.org/0009-0006-4530-3154 true HP:0100688 A decreased anteroposterior thickness of the cornea. 2011-02-18T04:40:41Z SNOMEDCT_US:423459005 UMLS:C1096274 Thin cornea human_phenotype HP:0100689 Decreased corneal thickness HP:0100689 A decreased anteroposterior thickness of the cornea. https://orcid.org/0000-0001-8727-6592 Thin cornea 2011-02-18T04:52:59Z UMLS:C4021996 human_phenotype HP:0100690 Mosaic central corneal dystrophy HP:0100690 2011-02-18T04:58:48Z UMLS:C4021995 human_phenotype HP:0100691 Abnormality of the curvature of the cornea HP:0100691 An increase in the degree of curvature of the cornea compared to normal. 2011-02-18T05:01:31Z UMLS:C4020956 Steep corneal curvature human_phenotype HP:0100692 Increased corneal curvature HP:0100692 An increase in the degree of curvature of the cornea compared to normal. HPO_CONTRIBUTOR:DDD_ncarter Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. 2011-02-18T05:11:16Z SNOMEDCT_US:118166004 UMLS:C0423320 human_phenotype HP:0100693 Iridodonesis HP:0100693 Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. https://orcid.org/0009-0006-4530-3154 Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. 2011-03-28T05:04:08Z SNOMEDCT_US:249785006 UMLS:C0426900 human_phenotype HP:0100694 Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions. Tibial torsion HP:0100694 Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. https://orcid.org/0009-0006-4530-3154 Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . 2011-03-28T04:43:32Z SNOMEDCT_US:234102003 UMLS:C0398370 human_phenotype HP:0100695 The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles. Lipedema HP:0100695 Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise . https://orcid.org/0009-0006-4530-3154 true HP:0100696 Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. 2011-03-29T11:40:44Z NCIT:C3798 SNOMEDCT_US:19897006 SNOMEDCT_US:404037002 SNOMEDCT_US:77418004 UMLS:C0206729 UMLS:C0751690 Malignant peripheral nerve sheath tumour Malignant schwannoma Neurofibrosarcoma human_phenotype HP:0100697 About half the cases are diagnosed in people with neurofibromatosis. Malignant peripheral nerve sheath tumor HP:0100697 Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. PMID:35053663 https://orcid.org/0009-0006-4530-3154 Malignant peripheral nerve sheath tumour A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region). 2011-03-29T12:03:47Z SNOMEDCT_US:425327002 UMLS:C1827970 human_phenotype HP:0100698 Subcutaneous neurofibroma HP:0100698 A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region). https://orcid.org/0009-0006-4530-3154 A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed. 2011-03-29T06:39:56Z SNOMEDCT_US:48677004 UMLS:C0008767 Scarring human_phenotype Scar tissue HP:0100699 Scarring HP:0100699 Scarring Scar tissue An abnormality of the Arachnoid mater. 2011-03-31T12:43:27Z UMLS:C4020955 Abnormality of the arachnoid mater Abnormality of the arachnoidea human_phenotype HP:0100700 Abnormal arachnoid mater morphology HP:0100700 An abnormality of the Arachnoid mater. https://orcid.org/0009-0006-4530-3154 An abnormality of the pia mater. 2011-03-31T12:44:41Z UMLS:C4021994 Abnormality of the pia mater human_phenotype HP:0100701 Abnormal pia mater HP:0100701 An abnormality of the pia mater. https://orcid.org/0009-0006-4530-3154 An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. 2011-03-31T12:46:59Z SNOMEDCT_US:33595009 UMLS:C0078981 Fluid-filled sac located in membrane surrounding brain or spinal cord human_phenotype Arachnoid cysts HP:0100702 Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. Arachnoid cyst HP:0100702 An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. https://orcid.org/0009-0006-4530-3154 Fluid-filled sac located in membrane surrounding brain or spinal cord https://orcid.org/0000-0002-6548-5200 Arachnoid cysts https://orcid.org/0000-0002-5316-1399 Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns 2011-03-31T12:54:41Z SNOMEDCT_US:110343009 SNOMEDCT_US:424583005 UMLS:C1829460 human_phenotype HP:0100703 Tongue thrusting HP:0100703 Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns PMID:34413610 A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. 2011-03-31T01:03:21Z HP:0000595 SNOMEDCT_US:413924001 SNOMEDCT_US:68574006 UMLS:C0155320 UMLS:C4048268 CVI Cortical blindness Cortical visual impairment Cortical/cerebral visual impairment human_phenotype HP:0100704 The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation. Cerebral visual impairment HP:0100704 A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. PMID:28082927 https://orcid.org/0000-0002-0736-9199 CVI An abnormality of the glia cell. 2011-04-03T02:33:49Z UMLS:C4021993 Abnormality of the glial cells human_phenotype HP:0100705 Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons. Abnormal glial cell morphology HP:0100705 An abnormality of the glia cell. https://orcid.org/0000-0002-0736-9199 One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. 2011-04-03T02:34:15Z UMLS:C4021992 Abnormality of the oligodendroglia human_phenotype HP:0100706 Abnormal oligodendroglia morphology HP:0100706 One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers. https://orcid.org/0009-0006-4530-3154 An abnormality of astrocytes. 2011-04-03T02:36:46Z UMLS:C4021991 Abnormality of the astrocytes human_phenotype HP:0100707 Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system. Abnormal astrocyte morphology HP:0100707 An abnormality of astrocytes. https://orcid.org/0000-0002-0736-9199 An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells. 2011-04-03T02:37:09Z UMLS:C4021990 Abnormality of the microglia human_phenotype HP:0100708 Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system. Abnormal microglia morphology HP:0100708 An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells. https://orcid.org/0000-0002-0736-9199 2011-04-03T02:39:50Z UMLS:C4021852 human_phenotype HP:0100709 Reduction of oligodendroglia HP:0100709 Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. 2011-04-07T05:36:16Z UMLS:C0021125 Impulsive Impulsivity human_phenotype HP:0100710 Impulsivity HP:0100710 Impulsive https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Impulsivity https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 An abnormality of the thoracic vertebral column. 2011-05-05T09:37:17Z UMLS:C4021989 Abnormality of the thoracic spine human_phenotype HP:0100711 Abnormal thoracic spine morphology HP:0100711 An abnormality of the thoracic vertebral column. https://orcid.org/0000-0002-0736-9199 Any structural abnormality of the lumbar vertebral column. 2011-05-05T09:37:33Z UMLS:C4021988 Abnormality of the lumbar spine human_phenotype HP:0100712 Abnormal lumbar spine morphology HP:0100712 Any structural abnormality of the lumbar vertebral column. https://orcid.org/0000-0002-0736-9199 true HP:0100713 true HP:0100714 true HP:0100715 Self-aggression. 2011-05-16T06:47:54Z SNOMEDCT_US:248062006 UMLS:C0085271 Autoagression Self injury Self-harm Self-injurious behavior Self-injurious behaviors Self-injurious behaviours human_phenotype HP:0100716 All of these actions can be impulsive, compulsive, or planned. Self-injurious behavior HP:0100716 Self-injurious behavior Self-injurious behaviours Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). 2011-06-06T01:33:28Z UMLS:C4021987 Abnormality of the cementum human_phenotype HP:0100717 Abnormal cementum morphology HP:0100717 Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root). PMID:31468724 2011-06-06T01:49:29Z SNOMEDCT_US:34430009 UMLS:C0042143 human_phenotype HP:0100718 Uterine rupture HP:0100718 A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. 2011-06-06T02:16:53Z SNOMEDCT_US:204134008 UMLS:C0344516 human_phenotype HP:0100719 Lens coloboma HP:0100719 A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. https://orcid.org/0000-0002-0736-9199 2011-06-06T02:17:54Z UMLS:C4021986 Underdeveloped ear cartilage human_phenotype HP:0100720 Hypoplasia of the ear cartilage HP:0100720 Underdeveloped ear cartilage https://orcid.org/0000-0001-5208-3432 Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. 2011-06-06T02:26:55Z SNOMEDCT_US:52324001 UMLS:C0520743 Swollen lymph nodes in center of chest Swollen lymph nodes in centre of chest human_phenotype HP:0100721 Mediastinal lymphadenopathy HP:0100721 Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. https://orcid.org/0000-0002-0736-9199 Swollen lymph nodes in center of chest https://orcid.org/0000-0002-6548-5200 Swollen lymph nodes in centre of chest true HP:0100722 2011-06-06T02:49:58Z SNOMEDCT_US:128755003 SNOMEDCT_US:420120006 UMLS:C0238198 GI stroma tumor GI stroma tumour GIST Gastrointestinal stroma tumour Gastrointestinal stromal tumor Gastrointestinal stromal tumour human_phenotype Gastrointestinal stromal tumors Gastrointestinal stromal tumours HP:0100723 Gastrointestinal stroma tumor HP:0100723 GI stroma tumor GI stroma tumour GIST https://orcid.org/0000-0002-5316-1399 Gastrointestinal stroma tumour Gastrointestinal stromal tumour Gastrointestinal stromal tumors https://orcid.org/0000-0002-5316-1399 Gastrointestinal stromal tumours An abnormality of coagulation associated with an increased risk of thrombosis. 2011-06-06T04:04:38Z SNOMEDCT_US:234467004 SNOMEDCT_US:76612001 UMLS:C0398623 Blood hyperviscosity Thrombophilia human_phenotype HP:0100724 Hypercoagulability HP:0100724 An abnormality of coagulation associated with an increased risk of thrombosis. https://orcid.org/0000-0002-0736-9199 Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. 2011-06-06T04:18:53Z SNOMEDCT_US:19940005 SNOMEDCT_US:402237006 UMLS:C0023653 human_phenotype HP:0100725 Lichenification HP:0100725 Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. https://orcid.org/0000-0002-0736-9199 A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). 2011-06-06T04:33:09Z SNOMEDCT_US:109385007 SNOMEDCT_US:49937004 UMLS:C0036220 human_phenotype HP:0100726 Kaposi's sarcoma HP:0100726 A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). https://orcid.org/0009-0006-4530-3154 An excessive number of histiocytes (tissue macrophages). 2011-06-06T04:43:05Z SNOMEDCT_US:60657004 SNOMEDCT_US:65396000 UMLS:C0019618 human_phenotype HP:0100727 Histiocytosis HP:0100727 An excessive number of histiocytes (tissue macrophages). https://orcid.org/0009-0006-4530-3154 2011-06-06T04:46:36Z NCIT:C3708 UMLS:C4021985 human_phenotype HP:0100728 Germ cell neoplasia HP:0100728 2011-06-06T04:50:47Z UMLS:C2748652 Big face Large face Large facies human_phenotype HP:0100729 Large face HP:0100729 Big face https://orcid.org/0000-0001-5889-4463 Large face Large facies https://orcid.org/0000-0001-5889-4463 A rare congenital cystic lesion of the lungs in the mediastinum. 2011-06-06T05:01:27Z SNOMEDCT_US:268194008 SNOMEDCT_US:9550003 UMLS:C0006281 human_phenotype HP:0100730 Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops. Bronchogenic cyst HP:0100730 A rare congenital cystic lesion of the lungs in the mediastinum. PMID:24605255 https://orcid.org/0009-0006-4530-3154 A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. 2011-06-06T05:03:42Z UMLS:C4020954 Lateral facial cleft human_phenotype HP:0100731 Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. Transverse facial cleft HP:0100731 A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. HPO_CONTRIBUTOR:DDD_jhurst 2011-06-06T05:06:26Z SNOMEDCT_US:25942009 UMLS:C0267952 human_phenotype HP:0100732 Pancreatic fibrosis HP:0100732 A tumor (abnormal growth of tissue) of the parathyroid gland. 2011-06-06T05:09:38Z NCIT:C3262 SNOMEDCT_US:127020005 UMLS:C0030521 Parathyroid neoplasia human_phenotype HP:0100733 Neoplasm of the parathyroid gland HP:0100733 A tumor (abnormal growth of tissue) of the parathyroid gland. https://orcid.org/0000-0002-0736-9199 An anomaly of one or more epiphyses of one or more vertebrae. 2011-06-06T05:13:08Z UMLS:C4020953 Abnormal shape of the end part of the vertebra bone Abnormality of the vertebral epiphyses Abnormality of vertebral epiphysis morphology human_phenotype HP:0100734 Abnormal vertebral epiphysis morphology HP:0100734 Abnormal shape of the end part of the vertebra bone https://orcid.org/0000-0001-5208-3432 2011-06-06T05:38:31Z SNOMEDCT_US:706882009 UMLS:C0020546 human_phenotype HP:0100735 Hypertensive crisis HP:0100735 An abnormality of the soft palate. 2011-06-06T05:41:48Z UMLS:C4021984 Abnormality of the muscular palate Abnormality of the soft palate Abnormality of the velum Abnormality of the velum palatinum human_phenotype HP:0100736 Abnormal soft palate morphology HP:0100736 An abnormality of the soft palate. https://orcid.org/0000-0002-0736-9199 Abnormality of the muscular palate https://orcid.org/0000-0001-5889-4463 Abnormality of the velum https://orcid.org/0000-0001-5889-4463 Abnormality of the velum palatinum https://orcid.org/0000-0002-5316-1399 2011-06-06T05:42:10Z Abnormality of the secondary palate UMLS:C4021983 Abnormality of the hard palate human_phenotype HP:0100737 Abnormal hard palate morphology HP:0100737 Abnormality of the secondary palate https://orcid.org/0000-0001-5889-4463 Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption. 2011-06-06T05:54:51Z UMLS:C4021982 Abnormal eating behavior Abnormal eating behaviour human_phenotype HP:0100738 Please note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder. An eating disorder is a psychological disorder characterized by one or more abnormal eating behaviors. Abnormal eating behavior HP:0100738 Abnormal eating behavior Abnormal eating behaviour A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). 2011-06-06T05:55:43Z SNOMEDCT_US:78004001 UMLS:C0006370 Binge and purge human_phenotype HP:0100739 Bulimia HP:0100739 A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). PMID:23346610 https://orcid.org/0000-0002-0736-9199 Binge and purge https://orcid.org/0000-0001-5208-3432 true HP:0100740 true HP:0100741 A benign or malignant neoplasm (tumor) originating in the vascular system. 2011-06-06T06:08:26Z NCIT:C3262 SNOMEDCT_US:115235003 SNOMEDCT_US:126736007 SNOMEDCT_US:699605009 UMLS:C0027668 UMLS:C0282607 Blood vessel tumor Blood vessel tumour human_phenotype HP:0100742 Vascular neoplasm HP:0100742 A benign or malignant neoplasm (tumor) originating in the vascular system. https://orcid.org/0000-0002-0736-9199 Blood vessel tumor https://orcid.org/0000-0001-5208-3432 Blood vessel tumour 2011-06-06T06:20:18Z NCIT:C3262 SNOMEDCT_US:126847008 UMLS:C0034885 Rectal tumor Rectal tumour human_phenotype HP:0100743 Neoplasm of the rectum HP:0100743 Rectal tumor https://orcid.org/0000-0001-5208-3432 Rectal tumour 2011-06-06T06:24:45Z UMLS:C4021981 human_phenotype HP:0100744 Abnormality of the humeroradial joint HP:0100744 An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. 2011-06-06T06:25:05Z UMLS:C4021980 human_phenotype HP:0100745 Abnormality of the humeroulnar joint HP:0100745 An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint. https://orcid.org/0000-0002-0736-9199 A type of Macrodactyly affecting one or several fingers. 2011-06-06T06:29:55Z SNOMEDCT_US:297195000 UMLS:C0574044 Macrodactyly of hands human_phenotype HP:0100746 Macrodactyly of finger HP:0100746 A type of Macrodactyly affecting one or several fingers. https://orcid.org/0000-0002-0736-9199 A type of Macrodactyly affecting one or several toes. 2011-06-06T06:29:55Z UMLS:C2931596 Foot macrodactyly human_phenotype HP:0100747 Macrodactyly of toe HP:0100747 A type of Macrodactyly affecting one or several toes. https://orcid.org/0000-0002-0736-9199 2011-06-06T06:31:20Z UMLS:C4021979 Muscular oedema human_phenotype HP:0100748 Muscular edema HP:0100748 Muscular oedema An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. 2011-06-06T06:36:48Z SNOMEDCT_US:29857009 UMLS:C0008031 Chest pain Thoracic pain human_phenotype Chest discomfort HP:0100749 Chest pain HP:0100749 Chest pain Collapse of part of a lung associated with absence of inflation (air) of that part. 2011-06-06T06:38:53Z SNOMEDCT_US:46621007 UMLS:C0004144 Partial or complete collapse of part or entire lung Pulmonary atelectasis human_phenotype HP:0100750 Atelectasis HP:0100750 Collapse of part of a lung associated with absence of inflation (air) of that part. https://orcid.org/0000-0002-0736-9199 Partial or complete collapse of part or entire lung https://orcid.org/0000-0002-6548-5200 A tumor (abnormal growth of tissue) of the esophagus. 2011-06-06T06:44:54Z NCIT:C3262 SNOMEDCT_US:126817006 UMLS:C0014859 Esophageal tumor Esophageal tumour human_phenotype HP:0100751 Esophageal neoplasm HP:0100751 Esophageal tumor https://orcid.org/0000-0001-5208-3432 Esophageal tumour Formation of abnormal lobules (small masses of tissue) in the liver. 2011-06-06T06:47:05Z SNOMEDCT_US:253811003 UMLS:C0345286 Anomalous liver lobulation Hepatic anomalous lobulation Liver lobation abnormal human_phenotype HP:0100752 Abnormal liver lobulation HP:0100752 Formation of abnormal lobules (small masses of tissue) in the liver. https://orcid.org/0000-0002-0736-9199 A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. 2011-06-07T09:53:08Z SNOMEDCT_US:191526005 SNOMEDCT_US:58214004 UMLS:C0036341 human_phenotype HP:0100753 Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors. Schizophrenia HP:0100753 A state of abnormally elevated or irritable mood, arousal, and/or energy levels. 2011-06-07T09:54:05Z SNOMEDCT_US:231494001 UMLS:C0338831 Hypomania Hypomanic Manic human_phenotype HP:0100754 Mania HP:0100754 Manic 2011-06-07T10:01:04Z UMLS:C4021978 Abnormal spit Abnormality of salivation human_phenotype HP:0100755 Abnormality of salivation HP:0100755 Abnormal spit https://orcid.org/0000-0001-5889-4463 Abnormality of salivation true HP:0100756 A rare pediatric carcinoma of the pancreas. 2011-06-07T10:05:52Z SNOMEDCT_US:53618008 UMLS:C0334489 human_phenotype HP:0100757 Pancreatoblastoma HP:0100757 A rare pediatric carcinoma of the pancreas. https://orcid.org/0009-0006-4530-3154 A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). 2011-06-07T10:19:11Z SNOMEDCT_US:36024000 SNOMEDCT_US:372070002 UMLS:C0017086 Death of body tissue due to lack of blood flow or infection human_phenotype HP:0100758 This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. Gangrene HP:0100758 A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). ISBN:9780781770873 Death of body tissue due to lack of blood flow or infection https://orcid.org/0000-0002-6548-5200 Terminal broadening of the fingers (distal phalanges of the fingers). 2011-06-07T10:25:26Z MEDDRA:10016680 SNOMEDCT_US:30760008 UMLS:C0009080 Clubbed fingers Clubbing (hands) Clubbing of fingers Finger clubbing human_phenotype HP:0100759 Clubbing of fingers HP:0100759 Terminal broadening of the fingers (distal phalanges of the fingers). https://orcid.org/0009-0006-4530-3154 MEDDRA:10016680 Finger clubbing Clubbed fingers Clubbing (hands) Clubbing of fingers Finger clubbing Terminal broadening of the toes (distal phalanges of the toes). 2011-06-07T10:25:26Z SNOMEDCT_US:249808002 SNOMEDCT_US:397932003 SNOMEDCT_US:53148007 UMLS:C0009081 UMLS:C3887489 human_phenotype Clubbed toes HP:0100760 Clubbing of toes HP:0100760 Terminal broadening of the toes (distal phalanges of the toes). https://orcid.org/0009-0006-4530-3154 Clubbed toes 2011-06-07T10:33:09Z UMLS:C4021977 human_phenotype HP:0100761 Visceral angiomatosis HP:0100761 Bleeding into the biliary tree. 2011-06-07T10:36:09Z SNOMEDCT_US:66556007 UMLS:C0018994 Haemobilia human_phenotype HP:0100762 Hemobilia HP:0100762 Bleeding into the biliary tree. https://orcid.org/0009-0006-4530-3154 An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. 2011-06-07T10:40:36Z HP:0003012 SNOMEDCT_US:111590001 SNOMEDCT_US:234087005 SNOMEDCT_US:3305006 SNOMEDCT_US:362971004 UMLS:C0024228 UMLS:C4021976 human_phenotype Lymphatic disease HP:0100763 Abnormality of the lymphatic system HP:0100763 An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. https://orcid.org/0000-0002-0736-9199 Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. 2011-06-07T10:41:13Z NCIT:C8965 SNOMEDCT_US:253057002 SNOMEDCT_US:254836000 SNOMEDCT_US:400178008 SNOMEDCT_US:69044001 UMLS:C0024221 human_phenotype HP:0100764 Lymphangioma HP:0100764 Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. PMID:12376602 https://orcid.org/0000-0002-0736-9199 An abnormality of the tonsils. 2011-06-07T10:43:35Z UMLS:C4021975 human_phenotype HP:0100765 Abnormality of the tonsils HP:0100765 An abnormality of the tonsils. https://orcid.org/0000-0002-0736-9199 A structural anomaly of the vessel that contains or conveys lymph fluid. 2011-06-07T10:44:54Z UMLS:C4021974 Abnormality of the lymphatic vessels human_phenotype HP:0100766 Abnormal lymphatic vessel morphology HP:0100766 A structural anomaly of the vessel that contains or conveys lymph fluid. https://en.wikipedia.org/wiki/Lymphatic_vessel An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. 2011-06-07T11:03:03Z SNOMEDCT_US:169957005 SNOMEDCT_US:33552005 UMLS:C1306893 Abnormality of the placenta Placental issue human_phenotype HP:0100767 The placenta is a fetomaternal organ. The fetal portion of the placenta is the villous chorion and the maternal portion is the decidua basalis. The two portions are connected by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. Abnormal placenta morphology HP:0100767 An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. https://orcid.org/0000-0002-0736-9199 Placental issue A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. 2011-06-07T11:05:40Z SNOMEDCT_US:188188009 SNOMEDCT_US:44769000 UMLS:C0008497 human_phenotype HP:0100768 Choriocarcinoma HP:0100768 A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. https://orcid.org/0009-0006-4530-3154 2011-06-07T11:45:59Z SNOMEDCT_US:416209007 UMLS:C0039103 human_phenotype HP:0100769 Synovitis HP:0100769 Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. 2011-06-07T11:53:08Z Stomach churning SNOMEDCT_US:271838002 SNOMEDCT_US:80306002 UMLS:C0232474 UMLS:C0857071 human_phenotype HP:0100770 Hyperperistalsis HP:0100770 Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. https://orcid.org/0000-0002-0736-9199 Stomach churning http://www.healthhype.com/stomach-churning-sensation-feeling-causes-remedies.html https://orcid.org/0000-0001-5208-3432 Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. 2011-06-07T11:53:08Z SNOMEDCT_US:77853002 UMLS:C0232475 UMLS:C4020700 human_phenotype Intestinal hypoperistalsis HP:0100771 Hypoperistalsis HP:0100771 Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. https://orcid.org/0000-0002-0736-9199 Intestinal hypoperistalsis https://orcid.org/0000-0002-5316-1399 true HP:0100772 2011-06-07T05:13:50Z UMLS:C4021973 Cartilage destruction human_phenotype HP:0100773 Cartilage destruction HP:0100773 Cartilage destruction Excessive growth or abnormal thickening of bone tissue. 2011-06-07T05:17:19Z SNOMEDCT_US:13814009 SNOMEDCT_US:203514008 UMLS:C0020492 Bone Hypertrophy Bone overgrowth human_phenotype HP:0100774 Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). Hyperostosis HP:0100774 Excessive growth or abnormal thickening of bone tissue. https://orcid.org/0000-0002-0736-9199 Bone overgrowth https://orcid.org/0000-0001-5208-3432 A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. 2011-06-07T05:22:13Z UMLS:C1851712 human_phenotype HP:0100775 Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. Dural ectasia HP:0100775 A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. https://orcid.org/0009-0006-4530-3154 Increased susceptibility to pharyngitis, as manifested by recurrent episodes of pharyngeal infection that are unusual in frequency or severity for a healthy individual of the same age. 2011-06-07T05:28:27Z UMLS:C0747556 Chronic pharyngitis Persistent pharyngitis Pharyngitis, recurrent Recurrent sore throat human_phenotype HP:0100776 Recurrent pharyngitis HP:0100776 Recurrent sore throat https://orcid.org/0000-0001-5889-4463 An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. 2011-06-07T05:34:49Z SNOMEDCT_US:416189003 SNOMEDCT_US:80400009 UMLS:C1442903 Formation of new noncancerous bone on top of existing bone human_phenotype HP:0100777 Exostoses HP:0100777 An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. https://orcid.org/0000-0002-0736-9199 Formation of new noncancerous bone on top of existing bone https://orcid.org/0000-0002-6548-5200 Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. 2011-06-07T05:42:38Z SNOMEDCT_US:30911005 UMLS:C0010403 Cryoprecipitable immune complexes human_phenotype HP:0100778 Cryoglobulinemia HP:0100778 Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. https://orcid.org/0000-0002-0736-9199 A rare birth defect in women where the urethra and vagina both open into a common channel. 2011-06-07T05:45:10Z UMLS:C4021972 human_phenotype HP:0100779 Urogenital sinus anomaly HP:0100779 A rare birth defect in women where the urethra and vagina both open into a common channel. https://orcid.org/0000-0002-0736-9199 A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. 2011-06-07T05:50:21Z UMLS:C4021849 human_phenotype HP:0100780 Conjunctival hamartoma HP:0100780 A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. https://orcid.org/0000-0002-0736-9199 An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). 2011-06-07T05:52:24Z UMLS:C0262621 Abnormality of the sacroiliac joint human_phenotype HP:0100781 The sacroiliac joint (SIJ) is a true diarthrodial joint: matching articular surfaces separated by a joint space containing synovial fluid and enveloped by a fibrous capsule. It does, however, have unique characteristics not typically found in other diarthrodial joints. The SIJ has fibrocartilage in addition to hyaline cartilage. There is discontinuity of the posterior capsule. Rather than being smooth, the articular surfaces have many ridges and depressions that minimize movement and enhance stability. Primary stability, however, is attributed to the many adjacent ligaments. Abnormal sacroiliac joint morphology HP:0100781 An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). PMID:16700283 https://orcid.org/0000-0002-0736-9199 true HP:0100782 Failure to develop and congenital absence of the breast. 2011-06-07T06:02:34Z SNOMEDCT_US:111324004 UMLS:C0266009 Absent breast Congenital absence of breast Mammary gland aplasia human_phenotype HP:0100783 Breast aplasia HP:0100783 Absent breast 2011-06-07T06:03:29Z UMLS:C4021971 human_phenotype HP:0100784 Peripheral arteriovenous fistula HP:0100784 Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. 2011-06-07T06:14:22Z SNOMEDCT_US:193462001 UMLS:C0917801 Difficulty staying or falling asleep Inability to sleep human_phenotype HP:0100785 The individual subjectively reports the inability to sleep, which may manifest as prolonged sleep latency, frequent awakenings, or premature morning awakening. This phenomenon is often linked or associated with distress, reduced daytime functioning, or dissatisfaction with sleep. Insomnia HP:0100785 Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adequate opportunities and conditions for sleep. PMID:36115372 Difficulty staying or falling asleep https://orcid.org/0000-0002-6548-5200 HP:0001262 2011-06-07T06:15:07Z human_phenotype HP:0100786 obsolete Hypersomnia true HP:0100786 2011-06-07T06:29:49Z SNOMEDCT_US:126906006 UMLS:C0033578 human_phenotype HP:0100787 Prostate neoplasm HP:0100787 Lack of separation of the upper and lower lips. 2011-06-08T02:16:16Z UMLS:C4021970 Adhesion of upper and lower lips Fused lips Fusion of upper and lower lips human_phenotype HP:0100788 Fused lips HP:0100788 Lack of separation of the upper and lower lips. https://orcid.org/0000-0002-0736-9199 Adhesion of upper and lower lips https://orcid.org/0000-0001-5889-4463 Fused lips Fusion of upper and lower lips https://orcid.org/0000-0001-5889-4463 A bony protrusion present on the midline of the hard palate. 2011-06-08T02:28:48Z Maxillary torus SNOMEDCT_US:244683008 SNOMEDCT_US:46752004 SNOMEDCT_US:697945009 UMLS:C0266981 UMLS:C0447996 UMLS:C1840236 Palatal tori Palatal torus Palate exostoses human_phenotype Prominent midpalatal ridge HP:0100789 Torus palatinus HP:0100789 A bony protrusion present on the midline of the hard palate. https://orcid.org/0009-0006-4530-3154 Maxillary torus https://orcid.org/0000-0001-5889-4463 Palatal tori https://orcid.org/0000-0001-5889-4463 Palatal torus https://orcid.org/0000-0001-5889-4463 Prominent midpalatal ridge https://orcid.org/0000-0002-5316-1399 2011-06-08T02:33:37Z SNOMEDCT_US:414403008 SNOMEDCT_US:52515009 UMLS:C0019270 human_phenotype Hernias HP:0100790 Hernia HP:0100790 Hernias https://orcid.org/0000-0002-5316-1399 true HP:0100791 The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. 2011-06-08T03:22:24Z SNOMEDCT_US:43327007 SNOMEDCT_US:441837004 UMLS:C0000887 UMLS:C0241128 human_phenotype Nikolsky's sign HP:0100792 Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer. Acantholysis HP:0100792 The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. https://orcid.org/0009-0006-4530-3154 true HP:0100793 true HP:0100794 The absence of the normal curvature of the vertebral column. 2011-06-08T03:52:57Z UMLS:C4021969 Abnormally straight spine human_phenotype HP:0100795 Abnormally straight spine HP:0100795 The absence of the normal curvature of the vertebral column. https://orcid.org/0009-0006-4530-3154 Abnormally straight spine Testicular inflammation. 2011-06-08T04:18:06Z SNOMEDCT_US:274718005 UMLS:C0029191 Inflammation of testicles human_phenotype HP:0100796 Orchitis HP:0100796 Testicular inflammation. https://orcid.org/0009-0006-4530-3154 Inflammation of testicles https://orcid.org/0000-0001-5208-3432 An abnormality of the development of the toenails. 2011-06-08T04:23:37Z UMLS:C3276623 Abnormal toenail development Dysplastic toenails human_phenotype HP:0100797 Toenail dysplasia HP:0100797 An abnormality of the development of the toenails. https://orcid.org/0000-0002-0736-9199 Abnormal toenail development https://orcid.org/0000-0001-5208-3432 An abnormality of the development of the fingernails. 2011-06-08T04:23:53Z UMLS:C4020952 Abnormal fingernail development Dysplastic fingernails human_phenotype HP:0100798 If possible, a more precise term should be chosen for annotation. Fingernail dysplasia HP:0100798 An abnormality of the development of the fingernails. https://orcid.org/0000-0002-0736-9199 Abnormal fingernail development https://orcid.org/0000-0001-5208-3432 A tumor (abnormal growth of tissue) of the middle ear. 2011-06-08T04:25:43Z NCIT:C3262 SNOMEDCT_US:127006003 UMLS:C0345617 Middle ear tumor Middle ear tumour Neoplasia of the middle ear human_phenotype HP:0100799 Neoplasm of the middle ear HP:0100799 A tumor (abnormal growth of tissue) of the middle ear. https://orcid.org/0000-0002-0736-9199 Middle ear tumor https://orcid.org/0000-0001-5208-3432 Middle ear tumour A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. 2011-06-09T11:45:58Z UMLS:C4021968 Absent/small pancreas Absent/underdeveloped pancreas human_phenotype HP:0100800 Aplasia/Hypoplasia of the pancreas HP:0100800 A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. https://orcid.org/0009-0006-4530-3154 Absent/small pancreas https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped pancreas https://orcid.org/0000-0001-5208-3432 Aplasia of the pancreas. 2011-06-09T11:46:59Z UMLS:C4021967 Absent pancreas human_phenotype HP:0100801 Pancreatic aplasia HP:0100801 Aplasia of the pancreas. https://orcid.org/0009-0006-4530-3154 Absent pancreas https://orcid.org/0000-0001-5208-3432 Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. 2011-06-09T11:52:49Z UMLS:C1402983 Abnormal stomach location Gastric ectopia Gastric malposition human_phenotype HP:0100802 Malposition of the stomach HP:0100802 Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. PMID:16465538 https://orcid.org/0000-0002-0736-9199 Abnormal stomach location https://orcid.org/0000-0001-5208-3432 An abnormality of the region around the nails of the fingers or toes. 2011-06-09T11:59:15Z UMLS:C4021966 Abnormality of the periungual region human_phenotype HP:0100803 The nailfold denotes the folds of skin that frame the nail plate in the periungual region. Abnormal periungual morphology HP:0100803 An abnormality of the region around the nails of the fingers or toes. https://orcid.org/0000-0002-0736-9199 Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). 2011-06-09T11:59:55Z SNOMEDCT_US:264561009 UMLS:C0442880 Koenen tumor Koenen tumour Koenen's tumor Koenen's tumour Parungual fibromas Periungual fibroma human_phenotype HP:0100804 Ungual fibromas are characteristic of tuberous sclerosis. Ungual fibroma HP:0100804 Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). PMID:18815399 https://orcid.org/0000-0002-0736-9199 Koenen tumour Koenen's tumour HP:0008209 human_phenotype HP:0100805 obsolete Precocious menopause true HP:0100805 Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. 2011-06-09T01:05:51Z UMLS:C0036690 Infection in blood stream human_phenotype HP:0100806 For clinical operationalization, organ dysfunction can be represented by an increase in the Sequential Sepsis-related Organ Failure Assessment (SOFA) score of 2 points or more. Sepsis HP:0100806 Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. PMID:26903338 https://orcid.org/0000-0002-0736-9199 Infection in blood stream https://orcid.org/0000-0002-6548-5200 The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. 2011-06-09T01:13:15Z HP:0006010 UMLS:C1858091 Long fingers human_phenotype HP:0100807 Long fingers HP:0100807 The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. PMID:19125433 Long fingers An outpouching of the gastric wall. 2011-06-09T01:43:31Z SNOMEDCT_US:75198005 UMLS:C0038355 Stomach diverticulum human_phenotype HP:0100808 Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation. Gastric diverticulum HP:0100808 An outpouching of the gastric wall. PMID:22257431 https://orcid.org/0000-0002-0736-9199 Pain or discomfort of the scalp elicited by palpation. 2011-06-09T01:46:12Z Scalp pain MEDDRA:10039521 SNOMEDCT_US:75851004 UMLS:C0151206 UMLS:C0240940 UMLS:C4073183 Scalp hypersensitivity Scalp tenderness Allodynia of scalp human_phenotype HP:0100809 Scalp tenderness HP:0100809 Pain or discomfort of the scalp elicited by palpation. https://orcid.org/0000-0002-0736-9199 Scalp pain https://orcid.org/0000-0001-5889-4463 MEDDRA:10039521 Scalp tenderness Scalp tenderness Allodynia of scalp https://orcid.org/0000-0001-5889-4463 2011-06-09T01:51:46Z Pointed ear UMLS:C4020951 Elfin ear Spock ear Spock's ear Vulcan ear human_phenotype HP:0100810 Pointed helix HP:0100810 Pointed ear https://orcid.org/0000-0001-5208-3432 Spock's ear https://orcid.org/0000-0001-5208-3432 Congenital absence or underdevelopment of the colon. 2011-06-09T01:54:57Z UMLS:C4021964 Absent/small colon Absent/underdeveloped colon human_phenotype HP:0100811 Aplasia/Hypoplasia of the colon HP:0100811 Congenital absence or underdevelopment of the colon. https://orcid.org/0000-0002-0736-9199 Absent/small colon https://orcid.org/0000-0001-5208-3432 Absent/underdeveloped colon https://orcid.org/0000-0001-5208-3432 Noticeably unpleasant odors exhaled in breathing. 2011-06-09T02:00:42Z MEDDRA:10006326 SNOMEDCT_US:79879001 UMLS:C0018520 Bad breath Foetor ex ore human_phenotype HP:0100812 Halitosis HP:0100812 Noticeably unpleasant odors exhaled in breathing. https://orcid.org/0009-0006-4530-3154 MEDDRA:10006326 Breath odor Bad breath Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. 2011-06-09T02:03:12Z SNOMEDCT_US:49198006 SNOMEDCT_US:81996005 UMLS:C0037856 Spermatic cord torsion human_phenotype HP:0100813 Many of the symptoms of testicular torsion are similar to the infection epididymitis. Testicular torsion HP:0100813 Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. https://orcid.org/0009-0006-4530-3154 A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. 2011-06-09T02:15:28Z human_phenotype Congenital dermal melanocytosis HP:0100814 Blue nevus HP:0100814 true HP:0100815 2011-06-09T02:18:39Z UMLS:C4021963 Darkening of skin of the lips Hyperpigmentation of lip vermillion Increased pigmentation on the lips human_phenotype HP:0100816 Lip hyperpigmentation HP:0100816 Darkening of skin of the lips https://orcid.org/0000-0001-5889-4463 Hyperpigmentation of lip vermillion https://orcid.org/0000-0001-5889-4463 Increased pigmentation on the lips https://orcid.org/0000-0001-5889-4463 The presence of hypertension related to stenosis of the renal artery. 2011-06-09T04:48:35Z HP:0008741 SNOMEDCT_US:123799005 UMLS:C0020545 Hypertension due to renal artery hyperplasia human_phenotype HP:0100817 Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. Renovascular hypertension HP:0100817 The presence of hypertension related to stenosis of the renal artery. https://orcid.org/0000-0002-0736-9199 Increased inferior to superior extent of the thorax. 2011-06-09T04:51:15Z SNOMEDCT_US:298710001 UMLS:C0575484 Long rib cage human_phenotype HP:0100818 Long thorax HP:0100818 Increased inferior to superior extent of the thorax. https://orcid.org/0000-0002-0736-9199 Long rib cage https://orcid.org/0000-0001-5208-3432 An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. 2011-06-09T04:57:15Z MEDDRA:10022647 SNOMEDCT_US:38851006 UMLS:C0021833 human_phenotype HP:0100819 Intestinal fistula HP:0100819 An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. https://orcid.org/0000-0002-0736-9199 MEDDRA:10022647 Intestinal fistula Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. 2011-06-09T04:59:55Z HP:0008636 SNOMEDCT_US:197679002 UMLS:C0268731 Diseased glomeruli human_phenotype HP:0100820 Glomerulopathy HP:0100820 Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. https://orcid.org/0009-0006-4530-3154 Diseased glomeruli https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 The prolapse of the female urethra into the vagina. 2011-06-09T05:06:51Z ICD-9:618.03 SNOMEDCT_US:12068006 UMLS:C0238502 human_phenotype HP:0100821 Urethrocele HP:0100821 The prolapse of the female urethra into the vagina. https://orcid.org/0009-0006-4530-3154 A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. 2011-06-09T05:07:41Z ICD-9:618.04 SNOMEDCT_US:447072005 SNOMEDCT_US:62730001 UMLS:C0149771 human_phenotype HP:0100822 Rectocele HP:0100822 A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy. https://orcid.org/0009-0006-4530-3154 2011-06-09T05:11:49Z UMLS:C4021962 human_phenotype HP:0100823 Genital hernia HP:0100823 true HP:0100824 Inflammation of the lip. 2011-06-09T05:18:41Z SNOMEDCT_US:7847004 UMLS:C0007971 UMLS:C4280288 Inflammation of the lips human_phenotype Red and sore lips HP:0100825 It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. Cheilitis HP:0100825 Inflammation of the lip. https://orcid.org/0009-0006-4530-3154 Inflammation of the lips https://orcid.org/0000-0001-5889-4463 Red and sore lips https://orcid.org/0000-0001-5889-4463 A tumor (abnormal growth of tissue) of the nail. 2011-06-09T05:31:21Z NCIT:C3262 UMLS:C4021961 Nail tumor Nail tumour human_phenotype HP:0100826 Neoplasm of the nail HP:0100826 A tumor (abnormal growth of tissue) of the nail. https://orcid.org/0000-0002-0736-9199 Nail tumor https://orcid.org/0000-0001-5208-3432 Nail tumour Increase in the number or proportion of lymphocytes in the blood. 2011-06-09T05:32:57Z HP:0012141 SNOMEDCT_US:67023009 UMLS:C0024282 High lymphocyte count Lymphocytosis human_phenotype HP:0100827 Increased total lymphocyte count HP:0100827 Increase in the number or proportion of lymphocytes in the blood. https://orcid.org/0009-0006-4530-3154 High lymphocyte count https://orcid.org/0000-0001-5208-3432 Abnormal increase in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2011-06-09T05:34:46Z UMLS:C4021960 CD3+ T-cell lymphocytosis Increase in T cell count Increased absolute T cell count T cell lymphocytosis human_phenotype HP:0100828 Increased total T cell count HP:0100828 Abnormal increase in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. PMID:22420532 Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. 2011-06-09T05:39:15Z UMLS:C3665358 Galactorrhoea Spontaneous milk flow from breast human_phenotype HP:0100829 Galactorrhea HP:0100829 Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. https://orcid.org/0009-0006-4530-3154 Spontaneous milk flow from breast https://orcid.org/0000-0001-5208-3432 2011-06-09T05:41:29Z UMLS:C4021959 Round ear human_phenotype HP:0100830 Round ear HP:0100830 Round ear The concentration of vitamin K in the blood circulation is outside the limits of normal. 2011-06-09T05:46:50Z UMLS:C4021958 Abnormality of vitamin K metabolism human_phenotype HP:0100831 Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. Abnormal circulating vitamin K concentration HP:0100831 Abnormality of vitamin K metabolism Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade. https://orcid.org/0000-0002-0736-9199 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. 2011-06-09T05:58:09Z SNOMEDCT_US:15013002 SNOMEDCT_US:162278001 SNOMEDCT_US:420999000 UMLS:C0016242 UMLS:C1720491 Eye floaters Flitting flies Mouches volantes Myodeopsia Myodesopsia Spots in front of eyes Vitreous condensations Vitreous debris Vitreous opacities Vitreous veils human_phenotype HP:0100832 Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil. Vitreous floaters HP:0100832 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent. https://orcid.org/0009-0006-4530-3154 Eye floaters https://orcid.org/0000-0001-5208-3432 Spots in front of eyes The presence of a neoplasm of the small intestine. 2011-06-09T06:03:02Z NCIT:C3262 SNOMEDCT_US:126832004 UMLS:C0345832 Small intestine tumor Small intestine tumour human_phenotype HP:0100833 An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas. Neoplasm of the small intestine HP:0100833 The presence of a neoplasm of the small intestine. https://orcid.org/0000-0002-0736-9199 Small intestine tumor https://orcid.org/0000-0001-5208-3432 Small intestine tumour The presence of a neoplasm of the large intestine. 2011-06-09T06:03:45Z NCIT:C3262 SNOMEDCT_US:126837005 UMLS:C0009404 Large intestine tumor Large intestine tumour human_phenotype HP:0100834 Neoplasm of the large intestine HP:0100834 The presence of a neoplasm of the large intestine. https://orcid.org/0000-0002-0736-9199 Large intestine tumor https://orcid.org/0000-0001-5208-3432 Large intestine tumour 2011-06-09T06:08:47Z SNOMEDCT_US:92048008 UMLS:C0347509 Benign neoplasm of the CNS human_phenotype HP:0100835 Benign neoplasm of the central nervous system HP:0100835 Benign neoplasm of the CNS A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. 2011-06-09T06:09:10Z SNOMEDCT_US:372062007 UMLS:C0348374 Malignant neoplasm of the CNS human_phenotype HP:0100836 Malignant neoplasm of the central nervous system HP:0100836 A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. https://orcid.org/0000-0002-0736-9199 Malignant neoplasm of the CNS Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. 2011-06-09T06:20:04Z SNOMEDCT_US:400059005 SNOMEDCT_US:400126005 UMLS:C0263428 Vermiculata atrophoderma human_phenotype HP:0100837 The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years. Atrophodermia vermiculata HP:0100837 Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. https://orcid.org/0000-0002-0736-9199 An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. 2011-06-09T06:35:07Z UMLS:C4021957 human_phenotype HP:0100838 Recurrent cutaneous abscess formation HP:0100838 An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. https://orcid.org/0000-0002-0736-9199 Absence of the liver owing to a failure of the liver to develop. 2011-06-09T06:37:25Z SNOMEDCT_US:3650004 UMLS:C0266258 Failed liver development Liver agenesis human_phenotype HP:0100839 Hepatic agenesis HP:0100839 Absence of the liver owing to a failure of the liver to develop. https://orcid.org/0000-0002-0736-9199 Failed liver development https://orcid.org/0000-0001-5208-3432 Absence or underdevelopment of the eyebrow. 2011-06-09T06:40:51Z human_phenotype Sparse or absent eyebrows Sparse to absent eyebrows Sparse/absent eyebrows HP:0100840 Aplasia/Hypoplasia of the eyebrow HP:0100840 Absence or underdevelopment of the eyebrow. https://orcid.org/0000-0002-0736-9199 Sparse or absent eyebrows https://orcid.org/0000-0002-5316-1399 Sparse to absent eyebrows https://orcid.org/0000-0002-5316-1399 Sparse/absent eyebrows https://orcid.org/0000-0002-5316-1399 A developmental anomaly with a small tubular or saccular midline stomach. 2011-06-09T06:42:10Z SNOMEDCT_US:83714006 UMLS:C0266150 human_phenotype HP:0100841 Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia. Microgastria HP:0100841 A developmental anomaly with a small tubular or saccular midline stomach. PMID:10067744 Underdevelopment of the optic nerve and absence of the septum pellucidum. 2011-06-09T06:44:12Z SNOMEDCT_US:7611002 UMLS:C0338503 De Morsier syndrome human_phenotype HP:0100842 Septo-optic dysplasia HP:0100842 Underdevelopment of the optic nerve and absence of the septum pellucidum. https://orcid.org/0009-0006-4530-3154 HP:0012174 2011-06-09T06:47:23Z human_phenotype HP:0100843 obsolete Glioblastoma true HP:0100843 2011-06-09T06:50:10Z SNOMEDCT_US:25803005 UMLS:C0030290 human_phenotype HP:0100844 Pancreatic fistula HP:0100844 An acute hypersensitivity reaction due to exposure to a previously encountered antigen. 2011-06-09T06:54:40Z SNOMEDCT_US:39579001 UMLS:C0002792 Anaphylactic reaction Anaphylactoid-type reaction Anaphylaxis human_phenotype HP:0100845 Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. Anaphylactic shock HP:0100845 An acute hypersensitivity reaction due to exposure to a previously encountered antigen. https://orcid.org/0000-0002-0736-9199 Anaphylaxis true HP:0100846 A chronic, relapsing, pustular eruption that is localized to the palms and soles. 2011-06-09T07:07:06Z MEDDRA:10050185 SNOMEDCT_US:27520001 UMLS:C0030246 Palmoplantar pustules Pustulosis of palms and soles Pustulosis palmaris et plantaris human_phenotype HP:0100847 There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration. Palmoplantar pustulosis HP:0100847 A chronic, relapsing, pustular eruption that is localized to the palms and soles. PMID:23209116 https://orcid.org/0000-0002-0736-9199 MEDDRA:10050185 Palmoplantar pustulosis A tumor (abnormal growth of tissue) of the male external genitalia. 2011-06-17T01:33:06Z NCIT:C3262 UMLS:C4020950 Neoplasia of the male external genitalia human_phenotype HP:0100848 Neoplasm of the male external genitalia HP:0100848 A tumor (abnormal growth of tissue) of the male external genitalia. https://orcid.org/0009-0006-4530-3154 A tumor (abnormal growth of tissue) of the scrotum. 2011-06-17T01:37:49Z NCIT:C3262 SNOMEDCT_US:126905005 UMLS:C0341790 Neoplasia of the scrotum Scrotum tumor Scrotum tumour human_phenotype HP:0100849 Neoplasm of the scrotum HP:0100849 A tumor (abnormal growth of tissue) of the scrotum. https://orcid.org/0000-0002-0736-9199 Scrotum tumor https://orcid.org/0000-0001-5208-3432 Scrotum tumour A tumor (abnormal growth of tissue) of the penis. 2011-06-17T01:38:16Z NCIT:C3262 SNOMEDCT_US:126896003 UMLS:C0030849 Neoplasia of the penis Penis tumor Penis tumour human_phenotype HP:0100850 Neoplasm of the penis HP:0100850 A tumor (abnormal growth of tissue) of the penis. https://orcid.org/0000-0002-0736-9199 Penis tumor https://orcid.org/0000-0001-5208-3432 Penis tumour A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events. 2011-06-23T11:07:13Z Affective dysregulation Emotional dysregulation Mood disturbance Psychological distress UMLS:C4020949 human_phenotype HP:0100851 Emotions are complex psychological and physiological states that may include any combination of: a subjective internal experience, a physiological response, and a behavioral or expressive component. Behavioral expression is not required for the emotional state to be considered present or clinically relevant. The assessment of abnormal emotional states should consider sociocultural and individual context, as well as intra-individual baselines. The term 'abnormal' is used descriptively and non-pejoratively, to denote deviations from typical emotional patterns, which may or may not reach the threshold of clinical disorder. Abnormal emotional state HP:0100851 A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events. PMID:35461985 PMID:37925091 An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations. 2011-06-23T11:13:16Z HP:0001296 UMLS:C4018849 Abnormal fear-induced behavior Abnormal fear/anxiety-related behavior Abnormal fear/anxiety-related behaviour human_phenotype HP:0100852 Internal responses to fear, which are experienced by an individual and do not necessarily involve clear behavioral changes (observable actions), should be labeled with a term for fear-related cognition, such as HP:5200230. Abnormal fear-induced behavior HP:0100852 Abnormal fear/anxiety-related behaviour Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. 2011-11-30T09:41:44Z HP:0006609 UMLS:C3276032 Hypoplastic areolae human_phenotype HP:0100853 Hypoplastic areola HP:0100853 Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. https://orcid.org/0000-0002-0736-9199 Absence of the musculature. 2011-11-30T09:51:08Z UMLS:C4021955 Absent musculature human_phenotype HP:0100854 Aplasia of the musculature HP:0100854 Absence of the musculature. https://orcid.org/0009-0006-4530-3154 Absent musculature https://orcid.org/0000-0001-5208-3432 Hypoplasia of the triceps muscle. 2011-11-30T09:56:14Z UMLS:C4021954 Small triceps Underdeveloped triceps human_phenotype HP:0100855 Triceps hypoplasia HP:0100855 Hypoplasia of the triceps muscle. https://orcid.org/0009-0006-4530-3154 Small triceps https://orcid.org/0000-0001-5208-3432 Underdeveloped triceps https://orcid.org/0000-0001-5208-3432 Decreased ossification of the vertebral bodies. 2011-11-30T09:59:32Z UMLS:C4021953 human_phenotype HP:0100856 Poorly ossified vertebrae HP:0100856 Decreased ossification of the vertebral bodies. https://orcid.org/0009-0006-4530-3154 An abnormally flat sella turcica. 2011-11-30T10:02:07Z UMLS:C4021952 human_phenotype HP:0100857 Flat sella turcica HP:0100857 An abnormally flat sella turcica. https://orcid.org/0009-0006-4530-3154 Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. 2011-11-30T10:07:35Z SNOMEDCT_US:111290000 UMLS:C0264969 Dilatation of coeliac artery Celiac artery aneurysm Coeliac artery aneurysm human_phenotype HP:0100858 Aneurysm is considered a severe form of dilatation. Dilatation of celiac artery HP:0100858 Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. https://orcid.org/0000-0002-0736-9199 Dilatation of coeliac artery Coeliac artery aneurysm Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . 2011-11-30T10:07:35Z SNOMEDCT_US:65498003 UMLS:C0264974 Superior mesenteric artery aneurysm human_phenotype HP:0100859 Aneurysm is considered a severe form of dilatation. Dilatation of superior mesenteric artery HP:0100859 Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery . https://orcid.org/0000-0002-0736-9199 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . 2011-11-30T10:07:35Z SNOMEDCT_US:195289005 UMLS:C0340625 Inferior mesenteric artery aneurysm human_phenotype HP:0100860 Aneurysm is considered a severe form of dilatation. Dilatation of Inferior mesenteric artery HP:0100860 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery . https://orcid.org/0000-0002-0736-9199 Increase in bone density of the vertebral body. 2011-11-30T10:12:34Z HP:0004578 UMLS:C4021951 Vertebral body sclerosis human_phenotype HP:0100861 Sclerotic vertebral body HP:0100861 Increase in bone density of the vertebral body. https://orcid.org/0000-0002-0736-9199 2011-11-30T10:47:46Z UMLS:C4021950 Absent femoral head human_phenotype HP:0100862 Aplasia of the femoral head HP:0100862 Absent femoral head https://orcid.org/0000-0001-5208-3432 2011-11-30T10:48:08Z UMLS:C4021949 Absent neck of thighbone human_phenotype HP:0100863 Aplasia of the femoral neck HP:0100863 Absent neck of thighbone https://orcid.org/0000-0001-5208-3432 An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). 2011-11-30T10:48:34Z HP:0003032 HP:0008779 HP:0008793 UMLS:C1836184 Hypoplasia of the femoral neck Hypoplastic femoral neck Short femoral necks Short neck of thighbone human_phenotype HP:0100864 Short femoral neck HP:0100864 An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). https://orcid.org/0000-0002-0736-9199 Short neck of thighbone https://orcid.org/0000-0001-5208-3432 Increased width of the ischium, which forms the lower and back part of the hip bone. 2011-11-30T11:09:10Z HP:0008814 UMLS:C1836868 human_phenotype HP:0100865 Broad ischia HP:0100865 Increased width of the ischium, which forms the lower and back part of the hip bone. https://orcid.org/0000-0002-0736-9199 Underdevelopment of the iliac bones. 2011-11-30T11:11:24Z UMLS:C1849063 Short pelvis bones human_phenotype HP:0100866 Short iliac bones HP:0100866 Underdevelopment of the iliac bones. PMID:29019756 Short pelvis bones https://orcid.org/0000-0001-5208-3432 The narrowing or partial blockage of a portion of the duodenum. 2011-11-30T11:13:27Z HP:0005205 HP:0010449 MEDDRA:10050094 SNOMEDCT_US:73120006 UMLS:C0238093 UMLS:C1860791 Duodenal stenosis/atresia human_phenotype HP:0100867 Duodenal stenosis HP:0100867 The narrowing or partial blockage of a portion of the duodenum. https://orcid.org/0009-0006-4530-3154 MEDDRA:10050094 Duodenal stenosis true HP:0100868 The presence of telangiectases on the skin of palm of hand. 2011-11-30T11:19:45Z HP:0007399 UMLS:C4020948 Telangiectases of palms and soles Teleangiectases of palms human_phenotype HP:0100869 Palmar telangiectasia HP:0100869 The presence of telangiectases on the skin of palm of hand. https://orcid.org/0000-0002-0736-9199 Telangiectases (small dilated blood vessels) located on the skin of sole of foot. 2011-11-30T11:19:59Z UMLS:C4020947 Plantar teleangiectasia Telangiectases of soles Teleangiectases of soles human_phenotype HP:0100870 Plantar telangiectasia HP:0100870 Telangiectases (small dilated blood vessels) located on the skin of sole of foot. https://orcid.org/0000-0002-0736-9199 An abnormality of the palm, that is, of the front of the hand. 2011-11-30T11:21:16Z UMLS:C4021948 Abnormality of the palm human_phenotype HP:0100871 Abnormal palm morphology HP:0100871 An abnormality of the palm, that is, of the front of the hand. https://orcid.org/0000-0002-0736-9199 Abnormality of the palm An abnormality of the plantar part of foot, that is of the soles of the feet. 2011-11-30T11:23:05Z HP:0010613 UMLS:C4020946 Minor feet anomalies human_phenotype HP:0100872 Abnormality of the plantar skin of foot HP:0100872 An abnormality of the plantar part of foot, that is of the soles of the feet. https://orcid.org/0000-0002-0736-9199 true HP:0100873 Increased density of hairs, i.e., and elevated number of hairs per unit area. 2011-12-01T02:13:58Z UMLS:C4073184 Increased follicular density Increased hair density Thick hair human_phenotype HP:0100874 Thick hair HP:0100874 Increased density of hairs, i.e., and elevated number of hairs per unit area. https://orcid.org/0000-0002-0736-9199 Increased follicular density https://orcid.org/0000-0001-5889-4463 Increased hair density https://orcid.org/0000-0001-5889-4463 Thick hair Increased length and width of one half of the tongue. 2011-12-01T02:15:01Z Hemiglossal hyperplasia Hyperplasia of half of the tongue UMLS:C4021947 UMLS:C4280287 Hemiglossal hypertrophy Hypertrophy of half of the tongue Increased size of half of the tongue Large half of tongue human_phenotype HP:0100875 Hemimacroglossia HP:0100875 Increased length and width of one half of the tongue. https://orcid.org/0009-0006-4530-3154 Hemiglossal hyperplasia https://orcid.org/0000-0001-5889-4463 Hyperplasia of half of the tongue https://orcid.org/0000-0001-5889-4463 Hemiglossal hypertrophy https://orcid.org/0000-0001-5889-4463 Hypertrophy of half of the tongue https://orcid.org/0000-0001-5889-4463 Increased size of half of the tongue https://orcid.org/0000-0001-5889-4463 Large half of tongue https://orcid.org/0000-0001-5889-4463 Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. 2011-12-01T02:21:22Z HP:0007796 UMLS:C1857280 Crease in skin under the eye Groove in skin under the eye Infraorbital crease Infraorbital creases Underorbital skin creases human_phenotype HP:0100876 This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. Infra-orbital crease HP:0100876 Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. PMID:19125427 Crease in skin under the eye https://orcid.org/0000-0001-5889-4463 Groove in skin under the eye https://orcid.org/0000-0001-5889-4463 Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. 2011-12-01T02:29:09Z SNOMEDCT_US:433036004 UMLS:C2315541 Caliceal diverticulum Pelvic diverticulum Renal pelvic diverticulum human_phenotype HP:0100877 Renal diverticulum HP:0100877 Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system. https://orcid.org/0009-0006-4530-3154 2011-12-01T02:32:26Z SNOMEDCT_US:198319004 UMLS:C0151994 Enlarged uterus human_phenotype HP:0100878 Enlarged uterus HP:0100878 Enlarged uterus 2011-12-01T02:33:12Z SNOMEDCT_US:66998000 UMLS:C0392039 Enlarged ovaries human_phenotype HP:0100879 Enlarged ovaries HP:0100879 Enlarged ovaries Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. 2011-12-01T02:41:34Z SNOMEDCT_US:405933007 UMLS:C1320468 human_phenotype HP:0100880 Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. Nephrogenic rest HP:0100880 Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. https://orcid.org/0009-0006-4530-3154 Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. 2011-12-01T02:44:52Z UMLS:C1332965 human_phenotype HP:0100881 Congenital mesoblastic nephroma is more common in males. Congenital mesoblastic nephroma HP:0100881 Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. https://orcid.org/0009-0006-4530-3154 A rare, benign soft tissue tumor that typically occurs within the first two years of life. 2011-12-01T02:48:30Z SNOMEDCT_US:22257004 SNOMEDCT_US:56364004 UMLS:C0265979 Fibrous hamartoma of infancy human_phenotype HP:0100882 Fibrous hamartoma HP:0100882 A rare, benign soft tissue tumor that typically occurs within the first two years of life. https://orcid.org/0009-0006-4530-3154 Hamartoma-like growth in the placenta consisting of blood vessels. 2011-12-01T02:50:56Z SNOMEDCT_US:2099007 SNOMEDCT_US:237268002 SNOMEDCT_US:699948001 UMLS:C0677608 Placental hamartoma human_phenotype HP:0100883 Chorioangiomas (also known as placental hemangiomas) are benign hamartomatous growth of the placenta comprising vascular tissue. The classification is controversial due to its pathologic features and clinical implications. Some authors call placental hemangiomas as true nontrophoblastic neoplastic tissues. As this abnormal vascular growth seems like the native placental tissue and it does not metastasize, some authors call it just as placental hamartoma. The general incidence is approximately 0.6 percent. Giant chorioangiomas with a diameter over 5 cm are very rare, with an incidence of one in 16-50 thousand pregnancies. Small tumors do not cause any adverse outcomes and they are asymptomatic. In contrast, tumors larger than 5 cm may lead to several complications. Chorangioma HP:0100883 Hamartoma-like growth in the placenta consisting of blood vessels. PMID:20594143 PMID:24251055 https://orcid.org/0009-0006-4530-3154 A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. 2011-12-01T02:56:41Z SNOMEDCT_US:203645000 UMLS:C0343292 human_phenotype HP:0100884 Compensatory scoliosis HP:0100884 A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time. https://orcid.org/0009-0006-4530-3154 Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. 2011-12-01T03:16:02Z UMLS:C4020945 Klippel-Trenaunay vein Lateral marginal vein of Servelle Vein of Servelle human_phenotype HP:0100885 Embryonic leg veins usually regress before birth, but in Klippel-Trenaunay syndrome (KTS) a persistent embryonic vein (PEV) may be located on the lateral aspect of the affected leg. Known PEVs of the leg are the lateral marginal vein (LMV) and the persistent sciatic vein (PSV). The nomenclature can be confusing because various terms are used to indicate the same aberrant leg vein in KTS (e.g. vein of Servelle, Klippel-Trenaunay vein, lateral marginal vein). Lateral venous anomaly HP:0100885 Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life. https://orcid.org/0009-0006-4530-3154 An abnormality in the placement of the ocular globe (eyeball). 2011-12-13T04:25:29Z UMLS:C4021946 Abnormality of eyeball location Abnormality of eyeball position Abnormality of globe position human_phenotype HP:0100886 Abnormality of globe location HP:0100886 An abnormality in the placement of the ocular globe (eyeball). https://orcid.org/0009-0006-4530-3154 Abnormality of eyeball location https://orcid.org/0000-0001-5889-4463 Abnormality of eyeball position https://orcid.org/0000-0001-5889-4463 Abnormality of globe position https://orcid.org/0000-0001-5889-4463 An abnormality in the size of the ocular globe (eyeball). 2011-12-13T04:25:29Z HP:0010725 UMLS:C4021945 Abnormality of eyeball size Eye size difference human_phenotype HP:0100887 Abnormality of globe size HP:0100887 An abnormality in the size of the ocular globe (eyeball). https://orcid.org/0009-0006-4530-3154 Abnormality of eyeball size https://orcid.org/0000-0001-5889-4463 Eye size difference 2011-12-01T04:50:01Z UMLS:C4021944 human_phenotype HP:0100888 Interdigital loops HP:0100888 An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. 2011-12-01T04:52:13Z UMLS:C4020944 Abnormality of the common bile duct Abnormality of the ductus choledochus human_phenotype HP:0100889 Abnormal ductus choledochus morphology HP:0100889 An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. https://orcid.org/0009-0006-4530-3154 2011-12-01T05:02:35Z SNOMEDCT_US:397868007 SNOMEDCT_US:398197009 SNOMEDCT_US:440471007 UMLS:C0008340 Choledochal cyst human_phenotype HP:0100890 Cyst of the ductus choledochus HP:0100890 A cleft of the xiphoid process of the sternum. 2011-12-01T05:07:17Z UMLS:C4020943 Bifid xiphisternum human_phenotype HP:0100891 Bifid xiphoid process HP:0100891 A cleft of the xiphoid process of the sternum. https://orcid.org/0009-0006-4530-3154 An abnormality of the xiphoid process of the sternum. 2011-12-01T05:09:03Z UMLS:C4021943 human_phenotype HP:0100892 Abnormality of the xiphoid process HP:0100892 An abnormality of the xiphoid process of the sternum. https://orcid.org/0009-0006-4530-3154 Increased prominence of the xiphoid process of the sternum. 2011-12-01T05:10:05Z UMLS:C4020942 Prominent xiphisternum human_phenotype HP:0100893 Prominent xiphoid process HP:0100893 Increased prominence of the xiphoid process of the sternum. https://orcid.org/0000-0002-0736-9199 Increased side-to-side width of the xiphoid process of the sternum. 2011-12-01T05:10:27Z UMLS:C4020901 Broad xiphisternum human_phenotype HP:0100894 Broad xiphoid process HP:0100894 Increased side-to-side width of the xiphoid process of the sternum. https://orcid.org/0000-0002-0736-9199 true HP:0100895 The presence of multiple rectal hyperplastic/adenomatous polyps. 2011-12-01T05:33:49Z HP:0100897 SNOMEDCT_US:39772007 UMLS:C0034887 Multiple rectal polyps Rectal polyps human_phenotype HP:0100896 Rectal polyposis HP:0100896 The presence of multiple rectal hyperplastic/adenomatous polyps. https://orcid.org/0000-0002-0736-9199 true HP:0100897 Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. 2011-12-01T05:39:30Z SNOMEDCT_US:22858003 SNOMEDCT_US:400091006 UMLS:C0334083 human_phenotype HP:0100898 Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. Connective tissue nevi HP:0100898 Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. https://orcid.org/0009-0006-4530-3154 An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2011-12-02T09:34:05Z UMLS:C4020941 Increased bone density in the finger bone Sclerosis of the phalanges of the hand human_phenotype HP:0100899 Sclerosis of finger phalanx HP:0100899 An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the finger bone https://orcid.org/0000-0001-5208-3432 UMLS:C4021942 Increased bone density in the outermost bone of the index finger human_phenotype HP:0100900 Sclerosis of the distal phalanx of the 2nd finger HP:0100900 Increased bone density in the outermost bone of the index finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021941 Increased bone density in the outermost bone of the middle finger human_phenotype HP:0100901 Sclerosis of the distal phalanx of the 3rd finger HP:0100901 Increased bone density in the outermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021940 Increased bone density in the outermost bone of the ring finger human_phenotype HP:0100902 Sclerosis of the distal phalanx of the 4th finger HP:0100902 Increased bone density in the outermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021939 Increased bone density in the outermost little finger bone Increased bone density in the outermost pinkie finger bone Increased bone density in the outermost pinky finger bone human_phenotype HP:0100903 Sclerosis of the distal phalanx of the 5th finger HP:0100903 Increased bone density in the outermost little finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in the outermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in the outermost pinky finger bone https://orcid.org/0000-0001-5208-3432 UMLS:C4021938 Increased bone density in the middle bone of the index finger human_phenotype HP:0100904 Sclerosis of the middle phalanx of the 2nd finger HP:0100904 Increased bone density in the middle bone of the index finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021937 Increased bone density in the middle bone of the middle finger human_phenotype HP:0100905 Sclerosis of the middle phalanx of the 3rd finger HP:0100905 Increased bone density in the middle bone of the middle finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021936 Increased bone density in the middle bone of the ring finger human_phenotype HP:0100906 Sclerosis of the middle phalanx of the 4th finger HP:0100906 Increased bone density in the middle bone of the ring finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021935 Increased bone density in the middle bone of the little finger Increased bone density in the middle bone of the pinkie finger Increased bone density in the middle bone of the pinky finger human_phenotype HP:0100907 Sclerosis of the middle phalanx of the 5th finger HP:0100907 Increased bone density in the middle bone of the little finger https://orcid.org/0000-0001-5208-3432 Increased bone density in the middle bone of the pinkie finger https://orcid.org/0000-0001-5208-3432 Increased bone density in the middle bone of the pinky finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021934 Increased bone density in the innermost bone of the index finger human_phenotype HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger HP:0100908 Increased bone density in the innermost bone of the index finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021933 Increased bone density in innermost bone of the middle finger human_phenotype HP:0100909 Sclerosis of the proximal phalanx of the 3rd finger HP:0100909 Increased bone density in innermost bone of the middle finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021932 Increased bone density in the innermost bone of the ring finger human_phenotype HP:0100910 Sclerosis of the proximal phalanx of the 4th finger HP:0100910 Increased bone density in the innermost bone of the ring finger https://orcid.org/0000-0001-5208-3432 UMLS:C4021931 Increased bone density in innermost little finger bone Increased bone density in innermost pinkie finger bone Increased bone density in innermost pinky finger bone human_phenotype HP:0100911 Sclerosis of the proximal phalanx of the 5th finger HP:0100911 Increased bone density in innermost little finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in innermost pinkie finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in innermost pinky finger bone https://orcid.org/0000-0001-5208-3432 An elevation of bone density in the distal phalanx of the thumb. UMLS:C4021930 Increased bone density in the outermost bone of the thumb human_phenotype HP:0100912 Sclerosis can be identified on a radiograph as an area of increased opacity. Sclerosis of the distal phalanx of the thumb HP:0100912 An elevation of bone density in the distal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Increased bone density in the outermost bone of the thumb https://orcid.org/0000-0001-5208-3432 An elevation of bone density in the proximal phalanx of the thumb. UMLS:C4021929 Increased bone density in the innermost bone of the thumb human_phenotype HP:0100913 Sclerosis of the proximal phalanx of the thumb HP:0100913 An elevation of bone density in the proximal phalanx of the thumb. https://orcid.org/0000-0002-0736-9199 Increased bone density in the innermost bone of the thumb https://orcid.org/0000-0001-5208-3432 UMLS:C4021928 Increased bone density in 1st long bone of hand human_phenotype HP:0100914 Sclerosis of the 1st metacarpal HP:0100914 Increased bone density in 1st long bone of hand https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020940 Increased bone density in outermost finger bone Sclerosis of the distal phalanges of the hand human_phenotype HP:0100915 Sclerosis of distal phalanx of finger HP:0100915 An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in outermost finger bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020939 Increased bone density in middle finger bone of hand Sclerosis of the middle phalanges of the hand human_phenotype HP:0100916 Sclerosis of middle phalanx of finger HP:0100916 An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in middle finger bone of hand https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020938 Increased bone density in innermost finger bone Sclerosis of the proximal phalanges of the hand human_phenotype HP:0100917 Sclerosis of proximal phalanx of finger HP:0100917 An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in innermost finger bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020937 Increased bone density in 2nd finger bone Sclerosis of the phalanges of the 2nd finger human_phenotype HP:0100918 Sclerosis of 2nd finger phalanx HP:0100918 An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in 2nd finger bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020936 Increased bone density in middle finger bone Sclerosis of the phalanges of the 3rd finger human_phenotype HP:0100919 Sclerosis of 3rd finger phalanx HP:0100919 An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in middle finger bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020935 Increased bone density in ring finger bone Sclerosis of the phalanges of the 4th finger human_phenotype HP:0100920 Sclerosis of 4th finger phalanx HP:0100920 An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in ring finger bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020934 Increased bone density in little finger bone Increased bone density in pinkie finger bone Increased bone density in pinky finger bone Sclerosis of the phalanges of the 5th finger human_phenotype HP:0100921 Sclerosis of 5th finger phalanx HP:0100921 An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in little finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in pinkie finger bone https://orcid.org/0000-0001-5208-3432 Increased bone density in pinky finger bone https://orcid.org/0000-0001-5208-3432 UMLS:C4020933 Increased bone density in thumb bone Sclerosis of the phalanges of the thumb human_phenotype HP:0100922 Sclerosis of thumb phalanx HP:0100922 Increased bone density in thumb bone https://orcid.org/0000-0001-5208-3432 An increase in bone density within the clavicle. 2011-12-02T10:28:41Z HP:0006648 UMLS:C3554669 Increased bone density in collarbone Osteosclerosis of the clavicle human_phenotype Osteosclerosis of the clavicles HP:0100923 Clavicular sclerosis HP:0100923 An increase in bone density within the clavicle. https://orcid.org/0000-0002-0736-9199 Increased bone density in collarbone https://orcid.org/0000-0001-5208-3432 Osteosclerosis of the clavicles https://orcid.org/0000-0002-5316-1399 An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2011-12-02T11:08:43Z UMLS:C4020932 Increased bone density in the toe bone Sclerosis of the phalanges of the toes human_phenotype HP:0100924 Sclerosis of toe phalanx HP:0100924 An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2011-12-02T11:12:32Z UMLS:C4020931 Increased bone density in foot bone Sclerosis of bones of the feet human_phenotype HP:0100925 Sclerosis of foot bone HP:0100925 An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in foot bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020930 Increased bone density in 2nd toe bone Sclerosis of the phalanges of the 2nd toe human_phenotype HP:0100926 Sclerosis of 2nd toe phalanx HP:0100926 An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in 2nd toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020929 Increased bone density in 3rd toe bone Sclerosis of the phalanges of the 3rd toe human_phenotype HP:0100927 Sclerosis of 3rd toe phalanx HP:0100927 An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in 3rd toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020928 Increased bone density in 4th toe bone Sclerosis of the phalanges of the 4th toe human_phenotype HP:0100928 Sclerosis of 4th toe phalanx HP:0100928 An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in 4th toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020927 Increased bone density in little toe bone Increased bone density in pinkie toe bone Increased bone density in pinky toe bone Sclerosis of the phalanges of the 5th toe human_phenotype HP:0100929 Sclerosis of 5th toe phalanx HP:0100929 An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in little toe bone https://orcid.org/0000-0001-5208-3432 Increased bone density in pinkie toe bone https://orcid.org/0000-0001-5208-3432 Increased bone density in pinky toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020926 Increased bone density in big toe bone Sclerosis of the phalanges of the hallux human_phenotype HP:0100930 Sclerosis of hallux phalanx HP:0100930 An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in big toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021927 Increased bone density in the innermost bone of the 2nd toe human_phenotype HP:0100931 Sclerosis of the proximal phalanx of the 2nd toe HP:0100931 An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the innermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021926 Increased bone density in the innermost bone of the 3rd toe human_phenotype HP:0100932 Sclerosis of the proximal phalanx of the 3rd toe HP:0100932 An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the innermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021925 Increased bone density in the innermost bone of the 4th toe human_phenotype HP:0100933 Sclerosis of the proximal phalanx of the 4th toe HP:0100933 Increased bone density in the innermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021924 Increased bone density in the innermost bone of the little toe Increased bone density in the innermost bone of the pinkie toe Increased bone density in the innermost bone of the pinky toe human_phenotype HP:0100934 Sclerosis of the proximal phalanx of the 5th toe HP:0100934 Increased bone density in the innermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the innermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the innermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021923 Increased bone density in the middle bone of the 2nd toe human_phenotype HP:0100935 Sclerosis of the middle phalanx of the 2nd toe HP:0100935 Increased bone density in the middle bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021922 Increased bone density in the middle bone of the 3rd toe human_phenotype HP:0100936 Sclerosis of the middle phalanx of the 3rd toe HP:0100936 An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the middle bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021921 Increased bone density in the middle bone of the 4th toe human_phenotype HP:0100937 Sclerosis of the middle phalanx of the 4th toe HP:0100937 Increased bone density in the middle bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021920 Increased bone density in the middle bone of the little toe Increased bone density in the middle bone of the pinkie toe Increased bone density in the middle bone of the pinky toe human_phenotype HP:0100938 Sclerosis of the middle phalanx of the 5th toe HP:0100938 Increased bone density in the middle bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the middle bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the middle bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021919 Increased bone density in the outermost bone of the 2nd toe human_phenotype HP:0100939 Sclerosis of the distal phalanx of the 2nd toe HP:0100939 Increased bone density in the outermost bone of the 2nd toe https://orcid.org/0000-0001-5208-3432 An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4021918 Increased bone density in the outermost bone of the 3rd toe human_phenotype HP:0100940 Sclerosis of the distal phalanx of the 3rd toe HP:0100940 An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the outermost bone of the 3rd toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021917 Increased bone density in the outermost bone of the 4th toe human_phenotype HP:0100941 Sclerosis of the distal phalanx of the 4th toe HP:0100941 Increased bone density in the outermost bone of the 4th toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021916 Increased bone density in the outermost bone of the little toe Increased bone density in the outermost bone of the pinkie toe Increased bone density in the outermost bone of the pinky toe human_phenotype HP:0100942 Sclerosis of the distal phalanx of the 5th toe HP:0100942 Increased bone density in the outermost bone of the little toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the outermost bone of the pinkie toe https://orcid.org/0000-0001-5208-3432 Increased bone density in the outermost bone of the pinky toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021915 Increased bone density in the innermost bone of the big toe human_phenotype HP:0100943 Sclerosis of the proximal phalanx of the hallux HP:0100943 Increased bone density in the innermost bone of the big toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021914 Increased bone density in the outermost bone of the big toe human_phenotype HP:0100944 Sclerosis of the distal phalanx of the hallux HP:0100944 Increased bone density in the outermost bone of the big toe https://orcid.org/0000-0001-5208-3432 UMLS:C4021913 Increased bone density in the 1st long bone of foot human_phenotype HP:0100945 Sclerosis of the 1st metatarsal HP:0100945 Increased bone density in the 1st long bone of foot https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020925 Increased bone density in innermost toe bone Sclerosis of the proximal phalanges of the toes human_phenotype HP:0100946 Sclerosis of proximal phalanx of toe HP:0100946 An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in innermost toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020924 Increased bone density in middle toe bone Sclerosis of the middle phalanges of the toes human_phenotype HP:0100947 Sclerosis of middle phalanx of toe HP:0100947 An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in middle toe bone https://orcid.org/0000-0001-5208-3432 An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. UMLS:C4020923 Increased bone density in the outermost bone of the toes Sclerosis of the distal phalanges of the toes human_phenotype HP:0100948 Sclerosis of distal phalanx of toe HP:0100948 An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity. https://orcid.org/0000-0002-0736-9199 Increased bone density in the outermost bone of the toes https://orcid.org/0000-0001-5208-3432 true HP:0100949 2011-12-02T04:33:23Z SNOMEDCT_US:237999008 UMLS:C1969443 human_phenotype Long chain 3 hydroxyacyl coA dehydrogenase deficiency Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency HP:0100950 Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase. Decreased 3-hydroxyacyl-CoA dehydrogenase level HP:0100950 2011-12-02T04:45:02Z HP:0002420 UMLS:C4020922 Enlarged basal cistern Enlarged interpeduncular cistern human_phenotype HP:0100951 Enlarged fossa interpeduncularis HP:0100951 An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). 2011-12-02T04:47:51Z UMLS:C4020921 Enlarged lateral fissure Enlarged lateral sulcus Enlarged sylvian fissure human_phenotype HP:0100952 Enlarged sylvian cistern HP:0100952 An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). https://orcid.org/0000-0002-0736-9199 2011-12-02T04:49:49Z UMLS:C4020920 Enlarged great longitudinal fissure Enlarged longitudinal cerebral fissure Enlarged longitudinal fissure human_phenotype HP:0100953 Enlarged interhemispheric fissure HP:0100953 Underdevelopment of the operculum. 2011-12-02T04:55:20Z UMLS:C2675973 human_phenotype HP:0100954 Open operculum HP:0100954 Underdevelopment of the operculum. https://orcid.org/0009-0006-4530-3154 2011-12-02T04:57:10Z UMLS:C4021912 human_phenotype HP:0100955 Giant cell granuloma of mandible HP:0100955 true HP:0100956 Any structural abnormality of the medulla of the kidney. 2011-12-12T10:02:15Z HP:0005582 UMLS:C4021911 Abnormality of the renal medulla human_phenotype HP:0100957 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. Abnormal renal medulla morphology HP:0100957 Any structural abnormality of the medulla of the kidney. PMID:22343825 https://orcid.org/0000-0002-0736-9199 Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. 2012-01-18T05:17:14Z UMLS:C4021910 human_phenotype HP:0100958 Narrow foramen obturatorium HP:0100958 Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. https://orcid.org/0000-0002-0736-9199 Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. 2012-01-18T05:25:57Z UMLS:C4020919 Dense metaphyseal band sign Dense metaphyseal lines Lead lines in metaphyses of bones Transverse metaphyseal bands human_phenotype HP:0100959 Dense metaphyseal bands HP:0100959 Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. PMID:10352605 https://orcid.org/0009-0006-4530-3154 Abnormal difference in size between the left and right lateral cerebral ventricles. 2012-01-18T05:47:26Z UMLS:C4021909 Asymmetric lateral ventricles Asymmetric ventricles Cerebral lateral ventricular asymmetry human_phenotype HP:0100960 Lateral ventricular asymmetry HP:0100960 Abnormal difference in size between the left and right lateral cerebral ventricles. PMID:18253688 PMID:2257506 https://orcid.org/0000-0002-6670-9157 Increase in size of the hippocampus. 2012-01-18T06:05:24Z UMLS:C4021908 human_phenotype HP:0100961 The hippocampus is part of the limbic system and plays a role in long- and short-term memory. Enlarged hippocampus HP:0100961 Increase in size of the hippocampus. https://orcid.org/0000-0002-0736-9199 Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others. 2012-01-18T06:06:28Z UMLS:C0037020 Shyness human_phenotype HP:0100962 Excessive shyness HP:0100962 Shyness Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. 2012-01-18T06:11:19Z SNOMEDCT_US:14151009 UMLS:C0020453 Hyperaesthesia human_phenotype HP:0100963 Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. Hyperesthesia HP:0100963 Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. PMID:33085272 true HP:0100964 Different levels of maturation of different bones. 2010-05-31T01:16:51Z UMLS:C4020918 Dysharmonic bone age Dysharmonic skeletal maturation human_phenotype HP:0200000 Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. Dysharmonic skeletal maturation HP:0200000 A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. 2010-05-31T01:20:58Z UMLS:C4021907 human_phenotype HP:0200001 Dysharmonic accelerated bone age HP:0200001 A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones. https://orcid.org/0000-0002-0736-9199 true HP:0200002 Flaring (widening) of the epiphysis. 2010-05-31T02:19:45Z HP:0004978 UMLS:C4021906 Splayed end part of bone human_phenotype HP:0200003 Splayed epiphyses HP:0200003 Flaring (widening) of the epiphysis. https://orcid.org/0000-0002-0736-9199 Splayed end part of bone https://orcid.org/0000-0001-5208-3432 true HP:0200004 The presence of an abnormal shape of the palpebral fissure. 2010-06-09T07:56:37Z UMLS:C4021905 Abnormal morphology of the palpebral fissure Abnormal shape of the opening between the eyelids human_phenotype HP:0200005 Abnormal shape of the palpebral fissure HP:0200005 The presence of an abnormal shape of the palpebral fissure. https://orcid.org/0000-0002-0736-9199 Abnormal morphology of the palpebral fissure https://orcid.org/0000-0001-5889-4463 Abnormal shape of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 2010-06-09T07:57:10Z UMLS:C2748932 Slanting of the opening between the eyelids human_phenotype HP:0200006 Slanting of the palpebral fissure HP:0200006 Slanting of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. 2010-06-09T08:18:52Z UMLS:C4021904 UMLS:C4280286 Abnormal size of the opening between the eyelids human_phenotype Abnormal size of the eyes HP:0200007 Abnormal size of the palpebral fissures HP:0200007 An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. https://orcid.org/0009-0006-4530-3154 Abnormal size of the opening between the eyelids https://orcid.org/0000-0001-5889-4463 Abnormal size of the eyes https://orcid.org/0000-0001-5889-4463 The presence of multiple polyps in the intestine. 2010-06-09T11:38:54Z Growths in inner lining of intestine UMLS:C0744333 UMLS:C1257915 Multiple intestinal polyps human_phenotype Gastrointestinal polyps HP:0200008 Intestinal polyposis HP:0200008 The presence of multiple polyps in the intestine. https://orcid.org/0000-0002-0736-9199 Growths in inner lining of intestine https://orcid.org/0000-0002-6548-5200 Gastrointestinal polyps https://orcid.org/0000-0002-5316-1399 true HP:0200009 true HP:0200010 2010-06-09T11:52:00Z UMLS:C4021903 human_phenotype HP:0200011 Abnormal length of corpus callosum HP:0200011 2010-06-09T11:52:21Z UMLS:C4021902 human_phenotype HP:0200012 Short corpus callosum HP:0200012 A tumor (abnormal growth of tissue) of adipose tissue. 2010-06-10T09:37:17Z NCIT:C3262 UMLS:C4021901 Tumor of fatty tissue Tumour of fatty tissue human_phenotype HP:0200013 Neoplasm of fatty tissue HP:0200013 A tumor (abnormal growth of tissue) of adipose tissue. https://orcid.org/0009-0006-4530-3154 Tumor of fatty tissue https://orcid.org/0000-0001-6908-9849 Tumour of fatty tissue true HP:0200014 2010-06-16T11:57:43Z UMLS:C4021900 human_phenotype HP:0200015 Symmetric great toe depigmentation HP:0200015 Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. 2010-06-16T12:18:42Z SNOMEDCT_US:46629009 UMLS:C0001202 Acral keratosis human_phenotype HP:0200016 Acrokeratosis HP:0200016 Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. https://orcid.org/0000-0002-5316-1399 Congenital defect with failure of the development of the cerebral white matter. 2010-06-16T12:37:37Z UMLS:C1859969 Agenesis of the cerebral white matter White matter agenesis human_phenotype HP:0200017 Cerebral white matter agenesis HP:0200017 Congenital defect with failure of the development of the cerebral white matter. https://orcid.org/0000-0002-0736-9199 A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. 2010-06-16T12:55:24Z HP:0200019 SNOMEDCT_US:51445007 UMLS:C0155015 UMLS:C3887980 Colorblindness, partial, protan series Red-weak human_phenotype HP:0200018 Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. Protanomaly HP:0200018 A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. https://orcid.org/0000-0002-0736-9199 Red-weak https://orcid.org/0000-0001-6908-9849 true HP:0200019 An erosion or abrasion of the cornea's outermost layer of epithelial cells. 2010-06-16T01:50:48Z SNOMEDCT_US:50792001 UMLS:C0392163 Damage to outer layer of the cornea of the eye human_phenotype HP:0200020 Corneal erosion HP:0200020 An erosion or abrasion of the cornea's outermost layer of epithelial cells. https://orcid.org/0009-0006-4530-3154 Damage to outer layer of the cornea of the eye https://orcid.org/0000-0002-6548-5200 Low set, steeply sloping shoulders. 2010-06-16T02:15:20Z HP:0001556 HP:0006663 UMLS:C1856872 Down-sloping shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders human_phenotype HP:0200021 Down-sloping shoulders HP:0200021 Low set, steeply sloping shoulders. https://orcid.org/0000-0002-0736-9199 Down-sloping shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. 2010-06-16T04:01:24Z NCIT:C3698 SNOMEDCT_US:18021007 UMLS:C0205770 human_phenotype HP:0200022 Choroid plexus papilloma HP:0200022 Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. https://orcid.org/0000-0002-5316-1399 A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. 2010-06-16T05:00:44Z SNOMEDCT_US:6273006 UMLS:C0033117 hulseyism human_phenotype HP:0200023 Priapism HP:0200023 A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. https://orcid.org/0000-0002-5316-1399 The presence of premature sister chromatid segregation. 2010-06-16T05:13:30Z UMLS:C4021899 human_phenotype HP:0200024 Premature chromatid separation HP:0200024 The presence of premature sister chromatid segregation. https://orcid.org/0000-0002-0736-9199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. 2010-06-16T07:33:14Z SNOMEDCT_US:274667000 UMLS:C0236000 Lower jaw pain human_phenotype HP:0200025 Mandibular pain HP:0200025 Lower jaw pain https://orcid.org/0000-0001-5889-4463 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. 2010-06-16T07:39:04Z SNOMEDCT_US:41652007 UMLS:C0151827 Eye pain human_phenotype HP:0200026 Ocular pain HP:0200026 Eye pain https://orcid.org/0000-0001-5889-4463 true HP:0200027 A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. 2010-06-17T02:32:36Z SNOMEDCT_US:237825005 SNOMEDCT_US:78146007 UMLS:C0033103 UMLS:C0342554 Graves dermopathy human_phenotype HP:0200028 Pretibial myxedema HP:0200028 A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet. https://orcid.org/0000-0002-5316-1399 Graves dermopathy https://orcid.org/0000-0001-6908-9849 A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue. 2010-06-17T02:55:19Z SNOMEDCT_US:53312001 UMLS:C0262988 Cutaneous vasculitis human_phenotype HP:0200029 Vasculitis in the skin HP:0200029 Cutaneous vasculitis https://orcid.org/0000-0002-5316-1399 2010-06-17T02:55:38Z UMLS:C3277693 human_phenotype HP:0200030 Punctate vasculitis skin lesions HP:0200030 true HP:0200031 Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. 2010-06-24T12:30:24Z SNOMEDCT_US:77103006 UMLS:C0152457 Fleischer's ring Fleischer-Kayser ring Fleischer-Struempell ring human_phenotype HP:0200032 Kayser-Fleischer ring HP:0200032 Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. https://orcid.org/0000-0002-5316-1399 Fleischer's ring https://orcid.org/0000-0002-5316-1399 Fleischer-Kayser ring https://orcid.org/0000-0002-5316-1399 Fleischer-Struempell ring https://orcid.org/0000-0002-5316-1399 true HP:0200033 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. 2010-06-18T01:38:03Z MEDDRA:10033733 SNOMEDCT_US:25694009 SNOMEDCT_US:443871003 UMLS:C0332563 Papules human_phenotype Skin papules HP:0200034 Papule HP:0200034 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. https://orcid.org/0000-0002-5316-1399 MEDDRA:10033733 Papule Papules https://orcid.org/0000-0002-5316-1399 A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. 2010-06-18T01:39:28Z SNOMEDCT_US:128177006 SNOMEDCT_US:276322001 UMLS:C0241148 human_phenotype HP:0200035 Skin plaque HP:0200035 A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. https://orcid.org/0000-0002-5316-1399 Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. 2010-06-18T01:48:50Z SNOMEDCT_US:95319004 UMLS:C0037287 Growth of abnormal tissue on or under the skin human_phenotype HP:0200036 A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. Skin nodule HP:0200036 Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. https://orcid.org/0000-0002-5316-1399 A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. 2010-06-18T01:58:15Z UMLS:C3814530 human_phenotype HP:0200037 Vesicles should be distinguished from bullae, which are are blisters that are greater than one cm in diameter containing serous or seropurulent fluid. Puss-filled vesicles are termed pustules. Skin vesicle HP:0200037 A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles. https://orcid.org/0000-0002-5316-1399 true HP:0200038 A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. 2010-06-18T02:03:24Z MEDDRA:10037578 SNOMEDCT_US:103605005 SNOMEDCT_US:271760008 SNOMEDCT_US:285305004 SNOMEDCT_US:47002008 UMLS:C0241157 UMLS:C0542346 Pimple Pustula Pustular lesion Pustules Skin pustule Skin pustules human_phenotype HP:0200039 Pustule HP:0200039 A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. https://orcid.org/0000-0002-5316-1399 MEDDRA:10037578 Pustule Pimple https://orcid.org/0000-0001-6908-9849 Pustules https://orcid.org/0000-0002-5316-1399 Skin pustules https://orcid.org/0000-0002-5316-1399 Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. 2010-06-18T02:08:02Z SNOMEDCT_US:399999000 SNOMEDCT_US:417992006 SNOMEDCT_US:418323001 SNOMEDCT_US:418630001 SNOMEDCT_US:419603000 SNOMEDCT_US:419670003 SNOMEDCT_US:419893006 UMLS:C0014511 Epidermal cyst Epidermal inclusion cyst Infundibular cyst Keratin cyst human_phenotype Central punctum opening in cyst Epidermoid cysts Sebaceous cyst HP:0200040 A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts. Epidermoid cyst HP:0200040 Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. PMID:29763149 https://orcid.org/0000-0002-5316-1399 Epidermoid cysts https://orcid.org/0000-0002-5316-1399 A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. 2010-06-18T02:15:51Z MEDDRA:10040840 SNOMEDCT_US:93448009 UMLS:C3887524 human_phenotype HP:0200041 Skin erosion HP:0200041 A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. https://orcid.org/0000-0002-5316-1399 MEDDRA:10040840 Skin erosion A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. 2010-06-18T02:17:00Z MEDDRA:10040943 SNOMEDCT_US:46742003 UMLS:C0037299 Open skin sore human_phenotype HP:0200042 Skin ulcer HP:0200042 A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. https://orcid.org/0000-0002-5316-1399 MEDDRA:10040943 Skin ulcer Open skin sore https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0002-6548-5200 Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. 2010-06-18T11:35:25Z SNOMEDCT_US:30285000 SNOMEDCT_US:57019003 UMLS:C3665596 Warts human_phenotype HP:0200043 Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. Verrucae HP:0200043 Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. https://orcid.org/0000-0002-5316-1399 Warts https://orcid.org/0000-0002-5316-1399 A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. 2010-06-18T11:57:47Z SNOMEDCT_US:80432009 UMLS:C0949506 human_phenotype HP:0200044 Porokeratosis HP:0200044 A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. https://orcid.org/0000-0002-5316-1399 true HP:0200045 The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. 2011-02-02T01:56:20Z SNOMEDCT_US:42712003 UMLS:C0234861 Cat cry cat-like cry human_phenotype cri de chat-associated cry HP:0200046 This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. Cat cry HP:0200046 The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. https://orcid.org/0000-0002-0736-9199 Cat cry cat-like cry https://orcid.org/0000-0002-5316-1399 cri de chat-associated cry https://orcid.org/0000-0002-5316-1399 Inflammation of the cartilage of the external ear. 2011-02-02T02:02:10Z UMLS:C0741305 Inflammation of cartilage of pinna human_phenotype HP:0200047 Chondritis of pinna HP:0200047 Inflammation of the cartilage of the external ear. https://orcid.org/0000-0002-0736-9199 2011-02-02T02:03:18Z SNOMEDCT_US:301795004 UMLS:C0578475 human_phenotype HP:0200048 Cyanotic episode HP:0200048 Increased muscle tone observed in the arms of the affected person. UMLS:C4021898 human_phenotype HP:0200049 Upper limb hypertonia HP:0200049 Increased muscle tone observed in the arms of the affected person. PMID:21642056 https://orcid.org/0000-0002-6670-9157 UMLS:C4021897 Bracket shaped end part of long bone of hand human_phenotype HP:0200050 Bracket metacarpal epiphyses HP:0200050 Bracket shaped end part of long bone of hand https://orcid.org/0000-0001-5208-3432 true HP:0200051 true HP:0200052 Shortening of a leg affecting only one side. 2011-12-02T03:41:26Z HP:0005618 UMLS:C1844734 Asymmetric leg shortening Asymmetric lower limb shortness human_phenotype HP:0200053 Hemihypotrophy of lower limb HP:0200053 Shortening of a leg affecting only one side. https://orcid.org/0000-0002-0736-9199 2011-11-22T09:56:55Z UMLS:C4021896 human_phenotype HP:0200054 Foot monodactyly HP:0200054 Disproportionately small hand. SNOMEDCT_US:299032009 UMLS:C0575802 Disproportionately small hands Small hand human_phenotype Small hands HP:0200055 Small hand HP:0200055 Disproportionately small hand. https://orcid.org/0000-0002-0736-9199 Disproportionately small hands Small hand Small hands https://orcid.org/0000-0002-5316-1399 Fibrous connective tissue consequent upon healing of a wound (i.e., a scar) located in the macula. 2012-11-18T11:09:09Z HP:0007949 SNOMEDCT_US:18410006 UMLS:C0423428 Macular scarring human_phenotype HP:0200056 Macular scar HP:0200056 Fibrous connective tissue consequent upon healing of a wound (i.e., a scar) located in the macula. https://orcid.org/0000-0002-0736-9199 An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. 2012-11-18T12:14:22Z SNOMEDCT_US:232122003 SNOMEDCT_US:247015002 UMLS:C0549122 Relative afferent pupil defect Relative afferent pupillary defect human_phenotype HP:0200057 Marcus Gunn pupil HP:0200057 An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. PMID:23520419 PMID:32491607 Relative afferent pupil defect https://orcid.org/0000-0002-5316-1399 Relative afferent pupillary defect https://orcid.org/0000-0002-5316-1399 SNOMEDCT_US:33176006 SNOMEDCT_US:39000009 SNOMEDCT_US:403977003 UMLS:C0018923 human_phenotype HP:0200058 Angiosarcoma HP:0200058 UMLS:C0854892 human_phenotype HP:0200059 Metastatic angiosarcoma HP:0200059 true HP:0200060 true HP:0200061 true HP:0200062 Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. 2013-05-31T01:19:31Z SNOMEDCT_US:399505005 UMLS:C0949059 Colorectal polyps human_phenotype HP:0200063 Colorectal polyposis HP:0200063 Asymmetry between the two irides or asymmetry between different parts of one iris. 2013-05-31T01:27:41Z SNOMEDCT_US:247033008 UMLS:C0423318 human_phenotype HP:0200064 Asymmetry of iris pigmentation HP:0200064 Asymmetry between the two irides or asymmetry between different parts of one iris. https://orcid.org/0000-0003-0986-4123 HP:0000533 2013-05-31T01:29:16Z human_phenotype HP:0200065 obsolete Chorioretinal degeneration true HP:0200065 2013-05-31T01:31:04Z UMLS:C4021894 human_phenotype HP:0200066 Ribbonlike corneal degeneration HP:0200066 Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. 2013-05-31T01:33:01Z UMLS:C3279439 human_phenotype Spontaneous abortion, recurrent HP:0200067 Recurrent spontaneous abortion HP:0200067 Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. https://orcid.org/0000-0002-0736-9199 Spontaneous abortion, recurrent https://orcid.org/0000-0002-5316-1399 2013-05-31T01:36:51Z UMLS:C3553696 UMLS:C4021893 human_phenotype Decreased visual acuity, nonprogressive HP:0200068 Nonprogressive visual loss HP:0200068 Decreased visual acuity, nonprogressive https://orcid.org/0000-0002-5316-1399 true HP:0200069 A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. 2013-05-31T01:48:09Z UMLS:C3553016 human_phenotype HP:0200070 Peripheral retinal atrophy HP:0200070 A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells. https://orcid.org/0000-0001-5208-3432 A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. 2013-05-31T01:49:02Z UMLS:C3280349 human_phenotype HP:0200071 Peripheral vitreoretinal degeneration HP:0200071 Intermittent episodes of paralysis of all four limbs. 2013-05-31T04:27:32Z UMLS:C1863062 human_phenotype Quadriplegia, episodic HP:0200072 Episodic quadriplegia HP:0200072 Intermittent episodes of paralysis of all four limbs. https://orcid.org/0000-0002-0736-9199 Quadriplegia, episodic https://orcid.org/0000-0002-5316-1399 2013-05-31T04:31:32Z UMLS:C3552099 human_phenotype HP:0200073 Respiratory insufficiency due to defective ciliary clearance HP:0200073 true HP:0200074 true HP:0200075 true HP:0200076 true HP:0200077 true HP:0200078 true HP:0200079 true HP:0200080 true HP:0200081 true HP:0200082 2013-06-03T04:14:07Z UMLS:C1835446 Severe limb shortening human_phenotype HP:0200083 Severe limb shortening HP:0200083 Severe limb shortening Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. 2013-06-04T02:32:26Z SNOMEDCT_US:69800000 UMLS:C0027613 UMLS:C2673820 UMLS:C2675624 UMLS:C4020697 human_phenotype Giant cell hepatitis on biopsy Giant cell hepatitis on liver biopsy Giant cell hepatitis shown on biopsy HP:0200084 Giant cell hepatitis HP:0200084 Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. PMID:27746622 Giant cell hepatitis on biopsy https://orcid.org/0000-0002-5316-1399 Giant cell hepatitis on liver biopsy https://orcid.org/0000-0002-5316-1399 Giant cell hepatitis shown on biopsy https://orcid.org/0000-0002-5316-1399 2013-06-04T02:39:15Z UMLS:C0235081 Involuntary shaking of limb Limb tremor human_phenotype Tremor of limbs HP:0200085 Limb tremor HP:0200085 Involuntary shaking of limb https://orcid.org/0000-0001-6908-9849 Limb tremor Tremor of limbs https://orcid.org/0000-0002-5316-1399 true HP:0200086 true HP:0200087 true HP:0200088 true HP:0200089 true HP:0200090 true HP:0200091 true HP:0200092 true HP:0200093 2013-06-04T03:04:44Z UMLS:C1857012 human_phenotype HP:0200094 Frontal open bite HP:0200094 HP:0009102 2013-06-04T03:04:56Z human_phenotype HP:0200095 obsolete Anterior open bite true HP:0200095 A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. 2013-06-04T03:06:03Z UMLS:C1859292 Triangular-shaped open mouth human_phenotype HP:0200096 Triangular-shaped open mouth HP:0200096 A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. https://orcid.org/0000-0002-0736-9199 Triangular-shaped open mouth Blisters arising in the mouth. 2013-06-05T09:59:58Z UMLS:C0853945 Blebs of oral mucosa Blisters of mouth Bullae of oral mucosa Oral blistering Oral mucosal blisters human_phenotype Oral mucosa blisters HP:0200097 Oral mucosal blisters HP:0200097 Blisters arising in the mouth. https://orcid.org/0000-0002-0736-9199 Blebs of oral mucosa https://orcid.org/0000-0001-5889-4463 Blisters of mouth https://orcid.org/0000-0001-5889-4463 Bullae of oral mucosa https://orcid.org/0000-0001-5889-4463 Oral mucosal blisters Oral mucosa blisters https://orcid.org/0000-0002-5316-1399 Lack of skin pigmentation (coloring). 2013-06-05T10:22:18Z UMLS:C2673954 Absent skin pigmentation Lack of skin coloration human_phenotype HP:0200098 Absent skin pigmentation HP:0200098 Lack of skin pigmentation (coloring). https://orcid.org/0000-0002-0736-9199 Absent skin pigmentation Lack of skin coloration https://orcid.org/0000-0001-5208-3432 2013-06-05T10:24:46Z HP:0007703 human_phenotype HP:0200099 obsolete Peripheral retinal pigmentation abnormalities true HP:0200099 true HP:0200100 2013-06-05T11:58:29Z UMLS:C1850816 Decreased/absent ankle reflexes human_phenotype Decreased or absent ankle reflexes HP:0200101 Decreased/absent ankle reflexes HP:0200101 Decreased/absent ankle reflexes Decreased or absent ankle reflexes https://orcid.org/0000-0002-5316-1399 2013-06-05T12:03:01Z UMLS:C1835157 UMLS:C1862855 UMLS:C3551431 Sparse or absent eyelashes human_phenotype Partial to total absence of eyelashes Sparse to absent eyelashes HP:0200102 Sparse or absent eyelashes HP:0200102 Sparse or absent eyelashes Partial to total absence of eyelashes https://orcid.org/0000-0002-5316-1399 Sparse to absent eyelashes https://orcid.org/0000-0002-5316-1399 true HP:0200103 Absence of nail of little finger. 2013-06-05T12:11:16Z HP:0011366 UMLS:C4020917 Absent fifth fingernail Absent nail of fifth finger human_phenotype HP:0200104 Absent fifth fingernail HP:0200104 Absence of nail of little finger. https://orcid.org/0000-0002-0736-9199 Absent fifth fingernail Absent nail of fifth finger 2013-06-05T12:11:38Z UMLS:C4021892 Absent fifth toenail Missing fifth toenail human_phenotype HP:0200105 Absent fifth toenail HP:0200105 Absent fifth toenail Missing fifth toenail https://orcid.org/0000-0001-6908-9849 2013-06-05T12:14:18Z UMLS:C4021891 human_phenotype HP:0200106 Absent/shortened dynein arms HP:0200106 2013-06-05T12:14:49Z UMLS:C4021890 human_phenotype HP:0200107 Shortened inner dynein arms HP:0200107 2013-06-05T12:15:10Z UMLS:C4021889 human_phenotype HP:0200108 Shortened outer dynein arms HP:0200108 2013-06-05T12:17:14Z UMLS:C2750161 human_phenotype Respiratory cilia have shortened or absent outer dynein arms HP:0200109 Absent/shortened outer dynein arms HP:0200109 Respiratory cilia have shortened or absent outer dynein arms https://orcid.org/0000-0002-5316-1399 true HP:0200110 2013-06-05T12:21:37Z UMLS:C4021888 human_phenotype HP:0200111 Absent stapes head HP:0200111 true HP:0200112 2013-06-05T12:27:09Z UMLS:C4021887 human_phenotype Aphalangy, hands and feet HP:0200113 Aphalangy of hands and feet HP:0200113 Aphalangy, hands and feet https://orcid.org/0000-0002-5316-1399 Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. 2013-06-05T12:33:28Z SNOMEDCT_US:1388004 UMLS:C0220983 human_phenotype HP:0200114 Metabolic alkalosis HP:0200114 Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. PMID:29493916 true HP:0200115 2013-06-06T04:14:39Z UMLS:C3279409 human_phenotype HP:0200116 Distal ileal atresia HP:0200116 Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections. 2013-06-07T01:34:02Z UMLS:C1842777 human_phenotype HP:0200117 Recurrent upper and lower respiratory tract infections HP:0200117 2013-06-11T11:04:49Z UMLS:C0750292 UMLS:C1850013 human_phenotype Malabsorption of cyanocobalamin Vitamin B12 deficiency caused by intestinal malabsorption HP:0200118 Malabsorption of Vitamin B12 HP:0200118 Malabsorption of cyanocobalamin https://orcid.org/0000-0002-5316-1399 Vitamin B12 deficiency caused by intestinal malabsorption https://orcid.org/0000-0002-5316-1399 Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. 2013-06-11T11:15:57Z SNOMEDCT_US:37871000 UMLS:C0267797 Acute liver inflammation human_phenotype HP:0200119 Acute hepatitis HP:0200119 Acute liver inflammation https://orcid.org/0000-0001-6908-9849 Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. 2013-06-11T11:17:25Z SNOMEDCT_US:197284004 UMLS:C0520463 human_phenotype Hepatitis, chronic active HP:0200120 Chronic active hepatitis HP:0200120 Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. PMID:7418593 Hepatitis, chronic active https://orcid.org/0000-0002-5316-1399 true HP:0200121 2013-06-11T11:20:29Z UMLS:C1848456 Atypical or prolonged liver inflammation human_phenotype HP:0200122 Atypical or prolonged hepatitis HP:0200122 Atypical or prolonged liver inflammation https://orcid.org/0000-0001-6908-9849 Hepatitis that lasts for more than six months. 2013-06-11T11:20:53Z SNOMEDCT_US:76783007 UMLS:C0019189 Chronic liver inflammation human_phenotype HP:0200123 Chronic hepatitis HP:0200123 Hepatitis that lasts for more than six months. https://patient.info/doctor/chronic-hepatitis Chronic liver inflammation https://orcid.org/0000-0001-5208-3432 Chronic hepatitis caused by Cryptosporidium infection that occurs in the context of unusual susceptibility to infection. 2013-06-11T11:21:21Z UMLS:C3808820 human_phenotype Hepatitis, chronic, due to cryptosporidium infection HP:0200124 Cryptosporidial chronic hepatitis is a complication of combined immunodeficiencies affecting CD40-CD40L signalling and other T-cell deficiencies, and may co-occur with sclerosing cholangitis as part of cryptosporidial hepatobiliary disease. Chronic hepatitis due to cryptosporidium infection HP:0200124 Hepatitis, chronic, due to cryptosporidium infection https://orcid.org/0000-0002-5316-1399 2013-06-11T11:22:52Z UMLS:C2751582 human_phenotype HP:0200125 Mitochondrial respiratory chain defects HP:0200125 HP:0030843 human_phenotype HP:0200126 obsolete Amyloid cardiomyopathy true HP:0200126 Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. 2013-06-11T11:27:27Z UMLS:C4021885 human_phenotype HP:0200127 Atrial cardiomyopathy HP:0200127 Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. PMID:27402624 Thickening of the heart walls in both ventricles. 2013-06-11T11:28:46Z UMLS:C0281788 human_phenotype HP:0200128 Biventricular hypertrophy HP:0200128 Thickening of the heart walls in both ventricles. PMID:28740584 HP:0001718 human_phenotype HP:0200129 obsolete Calcific mitral stenosis true HP:0200129 true HP:0200130 true HP:0200131 true HP:0200132 2013-06-11T03:59:35Z UMLS:C2675557 human_phenotype HP:0200133 Lumbosacral meningocele HP:0200133 A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. 2013-06-11T04:02:30Z UMLS:C0543888 Convulsive encephalopathy human_phenotype HP:0200134 Seizures alone without any underlying neurologic or medical illness can be the sole cause of encephalopathy. Patients with seizures as a cause or consequence of encephalopathy present with a wide variety of neurologic symptoms from mild reduction or alteration of consciousness to coma. Findings on neurologic exam are often nonfocal, nonspecific, and not predictive of the presence of seizures. Patients may or may not have subtle motor findings accompanying the presentation of encephalopathy. Signs range from very focal findings, such as nystagmus, eye flutter, blinking, and eye deviation to more widespread signs, such as myoclonus, tremulousness, and autonomic instability. Epileptic encephalopathy HP:0200134 A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. PMID:21590624 PMID:23213494 HP:0000256 human_phenotype HP:0200135 obsolete Macrocephaly due to hydrocephalus true HP:0200135 2013-06-12T11:05:35Z SNOMEDCT_US:71457002 UMLS:C0267071 Oral pharyngeal dysphagia Oropharyngeal dysphagia human_phenotype HP:0200136 Oral-pharyngeal dysphagia HP:0200136 Oral pharyngeal dysphagia https://orcid.org/0000-0001-5208-3432 Oropharyngeal dysphagia https://orcid.org/0000-0001-5889-4463 true HP:0200137 2013-06-12T11:08:52Z UMLS:C4021884 human_phenotype HP:0200138 Bilateral choanal atresia/stenosis HP:0200138 true HP:0200139 true HP:0200140 2013-06-13T11:59:54Z UMLS:C1851883 UMLS:C4280284 UMLS:C4280285 Conical microdontia Small, cone shaped teeth human_phenotype Small, peg shaped teeth Small, pointed teeth HP:0200141 Small, conical teeth HP:0200141 Conical microdontia https://orcid.org/0000-0001-5889-4463 Small, cone shaped teeth https://orcid.org/0000-0001-5889-4463 Small, peg shaped teeth https://orcid.org/0000-0001-5889-4463 Small, pointed teeth https://orcid.org/0000-0001-5889-4463 true HP:0200142 2013-06-13T12:44:34Z UMLS:C1334688 UMLS:C1850020 human_phenotype Bone marrow biopsy shows megaloblastic erythroid hyperplasia HP:0200143 Megaloblastic erythroid hyperplasia HP:0200143 Bone marrow biopsy shows megaloblastic erythroid hyperplasia https://orcid.org/0000-0002-5316-1399 HP:0000979 human_phenotype HP:0200144 obsolete Anaphylactoid purpura true HP:0200144 true HP:0200145 An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). 2013-06-13T12:55:22Z SNOMEDCT_US:234021009 SNOMEDCT_US:42182000 SNOMEDCT_US:45894003 UMLS:C0392775 Cystic medial necrosis of the aorta MEMA human_phenotype HP:0200146 MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive. Mucoid extracellular matrix accumulation HP:0200146 An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). PMID:27031798 MEMA A reduction in the number of nerve cells in the basal ganglia. 2013-06-13T12:59:06Z UMLS:C2750913 human_phenotype HP:0200147 See Fig. 11 in PMID:13729575. Neuronal loss in basal ganglia HP:0200147 A reduction in the number of nerve cells in the basal ganglia. PMID:13729575 https://orcid.org/0000-0002-0736-9199 2013-06-13T01:01:21Z UMLS:C2750654 UMLS:C4021883 Abnormal liver function tests during pregnancy human_phenotype Abnormal liver function tests during pregnancy, resolves postpartum HP:0200148 Abnormal liver function tests during pregnancy HP:0200148 Abnormal liver function tests during pregnancy Abnormal liver function tests during pregnancy, resolves postpartum https://orcid.org/0000-0002-5316-1399 An increased lymphocyte count in the cerebrospinal fluid. 2013-06-13T01:03:23Z SNOMEDCT_US:167719009 UMLS:C0427877 CSF lymphocytosis human_phenotype HP:0200149 CSF lymphocytic pleiocytosis HP:0200149 An increased lymphocyte count in the cerebrospinal fluid. HPO_CONTRIBUTOR:KI_phemming 2013-06-13T01:05:40Z UMLS:C4020695 UMLS:C4021882 human_phenotype Increased serum bile acid concentration during pregnancy, resolves HP:0200150 Increased serum bile acid concentration during pregnancy HP:0200150 Increased serum bile acid concentration during pregnancy, resolves https://orcid.org/0000-0002-5316-1399 Multifocal dense infiltrates of mast cells in cutaneous tissue. 2013-06-14T09:22:02Z SNOMEDCT_US:397012002 SNOMEDCT_US:703827008 UMLS:C1136033 human_phenotype HP:0200151 Cutaneous mastocytosis HP:0200151 Multifocal dense infiltrates of mast cells in cutaneous tissue. PMID:21668033 https://orcid.org/0000-0002-0736-9199 UMLS:C4021881 UMLS:C4227831 Failure of development of lateral incisor human_phenotype Absence of lateral incisor Missing lateral incisor HP:0200153 Agenesis of lateral incisor HP:0200153 Failure of development of lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of lateral incisor https://orcid.org/0000-0001-5889-4463 Missing lateral incisor https://orcid.org/0000-0001-5889-4463 UMLS:C4021880 UMLS:C4280283 Failure of development of mandibular lateral incisor human_phenotype Absence of lower lateral incisor Absence of mandibular lateral incisor Missing lower lateral incisor Missing mandibular lateral incisor HP:0200154 Agenesis of mandibular lateral incisor HP:0200154 Failure of development of mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of lower lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Missing lower lateral incisor https://orcid.org/0000-0001-5889-4463 Missing mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 UMLS:C4021879 UMLS:C4280282 Failure of development of permanent mandibular lateral incisor human_phenotype Absence of adult mandibular lateral incisor Absence of permanent mandibular lateral incisor Missing adult lower lateral incisor Missing permanent mandibular lateral incisor HP:0200158 Agenesis of permanent mandibular lateral incisor HP:0200158 Failure of development of permanent mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of adult mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of permanent mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Missing adult lower lateral incisor https://orcid.org/0000-0001-5889-4463 Missing permanent mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 UMLS:C4021878 UMLS:C4280280 UMLS:C4280281 Agenesis of deciduous mandibular lateral incisor Failure of development of deciduous mandibular lateral incisor Failure of development of primary mandibular lateral incisor human_phenotype Absence of deciduous mandibular lateral incisor Absence of lower front baby tooth Absence of primary mandibular lateral incisor Missing deciduous mandibular lateral incisor Missing primary mandibular lateral incisor HP:0200159 Agenesis of primary mandibular lateral incisor HP:0200159 Agenesis of deciduous mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of deciduous mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Failure of development of primary mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of deciduous mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Absence of lower front baby tooth https://orcid.org/0000-0001-5889-4463 Absence of primary mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Missing deciduous mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 Missing primary mandibular lateral incisor https://orcid.org/0000-0001-5889-4463 UMLS:C4021877 UMLS:C4280278 UMLS:C4280279 Failure of development of maxillary incisor Failure of development of upper incisor Absence of upper front tooth human_phenotype Absence of maxillary incisor Missing upper front tooth Missing upper incisor HP:0200160 Agenesis of maxillary incisor HP:0200160 Failure of development of maxillary incisor https://orcid.org/0000-0001-5889-4463 Failure of development of upper incisor https://orcid.org/0000-0001-5889-4463 Absence of upper front tooth https://orcid.org/0000-0001-5889-4463 Absence of maxillary incisor https://orcid.org/0000-0001-5889-4463 Missing upper front tooth https://orcid.org/0000-0001-5889-4463 Missing upper incisor https://orcid.org/0000-0001-5889-4463 UMLS:C3150012 UMLS:C4021876 UMLS:C4280277 Agenesis of lower incisor Failure of development of mandibular incisor Absence of lower front tooth human_phenotype Absence of lower incisor Absence of mandibular incisor Missing lower front tooth Missing lower incisor HP:0200161 Agenesis of mandibular incisor HP:0200161 Agenesis of lower incisor https://orcid.org/0000-0001-5889-4463 Failure of development of mandibular incisor https://orcid.org/0000-0001-5889-4463 Absence of lower front tooth https://orcid.org/0000-0001-5889-4463 Absence of lower incisor https://orcid.org/0000-0001-5889-4463 Absence of mandibular incisor https://orcid.org/0000-0001-5889-4463 Missing lower front tooth https://orcid.org/0000-0001-5889-4463 Missing lower incisor https://orcid.org/0000-0001-5889-4463 Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. SNOMEDCT_US:471397004 UMLS:C3532221 UMLS:C4021875 Increased height of chin Increased height of menton region Long chin Tall chin Vertical excess of chin Vertical hyperplasia of chin human_phenotype Long lower third of face HP:0400000 Tall chin HP:0400000 Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. PMID:19125436 eom:96d8ca16a3c80216 Increased height of chin https://orcid.org/0000-0001-5889-4463 Increased height of menton region https://orcid.org/0000-0001-5889-4463 Long chin https://orcid.org/0000-0001-5889-4463 Tall chin Vertical excess of chin https://orcid.org/0000-0001-5889-4463 Vertical hyperplasia of chin https://orcid.org/0000-0001-5889-4463 Long lower third of face https://orcid.org/0000-0001-5889-4463 Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. UMLS:C4020916 Chin with vertical crease Chin with vertical furrow Chin with vertical groove Chin with vertical sulcus Chin, vertical crease Cleft chin Vertical chin skin cleft Vertical menton crease human_phenotype HP:0400001 The vertical shape must be distinguished from H-shaped crease of the chin. Chin with vertical crease HP:0400001 Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest. PMID:19125436 eom:8a5493c72e0dd13c Chin with vertical crease Chin with vertical furrow https://orcid.org/0000-0001-5889-4463 Chin with vertical groove https://orcid.org/0000-0001-5889-4463 Chin with vertical sulcus https://orcid.org/0000-0001-5889-4463 Cleft chin Vertical chin skin cleft https://orcid.org/0000-0001-5889-4463 Vertical menton crease https://orcid.org/0000-0001-5889-4463 Folds or ridges within the concha that are distinct from the crus helix. UMLS:C4020915 Concha, Extra Fold human_phenotype HP:0400002 Extra concha fold HP:0400002 Folds or ridges within the concha that are distinct from the crus helix. PMID:19152421 eom:40563f1f62db2319 Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). UMLS:C4021874 human_phenotype HP:0400003 Focal absence of the external ear HP:0400003 Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe). PMID:19152421 eom:5b0e213b31288acd Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. UMLS:C1848657 Long ear Long ears human_phenotype HP:0400004 The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). Long ear HP:0400004 Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. PMID:19152421 eom:2028381d5c61842a Long ear Long ears https://orcid.org/0000-0002-5316-1399 Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. UMLS:C3551041 Short ear Short ears human_phenotype HP:0400005 The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). Short ear HP:0400005 Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. PMID:19152421 eom:2cff5ac9b681fc73 Short ear Short ears https://orcid.org/0000-0002-5316-1399 Frequent menses; menstrual cycles lasting less than 21 days. SNOMEDCT_US:52754008 UMLS:C0032519 human_phenotype HP:0400007 Polymenorrhea HP:0400007 Frequent menses; menstrual cycles lasting less than 21 days. PMID:22594864 Prolonged/excessive menses and bleeding at irregular intervals. SNOMEDCT_US:314631008 SNOMEDCT_US:351814001 UMLS:C0232943 human_phenotype HP:0400008 Menometrorrhagia HP:0400008 Prolonged/excessive menses and bleeding at irregular intervals. PMID:22594864 An abnormality of the vomer. UMLS:C4020914 Abnormality of vomer Abnormality of vomer bone Defect of vomer human_phenotype HP:0410000 Abnormal vomer morphology HP:0410000 Abnormality of vomer bone https://orcid.org/0000-0001-5889-4463 HP:0010289 human_phenotype HP:0410003 obsolete Cleft maxillary alveolus true HP:0410003 HP:0000175 human_phenotype HP:0410004 obsolete Cleft secondary palate true HP:0410004 SNOMEDCT_US:448915004 UMLS:C0432090 Cleft bony palate Cleft of hard palate human_phenotype HP:0410005 Cleft hard palate HP:0410005 Cleft bony palate https://orcid.org/0000-0001-5889-4463 Cleft of hard palate https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Abnormality of the first branch of the internal carotid artery. UMLS:C4073185 Ophthalmic artery anomaly human_phenotype HP:0410006 The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges. Abnormality of ophthalmic artery HP:0410006 Abnormality of the first branch of the internal carotid artery. https://orcid.org/0000-0001-5889-4463 Ophthalmic artery anomaly https://orcid.org/0000-0001-5889-4463 HP:0002763 human_phenotype HP:0410007 obsolete Abnormality of cartilage morphology true HP:0410007 Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. UMLS:C4073187 Abnormality of the peripheral nervous system human_phenotype HP:0410008 Abnormality of the peripheral nervous system HP:0410008 Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. https://orcid.org/0000-0001-5889-4463 Abnormality of the peripheral nervous system Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. UMLS:C4073188 human_phenotype HP:0410009 The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin. Abnormality of the somatic nervous system HP:0410009 Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements. https://orcid.org/0000-0001-5889-4463 Any abnormality of the somatic nerve plexus. UMLS:C4073189 human_phenotype HP:0410010 Abnormality of somatic nerve plexus HP:0410010 Any abnormality of the somatic nerve plexus. https://orcid.org/0000-0001-5889-4463 Any abnormality of the masticatory muscle. UMLS:C4073190 Abnormality of muscles of mastication human_phenotype HP:0410011 Abnormality of masticatory muscle HP:0410011 Any abnormality of the masticatory muscle. https://orcid.org/0000-0001-5208-3432 Any abnormality of the mouth floor. UMLS:C4073191 Abnormality of the floor of mouth Abnormality of the mouth floor human_phenotype HP:0410012 Abnormal mouth floor morphology HP:0410012 Any abnormality of the mouth floor. https://orcid.org/0000-0001-5208-3432 Abnormality of the floor of mouth Abnormality of the mouth floor Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. UMLS:C4073192 human_phenotype HP:0410013 Abnormality of the submandibular region HP:0410013 Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery. https://orcid.org/0000-0001-5208-3432 https://www.dartmouth.edu/~humananatomy/part_8/chapter_49.html An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. UMLS:C4073193 Abnormality of ganglion human_phenotype HP:0410014 Abnormal ganglion morphology HP:0410014 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system. https://en.wikipedia.org/wiki/Ganglion https://orcid.org/0000-0001-5889-4463 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. UMLS:C4073194 Abnormality of ganglion of peripheral nervous system human_phenotype HP:0410015 Abnormal peripheral nervous system ganglion morphology HP:0410015 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system. https://en.wikipedia.org/wiki/Ganglion https://orcid.org/0000-0001-5889-4463 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. UMLS:C4073195 Abnormality of cranial ganglion human_phenotype HP:0410016 Abnormal cranial ganglion morphology HP:0410016 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium. https://en.wikipedia.org/wiki/Ganglion https://orcid.org/0000-0001-5889-4463 Inflammation or infection of the external auditory canal (EAC), the auricle, or both. 2017-03-20T12:08:32Z Otitis externa Swimmer's ear Unusual susceptibility to otitis externa human_phenotype HP:0410017 Otitis externa HP:0410017 Swimmer's ear Increased susceptibility to ear infections as manifested by recurrent episodes of ear infections. 2017-03-20T13:41:01Z Frequent ear infections Recurrent ear infections human_phenotype HP:0410018 Recurrent ear infections HP:0410018 Increased susceptibility to ear infections as manifested by recurrent episodes of ear infections. https://orcid.org/0000-0001-5208-3432 Frequent ear infections Recurrent ear infections Pain that is localized to the region of the upper abdomen immediately below the ribs. 2017-04-11T12:35:23Z Epigastrium pain human_phenotype HP:0410019 Epigastric pain HP:0410019 Pain that is localized to the region of the upper abdomen immediately below the ribs. https://orcid.org/0000-0001-5208-3432 https://www.healthgrades.com/symptoms/epigastric-pain Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. 2017-04-19T10:44:36Z Fish odor Fishy body odor Fishy body odour Fishy odor Fishy odour human_phenotype HP:0410020 Fish odor HP:0410020 Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. http://www.medicinenet.com/fish_odor_syndrome_trimethylaminuria/article.htm Fish odor Fishy body odor https://orcid.org/0000-0002-5316-1399 Fishy body odour Fishy odor Fishy odour Pungent body odor. 2017-04-19T10:44:36Z Musty odor human_phenotype HP:0410021 Musty odor HP:0410021 Musty odor A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). 2017-04-19T10:44:36Z Vaginal fish odor human_phenotype HP:0410022 Vaginal fish odor HP:0410022 A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA). PMID:16086821 Vaginal fish odor An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. 2017-05-05T09:02:26Z human_phenotype HP:0410023 Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy. Abnormal distribution of cell junction proteins in buccal mucosal cells HP:0410023 An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43. PMID:26850880 Any abnormality of the periodontium. 2017-06-20T21:40:50Z Abnormality of the periodontium human_phenotype HP:0410026 Abnormal periodontium morphology HP:0410026 A decrease in the amount of alveolar bone around the root of a tooth. 2017-06-20T21:41:41Z Bone loss around teeth human_phenotype HP:0410027 Alveolar bone loss around teeth HP:0410027 Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. 2017-06-20T21:46:19Z Recurrent herpes labialis human_phenotype HP:0410028 Recurrent oral herpes HP:0410028 A gap in the lip or lips. 2017-06-20T22:17:35Z Cleft lip Cleft of the lip human_phenotype HP:0410030 Cleft lip HP:0410030 Cleft lip Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. 2017-06-20T23:09:33Z human_phenotype HP:0410031 Submucous cleft of soft and hard palate HP:0410031 Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. http://www.cleftline.org/who-we-are/what-we-do/publications/submucous-clefts/ HP:0000193 2017-06-20T18:32:24Z human_phenotype HP:0410032 obsolete Cleft of uvula true HP:0410032 One sided alveolar cleft of the maxilla. 2017-06-20T23:37:01Z human_phenotype HP:0410033 Consider adding additional annotations to specify the completeness of the cleft using 'Incomplete cleft maxillary alveolar ridge' (HP:5201007) or 'Complete cleft maxillary alveolar ridge' (HP:5201008). Unilateral alveolar cleft of maxilla HP:0410033 Nonmidline alveolar cleft of the maxilla. 2017-06-20T23:37:09Z human_phenotype HP:0410034 Consider adding additional annotations to specify the completeness of the cleft using 'Incomplete cleft maxillary alveolar ridge' (HP:5201007) or 'Complete cleft maxillary alveolar ridge' (HP:5201008). Bilateral alveolar cleft of maxilla HP:0410034 Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. 2017-06-22T19:07:54Z Abnormal T lymphocyte activation Abnormal T-cell activation Abnormal T-lymphocyte activation human_phenotype HP:0410035 Abnormal T cell activation HP:0410035 Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. PMID:19132916 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. 2017-09-20T00:22:53Z Fyler:4447 human_phenotype HP:0410042 Abnormal liver morphology HP:0410042 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. MP:0000598 Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). 2017-09-20T00:25:37Z Fyler:4339 human_phenotype HP:0410043 Abnormal neural tube morphology HP:0410043 Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). MP:0002151 HP:0006433 2017-10-16T20:21:52Z human_phenotype HP:0410049 obsolete Abnormal radial ray morphology true HP:0410049 Concetration of 1,5 anhydroglucitol in the blood circulation is below the lower limit of normal. 2018-01-27T00:26:24Z Decreased level of 1,5 anhydroglucitol in serum Decreased level of 1,5-AG in serum Decreased level of 1,5-anhydro-D-glucitol in serum Decreased level of 1,5-anhydroglucitol in serum human_phenotype HP:0410050 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. Decreased circulating 1,5 anhydroglucitol concentration HP:0410050 Concetration of 1,5 anhydroglucitol in the blood circulation is below the lower limit of normal. PMID:16731998 PMID:17659063 PMID:9357814 Decreased level of 1,5-AG in serum http://www.hmdb.ca/metabolites/HMDB0002712 Decreased level of 1,5-anhydroglucitol in serum http://www.hmdb.ca/metabolites/HMDB0002712 The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2018-01-27T01:26:32Z human_phenotype HP:0410051 Increased level of 3-hydroxy-3-methylglutaric acid in urine HP:0410051 The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:15505778 PMID:23705938 An increase in the level of allantoin in the serum. 2018-01-27T01:42:36Z human_phenotype HP:0410052 Increased level of allantoin in serum HP:0410052 An increase in the level of allantoin in the serum. PMID:18636793 An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. 2018-01-27T01:56:05Z HP:0032529 Increased circulating GABA concentration Increased level of GABA in serum Increased level of gamma-aminobutyric acid in serum human_phenotype HP:0410053 Gamma-aminobutyric acid (GABA) is the primary inhibitory neurotransmitter known to counterbalance the action of the excitatory neurotransmitter glutamate. Elevated circulating gamma-aminobutyric acid concentration HP:0410053 An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. PMID:1485027 PMID:25485164 Increased circulating GABA concentration Increased level of GABA in serum A decrease in the level of GABA in the serum. 2018-01-27T01:56:12Z Decreased circulating gamma-aminobutyric acid concentration Decreased level of gamma-aminobutyric acid in serum human_phenotype HP:0410054 Decreased circulating GABA concentration HP:0410054 A decrease in the level of GABA in the serum. PMID:1485027 A decrease in the level of erythritol in the urine. 2018-01-27T02:15:00Z human_phenotype HP:0410055 Decreased level of erythritol in urine HP:0410055 A decrease in the level of erythritol in the urine. PMID:14988808 Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. 2018-01-27T02:15:08Z Decreased level of erythritol in cerebrospinal fluid human_phenotype HP:0410056 Decreased CSF erythritol concentration HP:0410056 Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. PMID:14988808 The concentration of D-threitol in the blood circulation is above the upper limit of normal. 2018-01-27T02:34:34Z Elevated D-threitol concentration Elevated D-threitol level Elevated D-threitol level in blood Elevated circulating D-threitol concentration Increased D-threitol concentration Increased D-threitol level Increased D-threitol level in blood human_phenotype HP:0410057 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. Elevated circulating D-threitol concentration HP:0410057 The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. 2018-01-27T02:34:44Z Increased level of D-threitol in CSF Increased level of D-threitol in cerebrospinal fluid human_phenotype HP:0410058 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. Increased CSF D-threitol concentration HP:0410058 The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. PMID:14988808 An increase in the level of D-threitol in the urine. 2018-01-27T02:34:50Z human_phenotype HP:0410059 D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans. Increased level of D-threitol in urine HP:0410059 An increase in the level of D-threitol in the urine. PMID:14988808 A decrease in the level of D-mannose in the urine. 2018-01-29T22:01:57Z human_phenotype HP:0410060 D-Mannose is the 2-epimer of glucose. Decreased level of D-mannose in urine HP:0410060 A decrease in the level of D-mannose in the urine. PMID:2576290 PMID:29099052 The concentration of galactitol in the blood circulation is above the upper limit of normal. 2018-01-29T22:37:31Z Increased level of galactitol in plasma human_phenotype HP:0410061 Increased circulating galactitol concentration HP:0410061 The concentration of galactitol in the blood circulation is above the upper limit of normal. PMID:11092512 PMID:7671965 An increase in the level of galactitol in the urine. 2018-01-29T22:38:29Z human_phenotype HP:0410062 Galactitol is the reduction product of galactose. Increased level of galactitol in urine HP:0410062 An increase in the level of galactitol in the urine. PMID:11092512 PMID:7671965 An increase in the level of galactonate in the red blood cells. 2018-01-29T22:39:38Z Increased level of galactonate in RBCs Increased level of galactonate in erythrocytes human_phenotype HP:0410063 Increased level of galactonate in red blood cells HP:0410063 An increase in the level of galactonate in the red blood cells. PMID:14680973 Increased level of galactonate in RBCs An increase in the level of galactitol in the red blood cells. 2018-01-29T22:40:39Z Increased level of galactitol in erythrocytes human_phenotype HP:0410064 Increased level of galactitol in red blood cells HP:0410064 An increase in the level of galactitol in the red blood cells. PMID:14680973 An increase in the level of hippuric acid in the blood. 2018-01-29T22:41:34Z Increased level of N-benzoylglycine in blood human_phenotype HP:0410065 Increased level of hippuric acid in blood HP:0410065 An increase in the level of hippuric acid in the blood. PMID:22626821 An increase in the level of hippuric acid in the urine. 2018-01-29T22:42:45Z Increased level of N-benzoylglycine in urine human_phenotype HP:0410066 Increased level of hippuric acid in urine HP:0410066 An increase in the level of hippuric acid in the urine. PMID:19551947 PMID:22626821 An increase in the level of L-fucose in the urine. 2018-01-29T22:55:21Z human_phenotype HP:0410067 Fucose is a hexose deoxy sugar with the chemical formula C6H12O5. Increased level of L-fucose in urine HP:0410067 An increase in the level of L-fucose in the urine. PMID:2311216 HP:0500149 2018-01-29T22:56:49Z human_phenotype HP:0410068 obsolete Increased level of L-glutamic acid in blood true HP:0410068 An increase in the level of propylene glycol in the blood. 2018-01-29T22:57:39Z Increased level of propane-1,2-diol in blood human_phenotype HP:0410069 Increased level of propylene glycol in blood HP:0410069 An increase in the level of propylene glycol in the blood. PMID:3426740 An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. 2018-01-29T22:58:41Z human_phenotype HP:0410070 Increased level of ribitol in urine HP:0410070 An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. PMID:14988808 PMID:26054712 The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. 2018-01-29T22:59:19Z Increased level of ribitol in cerebrospinal fluid human_phenotype HP:0410071 Increased CSF ribitol concentration HP:0410071 The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. PMID:14988808 An increase in the level of ribose in the urine. 2018-01-30T00:47:12Z human_phenotype HP:0410072 Ribose is a pentose monosaccharide. Increased level of ribose in urine HP:0410072 An increase in the level of ribose in the urine. PMID:14988808 The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. 2018-01-30T00:47:46Z Increased level of ribose in CSF Increased level of ribose in cerebrospinal fluid human_phenotype HP:0410073 Increased CSF ribose concentration HP:0410073 The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. PMID:14988808 An increase in the level of xylitol in the urine. 2018-01-30T00:49:41Z human_phenotype HP:0410074 Increased level of xylitol in urine HP:0410074 An increase in the level of xylitol in the urine. PMID:14988808 The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. 2018-01-30T00:50:08Z Increased level of xylitol in CSF Increased level of xylitol in cerebrospinal fluid human_phenotype HP:0410075 Increased CSF xylitol concentration HP:0410075 The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. PMID:14988808 An increase in the level of L-pyroglutamic acid in the urine. 2018-02-22T18:07:36Z Elevated urine 5-oxoproline Increased level of 5-oxo-L-proline in urine human_phenotype HP:0410132 Increased level of L-pyroglutamic acid in urine HP:0410132 An increase in the level of L-pyroglutamic acid in the urine. PMID:10094443 PMID:4557757 Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. 2018-03-02T19:33:51Z CIU CSU Chronic idiopathic urticaria Chronic spontaneous urticaria human_phenotype HP:0410133 Chronic urticaria HP:0410133 Urticaria characterized by spontaneously recurring hives for 6 weeks or longer. PMID:25807072 CIU PMID:25807072 CSU PMID:25807072 Chronic spontaneous urticaria PMID:25807072 Urticaria caused by physical agents, such as heat, cold, light, friction. 2018-03-02T19:37:30Z human_phenotype HP:0410134 Physical urticaria HP:0410134 Urticaria caused by physical agents, such as heat, cold, light, friction. PMID:11702618 Urticaria may be caused by cold temperatures. 2018-03-02T19:45:27Z human_phenotype HP:0410135 Cold urticaria HP:0410135 Urticaria may be caused by cold temperatures. PMID:11702618 A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. 2018-03-02T19:52:44Z human_phenotype HP:0410136 Aquagenic urticaria HP:0410136 A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin. PMID:22346281 Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. 2018-03-02T20:07:52Z human_phenotype HP:0410137 Solar urticaria HP:0410137 Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light. PMID:29315482 Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. 2018-03-02T20:14:35Z human_phenotype HP:0410138 Vibratory urticaria HP:0410138 Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. PMID:26841242 Anaphylaxis after physical activity. 2018-03-02T20:22:59Z human_phenotype HP:0410139 Exercise induced anaphylaxis HP:0410139 Anaphylaxis after physical activity. PMID:7400473 An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. 2018-03-12T20:12:17Z Abnormal biotinidase level human_phenotype HP:0410144 Abnormal circulating biotinidase concentration HP:0410144 An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. PMID:29359854 Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. 2018-03-12T20:14:33Z Decreased biotinidase level human_phenotype HP:0410145 Decreased circulating biotinidase concentration HP:0410145 Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. PMID:29359854 Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. 2018-03-12T20:15:15Z Increased biotinidase level human_phenotype HP:0410146 Elevated circulating biotinidase concentration HP:0410146 Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. PMID:29359854 Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. 2018-03-12T20:54:48Z Eosinophilic gastritis human_phenotype HP:0410147 Eosinophilic infiltration in the stomach mucosa HP:0410147 Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia. PMID:23904840 https://orcid.org/0000-0001-5208-3432 A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. 2018-03-12T21:12:08Z human_phenotype HP:0410148 Idiopathic anaphylaxis HP:0410148 A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. PMID:28890861 A form of anaphylaxis that is triggered by intake of drugs or medications. 2018-03-12T21:33:42Z Drug induced anaphylaxis human_phenotype HP:0410149 Drug-induced anaphylaxis HP:0410149 A form of anaphylaxis that is triggered by intake of drugs or medications. PMID:29135486 Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. 2018-03-13T04:36:03Z Eosinophilic esophagitis Eosinophilic infiltration of the esophagus human_phenotype HP:0410151 Eosinophilic infiltration of the esophagus HP:0410151 Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. PMID:27158535 The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. 2018-03-13T04:43:53Z Eosinophilic micro-abscess formation in the esophagus Eosinophilic micro-abscess formation in the oesophagus Eosinophilic microabscess formation in the esophagus human_phenotype HP:0410152 Eosinophilic microabscess formation in the esophagus HP:0410152 The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques. PMID:27158535 Eosinophilic micro-abscess formation in the oesophagus The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2018-03-27T21:49:40Z Increased level of pyrotartaric acid in urine human_phenotype HP:0410153 Increased level of methylsuccinic acid in urine HP:0410153 The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:16828325 PMID:19343532 PMID:3571488 PMID:6616873 Increased level of pyrotartaric acid in urine PMID:16828325 PMID:19343532 PMID:3571488 PMID:6616873 The concentration of myristic acid in the blood circulation is above the upper limit of normal. 2018-03-27T21:58:16Z Elevated circulating myristic acid concentration Elevated myristic acid concentration Elevated myristic acid level Elevated myristic acid level in blood Increased level of tetradecanoic acid in serum Increased myristic acid concentration Increased myristic acid level Increased myristic acid level in blood human_phenotype HP:0410154 Elevated circulating myristic acid concentration HP:0410154 An increase in the level of N-acetylneuraminic acid in the urine. 2018-03-28T00:27:38Z Increased urinary sialic acid Increased level of NANA in urine Increased level of Neu5Ac in urine human_phenotype HP:0410156 N-Acetylneuraminic acid (Neu5Ac or NANA) is the predominant sialic acid found in human cells. Increased level of N-acetylneuraminic acid in urine HP:0410156 An increase in the level of N-acetylneuraminic acid in the urine. PMID:7398077 An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. 2018-03-28T19:40:00Z Increased level of NANA in fibroblasts Increased level of Neu5Ac in fibroblasts Increased level of sialic acid in fibroblasts human_phenotype HP:0410157 Increased level of N-acetylneuraminic acid in fibroblasts HP:0410157 An increase in the level of N-acetylneuraminic acid in cultured fibroblasts. PMID:11992753 HP:0003239 2018-03-28T19:43:27Z Increased level of O-phosphoethanolamine in urine human_phenotype HP:0410158 obsolete Increased urine O-phosphoethanolamine level true HP:0410158 A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. 2018-05-01T17:32:00Z human_phenotype HP:0410166 Defective interstrand cross-link repair HP:0410166 A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. GO:0036297 PMID:16464006 PMID:22064477 Any abnormality of the chest muscles. 2018-05-01T17:37:03Z Muscle issues in the chest Abnormality of the chest musculature human_phenotype HP:0410167 Abnormal morphology of the chest musculature HP:0410167 Muscle issues in the chest Any abnormality of the back muscles. 2018-05-01T17:38:59Z Muscle issues in the back human_phenotype HP:0410168 Abnormality of the back musculature HP:0410168 Muscle issues in the back A structural abnormality of the shoulder (glenohumeral) muscles, which comprise the rotator cuff (supraspinatus, infraspinatus, teres minor, subscapularis), the deltoid, the latissimus dorsi, and the pectoralis major. 2018-05-01T17:39:54Z Abnormality of the shoulder musculature Muscle issues in the shoulder human_phenotype HP:0410169 Abnormal morphology of the shoulder musculature HP:0410169 A structural abnormality of the shoulder (glenohumeral) muscles, which comprise the rotator cuff (supraspinatus, infraspinatus, teres minor, subscapularis), the deltoid, the latissimus dorsi, and the pectoralis major. PMID:30725618 Muscle issues in the shoulder Partial or complete wasting (loss) of hippocampus tissue that was once present. 2018-05-07T18:29:30Z Atrophy of the hippocampus Degeneration of the hippocampus human_phenotype HP:0410170 The hippocampus is part of the temporal cortex (albeit allocortex rather than neocortex). Hippocampal atrophy HP:0410170 Increased concentration of cotinine in urine. 2018-05-18T17:47:54Z human_phenotype HP:0410171 Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke. Increased cotinine level HP:0410171 The presence of a xenobiotic in blood. 2018-05-18T18:31:08Z human_phenotype HP:0410172 Blood xenobiotic HP:0410172 An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. 2018-05-18T20:20:47Z Increased troponin I level in blood human_phenotype HP:0410173 Increased circulating troponin I concentration HP:0410173 An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. 2018-05-18T20:21:02Z Increased troponin T level in blood human_phenotype HP:0410174 Increased circulating troponin T concentration HP:0410174 An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. PMID:15452153 An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. 2018-05-21T17:36:23Z Elevated circulating ketone body concentration Increased level of ketone bodies in blood Ketonemia human_phenotype HP:0410175 Hyperketonemia HP:0410175 An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. PMID:27036365 Increased level of ketone bodies in blood An anomaly in the level of glucose-6-phosphate dehydrogenase. 2018-05-21T17:49:08Z HP:0410177 Abnormal G6PD level Abnormal G6PD level in blood Abnormal glucose-6-phosphate dehydrogenase level Abnormal glucose-6-phosphate dehydrogenase level in blood human_phenotype HP:0410176 Abnormal circulating glucose-6-phosphate dehydrogenase concentration HP:0410176 An anomaly in the level of glucose-6-phosphate dehydrogenase. PMID:24787449 Abnormal G6PD level HP:0410176 2018-05-21T17:54:53Z human_phenotype HP:0410177 obsolete Abnormal glucose-6-phosphate dehydrogenase level in blood true HP:0410177 The activity of glucose-6-phosphate dehydrogenase in the blood circulation is above the upper limit of normal. 2018-05-21T17:55:36Z Elevated circulating glucose-6-phosphate dehydrogenase activity Elevated glucose-6-phosphate dehydrogenase concentration Elevated glucose-6-phosphate dehydrogenase level Elevated glucose-6-phosphate dehydrogenase level in blood Increased G6PD level in blood Increased glucose-6-phosphate dehydrogenase concentration Increased glucose-6-phosphate dehydrogenase level Increased glucose-6-phosphate dehydrogenase level in blood human_phenotype HP:0410178 Elevated circulating glucose-6-phosphate dehydrogenase activity HP:0410178 Increased G6PD level in blood The activity of glucose-6-phosphate dehydrogenase in the blood circulation is below the lower limit of normal. 2018-05-21T17:55:41Z Decreased G6PD level in blood Decreased circulating glucose-6-phosphate dehydrogenase activity Decreased glucose-6-phosphate dehydrogenase concentration Decreased glucose-6-phosphate dehydrogenase level Decreased glucose-6-phosphate dehydrogenase level in blood Reduced glucose-6-phosphate dehydrogenase concentration Reduced glucose-6-phosphate dehydrogenase level Reduced glucose-6-phosphate dehydrogenase level in blood human_phenotype HP:0410179 Decreased circulating glucose-6-phosphate dehydrogenase activity HP:0410179 Decreased G6PD level in blood An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. 2018-05-21T17:57:23Z Abnormal G6PD level in dried blood spot Abnormal glucose-6-phosphate dehydrogenase level in DBS human_phenotype HP:0410180 Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410180 An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. PMID:28479150 Abnormal G6PD level in dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. 2018-05-21T17:58:20Z Increased G6PD level in dried blood spot Increased glucose-6-phosphate dehydrogenase level in DBS human_phenotype HP:0410181 Increased glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410181 An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. PMID:28479150 Increased G6PD level in dried blood spot A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. 2018-05-21T17:58:29Z Decreased G6PD level in dried blood spot Decreased glucose-6-phosphate dehydrogenase level in DBS human_phenotype HP:0410182 Decreased glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410182 A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot. PMID:28479150 Decreased G6PD level in dried blood spot An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. 2018-05-21T18:00:54Z Abnormal G6PD level in leukocytes human_phenotype HP:0410183 Abnormal glucose-6-phosphate dehydrogenase level in leukocytes HP:0410183 An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes. https://doi.org/10.1016/B978-0-12-383834-6.00086-0 Abnormal G6PD level in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. 2018-05-21T18:01:06Z Abnormal G6PD level in RBCs Abnormal G6PD level in red blood cells Abnormal glucose-6-phosphate dehydrogenase level in red blood cells human_phenotype HP:0410184 Abnormal erythrocyte glucose-6-phosphate dehydrogenase concentration HP:0410184 An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. PMID:18942156 Abnormal G6PD level in RBCs Abnormal G6PD level in red blood cells An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue. 2018-05-21T18:01:15Z Abnormal G6PD level in tissue human_phenotype HP:0410185 Abnormal glucose-6-phosphate dehydrogenase level in tissue HP:0410185 Abnormal G6PD level in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue. 2018-05-21T18:03:24Z Increased G6PD level in tissue human_phenotype HP:0410186 Increased glucose-6-phosphate dehydrogenase level in tissue HP:0410186 Increased G6PD level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. 2018-05-21T18:03:29Z Decreased G6PD level in tissue human_phenotype HP:0410187 Decreased glucose-6-phosphate dehydrogenase level in tissue HP:0410187 Decreased G6PD level in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. 2018-05-21T18:03:36Z Decreased G6PD level in RBCs Decreased G6PD level in red blood cells Decreased glucose-6-phosphate dehydrogenase level in red blood cells human_phenotype HP:0410188 Decreased erythrocyte glucose-6-phosphate dehydrogenase concentration HP:0410188 A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells. PMID:18942156 Decreased G6PD level in RBCs Decreased G6PD level in red blood cells An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells. 2018-05-21T18:03:42Z Increased G6PD level in RBCs Increased G6PD level in red blood cells Increased glucose-6-phosphate dehydrogenase level in red blood cells human_phenotype HP:0410189 Increased erythrocyte glucose-6-phosphate dehydrogenase concentration HP:0410189 Increased G6PD level in RBCs Increased G6PD level in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. 2018-05-21T18:04:02Z Decreased G6PD level in leukocytes human_phenotype HP:0410190 Decreased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410190 A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes. https://doi.org/10.1016/B978-0-12-383834-6.00086-0 Decreased G6PD level in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes. 2018-05-21T18:04:08Z Increased G6PD level in leukocytes human_phenotype HP:0410191 Increased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410191 Increased G6PD level in leukocytes HP:0410193 2018-05-21T11:41:30Z human_phenotype HP:0410192 obsolete Abnormal uridine diphosphate glucose-4-epimerase level true HP:0410192 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:23:41Z HP:0410192 Abnormal UDP-glucose 4-epimerase activity level in plasma Abnormal circulating uridine diphosphate glucose-4-epimerase concentration Abnormal uridine diphosphate glucose-4-epimerase level in plasma human_phenotype HP:0410193 Abnormal circulating UDP glucose-4-epimerase concentration HP:0410193 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:23:47Z Increased UDP-glucose 4-epimerase level in plasma Increased circulating uridine diphosphate glucose-4-epimerase concentration Increased uridine diphosphate glucose-4-epimerase level in plasma human_phenotype HP:0410194 Increased circulating UDP glucose-4-epimerase concentration HP:0410194 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:23:54Z Decreased UDP glucose-4-epimerase level in plasma Decreased UDP-glucose 4-epimerase level in plasma Decreased circulating uridine diphosphate glucose-4-epimerase concentration Decreased uridine diphosphate glucose-4-epimerase level in plasma human_phenotype HP:0410195 Decreased circulating UDP glucose-4-epimerase concentration HP:0410195 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:24:02Z Abnormal UDP-glucose 4-epimerase level in RBCs Abnormal UDP-glucose 4-epimerase level in red blood cells Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells human_phenotype HP:0410196 Abnormal erythrocyte UDP glucose-4-epimerase concentration HP:0410196 Abnormal UDP-glucose 4-epimerase level in RBCs Abnormal UDP-glucose 4-epimerase level in red blood cells An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:24:12Z Increased UDP-glucose 4-epimerase level in RBCs Increased UDP-glucose 4-epimerase level in red blood cells Increased uridine diphosphate glucose-4-epimerase level in red blood cells human_phenotype HP:0410197 Increased erythrocyte UDP glucose-4-epimerase concentration HP:0410197 Increased UDP-glucose 4-epimerase level in RBCs Increased UDP-glucose 4-epimerase level in red blood cells A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. 2018-05-21T18:24:19Z Decreased UDP-glucose 4-epimerase level in RBCs Decreased UDP-glucose 4-epimerase level in red blood cells Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration Decreased uridine diphosphate glucose-4-epimerase level in red blood cells human_phenotype HP:0410198 Decreased erythrocyte UDP glucose-4-epimerase concentration HP:0410198 Decreased UDP-glucose 4-epimerase level in RBCs Decreased UDP-glucose 4-epimerase level in red blood cells Increased concentration of urate in the cerebrospinal fluid. 2018-07-20T22:56:41Z Elevated CSF urate concentration Increased cerebrospinal fluid urate human_phenotype HP:0410199 Increased CSF urate concentration HP:0410199 Elevated CSF urate concentration Detection of barbiturate metabolites such as phenobarbital in meconium. 2018-07-20T23:02:36Z human_phenotype HP:0410200 Positive meconium barbiturate test HP:0410200 Detection of barbiturate metabolites such as phenobarbital in the hair. 2018-07-20T23:03:14Z human_phenotype HP:0410201 Positive hair barbiturate test HP:0410201 Detection of barbiturate metabolites such as phenobarbital in the stool. 2018-07-20T23:04:11Z human_phenotype HP:0410202 Positive stool barbiturate test HP:0410202 Detection of barbiturate metabolites such as phenobarbital in the gastric fluid. 2018-07-20T23:04:36Z human_phenotype HP:0410203 Positive gastric fluid barbiturate test HP:0410203 An increase in the length of time required for food to pass through the intestines. 2018-08-15T02:19:44Z human_phenotype HP:0410204 Increased intestinal transit time HP:0410204 An increase in the length of time required for food to pass through the intestines. PMID:22206545 Any deviation from the normal concentration of nicotinurate in the blood. 2018-09-11T23:40:08Z Abnormal circulating N-nicotinoylglycine level Abnormal circulating nicotinurate level human_phenotype HP:0410205 Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. Abnormal circulating nicotinurate concentration HP:0410205 Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid. PMID:3243933 An increased amount of nicotinurate in the blood. 2018-09-11T23:40:36Z Increased circulating N-nicotinoylglycine level human_phenotype HP:0410206 Increased circulating nicotinurate level HP:0410206 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum. 2018-09-11T23:47:39Z human_phenotype HP:0410207 Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency. Positive methadone plasma/serum test HP:0410207 Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. 2018-09-11T23:57:25Z human_phenotype HP:0410208 Cotinine is used as a biomarker for exposure to tobacco smoke. Positive plasma/serum cotinine test HP:0410208 Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum. PMID:10027825 A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. 2018-09-12T00:12:26Z Folate deficiency in cerebrospinal fluid human_phenotype HP:0410209 Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system. Folate deficiency in CSF HP:0410209 A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid. PMID:15581159 An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. 2018-09-12T00:35:41Z human_phenotype HP:0410210 Abnormal cord blood measurement HP:0410210 An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level. PMID:7926229 2018-09-12T00:44:12Z human_phenotype HP:0410211 Abnormal blood gas level in cord blood HP:0410211 An abnormally high level of blood oxygen in the cord blood. 2018-09-12T00:44:20Z High cord blood oxygen level human_phenotype HP:0410212 Hyperoxemia in cord blood HP:0410212 High cord blood oxygen level An abnormally low level of blood oxygen in the cord blood. 2018-09-12T00:44:25Z Low cord blood oxygen level human_phenotype HP:0410213 Hypoxemia in cord blood HP:0410213 Low cord blood oxygen level Abnormally elevated blood carbon dioxide (CO2) level in the cord blood. 2018-09-12T00:44:30Z High cord blood carbon dioxide level human_phenotype HP:0410214 Hypercapnia in cord blood HP:0410214 High cord blood carbon dioxide level Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. 2018-09-12T00:44:35Z Low cord blood carbon dioxide level human_phenotype HP:0410215 Hypocapnia in cord blood HP:0410215 Low cord blood carbon dioxide level An abnormal concentration of 5-methyltetrahydrofolate (5-MTHF) in the blood. 2018-09-12T00:50:35Z Abnormal blood 5-methyltetrahydrofolate level Abnormal serum methylfolate Level human_phenotype HP:0410216 5-Methyltetrahydrofolate (levomefolic acid) is the primary biologically active, chemically reduced form of vitamin B9 (folate). Abnormal circulating 5-methyltetrahydrofolate concentration HP:0410216 A decreased concentration of 5-methyltetrahydrofolate in the blood. 2018-09-12T00:51:49Z Reduced serum methylfolate Level human_phenotype HP:0410217 Reduced blood 5-methyltetrahydrofolate level HP:0410217 Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). 2018-09-25T00:46:15Z Disorder of maxillary and mandibular dental arch relationship human_phenotype HP:0410218 Hypoplasia of maxilla relative to mandible HP:0410218 Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw). https://orcid.org/0000-0001-5889-4463 https://www.researchgate.net/publication/277918795_Nonsyndromic_oligodontia_A_rare_case_report Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). 2018-09-25T00:54:14Z Disorder of mandibular and maxillary dental arch relationship human_phenotype HP:0410219 Hypoplasia of mandible relative to maxilla HP:0410219 Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). https://orcid.org/0000-0001-5889-4463 Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. 2018-10-03T16:47:11Z human_phenotype Increased anti-dairy IgE antibody level HP:0410220 Increased anti-dairy protein IgE antibody level HP:0410220 Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products. PMID:26433529 Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. 2018-10-03T16:51:13Z Increased level of anti-animal protein IgE antibody human_phenotype HP:0410221 For animal dander annotations, there is a more specific subclass of this term. Increased anti-animal protein IgE antibody level HP:0410221 Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine. PMID:8543754 Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. 2018-10-03T16:51:45Z Increased level of anti-seafood IgE antibody human_phenotype HP:0410222 Increased anti-seafood IgE antibody level HP:0410222 Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone. PMID:14719162 Increased level of IgE antibody against dust mites, such as house dust mites. 2018-10-03T16:52:07Z Increased level of anti-dust mite IgE antibody human_phenotype HP:0410223 Increased anti-dust mite IgE antibody level HP:0410223 Increased level of IgE antibody against dust mites, such as house dust mites. https://www.atsjournals.org/doi/abs/10.1164/arrd.1982.125.1.80 Increased level of IgE antibody against bacteria. 2018-10-03T16:52:57Z Increased level of anti-bacteria IgE antibody human_phenotype HP:0410224 Increased anti-bacteria IgE antibody level HP:0410224 Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. 2018-10-03T18:09:35Z Increased level of anti-drug IgE antibody human_phenotype HP:0410225 Increased anti-drug IgE antibody level HP:0410225 Increased level of IgE antibody against a drug or class of drugs, such as antibiotics. PMID:7835691 Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. 2018-10-03T18:40:30Z human_phenotype HP:0410226 Increased anti-feather IgE antibody level HP:0410226 Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers. PMID:9534914 Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. 2018-10-03T21:27:03Z Increased level of anti-food allergen IgE antibody human_phenotype HP:0410227 Increased anti-food allergen IgE antibody level HP:0410227 Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish. PMID:23229594 Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. 2018-10-03T21:28:37Z Increased level of anti-plant based food allergen IgE antibody human_phenotype HP:0410228 Increased anti-plant based food allergen IgE antibody level HP:0410228 Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits. PMID:26549334 Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. 2018-10-03T21:29:41Z Increased level of anti-gluten IgE antibody human_phenotype HP:0410229 Increased anti-gluten IgE antibody level HP:0410229 Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye. PMID:25788950 Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. 2018-10-03T21:34:16Z human_phenotype HP:0410230 Increased anti-nut food product IgE antibody level HP:0410230 Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds. PMID:12915766 PMID:23229594 Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. 2018-10-03T21:39:10Z human_phenotype HP:0410231 Increased anti-egg IgE antibody level HP:0410231 Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid. PMID:11591198 Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. 2018-10-03T21:57:01Z Increased anti-fungal IgE antibody level Increased anti-fungus IgE antibody level human_phenotype HP:0410232 Increased anti-fungi IgE antibody level HP:0410232 Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota. PMID:12402012 Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. 2018-10-03T22:02:09Z human_phenotype HP:0410233 Increased anti-meat allergen IgE antibody level HP:0410233 Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken. PMID:30182427 Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. 2018-10-03T22:42:54Z human_phenotype HP:0410234 Increased anti-parasite IgE antibody level HP:0410234 Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii. https://doi.org/10.1007/s40475-015-0058-7 Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. 2018-10-03T22:38:30Z human_phenotype HP:0410235 Increased anti-insect IgE antibody level HP:0410235 Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches. PMID:21913205 Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. 2018-10-03T22:40:21Z human_phenotype HP:0410236 Increased anti-venom IgE antibody level HP:0410236 Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets. PMID:21913205 Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen. 2018-10-03T23:09:00Z human_phenotype HP:0410238 Increased anti-plant product IgE antibody level HP:0410238 Detection of norcotinine, a metabolite of nicotine, in urine. 2018-10-09T23:11:26Z human_phenotype HP:0410239 Positive urine norcotinine test HP:0410239 An abnormal deviation from normal levels of IgA immunoglobulin in blood. 2018-10-12T20:32:11Z Abnormal IgA level in blood Abnormal circulating IgA level human_phenotype HP:0410240 Abnormal circulating IgA concentration HP:0410240 An abnormal deviation from normal levels of IgE immunoglobulin in blood. 2018-10-12T20:32:27Z Abnormal IgE level in blood Abnormal circulating IgE level human_phenotype HP:0410241 Abnormal circulating IgE concentration HP:0410241 An abnormal deviation from normal levels of IgG immunoglobulin in blood. 2018-10-12T20:32:38Z Abnormal IgG level in blood Abnormal circulating IgG level human_phenotype HP:0410242 Abnormal circulating IgG concentration HP:0410242 An abnormal deviation from normal levels of IgM immunoglobulin in blood. 2018-10-12T20:32:45Z Abnormal IgM level in blood Abnormal circulating IgM level human_phenotype HP:0410243 Abnormal circulating IgM concentration HP:0410243 An abnormal deviation from normal levels of IgD immunoglobulin in blood. 2018-10-12T20:42:13Z Abnormal IgD level in blood Abnormal circulating IgD level human_phenotype HP:0410244 Abnormal circulating IgD concentration HP:0410244 An abnormally decreased level of immunoglobulin D (IgD) in blood. 2018-10-12T20:43:37Z Decreased IgD Decreased IgD in blood Decreased circulating IgD IgD deficiency human_phenotype HP:0410245 Decreased circulating IgD concentration HP:0410245 An abnormally increased level of immunoglobulin D in blood. 2018-10-12T20:43:48Z Elevated IgD Elevated serum IgD IgD hypergammaglobulinemia Increased IgD level Increased circulating IgD level Increased levels of IgD Increased serum IgD human_phenotype HP:0410246 Increased circulating IgD concentration HP:0410246 Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats. 2018-10-12T20:49:45Z Increased level of anti-dander IgE antibody human_phenotype HP:0410247 Increased anti-animal dander IgE antibody level HP:0410247 Increased level of IgE antibody against house dust mites, a common allergen. 2018-10-12T20:56:01Z Increased anti-house dust IgE antibody level Increased level of anti-house dust IgE antibody human_phenotype HP:0410248 Increased anti-house dust mite IgE antibody level HP:0410248 Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. 2018-10-15T17:54:02Z Increased anti-galactose-alpha-1, 3 galactose IgE antibody level human_phenotype HP:0410249 Increased anti-alpha-gal IgE antibody level HP:0410249 Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat. PMID:29986992 Abnormal decrease of neutrophil activation following toll-like receptor (TLR) ligation, commonly measured by evaluation of CD62L shedding after stimulation with lipopolysaccharide (LPS) using flow cytometry. 2018-10-19T17:56:39Z Abnormal L-selectin shedding human_phenotype HP:0410251 An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection. Decreased neutrophil toll-like receptor signalling HP:0410251 Abnormal decrease of neutrophil activation following toll-like receptor (TLR) ligation, commonly measured by evaluation of CD62L shedding after stimulation with lipopolysaccharide (LPS) using flow cytometry. PMID:16426002 PMID:8614468 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for 3 or more months. 2018-10-19T18:25:23Z Chronic neutropenia human_phenotype HP:0410252 Often defined as neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. Persistently decreased total neutrophil count HP:0410252 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for 3 or more months. PMID:23953336 Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. 2018-10-19T18:41:56Z Myeloid maturation arrest in bone marrow human_phenotype HP:0410253 Myeloid maturation arrest HP:0410253 Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. PMID:23233578 Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. 2018-10-19T18:52:02Z human_phenotype HP:0410254 Cyclic neutropenia in myeloid maturation arrest in bone marrow HP:0410254 Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow. PMID:23233578 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for less than 3 months and then spontaneously recovers, but does not recur cyclically. 2018-10-19T18:57:52Z Transient neutropenia human_phenotype HP:0410255 Transiently decreased total neutrophil count HP:0410255 Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for less than 3 months and then spontaneously recovers, but does not recur cyclically. PMID:23953336 Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. 2018-10-19T19:13:46Z human_phenotype HP:0410256 Infection associated neutropenia HP:0410256 Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. PMID:23953336 An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. 2018-10-19T19:22:50Z human_phenotype HP:0410257 Neutrophilia in presence of infection HP:0410257 An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus. PMID:27543669 An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. 2018-10-19T19:23:14Z human_phenotype HP:0410258 Neutrophilia in absence of infection HP:0410258 An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders. PMID:24050624 Fusion of the liver with the lung. 2018-10-19T21:35:39Z Hepatic pulmonary fusion human_phenotype HP:0410259 Hepatopulmonary fusion HP:0410259 Fusion of the liver with the lung. PMID:28196822 The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. 2018-10-19T21:42:53Z Asymmetrical buttock crease Asymmetrical gluteal sulcus Asymmetrical horizontal gluteal crease human_phenotype HP:0410260 Asymmetrical gluteal crease HP:0410260 The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg. PMID:29701087 A widely spaced gap between the fourth toe and the fifth (pinky) toe. 2018-10-19T22:00:03Z Wide space between the 4th and 5th toe human_phenotype HP:0410261 Wide space between 4th and 5th toe HP:0410261 A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. 2018-10-19T22:03:52Z Abnormal lower cranial nerve function human_phenotype HP:0410262 Lower cranial nerve dysfunction HP:0410262 A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. PMID:26167022 An anomaly of metabolism or structure of the brain identified by imaging. 2018-10-19T22:17:24Z Abnormal brain imaging human_phenotype HP:0410263 Brain imaging abnormality HP:0410263 A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. 2018-10-30T01:47:40Z Airway hemangioma human_phenotype HP:0410264 Subglottic hemangioma HP:0410264 A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway. PMID:30174006 A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. 2018-10-30T01:49:01Z human_phenotype HP:0410265 Supraglottic hemangioma HP:0410265 A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords. PMID:16866116 A hemangioma arising from within visceral structures, the internal organs of the body. 2018-10-30T01:56:12Z human_phenotype HP:0410266 Visceral hemangioma HP:0410266 A hemangioma arising from within visceral structures, the internal organs of the body. https://doi.org/10.1016/j.epsc.2014.06.004 A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. 2018-10-30T01:56:39Z Bowel hemangioma Intestinal hemangiomas human_phenotype HP:0410267 Intestinal hemangioma HP:0410267 A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel. https://orcid.org/0000-0001-5208-3432 Intestinal hemangiomas A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. 2018-10-30T01:57:13Z Splenic hemangioma human_phenotype HP:0410268 Spleen hemangioma HP:0410268 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen. PMID:11307096 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. 2018-10-30T02:07:28Z human_phenotype HP:0410269 Labial hemangioma HP:0410269 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip. http://www.jpss.eu/index.php/current-issue/item/457-forty-four-cases-of-labial-hemangioma-therapeutic-management A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. 2018-10-30T02:10:29Z human_phenotype HP:0410270 Esophageal hemangioma HP:0410270 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus. PMID:10626176 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. 2018-10-30T02:15:03Z Throat hemangioma human_phenotype HP:0410271 Laryngeal hemangioma HP:0410271 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions. PMID:28419860 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. 2018-10-30T02:17:19Z human_phenotype HP:0410272 Vulvar hemangioma HP:0410272 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva. PMID:29980161 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. 2018-10-30T02:17:49Z NCIT:C3085 human_phenotype HP:0410273 Retropharyngeal hemangioma HP:0410273 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx. PMID:26011223 UBERON:0035619 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. 2018-10-30T02:21:30Z human_phenotype HP:0410274 Paraspinal hemangioma HP:0410274 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine. http://ispub.com/IJOS/11/1/8101# A spinal cord hemangioma located in the lumbosacral spine region. 2018-10-30T02:21:55Z Lumbar/sacral hemangioma human_phenotype HP:0410275 Lumbosacral hemangioma HP:0410275 A spinal cord hemangioma located in the lumbosacral spine region. PMID:25449217 An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). 2018-10-30T18:16:55Z Midline supraumbilical raphe human_phenotype HP:0410276 Supraumbilical raphe HP:0410276 An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). PMID:24075092 https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. 2018-10-30T18:23:42Z human_phenotype HP:0410277 Sternal pit HP:0410277 A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum. https://www.chw.org/medical-care/birthmarks-and-vascular-anomalies-center/conditions/phace-syndrome/phace-syndrome-handbook/ventral-or-midline-abnormalities A fluid-filled sacs that develop on or near the pituitary gland. 2018-10-30T19:49:29Z Cyst of the pituitary gland human_phenotype HP:0410278 Pituitary gland cyst HP:0410278 A fluid-filled sacs that develop on or near the pituitary gland. https://www.chop.edu/conditions-diseases/pituitary-cysts Partial or complete wasting (loss) of the pituitary gland. 2018-10-30T19:54:09Z Atrophic pituitary Pituitary gland atrophy human_phenotype HP:0410279 Atrophic pituitary gland HP:0410279 Partial or complete wasting (loss) of the pituitary gland. DOI:10.1530/endoabs.44.EP82 Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. 2018-11-01T15:27:45Z Onset before adulthood Paediatric onset human_phenotype HP:0410280 Pediatric onset HP:0410280 Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. https://orcid.org/0000-0002-0843-4271 Paediatric onset A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. 2018-11-06T23:08:26Z Indigestion human_phenotype HP:0410281 Dyspepsia HP:0410281 A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. PMID:23399526 Indigestion https://orcid.org/0000-0001-6439-2224 Any deviation from the normal concentration of amylase in the blood circulation. 2018-12-04T01:35:56Z Abnormal circulating amylase level human_phenotype HP:0410282 Abnormal circulating amylase concentration HP:0410282 Detection of acetaminophen in the blood. 2018-12-04T01:44:23Z Positive blood Tylenol test Positive blood paracetamol test human_phenotype HP:0410283 Positive blood acetaminophen test HP:0410283 Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. 2018-12-04T02:17:31Z human_phenotype HP:0410284 Positive norpropoxyphene blood test HP:0410284 Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene. PubChem:18804 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium. 2018-12-04T02:02:19Z human_phenotype HP:0410285 Positive meconium methadone test HP:0410285 Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. 2018-12-04T02:07:58Z Positive blood Moban test human_phenotype HP:0410286 Positive blood molindone test HP:0410286 Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia. PubChem:23897 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region. 2019-01-09T20:07:18Z Chest hemangioma human_phenotype HP:0410287 Intrathoracic hemangioma HP:0410287 The concentration of amylase in the blood circulation is above the upper limit of normal. 2019-01-28T20:07:47Z Increased circulating amylase level human_phenotype HP:0410288 Hyperamylasemia HP:0410288 The concentration of amylase in the blood circulation is below the lower limit of normal. 2019-01-28T20:07:56Z Decreased circulating amylase level human_phenotype HP:0410289 Amylase is an enzyme that helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. Hypoamylasemia HP:0410289 Detection of norpropoxyphene in urine. 2019-01-28T20:20:19Z human_phenotype HP:0410290 Positive urine norpropoxyphene test HP:0410290 Opposing or not responding to instructions or external stimuli. 2019-01-28T20:32:25Z human_phenotype HP:0410291 Negativism HP:0410291 An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). 2019-01-28T21:28:37Z Abnormal circulating isohemagglutinin level Abnormal level of natural antibody to blood group agents Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin) human_phenotype HP:0410292 Abnormal circulating isohemagglutinin concentration HP:0410292 Abnormal level of natural antibody to blood group agents Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin) Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). 2019-01-28T21:29:11Z Absent natural antibody to blood group agents Complete or near-complete absence of isohemagglutinins human_phenotype HP:0410293 Absent circulating isohemagglutinin HP:0410293 Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). PMID:25309532 A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. 2019-01-28T22:02:23Z human_phenotype HP:0410294 Decreased specific antibody response to protein vaccine HP:0410294 A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. PMID:26018535 The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:02:31Z human_phenotype HP:0410295 Complete or near-complete absence of specific antibody response to tetanus vaccine HP:0410295 The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:02:42Z human_phenotype HP:0410296 Complete or near-complete absence of specific antibody response to hepatitis B vaccine HP:0410296 A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:02:45Z human_phenotype HP:0410297 Partial absence of specific antibody response to tetanus vaccine HP:0410297 A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:02:55Z human_phenotype HP:0410298 Partial absence of specific antibody response to hepatitis B vaccine HP:0410298 A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. 2019-01-28T22:03:17Z human_phenotype HP:0410299 Decreased specific antibody response to unconjugated polysaccharide vaccine HP:0410299 A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. PMID:26018535 The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:03:29Z human_phenotype HP:0410300 Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharide HP:0410300 A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:03:40Z human_phenotype HP:0410301 Partial absence of specific antibody response to unconjugated pneumococcus polysaccharide HP:0410301 A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. 2019-01-28T22:04:00Z human_phenotype HP:0410302 Decreased specific antibody response to protein-conjugated polysaccharide vaccine HP:0410302 A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. PMID:26018535 The inability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:04:07Z human_phenotype HP:0410303 Complete or near-complete absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine HP:0410303 The inability to synthesize postvaccination antibodies against a protein-conjugated meningococcus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:04:12Z human_phenotype HP:0410304 Complete or near-complete absence of specific antibody response to protein-conjugated meningococcus vaccine HP:0410304 A reduced ability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:04:21Z human_phenotype HP:0410305 Partial absence of specific antibody response to protein-conjugated Haemophilus influenzae type b vaccine HP:0410305 A reduced ability to synthesize postvaccination antibodies against a protein-conjugated meningococcus antigen, as measured by antibody titer determination following vaccination. 2019-01-28T22:04:31Z human_phenotype HP:0410306 Partial absence of specific antibody response to protein-conjugated meningococcus vaccine HP:0410306 Detection of methadone and its metabolites in the stool. 2019-01-28T23:27:34Z human_phenotype HP:0410307 Positive stool methadone test HP:0410307 A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection. 2019-01-30T19:50:11Z human_phenotype HP:0410308 Decreased specific antibody response to infection HP:0410308 The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2019-02-26T15:56:07Z 2-aminoadipic aciduria human_phenotype HP:0410309 Alpha-aminoadipic aciduria HP:0410309 The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:117247 https://orcid.org/0000-0002-8169-9049 An abnormal form or size of neutrophils in the cerebrospinal fluid. 2019-02-26T16:58:40Z Abnormality of neutrophil morphology in cerebrospinal fluid human_phenotype HP:0410310 Abnormality of neutrophil morphology in CSF HP:0410310 An abnormal form or size of neutrophils in the cerebrospinal fluid. https://orcid.org/0000-0002-8169-9049 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. 2019-02-26T16:58:40Z Hyposegmentation of neutrophil nuclei in cerebrospinal fluid human_phenotype HP:0410311 Hyposegmentation of neutrophil nuclei in CSF HP:0410311 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid. https://orcid.org/0000-0002-8169-9049 An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. 2019-02-26T16:58:40Z Hypersegmentation of neutrophil nuclei in cerebrospinal fluid human_phenotype HP:0410312 Hypersegmentation of neutrophil nuclei in CSF HP:0410312 An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid. https://orcid.org/0000-0002-8169-9049 Abnormal concentration of 1-methylhistidine in the urine. 2019-02-26T17:12:02Z human_phenotype HP:0410313 Abnormal urinary 1-methylhistidine concentration HP:0410313 Abnormal concentration of 1-methylhistidine in the urine. https://orcid.org/0000-0002-8169-9049 Decreased concentration of 1-methylhistidine in the urine. 2019-02-26T17:12:02Z human_phenotype HP:0410314 Decreased urinary 1-methylhistidine HP:0410314 Decreased concentration of 1-methylhistidine in the urine. https://orcid.org/0000-0002-8169-9049 Increased concentration of 1-methylhistidine in the urine. 2019-02-26T17:16:41Z 1-Methylhistidinuria human_phenotype HP:0410315 Increased urinary 1-methylhistidine HP:0410315 Increased concentration of 1-methylhistidine in the urine. https://orcid.org/0000-0002-8169-9049 Abnormal amount of 3-methylhistidine in the urine. 2019-02-26T17:23:27Z human_phenotype HP:0410316 3-Methylhistidine is an analog of histidine found mainly in skeletal muscle. The rate of myofibrillar protein breakdown may be estimated from the urinary excretion of 3-methylhistidine. This amino acid is formed by the methylation of peptide-bound histidine in actin and myosin, is excreted in the urine when these proteins are broken down, and is not reused for protein synthesis. Abnormal urinary 3-methylhistidine level HP:0410316 Abnormal amount of 3-methylhistidine in the urine. PMID:6780020 PMID:6790901 https://orcid.org/0000-0002-8169-9049 Increased concentration of 3-methylhistidine in the urine. 2019-02-26T17:23:27Z 3-Methylhistidinuria human_phenotype HP:0410317 Increased urinary 3-methylhistidine HP:0410317 Increased concentration of 3-methylhistidine in the urine. PMID:6780020 PMID:6790901 https://orcid.org/0000-0002-8169-9049 Decreased concentration of 3-methylhistidine in the urine. 2019-02-26T17:39:08Z human_phenotype HP:0410318 Decreased urinary 3-methylhistidine HP:0410318 Decreased concentration of 3-methylhistidine in the urine. PMID:6790901 https://orcid.org/0000-0002-8169-9049 Hypersensitivity in form of an adverse immune reaction against alpha-gal. 2019-03-04T19:02:36Z Allergy to alpha-gal Alpha-gal allergy IgE-mediated alpha-gal allergy Immunoglobulin E-mediated alpha-gal allergy human_phenotype HP:0410319 Alpha-gal allergy HP:0410319 Alpha-gal allergy Hypersensitivity in form of an adverse immune reaction against animal proteins. 2019-03-04T19:02:36Z Allergy to animal proteins Animal protein allergy IgE-mediated animal protein allergy Immunoglobulin E-mediated animal protein allergy human_phenotype HP:0410320 Animal protein allergy HP:0410320 Animal protein allergy Hypersensitivity in form of an adverse immune reaction against animal dander. 2019-03-04T19:02:36Z Allergy to animal dander Animal dander allergy IgE-mediated animal dander allergy Immunoglobulin E-mediated animal dander allergy human_phenotype HP:0410321 Animal dander allergy HP:0410321 Animal dander allergy Hypersensitivity in form of an adverse immune reaction against bacteria. 2019-03-04T19:02:36Z Allergy to bacteria Bacteria allergy IgE-mediated bacteria allergy Immunoglobulin E-mediated bacteria allergy human_phenotype HP:0410322 Bacteria allergy HP:0410322 Bacteria allergy Hypersensitivity in form of an adverse immune reaction against drugs. 2019-03-04T19:02:36Z Allergy to drugs Drug allergy IgE-mediated drug allergy Immunoglobulin E-mediated drug allergy human_phenotype HP:0410323 Drug allergy HP:0410323 Drug allergy Hypersensitivity in form of an adverse immune reaction against dust mites. 2019-03-04T19:02:36Z HP:0410325 Allergy to dust mites Dust mite allergy House dust mite allergy IgE-mediated dust mite allergy Immunoglobulin E-mediated dust mite allergy human_phenotype HP:0410324 Dust mite allergy HP:0410324 Dust mite allergy HP:0410324 2019-03-04T19:02:36Z human_phenotype HP:0410325 obsolete House dust mite allergy true HP:0410325 Hypersensitivity in form of an adverse immune reaction against feathers. 2019-03-04T19:12:59Z Allergy to feathers Feather allergy IgE-mediated feather allergy Immunoglobulin E-mediated feather allergy human_phenotype HP:0410326 Feather allergy HP:0410326 Feather allergy Hypersensitivity in form of an adverse immune reaction against dairy. 2019-03-04T19:12:59Z Allergy to dairy Dairy allergy IgE-mediated dairy allergy Immunoglobulin E-mediated dairy allergy human_phenotype HP:0410327 Dairy allergy HP:0410327 Dairy allergy Hypersensitivity in form of an adverse immune reaction against eggs. 2019-03-04T19:12:59Z Allergy to eggs Egg allergy IgE-mediated egg allergy Immunoglobulin E-mediated egg allergy human_phenotype HP:0410328 Egg allergy HP:0410328 Egg allergy Hypersensitivity in form of an adverse immune reaction against gluten. 2019-03-04T19:12:59Z Allergy to gluten Gluten allergy IgE-mediated gluten allergy Immunoglobulin E-mediated gluten allergy human_phenotype HP:0410329 A gluten allergy is usually distinct from gluten sensitivity or Celiac disease. Gluten allergy HP:0410329 Gluten allergy Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products. 2019-03-04T19:12:59Z Allergy to meat allergens IgE-mediated meat allergen allergy Immunoglobulin E-mediated meat allergen allergy Meat allergen allergy Meat allergy human_phenotype HP:0410330 Meat allergen allergy HP:0410330 Meat allergen allergy Meat allergy Hypersensitivity in form of an adverse immune reaction against nut food products. 2019-03-04T19:12:59Z Allergy to nut food products IgE-mediated nut food product allergy Immunoglobulin E-mediated nut food product allergy Nut allergy Nut food product allergy human_phenotype HP:0410331 Nut food product allergy HP:0410331 Nut allergy Nut food product allergy Hypersensitivity in form of an adverse immune reaction against plant based food allergens. 2019-03-04T19:12:59Z Allergy to plant based food allergens IgE-mediated plant based food allergen allergy Immunoglobulin E-mediated plant based food allergen allergy Plant based food allergy human_phenotype HP:0410332 Plant based food allergy HP:0410332 Plant based food allergy Hypersensitivity in form of an adverse immune reaction against seafood. 2019-03-04T19:12:59Z Allergy to seafood IgE-mediated seafood allergy Immunoglobulin E-mediated seafood allergy Seafood allergy human_phenotype HP:0410333 Seafood allergy HP:0410333 Seafood allergy Hypersensitivity in form of an adverse immune reaction against fungus. 2019-03-04T19:30:47Z Allergy to fungi Fungal allergy Fungi allergy Fungus allergy IgE-mediated fungi allergy Immunoglobulin E-mediated fungi allergy human_phenotype HP:0410334 Fungi allergy HP:0410334 Fungal allergy Fungi allergy Fungus allergy Hypersensitivity in form of an adverse immune reaction against insects. 2019-03-04T19:30:47Z Allergy to insects IgE-mediated insect allergy Immunoglobulin E-mediated insect allergy Insect allergy human_phenotype HP:0410335 Insect allergy HP:0410335 Insect allergy Hypersensitivity in form of an adverse immune reaction against insect venom. 2019-03-04T19:30:47Z Allergy to venom IgE-mediated venom allergy Immunoglobulin E-mediated venom allergy Venom allergy human_phenotype HP:0410336 Venom allergy HP:0410336 Venom allergy Hypersensitivity in form of an adverse immune reaction against parasites. 2019-03-04T19:30:47Z Allergy to parasites IgE-mediated parasite allergy Immunoglobulin E-mediated parasite allergy Parasite allergy human_phenotype HP:0410337 Parasite allergy HP:0410337 Parasite allergy Hypersensitivity in form of an adverse immune reaction against plant products. 2019-03-04T19:30:47Z Allergy to plant products IgE-mediated plant product allergy Immunoglobulin E-mediated plant product allergy Plant product allergy human_phenotype HP:0410338 Plant product allergy HP:0410338 Plant product allergy Hypersensitivity in form of an adverse immune reaction against insect bites. 2019-03-05T11:16:44Z Allergy to insect bites IgE-mediated insect bite allergy Immunoglobulin E-mediated insect bite allergy Insect bite allergy human_phenotype HP:0410339 Insect bite allergy HP:0410339 Insect bite allergy The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. 2019-03-13T17:30:10Z Focal epithelial hyperplasia of the lining of mouth Oral mucosa epithelial hyperplasia human_phenotype HP:0410340 Focal epithelial hyperplasia of oral mucosa HP:0410340 The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate. PMID:23204755 Any deviation from the normal concentration of heparan sulfate in the blood circulation. 2019-03-22T11:57:27Z Abnormal circulating heparan sulfate concentration Abnormal circulating heparan sulphate level Abnormal heparan sulfate level Abnormality of the concentration of heparan sulfate in the blood Abnormality of the concentration of heparan sulphate in the blood human_phenotype HP:0410341 Abnormal circulating heparan sulfate concentration HP:0410341 Abnormal circulating heparan sulphate level Abnormality of the concentration of heparan sulphate in the blood An abnormal increase in the concentration of heparan sulfate in the blood. 2019-03-22T11:57:27Z Increased blood heparan sulfate concentration Increased blood heparan sulphate concentration Increased circulating heparan sulphate level human_phenotype HP:0410342 Increased circulating heparan sulfate level HP:0410342 An abnormal increase in the concentration of heparan sulfate in the blood. PMID:9692391 https://orcid.org/0000-0001-9969-8610 Increased blood heparan sulphate concentration Increased circulating heparan sulphate level The concentration of heparan sulfate in the blood circulation is below the lower limit of normal. 2019-03-22T11:57:27Z Decreased blood heparan sulfate concentration Decreased blood heparan sulphate concentration Decreased circulating heparan sulfate concentration Decreased circulating heparan sulphate level Decreased heparan sulfate concentration Decreased heparan sulfate level Decreased heparan sulfate level in blood Reduced heparan sulfate concentration Reduced heparan sulfate level Reduced heparan sulfate level in blood human_phenotype HP:0410343 Decreased circulating heparan sulfate concentration HP:0410343 Decreased blood heparan sulphate concentration Decreased circulating heparan sulphate level Decreased length of O-fucosylated glycans present on properdin. 2019-03-22T12:00:39Z Presence of terminal O-fucose glycans on properdin human_phenotype HP:0410344 Shortened O-fucosylated glycan on properdin HP:0410344 Decreased length of O-fucosylated glycans present on properdin. PMID:18199743 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of polyhexose in the urine. 2019-03-22T14:28:40Z Increased polyhexose concentration in urine human_phenotype HP:0410345 Increased urinary polyhexose HP:0410345 An abnormal increase in the concentration of polyhexose in the urine. PMID:23676310 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of galactosylated oligosaccharides in urine. 2019-03-22T14:28:40Z Increased concentration of galactosylated oligosaccharides in urine human_phenotype HP:0410346 Increased urinary galactosylated oligosaccharide HP:0410346 An abnormal increase in the concentration of galactosylated oligosaccharides in urine. PMID:23676310 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. 2019-03-22T14:28:40Z Increased concentration of high-mannose-type oligosaccharides in urine human_phenotype HP:0410347 Increased urinary high-mannose-type oligosaccharide HP:0410347 An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. PMID:23676310 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. 2019-03-22T14:28:40Z Increase concentration of multiantennary sialylated oligosaccharides in urine human_phenotype HP:0410348 Increased urinary multiantennary sialylated oligosaccharide HP:0410348 An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. PMID:23676310 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. 2019-03-22T14:36:59Z human_phenotype HP:0410349 Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level HP:0410349 An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. PMID:16385447 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine. 2019-03-22T14:36:59Z Increased concentration of fucosylated oligosaccharides in urine human_phenotype HP:0410350 Increased urinary fucosylated oligosaccharide HP:0410350 An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine. PMID:25251875 https://orcid.org/0000-0001-9969-8610 An abnormal concentration of complex N-glycans on glycoproteins. 2019-03-22T14:36:59Z Abnormal concentration of complex N-glycans on glycoproteins human_phenotype HP:0410351 Abnormal complex N-glycan level HP:0410351 An abnormal concentration of complex N-glycans on glycoproteins. https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of complex N-glycans on glycoproteins. 2019-03-22T14:36:59Z Increased concentration of complex N-glycans on glycoproteins human_phenotype HP:0410352 Increased complex N-glycan level HP:0410352 An abnormal increase in the concentration of complex N-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in the concentration of complex N-glycans on glycoproteins. 2019-03-22T14:36:59Z Increased truncated complex N-glycans on glycoproteins human_phenotype HP:0410353 Decreased complex N-glycan level HP:0410353 An abnormal decrease in the concentration of complex N-glycans on glycoproteins. PMID:21385794 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. 2019-03-22T14:48:42Z Increased concentration of sialylated N-glycans on glycoproteins human_phenotype HP:0410354 Increased sialylated N-glycan level HP:0410354 An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. 2019-03-22T14:48:42Z Decreased concentration of sialylated N-glycans on glycoproteins human_phenotype HP:0410355 Decreased sialylated N-glycan level HP:0410355 An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. PMID:23430903 https://orcid.org/0000-0001-9969-8610 An abnormal concentration of high-mannose N-glycans on glycoproteins. 2019-03-22T15:03:10Z Abnormal high-mannose N-glycans on glycoprotein concentration human_phenotype HP:0410356 Abnormal high-mannose N-glycan level HP:0410356 An abnormal concentration of high-mannose N-glycans on glycoproteins. https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. 2019-03-22T15:03:10Z Increased high-mannose N-glycans on glycoprotein concentration human_phenotype HP:0410357 Increased high-mannose N-glycan level HP:0410357 An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. PMID:23928051 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. 2019-03-22T15:03:10Z Decreased high-mannose N-glycans on glycoprotein concentration human_phenotype HP:0410358 Decreased high-mannose N-glycan level HP:0410358 An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormal in the concentration of core 1 O-glycans on glycoproteins. 2019-03-22T15:03:10Z Abnormal concentration of T-antigen human_phenotype HP:0410359 Abnormal core 1 O-glycan level HP:0410359 An abnormal in the concentration of core 1 O-glycans on glycoproteins. https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. 2019-03-22T15:03:10Z Increased T-antigen concentration human_phenotype HP:0410360 Increased core 1 O-glycan level HP:0410360 An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. PMID:14578315 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. 2019-03-22T15:03:10Z Decreased T-antigen concentration human_phenotype HP:0410361 Decreased core 1 O-glycan level HP:0410361 An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. 2019-07-08T14:05:03Z Reduced O-mannosyl glycans on alpha-dystroglycan human_phenotype HP:0410362 Decreased O-mannosyl glycans on alpha-dystroglycan HP:0410362 Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. PMID:21930648 An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. 2019-03-22T15:14:52Z Increased sialyl T-antigen concentration human_phenotype HP:0410363 Increased monosialylated core 1 O-glycan level HP:0410363 An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. PMID:25142811 https://orcid.org/0000-0001-9969-8610 An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. 2019-03-22T15:14:52Z Decreased sialyl T-antigen concentration human_phenotype HP:0410364 Decreased monosialylated core 1 O-glycan level HP:0410364 An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. 2019-03-22T15:14:52Z Increased disialyl T-antigen concentration human_phenotype HP:0410365 Increased disialylated core 1 O-glycan level HP:0410365 An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormal increase in the concentration of globoside Gb4. 2019-03-22T15:14:52Z Increased globoside Gb4 concentration human_phenotype HP:0410366 Increased globoside Gb4 level HP:0410366 An abnormal increase in the concentration of globoside Gb4. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. 2019-07-08T14:25:03Z human_phenotype HP:0410367 Increased hepatitis A virus antibody level HP:0410367 An abnormal increase in the concentration of glycolipid globoside Gb3. 2019-03-22T15:26:22Z Increased globoside Gb3 concentration human_phenotype HP:0410368 Increased globoside Gb3 level HP:0410368 An abnormal increase in the concentration of glycolipid globoside Gb3. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. 2019-07-08T14:25:03Z human_phenotype HP:0410369 Increased hepatitis B virus antibody level HP:0410369 The absence of ganglioside GM3. 2019-03-22T15:26:22Z human_phenotype HP:0410370 Absence of ganglioside GM3 HP:0410370 The absence of ganglioside GM3. PMID:24026681 https://orcid.org/0000-0001-9969-8610 An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. 2019-07-08T14:25:03Z human_phenotype HP:0410371 Increased hepatitis C virus antibody level HP:0410371 An abnormal increase in the concentration of Tn antigen on glycoproteins. 2019-03-22T15:26:22Z Increased O-GalNac on glycoprotein concentration human_phenotype HP:0410372 Increased Tn-antigen level HP:0410372 An abnormal increase in the concentration of Tn antigen on glycoproteins. PMID:16251947 https://orcid.org/0000-0001-9969-8610 Abnormal increase or decrease of the naive CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2019-04-05T14:40:51Z Abnormal naive CD4-positive T cell proportion Abnormal proportion of CD4+CD45RA+ cells Abnormal proportion of naive CD4 T cells Abnormal proportion of naive CD4+ T cells Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells human_phenotype HP:0410373 Abnormal naive CD4+ T cell proportion HP:0410373 Abnormal increase or decrease of the naive CD4+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. PMID:22474485 Abnormal increase or decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2019-04-05T14:40:51Z Abnormal naive CD8 T cell proportion Abnormal proportion of naive CD8 T cells Abnormal proportion of naive CD8+ T cells human_phenotype HP:0410374 Abnormal naive CD8+ T cell proportion HP:0410374 Abnormal increase or decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. PMID:26700072 2019-04-05T14:40:51Z Elevated proportion of naive CD4 T cells Increased naive CD4-positive T cell proportion Increased proportion of CD4+CD45RA+ cells Increased proportion of naive CD4+ T cells Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells human_phenotype HP:0410375 The proportion of naive CD4 T cells relative to the total number of T cells is above the upper limit of normal. Increased naive CD4+ T cell proportion HP:0410375 The proportion of naive CD4 T cells relative to the total number of T cells is above the upper limit of normal. PMID:22474485 PMID:32569607 Abnormal increase of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2019-04-05T14:40:51Z Elevated proportion of naive CD8 T cells Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells Increased proportion of naive CD8 T cells Increased proportion of naive CD8+ T cells human_phenotype HP:0410376 Increased naive CD8+ T cell proportion HP:0410376 Abnormal increase of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. PMID:26700072 Abnormal decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. 2019-04-05T14:40:51Z Decreased naive CD8 T cell proportion Decreased proportion of naive CD8 T cells Decreased proportion of naive CD8+ T cells Reduced proportion of naive CD8 T cells Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells human_phenotype HP:0410377 Decreased naive CD8+ T cell proportion HP:0410377 Abnormal decrease of the naive CD8+ T cell subpopulation, commonly characterized as CD45RA+, CD45RO-, or CD27+, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. These cells are sometimes also characterized as CD62L+ and CCR7+. PMID:26700072 The proportion of naive CD4 T cells relative to the total number of T cells is below the lower limit of normal. 2019-04-05T14:40:51Z Decreased naive CD4-positive T cell proportion Decreased proportion of CD4+CD45RA+ cells Decreased proportion of naive CD4 T cells Decreased proportion of naive CD4+ T cells Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells Reduced proportion of naive CD4 T cells human_phenotype HP:0410378 Decreased naive CD4+ T cell proportion HP:0410378 The proportion of naive CD4 T cells relative to the total number of T cells is below the lower limit of normal. PMID:22474485 PMID:32569607 Abnormal increase or decrease of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-05T15:04:39Z HP:0025623 HP:0410381 HP:0410382 Abnormal CD4+ memory T cell proportion Abnormal proportion of CD4+ memory T cells Abnormal proportion of CD4-positive memory T cells human_phenotype HP:0410379 Unlike in CD8+ T cells, in CD4+ T cells the populations of central memory, effector memory and TEMRA cells are not easily measurable and or are of limited clinical utility. Therefore, generally, only the distinction between naive and memory CD4 T cells is made. Abnormal memory CD4+ T cell proportion HP:0410379 Abnormal increase or decrease of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. CL:0000897 Abnormal increase or decrease of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-05T15:04:39Z Abnormal CD8+ memory T cell proportion Abnormal proportion of CD8-positive memory T cells human_phenotype HP:0410380 Human CD8+T cells are commonly classified into four subsets based on the surface expression of the leukocyte common antigen isoform CD45RA and the lymph node addressin CCR7. Thereby, naive TN cells (CD45RA+/CCR7+) are separated from central memory TCM (CD45RA-/CCR7+), effector memory TEM (CD45RA-/CCR7-) and TEMRA (CD45RA+/CCR7-) T cells. Abnormal memory CD8+ T cell proportion HP:0410380 Abnormal increase or decrease of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:20146720 PMID:28481945 HP:0410379 2019-04-05T15:04:39Z human_phenotype HP:0410381 obsolete Abnormal proportion of central memory CD4-positive T cells true HP:0410381 HP:0025623 HP:0410379 2019-04-05T15:04:39Z human_phenotype HP:0410382 This term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5696 obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells true HP:0410382 An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T15:04:39Z Abnormal proportion of effector memory CD8-positive T cells human_phenotype HP:0410383 Abnormal effector memory CD8+ T cell proportion HP:0410383 An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 An abnormal proportion of central memory CD8-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T15:04:39Z Abnormal proportion of central memory CD8-positive T cells human_phenotype HP:0410384 Abnormal central memory CD8+ T cell proportion HP:0410384 An abnormal proportion of central memory CD8-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 Decreased proportion of CD8-positive memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. 2019-04-05T15:25:44Z Decreased proportion of CD8-positive memory T cells human_phenotype HP:0410385 Decreased memory CD8+ T cell proportion HP:0410385 Decreased proportion of CD8-positive memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. PMID:20146720 Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. 2019-04-05T15:25:44Z Decreased proportion of CD4-positive memory T cells human_phenotype HP:0410386 Decreased CD4+ memory T cell proportion HP:0410386 Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high. CL:0000897 HP:0025624 2019-04-05T15:28:40Z human_phenotype HP:0410387 This term was a duplicate, hence it was obsoleted. https://github.com/obophenotype/human-phenotype-ontology/issues/5696 obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells true HP:0410387 A reduced proportion of central memory CD4-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T15:28:40Z HP:0025622 Decreased proportion of CD4+ central memory cells Decreased proportion of CD4-positive central memory cells Decreased proportion of central memory CD4+, alpha-beta T cell Reduced proportion of CD4+ central memory cells human_phenotype HP:0410388 An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. Decreased central memory CD4+ T cell proportion HP:0410388 A reduced proportion of central memory CD4-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:22343568 A reduced proportion of CD8-positive central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T18:22:11Z Decreased proportion of central memory CD8-positive T cells human_phenotype HP:0410389 Decreased central memory CD8+ T cell proportion HP:0410389 A reduced proportion of CD8-positive central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 A reduced proportion of CD8-positive effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T18:22:11Z Decreased proportion of effector memory CD8-positive T cells human_phenotype HP:0410390 Decreased effector memory CD8+ T cell proportion HP:0410390 A reduced proportion of CD8-positive effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 Abnormal increase of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-05T18:22:11Z Increased CD4+ memory T cell proportion Increased proportion of CD4+ memory T cells Increased proportion of CD4-positive memory T cells human_phenotype HP:0410391 Increased memory CD4+ T cell proportion HP:0410391 Abnormal increase of the memory CD4+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD4+ T cells in the blood, compared to a reference range for a given sex and age-group. CL:0000897 Abnormal increase of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. 2019-04-05T18:22:11Z Increased proportion of CD8-positive memory T cells human_phenotype HP:0410392 Increased memory CD8+ T cell proportion HP:0410392 Abnormal increase of the memory CD8+ T cell subpopulation, commonly characterized as CD45RA-, CD45RO+, or CD27-, measured as percentage of total CD8+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:20146720 An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T18:22:11Z HP:0025621 Elevated proportion central memory CD4-positive, alpha-beta T cells Elevated proportion of CD4+ central memory cells Increased proportion of CD4+ central memory cells Increased proportion of central memory CD4+, alpha-beta T cell human_phenotype HP:0410393 These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype. Increased central memory CD4+ T cell proportion HP:0410393 An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:22343568 HP:0025625 2019-04-05T18:22:11Z human_phenotype HP:0410394 obsolete Increased effector memory CD4-positive T cell proportion true HP:0410394 An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T18:22:11Z Increased proportion of effector memory CD8-positive T cells human_phenotype HP:0410395 Increased effector memory CD8+ T cell proportion HP:0410395 An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2019-04-05T18:22:11Z Increased proportion of central memory CD8-positive T cells human_phenotype HP:0410396 Increased central memory CD8+ T cell proportion HP:0410396 An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. PMID:20146720 PMID:22343568 Saccular dilatation of the terminal bronchioles. 2019-04-18T15:38:19Z Bronchiolectasia human_phenotype HP:0410397 Bronchiolectasis HP:0410397 Saccular dilatation of the terminal bronchioles. PMID:20037680 https://orcid.org/0000-0002-8169-9049 Detection of lead in the blood. 2019-04-29T16:57:24Z Increased blood lead level human_phenotype HP:0410399 Positive blood lead test HP:0410399 Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. 2019-04-29T17:00:51Z Absence of sebaceous glands human_phenotype HP:0410400 Absent sebaceous glands HP:0410400 Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. MP:0000647 Applies to a sign or symptom that is exacerbated in the evening as compared to the day. 2019-04-29T17:12:16Z human_phenotype HP:0410401 Worse in evening HP:0410401 Applies to a sign or symptom that is exacerbated in the evening as compared to the day. https://orcid.org/0000-0002-0736-9199 An abnormality of the frontal bone. UMLS:C4021873 Abnormality of the bone of the forehead Abnormality of the frontal bone Abnormal morphology of frontal bone Anomaly of the frontal bone Deformity of the frontal bone Malformation of the frontal bone human_phenotype HP:0430000 Abnormal frontal bone morphology HP:0430000 An abnormality of the frontal bone. HPO_CONTRIBUTOR:GOC_MG Abnormality of the bone of the forehead https://orcid.org/0000-0001-5889-4463 Abnormal morphology of frontal bone https://orcid.org/0000-0001-5208-3432 https://orcid.org/0000-0001-5889-4463 Anomaly of the frontal bone https://orcid.org/0000-0001-5889-4463 Deformity of the frontal bone https://orcid.org/0000-0001-5889-4463 Malformation of the frontal bone https://orcid.org/0000-0001-5889-4463 An abnormality of the lacrimal bone. UMLS:C4021872 Anomaly of the lacrimal bone Deformity of the lacrimal bone Malformation of the lacrimal bone human_phenotype HP:0430002 Abnormal lacrimal bone morphology HP:0430002 An abnormality of the lacrimal bone. HPO_CONTRIBUTOR:GOC_MG Anomaly of the lacrimal bone https://orcid.org/0000-0001-5889-4463 Deformity of the lacrimal bone https://orcid.org/0000-0001-5889-4463 Malformation of the lacrimal bone https://orcid.org/0000-0001-5889-4463 An abnormality of the palatine bone. UMLS:C4021871 Abnormality of the palatine bone Anomaly of the palatine bone Deformity of the palatine bone Malformation of the palatine bone human_phenotype HP:0430003 Abnormal palatine bone morphology HP:0430003 An abnormality of the palatine bone. HPO_CONTRIBUTOR:GOC_MG Anomaly of the palatine bone https://orcid.org/0000-0001-5889-4463 Deformity of the palatine bone https://orcid.org/0000-0001-5889-4463 Malformation of the palatine bone https://orcid.org/0000-0001-5889-4463 UMLS:C4021870 human_phenotype HP:0430004 Frontomalar faciosynostosis HP:0430004 An abnormality of the ethmoid bone UMLS:C4021869 Abnormality of ethmoid bone Anomaly of the ethmoid bone Deformity of the ethmoid bone Malformation of the ethmoid bone human_phenotype HP:0430005 Abnormal ethmoid bone morphology HP:0430005 An abnormality of the ethmoid bone HPO_CONTRIBUTOR:GOC_MG Anomaly of the ethmoid bone https://orcid.org/0000-0001-5889-4463 Deformity of the ethmoid bone https://orcid.org/0000-0001-5889-4463 Malformation of the ethmoid bone https://orcid.org/0000-0001-5889-4463 An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. SNOMEDCT_US:95504004 UMLS:C0521574 human_phenotype HP:0430006 Ectopic cilia of eyelid HP:0430006 An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid. HPO_CONTRIBUTOR:GOC_MG http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. SNOMEDCT_US:90216006 UMLS:C0152454 Eyelid adhesion to globe of eye Eyelid stuck to eyeball human_phenotype HP:0430007 Symblepharon HP:0430007 A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. HPO_CONTRIBUTOR:GOC_MG http://en.wikipedia.org/wiki/Symblepharon Eyelid adhesion to globe of eye https://orcid.org/0000-0001-5889-4463 Eyelid stuck to eyeball https://orcid.org/0000-0001-5889-4463 The presence of more than the normal number of eyelids. SNOMEDCT_US:24606006 UMLS:C0266576 UMLS:C4280275 Extra eyelid Double eyelid human_phenotype HP:0430008 Accessory eyelid HP:0430008 The presence of more than the normal number of eyelids. HPO_CONTRIBUTOR:GOC_MG Extra eyelid https://orcid.org/0000-0001-5889-4463 Double eyelid https://orcid.org/0000-0001-5889-4463 Developmental hypoplasia of the eyelid. Small eyelid SNOMEDCT_US:204203001 UMLS:C0344499 UMLS:C4280274 Decreased size of eyelid Hypoplasia of the eyelid Hypoplastic eyelid Underdevelopment of eyelid Short eyelid human_phenotype HP:0430009 Hypoplasia of eyelid HP:0430009 Developmental hypoplasia of the eyelid. HPO_CONTRIBUTOR:GOC_MG Small eyelid https://orcid.org/0000-0001-5889-4463 Decreased size of eyelid https://orcid.org/0000-0001-5889-4463 Underdevelopment of eyelid https://orcid.org/0000-0001-5889-4463 Short eyelid https://orcid.org/0000-0001-5889-4463 Abnormal shortness of the vertical dimensions of the eyelids. SNOMEDCT_US:94684003 UMLS:C0685873 Abnormally small eyelid human_phenotype HP:0430010 Microblepharia HP:0430010 Abnormal shortness of the vertical dimensions of the eyelids. http://medical-dictionary.thefreedictionary.com/microblepharia Abnormally small eyelid https://orcid.org/0000-0001-5889-4463 An abnormality of the palpebral conjunctiva. UMLS:C4021868 human_phenotype HP:0430011 Defect of palpebral conjunctiva HP:0430011 An abnormality of the palpebral conjunctiva. HPO_CONTRIBUTOR:GOC_MG Failure to complete ossification (maturation and calcification) of the palatine bone. SNOMEDCT_US:93595006 UMLS:C0685213 Incomplete calcification of palatine bone Incomplete mineralization of palatine bone human_phenotype Incomplete formation of palatine bone HP:0430012 Incomplete ossification of palatine bone HP:0430012 Failure to complete ossification (maturation and calcification) of the palatine bone. HPO_CONTRIBUTOR:GOC_MG Incomplete calcification of palatine bone https://orcid.org/0000-0001-5889-4463 Incomplete mineralization of palatine bone https://orcid.org/0000-0001-5889-4463 Incomplete formation of palatine bone https://orcid.org/0000-0001-5889-4463 Lack of formation of the palatine bone. UMLS:C4021867 Absence of palatine bone calcification Absence of palatine bone mineralization human_phenotype Absence of palatine bone formation HP:0430013 Absent palatine bone ossification HP:0430013 Lack of formation of the palatine bone. HPO_CONTRIBUTOR:GOC_MG Absence of palatine bone calcification https://orcid.org/0000-0001-5889-4463 Absence of palatine bone mineralization https://orcid.org/0000-0001-5889-4463 Absence of palatine bone formation https://orcid.org/0000-0001-5889-4463 An abnormality of one or more of the five muscles of the soft palate. 2015-09-01T15:12:39Z UMLS:C4073196 Abnormality of soft palate muscles human_phenotype HP:0430014 Abnormality of musculature of soft palate HP:0430014 An abnormality of one or more of the five muscles of the soft palate. https://orcid.org/0000-0001-5889-4463 An abnormality of any of the muscles of the pharynx. 2015-09-01T15:12:39Z UMLS:C4073197 Abnormality of muscles of the pharynx Abnormality of musculature of pharynx Abnormality of pharyngeal musculature Abnormality of pharynx musculature human_phenotype HP:0430015 Abnormal morphology of musculature of pharynx HP:0430015 An abnormality of any of the muscles of the pharynx. https://orcid.org/0000-0001-5889-4463 An abnormality of the tensor veli palatini muscle 2015-09-01T15:12:39Z UMLS:C4073198 human_phenotype HP:0430016 Abnormality of tensor veli palatini muscle HP:0430016 An abnormality of the tensor veli palatini muscle https://orcid.org/0000-0001-5889-4463 An abnormality of the uvular muscle 2015-09-01T15:12:39Z UMLS:C4073199 Abnormality of musculus uvulae human_phenotype HP:0430017 Abnormality of uvular muscle HP:0430017 An abnormality of the uvular muscle https://orcid.org/0000-0001-5889-4463 An abnormality of the muscles of the structure of the nose. 2015-09-01T16:40:50Z UMLS:C4073200 Abnormality of muscle of nose Abnormality of musculature of the nose Abnormality of nasal musculature human_phenotype HP:0430018 Abnormality of nasal musculature HP:0430018 An abnormality of the muscles of the structure of the nose. https://orcid.org/0000-0001-5889-4463 Abnormality of muscle of nose Abnormality of musculature of the nose Abnormality of nasal musculature An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. 2015-09-01T16:40:50Z UMLS:C4073201 Abnormality of muscle of facial expression Abnormality of musculature of facial expression human_phenotype HP:0430019 Abnormality of muscle of facial expression HP:0430019 An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression. https://orcid.org/0000-0001-5889-4463 Abnormality of muscle of facial expression An abnormality of the levator labii superioris alaeque nasi muscle. 2015-09-01T16:40:50Z UMLS:C4073202 human_phenotype HP:0430020 Abnormality of levator labii superioris alaeque nasi muscle HP:0430020 An abnormality of the levator labii superioris alaeque nasi muscle. https://orcid.org/0000-0001-5889-4463 An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. 2015-09-03T11:57:29Z UMLS:C4073203 Abnormality of the common carotid artery human_phenotype HP:0430021 Abnormal common carotid artery morphology HP:0430021 An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. https://orcid.org/0000-0001-5889-4463 Abnormality of the common carotid artery An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. 2015-09-03T13:29:38Z UMLS:C4073204 Abnormality of the sphenoidal sinus human_phenotype HP:0430022 Abnormality of the sphenoid sinus HP:0430022 An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. https://orcid.org/0000-0001-5889-4463 An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. 2015-09-03T13:29:38Z UMLS:C4073205 Abnormality of the antrum of Highmore Abnormality of the maxillary antrum Abnormality of the upper jaw sinus human_phenotype HP:0430023 Abnormality of the maxillary sinus HP:0430023 An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity. https://orcid.org/0000-0001-5889-4463 Abnormality of the upper jaw sinus https://orcid.org/0000-0001-5889-4463 An abnormality of an external jugular vein of the neck. 2015-09-03T13:29:38Z UMLS:C4073206 human_phenotype HP:0430024 Abnormality of external jugular vein HP:0430024 An abnormality of an external jugular vein of the neck. https://orcid.org/0000-0001-5889-4463 Two-sided or bilateral weakness of the muscles of facial expression and eye closure. 2015-09-24T14:25:23Z UMLS:C4073207 Bilateral facial muscle paralysis Bilateral facial muscle weakness Bilateral facial paralysis Paralysis of both sides of the face Weakness of both sides of the face human_phenotype HP:0430025 Bilateral facial palsy HP:0430025 Two-sided or bilateral weakness of the muscles of facial expression and eye closure. https://orcid.org/0000-0001-5889-4463 Bilateral facial muscle paralysis https://orcid.org/0000-0001-5889-4463 Bilateral facial muscle weakness https://orcid.org/0000-0001-5889-4463 Bilateral facial paralysis https://orcid.org/0000-0001-5889-4463 Paralysis of both sides of the face https://orcid.org/0000-0001-5889-4463 Weakness of both sides of the face https://orcid.org/0000-0001-5889-4463 HP:0000309 2015-09-24T18:01:17Z human_phenotype HP:0430026 obsolete Abnormality of the shape of the midface true HP:0430026 Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. 2015-09-25T21:54:53Z SNOMEDCT_US:28070007 UMLS:C0266081 UMLS:C2227090 UMLS:C4073209 UMLS:C4280272 UMLS:C4280273 Big maxilla Big upper jaw Hyperplasia of upper jaw Increased size of maxilla Increased size of upper jaw Large maxilla Large upper jaw Maxillary excess Maxillary hyperplasia Maxillary macrognathia Maxillary prominence Prominent maxilla Prominent upper jaw Upper jaw bone excess Upper jaw excess Increased projection of maxilla Increased projection of upper jaw human_phenotype Hypertrophy of maxilla Hypertrophy of upper jaw Maxillary prognathia Prognathia of the upper jaw HP:0430028 Hyperplasia of the maxilla HP:0430028 Big maxilla https://orcid.org/0000-0001-5889-4463 Big upper jaw https://orcid.org/0000-0001-5889-4463 Hyperplasia of upper jaw https://orcid.org/0000-0001-5889-4463 Increased size of maxilla https://orcid.org/0000-0001-5889-4463 Increased size of upper jaw https://orcid.org/0000-0001-5889-4463 Large maxilla https://orcid.org/0000-0001-5889-4463 Large upper jaw https://orcid.org/0000-0001-5889-4463 Maxillary excess https://orcid.org/0000-0001-5889-4463 Maxillary hyperplasia https://orcid.org/0000-0001-5889-4463 Maxillary macrognathia https://orcid.org/0000-0001-5889-4463 Maxillary prominence https://orcid.org/0000-0001-5889-4463 Prominent maxilla https://orcid.org/0000-0001-5889-4463 Prominent upper jaw https://orcid.org/0000-0001-5889-4463 Upper jaw bone excess https://orcid.org/0000-0001-5889-4463 Upper jaw excess https://orcid.org/0000-0001-5889-4463 Increased projection of maxilla https://orcid.org/0000-0001-5889-4463 Increased projection of upper jaw https://orcid.org/0000-0001-5889-4463 Hypertrophy of maxilla https://orcid.org/0000-0001-5889-4463 Hypertrophy of upper jaw https://orcid.org/0000-0001-5889-4463 Maxillary prognathia https://orcid.org/0000-0001-5889-4463 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. 2015-09-28T10:42:23Z UMLS:C4073210 Hyperplasia of the intermaxillary bone Hyperplasia of the primary palate bone Increased size of premaxilla Increased size of the primary palate bone Large premaxilla Large primary palate bone Premaxillary excess Primary palate bone excess human_phenotype HP:0430029 Hyperplasia of the premaxilla HP:0430029 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures. https://orcid.org/0000-0001-5889-4463 Hyperplasia of the intermaxillary bone https://orcid.org/0000-0001-5889-4463 Hyperplasia of the primary palate bone https://orcid.org/0000-0001-5889-4463 Increased size of premaxilla https://orcid.org/0000-0001-5889-4463 Increased size of the primary palate bone https://orcid.org/0000-0001-5889-4463 Large premaxilla https://orcid.org/0000-0001-5889-4463 Large primary palate bone https://orcid.org/0000-0001-5889-4463 Premaxillary excess https://orcid.org/0000-0001-5889-4463 Primary palate bone excess https://orcid.org/0000-0001-5889-4463 Any kind of test for an infectious agent in a specimen positive. 2023-12-02T09:27:51Z human_phenotype HP:0430030 Positive infectious agent test HP:0430030 The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye. 2023-12-02T09:29:24Z human_phenotype HP:0430031 This finding is generally assessed by polymerase chain reaction (PCR) testing of aqueous humor obtained from the anterior chamber of the eye by an aqueous humor tap. Aqueous humor viral DNA positivity HP:0430031 History of use of electronic cigarettes (vaping). 2023-12-02T09:33:58Z Electronic cigarette or vape use Vaping human_phenotype HP:0430032 Electronic cigarette exposure history HP:0430032 Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles. 2023-12-02T09:52:52Z human_phenotype HP:0430033 Gottron sign HP:0430033 Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles. PMID:23112358 PMID:31279808 PMID:32644343 Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic. 2023-12-02T10:00:05Z Resistant hypertension human_phenotype HP:0430034 Hypertension resistant to conventional therapy HP:0430034 Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic. PMID:30354828 Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg. 2023-12-02T10:03:33Z Calcification of the interosseous membrane of leg Calcification of the middle tibiofibular joint human_phenotype HP:0430035 Tibiofibular interosseous membrane calcification HP:0430035 Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg. PMID:10976985 A type of elbow fracture that involves the distal humerus just above the elbow. 2023-12-11T13:59:39Z human_phenotype HP:0430036 Supracondylar elbow fracture HP:0430036 A type of elbow fracture that involves the distal humerus just above the elbow. PMID:28723005 Alcohol abuse or dependence. 2023-12-14T15:41:54Z human_phenotype HP:0430037 Abnormal alcohol consumption HP:0430037 Alcohol abuse or dependence. PMID:25066321 Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve). 2024-01-06T09:37:42Z human_phenotype HP:0430043 Thoracic lordosis HP:0430043 Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve). PMID:30195269 Refers to pain or discomfort that is perceived to travel from the chest into the left arm. 2024-01-06T09:39:29Z human_phenotype HP:0430044 Radiation into left arm HP:0430044 Refers to pain or discomfort that is perceived to travel from the chest into the right arm. 2024-01-06T09:40:24Z human_phenotype HP:0430045 Radiation into right arm HP:0430045 The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, second to fifth metatarsophalangeal joints, and wrists. 2024-01-07T09:36:17Z human_phenotype HP:0430046 Small joint hypermobility HP:0430046 The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles. 2024-01-07T09:39:20Z human_phenotype HP:0430047 Large joint hypermobility HP:0430047 Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus. 2024-01-25T08:18:11Z Intracranial calcifications Brain calcification human_phenotype HP:0430048 pineal gland, choroid plexus, habenula, falx cerebri and tentorium cerebelli Intracranial calcification HP:0430048 Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus. PMID:31558966 Intracranial calcifications The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid. 2024-01-27T11:12:40Z Antithyroid antibody positivity human_phenotype HP:0430050 Anti-thyroid antibody positivity HP:0430050 Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies). 2024-01-27T11:45:14Z human_phenotype HP:0430051 Bloodstream pathogen-specific antibody positivity HP:0430051 Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies). PMID:35889978 The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2). 2024-01-27T11:47:34Z human_phenotype HP:0430052 Anti-SARS-CoV-2 coronavirus antibody positivity HP:0430052 The presence of antibodies in the blood circulation that react against a component of the West Nile virus. 2024-01-27T11:49:46Z human_phenotype HP:0430053 Anti-West Nile virus antibody positivity HP:0430053 The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite). 2024-01-27T11:51:10Z human_phenotype HP:0430054 Anti-microfilaria antibody positivity HP:0430054 The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite). PMID:7817540 The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi. 2024-01-27T11:53:19Z human_phenotype HP:0430055 Anti-trypanosoma cruzi antibody positivity HP:0430055 The presence of antibodies in the blood circulation that react against a component of chikungunya virus. 2024-01-27T11:54:58Z human_phenotype HP:0430056 Anti-chikungunya virus antibody positivity HP:0430056 The presence of antibodies in the blood circulation that react against a component of chikungunya virus. PMID:35120141 The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci. 2024-01-27T11:56:37Z human_phenotype HP:0430057 Anti-chlamydia psittaci antibody positivity HP:0430057 The presence of antibodies in the blood circulation that react against a component of herpes simplex. 2024-01-27T11:58:24Z HSV antibody titer high in blood human_phenotype HP:0430058 Anti-herpes simplex antibody positivity HP:0430058 The presence of antibodies in the blood circulation that react against a virus. 2024-01-27T11:59:43Z human_phenotype HP:0430059 Bloodstream virus-specific antibody positivity HP:0430059 The presence of antibodies in the blood circulation that react against a parasite. 2024-01-27T12:00:43Z human_phenotype HP:0430060 Bloodstream parasite-specific antibody positivity HP:0430060 The presence of antibodies in the blood circulation that react against a bacterium. 2024-01-27T12:02:26Z human_phenotype HP:0430061 Bloodstream antibacterial antibody positivity HP:0430061 The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus. 2024-01-27T12:03:45Z human_phenotype HP:0430062 Anti-Japanese encephalitis virus-specific antibody positivity HP:0430062 The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis. 2024-01-27T12:06:11Z human_phenotype HP:0430063 Anti-chlamydia trachomatis-specific antibody positivity HP:0430063 The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV). 2024-01-27T12:07:23Z human_phenotype HP:0430064 Anti-Epstein-Barr virus-specific antibody positivity HP:0430064 The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite). 2024-01-27T12:10:01Z human_phenotype HP:0430065 Anti-babesia-specific antibody positivity HP:0430065 The presence of antibodies in the blood circulation that react against a component of the Zika virus. 2024-01-27T12:12:00Z human_phenotype HP:0430066 Anti-Zikavirus-specific antibody positivity HP:0430066 The presence of antibodies in the blood circulation that react against a component of the Zika virus. PMID:24983096 Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. 2024-01-27T12:14:15Z human_phenotype HP:0430067 Positive bloodstream nucleic acid pathogen test HP:0430067 Detection of nucleic acid of a microfilarial parasite in the blood circulation. 2024-01-27T12:15:19Z human_phenotype HP:0430068 Positive microfilaria PCR test in the blood circulation HP:0430068 Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation. 2024-01-27T12:19:57Z JC virus PCR in blood positive human_phenotype HP:0430069 Positive JC-virus PCR test in the blood circulation HP:0430069 Implantation of the placenta over or near the internal os of the cervix. 2024-01-27T12:48:54Z Placenta praevia human_phenotype HP:0430070 Placenta previa is the complete or partial covering of the internal os of the cervix with the placenta. It is a major risk factor for postpartum hemorrhage and can lead to morbidity and mortality of the mother and neonate. Placenta previa HP:0430070 Implantation of the placenta over or near the internal os of the cervix. PMID:30969640 Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom. 2024-01-30T05:58:49Z human_phenotype HP:0430071 Abnormal circulating organic compound concentration HP:0430071 Any deviation of the concentration of beta-carotene in the blood circulation from the normal range. 2024-01-30T06:01:12Z human_phenotype HP:0430072 Abnormal circulating beta-carotene concentration HP:0430072 The concentration of beta-carotene in the blood circulation is below the lower limit of normal. 2024-01-30T06:01:59Z human_phenotype HP:0430073 Decreased circulating beta-carotene concentration HP:0430073 The concentration of beta-carotene in the blood circulation is above the upper limit of normal. 2024-01-30T06:02:06Z human_phenotype HP:0430074 Increased circulating beta-carotene concentration HP:0430074 Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple. 2024-02-04T07:18:17Z Galactocele Lactation duct obstruction human_phenotype HP:0430075 Mammary blocked duct HP:0430075 Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple. PMID:23449233 The presence of antibodies in the blood circulation that react against a fungus. 2024-02-04T07:24:05Z human_phenotype HP:0430076 Bloodstream antifungal antibody positivity HP:0430076 The presence of antibodies in the blood circulation that react against a component of a fungus of the Coccidioides genus. 2024-02-04T07:24:48Z Coccidioidal antibodies present in blood human_phenotype HP:0430077 Anti-coccidioidal antibody positivity HP:0430077 The presence of antibodies in the blood circulation that react against a component of a fungus of the Cryptoccous genus. 2024-02-04T07:27:30Z human_phenotype HP:0430078 Anti-cryptococcal antibody positivity HP:0430078 The presence of antibodies in the blood circulation that react against a mycoplasmal component. 2024-02-04T07:28:52Z human_phenotype HP:0430079 Mycoplasma is a term used to refer to any of the members of the class Mollicutes which include Mycoplasma and Ureaplasma. Anti-mycoplasma antibody positivity HP:0430079 The presence of antibodies in the blood circulation that react against a mycoplasmal component. PMID:30725612 The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors 2024-02-04T07:31:30Z human_phenotype HP:0430080 Anti-rickettsial antibody positivity HP:0430080 The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors PMID:35993770 The presence of antibodies in the blood circulation that react against a component of Bartonella. 2024-02-04T07:36:23Z Bartonella henselae antibody titer high in blood human_phenotype HP:0430081 Anti-Bartonella henselae antibody positivity HP:0430081 The presence of antibodies in the blood circulation that react against a component of Dengue virus. 2024-02-04T08:37:01Z Dengue antibody titer high in blood human_phenotype HP:0430082 Anti-Dengue virus antibody positivity HP:0430082 The presence of antibodies in the blood circulation that react against a component of an Arbovirus. 2024-02-04T08:38:26Z human_phenotype HP:0430083 Anti-arbovirus antibody positivity HP:0430083 The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV). 2024-02-04T08:39:51Z Lymphocytic choriomeningitis virus antibody titer high in blood human_phenotype HP:0430084 Anti-lymphocytic choriomeningitis antibody positivity HP:0430084 The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV). PMID:34070581 The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus. 2024-02-04T08:41:49Z Varicella-zoster antibody titer high in blood human_phenotype HP:0430085 Anti-varicella-zoster antibody positivity HP:0430085 The presence of antibodies in the blood circulation that react against a component of rubella virus. 2024-02-04T08:44:56Z Rubella antibody titer high in blood human_phenotype HP:0430086 Anti-rubella antibody positivity HP:0430086 The presence of antibodies in the blood circulation that react against a component of rubella virus. PMID:35367004 The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV). 2024-02-04T08:48:25Z CMV antibody titer high in blood human_phenotype HP:0430087 Anti-cytomegalovirus antibody positivity HP:0430087 The presence of antibodies in the blood circulation that react against a component of measles virus. 2024-02-04T08:50:09Z Measles antibody titer high in blood human_phenotype HP:0430088 Anti-measles antibody positivity HP:0430088 The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. 2024-02-04T08:51:46Z Schistosoma antibody titer high in blood human_phenotype HP:0430089 Anti-schistosoma antibody positivity HP:0430089 The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America. 2024-02-04T08:54:05Z Anti-Powassan encephalitis virus antibody positivity Powassan encephalitis antibody titer high in blood human_phenotype HP:0430090 Anti-Powassan virus antibody positivity HP:0430090 The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America. PMID:34033361 Detection of a marker such as a protein by immunohistochemistry or related investigation techniques. The presence or absence of such markers can be used to identify cell types on the basis of a profile of expressed markers. These terms do not imply abnormality and can be used for any cell type or organ. 2024-02-06T10:50:35Z human_phenotype HP:0430091 Marker expression HP:0430091 Detection of the presence of BCL2 on the cell(s) of interest with the use of anti-BCL2 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:42:57Z human_phenotype HP:0430092 The BCL2 proteins are central regulators of the mitochondrial apoptotic pathway. Overexpression of the BCL2 is associated with a poor prognosis in diffuse large B-cell lymphoma. BCL2 expression HP:0430092 Detection of the presence of BCL2 on the cell(s) of interest with the use of anti-BCL2 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:28522442 Detection of the presence of BCL6 on the cell(s) of interest with the use of anti-BCL6 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:45:50Z human_phenotype HP:0430093 BCL6 is a transcriptional repressor which has emerged as a critical regulator of germinal centers (GCs) of lymph nodes. BCL6 is also a frequently activated oncogene in the pathogenesis of human B cell lymphomas, most of which derive from the GC B cells. BCL6 expression HP:0430093 Detection of the presence of BCL6 on the cell(s) of interest with the use of anti-BCL6 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:24220798 Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:47:44Z human_phenotype HP:0430094 The CD5 antigen is expressed by most T cells and a subset of B cells. Human CD5 positive B cells are present in fetal lymphoid tissue, their frequency decreasing with fetal age. In adult human tissues, CD5 positive B cells have been reported to be present in the germinal center and mantle zone. Malignancies of CD5 positive B cells include mantle cell lymphoma and chronic lymphocytic leukemia. CD5 expression HP:0430094 Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:10889824 Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:50:08Z human_phenotype HP:0430095 The CD10 antigen is expressed in acute lymphoblastic leukemia and follicle center cell lymphoma. CD10 expression HP:0430095 Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:11532038 Detection of the presence of CD23 on the cell(s) of interest with the use of anti-CD23 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:51:48Z human_phenotype HP:0430096 CD23 is Fc epsilon RII, the low-affinity receptor for IgE. CD23 is found on mature B cells, activated macrophages, eosinophils, follicular dendritic cells, and platelets. CD23 expression HP:0430096 Detection of the presence of CD38 on the cell(s) of interest with the use of anti-CD38 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:54:55Z human_phenotype HP:0430097 CD38 is cyclic ADP ribose hydrolase, a glycoprotein[ found on the surface of many immune cells (white blood cells), including CD4+, CD8+, B lymphocytes and natural killer cells. CD38 expression HP:0430097 Detection of the presence of CD38 on the cell(s) of interest with the use of anti-CD38 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:29059149 Detection of the presence of CD45 on the cell(s) of interest with the use of anti-CD45 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:57:18Z human_phenotype HP:0430098 CD45 is a pan-leukocyte protein with tyrosine phosphatase activity involved in the regulation of signal transduction in hematopoiesis. CD45 expression HP:0430098 Detection of the presence of CD45 on the cell(s) of interest with the use of anti-CD45 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:34909451 Detection of the presence of cyclin D1 on the cell(s) of interest with the use of anti-cyclin D1 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T04:58:36Z human_phenotype HP:0430099 Cyclin D1 is an important regulator of the cell cycle and overexpression of this protein by immunohistochemistry is characteristically seen in mantle cell lymphoma and other B-cell neoplasms. Cyclin D1 expression HP:0430099 Detection of the presence of cyclin D1 on the cell(s) of interest with the use of anti-cyclin D1 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:27469326 Detection of the presence of FMC7 on the cell(s) of interest with the use of anti-FMC7 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T05:01:08Z human_phenotype HP:0430100 FMC7 is a late B cell differentiation marker. FMC7 expression HP:0430100 Detection of the presence of FMC7 on the cell(s) of interest with the use of anti-FMC7 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:11857591 Detection of the presence of CD19 on the cell(s) of interest with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T05:03:31Z human_phenotype HP:0430101 In normal cells, CD19 is the most ubiquitously expressed protein in the B lymphocyte lineage. CD19 expression is induced at the point of B lineage commitment during the differentiation of the hematopoietic stem cell, and its expression continues through preB and mature B cell differentiation until it is finally down-regulated during terminal differentiation into plasma cells. CD19 expression is maintained in B-lineage cells that have undergone neoplastic transformation, and therefore CD19 is useful in diagnosis of leukemias and lymphomas using monoclonal antibodies (mAbs) and flow cytometry. CD19 expression HP:0430101 Detection of the presence of CD19 on the cell(s) of interest with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:8528044 Detection of the presence of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). 2024-02-07T05:04:05Z human_phenotype HP:0430102 CD20 is a 33-37 kDa, non-glycosylated phosphoprotein expressed on the surface of almost all normal and malignant B cells. CD20 expression HP:0430102 Detection of the presence of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry). PMID:15564720 information about the patient's previous surgical treatments that might be relevant to the presenting illness or to provide optimal clinical management. 2024-02-11T07:51:14Z human_phenotype HP:0430103 Past surgical history HP:0430103 Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face. 2024-02-11T08:08:28Z human_phenotype HP:0430104 Abnormal superficial temporal artery morphology HP:0430104 Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis. 2024-02-11T08:13:09Z human_phenotype HP:0430105 This feature may be observed in temporal arteritis. The foci are characterized by mononuclear cell infiltrates or a granulomatous process with multinucleated giant cells. Skip lesions on temporal artery biopsy HP:0430105 Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis. PMID:10767830 PMID:950804 Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. 2024-02-11T17:19:38Z human_phenotype HP:0430106 Abnormal brain-evoked potentials HP:0430106 Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units. PMID:22995526 The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation. 2024-02-11T17:56:17Z human_phenotype HP:0430107 Sputum infectious agent HP:0430107 The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation. PMID:33085342 Growth of mycobacterium avium in a sputum culture. 2024-02-11T17:58:07Z human_phenotype HP:0430108 Mycobacterium avium-intracellulare complex (MAC) is a ubiquitous environmental microorganism whose pathogenicity ranges from innocuous colonization to disease, in immunocompetent as well as immunocompromised individuals. Positive Mycobacterium avium sputum culture HP:0430108 Growth of mycobacterium avium in a sputum culture. PMID:8996008 A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent. 2024-02-20T09:00:56Z human_phenotype HP:0430109 Positive bloodstream infectious agent antigen test HP:0430109 Demonstration of an antigen specific to Cysticercosis in the bloodstream. 2024-02-20T09:04:50Z human_phenotype HP:0430110 Cysticercosis, the infection with the larval stage of Taenia solium, is a cause of neurological symptoms including seizures. Positive bloodstream Cysticercosis antigen test HP:0430110 Demonstration of an antigen specific to Cysticercosis in the bloodstream. PMID:23265553 Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours. 2024-02-22T06:16:38Z human_phenotype HP:0430111 Klazomania HP:0430111 Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours. PMID:31651053 Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing. 2024-02-22T06:21:04Z human_phenotype HP:0430112 In Tourette syndrome (TS), the unintended expression of coprolalic behaviors is encountered in about one-fifth of patients. Typical coprolalic behaviors in TS are characterized by the utterance of single short obscenities (e.g., in English, so-called four-letter words) with a different pitch or tone from ongoing speech. There have been only a few reports of patients exhibiting coprolalia in other neurological conditions, such as neurodevelopmental disorders (e.g., Kleine-Levin and fragile X syndrome), neurodegenerative syndromes (e.g., FTD, Alzheimer's disease, and chorea-acanthocytosis), after focal brain lesions, in encephalitis lethargica, or as ictal phenomenon. Coprolalia HP:0430112 Continuous groaning, moaning, grunting, and shrieking. 2024-02-22T06:24:32Z human_phenotype HP:0430113 Continuous involuntary vocalizations are most frequently associated with neurodegenerative diseases. in dementias, such as Alzheimer's disease and Huntington disease, continuous involuntary vocalizations, often labeled as vocally disruptive behavior, are part of a spectrum of behavioral symptoms that correlate with the severity of cognitive impairment and may be exacerbated with emotional arousal. Purposeless noisemaking, for example, groaning or howling in parkinsonism may also be encountered. Continuous involuntary vocalizations HP:0430113 Continuous groaning, moaning, grunting, and shrieking. PMID:31651053 Congenital absence or underdevelopment of the uterine cervix. 2024-02-22T07:00:04Z human_phenotype HP:0430114 Aplasia/hypoplasia of the uterine cervix HP:0430114 Underdevelopment of the uterine cervix. 2024-02-22T07:00:44Z human_phenotype HP:0430115 Cervical hypoplasia HP:0430115 A serous papillary adenocarcinoma that arises from the lining of the peritoneum 2024-02-22T08:21:15Z human_phenotype HP:0430116 Primary peritoneal serous papillary adenocarcinoma HP:0430116 Any kind of test for an infectious agent in skin positive. 2024-02-24T10:51:05Z human_phenotype HP:0430117 Positive skin infectious agent test HP:0430117 A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast. 2024-02-24T10:52:21Z Positive KOH test for fungi human_phenotype HP:0430118 Positive skin fungus test HP:0430118 A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast. PMID:24452564 Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal. 2024-02-24T11:08:53Z Eosinophils predominate in nasal discharge human_phenotype HP:0430119 Nasal eosinophil examinations are routine for patients with continuous nasal discharge symptoms (more than one week), for diagnosing nasal eosinophil-positive rhinitis. Nasal secretion eosinophilia HP:0430119 Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal. PMID:30662366 Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal. 2024-02-24T11:11:37Z human_phenotype HP:0430120 Nasal secretion neutrophilia HP:0430120 A developmental defect characterized by congenital absence of the seminal vesicle. 2024-02-25T07:21:07Z Absent seminal vesicles human_phenotype HP:0430121 Seminal vesicle agenesis HP:0430121 A developmental defect characterized by congenital absence of the seminal vesicle. PMID:24839497 PMID:30136289 In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position. 2024-02-25T14:04:38Z human_phenotype HP:0430122 Head impulse test has corrective saccade HP:0430122 Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive. 2024-02-25T14:06:05Z human_phenotype HP:0430123 Positive CSF infectious agent test HP:0430123 Detection of Toxoplasma gondii nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. 2024-02-25T14:07:12Z Positive CSF toxoplasma gondii PCR human_phenotype HP:0430124 Positive CSF toxoplasma gondii nucleic acid test HP:0430124 The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal. 2024-02-25T14:09:17Z human_phenotype HP:0430125 Elevated circulating plasminogen activator inhibitor 1 activity HP:0430125 The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range. 2024-02-25T14:10:33Z human_phenotype HP:0430126 Abnormal circulating plasminogen activator inhibitor 1 activity HP:0430126 The pattern by which a phenotype is localized to or predominant in a part of the brain. 2024-02-25T14:13:57Z human_phenotype HP:0430127 Brain localization HP:0430127 Localization to or predominance in the frontal cortex of the brain. 2024-02-25T14:14:54Z human_phenotype HP:0430128 Frontal cortical localization HP:0430128 Localization to or predominance in the parts of the brain within the posterior fossa. 2024-02-25T14:17:24Z human_phenotype HP:0430129 Posterior fossa localization HP:0430129 Localization to or predominance in the subcortical region of the brain. 2024-02-25T14:19:00Z human_phenotype HP:0430130 Subcortical localization HP:0430130 Localization to or predominance in the parietal cortex of the brain. 2024-02-25T14:20:33Z human_phenotype HP:0430131 Parietal cortex localization HP:0430131 Localization to or predominance in the occipital cortex of the brain. 2024-02-25T14:22:14Z human_phenotype HP:0430132 Occipital cortex localization HP:0430132 History of use of tobacco products such as cigarettes. 2024-02-25T14:24:07Z human_phenotype HP:0430133 Tobacco use history HP:0430133 A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling. 2024-02-26T07:51:18Z Bartholin duct cyst Vulvar cyst human_phenotype HP:0430134 Bartholin cyst HP:0430134 A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling. PMID:36760371 Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase. 2024-03-02T08:04:11Z Abnormal circulating hepatic transaminase activity human_phenotype HP:0430135 Abnormal circulating hepatic transaminase concentration HP:0430135 The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal. 2024-03-02T08:06:50Z human_phenotype HP:0430136 Reduced circulating aspartate aminotransferase concentration HP:0430136 The concentration of succinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-02T08:10:37Z Succinic acid high in urine human_phenotype HP:0430137 Elevated urine succinic acid level HP:0430137 Detection of Varicella zoster virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. 2024-03-02T08:13:52Z Positive CSF varicella zoster virus PCR Varicella zoster virus PCR in CSF positive human_phenotype HP:0430138 Positive CSF varicella zoster virus nucleic acid test HP:0430138 Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies). 2024-03-02T08:15:56Z human_phenotype HP:0430139 CSF pathogen-specific antibody positivity HP:0430139 Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. 2024-03-02T08:16:58Z human_phenotype HP:0430140 Positive CSF nucleic acid pathogen test HP:0430140 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus. 2024-03-02T08:18:25Z Anti-VZV IgG antibodies in CSF human_phenotype HP:0430141 CSF varicella zoster antibody positivity HP:0430141 The concentration of interleukin-6 in the blood circulation is below the lower limit of normal. 2024-03-02T09:10:08Z IL-6 low in blood human_phenotype HP:0430142 Reduced circulating interleukin 6 concentration HP:0430142 Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain. 2024-03-07T11:19:00Z human_phenotype HP:0430143 Elevated circulating C12 acylcarnitine concentration HP:0430143 Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression. 2024-03-07T11:28:49Z human_phenotype HP:0430144 Frontalis muscle overactivity HP:0430144 Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression. PMID:16353177 An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands. 2024-03-07T11:33:41Z human_phenotype HP:0430145 Nasal dermoid cyst HP:0430145 An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands. PMID:27895540 Concentration of the complement component C3 in the blood circulation above the upper limit of normal. 2024-03-08T09:59:21Z human_phenotype HP:0430146 Elevated circulating complement C3 concentration HP:0430146 The concentration of inhibin B in the blood circulation is outside the limits of normal. 2024-03-09T15:44:41Z human_phenotype HP:0430147 Abnormal circulating inhibin B concentration HP:0430147 The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal. 2024-03-09T15:46:36Z human_phenotype HP:0430148 Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). Abnormal circulating lipoprotein(a) concentration HP:0430148 Any kind of test for an infectious agent in the blood circulation positive. 2024-03-18T13:21:31Z human_phenotype HP:0430150 Positive blood infectious agent test HP:0430150 Any kind of test for an infectious agent in the respiratory tract positive. 2024-03-18T13:22:49Z human_phenotype HP:0430151 Positive respiratory tract infectious agent test HP:0430151 A perceived unpleasant smell given off by the body. 2017-04-17T15:32:05Z BO Body odor Bromhidrosis Bromidrosis Osmidrosis human_phenotype HP:0500001 Body odor HP:0500001 A perceived unpleasant smell given off by the body. https://orcid.org/0000-0002-0736-9199 BO Body odor Bromhidrosis http://emedicine.medscape.com/article/1072342-overview Bromidrosis http://emedicine.medscape.com/article/1072342-overview Osmidrosis http://emedicine.medscape.com/article/1072342-overview Pain in and around the anus or rectum (perianal region). 2017-04-24T15:21:35Z Anal pain Anorectal pain Proctalgia Rectal pain human_phenotype HP:0500005 Anal pain HP:0500005 Pain in and around the anus or rectum (perianal region). http://www.mayoclinic.org/symptoms/anal-pain/basics/definition/sym-20050918 Anal pain Rectal pain Inflammation of the urethra. 2017-04-24T15:34:43Z human_phenotype HP:0500006 Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus. Urethritis HP:0500006 Inflammation of the urethra. PMID:26220178 Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. 2017-04-24T15:46:20Z human_phenotype HP:0500007 Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. Iris flocculi HP:0500007 Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. PMID:27843899 PMID:7575269 Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. PMID:27843899 Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. 2017-04-24T15:54:59Z Vortex keratopathy human_phenotype HP:0500008 Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. Cornea verticillata HP:0500008 Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. https://orcid.org/0000-0002-0736-9199 Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone. https://orcid.org/0000-0002-0736-9199 It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. 2017-04-24T16:14:56Z human_phenotype LDD Lhermitte-Duclos disease HP:0500009 Often associated with Cowden syndrome. Dysplastic gangliocytoma of the cerebellum HP:0500009 It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. PMID:11073535 LDD Often associated with Cowden syndrome. PMID:11073535 HP:0031211 2017-04-27T15:51:57Z human_phenotype HP:0500010 obsolete Increased cholesterol esters true HP:0500010 A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. 2017-04-27T16:05:45Z Moon face Puffy face Puffy facies human_phenotype HP:0500011 Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease. Moon facies HP:0500011 A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. https://orcid.org/0000-0002-0736-9199 Moon face Puffy face A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH). 2017-05-04T15:11:57Z Abnormality of GnRH level Abnormality of gonadotropin-releasing hormone level human_phenotype HP:0500012 Abnormal gonadotropin-releasing hormone concentration HP:0500012 A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH). https://orcid.org/0000-0002-0736-9199 Abnormality of GnRH level Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. 2017-05-04T15:11:57Z Absence of GnRH pulsatility human_phenotype HP:0500013 The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function. Lack of gonadotropin-releasing hormone pulsatility HP:0500013 Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion. https://orcid.org/0000-0002-0736-9199 2017-05-12T12:28:23Z HP:0000118 human_phenotype HP:0500014 obsolete Abnormal test result true HP:0500014 Abnormal test result of cardiovascular physiology. 2017-05-12T16:23:33Z human_phenotype HP:0500015 Abnormal cardiac test HP:0500015 Abnormal results of a MRI for the heart. 2017-05-12T16:33:16Z Abnormal cardiac magnetic resonance imaging Abnormal heart MRI human_phenotype HP:0500016 Abnormal cardiac MRI HP:0500016 Abnormal results from the diagnostic tests resulting from cardiac catheterization. 2017-05-12T16:36:51Z Abnormal cardiac cath human_phenotype HP:0500017 Abnormal cardiac catheterization HP:0500017 Abnormal cardiac cath Abnormal results of exercise on heart function. 2017-05-12T16:41:01Z Abnormal exercise test Abnormal cardiac exercise test Abnormal treadmill test human_phenotype HP:0500018 Abnormal cardiac exercise stress test HP:0500018 Abnormal exercise test Abnormal treadmill test Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). 2017-05-12T16:49:32Z Abnormal metabolic cart test human_phenotype HP:0500019 Abnormal resting energy expenditure from metabolic cart test HP:0500019 Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2). http://emedicine.medscape.com/article/2009552-overview Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. 2017-05-12T16:54:55Z human_phenotype HP:0500020 Abnormal cardiac biomarker test HP:0500020 Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes. https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=cardiac_biomarkers An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). 2017-05-18T19:29:53Z human_phenotype HP:0500021 Reduced brain gamma-aminobutyric acid level by MRS HP:0500021 An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS). PMID:27388694 https://orcid.org/0000-0003-0169-8159 A deviation from the normal concentration of dehydroepiandrosterone in the circulation. 2017-05-18T19:38:52Z Abnormal serum DHEA Abnormal serum androstenolone level Abnormal serum dehydroepiandrosterone level human_phenotype HP:0500022 Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids. Abnormal circulating dehydroepiandrosterone concentration HP:0500022 A deviation from the normal concentration of dehydroepiandrosterone in the circulation. PMID:27979632 Abnormal serum DHEA Absence of shoulder muscles. 2017-05-25T16:40:00Z Absent shoulder muscle human_phenotype HP:0500023 Shoulder muscle aplasia HP:0500023 Absence of the musculature of the pelvis. 2017-05-25T16:51:46Z human_phenotype HP:0500024 Aplasia of the musculature of the pelvis HP:0500024 Underdevelopment of the musculature of the pelvis. 2017-05-25T16:53:10Z human_phenotype HP:0500026 Hypoplasia of the musculature of the pelvis HP:0500026 Congenital absence of the colon 2017-05-29T17:10:13Z Absence of the colon Aplasia of the colon human_phenotype HP:0500027 Aplastic colon HP:0500027 Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. 2017-05-30T18:52:34Z CWPs human_phenotype HP:0500028 Cotton wool plaques HP:0500028 Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes. PMID:20460383 CWPs Change in normal glycogen storage content. 2017-06-01T16:35:52Z human_phenotype HP:0500030 Abnormal hepatic glycogen storage HP:0500030 Change in normal glycogen storage content. PMID:26835382 An elevation in bone density in one or more carpal bones of the hand. 2017-06-01T16:54:00Z human_phenotype HP:0500031 Sclerosis of the carpal bones HP:0500031 An elevation in bone density in one or more carpal bones of the hand. PMID:21120491 Abnormality of the structure and branching of the dendrites of a neuron. 2017-06-07T17:35:08Z Aberrant neuronal branching Abnormal neuronal branching human_phenotype HP:0500032 Abnormal neuron branching HP:0500032 Abnormality of the structure and branching of the dendrites of a neuron. PMID:20404840 Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells. 2018-01-08T19:18:59Z human_phenotype HP:0500033 Abnormal natural killer subset distribution HP:0500033 Blockage of the nasolacrimal sac. 2018-01-31T16:35:58Z human_phenotype HP:0500034 Nasolacrimal sac obstruction HP:0500034 Blockage of the nasolacrimal sac. PMID:17203310 A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. 2018-01-31T16:48:25Z human_phenotype HP:0500035 Nasolacrimal sac granuloma HP:0500035 A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac. PMID:13434546 Benign tumor of the nasolacrimal sac. 2018-01-31T16:58:13Z human_phenotype HP:0500036 Nasolacrimal sac papilloma HP:0500036 Benign tumor of the nasolacrimal sac. PMID:4352147 The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. 2018-01-31T17:14:14Z human_phenotype HP:0500037 Nasolacrimal sac epithelial papillary carcinoma HP:0500037 The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac. PMID:16253035 An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. 2018-02-02T14:47:58Z Cicatricial conjunctivitis Cicatrizating conjunctivitis Conjunctival cicatricial conjunctivitis human_phenotype HP:0500039 Conjunctival cicatrization HP:0500039 An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring. https://orcid.org/0000-0003-0986-4123 A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. 2018-02-02T15:28:59Z Conjunctival lipodermoid human_phenotype HP:0500040 Dermolipoma of the conjunctiva HP:0500040 A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix. PMID:25586714 A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. 2018-02-02T15:53:24Z human_phenotype HP:0500041 Myopic astigmatism HP:0500041 A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. https://www.aoa.org/ A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye. 2018-02-02T18:41:23Z Latent hyperopia human_phenotype HP:0500042 Latent hypermetropia HP:0500042 With the eyes in primary position, the sclera is visible above the superior corneal limbus. 2018-02-05T16:22:49Z human_phenotype HP:0500043 Eyelid retraction HP:0500043 With the eyes in primary position, the sclera is visible above the superior corneal limbus. PMID:8719687 https://www.aao.org/bcscsnippetdetail.aspx?id=03ad3eb3-3445-4be2-9470-2c4845169b75 An elevation of the eyelid above the normal level in the primary position. 2018-02-05T16:39:46Z human_phenotype HP:0500044 Upper eyelid retraction HP:0500044 An elevation of the eyelid above the normal level in the primary position. PMID:7735674 A unilateral or bilateral eyelid retraction due to midbrain lesions. 2018-02-05T16:48:13Z human_phenotype HP:0500045 Collier's sign HP:0500045 A unilateral or bilateral eyelid retraction due to midbrain lesions. PMID:17323781 Inflammation of the eyelid due to overactivity of the sebaceous gland. 2018-02-05T17:03:04Z human_phenotype HP:0500046 There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. Seborrhoeic blepharitis HP:0500046 Inflammation of the eyelid due to overactivity of the sebaceous gland. PMID:10777824 There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults. PMID:10777824 A type of lymphoma that involves the nasolacrimal sac. 2018-02-12T18:31:38Z human_phenotype HP:0500047 Nasolacrimal sac lymphoma HP:0500047 A type of lymphoma that involves the nasolacrimal sac. PMID:9392338 https://orcid.org/0000-0003-0986-4123 A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. 2018-02-19T15:38:47Z human_phenotype HP:0500048 Delayed canalization of nasolacrimal duct HP:0500048 A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period. PMID:11222337 An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. 2018-02-19T18:14:43Z human_phenotype HP:0500049 Retinopathy of prematurity HP:0500049 An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness. ISBN:978-3-319-52190-9 PMID:16009843 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. 2018-02-19T18:27:23Z ROP stage 1 human_phenotype HP:0500050 Retinopathy of prematurity stage 1 HP:0500050 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina. ISBN:978-3-319-52190-9 PMID:16009843 ROP stage 1 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. 2018-02-19T18:30:02Z ROP stage 2 human_phenotype HP:0500051 Retinopathy of prematurity stage 2 HP:0500051 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous. ISBN:978-3-319-52190-9 ROP stage 2 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. 2018-02-19T18:43:45Z ROP stage 3 human_phenotype HP:0500052 Retinopathy of prematurity stage 3 HP:0500052 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina. ISBN:978-3-319-52190-9 ROP stage 3 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. 2018-02-19T18:51:13Z ROP stage 4 human_phenotype HP:0500053 Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase. Retinopathy of prematurity stage 4 HP:0500053 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment. ISBN:978-3-319-52190-9 ROP stage 4 A detachment that involves the peripheral retina that does not extend into the macula. 2018-02-19T18:56:37Z ROP stage 4a human_phenotype HP:0500054 Retinopathy of prematurity stage 4a HP:0500054 A detachment that involves the peripheral retina that does not extend into the macula. ISBN:978-3-319-52190-9 ROP stage 4a A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. 2018-02-19T18:56:48Z ROP 4b human_phenotype HP:0500055 Retinopathy of prematurity stage 4b HP:0500055 A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well. ISBN:978-3-319-52190-9 ROP 4b Funnel detachment from the retina with generally traction in all four quadrants. 2018-02-19T19:11:28Z ROP stage 5 human_phenotype HP:0500056 Retinopathy of prematurity stage 5 HP:0500056 Funnel detachment from the retina with generally traction in all four quadrants. ISBN:978-3-319-52190-9 ROP stage 5 An open funnel detachment of the retina with generally traction in all four quadrants. 2018-02-19T19:16:16Z ROP stage 5a human_phenotype HP:0500057 Retinopathy of prematurity stage 5a HP:0500057 An open funnel detachment of the retina with generally traction in all four quadrants. ISBN:978-3-319-52190-9 ROP stage 5a A closed funnel detachment of the retina with generally traction in all four quadrants. 2018-02-19T19:16:26Z ROP stage 5b human_phenotype HP:0500058 Retinopathy of prematurity stage 5b HP:0500058 A closed funnel detachment of the retina with generally traction in all four quadrants. ISBN:978-3-319-52190-9 ROP stage 5b Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. 2018-02-19T19:24:42Z ROP zone 1 human_phenotype HP:0500059 Retinopathy of prematurity zone I HP:0500059 Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula. ISBN:978-3-319-52190-9 PMID:16009843 ROP zone 1 Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. 2018-02-19T19:52:54Z ROP zone II human_phenotype HP:0500060 Retinopathy of prematurity zone II HP:0500060 Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata. ISBN:978-3-319-52190-9 PMID:16009843 ROP zone II Retinopathy which is a residual crescent of retina anterior to zone II. 2018-02-19T19:53:11Z ROP zone III human_phenotype HP:0500061 Retinopathy of prematurity zone III HP:0500061 Retinopathy which is a residual crescent of retina anterior to zone II. ISBN:978-3-319-52190-9 PMID:16009843 ROP zone III Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. 2018-02-19T20:17:35Z ROP plus human_phenotype HP:0500062 Retinopathy of prematurity plus HP:0500062 Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye. PMID:16009843 ROP plus As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. 2018-02-19T20:18:12Z ROP pre-plus human_phenotype HP:0500063 Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. Retinopathy of prematurity pre-plus HP:0500063 As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal. PMID:16009843 ROP pre-plus Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous. PMID:16009843 A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. 2018-02-19T20:26:45Z ROP threshold human_phenotype HP:0500064 Retinopathy of prematurity threshold HP:0500064 A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease. ISBN:978-3-319-52190-9 ROP threshold High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. 2018-02-19T20:26:57Z ROP prethreshold human_phenotype HP:0500065 Retinopathy of prematurity prethreshold HP:0500065 High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both. ISBN:978-3-319-52190-9 ROP prethreshold The difference between total and manifest myopia. 2018-02-26T17:14:19Z human_phenotype HP:0500066 Latent myopia HP:0500066 The difference between total and manifest myopia. https://orcid.org/0000-0003-0986-4123 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. 2018-02-26T17:37:32Z human_phenotype HP:0500069 Paralytic ectropion HP:0500069 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy. ISBN-13:9781416029076 https://orcid.org/0000-0003-0986-4123 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. 2018-02-26T17:48:12Z human_phenotype HP:0500070 Conjunctival dermolipoma HP:0500070 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus. https://orcid.org/0000-0003-0986-4123 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. 2018-02-26T18:22:07Z human_phenotype HP:0500072 Absolute eccentric fixation HP:0500072 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation. https://orcid.org/0000-0003-0986-4123 Any deviation from the normal ocular alignment. 2018-02-26T18:50:33Z human_phenotype HP:0500073 Abnormal ocular alignment HP:0500073 Any deviation from the normal ocular alignment. https://orcid.org/0000-0001-7941-2961 An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. 2018-02-26T18:53:08Z human_phenotype HP:0500074 Dissociated vertical deviation (DVD) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. Dissociated vertical deviation HP:0500074 An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering. ISBN-13:978-0199679980 Dissociated vertical deviation (DVD) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset. ISBN-13:978-0199679980 https://orcid.org/0000-0003-0986-4123 A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. 2018-02-26T18:53:28Z human_phenotype HP:0500075 Dissociated horizontal deviation HP:0500075 A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes. PMID:18427617 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. 2018-02-26T19:13:10Z human_phenotype HP:0500076 Alternating hypertropia HP:0500076 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards. https://orcid.org/0000-0003-0986-4123 A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. 2018-02-26T19:15:24Z human_phenotype HP:0500077 Alternating hyperphoria HP:0500077 A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards. https://orcid.org/0000-0003-0986-4123 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. 2018-02-26T19:22:54Z human_phenotype HP:0500078 Alternating hypotropia HP:0500078 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards. https://orcid.org/0000-0003-0986-4123 A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. 2018-02-26T19:24:11Z human_phenotype HP:0500079 Alternating hypophoria HP:0500079 A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards. https://orcid.org/0000-0003-0986-4123 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). 2018-02-26T20:00:29Z human_phenotype HP:0500081 Pseudophakia HP:0500081 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL). PMID:28358301 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. 2018-03-20T19:55:34Z Optic nerve grey crescent Temporal gray pigmentary crescent Temporal grey pigmentary crescent human_phenotype HP:0500086 This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. Optic nerve gray crescent HP:0500086 Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas. PMID:24862768 Optic nerve grey crescent Temporal grey pigmentary crescent This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients. PMID:24862768 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. 2018-03-20T20:01:02Z human_phenotype HP:0500087 Peripapillary atrophy HP:0500087 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. PMID:20920826 HP:0012643 2018-03-20T20:30:24Z human_phenotype HP:0500088 obsolete Foveal depigmentation true HP:0500088 A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. 2018-03-20T20:36:12Z human_phenotype HP:0500089 Optic nerve sheath meningioma HP:0500089 A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. ISBN-13:978-0199552641 A capillary hemangioma surrounding the eyeball but within the orbit. 2018-03-27T14:45:09Z Peri-ocular capillary hemangioma human_phenotype HP:0500090 Periocular capillary hemangioma HP:0500090 A capillary hemangioma surrounding the eyeball but within the orbit. PMID:20616917 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. 2018-03-27T14:55:41Z human_phenotype HP:0500091 Lymphangioma of the orbit HP:0500091 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage. ISBN-13:978-0199679980 A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit. 2018-03-27T15:11:41Z human_phenotype HP:0500092 Orbital rhabdomyosarcoma HP:0500092 Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. 2018-04-27T19:35:00Z Allergic reaction to foods Food allergy IgE-mediated food allergy Immunoglobulin E-mediated food allergy Reaction to food allergens human_phenotype HP:0500093 Food allergy HP:0500093 Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. PMID:27069254 PMID:27069841 Food allergy Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. 2018-04-27T19:47:57Z human_phenotype HP:0500094 Latex allergy HP:0500094 Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis. PMID:15327474 Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. 2018-04-27T19:55:30Z human_phenotype HP:0500095 Food-induced anaphylaxis HP:0500095 Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food. PMID:16461139 A form of anaphylaxis that is triggered by exposure to venom. 2018-04-27T20:09:07Z human_phenotype HP:0500096 Venom-induced anaphylaxis HP:0500096 A form of anaphylaxis that is triggered by exposure to venom. PMID:21458655 Presence of xenobiotic in stool. 2018-05-21T13:42:31Z human_phenotype HP:0500097 Stool xenobiotic HP:0500097 Presence of a xenobiotic in meconium. 2018-05-21T13:43:07Z human_phenotype HP:0500098 Meconium xenobiotic HP:0500098 Presence of xenobiotic in hair. 2018-05-21T13:44:10Z human_phenotype HP:0500099 Hair xenobiotic HP:0500099 Presence of a xenobiotic in plasma and/or serum. 2018-05-21T13:45:51Z human_phenotype HP:0500100 Plasma/serum xenobiotic HP:0500100 Presence of a xenobiotic in gastric fluid. 2018-05-21T13:46:36Z human_phenotype HP:0500101 Gastric fluid xenobiotic HP:0500101 Abnormal decrease in diastolic blood pressure. 2018-06-22T13:58:31Z Decreased diastolic BP Reduced diastolic blood pressure human_phenotype HP:0500104 Decreased diastolic blood pressure HP:0500104 Abnormal decrease in diastolic blood pressure. PMID:21947466 Decreased diastolic BP Abnormal decrease in systolic blood pressure. 2018-06-22T14:02:09Z Decreased systolic BP Reduced systolic blood pressure human_phenotype HP:0500105 Decreased systolic blood pressure HP:0500105 Abnormal decrease in systolic blood pressure. PMID:21947466 Decreased systolic BP Elevated systolic blood pressure without an elevated blood pressure. 2018-06-22T14:04:14Z human_phenotype HP:0500106 Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. Isolated systolic hypertension HP:0500106 Elevated systolic blood pressure without an elevated blood pressure. PMID:21947466 Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults. PMID:21947466 A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). 2018-06-22T14:06:56Z human_phenotype HP:0500107 Isolated diastolic hypotension is a risk factor for incident heart failure. Isolated diastolic hypotension HP:0500107 A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg). PMID:21947466 Isolated diastolic hypotension is a risk factor for incident heart failure. PMID:21947466 Detection of cocaine or its major metabolite, benzoylecgonine, in urine. 2018-06-25T15:07:40Z human_phenotype HP:0500108 Cocaine is an illicit stimulant that has a high potential for abuse and addiction. Positive urine cocaine test HP:0500108 Detection of barbiturate metabolites such as Phenobarbital in urine. 2018-06-25T15:19:29Z human_phenotype HP:0500109 Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. Positive urine barbiturate test HP:0500109 Detection of barbiturate metabolites such as Phenobarbital in urine. https://orcid.org/0000-0001-7941-2961 Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure. PMID:26339207 Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine. 2018-06-25T15:40:37Z Positive urine marijuana test Positive urine pot test human_phenotype HP:0500110 Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). Positive urine cannabinoid test HP:0500110 Positive urine marijuana test Positive urine pot test Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH). PMID:21134021 Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine. 2018-06-25T16:04:20Z human_phenotype HP:0500111 Positive urine benzodiazepines test HP:0500111 Detection of amphetamine or its metabolites in urine. 2018-06-25T16:49:42Z human_phenotype HP:0500112 Positive urine amphetamine test HP:0500112 Detection of opioids or opioid metabolites in urine. 2018-06-25T17:20:19Z human_phenotype HP:0500113 Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone). Positive urine opioid test HP:0500113 Abnormal concentration of urobilinogen present in the stool. 2018-07-20T14:59:44Z human_phenotype HP:0500114 Abnormal stool urobilinogen concentration HP:0500114 Abnormal concentration of urobilinogen present in the stool. https://orcid.org/0000-0001-7941-2961 An increased amount of urobilinogen present in the stool. 2018-07-20T15:00:15Z human_phenotype HP:0500115 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. Increased stool urobilinogen concentration HP:0500115 An increased amount of urobilinogen present in the stool. https://orcid.org/0000-0001-7941-2961 Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease. https://orcid.org/0000-0002-0736-9199 Detection of barbiturate metabolites such as Phenobarbital in blood. 2018-07-20T15:10:44Z human_phenotype HP:0500116 Positive blood barbiturate test HP:0500116 Detection of barbiturate metabolites such as Phenobarbital in blood. https://orcid.org/0000-0001-7941-2961 Abnormal concentration of urate in the cerebrospinal fluid (CSF). 2018-07-20T15:35:00Z human_phenotype HP:0500117 Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. Abnormal CSF urate concentration HP:0500117 Abnormal concentration of urate in the cerebrospinal fluid (CSF). https://orcid.org/0000-0001-7941-2961 Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis. PMID:15571231 The concentration of valine in the blood circulation is below the lower limit of normal. 2018-10-01T14:47:05Z Decreased valine concentration Decreased valine level Decreased valine level in blood Hypovalinemia Low blood valine concentration Reduced valine concentration Reduced valine level Reduced valine level in blood human_phenotype HP:0500132 Hypovalinemia HP:0500132 Low blood valine concentration https://orcid.org/0000-0001-7941-2961 An decreased concentration of tyrosine in the blood. 2018-10-01T15:01:56Z Decreased tyrosine in blood Low blood tyrosine concentration human_phenotype HP:0500133 Hypotyrosinemia HP:0500133 An decreased concentration of tyrosine in the blood. https://orcid.org/0000-0001-7941-2961 Decreased tyrosine in blood https://orcid.org/0000-0001-7941-2961 Low blood tyrosine concentration https://orcid.org/0000-0001-7941-2961 The concentration of tryptophan in the blood circulation is above the upper limit of normal. 2018-10-01T15:09:12Z Elevated tryptophan concentration Elevated tryptophan level Elevated tryptophan level in blood High blood tryptophan concentration Hypertryptophanemia Increased tryptophan concentration Increased tryptophan in blood Increased tryptophan level Increased tryptophan level in blood human_phenotype HP:0500134 Hypertryptophanemia HP:0500134 High blood tryptophan concentration https://orcid.org/0000-0001-7941-2961 Increased tryptophan in blood https://orcid.org/0000-0001-7941-2961 The concentration of tryptophan in the blood circulation is below the lower limit of normal. 2018-10-01T15:10:31Z Decreased tryptophan concentration Decreased tryptophan in blood Decreased tryptophan level Decreased tryptophan level in blood Hypotryptophanemia Low blood tryptophan concentration Reduced tryptophan concentration Reduced tryptophan level Reduced tryptophan level in blood human_phenotype HP:0500135 Hypotryptophanemia HP:0500135 Decreased tryptophan in blood https://orcid.org/0000-0001-7941-2961 Low blood tryptophan concentration https://orcid.org/0000-0001-7941-2961 The concentration of threonine in the blood circulation is below the lower limit of normal. 2018-10-01T16:07:19Z Decreased circulating threonine levels Decreased threonine blood levels Decreased threonine concentration Decreased threonine level Decreased threonine level in blood Hypothreoninemia Low blood threonine concentration Reduced threonine concentration Reduced threonine level Reduced threonine level in blood human_phenotype HP:0500136 Hypothreoninemia HP:0500136 Decreased threonine blood levels https://orcid.org/0000-0001-7941-2961 Low blood threonine concentration https://orcid.org/0000-0001-7941-2961 An increased amount of serine in the blood. 2018-10-01T16:54:02Z Elevated circulating serine levels High blood serine levels Increased serine blood concentration human_phenotype HP:0500138 Hyperserinemia HP:0500138 High blood serine levels https://orcid.org/0000-0001-7941-2961 Increased serine blood concentration https://orcid.org/0000-0001-7941-2961 The concentration of proline in the blood circulation is below the lower limit of normal. 2018-10-03T19:35:50Z Decreased blood proline levels Decreased proline concentration Decreased proline level Decreased proline level in blood Hypoprolinemia Low blood proline concentration Reduced proline concentration Reduced proline level Reduced proline level in blood human_phenotype HP:0500139 Hypoprolinemia HP:0500139 Decreased blood proline levels https://orcid.org/0000-0001-7941-2961 Low blood proline concentration https://orcid.org/0000-0001-7941-2961 A decreased amount of hydroxyproline in the blood. 2018-10-03T19:43:23Z Decreased hydroxyproline in the blood Low level of hydroxyproline in the blood human_phenotype HP:0500140 Decreased circulating hydroxyproline concentration HP:0500140 A decreased amount of hydroxyproline in the blood. PMID:4690509 Decreased hydroxyproline in the blood PMID:4690509 Low level of hydroxyproline in the blood PMID:4690509 The concentration of phenylalanine in the blood circulation is below the lower limit of normal. 2018-10-03T19:58:21Z Decreased blood phenylalanine Decreased phenylalanine concentration Decreased phenylalanine level Decreased phenylalanine level in blood Hypophenylalaninemia Low blood phenylalanine Reduced phenylalanine concentration Reduced phenylalanine level Reduced phenylalanine level in blood human_phenotype HP:0500141 Hypophenylalaninemia HP:0500141 Decreased blood phenylalanine https://orcid.org/0000-0001-7941-2961 Low blood phenylalanine https://orcid.org/0000-0001-7941-2961 The concentration of lysine in the blood circulation is below the lower limit of normal. 2018-10-03T20:04:58Z Decreased blood lysine Decreased lysine concentration Decreased lysine level Decreased lysine level in blood Hypolysinemia Low blood lysine levels Reduced lysine concentration Reduced lysine level Reduced lysine level in blood human_phenotype HP:0500142 Hypolysinemia HP:0500142 Decreased blood lysine https://orcid.org/0000-0001-7941-2961 Low blood lysine levels https://orcid.org/0000-0001-7941-2961 The concentration of leucine in the blood circulation is below the lower limit of normal. 2018-10-04T13:17:00Z Decreased blood concentration of leucine Decreased leucine concentration Decreased leucine level Decreased leucine level in blood Hypoleucinemia Low blood leucine levels Reduced leucine concentration Reduced leucine level Reduced leucine level in blood human_phenotype HP:0500143 Hypoleucinemia HP:0500143 Decreased blood concentration of leucine https://orcid.org/0000-0001-7941-2961 Low blood leucine levels https://orcid.org/0000-0001-7941-2961 The concentration of isoleucine in the blood circulation is below the lower limit of normal. 2018-10-04T13:22:24Z Decreased blood isoleucine concentration Decreased isoleucine concentration Decreased isoleucine level Decreased isoleucine level in blood Hypoisoleucinemia Low blood isoleucine levels Reduced isoleucine concentration Reduced isoleucine level Reduced isoleucine level in blood human_phenotype HP:0500144 Hypoisoleucinemia HP:0500144 Decreased blood isoleucine concentration https://orcid.org/0000-0001-7941-2961 Low blood isoleucine levels https://orcid.org/0000-0001-7941-2961 The concentration of histidine in the blood circulation is below the lower limit of normal. 2018-10-04T13:28:34Z Decreased blood histidine concentration Decreased histidine concentration Decreased histidine level Decreased histidine level in blood Hypohistidinemia Low blood histidine levels Reduced histidine concentration Reduced histidine level Reduced histidine level in blood human_phenotype HP:0500145 Hypohistidinemia HP:0500145 Decreased blood histidine concentration https://orcid.org/0000-0001-7941-2961 Low blood histidine levels https://orcid.org/0000-0001-7941-2961 The concentration of glutamine in the blood circulation is below the lower limit of normal. 2018-10-04T14:11:16Z Decreased blood glutamine concentration Decreased glutamine concentration Decreased glutamine level Decreased glutamine level in blood Hypoglutaminemia Low blood glutamine level Reduced glutamine concentration Reduced glutamine level Reduced glutamine level in blood human_phenotype HP:0500147 Hypoglutaminemia HP:0500147 Decreased blood glutamine concentration https://orcid.org/0000-0001-7941-2961 Low blood glutamine level https://orcid.org/0000-0001-7941-2961 Any deviation from the normal concentration of glutamate in the blood circulation. 2018-10-04T14:22:57Z Abnormality of glutamate metabolism human_phenotype HP:0500148 Abnormal circulating glutamate concentration HP:0500148 Concentration of glutamate in the blood circulation above the upper limit of normal. 2018-10-04T14:29:35Z HP:0410068 High blood glutamate levels Increased blood glutamate concentration Increased level of L-glutamic acid in blood human_phenotype HP:0500149 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. Hyperglutamatemia HP:0500149 Concentration of glutamate in the blood circulation above the upper limit of normal. PMID:22949847 PMID:7623444 High blood glutamate levels https://orcid.org/0000-0001-7941-2961 Increased blood glutamate concentration https://orcid.org/0000-0001-7941-2961 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. PMID:22949847 A decreased amount of glutamate in the blood. 2018-10-04T14:29:47Z Decreased blood glutamate concentrations Low blood glutamate levels human_phenotype HP:0500150 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. Hypoglutamatemia HP:0500150 A decreased amount of glutamate in the blood. PMID:22949847 Decreased blood glutamate concentrations https://orcid.org/0000-0001-7941-2961 Low blood glutamate levels https://orcid.org/0000-0001-7941-2961 Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L. PMID:22949847 An increased amount of cystine in the blood. 2018-10-04T14:59:26Z High blood cystine levels Increased blood cystine concentration human_phenotype HP:0500151 Hypercystinemia HP:0500151 An increased amount of cystine in the blood. https://orcid.org/0000-0001-7941-2961 High blood cystine levels https://orcid.org/0000-0001-7941-2961 Increased blood cystine concentration https://orcid.org/0000-0001-7941-2961 A decreased amount of cystine in the blood. 2018-10-04T14:59:36Z Decreased blood cystine concentration Low blood cystine levels human_phenotype HP:0500152 Hypocystinemia HP:0500152 A decreased amount of cystine in the blood. https://orcid.org/0000-0001-7941-2961 Decreased blood cystine concentration https://orcid.org/0000-0001-7941-2961 Low blood cystine levels https://orcid.org/0000-0001-7941-2961 An increased amount of arginine levels in the blood. 2018-10-05T14:45:02Z High blood arginine levels Increased blood arginine concentration human_phenotype HP:0500153 Hyperargininemia HP:0500153 An increased amount of arginine levels in the blood. https://orcid.org/0000-0001-7941-2961 High blood arginine levels https://orcid.org/0000-0001-7941-2961 Increased blood arginine concentration https://orcid.org/0000-0001-7941-2961 A decreased amount of alanine in the blood. 2018-10-05T14:55:51Z Decreased blood alanine concentration Low blood alanine levels human_phenotype HP:0500154 Hypoalaninemia HP:0500154 A decreased amount of alanine in the blood. https://orcid.org/0000-0001-7941-2961 Decreased blood alanine concentration https://orcid.org/0000-0001-7941-2961 Low blood alanine levels https://orcid.org/0000-0001-7941-2961 Any deviation from the normal concentration of asparagine in the blood circulation. 2018-10-05T15:06:56Z Abnormality of asparagine metabolism human_phenotype HP:0500155 Asparagine is a polar, aliphatic amino acid. Abnormal circulating asparagine concentration HP:0500155 Any deviation from the normal concentration of asparagine in the blood circulation. https://orcid.org/0000-0001-7941-2961 An increased amount of asparagine in the blood. 2018-10-05T15:12:27Z High blood asaparagine levels Increased blood asparagine concentration human_phenotype HP:0500156 Hyperasparaginemia HP:0500156 An increased amount of asparagine in the blood. https://orcid.org/0000-0001-7941-2961 High blood asaparagine levels https://orcid.org/0000-0001-7941-2961 Increased blood asparagine concentration https://orcid.org/0000-0001-7941-2961 A decreased amount of asparagine in the blood. 2018-10-05T15:12:38Z Decreased blood asparagine concentration Low blood asparagine levels human_phenotype HP:0500157 Hypoasparaginemia HP:0500157 A decreased amount of asparagine in the blood. https://orcid.org/0000-0001-7941-2961 Decreased blood asparagine concentration https://orcid.org/0000-0001-7941-2961 Low blood asparagine levels https://orcid.org/0000-0001-7941-2961 Any deviation from the normal concentration of aspartate in the blood circulation. 2018-10-05T15:26:40Z Abnormal circulating aspartate concentration human_phenotype HP:0500158 Aspartate is classified as an acidic amino acid. Abnormal circulating aspartic acid concentration HP:0500158 Any deviation from the normal concentration of aspartate in the blood circulation. https://orcid.org/0000-0001-7941-2961 An increased concentration of aspartic acid in the blood circulation. 2018-10-05T15:38:23Z High blood aspartic acid levels Increased blood aspartic acid Increased level of circulating aspartic acid human_phenotype HP:0500159 Increased circulating aspartic acid concentration HP:0500159 An increased concentration of aspartic acid in the blood circulation. PMID:7353275 High blood aspartic acid levels https://orcid.org/0000-0001-7941-2961 Increased blood aspartic acid https://orcid.org/0000-0001-7941-2961 Any deviation from the normal concentration of carnosine in the blood circulation. 2018-10-05T15:52:07Z Abnormality of carnosine metabolism human_phenotype HP:0500160 Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine. Abnormal circulating carnosine concentration HP:0500160 Any deviation from the normal concentration of carnosine in the blood circulation. PMID:20017611 https://orcid.org/0000-0001-7941-2961 Concentration of carnosine in the blood circulation above normal limits. 2018-10-05T16:07:32Z High blood carnosine levels Increased blood carnosine concentration Increased level of carnosine in blood human_phenotype HP:0500161 Increased circulating carnosine concentration HP:0500161 Concentration of carnosine in the blood circulation above normal limits. https://orcid.org/0000-0001-7941-2961 High blood carnosine levels https://orcid.org/0000-0001-7941-2961 Increased blood carnosine concentration https://orcid.org/0000-0001-7941-2961 A decreased amount of carnosine in blood. 2018-10-05T16:11:06Z Decreased blood carnosine concentration Decreased level of carnosine in blood Low blood carnosine levels human_phenotype HP:0500162 Decreased circulating carnosine concentration HP:0500162 A decreased amount of carnosine in blood. https://orcid.org/0000-0001-7941-2961 Decreased blood carnosine concentration https://orcid.org/0000-0001-7941-2961 Low blood carnosine levels https://orcid.org/0000-0001-7941-2961 An abnormal decrease in ornithine in the blood. 2018-10-12T13:25:49Z Decreased blood ornithine concentrations Low blood ornithine levels human_phenotype HP:0500163 Hypoornithinemia HP:0500163 An abnormal decrease in ornithine in the blood. https://orcid.org/0000-0001-7941-2961 Decreased blood ornithine concentrations https://orcid.org/0000-0001-7941-2961 Low blood ornithine levels https://orcid.org/0000-0001-7941-2961 An abnormality of carbon dioxide (CO2) in the arterial blood. 2018-10-17T15:09:16Z Abnormal CO2 levels in blood Abnormal blood carbon dioxide level human_phenotype HP:0500164 Abnormal blood carbon dioxide level HP:0500164 An abnormality of carbon dioxide (CO2) in the arterial blood. https://orcid.org/0000-0001-7941-2961 Abnormal CO2 levels in blood https://orcid.org/0000-0001-7941-2961 Abnormal blood carbon dioxide level https://orcid.org/0000-0001-7941-2961 An abnormality of the partial pressure of oxygen in the arterial blood. 2018-10-17T15:14:35Z Abnormal O2 blood concentration Abnormal blood O2 level Abnormal blood oxygen levels human_phenotype HP:0500165 Abnormal blood oxygen level HP:0500165 An abnormality of the partial pressure of oxygen in the arterial blood. https://orcid.org/0000-0002-0736-9199 Abnormal O2 blood concentration https://orcid.org/0000-0001-7941-2961 Abnormal blood O2 level Abnormal blood oxygen levels https://orcid.org/0000-0001-7941-2961 An abnormal concentration of gastrin in the blood. 2018-11-05T18:46:36Z Abnormal circulating gastrin level human_phenotype HP:0500166 Abnormal circulating gastrin concentration HP:0500166 An abnormal concentration of gastrin in the blood. https://orcid.org/0000-0001-7941-2961 An elevated amount of gastrin in the blood. 2018-11-05T18:51:20Z Elevated gastrin in the blood Increased blood gastrin human_phenotype HP:0500167 Hypergastrinemia HP:0500167 An elevated amount of gastrin in the blood. https://orcid.org/0000-0001-7941-2961 Elevated gastrin in the blood https://orcid.org/0000-0001-7941-2961 Increased blood gastrin https://orcid.org/0000-0001-7941-2961 An abnormal amount of acylcarnitine in the urine. 2018-11-05T19:19:05Z human_phenotype HP:0500170 Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. Abnormal concentration of acylcarnitine in the urine HP:0500170 An abnormal amount of acylcarnitine in the urine. https://orcid.org/0000-0001-7941-2961 Combined, the total daily bile and urine production of acylcarnitine is <200 micromol. PMID:23258903 A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. 2018-11-20T13:57:33Z Reflex anoxic seizure Reflex anoxic seizures human_phenotype HP:0500173 Reflex asystolic syncope HP:0500173 A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. PMID:23814085 Reflex anoxic seizure PMID:23814085 Reflex anoxic seizures PMID:23814085 Any deviation from the normal concentration of amino sulfonic acid in the blood circulation. 2019-02-22T17:26:10Z Abnormal amino sulfonic acid level Abnormal circulating amino sulfonic acid concentration human_phenotype HP:0500180 Abnormal circulating amino sulfonic acid concentration HP:0500180 An increased amount of taurine in the blood. 2019-02-22T17:28:00Z Elevated serum taurine levels Increased circulating taurine levels in the blood human_phenotype HP:0500181 Hypertaurinemia HP:0500181 A decreased amount of taurine in the blood. 2019-02-22T17:29:23Z Decreased circulating taurine levels Lower blood levels of taurine Reduced taurine levels in the blood human_phenotype HP:0500182 Hypotaurinemia HP:0500182 Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. 2019-02-25T15:15:53Z human_phenotype HP:0500183 Abnormal CSF carboxylic acid concentration HP:0500183 Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. 2019-02-25T15:20:22Z HP:0032364 Abnormal CSF amino acid level Abnormal amino acid levels in cerebrospinal fluid Abnormal cerebrospinal fluid amino acid level human_phenotype HP:0500184 Abnormal CSF amino acid concentration HP:0500184 Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. PMID:715764 Abnormal amino acid levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. 2019-02-25T15:24:13Z Abnormal branched-chain amino acid levels in cerbrospinal fluid human_phenotype HP:0500185 Abnormal CSF branched chain amino acid concentration HP:0500185 Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. PMID:715764 Abnormal branched-chain amino acid levels in cerbrospinal fluid PMID:715764 Any deviation from the normal concentration of valine in the cerebrospinal fluid. 2019-02-25T15:28:13Z Abnormal valine levels in cerebrospinal fluid human_phenotype HP:0500186 Abnormal CSF valine concentration HP:0500186 Any deviation from the normal concentration of valine in the cerebrospinal fluid. PMID:715764 Abnormal valine levels in cerebrospinal fluid PMID:715764 Any increased amount from normal of valine in the cerebrospinal fluid. 2019-02-25T15:37:57Z High valine levels in cerebrospinal fluid human_phenotype HP:0500187 Increased CSF valine concentration HP:0500187 Any increased amount from normal of valine in the cerebrospinal fluid. PMID:715764 High valine levels in cerebrospinal fluid PMID:715764 Any decreased amount from normal of valine in the cerebrospinal fluid. 2019-02-25T15:40:23Z Low valine levels in cerebrospinal fluid human_phenotype HP:0500188 Decreased CSF valine concentration HP:0500188 Any decreased amount from normal of valine in the cerebrospinal fluid. PMID:715764 Low valine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of leucine in the cerebrospinal fluid. 2019-02-25T15:52:19Z Abnormal leucine levels in cerebrospinal fluid human_phenotype HP:0500189 Abnormal CSF leucine concentration HP:0500189 Any deviation from the normal concentration of leucine in the cerebrospinal fluid. PMID:715764 Abnormal leucine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of leucine in the cerebrospinal fluid. 2019-02-25T15:52:49Z Low leucine levels in cerebrospinal fluid human_phenotype HP:0500190 Decreased CSF leucine concentration HP:0500190 Abnormally decreased levels of leucine in the cerebrospinal fluid. PMID:715764 Low leucine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of leucine in cerebrospinal fluid. 2019-02-25T15:53:12Z High leucine levels in cerebrospinal fluid human_phenotype HP:0500191 Increased CSF leucine concentration HP:0500191 Abnormally increased levels of leucine in cerebrospinal fluid. PMID:715764 High leucine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. 2019-02-25T16:24:44Z Abnormal isoleucine levels in cerebrospinal fluid human_phenotype HP:0500192 Abnormal CSF isoleucine concentration HP:0500192 Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. PMID:715764 Abnormal isoleucine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of isoleucine in cerebrospinal fluid. 2019-02-25T16:25:11Z High levels of isoleucine in cerebrospinal fluid human_phenotype HP:0500193 Increased CSF isoleucine concentration HP:0500193 Abnormally increased levels of isoleucine in cerebrospinal fluid. PMID:715764 High levels of isoleucine in cerebrospinal fluid PMID:715764 Abnormally decreased levels of isoleucine in cerebrospinal fluid. 2019-02-25T16:25:36Z Low levels of isoleucine in cerebrospinal fluid human_phenotype HP:0500194 Decreased CSF isoleucine concentration HP:0500194 Abnormally decreased levels of isoleucine in cerebrospinal fluid. PMID:715764 Low levels of isoleucine in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. 2019-02-25T16:41:53Z Abnormal glutamine family amino acid levels in cerebrospinal fluid human_phenotype HP:0500195 Abnormal CSF glutamine family amino acid concentration HP:0500195 Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. PMID:715764 Abnormal glutamine family amino acid levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. 2019-02-25T16:42:34Z Abnormal glutamine levels in cerebrospinal fluid human_phenotype HP:0500196 Abnormal CSF glutamine concentration HP:0500196 Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. PMID:715764 Abnormal glutamine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of glutamine in cerebrospinal fluid. 2019-02-25T16:43:02Z High glutamine levels in cerebrospinal fluid human_phenotype HP:0500197 Increased CSF glutamine concentration HP:0500197 Abnormally increased levels of glutamine in cerebrospinal fluid. PMID:715764 High glutamine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of glutamine in cerebrospinal fluid. 2019-02-25T16:43:22Z Low glutamine levels in cerebrospinal fluid human_phenotype HP:0500198 Decreased CSF glutamine concentration HP:0500198 Abnormally decreased levels of glutamine in cerebrospinal fluid. PMID:715764 Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. 2019-02-25T16:56:56Z Abnormal glutamic acid levels in cerebrospinal fluid human_phenotype HP:0500199 Abnormal CSF glutamate concentration HP:0500199 Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. PMID:715764 Abnormal glutamic acid levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of glutamic acid in cerebrospinal fluid. 2019-02-25T16:57:13Z High glutamic acid levels in cerebrospinal fluid human_phenotype HP:0500200 Increased CSF glutamate concentration HP:0500200 Abnormally increased levels of glutamic acid in cerebrospinal fluid. PMID:715764 High glutamic acid levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of glutamic acid in cerebrospinal fluid. 2019-02-25T16:57:30Z Low glutamic acid levels in cerebrospinal fluid human_phenotype HP:0500201 Decreased CSF glutamate concentration HP:0500201 Abnormally decreased levels of glutamic acid in cerebrospinal fluid. PMID:715764 Low glutamic acid levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of arginine in the cerebrospinal fluid. 2019-02-25T17:12:23Z Abnormal arginine levels in cerebrospinal fluid human_phenotype HP:0500202 Abnormal CSF arginine concentration HP:0500202 Any deviation from the normal concentration of arginine in the cerebrospinal fluid. PMID:715764 Abnormal arginine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of arginine in cerebrospinal fluid. 2019-02-25T17:12:38Z High arginine levels in cerebrospinal fluid human_phenotype HP:0500203 Increased CSF arginine concentration HP:0500203 Abnormally increased levels of arginine in cerebrospinal fluid. PMID:715764 High arginine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of arginine in cerebrospinal fluid. 2019-02-25T17:12:54Z Low arginine levels in cerebrospinal fluid human_phenotype HP:0500204 Decreased CSF arginine concentration HP:0500204 Abnormally decreased levels of arginine in cerebrospinal fluid. PMID:715764 Low arginine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. 2019-02-25T18:30:37Z Abnormal aspartate-family amino acid levels in cerebrospinal fluid human_phenotype HP:0500205 Abnormal CSF aspartate family amino acid concentration HP:0500205 Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. PMID:715764 Any deviation from the normal concentration of lysine in the cerebrospinal fluid. 2019-02-25T18:31:42Z Abnormal lysine levels in cerebrospinal fluid human_phenotype HP:0500206 Abnormal CSF lysine concentration HP:0500206 Any deviation from the normal concentration of lysine in the cerebrospinal fluid. PMID:715764 Abnormal lysine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of lysine in cerebrospinal fluid. 2019-02-25T18:31:54Z Low lysine levels in cerebrospinal fluid human_phenotype HP:0500207 Decreased CSF lysine concentration HP:0500207 Abnormally decreased levels of lysine in cerebrospinal fluid. PMID:715764 Low lysine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of lysine in cerebrospinal fluid. 2019-02-25T18:32:16Z High lysine levels in cerebrospinal fluid human_phenotype HP:0500208 Increased CSF lysine concentration HP:0500208 Any deviation from the normal concentration of methionine in the cerebrospinal fluid. 2019-02-25T18:58:00Z Abnormal methionine levels in cerebrospinal fluid human_phenotype HP:0500209 Abnormal CSF methionine concentration HP:0500209 Any deviation from the normal concentration of methionine in the cerebrospinal fluid. PMID:715764 Abnormal methionine levels in cerebrospinal fluid PMID:715764 Concentration of methionine in the cerebrospinal fluid above the upper limit of normal. 2019-02-25T18:58:44Z High methionine levels in cerebrospinal fluid human_phenotype HP:0500210 Increased CSF methionine concentration HP:0500210 Concentration of methionine in the cerebrospinal fluid above the upper limit of normal. PMID:715764 High methionine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of threonine in the cerebrospinal fluid. 2019-02-25T19:08:53Z Abnormal threonine levels in cerebrospinal fluid human_phenotype HP:0500211 Abnormal CSF threonine concentration HP:0500211 Any deviation from the normal concentration of threonine in the cerebrospinal fluid. PMID:715764 Abnormal threonine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of threonine in cerebrospinal fluid. 2019-02-25T19:09:32Z High threonine levels in cerebrospinal fluid human_phenotype HP:0500212 Increased CSF threonine concentration HP:0500212 Abnormally increased levels of threonine in cerebrospinal fluid. PMID:715764 High threonine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of threonine in cerebrospinal fluid. 2019-02-25T19:10:14Z Low threonine levels in the cerebrospinal fluid human_phenotype HP:0500213 Decreased CSF threonine concentration HP:0500213 Abnormally decreased levels of threonine in cerebrospinal fluid. PMID:715764 Low threonine levels in the cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. 2019-02-25T19:28:05Z Abnormal aromatic amino acid levels in cerebrospinal fluid human_phenotype HP:0500214 Abnormal CSF aromatic amino acid concentration HP:0500214 Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. PMID:715764 Abnormal aromatic amino acid levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. 2019-02-25T19:28:51Z Abnormal phenylalanine levels in cerebrospinal fluid human_phenotype HP:0500215 Abnormal CSF phenylalanine concentration HP:0500215 Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. PMID:715764 Abnormal phenylalanine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. 2019-02-25T19:31:26Z Abnormal CSF aspartic acid concentration Abnormal aspartic acid levels in cerebrospinal fluid human_phenotype HP:0500216 Abnormal CSF aspartate concentration HP:0500216 Abnormally increased levels of aspartic acid in cerebrospinal fluid. 2019-02-25T19:32:03Z High aspartic acid levels in cerebrospinal fluid Increased CSF aspartic acid concentration human_phenotype HP:0500217 Increased CSF aspartate concentration HP:0500217 Abnormally increased levels of aspartic acid in cerebrospinal fluid. PMID:715764 High aspartic acid levels in cerebrospinal fluid PMID:715764 Increased CSF aspartic acid concentration PMID:715764 Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. 2019-02-25T19:44:06Z Abnormal tryptophan levels in cerebrospinal fluid human_phenotype HP:0500218 Abnormal CSF tryptophan concentration HP:0500218 Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. PMID:715764 Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. 2019-02-25T19:48:03Z Abnormal tyrosine levels in cerebrospinal fluid human_phenotype HP:0500219 Abnormal CSF tyrosine concentration HP:0500219 Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. PMID:715764 Abnormal tyrosine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of tyrosine in cerebrospinal fluid. 2019-02-25T19:53:00Z High tyrosine levels in cerebrospinal fluid human_phenotype HP:0500220 Increased CSF tyrosine concentration HP:0500220 Abnormally increased levels of tyrosine in cerebrospinal fluid. PMID:715764 High tyrosine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of tyrosine in cerebrospinal fluid. 2019-02-25T19:53:22Z Low tyrosine levels in the cerebrospinal fluid human_phenotype HP:0500221 Decreased CSF tyrosine concentration HP:0500221 Abnormally decreased levels of tyrosine in cerebrospinal fluid. PMID:715764 Low tyrosine levels in the cerebrospinal fluid PMID:715764 Abnormally increased levels of tryptophan in cerebrospinal fluid. 2019-02-25T20:07:30Z High tryptophan levels in cerebrospinal fluid human_phenotype HP:0500222 Increased CSF tryptophan concentration HP:0500222 Abnormally increased levels of tryptophan in cerebrospinal fluid. PMID:715764 High tryptophan levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of phenylalanine in cerebrospinal fluid. 2019-02-25T20:13:37Z High phenylalanine levels in cerebrospinal fluid human_phenotype HP:0500223 Increased CSF phenylalanine concentration HP:0500223 Abnormally increased levels of phenylalanine in cerebrospinal fluid. PMID:715764 High phenylalanine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of phenylalanine in cerebrospinal fluid. 2019-02-25T20:13:51Z Low phenylalanine levels in cerebrospinal fluid human_phenotype HP:0500224 Decreased CSF phenylalanine concentration HP:0500224 Abnormally decreased levels of phenylalanine in cerebrospinal fluid. PMID:715764 Low phenylalanine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. 2019-02-25T20:27:34Z Abnormal serine-family amino acid levels in cerebrospinal fluid human_phenotype HP:0500225 Abnormal CSF serine family amino acid concentration HP:0500225 Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. PMID:715764 Abnormal serine-family amino acid levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of serine in the cerebrospinal fluid. 2019-02-25T20:30:42Z Abnormal serine levels in cerebrospinal fluid human_phenotype HP:0500226 Abnormal CSF serine concentration HP:0500226 Any deviation from the normal concentration of serine in the cerebrospinal fluid. PMID:715764 Abnormal serine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of serine in cerebrospinal fluid. 2019-02-25T20:32:30Z High serine levels in cerebrospinal fluid human_phenotype HP:0500227 Increased CSF serine concentration HP:0500227 Abnormally increased levels of serine in cerebrospinal fluid. PMID:715764 High serine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of serine in cerebrospinal fluid. 2019-02-25T20:32:46Z Low serine levels in cerebrospinal fluid human_phenotype HP:0500228 Decreased CSF serine concentration HP:0500228 Abnormally decreased levels of serine in cerebrospinal fluid. PMID:715764 Low serine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of glycine in the cerebrospinal fluid. 2019-02-25T20:40:09Z Abnormal glycine levels in cerebrospinal fluid human_phenotype HP:0500229 Abnormal CSF glycine concentration HP:0500229 Any deviation from the normal concentration of glycine in the cerebrospinal fluid. PMID:715764 Abnormally increased levels of glycine in cerebrospinal fluid. 2019-02-25T20:40:30Z High glycine levels in cerebrospinal fluid human_phenotype HP:0500230 Increased CSF glycine concentration HP:0500230 Abnormally increased levels of glycine in cerebrospinal fluid. PMID:715764 High glycine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. 2019-02-25T20:53:35Z Abnormal pyruvate-family amino acid levels in cerebrospinal fluid human_phenotype HP:0500231 Abnormal CSF pyruvate family amino acid concentration HP:0500231 Any deviation from the normal concentration of alanine in the cerebrospinal fluid. 2019-02-25T20:53:52Z Abnormal alanine levels in cerebrospinal fluid human_phenotype HP:0500232 Abnormal CSF alanine concentration HP:0500232 Any deviation from the normal concentration of alanine in the cerebrospinal fluid. PMID:715764 Abnormal alanine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of alanine in cerebrospinal fluid. 2019-02-25T20:55:23Z High alanine levels in cerebrospinal fluid human_phenotype HP:0500233 Increased CSF alanine concentration HP:0500233 Abnormally increased levels of alanine in cerebrospinal fluid. PMID:715764 High alanine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of alanine in cerebrospinal fluid. 2019-02-25T20:55:37Z Low alanine levels in cerebrospinal fluid human_phenotype HP:0500234 Decreased CSF alanine concentration HP:0500234 Abnormally decreased levels of alanine in cerebrospinal fluid. PMID:715764 Low alanine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of histidine in the cerebrospinal fluid. 2019-02-25T21:07:30Z Abnormal histidine levels in cerebrospinal fluid human_phenotype HP:0500235 Abnormal CSF histidine concentration HP:0500235 Any deviation from the normal concentration of histidine in the cerebrospinal fluid. PMID:715764 Abnormal histidine levels in cerebrospinal fluid PMID:715764 Abnormally increased levels of histidine in cerebrospinal fluid. 2019-02-25T21:08:11Z High histidine levels in cerebrospinal fluid human_phenotype HP:0500236 Increased CSF histidine concentration HP:0500236 Abnormally increased levels of histidine in cerebrospinal fluid. PMID:715764 High histidine levels in cerebrospinal fluid PMID:715764 Abnormally decreased levels of histidine in cerebrospinal fluid. 2019-02-25T21:08:33Z Low histidine levels in cerebrospinal fluid human_phenotype HP:0500237 Decreased CSF histidine concentration HP:0500237 Abnormally decreased levels of histidine in cerebrospinal fluid. PMID:715764 Low histidine levels in cerebrospinal fluid PMID:715764 Any deviation from the normal concentration of albumin in the cerebrospinal fluid. 2019-02-26T15:00:29Z Abnormal albumin levels in cerebrospinal fluid human_phenotype HP:0500238 Abnormal CSF albumin concentration HP:0500238 Any deviation from the normal concentration of albumin in the cerebrospinal fluid. PMID:27067000 Abnormal albumin levels in cerebrospinal fluid PMID:27067000 2019-02-26T15:00:54Z High albumin levels in cerebrospinal fluid human_phenotype HP:0500239 Abnormally increased levels of albumin in cerebrospinal fluid. Increased CSF albumin concentration HP:0500239 High albumin levels in cerebrospinal fluid PMID:27067000 Abnormally increased levels of albumin in cerebrospinal fluid. PMID:27067000 Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. 2019-02-26T15:25:43Z Abnormal carnosine levels in cerebrospinal fluid human_phenotype HP:0500240 Abnormal CSF carnosine concentration HP:0500240 Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. PMID:16341596 Abnormal carnosine levels in cerebrospinal fluid PMID:16341596 Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. 2019-02-26T15:26:01Z Abnormal homocarnosine levels in cerebrospinal fluid human_phenotype HP:0500241 Abnormal CSF homocarnosine concentration HP:0500241 Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. PMID:16341596 Abnormal homocarnosine levels in cerebrospinal fluid PMID:16341596 Abnormally increased levels of homocarnosine in cerebrospinal fluid. 2019-02-26T15:26:24Z High homocarnosine levels in cerebrospinal fluid human_phenotype HP:0500242 Increased CSF homocarnosine concentration HP:0500242 Abnormally increased levels of homocarnosine in cerebrospinal fluid. PMID:16341596 High homocarnosine levels in cerebrospinal fluid PMID:16341596 Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. 2019-02-26T15:36:15Z Abnormal ornithine levels in cerebrospinal fluid human_phenotype HP:0500243 Abnormal CSF ornithine concentration HP:0500243 Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. PMID:20551690 Abnormal ornithine levels in cerebrospinal fluid PMID:20551690 Abnormally increased levels of ornithine in cerebrospinal fluid. 2019-02-26T15:36:36Z High ornithine levels in cerebrospinal fluid human_phenotype HP:0500244 Increased CSF ornithine concentration HP:0500244 Abnormally increased levels of ornithine in cerebrospinal fluid. PMID:20551690 High ornithine levels in cerebrospinal fluid PMID:20551690 Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. 2019-02-26T15:48:42Z Abnormal citrulline levels in cerebrospinal fluid human_phenotype HP:0500245 Abnormal CSF citrulline concentration HP:0500245 Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. PMID:16793028 Abnormal citrulline levels in cerebrospinal fluid PMID:16793028 Abnormally increased levels of citrulline in cerebrospinal fluid. 2019-02-26T15:49:01Z High citrulline levels in cerebrospinal fluid human_phenotype HP:0500246 Increased CSF citrulline concentration HP:0500246 Abnormally increased levels of citrulline in cerebrospinal fluid. PMID:16793028 High citrulline levels in cerebrospinal fluid PMID:16793028 Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. 2019-02-26T15:59:10Z Abnormal alpha-aminobutyrate levels in cerebrospinal fluid human_phenotype HP:0500247 Abnormal CSF alpha-aminobutyrate concentration HP:0500247 Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. PMID:3397910 Abnormal alpha-aminobutyrate levels in cerebrospinal fluid PMID:3397910 Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal. 2019-02-26T15:59:28Z High alpha-aminobutyrate levels in cerebrospinal fluid human_phenotype HP:0500248 Increased CSF alpha-aminobutyrate concentration HP:0500248 Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal. PMID:3397910 High alpha-aminobutyrate levels in cerebrospinal fluid PMID:3397910 Any deviation from the normal concentration of ethanolamine in circulation. 2019-02-26T16:08:51Z Abnormal ethanolamine levels in the blood human_phenotype HP:0500249 Abnormal circulating ethanolamine concentration HP:0500249 Any deviation from the normal concentration of ethanolamine in circulation. PMID:28785375 Abnormal ethanolamine levels in the blood PMID:28785375 Abnormally increased levels of ethanolamine in circulation. 2019-02-26T16:09:12Z High ethanolamine levels in the blood human_phenotype HP:0500250 Increased circulating ethanolamine concentration HP:0500250 Abnormally increased levels of ethanolamine in circulation. PMID:28785375 High ethanolamine levels in the blood PMID:28785375 Abnormal concentration of sebacic acid in the urine. 2019-03-08T19:58:13Z Abnormal urine decanedioic acid concentration human_phenotype HP:0500251 Abnormal urine sebacic acid concentration HP:0500251 Abnormal concentration of sebacic acid in the urine. PMID:25051233 Elevated concentration of sebacic acid in the urine. 2019-03-08T20:03:22Z Increased urine decanedioic acid concentration human_phenotype HP:0500252 Increased urine sebacic acid concentration HP:0500252 Elevated concentration of sebacic acid in the urine. PMID:25051233 Elevated concentration of gamma-aminobutyric acid in the urine. 2019-03-08T20:23:10Z Increased urinary excretion of gamma-aminobutyric acid (GABA) human_phenotype HP:0500253 Increased level of gamma-aminobutyric acid in urine HP:0500253 Elevated concentration of gamma-aminobutyric acid in the urine. PMID:11121859 Abnormal concentration of hexanoylglycine in the urine. 2019-03-08T20:56:21Z Abnormal urinary N-hexanoylglycine levels human_phenotype HP:0500254 Abnormal urine hexanoylglycine concentration HP:0500254 Abnormal concentration of hexanoylglycine in the urine. PMID:2775902 Abnormal urinary N-hexanoylglycine levels PMID:2775902 Elevated concentration of hexanoylglycine in the urine. 2019-03-08T21:01:41Z Elevated urinary N-hexanoylglycine concentration human_phenotype HP:0500255 Increased level of hexanoylglycine in urine HP:0500255 Elevated concentration of hexanoylglycine in the urine. PMID:2775902 Elevated urinary N-hexanoylglycine concentration PMID:2775902 Abnormal concentration of isobutyrylglycine in the urine. 2019-03-08T21:14:32Z Abnormal urinary isobutyrylglycine levels human_phenotype HP:0500256 Abnormal urine isobutyrylglycine concentration HP:0500256 Abnormal concentration of isobutyrylglycine in the urine. PMID:28053874 Abnormal urinary isobutyrylglycine levels PMID:28053874 Elevated concentration of isobutyrylglycine in the urine. 2019-03-08T21:15:36Z High urinary isobutyrylglycine levels human_phenotype HP:0500257 Increased urine isobutyrylglycine concentration HP:0500257 Elevated concentration of isobutyrylglycine in the urine. PMID:28053874 High urinary isobutyrylglycine levels PMID:28053874 Abnormal amount of carbon dioxide in umbilical cord blood 2019-04-23T17:10:09Z Abnormal CO2 level in cord blood Abnormal umbilical cord blood levels of carbon dioxide human_phenotype HP:0500258 Abnormal carbon dioxide level in cord blood HP:0500258 Abnormal CO2 level in cord blood An abnormal level of blood oxygen in the cord blood. 2019-04-23T17:11:51Z Abnormal O2 level in cord blood Abnormal cord blood oxygen levels Abnormal oxygen amount in umbilical cord blood human_phenotype HP:0500259 Abnormal oxygen level in cord blood HP:0500259 Abnormal O2 level in cord blood Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma. 2019-04-30T14:17:10Z Head trauma triggered symptoms human_phenotype HP:0500260 Triggered by head trauma HP:0500260 Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. 2019-04-30T14:21:26Z Anaesthetics trigger episodes Anaesthetics triggered symptoms Anesthetics trigger episodes Anesthetics triggered symptoms Triggered by anaesthetics human_phenotype HP:0500261 Symptoms that are provoked by anesthetics administration, including halothane, sevoflurane, desflurane, enflurane, isoflurane, propofol, or etomidate. Triggered by anesthetics HP:0500261 Anaesthetics trigger episodes Anaesthetics triggered symptoms Triggered by anaesthetics The most dramatic and severe form of hair loss characterized by an absence of hair follicles. 2019-08-21T15:12:23Z human_phenotype HP:0500262 Atrichia HP:0500262 The most dramatic and severe form of hair loss characterized by an absence of hair follicles. PMID:14676077 HP:0031392 2020-05-15T19:15:28Z human_phenotype HP:0500263 obsolete Abnormal helper T cell proportion true HP:0500263 HP:0032219 2020-05-15T19:19:04Z human_phenotype HP:0500264 obsolete Increased helper T cell proportion true HP:0500264 An increased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. 2020-05-15T19:32:37Z Increased CD8+ TEMRA T cell proportion Increased proportion of CD8-positive TEMRA T cells Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated human_phenotype HP:0500265 Increased CD8+ TEMRA T cell proportion HP:0500265 An increased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. PMID:15838378 An decreased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. 2020-05-15T19:36:00Z Decreased CD8+ TEMRA T cell proportion Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated Decreased proportion of CD8-positive TEMRA T cells human_phenotype HP:0500266 Decreased CD8+ TEMRA T cell proportion HP:0500266 An decreased proportion of CD8-positive effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative. PMID:15838378 An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count. HP:0031392 2020-05-15T20:12:03Z human_phenotype HP:0500267 obsolete Abnormal proportion of CD4-positive helper T cells true HP:0500267 Abnormal increase or decrease of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. 2020-05-19T14:55:58Z HP:0500272 Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T lymphocytes Abnormal proportion of gamma-delta T-lymphocytes Abnormal proportion of gammadelta T cells human_phenotype HP:0500269 Abnormal gamma-delta T cell proportion HP:0500269 Abnormal increase or decrease of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:22420532 https://orcid.org/0000-0001-7941-2961 Abnormal increase of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. 2020-05-19T15:10:25Z HP:0500273 Elevated proportion of gamma-delta T cells Increased proportion of gamma-delta T lymphocytes Increased proportion of gamma-delta T-cells Increased proportion of gamma-delta T-lymphocytes Increased proportion of gammadelta T cells human_phenotype HP:0500270 Increased gamma-delta T cell proportion HP:0500270 Abnormal increase of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:22420532 https://orcid.org/0000-0001-7941-2961 Abnormal decrease of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. 2020-05-19T15:10:45Z HP:0500274 Decreased proportion of gamma-delta T lymphocytes Decreased proportion of gamma-delta T-cells Decreased proportion of gamma-delta T-lymphocytes Decreased proportion of gammadelta T cells Reduced proportion of gamma-delta T cells human_phenotype HP:0500271 Decreased gamma-delta T cell proportion HP:0500271 Abnormal decrease of TCR gamma/delta positive T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. PMID:22420532 https://orcid.org/0000-0001-7941-2961 HP:0500269 2020-05-19T15:39:19Z human_phenotype HP:0500272 obsolete Abnormal immature gamma-delta T cell proportion true HP:0500272 HP:0500270 2020-05-19T15:39:31Z human_phenotype HP:0500273 obsolete Increased proportion of immature gamma-delta T cells true HP:0500273 HP:0500271 2020-05-19T15:39:41Z human_phenotype HP:0500274 obsolete Decreased proportion of immature gamma-delta T cells true HP:0500274 Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. 2017-08-02T22:02:40Z human_phenotype HP:0550003 Proximal scleroderma HP:0550003 Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk. HPO_CONTRIBUTOR:RGD_gthayman PMID:3954464 Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. 2017-08-03T19:50:21Z Flat wart human_phenotype HP:0550004 Verruca plana HP:0550004 Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. HPO_CONTRIBUTOR:ucbasharo Flat wart It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. 2017-08-03T19:57:54Z Lung disease with systemic sclerosis Scleroderma lung disease Scleroderma of lung human_phenotype HP:0550005 Bilateral basilar pulmonary fibrosis HP:0550005 It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis. HPO_CONTRIBUTOR:RGD_gthayman PMID:7378088 HP:0001627 human_phenotype HP:3000001 obsolete Abnormal heart morphology true HP:3000001 Any structural anomaly of an inner ear epithelium. 2014-07-15T23:41:38Z UMLS:C4073211 human_phenotype HP:3000002 Abnormal inner ear epithelium morphology HP:3000002 An abnormality of a mandibular ramus. 2015-02-26T03:38:57Z UMLS:C4073212 Abnormality of mandibular ramus human_phenotype HP:3000003 Abnormal mandibular ramus morphology HP:3000003 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. 2015-02-26T03:42:54Z UMLS:C4073213 human_phenotype HP:3000004 Abnormal frontalis muscle physiology HP:3000004 Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows. PMID:32491684 An abnormality of a masseter muscle. 2015-02-26T03:43:00Z UMLS:C4073214 human_phenotype HP:3000005 Abnormality of masseter muscle HP:3000005 An abnormality of a medial pterygoid muscle. 2015-02-26T03:43:06Z UMLS:C4073215 human_phenotype HP:3000006 Abnormality of medial pterygoid muscle HP:3000006 An abnormality of a mentalis muscle. 2015-02-26T03:43:12Z UMLS:C4073216 human_phenotype HP:3000007 Abnormality of mentalis muscle HP:3000007 An abnormality of a mylohyoid muscle. 2015-02-26T03:43:17Z UMLS:C4073217 human_phenotype HP:3000008 Abnormality of mylohyoid muscle HP:3000008 An abnormality of a nasalis muscle. 2015-02-26T03:55:52Z UMLS:C4073218 human_phenotype HP:3000009 Abnormality of nasalis muscle HP:3000009 An abnormality of an orbicularis oris muscle. 2015-02-26T03:55:58Z UMLS:C4073219 human_phenotype HP:3000010 Abnormality of orbicularis oris muscle HP:3000010 An abnormality of a palatoglossus muscle. 2015-02-26T03:56:03Z UMLS:C4073220 human_phenotype HP:3000011 Abnormality of palatoglossus muscle HP:3000011 An abnormality of a palatopharyngeus muscle. 2015-02-26T03:56:09Z UMLS:C4073221 human_phenotype HP:3000012 Abnormality of palatopharyngeus muscle HP:3000012 An abnormality of the platysma muscle. 2015-02-26T03:56:14Z UMLS:C4073222 Abnormality of platysma Abnormality of the platysma muscle human_phenotype HP:3000013 Abnormal platysma muscle morphology HP:3000013 An abnormality of the platysma muscle. https://orcid.org/0000-0001-5889-4463 An abnormality of a procerus. 2015-02-26T03:58:45Z UMLS:C4073223 human_phenotype HP:3000014 Abnormality of procerus muscle HP:3000014 An abnormality of a risorius muscle. 2015-02-26T03:58:51Z UMLS:C4073224 human_phenotype HP:3000015 Abnormality of risorius muscle HP:3000015 An abnormality of the styloglossus muscle. 2015-02-26T03:58:56Z UMLS:C4073225 human_phenotype HP:3000016 Abnormality of styloglossus muscle HP:3000016 An abnormality of the styloglossus muscle. https://orcid.org/0000-0001-5889-4463 An abnormality of a temporalis muscle. 2015-02-26T03:59:01Z UMLS:C4073226 human_phenotype HP:3000017 Abnormality of temporalis muscle HP:3000017 An abnormality of a zygomaticus major muscle. 2015-02-26T03:59:07Z UMLS:C4073227 human_phenotype HP:3000018 Abnormality of zygomaticus major muscle HP:3000018 An abnormality of a buccal mucosa. 2015-08-07T00:13:17Z UMLS:C4073228 Abnormality of buccal mucosa Abnormality of cheek mucosa Abnormality of inside lining of cheek human_phenotype HP:3000019 Abnormal buccal mucosa morphology HP:3000019 Abnormality of cheek mucosa https://orcid.org/0000-0001-5889-4463 Abnormality of inside lining of cheek https://orcid.org/0000-0001-5889-4463 An abnormality of a zygomaticus minor muscle. 2015-08-07T00:15:45Z UMLS:C4073229 human_phenotype HP:3000020 Abnormality of zygomaticus minor muscle HP:3000020 An abnormality of a buccal fat pad. 2015-08-07T00:15:49Z UMLS:C4073230 Abnormality of buccal fat pad human_phenotype HP:3000021 Abnormal buccal fat pad morphology HP:3000021 An abnormality of a cartilage of external ear. 2015-08-07T00:15:54Z UMLS:C4073231 Abnormality of cartilage of external ear human_phenotype HP:3000022 Abnormal external ear cartilage morphology HP:3000022 An abnormality of the angular artery, the terminal branch of the facial artery. 2015-08-07T00:15:58Z UMLS:C4073232 human_phenotype HP:3000023 Abnormality of angular artery HP:3000023 An abnormality of the angular artery, the terminal branch of the facial artery. https://orcid.org/0000-0001-5889-4463 Any structural abnormality of a facial artery, one of the branches of the external carotid artery. 2015-08-07T00:16:03Z UMLS:C4073233 Abnormality of facial artery human_phenotype HP:3000024 Abnormal facial artery morphology HP:3000024 Any structural abnormality of a facial artery, one of the branches of the external carotid artery. https://orcid.org/0000-0001-5889-4463 An abnormality of a ciliary ganglion. 2015-08-07T00:16:07Z UMLS:C4073234 human_phenotype HP:3000025 Abnormality of ciliary ganglion HP:3000025 HP:0430021 human_phenotype HP:3000026 obsolete Abnormality of common carotid artery plus branches true HP:3000026 An abnormality of a buccinator muscle. 2015-08-07T00:16:16Z UMLS:C4073236 human_phenotype HP:3000027 Abnormality of buccinator muscle HP:3000027 An abnormality of a depressor anguli oris muscle. 2015-08-07T00:16:20Z UMLS:C4073237 human_phenotype HP:3000028 Abnormality of depressor anguli oris muscle HP:3000028 An abnormality of a depressor labii inferioris. 2015-08-07T00:16:25Z UMLS:C4073238 Abnormality of depressor labii inferioris muscle human_phenotype HP:3000029 Abnormality of depressor labii inferioris HP:3000029 An abnormality of an orbit of skull. 2015-08-07T00:27:07Z UMLS:C4073239 Abnormality of bones of the orbit of the skull Abnormality of bony orbit of skull Abnormality of the bony eye socket Abnormality of the orbital bones of skull human_phenotype HP:3000030 Abnormal morphology of bony orbit of skull HP:3000030 Abnormality of bones of the orbit of the skull https://orcid.org/0000-0001-5889-4463 Abnormality of the bony eye socket https://orcid.org/0000-0001-5889-4463 Abnormality of the orbital bones of skull https://orcid.org/0000-0001-5889-4463 An abnormality of an anterior ethmoidal artery. 2015-08-07T00:27:12Z UMLS:C4073287 human_phenotype HP:3000031 Abnormality of anterior ethmoidal artery HP:3000031 An abnormality of a central retinal artery. 2015-08-07T00:27:17Z UMLS:C4073240 human_phenotype HP:3000032 The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye. Abnormality of central retinal artery HP:3000032 Any abnormality of nasopharyngeal adenoids. 2015-08-07T00:27:21Z UMLS:C4073241 Abnormality of adenoids Abnormality of nasopharyngeal adenoids Abnormality of nasopharyngeal tonsil Abnormality of pharyngeal tonsil human_phenotype HP:3000033 The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. Abnormal nasopharyngeal adenoid morphology HP:3000033 Abnormality of adenoids https://orcid.org/0000-0001-5889-4463 Abnormality of nasopharyngeal tonsil https://orcid.org/0000-0001-5889-4463 Abnormality of pharyngeal tonsil https://orcid.org/0000-0001-5889-4463 The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat. https://orcid.org/0000-0001-5889-4463 An abnormality of a cartilage of nasal septum. 2015-08-07T00:27:26Z UMLS:C4073242 Abnormality of cartilage of nasal septum Abnormality of cartilage of septum of nose Anomaly of cartilage of nasal septum Deformity of cartilage of nasal septum Malformation of cartilage of nasal septum human_phenotype HP:3000034 Abnormality nasal septum cartilage morphology HP:3000034 Abnormality of cartilage of nasal septum Abnormality of cartilage of septum of nose https://orcid.org/0000-0001-5889-4463 Anomaly of cartilage of nasal septum https://orcid.org/0000-0001-5889-4463 Deformity of cartilage of nasal septum https://orcid.org/0000-0001-5889-4463 Malformation of cartilage of nasal septum https://orcid.org/0000-0001-5889-4463 Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. 2015-08-07T00:35:58Z UMLS:C4073243 human_phenotype HP:3000035 Abnormality of cervical plexus HP:3000035 Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. https://orcid.org/0000-0001-5889-4463 An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. 2015-08-07T00:36:02Z UMLS:C4073244 Abnormality of blood vessel of head Abnormality of head blood vessel Abnormality of vasculature of head human_phenotype HP:3000036 Abnormal head blood vessel morphology HP:3000036 An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head. https://orcid.org/0000-0001-5889-4463 Abnormality of blood vessel of head Abnormality of head blood vessel An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. 2015-08-07T00:36:06Z UMLS:C4073245 Abnormality of blood vessel of neck Abnormality of neck blood vessel Abnormality of the cervical blood vessels Abnormality of the cervical vasculature Abnormality of the vasculature of the neck human_phenotype HP:3000037 Abnormal neck blood vessel morphology HP:3000037 An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. https://orcid.org/0000-0001-5889-4463 Abnormality of blood vessel of neck Abnormality of neck blood vessel Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. 2015-08-07T00:36:11Z UMLS:C4073246 Abnormality of cricoid cartilage human_phenotype HP:3000038 Abnormal cricoid cartilage morphology HP:3000038 An abnormality of a dorsal nasal artery. 2015-08-07T00:36:15Z UMLS:C4073247 human_phenotype HP:3000039 Abnormality of dorsal nasal artery HP:3000039 An abnormality of an ethmoid sinus. 2015-08-07T00:36:19Z UMLS:C4073248 Abnormality of ethmoidal air cells human_phenotype HP:3000040 Abnormality of ethmoid sinus HP:3000040 A structural abnormality of an external carotid artery. 2015-08-07T00:36:24Z UMLS:C4073249 human_phenotype HP:3000041 Abnormal external carotid artery morphology HP:3000041 Any structural abnormality of a jugular vein. 2015-08-07T01:04:39Z UMLS:C4073250 Abnormality of jugular vein human_phenotype HP:3000042 Abnormal jugular vein morphology HP:3000042 Abnormality of jugular vein An abnormality of a facial vein. 2015-08-07T01:04:44Z UMLS:C4073251 Abnormal vein of face Abnormality of facial vein human_phenotype HP:3000043 Abnormal facial vein morphology HP:3000043 Abnormal vein of face https://orcid.org/0000-0001-5208-3432 Abnormality of facial vein An abnormality of a frontal process of the maxilla bone. 2015-08-07T01:04:49Z UMLS:C4073252 human_phenotype HP:3000044 Abnormality of frontal process of maxilla HP:3000044 An abnormality of a frontal process of the maxilla bone. https://orcid.org/0000-0001-5889-4463 An abnormality of a genioglossus muscle. 2015-08-07T01:04:53Z UMLS:C4073253 human_phenotype HP:3000045 Abnormality of genioglossus muscle HP:3000045 An abnormality of a geniohyoid muscle. 2015-08-07T01:04:58Z UMLS:C4073254 human_phenotype HP:3000046 Abnormal geniohyoid muscle morphology HP:3000046 Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX). 2015-08-07T01:08:41Z UMLS:C4073255 Abnormality of glossopharyngeal nerve human_phenotype HP:3000047 The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx. Abnormal glossopharyngeal nerve morphology HP:3000047 Any structural anomaly of a great auricular nerve. 2015-08-07T01:08:45Z UMLS:C4073256 human_phenotype HP:3000048 The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part. Abnormal great auricular nerve morphology HP:3000048 Any structural anomaly of a great auricular nerve. PMID:26504711 An abnormality of a greater palatine artery. 2015-08-07T01:08:50Z UMLS:C4073257 Abnormality of greater palatine artery human_phenotype HP:3000049 The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum. Abnormal greater palatine artery morphology HP:3000049 An abnormality of an odontoid tissue. 2015-08-07T01:08:54Z UMLS:C4073258 Abnormality of hard tissues of teeth Abnormality of odontoid tissue Abnormality of tooth hard tissue human_phenotype HP:3000050 Abnormal odontoid tissue morphology HP:3000050 An abnormality of a hyoglossus muscle. 2015-08-07T01:08:58Z UMLS:C4073259 Abnormality of hyoglossus muscle human_phenotype HP:3000051 Abnormal hyoglossus muscle morphology HP:3000051 Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. 2015-08-07T01:09:03Z UMLS:C4073260 Abnormality of hyoid bone human_phenotype HP:3000052 Abnormal hyoid bone morphology HP:3000052 Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. PMID:30969548 A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. 2015-08-07T01:09:07Z UMLS:C4073261 Abnormality of hypopharynx Abnormality of lower pharynx human_phenotype HP:3000053 Abnormal hypopharynx morphology HP:3000053 A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus. https://orcid.org/0000-0002-0736-9199 Abnormality of hypopharynx Abnormality of lower pharynx https://orcid.org/0000-0001-5889-4463 An abnormality of an inferior alveolar artery. 2015-08-07T01:09:11Z UMLS:C4073262 human_phenotype HP:3000054 Abnormal inferior alveolar artery morphology HP:3000054 An abnormality of an inferior alveolar nerve. 2015-08-07T01:10:08Z UMLS:C4073263 human_phenotype HP:3000055 The inferior alveolar nerve is a branch of the mandibular nerve, which is itself the third branch of the trigeminal nerve. Abnormality of inferior alveolar nerve HP:3000055 An abnormality of an artery of lower lip. 2015-08-07T03:18:34Z UMLS:C4073264 Abnormality of the inferior labial artery human_phenotype HP:3000056 Abnormality of artery of lower lip HP:3000056 An abnormality of an inferior oblique extraocular muscle. 2015-08-07T03:18:39Z UMLS:C4073265 Abnormality of the inferior oblique muscle human_phenotype HP:3000057 Abnormality of inferior oblique extraocular muscle HP:3000057 An abnormality of an inferior rectus extraocular muscle. 2015-08-07T03:18:44Z UMLS:C4073266 human_phenotype HP:3000058 Abnormality of inferior rectus extraocular muscle HP:3000058 An abnormality of an inferior thyroid vein. 2015-08-07T03:18:48Z UMLS:C4073267 Abnormality of inferior thyroid vein human_phenotype HP:3000059 Abnormal inferior thyroid vein morphology HP:3000059 An abnormality of an infraorbital artery. 2015-08-07T03:18:53Z UMLS:C4073268 Abnormality of infraorbital artery human_phenotype HP:3000060 Abnormal infraorbital artery morphology HP:3000060 A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. 2015-08-07T03:18:57Z UMLS:C4073269 Abnormality of the infraorbital nerve human_phenotype HP:3000061 Abnormality of infra-orbital nerve HP:3000061 A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal. PMID:26564432 An abnormality of an internal carotid artery. 2015-08-07T03:19:02Z UMLS:C1860488 Abnormality of internal carotid artery human_phenotype HP:3000062 Abnormal internal carotid artery morphology HP:3000062 An abnormality of an internal jugular vein. 2015-08-07T03:19:06Z UMLS:C4073270 human_phenotype HP:3000063 Abnormality of internal jugular vein HP:3000063 An abnormality of an intrinsic muscle of tongue. 2015-08-07T03:19:10Z UMLS:C4073271 Abnormality of intrinsic lingual muscle human_phenotype HP:3000064 Abnormality of intrinsic muscle of tongue HP:3000064 Abnormality of intrinsic lingual muscle https://orcid.org/0000-0001-5889-4463 An abnormality of a lacrimal artery. 2015-08-07T03:38:25Z UMLS:C4073272 Abnormality of lacrimal artery human_phenotype HP:3000065 Abnormal lacrimal artery morphology HP:3000065 An abnormality of a lacrimal sac. 2015-08-07T03:38:31Z UMLS:C4073273 Abnormality of lacrimal sac human_phenotype HP:3000066 Abnormal lacrimal sac morphology HP:3000066 Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway. 2015-08-07T03:38:35Z UMLS:C4073274 Abnormal anterior cricoarytenoid muscle morphology Abnormality of lateral crico-arytenoid Abnormality of lateral cricoarytenoid muscle human_phenotype HP:3000067 Abnormal lateral cricoarytenoid muscle morphology HP:3000067 An abnormality of a lateral pterygoid muscle. 2015-08-07T03:38:40Z UMLS:C4073275 human_phenotype HP:3000068 Abnormality of lateral pterygoid muscle HP:3000068 An abnormality of a lateral rectus extra-ocular muscle. 2015-08-07T03:38:44Z UMLS:C4073276 human_phenotype HP:3000069 Abnormality of lateral rectus extra-ocular muscle HP:3000069 An abnormality of a levator anguli oris. 2015-08-07T03:38:48Z UMLS:C4073277 human_phenotype HP:3000070 Abnormality of levator anguli oris HP:3000070 An abnormality of a levator labii superioris. 2015-08-07T03:38:52Z UMLS:C4073278 human_phenotype HP:3000071 Abnormality of levator labii superioris HP:3000071 An abnormality of a levator palpebrae superioris. 2015-08-07T03:38:57Z UMLS:C4073279 human_phenotype HP:3000072 Abnormal levator palpebrae superioris morphology HP:3000072 An abnormality of a levator veli palatini. 2015-08-07T03:39:01Z UMLS:C4073280 human_phenotype HP:3000073 Abnormality of levator veli palatini muscle HP:3000073 Any structural abnormality of a lingual artery. 2015-08-07T03:39:06Z UMLS:C4073281 Abnormality of lingual artery human_phenotype HP:3000074 Abnormal lingual artery morphology HP:3000074 Any structural anomaly of a lingual nerve. 2015-08-07T03:39:10Z UMLS:C4073282 Abnormality of lingual nerve human_phenotype HP:3000075 The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion. Abnormal lingual nerve morphology HP:3000075 Any structural anomaly of a lingual nerve. PMID:27662622 An abnormality of a lingual tonsil. 2015-08-07T03:39:15Z UMLS:C4073283 human_phenotype HP:3000076 Abnormality of lingual tonsil HP:3000076 An abnormality of a mandible condylar process. 2015-08-07T03:39:19Z UMLS:C4073284 Abnormality of mandible condylar process human_phenotype HP:3000077 Abnormal mandible condylar process morphology HP:3000077 An abnormality of a mandible coronoid process. 2015-08-07T03:39:24Z UMLS:C4073285 Abnormality of mandible coronoid process human_phenotype HP:3000078 Abnormal mandible coronoid process morphology HP:3000078 A structural abnormality of a mandibular symphysis. 2015-08-07T03:39:28Z UMLS:C4073286 Abnormality of mandible symphysis human_phenotype HP:3000079 Abnormal mandibular symphysis morphology HP:3000079 Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately. 2021-04-24T14:23:59Z human_phenotype HP:4000001 Abnormal cardiac magnetic resonance imaging finding HP:4000001 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. 2021-04-24T14:32:56Z human_phenotype HP:4000003 Elevated myocardial native T2 HP:4000003 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema. PMID:18581348 Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. 2021-04-24T14:43:32Z Delayed myocardial gadolinium enhancement human_phenotype HP:4000004 LGE can be detected in post-infarct scars, inflammation, as well as non-ischemic CMP, cardiac neoplasm and storage diseases such as amyloidosis. Myocardial late gadolinium enhancement HP:4000004 Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. PMID:20704762 Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. 2021-04-24T14:54:03Z human_phenotype HP:4000005 Late gadolinium enhancement in the pericardium may be observed with pericardial inflammation. Pericardial late gadolinium enhancement HP:4000005 Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium. PMID:21969014 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. 2021-04-24T16:47:52Z Prolonged myocardial native T1 human_phenotype HP:4000006 Elevated myocardial native T1 HP:4000006 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity. PMID:24617686 Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. 2021-04-25T23:21:45Z HP:0025428 Bronchial constriction Bronchospasm Constriction of the bronchi human_phenotype HP:4000007 Occasionally in the medical literature, the word bronchospasm is interpreted to mean a more sudden narrowing than bronchoconstriction, but this usage is inconsistent and in everyday practice the terms are used as synonyms. We treat the terms as synonyms and recommend using HPO modifiers to denote acuteness or chronicity if needed. Bronchoconstriction HP:4000007 Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. PMID:26694039 PMID:30108224 PMID:31536291 Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. 2021-04-25T23:27:41Z human_phenotype HP:4000008 Three pro-nuclei (3PN) prevalence among all pregnancies has been estimated to be approximately 1% to 3%, whereas it accounts for 15% to 18% of cytogenetically abnormal cases among spontaneous abortions. Formation of multiple pronuclei during fertilization HP:4000008 Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. PMID:26550358 PMID:31704776 An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury. 2021-04-25T23:41:10Z human_phenotype HP:4000009 Kinesiophobia HP:4000009 Decreased renal tubular reabsorption of bicarbonate. 2021-04-29T17:27:57Z human_phenotype HP:4000010 Impaired renal tubular reabsorption of bicarbonate HP:4000010 Decreased renal tubular reabsorption of bicarbonate. PMID:31474092 https://orcid.org/0000-0002-2234-4248 A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. 2021-05-02T12:58:58Z human_phenotype HP:4000011 History of congenital HPV infection HP:4000011 A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn. PMID:20300545 2021-05-02T13:10:00Z human_phenotype HP:4000012 Necrotizing ileitis HP:4000012 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule. 2021-05-02T14:18:54Z human_phenotype HP:4000013 Anti-desmoglein-1 antibody positivity HP:4000013 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule. 2021-05-02T14:22:03Z human_phenotype HP:4000014 Anti-desmoglein-3 antibody positivity HP:4000014 The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. 2021-05-02T14:23:11Z human_phenotype HP:4000015 Anti-envoplakin antibody positivity HP:4000015 The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions. PMID:24275244 The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. 2021-05-02T14:25:13Z human_phenotype HP:4000016 Anti-periplakin antibody positivity HP:4000016 The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin. PMID:24275244 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1. 2021-05-02T14:26:23Z human_phenotype HP:4000017 Anti-desmoplakin I antibody positivity HP:4000017 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II. 2021-05-02T14:27:21Z human_phenotype HP:4000018 Anti-desmoplakin II antibody positivity HP:4000018 The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. 2021-05-02T14:28:23Z human_phenotype HP:4000019 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. Anti-BP230 antibody positivity HP:4000019 The presence of autoantibodies (immunoglobulins) in the serum that react against BP230. PMID:32048350 The presence of autoantibodies (immunoglobulins) in the serum that react against BP180. 2021-05-02T14:29:45Z human_phenotype HP:4000020 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen. Anti-BP180 antibody positivity HP:4000020 The presence of autoantibodies (immunoglobulins) in the serum that react against BP180. PMID:32048350 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. 2021-05-02T14:31:15Z Anti-laminin 5 antibody positivity human_phenotype HP:4000021 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. Anti-laminin 332 antibody positivity HP:4000021 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332. PMID:21725315 PMID:24154702 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6. 2021-05-02T14:31:25Z human_phenotype HP:4000022 Anti-laminin 6 antibody positivity HP:4000022 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. 2021-05-02T14:34:05Z human_phenotype HP:4000023 Anti-laminin gamma1 pemphigoid (ALG1P) is an autoimmune subepidermal bullous disease characterized by autoantibodies to a 200-kDa acidic noncollagenous glycoprotein of the lower lamina lucida. In contrast, anti-laminin-332 mucous membrane pemphigoid (MMP) is an autoimmune blistering disease characterized by autoantibodies to various subunits of laminin-332 of the basement membrane. Anti-laminin gamma1 antibody positivity HP:4000023 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1. PMID:24154702 The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane. 2021-05-02T14:38:29Z human_phenotype HP:4000024 Anti-laminin antibody positivity HP:4000024 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. 2021-05-02T14:41:03Z human_phenotype HP:4000025 Anti-integrin antibody positivity HP:4000025 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth. PMID:33483531 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6. 2021-05-02T14:46:46Z human_phenotype HP:4000026 Anti-transglutaminase 6 antibody HP:4000026 The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180. 2021-05-02T14:48:27Z human_phenotype HP:4000027 Bullous pemphigoid (BP) is an autoimmune blistering skin disease characterized by an autoimmune response to type XVII collagen (BP180). The generation of anti-BP180-NC16A IgG autoantibodies is considered to be central to the pathogenesis of BP, in part due to the close correlation between serum concentration and disease activity. However, about 60% of BP patients also generate IgG autoantibodies against LAD-1. Anti-LAD-1 antibody positivity HP:4000027 The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. 2021-05-02T14:52:23Z human_phenotype HP:4000028 Anti-LABD97 antibody positivity HP:4000028 The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion. PMID:11180014 The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. 2021-05-02T14:57:22Z AGA autoantibodies human_phenotype HP:4000029 Antigliadin antibody positivity HP:4000029 The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin. PMID:24052912 AGA autoantibodies The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. 2021-05-02T15:01:52Z human_phenotype HP:4000030 Anti-reticulin antibody positivity HP:4000030 The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin. PMID:23365209 The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. 2021-05-02T15:04:26Z human_phenotype HP:4000031 Anti-type VII collagen may be detected in bullous pemphigoid patients at time of relapse. Anti-type VII collagen antibody HP:4000031 The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII. PMID:29619029 A perception that one's body is moving or swaying despite lack of motion of the body. 2021-05-02T15:07:55Z human_phenotype HP:4000032 False perception of self-motion HP:4000032 A perception that one's body is moving or swaying despite lack of motion of the body. PMID:29443215 A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). 2021-05-02T15:11:06Z human_phenotype HP:4000033 This feature can be observed in mal de debarquement syndrome and in vestibular paroxysmia. Non-spinning vertigo HP:4000033 A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving). PMID:27083889 PMID:32986636 Decreased lymphocyte count during infections. 2021-05-02T15:19:12Z Infection-associated lymphocytopenia human_phenotype HP:4000034 Infection-associated lymphopenia HP:4000034 Decreased lymphocyte count during infections. PMID:32569607 Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. 2021-05-02T19:57:12Z human_phenotype HP:4000035 Primary obstructive megaureter HP:4000035 Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction. PMID:23533926 A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. 2021-05-02T20:07:50Z human_phenotype HP:4000036 Encysted hydrocele of the cord HP:4000036 A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it. PMID:32644551 Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. 2021-05-02T20:11:02Z human_phenotype HP:4000037 Congenital hydrocele HP:4000037 Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through. PMID:32644551 Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. 2021-05-02T20:11:45Z human_phenotype HP:4000038 Infantile hydrocele HP:4000038 Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation. PMID:32644551 A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. 2021-05-02T20:28:29Z Decreased MAIT cell frequency Reduced mucosal-associated invariant T cell proportion Reduced proportion of mucosal-associated invariant T cells human_phenotype HP:4000039 Flow cytometry may identify MAIT cells as CD3+Valpha7+CD161hi or Tet-MR1+CD161hi. Decreased mucosal-associated invariant T cell proportion HP:4000039 A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. PMID:32161190 Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following. 2021-05-02T20:36:09Z human_phenotype HP:4000040 Puerpural onset HP:4000040 Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. 2021-05-02T20:38:51Z human_phenotype HP:4000041 AA amyloidosis HP:4000041 Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. PMID:29261990 https://orcid.org/0000-0003-3411-9598 Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110). 2021-05-02T20:47:02Z human_phenotype HP:4000042 Fracture type HP:4000042 A type of fracture in which the broken bone is not completely separated. 2021-05-02T20:49:30Z Incomplete fracture human_phenotype HP:4000043 Greenstick fracture HP:4000043 A type of fracture in which the break is in a straight line across the bone. 2021-05-02T20:50:13Z human_phenotype HP:4000044 Transverse fracture HP:4000044 A type of fracture in which the break spirals around the bone. 2021-05-02T20:50:42Z human_phenotype HP:4000045 Spiral fracture HP:4000045 A type of fracture in which there is a diagonal break across the bone. 2021-05-02T20:51:13Z human_phenotype HP:4000046 Oblique fracture HP:4000046 A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance. 2021-05-02T20:51:49Z Wedge fracture human_phenotype HP:4000047 Compression fracture HP:4000047 A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site. 2021-05-02T20:52:20Z human_phenotype HP:4000048 Comminuted fracture HP:4000048 A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone. 2021-05-02T20:52:50Z human_phenotype HP:4000049 Segmental fracture HP:4000049 A type of fracture in which there is an open wound or break in the skin near the site of the broken bone. 2021-05-02T20:54:29Z Compound fracture human_phenotype HP:4000050 Open fracture HP:4000050 A type of fracture in which the broken bone that does not penetrate the skin. 2021-05-02T20:55:09Z human_phenotype HP:4000051 Closed fracture HP:4000051 A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma. 2021-05-02T20:56:24Z human_phenotype HP:4000052 Avulsion fracture HP:4000052 A type of fracture in which the ends of the fractured bone are no longer aligned. 2021-05-02T20:58:15Z human_phenotype HP:4000053 Displaced fracture HP:4000053 A widespread rash. 2021-05-02T21:41:36Z human_phenotype HP:4000054 An exanthem may be caused by an infection or represent a reaction to a toxin or an immune response and may be accompanied by symptoms such as fever, malaise and headache. Exanthem HP:4000054 A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. 2021-05-02T21:44:53Z human_phenotype HP:4000055 Intestinal inflammation HP:4000055 A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract. PMID:9897960 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. 2021-05-02T21:53:27Z human_phenotype HP:4000056 Abnormal apoptosis HP:4000056 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response. PMID:11420279 A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. 2021-05-02T21:55:09Z human_phenotype HP:4000057 Decreased FasL-mediated apoptosis HP:4000057 A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. PMID:29617412 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. 2021-05-02T22:02:41Z human_phenotype HP:4000058 In contrast to glomerular proteinuria, tubular proteinuria is generally less than 1-2 g/24 h. In tubular proteinuria, although albumin remains a significant component, there is a relatively much greater increase in proteins of smaller than 60 000 Da Glomerular proteinuria HP:4000058 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. PMID:19634399 A structural defect associated with abnormal development of the lung. 2021-06-09T12:13:11Z Developmental pulmonary anomaly human_phenotype HP:4000059 Abnormal lung development HP:4000059 2021-06-09T12:17:33Z human_phenotype HP:4000060 Abnormal pulmonary alveolar system development HP:4000060 A diffuse and specific increase in the number of alpha-cells. 2021-06-23T16:27:00Z human_phenotype HP:4000061 Alpha cells are glucagon-secreting endocrine cells in the pancreatic islets of the pancreas. Pancreatic alpha-cell hyperplasia HP:4000061 A diffuse and specific increase in the number of alpha-cells. PMID:24285676 A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). 2021-09-08T21:33:50Z Fused third and fourth metacarpals Middle and ring finger metacarpal synostosis Synostosis of third and the fourth metacarpal bones human_phenotype HP:4000062 Metacarpal synostosis is best described as a failure of differentiation causing a union between 2 adjacent metacarpals. 3-4 metacarpal synostosis HP:4000062 A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers). PMID:27698627 https://orcid.org/0000-0002-0736-9199 Hallucination during onset/falling asleep in any sensory modality, usually auditory, visual, or tactile. 2025-10-20T09:34:27Z human_phenotype HP:4000063 Sleep related hallucination HP:4000063 Subjectively or observationally reported sleep that is insufficiently restorative, disrupted, or of inadequate quality, regardless of duration. Poor sleep may involve difficulty maintaining sleep continuity, frequent awakenings, a sense of light or shallow sleep, or waking up feeling unrefreshed. It is typically identified through self-report or clinical interview and not by objective measurements. 2025-10-20T09:51:34Z Low-quality sleep Poor sleep quality Sleeping badly human_phenotype HP:4000064 Poor sleep HP:4000064 Any structural anomaly of the iliac artery. 2021-11-24T01:28:09Z human_phenotype HP:4000066 The common iliac artery originates from the aorta and divides into the internal and external iliac arteries, supplying oxygenated blood to the lower extremities (via the external iliac artery), the pelvis and its viscera (via internal iliac artery) as well as the peritoneum, psoas major muscle, ureter, and surrounding tissues. Abnormal iliac artery morphology HP:4000066 Abnormal outpouching or sac-like dilatation in the iliac artery. 2021-11-24T01:34:01Z human_phenotype HP:4000067 Iliac artery aneurysm HP:4000067 Abnormal outpouching or sac-like dilatation in the iliac artery. PMID:9685125 Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. 2022-02-09T16:57:31Z human_phenotype HP:4000068 Abnormal interest HP:4000068 Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something. https://orcid.org/0000-0002-4422-1708 A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car. 2022-02-09T16:57:31Z Fixated interest in unusual objects Fixated interest with parts of objects Fixation with parts of objects human_phenotype HP:4000069 Persistent preoccupation with parts of objects HP:4000069 Fixated interest in unusual objects https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Fixated interest with parts of objects https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Fixation with parts of objects https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests). 2022-02-09T16:57:31Z Circumscribed interests Restricted interests human_phenotype HP:4000070 Fixated interests HP:4000070 Circumscribed interests https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Restricted interests https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 The presence of any atypical form of expressive language. 2022-03-02T16:12:30Z human_phenotype HP:4000072 Abnormal language feature HP:4000072 Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'. 2022-03-02T16:13:45Z human_phenotype HP:4000073 These errors are attested in normal toddlers' spontaneous speech, albeit at varying rates; pronouns typically emerge around 1.5 years of age and reversals are most common before 2.5 years. A higher rate of pronoun reversal may be expected of people with autism spectrum disorder. Pronoun reversal HP:4000073 Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate. 2022-03-02T16:17:03Z human_phenotype HP:4000074 Involuntary vocalization HP:4000074 Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate. PMID:31651053 The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context. 2022-03-02T16:22:09Z human_phenotype HP:4000075 Reduced frequency of facial expressions HP:4000075 The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context. PMID:26803417 Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something. 2022-03-02T16:24:26Z Hand-leading gesture Hand-taking gestures human_phenotype HP:4000076 Use of another person's body to communicate HP:4000076 Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something. PMID:25388062 Hand-leading gesture https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Hand-taking gestures https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners. 2022-03-02T16:27:05Z Unusual preoccupations human_phenotype HP:4000077 Fixated interest with abnormal focus HP:4000077 An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person. 2022-03-02T16:37:04Z human_phenotype HP:4000078 Typical examples of fixated interests with abnormal intensity include flipping the flag on a mailbox up and down repeatedly for long periods of time, taking a fork or other such objects everywhere, repeatedly lining up toys in the same order, or repeatedly reading information about a favorite topic such as a sports team. Fixated interest with abnormal intensity HP:4000078 An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person. PMID:23880382 Unusual interest in sensory aspects of the environment. 2022-03-02T16:43:23Z human_phenotype HP:4000079 Sensory seeking HP:4000079 Unusual interest in sensory aspects of the environment. PMID:29112858 HP:5200027 2022-03-02T12:34:16Z human_phenotype HP:4000080 obsolete 4000080 true HP:4000080 Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes. 2022-03-02T16:49:23Z human_phenotype HP:4000081 Reduced production of gestures HP:4000081 Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes. PMID:21182208 Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5. 2022-03-02T16:54:46Z Reduced collaborative play human_phenotype HP:4000082 Reduced cooperative play HP:4000082 Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5. PMID:10817421 Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age. 2022-03-02T16:55:59Z Ignores peers Reduced desire to interact with peers Reduced interest in other children human_phenotype HP:4000083 Lack of interest in peers HP:4000083 Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age. PMID:34169757 An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction. 2022-03-02T16:57:29Z human_phenotype HP:4000084 Interest sharing should be assessed in the context of cultural and developmental norms. Reduced sharing of interests HP:4000084 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. 2022-03-02T16:59:59Z human_phenotype HP:4000085 This term should not be applied to children younger than one year of life. Reduced object sharing HP:4000085 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play. PMID:26803417 Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality. 2022-08-18T12:34:20Z Abnormal facial expression use human_phenotype HP:4000087 This term describes the way facial expressions are used for communicating to other people (social communication). This term does not comprise abnormal facial expressions related to motoric neurological deficits such as hypomimic facies observed in individuals with Parkinson syndrome. Abnormal communicative facial expressions HP:4000087 Abnormal facial expression use https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Production of facial expressions that are misaligned with the social context. 2022-08-18T12:41:20Z human_phenotype HP:4000088 Facial expressions that do not match the context HP:4000088 Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted. 2022-08-18T12:41:42Z Atypical facial expressions human_phenotype HP:4000089 This feature does not include facial motor tics. Abnormal quality of facial expression HP:4000089 Atypical facial expressions https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication. 2022-08-18T13:17:50Z Abnormal communicative gesture use Abnormal communicative gestures Abnormal gestures human_phenotype HP:4000090 Gestures refer to movements of the arms, hand, shoulders, or head and do not include facial expressions. Abnormal gesture use HP:4000090 Abnormal communicative gesture use https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Abnormal communicative gestures https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Abnormal gestures https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level. 2022-08-29T13:04:27Z Failure of normal back-and-forth conversation human_phenotype HP:4000092 Poor conversational reciprocity may be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable. Poor conversational reciprocity HP:4000092 Failure of normal back-and-forth conversation https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-2592-4715 https://orcid.org/0000-0002-9593-5508 https://orcid.org/0000-0003-3777-1389 A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth. 2023-01-16T07:30:03Z human_phenotype HP:4000093 Ectopic tooth eruption HP:4000093 A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth. PMID:22114445 A developmental anomaly characterized by undergrowth of the corpus cavernosum. 2023-01-16T07:43:02Z human_phenotype HP:4000094 Corpus cavernosum hypoplasia HP:4000094 A developmental anomaly characterized by undergrowth of the corpus cavernosum. PMID:21220346 Concentration of the nucleobase thymine in the blood circulation above the normal range. 2023-01-16T07:48:07Z human_phenotype HP:4000095 Elevated circulating thymine concentration HP:4000095 Concentration of the nucleobase thymine in the blood circulation above the normal range. PMID:33916495 Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas. 2023-01-16T09:09:11Z human_phenotype HP:4000100 The enzyme lactase phlorizin hydrolase, located at the intestinal brush border, is necessary for the hydrolysis of lactose, the main sugar in milk. Due to the genetically programmed decrease in intestinal lactase activity that occurs post-weaning (lactase non-persistence), a large proportion of the human population loses, in adult age, the possibility to digest and absorb lactose. Positive lactose hydrogen breath test HP:4000100 Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas. PMID:18985811 Applies to a sign or symptom that is provoked or brought about by administration of a medication. 2023-01-16T09:10:52Z HP:0034826 Triggered by medication exposure human_phenotype HP:4000101 Triggered by exposure to medication HP:4000101 Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol. 2023-01-16T09:11:45Z Allopurinol exposure human_phenotype HP:4000102 Triggered by allopurinol HP:4000102 Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation. 2023-01-16T09:12:44Z Zinc oral supplementation produces improvement human_phenotype HP:4000103 Ameliorated by oral zinc supplementation HP:4000103 A root of a tooth that is more rounded than normal. 2023-01-16T09:27:52Z Dental roots curved human_phenotype HP:4000104 Curved dental root HP:4000104 The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging. 2023-01-16T17:36:32Z Abnormal four chamber view human_phenotype HP:4000105 Abnormal four chamber view of the fetal heart HP:4000105 The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging. PMID:7932993 A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen. 2023-01-16T17:40:36Z human_phenotype HP:4000106 Spleen hamartoma HP:4000106 Deposits of immunoglobulins and complement components along the dermoepidermal junction. 2023-01-16T17:42:59Z Lupus band test positive human_phenotype HP:4000107 Positive lupus band test HP:4000107 Deposits of immunoglobulins and complement components along the dermoepidermal junction. PMID:21339940 Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow. 2023-01-16T17:51:42Z Bone marrow: erythroid vacuolization human_phenotype HP:4000108 See Figure 1 of PMID:29716882. Bone marrow erythroid vacuolization HP:4000108 Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow. PMID:29716882 Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field. 2023-01-17T08:44:37Z Electromagnetic field triggers symptoms human_phenotype HP:4000109 Triggered by electromagnetic field HP:4000109 Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home. 2023-01-17T08:46:14Z human_phenotype HP:4000110 Exposure history HP:4000110 History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation. 2023-01-17T08:48:25Z human_phenotype HP:4000111 Mesothelioma is an occupational disease occurring as a result of asbestos exposure in the workplace. Asbestos exposure HP:4000111 History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation. PMID:28706902 Information about current or past medications taken by an individual. 2023-01-17T09:25:01Z human_phenotype HP:4000112 Medication history HP:4000112 Information about current or past medications taken by an individual. PMID:16129874 History of having taken aminoglycoside antibiotics. 2023-01-17T09:26:54Z human_phenotype HP:4000113 Aminoglycosides include gentamycin, tobramycin, amikacin, kanamycin, and streptomycin, and may be associated with ototoxicity. Aminoglycoside exposure HP:4000113 History of having taken statins, also known as HMG-CoA reductase inhibitors. 2023-01-17T09:28:37Z human_phenotype HP:4000114 HMG-CoA reductase inhibitors, or statins, are widely used for hyperlipidemia and cardiovascular disease. Statin exposure HP:4000114 History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene. 2023-01-17T09:31:24Z human_phenotype HP:4000115 Potassium-sparing diuretic exposure HP:4000115 History of having taken carbamazepine. 2023-01-17T09:32:24Z human_phenotype HP:4000116 Carbamazepine exposure HP:4000116 History of having taken valproate (valproic acid). 2023-01-17T09:33:10Z human_phenotype HP:4000117 Valproate exposure HP:4000117 History of having taken hydralazine. 2023-01-17T09:34:05Z human_phenotype HP:4000118 Hydralazine exposure HP:4000118 History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem. 2023-01-17T09:34:55Z Calcium channel blocking drug use human_phenotype HP:4000119 Calcium channel blocker exposure HP:4000119 2023-01-18T07:19:42Z Contact with nickel human_phenotype HP:4000120 Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to nickel. Triggered by nickel HP:4000120 Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis. 2023-01-18T07:23:05Z Contact with poison ivy, poison oak, or sumac human_phenotype HP:4000121 Triggered by poison ivy, poson oak, or sumac HP:4000121 A past medical history of having been fed exclusively by breast feeding. 2023-01-18T07:27:25Z Breast feeding, exclusive human_phenotype HP:4000122 History of exclusive breast feeding HP:4000122 A part of the past medical history consisting of information about the typical food intake of an individual. 2023-01-18T07:37:16Z human_phenotype HP:4000123 Nutrition history HP:4000123 A part of the past medical history consisting of information about the typical food intake of an individual. PMID:10193594 A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb. 2023-01-18T07:39:57Z Foods high in oxalate, high intake human_phenotype HP:4000124 An increased load of dietary oxalate presented to the kidneys has been linked to different kidney-related conditions and injuries. High dietary oxalate intake HP:4000124 A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb. PMID:32887293 A history of ingestion of honey in recent weeks. 2023-01-18T07:43:55Z Honey ingestion in recent weeks human_phenotype HP:4000125 Recent honey ingestion HP:4000125 A history of eating raw egg whites. 2023-01-18T07:45:03Z human_phenotype HP:4000126 Raw egg-white ingestion HP:4000126 Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide. 2023-01-18T07:46:52Z Sodium channel blocking drugs aggravate findings human_phenotype HP:4000127 Exacerbated by sodium channel blocking agent exposure HP:4000127 Addiction to inhaled nitrous oxide gas (N2O) is a growing concern. 2023-01-18T07:48:18Z Nitrous oxide abuse Nitrous oxide addiction human_phenotype HP:4000128 Addictive nitrous oxide use HP:4000128 A past medical history of a recent blood transfusion. 2023-01-18T07:50:58Z Blood transfusion, recent human_phenotype HP:4000129 Recent blood transfusion HP:4000129 Applies to a sign or symptom that is improved or made more bearable by administration of colchizine. 2023-01-18T07:54:01Z Colchicine ameliorates symptoms human_phenotype HP:4000130 Ameliorated by colchicine HP:4000130 Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D. 2023-01-18T07:55:18Z Vitamin D reduces manifestations human_phenotype HP:4000131 Ameliorated by vitamin D HP:4000131 Applied to a sign or symptom that is worsened by administration of phenytoin. 2023-01-18T07:56:19Z Phenytoin produces worsening human_phenotype HP:4000132 Exacerbated by phenytoin exposure HP:4000132 Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril. 2023-01-18T07:57:47Z ACE inhibitors trigger attacks human_phenotype HP:4000133 Triggered by angiotensin-converting enzyme inhibitor HP:4000133 History of having been treateed with prostaglandin E1. 2023-01-18T08:00:25Z human_phenotype HP:4000134 Prostaglandin E1 exposure HP:4000134 History of having been treateed with prostaglandin E1. PMID:31536236 History of having been treated with 5-fluorouracil. 2023-01-18T08:02:17Z human_phenotype HP:4000135 5-fluorouracil exposure HP:4000135 History of having been treateed with 6-mercaptopurine. 2023-01-18T08:03:10Z human_phenotype HP:4000136 6-mercaptopurine exposure HP:4000136 History of having been treateed with isoniazid. 2023-01-18T08:04:02Z human_phenotype HP:4000137 Isoniazid exposure HP:4000137 The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visibility of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding. 2023-01-18T19:01:30Z human_phenotype HP:4000138 Absent cavum septum pellucidum HP:4000138 The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visibility of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding. PMID:26123886 Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally. 2023-01-19T07:02:08Z Fetal cystic abdominal mass Foetal abdominal cyst Foetal cystic abdominal mass human_phenotype HP:4000139 Fetal ultrasound cannot always distinguish the origin of a cystic lesion in the abdominal region. Fetal abdominal cyst HP:4000139 Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally. PMID:12780436 PMID:30763268 PMID:34189111 Foetal abdominal cyst Foetal cystic abdominal mass Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation. 2023-01-19T07:12:40Z Foetal bowel dilatation Prenatal ultrasound: bowel loops dilated human_phenotype HP:4000140 Fetal bowel dilatation HP:4000140 Foetal bowel dilatation Enlargement of the chamber of the left heart ventricle. 2023-01-19T07:23:27Z Dilated left heart ventricle human_phenotype HP:4000141 Left ventricular dilatation HP:4000141 A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry. 2023-01-19T07:27:53Z Foetal trigonocephaly Strawberry sign Strawberry skull Strawberry-shaped skull human_phenotype HP:4000142 Fetal trigonocephaly can be seen in trisomy 18 (or other chromosomal abnormalities) and monogenic syndromes, particularly also in craniosynostosis syndromes and some skeletal dysplasias. Fetal trigonocephaly HP:4000142 A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry. PMID:25250065 PMID:26498670 PMID:30363185 Foetal trigonocephaly A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited. 2023-01-19T07:38:07Z human_phenotype HP:4000143 The left ventricular outflow tract is the anatomic structure through which the left ventricular stroke volume passes towards the aorta. The right ventricular outflow tract is the structure through which the right ventricular stroke volume passes to the pulmonary artery. Abnormal fetal heart outflow tract HP:4000143 History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition. 2023-01-22T11:26:04Z human_phenotype HP:4000144 Recent past medical history HP:4000144 Medical history of a viral illness in recent weeks. 2023-01-22T11:27:58Z Antecedent viral illness human_phenotype HP:4000145 History of recent viral illness HP:4000145 Medical history of a dental procedure in recent weeks. 2023-01-22T12:02:34Z human_phenotype HP:4000146 History of recent dental procedure HP:4000146 Any structural anomaly of the hepatic artery or its branches. 2023-01-22T12:05:38Z human_phenotype HP:4000147 Abnormal hepatic artery morphology HP:4000147 Abnormal increase in size of the hepatic arteries. 2023-01-22T12:07:40Z human_phenotype HP:4000148 Hepatic artery hyperplasia HP:4000148 Areas of necrotic tissue within a lymph node. 2023-01-22T12:20:59Z Necrosis in lymph node human_phenotype HP:4000149 Lymph node necrosis HP:4000149 Areas of necrotic tissue within a lymph node. PMID:3317224 Neurons that contain more than one nucleus. 2023-01-22T12:27:43Z human_phenotype HP:4000150 Multinucleated neuron HP:4000150 A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint. 2023-01-25T10:09:12Z human_phenotype HP:4000151 History of recent contralateral injury HP:4000151 Occurring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras). 2023-01-25T10:17:39Z Alternating sides of the body human_phenotype HP:4000152 Alternating laterality HP:4000152 A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection. 2023-01-25T10:25:55Z Cervix squamous papilloma human_phenotype HP:4000153 Cervical squamous cell papilloma HP:4000153 A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection. PMID:32809572 A benign smooth muscle neoplasm that arises in the liver. 2023-01-25T10:31:34Z Hepatic leiomyoma human_phenotype HP:4000154 Liver leiomyoma HP:4000154 A benign smooth muscle neoplasm that arises in the liver. PMID:33139985 Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan. 2023-01-26T17:14:28Z human_phenotype HP:4000158 Typified by high penetrance HP:4000158 Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan. 2023-01-26T17:18:16Z human_phenotype HP:4000159 Typified by moderate penetrance HP:4000159 Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan. 2023-01-26T17:19:09Z human_phenotype HP:4000160 Typified by low penetrance HP:4000160 Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase. 2023-02-17T21:00:45Z SCOT activity low in fibroblasts human_phenotype HP:4000162 Succinyl-CoA: 3-ketoacid CoA transferase (SCOT; EC 2.8.3.5, gene symbol OXCT1) is a mitochondrial homodimer essential for ketone body utilization. Decreased Succinyl-CoA 3-ketoacid CoA transferase activity HP:4000162 Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase. PMID:21296660 SCOT activity low in fibroblasts Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. 2023-02-17T21:07:33Z Decreased phytanoyl-CoA hydroxylase activity PhyH activity low in fibroblasts human_phenotype HP:4000163 Reduced phytanic acid oxidase activity in cultured fibroblasts HP:4000163 Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet. PMID:10767344 PMID:2433405 Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids. 2023-02-17T21:09:29Z Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity human_phenotype HP:4000164 Reduced bifunctional protein activity HP:4000164 Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids. PMID:32904102 Reduced plasmalogen concentration in the blood circulation. 2023-02-17T21:35:55Z Reduced circulating plasmalogen concentration human_phenotype HP:4000165 Plasmalogens are a class of membrane glycerophospholipids that contain a vinyl-ether linked alkyl chain at the sn-1 position of the glycerol backbone and, typically, a polyunsaturated fatty acyl chain at the sn-2 position. Decreased circulating plasmalogen concentration HP:4000165 Reduced plasmalogen concentration in the blood circulation. PMID:30974122 Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise. 2023-02-17T21:40:59Z Varicella zoster virus infection after vaccination human_phenotype HP:4000166 Post-vaccination varicella zoster virus infection HP:4000166 Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise. PMID:31527188 History of having been treated with corticosteroid medications in recent weeks. 2023-02-17T22:08:45Z History of recent steroid use human_phenotype HP:4000167 Recent steroid exposure HP:4000167 Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years. 2023-02-17T22:12:00Z Cauliflower teeth Double-parked teeth Teeth: double row human_phenotype HP:4000168 Shark teeth HP:4000168 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons. 2023-02-17T22:18:17Z human_phenotype HP:4000169 Pontine T2 hypointensity HP:4000169 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons. PMID:23497566 The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa. 2023-02-17T22:32:33Z Antiplatelet antibodies present human_phenotype HP:4000170 Anti-platelet antigen antibody positivity HP:4000170 The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel. 2023-02-17T22:35:59Z Voltage gated potassium channel antibodies in blood human_phenotype HP:4000171 Voltage-gated potassium channels represent a family of transmembrane channels responsible for returning the depolarized cell to a resting state after each nerve impulse. Anti-voltage-gated potassium channel antibody positivity HP:4000171 The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel. PMID:20816272 A history of following a vegan diet characterized by avoidance of food sourced from animals including meat, fish, and dairy products. 2023-02-17T23:02:53Z human_phenotype HP:4000172 Vegan diet HP:4000172 One or more previous pregnancies in which the fetus developed hydrops fetalis. 2023-02-17T23:04:51Z History of hydrops fetalis in newborn offspring human_phenotype HP:4000173 History of previous pregnancy with hydrops fetalis HP:4000173 Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement. 2023-02-19T16:19:21Z Potassium supplements alleviate attacks human_phenotype HP:4000174 Ameliorated by potassium supplements HP:4000174 Applies to a sign or symptom that is improved or made more bearable by ingesting niacin (vitamin B3). 2023-02-19T16:20:58Z Ameliorated by vitamin B3 Niacin reverses symptoms human_phenotype HP:4000175 Ameliorated by niacin HP:4000175 Applied to a sign or symptom that is worsened by treatment with a medication. 2023-02-19T16:22:53Z human_phenotype HP:4000176 Aggravated by exposure to medication HP:4000176 Applies to bleeding that is significantly reduced by treatment with vitamin K. 2023-02-19T16:25:49Z Vitamin K treatment reduces bleeding significantly human_phenotype HP:4000177 Bleeding ameliorated by vitamin K HP:4000177 History of having been treated with an antiretroviral agent. 2023-02-19T16:28:42Z human_phenotype HP:4000178 Anti-retroviral therapy exposure HP:4000178 History of having been treated with an antiretroviral agent. PMID:36454551 History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics. 2023-02-19T16:30:55Z human_phenotype HP:4000179 Potassium-wasting diuretic exposure HP:4000179 History of having been treated with a tricyclic antidepressant medication. 2023-02-19T16:33:59Z Tricyclic antidepressant use human_phenotype HP:4000180 Tricyclic antidepressant exposure HP:4000180 A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age. 2023-02-19T16:40:36Z Excessive tooth attrition Excessive wear and tear on teeth human_phenotype HP:4000181 Excessive dental attrition HP:4000181 Excessive wear and tear on teeth Pain improves or worsens with changes in body position. 2023-02-19T16:44:38Z Positional nature to pain human_phenotype HP:4000182 Positionally dependent pain HP:4000182 Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range. 2023-05-05T02:19:21Z human_phenotype HP:4000183 Abnormal erythrocyte adenosine triphosphate concentration HP:4000183 Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal. 2023-05-05T02:20:54Z human_phenotype HP:4000184 Reduced erythrocyte adenosine triphosphate concentration HP:4000184 Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal. 2023-05-05T04:39:34Z Adenosine triphosphate (ATP) high in erythrocytes human_phenotype HP:4000186 Elevated erythrocyte adenosine triphosphate concentration HP:4000186 A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids. 2023-08-31T12:06:09Z Spermatogonial arrest human_phenotype HP:4000187 Spermatogonial maturation arrest HP:4000187 Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation. 2023-09-17T13:48:24Z Neuron-specific enolase high in blood human_phenotype HP:4000189 Neuron-specific enolase (NSE) is an important tumor marker in the serum of patients with lung cancer. Elevated serum NSE levels are also associated with neuroblastoma, neuroendocrine neoplasms, renal cell carcinoma, multiple myeloma, brain trauma, Guillain-Barre syndrome, and other diseases. Elevated circulating neuron-specific enolase concentration HP:4000189 Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation. PMID:30779465 Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal. 2023-09-17T13:58:59Z human_phenotype HP:4000190 Reduced leukocyte alpha-mannosidase activity HP:4000190 Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation. 2023-09-17T14:01:33Z human_phenotype HP:4000191 Increased circulating alpha-mannosidase activity HP:4000191 Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts. 2023-09-17T14:05:42Z human_phenotype HP:4000192 Reduced leukocyte cathepsin D activity HP:4000192 Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal. 2023-09-17T14:21:50Z Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity human_phenotype HP:4000193 Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity HP:4000193 Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample. 2023-09-17T14:26:14Z human_phenotype HP:4000194 Pseudohyperkalemia is an elevation of potassium in the serum that results during collection, storage, or handling of a blood sample, and is not representative of the potassium level in vivo. Pseudohyperkalemia can result from increased tourniquet tension, increased pressure from a patient's fist being clenched, or mechanical lysis of hematocytes during pneumatic tube delivery of samples to the laboratory or the centrifugation process. This term is meant to refer to habitually artefactually high plasma potassium levels owing to a temperature-dependentred cell leak as seen in Cryohydrocytosis. Pseudohyperkalemia HP:4000194 Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample. PMID:11167849 PMID:32953312 Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts. 2023-09-17T14:31:02Z human_phenotype HP:4000195 Abnormal enzyme activity in cultured fibroblasts HP:4000195 Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T14:35:01Z human_phenotype HP:4000196 Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts HP:4000196 Concentration or activity of N-acetylgalactosamine-6-sulfatase as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T14:40:04Z Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts human_phenotype HP:4000197 N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4) catalyzes the cleavage of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of the macromolecule chondroitin sulfate and of the D-galactose 6-sulfate units of the macromolecule keratan sulfate. Reduced N-acetylgalactosamine-6-sulfatase in cultured fibroblasts HP:4000197 Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate. 2023-09-17T15:02:26Z Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts human_phenotype HP:4000198 Reduced acetylglucosamine-6-sulfatase activity in cultured fibroblasts HP:4000198 Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal. 2023-09-17T15:06:27Z human_phenotype HP:4000199 Reduced erythrocyte porphobilinogen deaminase activity HP:4000199 Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T15:11:24Z human_phenotype HP:4000200 Reduced holocarboxylase synthetase activity in cultured fibroblasts HP:4000200 Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation. 2023-09-17T15:16:34Z human_phenotype HP:4000201 Abnormal circulating alpha mannosidase activity HP:4000201 Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) is below the limits of normal. The activity can be measured in multiple tissues including cultured fibroblasts. 2023-09-17T15:29:26Z human_phenotype HP:4000202 Reduced tissue alpha-N-acetylgalactosaminidase activity HP:4000202 Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. 2023-09-17T15:31:59Z human_phenotype HP:4000203 Reduced erythrocyte arginase activity HP:4000203 Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal. 2023-09-17T21:49:52Z human_phenotype HP:4000204 Mitochondrial acetyl-CoA acetyltransferase is a short-chain-length-specific thiolase that is encoded by the ACAT1 gene. Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts HP:4000204 Concentration or activity of beta-mannosidase (EC 3.2.1.25) below the lower limit of normal. Beta-mannosidas enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2023-09-17T21:53:16Z Reduced beta-mannosidase activity in cultured fibroblasts human_phenotype HP:4000205 Beta-mannosidase is a lysosomal enzyme that catalyzes the final exoglycosidase step in the degradation pathway for N-linked oligosaccharide moieties of glycoproteins. Reduced tissue beta-mannosidase activity HP:4000205 Activity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts. 2023-09-17T21:56:23Z 3-methylcrotonyl CoA carboxylase low in fibroblasts human_phenotype HP:4000206 Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts HP:4000206 Activity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts. 2023-09-17T21:59:46Z human_phenotype HP:4000207 Branched-chain alpha-keto acid dehydrogenase complex is an inner-mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of the branched-chain alpha-ketoacids derived from isoleucine, leucine, and valine. Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts HP:4000207 Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal. 2023-09-17T22:04:45Z human_phenotype HP:4000208 Galactose-1-phosphate uridylyltransferase is the second enzyme in the galactose metabolic pathway. Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity HP:4000208 Activity of adenosine deaminase in red blood cells outside the limits of normal. 2023-09-17T22:06:20Z human_phenotype HP:4000209 Abnormal erythrocyte adenosine deaminase activity HP:4000209 Activity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts. 2023-09-17T22:14:48Z human_phenotype HP:4000210 Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts HP:4000210 Activity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts. 2023-09-17T22:17:38Z human_phenotype HP:4000211 Reduced glycerol kinase activity in cultured fibroblasts HP:4000211 Concentration of vitamin A above the upper limit of normal in the blood circulation. 2023-09-17T22:35:26Z Vitamin A high in blood human_phenotype HP:4000212 Increased circulating vitamin A concentration HP:4000212 Concentration of hyaluronic acid in the blood circulation above the upper limit of normal. 2023-09-17T22:37:49Z Hyaluronic acid high in blood human_phenotype HP:4000213 Elevated circulating hyaluronic acid concentration HP:4000213 A reduction in the intensity of the breath sound as ascertained by auscultation of the lung. 2023-10-28T10:06:14Z Decreased breath sounds human_phenotype HP:4000214 Diminished breath sounds HP:4000214 A reduction in the intensity of the breath sound as ascertained by auscultation of the lung. PMID:26229557 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). 2021-06-13T12:02:48Z human_phenotype HP:5000000 Anti-AK5 antibody positivity HP:5000000 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5). PMID:28062719 PMID:33843981 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). 2021-06-13T12:02:48Z Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody human_phenotype HP:5000001 Anti-AMPAR antibody positivity HP:5000001 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR). PMID:25979696 PMID:29225271 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. 2021-06-13T12:02:48Z human_phenotype HP:5000002 Anti-Amphiphysin antibody HP:5000002 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin. PMID:20420178 PMID:27773907 PMID:31624089 PMID:32087460 PMID:33173498 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). 2021-06-13T12:02:48Z Anti-Ca antibody Anti-RhoGTPase-activating protein 26 antibody human_phenotype HP:5000003 Anti-ARHGAP26 antibody HP:5000003 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26). PMID:26298328 PMID:28601293 PMID:30158896 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). 2021-06-13T12:02:48Z Anti CARPVIII antibody Anti-carbonic anhydrase-related protein VIII antibody human_phenotype HP:5000004 Anti-CARP VIII antibody HP:5000004 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII). PMID:23568983 PMID:26377085 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). 2021-06-13T12:02:48Z Anti-Caspr2 antibody Anti-contactin-associated protein-like 2 antibody human_phenotype HP:5000005 Anti-CASPR2 HP:5000005 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2). PMID:29561731 PMID:32651251 PMID:32783406 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. 2021-06-13T12:02:48Z HP:5000041 Anti-CV2 antibody Anti-CV2/collapsin response mediator protein (CRMP)5 antibody Anti-collapsin response-mediated protein 5 antibody human_phenotype HP:5000006 Anti-CV2/CRMP5 antibody positivity HP:5000006 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum. PMID:18931014 PMID:31656691 PMID:32110228 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). 2021-06-13T12:02:48Z Anti-dipeptidyl-peptidase-like protein 6 antibody human_phenotype HP:5000007 Anti-DPPX antibody HP:5000007 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX). PMID:27299786 PMID:28258082 PMID:32087460 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. 2021-06-13T12:02:48Z Anti-fibroblast growth factor receptor 3 antibody human_phenotype HP:5000008 Anti-FGFR3 antibody positivity HP:5000008 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3. PMID:33563795 PMID:33588772 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. 2021-06-13T12:02:48Z Anti-GABAA R antibody Anti-gamma amino butyric acid type A receptors antibody human_phenotype HP:5000009 Anti-GABA(A)R antibody HP:5000009 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R. PMID:28202703 PMID:30347219 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. 2021-06-13T12:02:48Z Anti-gamma-aminobutyric acid B receptor antibody human_phenotype HP:5000010 Anti-GABA(B)R antibody HP:5000010 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R. PMID:32103919 PMID:32710704 PMID:32783406 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). 2021-06-13T12:02:48Z Anti-glutamic acid decarboxylase 65 antibody human_phenotype HP:5000011 Anti-GAD65 antibody HP:5000011 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65). PMID:30343467 PMID:32087461 PMID:32123047 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. 2021-06-13T12:02:48Z human_phenotype HP:5000012 Anti-Gephyrin antibody HP:5000012 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin. PMID:20420178 PMID:22270318 PMID:29561731 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). 2021-06-13T12:02:48Z Anti-glial fibrillary acidic protein antibody human_phenotype HP:5000013 Anti-GFAP antibody HP:5000013 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP). PMID:28120349 PMID:30663514 PMID:32019875 PMID:32827972 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). 2021-06-13T12:02:48Z Anti-glycine receptor antibody human_phenotype HP:5000014 Anti-GlyR antibody HP:5000014 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR). PMID:21242500 PMID:22215239 PMID:32087460 PMID:32585946 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. 2021-06-13T12:02:48Z Anti-Homer protein homolog 3 antibody human_phenotype HP:5000015 Anti-Homer-3 antibody HP:5000015 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3. PMID:26377085 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. 2021-06-13T12:02:48Z Anti-ANNA-1 antibody Anti-Neuronal Nuclear Antibody type-1 antibody human_phenotype HP:5000016 Anti-Hu antibody positivity HP:5000016 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu. PMID:11344832 PMID:18931014 PMID:19015226 PMID:25764259 PMID:32851899 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). 2021-06-13T12:02:48Z Anti-immunoglobulin-like cell adhesion molecule 5 antibody human_phenotype HP:5000017 Anti-Iglon5 antibody HP:5000017 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5). PMID:27299786 PMID:28381508 PMID:30694925 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). 2021-06-13T12:02:48Z Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody human_phenotype HP:5000018 Anti-ITPR1 antibody HP:5000018 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1). PMID:28203616 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). 2021-06-13T12:02:48Z Anti-KLHL11 antibody human_phenotype HP:5000019 Anti-Kelch like protein 11 antibody positivity HP:5000019 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11). PMID:31269365 Anti-KLHL11 antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). 2021-06-13T12:02:48Z Anti-Anti-leucine-rich glioma-inactivated 1 antibody human_phenotype HP:5000020 Anti-LGI1 antibody HP:5000020 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1). PMID:32710704 PMID:32783406 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. 2021-06-13T12:02:48Z human_phenotype HP:5000021 Anti-Ma antibody positivity HP:5000021 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma. PMID:27460184 PMID:33070888 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. 2021-06-13T12:02:48Z Anti-Ta antibody human_phenotype HP:5000022 Anti-Ma2 antibody positivity HP:5000022 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2. PMID:15179063 PMID:15215214 PMID:18223018 PMID:26664526 PMID:27460184 PMID:31044049 PMID:31454760 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. 2021-06-13T12:02:48Z human_phenotype HP:5000023 Anti-Ma1 antibody positivity HP:5000023 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1. PMID:15179063 PMID:27460184 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). 2021-06-13T12:02:48Z Anti-metabotropic glutamate receptor 1 antibody human_phenotype HP:5000024 Anti-mGluR1 antibody HP:5000024 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1). PMID:26377085 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). 2021-06-13T12:02:48Z Anti-Metabotropic Glutamate Receptor Type 5 antibody human_phenotype HP:5000025 Anti-mGluR5 antibody HP:5000025 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5). PMID:29703767 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. 2021-06-13T12:02:48Z Anti-neurexin-3alpha antibody human_phenotype HP:5000026 Anti-neurexin-3alpha antibody positivity HP:5000026 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha. PMID:27170572 PMID:27170573 PMID:28840178 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). 2021-06-13T12:02:48Z Anti-P/Q-type voltage-gated calcium-channel antibody human_phenotype HP:5000027 Anti-P/Q-type VGCC antibody positivity HP:5000027 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs). PMID:18295972 PMID:18653248 PMID:21115345 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). 2021-06-13T12:02:48Z Anti-Purkinje cell cytoplasmic type-2 antibody Anti-microtubule-associated protein 1B antibody human_phenotype HP:5000028 Anti-MAP1B antibody HP:5000028 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B). PMID:28074593 PMID:31801846 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. 2021-06-13T12:02:48Z Anti-Protein kinase C gamma antibody human_phenotype HP:5000029 Anti-PKCgamma antibody HP:5000029 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma. PMID:16801349 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody. 2021-06-13T12:02:48Z Anti-ANNA-2 antibody human_phenotype HP:5000030 Anti-Ri antibody HP:5000030 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody. PMID:15179063 PMID:29332416 PMID:32170042 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. 2021-06-13T12:02:48Z human_phenotype HP:5000031 Anti-Septin-5 antibody HP:5000031 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5. PMID:29998156 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). 2021-06-13T12:02:48Z human_phenotype HP:5000032 Anti-SEZ6L2 antibody HP:5000032 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2). PMID:33144342 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. 2021-06-13T12:02:48Z Anti-Sry-like high mobility group box (SOX) 1 antibody human_phenotype HP:5000033 Anti-SOX1 antibody HP:5000033 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells. PMID:19667272 PMID:32103919 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. 2021-06-13T12:02:48Z Anti-delta/notch-like epidermal growth factor-related receptor antibody PCA-Tr human_phenotype HP:5000034 Anti-Tr/DNER antibody HP:5000034 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr. PMID:15179063 PMID:25745634 PMID:26377319 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). 2021-06-13T12:02:48Z human_phenotype HP:5000035 Anti-TRIM46 antibody HP:5000035 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46). PMID:28904989 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. 2021-06-13T12:02:48Z human_phenotype HP:5000036 Anti-TRIM9/TRIM67 antibody HP:5000036 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67. PMID:30350014 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. 2021-06-13T12:02:48Z Anti-Purkinje cell cytoplasmic antibody 1 human_phenotype HP:5000037 Anti-Yo antibody positivity HP:5000037 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo. PMID:10980743 PMID:27606347 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. 2021-06-13T12:02:48Z human_phenotype HP:5000038 Anti-titin antibody positivity HP:5000038 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin. PMID:27235344 PMID:30918333 PMID:32830177 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). 2021-06-13T12:02:48Z human_phenotype HP:5000039 Anti-Zic4 antibody positivity HP:5000039 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4). PMID:29249374 PMID:29525731 PMID:31533147 PMID:32087460 Increased space between the distal radius and distal ulna at sigmoid notch (radioulnar distance more than 6 mm at the sigmoid notch). 2025-10-30T12:27:40Z human_phenotype HP:5000040 Distal radioulnar joint space widening HP:5000040 HP:5000006 2021-06-13T12:02:48Z human_phenotype HP:5000041 obsolete Anti-CRMP5 antibody positivity true HP:5000041 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. 2021-06-13T12:02:48Z Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody human_phenotype HP:5000042 Anti-Sj/ITPR1 antibody HP:5000042 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor. PMID:23568983 PMID:26377085 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. 2021-06-13T12:02:48Z Anti-dopamine-2 receptors (D2R) antibody human_phenotype HP:5000043 Anti-D2 R antibody HP:5000043 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor. PMID:27299786 PMID:32612568 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). 2021-06-13T12:02:48Z Anti-glutamate kainate receptor subunit 2 antibody human_phenotype HP:5000044 Anti-GluK2 antibody HP:5000044 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2). PMID:33949707 HP:0030210 2021-06-13T12:02:48Z human_phenotype HP:5000045 obsolete Anti-MuSK antibody positivity true HP:5000045 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). 2021-06-13T12:02:48Z Anti-low-density lipoprotein receptor-related protein 4 antibody human_phenotype HP:5000046 Anti-Lrp4 antibody positivity HP:5000046 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4). PMID:32830177 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. 2021-06-13T12:02:48Z Anti-RyR antibody human_phenotype HP:5000047 Anti-ryanodine receptor antibody HP:5000047 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor. PMID:30918333 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. 2021-06-13T12:02:48Z human_phenotype HP:5000048 Anti-Kv1.4 antibody HP:5000048 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4. PMID:22167224 PMID:30918333 Abnormal linear movement or displacement of the ulnar head relative to the radius at the wrist, indicating instability of the distal radioulnar joint, which is the distal articulation between the radius and ulna, acting as a major weight-bearing joint at the wrist and distributing forces across the forearm bones. 2025-10-30T12:28:45Z human_phenotype HP:5000049 CT scan shows subluxation of the distal ulna either volar, dorsal, or lateral such that it is no longer congruent in the sigmoid notch. Distal radioulnar joint translation HP:5000049 Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time. 2023-03-23T14:48:16Z human_phenotype HP:5200001 Selective mutism HP:5200001 An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face. 2023-03-23T14:48:16Z Reduced range of facial expressions human_phenotype HP:5200002 Limited repertoire of facial expression HP:5200002 Reduced range of facial expressions https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms. 2023-03-23T14:48:16Z human_phenotype HP:5200003 Excessive interest in others HP:5200003 HP:0012760 2023-03-23T14:48:16Z human_phenotype HP:5200004 obsolete Reduced response to another's attempt to get direct attention true HP:5200004 Persistently abnormally high or low-pitched vocalization or speech than is considered the norm for the context of social situation or significantly different from baseline of the individual. 2023-03-23T14:48:16Z human_phenotype HP:5200005 Pitch refers to the frequency of sound waves (measured in Hertz). Abnormal pitch HP:5200005 Persistent abnormalities in the sentence structure in speech, phrases may not be logically connected to each other, gives the impression of rambling. This may be a characteristic feature of the individual or may be a change from the norm of the affected individual. 2023-03-23T14:48:16Z Loose association human_phenotype HP:5200006 Loose association is highly correlated with flight of ideas and for which it is the speech-based expression. Typically it is very difficult to follow the logic in the expressed speech. The affected individual's speech is characterized by expressions in speech that have weak (e.g. tangential/circumstantial) connections between ideas. Disjointed sentences HP:5200006 Consistent use of an invented word that is unique to an individual. 2023-03-23T14:48:16Z human_phenotype HP:5200007 Neologism HP:5200007 Use of language that is overly formal, precise, detailed, or pedantic for the social context. 2023-03-23T14:48:16Z human_phenotype HP:5200008 This term may apply to a persistent and ongoing feature of the affected individual or to a change from baseline. Overly formal/pedantic language HP:5200008 Hand stereotypies within the medial plane of the body. 2023-03-23T14:48:16Z human_phenotype HP:5200009 Midline hand movements HP:5200009 Hand stereotypies within the medial plane of the body. PMID:28838622 Abnormal rise and fall of the voice in speech and vocalization for the context and cultural situation. 2023-03-23T14:48:16Z human_phenotype HP:5200010 Abnormal Intonation HP:5200010 Speech that is abnormally fast or slow as compared to the perceived cultural norm. 2023-03-23T14:48:16Z human_phenotype HP:5200011 The term Abnormal speech rate can also be used for a comparison at the individual level, speech that is faster or slower compared to the baseline of the individual. Abnormal speech rate HP:5200011 Speech with persistent abnormal rhythm or pattern for the context and cultural situation. This may occur constantly throughout conversations with the person or may occur in periodic bursts lasting several minutes to hours. 2023-03-23T14:48:16Z human_phenotype HP:5200012 Abnormal speech rhythm HP:5200012 Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression. 2023-03-23T14:48:16Z human_phenotype HP:5200013 Ambiguous facial expression HP:5200013 A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate. 2023-03-23T14:48:16Z human_phenotype HP:5200014 Exaggerated facial expression HP:5200014 A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat. 2023-03-23T14:48:16Z Flat facial expression human_phenotype HP:5200015 Muted facial expression HP:5200015 Flat facial expression https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends. 2023-03-23T14:48:16Z human_phenotype HP:5200016 Abnormal peer relationships HP:5200016 Abnormal movements of face and head. 2023-03-23T14:48:16Z human_phenotype HP:5200017 Stereotypic movements of face and head HP:5200017 Abnormal movements of the upper extremities. 2023-03-23T14:48:16Z human_phenotype HP:5200018 Stereotypic upper-extremity movements HP:5200018 Abnormal movements of the whole body. 2023-03-23T14:48:16Z human_phenotype HP:5200019 Stereotypic whole-body movements HP:5200019 A deviation from typical perceived social engagement with other individuals given the social context. This may manifest as either an excessive interest (e.g., persistent preoccupation with another person, excessive attempts to engage) or an abnormal lack of interest (e.g., minimal or absent social curiosity) in others. 2023-03-23T14:48:16Z human_phenotype HP:5200020 Abnormal interest in others HP:5200020 A deviation from typical perceived social engagement with other individuals given the social context. This may manifest as either an excessive interest (e.g., persistent preoccupation with another person, excessive attempts to engage) or an abnormal lack of interest (e.g., minimal or absent social curiosity) in others. PMID:29914590 A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting. 2023-03-23T14:48:16Z HP:5200025 Abnormal social awareness Abnormal social understanding human_phenotype HP:5200021 Reduced social insight HP:5200021 Abnormal social understanding https://orcid.org/0000-0001-9112-5148 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-6670-9157 https://orcid.org/0000-0002-9593-5508 Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions. 2023-03-23T14:48:16Z human_phenotype HP:5200022 Reduced awareness of convention HP:5200022 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is outside of the reference limit for age. 2026-03-31T13:18:13Z Abnormal HLA-DR expression on T cells Abnormal proportion of DR+ T cells human_phenotype HP:5200023 HLA-DR expression on T cells is an activation marker; elevated proportions reflect in vivo T cell activation status even when measured ex vivo without prior stimulation. This feature can be measured by flow cytometry. Abnormal HLA-DR+ T cell proportion HP:5200023 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is outside of the reference limit for age. PMID:9000587 The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context. 2023-03-23T14:48:16Z human_phenotype HP:5200024 Abnormal relationship HP:5200024 HP:5200021 2023-03-23T14:48:16Z human_phenotype HP:5200025 obsolete Abnormal social awareness true HP:5200025 Reduced use of imitation of tasks or movements of others in play or learning. 2023-03-23T14:48:16Z HP:5200031 HP:5200032 Decreased imitation of others Reduced immediate imitation of others human_phenotype HP:5200026 The ability to imitate others is common in children during early cognitive development (4-5 years old) and can be abnormal in children with developmental delay. Impaired social imitation HP:5200026 Reduced use of imitation of tasks or movements of others in play or learning. PMID:18221343 Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others. 2023-03-23T14:48:16Z HP:4000080 Infrequent attempts to direct the attention of another person Reduced attempt to get or direct the attention of another person Reduced social initiation human_phenotype HP:5200027 Social interactions can be begun by eye contact, nodding with the head, saying hello, or otherwise capturing the attention of another person with the intention of starting an interaction. The failure of a person to initiate social interactions with others can be observed when the examiner assesses that the person has had the opportunity to initiate interactions but did not do so for an extended period. Additionally, the interaction must be spontaneous and not prompted by another individual. This can be observed in individuals with long-standing social deficits, such as those with autism, as well as in episodic disorders like severe depressive episodes. Infrequent social initiations HP:5200027 Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others. PMID:14622895 A tendency to display responces to social cues that are interpreted (e.g., by family members, peers, or caregivers) as diminished compared to what would be expected based on the developmental stage and cultural context of an individual. 2023-03-23T14:48:16Z HP:5200036 HP:5200053 HP:5200054 Reduced response to social cues Lack of response to verbal cues Reduced responsiveness to verbal cues human_phenotype HP:5200028 This term describes a behavioral abnormality and does not apply if the lack of response is assessed to be due to hearing impairment or intellectual disability. Reduced responsiveness to social cues HP:5200028 A tendency to violate social norms because of a failure to resist temptations or urges in social settings. 2023-03-23T14:48:16Z human_phenotype HP:5200029 A tendency to social disinhibition can be acquired after traumatic brain injury and may be described as insensitivity to others. Manifestions of social disinhibition may include (1) insertion of poorly considered utterances including insensitive remarks,overly intimate information, sexual references, and swear words, (2) failure to adhereto the rules of discourse leading to poor turn-taking, excessive side tracks, off topics,and talking too much, and (3) speaking from an egocentric perspective, that is,lacking concern, selfishness, childishness, arguing, not getting along with others. Social disinhibition HP:5200029 A tendency to violate social norms because of a failure to resist temptations or urges in social settings. PMID:27696753 A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech. 2023-03-23T14:48:16Z human_phenotype HP:5200030 Diminished integration of verbal and non-verbal communicative behavior HP:5200030 HP:5200026 2023-03-23T14:48:16Z human_phenotype HP:5200031 obsolete Deferred imitation of others true HP:5200031 HP:5200026 2023-03-23T14:48:16Z human_phenotype HP:5200032 obsolete Reduced immediate imitation of others true HP:5200032 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is above the upper reference limit for age. 2026-03-31T13:23:35Z Elevated proportion of DR+ T cells Elevated proportion of HLA-DR expressing T cells human_phenotype HP:5200033 Reflects increased in vivo T cell activation. Increased HLA-DR+ T cell proportion HP:5200033 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is above the upper reference limit for age. PMID:9000587 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is below the upper reference limit for age. 2026-03-31T13:23:41Z Reduced proportion of DR+ T cells Reduced proportion of HLA-DR expressing T cells human_phenotype HP:5200034 May reflect T cell hypoactivation or exhaustion. Decreased HLA-DR+ T cell proportion HP:5200034 The proportion of peripheral blood T lymphocytes expressing HLA-DR (CD3+HLA-DR+) is below the upper reference limit for age. PMID:9000587 Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventurous scenarios. 2023-03-23T14:48:16Z Reduced collaborative imaginative play human_phenotype HP:5200035 Reduced cooperative imaginative play HP:5200035 HP:5200028 2023-03-23T14:48:16Z human_phenotype HP:5200036 obsolete Reduced responsiveness to verbal cues true HP:5200036 The observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying. 2023-03-23T14:48:16Z Lack of empathy Lack of expressed sympathy Reduced empathic arousal Reduced sympathetic expression human_phenotype HP:5200037 Empathy can be defined as the ability to explain, predict and interpret behavior by attributing mental states such as desire, beliefs, intentions and emotions to oneself and to other people. Empathy cannot be directly observed. Lack of expressed empathy HP:5200037 The observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying. PMID:23929944 PMID:37852203 Speech that is abnormally slow as compared to the perceived cultural norm. 2023-03-23T14:48:16Z Bradylogia Slow speech human_phenotype HP:5200038 Bradylalia can also be used for speech that is slower compared to the baseline of the individual. Bradylalia HP:5200038 Speech which is persistently abnormally and noticeably loud or high volume for the social and cultural context and is not due to a structural or muscular abnormality. Those around the person often consider them to be shouting. 2023-03-23T14:48:16Z Speech too loud for context human_phenotype HP:5200039 Excessively loud speech HP:5200039 Speech which is persistently abnormally quiet, or of low in volume for the social and cultural context. This includes persistent and inappropriate whispering. It is not due to a medical or surgical condition that results in hoarseness, nor structural or muscular abnormality that results in low speech volume. 2023-03-23T14:48:16Z Excessively quiet voice Excessively soft voice Speech to soft for context human_phenotype HP:5200040 Excessively quiet speech HP:5200040 Speech that is abnormally loud or quiet for the social and cultural context in which it is spoken. It is clinically noted by others, including family, friends, or clinical providers. 2023-03-23T14:48:16Z human_phenotype HP:5200043 Abnormal speech volume HP:5200043 An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention. 2023-03-23T14:48:16Z human_phenotype HP:5200044 Reduced attention regulation HP:5200044 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. 2023-03-23T14:48:16Z Impaired self-restraint human_phenotype HP:5200045 Reduced impulse control HP:5200045 Reduced ability to control, or a failure to resist a temptation, urge, or impulse. PMID:16263865 Impaired self-restraint https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli. 2023-03-23T14:48:16Z human_phenotype HP:5200046 Sensory behavioral abnormality HP:5200046 When one uses gestures that are unique to them and have no apparent meaning to others. 2023-03-23T14:48:16Z human_phenotype HP:5200047 Idiosyncratic gesture HP:5200047 When one uses gestures that are unique to them and have no apparent meaning to others. PMID:22954367 Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity. 2023-03-23T14:48:16Z Arranging Ordering human_phenotype HP:5200049 Atypical sorting HP:5200049 Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity. PMID:31016439 Arranging https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Ordering https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Checking behavior that is excessive for the situational context. 2023-03-23T14:48:16Z Checking behaviors Checking behaviours human_phenotype HP:5200050 Excessive checking HP:5200050 Checking behavior that is excessive for the situational context. PMID:31016439 Checking behaviors https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Checking behaviours https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Hand washing behavior that is excessive for the situational context. 2023-03-23T14:48:16Z human_phenotype HP:5200051 Excessive hand washing HP:5200051 Distress in response to minor changes in one's environmental expectations. 2023-03-23T14:48:16Z human_phenotype HP:5200052 Typical examples of resistance to trivial environmental changes include distress when receiving the wrong color cup or when furniture is moved. Resistance to trivial environmental changes HP:5200052 HP:5200028 2023-03-23T14:48:16Z human_phenotype HP:5200053 obsolete Reduced nonverbal responsiveness to verbal cues true HP:5200053 HP:5200028 2023-03-23T14:48:16Z human_phenotype HP:5200054 obsolete Reduced verbal responsiveness to verbal cues true HP:5200054 Reduced use of speech-integrated gestures such as the use of beat gestures. 2023-03-23T14:48:16Z human_phenotype HP:5200055 Reduced co-speech gestures HP:5200055 Absence or reduction in the use of head nodding to indicate agreement or head shaking to indicate disagreement. 2023-03-23T14:48:16Z human_phenotype HP:5200056 Limited head nodding or shaking HP:5200056 Absence or reduction in the use of pointing to request or direct another's attention. 2023-03-23T14:48:16Z human_phenotype HP:5200057 Limited pointing HP:5200057 A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress. 2023-03-23T14:48:16Z human_phenotype HP:5200058 Sensory hypersensitivity HP:5200058 A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress. PMID:29112858 Increased tolerance to sensory stimuli due to diminished sensory ability. 2023-03-23T14:48:16Z human_phenotype HP:5200059 Sensory hyposensitivity unexplained by sensory deficit HP:5200059 Increased tolerance to sensory stimuli due to diminished sensory ability. PMID:29112858 Hyperresponsive to sound that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z Loudness intolerance Sensitivity to noise human_phenotype HP:5200060 Auditory hypersensitivity HP:5200060 Hyperresponsive to sound that is abnormal in intensity and/or frequency. PMID:29112858 Loudness intolerance https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Sensitivity to noise https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 A decreased tolerance to physical touch. 2023-03-23T14:48:16Z human_phenotype HP:5200061 Tactile hypersensitivity HP:5200061 A decreased tolerance to physical touch. PMID:29112858 Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z human_phenotype HP:5200062 Auditory sensory seeking HP:5200062 Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency. PMID:29112858 Pursuit of a particular taste that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z human_phenotype HP:5200063 Gustatory sensory seeking HP:5200063 Pursuit of a particular taste that is abnormal in intensity and/or frequency. PMID:29112858 Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z Smell seeking human_phenotype HP:5200064 Olfactory sensory seeking HP:5200064 Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency. PMID:29112858 Smell seeking https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Pursuit of a specific texture that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z human_phenotype HP:5200065 Tactile sensory seeking HP:5200065 Pursuit of a specific texture that is abnormal in intensity and/or frequency. PMID:29112858 Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z human_phenotype HP:5200066 Vestibular sensory seeking HP:5200066 Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency. PMID:29112858 Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency. 2023-03-23T14:48:16Z human_phenotype HP:5200067 Visual sensory seeking HP:5200067 Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency. PMID:29112858 A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked. 2023-03-23T14:48:16Z human_phenotype HP:5200068 Socially inappropriate questioning HP:5200068 An excessive frequency of spinning one's body. 2023-03-23T14:48:16Z Twirling human_phenotype HP:5200069 Spinning HP:5200069 Twirling https://orcid.org/0000-0001-8430-6039 https://orcid.org/0000-0002-0736-9199 https://orcid.org/0000-0002-4142-7153 https://orcid.org/0000-0002-4422-1708 https://orcid.org/0000-0003-3777-1389 Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies. 2023-03-23T14:48:16Z human_phenotype HP:5200071 Delayed Echolalia HP:5200071 Immediate repetition of another person's speech. 2023-03-23T14:48:16Z human_phenotype HP:5200072 Immediate Echolalia HP:5200072 Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context. 2023-03-23T14:48:16Z human_phenotype HP:5200073 Excessive cleaning HP:5200073 2023-06-14T19:47:31Z human_phenotype HP:5200100 Facial expressions not directed to others HP:5200100 2023-06-14T19:47:31Z human_phenotype HP:5200101 Limited Repertoire of gestures HP:5200101 Reduced production of smiles during engagement with an interactive parent, caregiver, or peer. 2023-06-14T19:47:31Z human_phenotype HP:5200102 In typical development, smiling is one of the most commonly observed social behaviors during the first 6 months of life. Most babies begin to smile by the age of about 2 months. Reduced social smiling HP:5200102 Reduced production of smiles during engagement with an interactive parent, caregiver, or peer. PMID:17682330 HP:0012760 2023-06-14T19:47:31Z human_phenotype HP:5200103 obsolete Reduced social responsiveness true HP:5200103 An abnormality in a child's ability play. 2023-06-14T19:47:31Z human_phenotype HP:5200104 Does not apply to the presence of abnormal play. The presence of abnormal play should be specified under atypical repetitive behaviors. Abnormal play HP:5200104 Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play). 2023-06-14T19:47:31Z human_phenotype HP:5200105 Reduced imaginative play skills HP:5200105 Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play). PMID:26263228 Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning). 2023-06-14T19:47:31Z human_phenotype HP:5200108 Nonfunctional or atypical use of objects in play HP:5200108 Lower than typical number of attempts to engage peers in conversation, play, or other interactions. 2023-06-14T19:47:31Z HP:5200137 Aloneness Infrequent attempting to engage peers Marked preference for solitude Poor social engagement Prefers being alone human_phenotype HP:5200110 Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. Infrequent social engagement with peers HP:5200110 Lower than typical number of attempts to engage peers in conversation, play, or other interactions. PMID:25328380 PMID:36601420 An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring. 2023-06-14T19:47:31Z human_phenotype HP:5200111 Avoidance of emotional intimacy HP:5200111 An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring. PMID:21337211 An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention. 2023-06-14T19:47:31Z human_phenotype HP:5200113 This term refers specifically to offering information in order to initiate social interactions and should not be applied to a person who is reluctant to offer information when prompted. Failure to offer information to initiate social interaction HP:5200113 2023-06-14T19:47:31Z human_phenotype HP:5200116 Difficulty understanding nonliteral meaning of conversation HP:5200116 2023-06-14T19:47:31Z human_phenotype HP:5200117 Poor recognition of injustice HP:5200117 A difficulty in recognizing or interpreting the emotional states of other individuals. 2023-06-14T19:47:31Z human_phenotype HP:5200118 This may include problems identifying emotions from facial expressions, tone of voice, or contextual cues, and may extend to reduced empathic understanding when others describe their feelings. Frequently observed in individuals with autism spectrum disorder and other conditions affecting social cognition. Difficulty recognizing another's emotions HP:5200118 2023-06-14T19:47:31Z human_phenotype HP:5200119 Difficulty understanding humor HP:5200119 An atypically low production of emotion social communications including those produced by communicative behaviors such as facial expressions, body language, and verbal communication. 2023-06-14T19:47:31Z Abnormality in emotional social interactions human_phenotype HP:5200120 Abnormal social emotional interactions HP:5200120 A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions. 2023-06-14T19:47:31Z Treats people like objects human_phenotype HP:5200121 Objectification of others HP:5200121 HP:0031433 2023-06-14T19:47:31Z human_phenotype HP:5200122 obsolete Difficulty communicating emotions true HP:5200122 An atypical understanding or application of social rules and conventions that guide interpersonal behavior. This may include reduced awareness of social norms or rigid, context-insensitive adherence to them. 2023-06-14T19:47:31Z human_phenotype HP:5200123 Abnormal response to social norms HP:5200123 Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. 2023-06-14T19:47:31Z human_phenotype HP:5200124 Indifference to social norms is characterized by an indifference to the consequences of breaking social norms. Indifference to social norms HP:5200124 Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. PMID:32484000 Aggression that is directed towards other individuals, as opposed to oneself. 2023-06-14T19:47:31Z human_phenotype HP:5200125 Aggression towards others HP:5200125 Aggression that is directed towards caregivers. 2023-06-14T19:47:31Z human_phenotype HP:5200126 Aggression towards caregivers HP:5200126 Aggression that is directed towards non-caregivers. 2023-06-14T19:47:31Z human_phenotype HP:5200127 Aggression toward non-caregivers HP:5200127 HP:0034434 2023-06-14T19:47:31Z human_phenotype HP:5200128 obsolete Deficit applying language skills across context true HP:5200128 Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them. 2023-06-14T19:47:31Z human_phenotype HP:5200129 Abnormal rituals HP:5200129 2023-06-14T19:47:31Z human_phenotype HP:5200130 Insistence on sameness HP:5200130 HP:0012760 2023-06-14T19:47:31Z human_phenotype HP:5200131 obsolete Reduced use of language for social purposes true HP:5200131 2023-06-14T19:47:31Z human_phenotype HP:5200132 Atypical sensory examination of objects HP:5200132 2023-06-14T19:47:31Z human_phenotype HP:5200133 Intense attachment to unusual objects HP:5200133 An excessive frequency of jumping in place. 2023-06-14T19:47:31Z Bouncing Hopping Pogo-ing human_phenotype HP:5200134 Jumping HP:5200134 Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years. 2023-06-14T19:47:31Z human_phenotype HP:5200135 Delay in the acquisition of cooperative play skills HP:5200135 Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years. PMID:35052266 Reduced responses to other people's emotions and/or a lack of modulation of behaviour according to social context. 2023-06-14T19:47:31Z Reduced social reciprocity with peers Reduced friendship reciprocity human_phenotype HP:5200136 Reduced social reciprocity HP:5200136 Reduced responses to other people's emotions and/or a lack of modulation of behaviour according to social context. PMID:21769705 HP:5200110 2023-06-14T19:47:31Z human_phenotype HP:5200137 obsolete Infrequent social engagement with peers true HP:5200137 Perception of smell without olfactory stimulus. 2023-07-28T13:55:40Z Hallucinations of smell Smell hallucination human_phenotype HP:5200200 Olfactory hallucination HP:5200200 Perception of taste without gustatory stimulus. 2023-07-28T13:55:40Z Hallucinations of taste Taste hallucination human_phenotype HP:5200201 Gustatory hallucination HP:5200201 Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli. 2023-07-28T13:55:40Z human_phenotype HP:5200202 Abnormal interpretation of external stimuli HP:5200202 A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement. 2023-07-28T13:55:40Z human_phenotype HP:5200203 Proprioceptive hallucination HP:5200203 A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli. 2023-07-28T13:55:40Z human_phenotype HP:5200204 Disturbed perception with a stimulus HP:5200204 Perceptual experiences that involve misinterpretations or distortions of sensory stimuli. 2023-07-28T13:55:40Z human_phenotype HP:5200205 Illusions HP:5200205 Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention. 2023-07-28T13:55:40Z human_phenotype HP:5200207 Inattentiveness illusion HP:5200207 Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state. 2023-07-28T13:55:40Z human_phenotype HP:5200208 Illusions due to affect HP:5200208 Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects. 2023-07-28T13:55:40Z human_phenotype HP:5200209 Pareidolia HP:5200209 A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body. 2023-07-28T13:55:40Z human_phenotype HP:5200210 Autoscopy HP:5200210 A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others. 2023-07-28T13:55:40Z Photographic memory human_phenotype HP:5200211 Subjective eidetic images HP:5200211 A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual. 2023-09-15T08:42:11Z Amplified socialising Amplified socializing Increase in social interactions human_phenotype HP:5200212 Amplification of social interactions HP:5200212 A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual. PMID:18622776 PMID:27862615 Amplified socialising A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm. 2023-09-15T08:42:11Z Diminishment of empathy human_phenotype HP:5200213 This feature may be reported by family members, friends, or peers. Diminishment of emotional responsiveness HP:5200213 A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm. PMID:33370320 A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions. 2023-07-28T13:55:40Z Hallucination of bodily sensation Somatic bodily hallucination human_phenotype HP:5200214 Somatic hallucination HP:5200214 A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist. 2023-07-28T13:55:40Z human_phenotype HP:5200215 Visceral hallucination HP:5200215 Temporary alteration of the awareness of reality or self-perception. 2023-07-28T13:55:40Z human_phenotype HP:5200216 Abnormal perceptual state HP:5200216 A psychological experience or symptom characterized by a sense of detachment or estrangement from oneself or one's surroundings. 2023-07-28T13:55:40Z human_phenotype HP:5200217 Depersonalization HP:5200217 A subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance. 2023-07-28T13:55:40Z human_phenotype HP:5200218 Derealization HP:5200218 A subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance. PMID:16230322 PMID:18438947 Diminished mirroring or reflection of facial expressions in another person during social interactions. 2023-09-15T08:42:11Z Decreased facial expression reciprocity Lack of facial mirroring human_phenotype HP:5200220 Automatic mirroring of affective gestures and expressions refers to the unconscious imitation of gestures and expressions of other people during conversation. This term refers to the assessment that the affected person does not imitate gestures and expressions as much as typically expected in age-matched children. Decreased facial expression mirroring HP:5200220 Diminished mirroring or reflection of facial expressions in another person during social interactions. PMID:20636189 PMID:21264050 PMID:34541953 A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm. 2023-09-15T08:42:11Z Discomfort with physical contact Discomfort with physical touch Touch avoidance human_phenotype HP:5200221 For instance, an individual may choose to stand farther apart from others in conversations or decline physical contact when offered during social interactions.This feature may be reported by family members, friends, or peers. Diminishment of comfort with casual physical contact HP:5200221 The experience of sudden cessation of the thought/thinking process, the person often describes the mind going blank and there is frequently a period of silence that is accompanied by a perplexed state, not understanding what transpired. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head. 2023-09-15T08:42:11Z Thought withdrawal Thought-blocking human_phenotype HP:5200227 Thought blocking HP:5200227 The experience of sudden cessation of the thought/thinking process, the person often describes the mind going blank and there is frequently a period of silence that is accompanied by a perplexed state, not understanding what transpired. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head. PMID:24261209 Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli. 2023-07-28T13:55:40Z Abnormal fear Abnormal fear-related cognitions human_phenotype HP:5200230 Maladaptive fear-related cognitions HP:5200230 Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli. PMID:18304519 A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli. 2023-07-28T13:55:40Z human_phenotype HP:5200231 Hypervigilance HP:5200231 A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli. PMID:30273899 Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life. 2023-07-28T13:55:40Z human_phenotype HP:5200232 Phobia HP:5200232 Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life. PMID:28814472 A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal. 2023-07-28T13:55:40Z human_phenotype HP:5200233 Anticipatory anxiety HP:5200233 A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal. PMID:36221311 Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and lose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter. 2023-09-15T08:42:11Z Clang associations Distracted speech Rhyming puns human_phenotype HP:5200234 Flight of ideas HP:5200234 Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and lose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter. PMID:30416391 HP:0025769 2023-09-15T08:42:11Z human_phenotype HP:5200235 obsolete Disordered formal thought process true HP:5200235 2023-09-15T08:42:11Z human_phenotype HP:5200237 Pronunciation difficulties HP:5200237 2023-09-15T08:42:11Z human_phenotype HP:5200238 Vowel expressive impediment HP:5200238 2023-09-15T08:42:11Z human_phenotype HP:5200239 Consonant expressive impediment HP:5200239 2023-09-15T08:42:11Z Delayed verbal comprehension human_phenotype HP:5200240 Delayed spoken language comprehension HP:5200240 A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions. 2023-09-15T08:42:11Z human_phenotype HP:5200241 Recurrent maladaptive behavior HP:5200241 A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern. 2023-09-15T08:42:11Z human_phenotype HP:5200242 Cognitive distortions are often involved in the onset or perpetuation of psychopathological states, such as depression and anxiety. Cognitive distortion HP:5200242 An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers. 2023-10-01T11:03:51Z human_phenotype HP:5200243 Changes in behavior may be observed as a disease such as dementia progresses and may manifest in increased or decreased amounts of passivity, depressive affect, anxiety, self-centeredness, wandering, agitation, paranoia, and so on. Abnormal change in social behavior HP:5200243 An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers. PMID:35491774 An anomaly in demeanor, which refers to the outward behavior, manner, or conduct of a person. It encompasses how an individual presents themselves to others in terms of attitude, posture, and general comportment. 2023-07-28T13:55:40Z human_phenotype HP:5200261 Demeanor can be assessed by observation of an individual's posture, gestures, facial expressions, overall mannerisms, or other behavioral manifestations. Abnormal demeanor HP:5200261 An excessive increase in motivated and goal directed as well as non-goal directed behaviors that are usually accompanied by elevated energy and interest that allows individuals to get started, be energized to perform a sustained and directed action. The increase is often disruptive and typically results in unfavorable consequences. 2023-07-28T13:55:40Z Abnormally increased energy Abnormally increased motivation Abnormally increased personal volitional state human_phenotype HP:5200263 Abnormally increased volition HP:5200263 Speech pattern that is excessive and intense that often imparts a sense of urgency, the individual appears to be driven to communicate with many words that are spoken very quickly and may run into each other. The person is frequently difficult to interrupt and appears to not respond to social cues for the conversational partner(s) to take their turn in speaking. 2023-07-28T13:55:40Z Excessive speech output human_phenotype HP:5200265 Pressured speech manifests as an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. Pressured speech may sometimes be incoherent and continue even when no one is listening. Pressured speech HP:5200265 The sensation of having heavy arms and legs, or feeling a heaviness in the limbs. 2023-07-28T13:55:40Z human_phenotype HP:5200267 Leaden paralysis HP:5200267 HP:0025779 2023-07-28T13:55:40Z human_phenotype HP:5200269 obsolete Abnormal thought pattern true HP:5200269 Persistently exaggerated feelings and thoughts of an inflated sense of self-importance, superiority, uniqueness, or invulnerability. The affected individual may project arrogance with a dismissive behavioral pattern towards others the individual deems inferior. 2023-07-28T13:55:40Z human_phenotype HP:5200270 Grandiosity HP:5200270 Persistent and excessive feelings of despair with an overwhelming lack of hope. While hopelessness is primarily a personal experience, the sense of hopelessness becomes pervasive and affects most aspects of the personal experience in relation to the world. For example the person may communicate a sense of hopelessness for family and friends (who themselves do not experience hopelessness), as well as the world in general. 2023-07-28T13:55:40Z Exaggerated pessimism Hopeless human_phenotype HP:5200271 Hopelessness HP:5200271 A negative emotional state characterized by sadness, unhappiness, or sorrow that is excessive in intensity, duration, or resistance to self-regulation compared with culturally appropriate norms or the individual's usual emotional range. It may arise spontaneously or in response to significant life events, but when reactive, it is disproportionate to or persists beyond what is typically expected for the context. Pathological sadness can be associated with feelings of hopelessness, helplessness, anhedonia, and a pessimistic outlook, but these features are not invariably present. It may also be accompanied by increased tearfulness, low energy, cognitive difficulties such as impaired concentration, and somatic changes including disrupted sleep or appetite. 2023-07-28T13:55:40Z Profound unhappiness Depressed mood Down in the dumps Feeling hopeless all the time Has the blues Morbid sadness Unrelenting despondency Abnormal grief response Melancholy human_phenotype Dysthymia Emotional pain Profound despair Profound sorrow HP:5200273 Sadness, per se, is a basic emotion with negative valence and low arousal. Sadness has significant evolutionary implications from behavioral, cognitive, social and health perspectives. As sadness persists, physical and cognitive symptoms including fatigue, difficulty concentrating, disrupted sleep, and loss of interest or pleasure in activities may become present, when dominant, interfere with personal, social, or occupational functioning. This state is distinct from normative sadness or grief and should be differentiated from the syndromic presentation of Major Depressive Disorder. Pathological sadness HP:5200273 A negative emotional state characterized by sadness, unhappiness, or sorrow that is excessive in intensity, duration, or resistance to self-regulation compared with culturally appropriate norms or the individual's usual emotional range. It may arise spontaneously or in response to significant life events, but when reactive, it is disproportionate to or persists beyond what is typically expected for the context. Pathological sadness can be associated with feelings of hopelessness, helplessness, anhedonia, and a pessimistic outlook, but these features are not invariably present. It may also be accompanied by increased tearfulness, low energy, cognitive difficulties such as impaired concentration, and somatic changes including disrupted sleep or appetite. PMID:32001274 PMID:37359621 Down in the dumps Feeling hopeless all the time Has the blues HP:0025780 2023-07-28T13:55:40Z human_phenotype HP:5200275 obsolete Abnormal motivation true HP:5200275 There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep. 2023-07-28T13:55:40Z human_phenotype HP:5200276 Decreased need for sleep HP:5200276 Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea. 2023-07-28T13:55:40Z Difficult respiration during sleep human_phenotype HP:5200283 Sleep-related breathing disorders HP:5200283 Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea. PMID:29779616 PMID:34191224 HP:0003763 2023-07-28T13:55:40Z human_phenotype HP:5200284 obsolete Bruxism during sleep true HP:5200284 Repeated occurrence of nightmares that cause clinically significant distress or impairment in social, occupational or other important areas of functioning, which are not attributable to the physiological effects of a substance (e.g. drug abuse or medication) and which cannot be adequately explained by coexisting mental and medical disorders. 2023-07-28T13:55:40Z Disturbing dreams human_phenotype Nightmare disorder HP:5200287 Recurrent distressing nightmares HP:5200287 Repeated occurrence of nightmares that cause clinically significant distress or impairment in social, occupational or other important areas of functioning, which are not attributable to the physiological effects of a substance (e.g. drug abuse or medication) and which cannot be adequately explained by coexisting mental and medical disorders. PMID:30697860 PMID:33185995 Disturbing dreams Eating during sleep with limited to no recall of involuntary eating while asleep. 2023-07-28T13:55:40Z Consuming food while asleep Nocturnal sleep-related eating disorder (NS-RED) SRED Sleep eating human_phenotype Sleep-related eating disorder HP:5200288 Sleep-related eating may be associated with sleep walking. Sleep-related eating behavior HP:5200288 Eating during sleep with limited to no recall of involuntary eating while asleep. PMID:37234216 SRED Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time. 2023-07-28T13:55:40Z Short duration sleep human_phenotype HP:5200289 Microsleep HP:5200289 Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time. PMID:31553690 PMID:33205754 Sleep disorder in which one hears a loud noise or explosive crashing sound in one's head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night. 2023-07-28T13:55:40Z human_phenotype HP:5200290 Exploding head syndrome HP:5200290 Sleep disorder in which one hears a loud noise or explosive crashing sound in one's head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night. PMID:32757464 REM Sleep Behavior Disorder (RBD) is a chronic sleep condition characterized by dream enactment and loss of REM atonia. 2023-07-28T13:55:40Z RBD REM sleep behavior disorder REM sleep behaviour disorder Rapid eye movement sleep behavior disorder Rapid eye movement sleep behaviour disorder Sleep enactment human_phenotype HP:5200291 Normally during rapid eye movement (REM) sleep, the body experiences temporary paralysis (REM atonia) of most of the body's muscles while the brain is active and dreaming. REM sleep behavior disorder HP:5200291 REM Sleep Behavior Disorder (RBD) is a chronic sleep condition characterized by dream enactment and loss of REM atonia. PMID:32733361 PMID:36515157 RBD REM sleep behaviour disorder Rapid eye movement sleep behaviour disorder Sleep that is subjectively reported as unrefreshing even though the duration is adequate. 2023-07-28T13:55:40Z Non-refreshing sleep Unrefreshing sleep Waking up tired human_phenotype HP:5200292 Non-restorative sleep HP:5200292 Sleep that is subjectively reported as unrefreshing even though the duration is adequate. PMID:22560828 PMID:23997705 Waking up tired A parasomnia that occurs with awareness and recollection during the transition between sleep and and awake states. 2023-07-28T13:55:40Z Disturbance during transitions between sleep and wake states Sleep state switching Sleep-wake transition disorders human_phenotype HP:5200293 Sleep-wake transition abnormalities include rhythmic movement disorder, sleep starts, sleep talking, and nocturnal leg cramps. Sleep-wake transition abnormality HP:5200293 A parasomnia that occurs with awareness and recollection during the transition between sleep and and awake states. PMID:30252388 PMID:32949545 Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep. 2023-07-28T13:55:40Z Sexual behavior during sleep Sexual behaviour during sleep human_phenotype HP:5200294 Sexsomnia HP:5200294 Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep. PMID:35388549 PMID:36866491 Sexual behaviour during sleep Repetitive, stereotyped limb movements occurring during sleep, typically involving brief flexion of the toes, ankles, knees, or hips. These movements recur at regular intervals, often every 20-40 seconds, and may cause sleep fragmentation or daytime fatigue. PLMS commonly co-occurs with restless legs syndrome but may also occur independently. 2023-07-28T13:55:40Z Rhythmic limb movements during sleep human_phenotype HP:5200295 Periodic limb movements of sleep often occurs alongside Restless Legs Syndrome (RLS). Treatment for RLS may also help with PLMS. Periodic limb movements of sleep HP:5200295 Repetitive, stereotyped limb movements occurring during sleep, typically involving brief flexion of the toes, ankles, knees, or hips. These movements recur at regular intervals, often every 20-40 seconds, and may cause sleep fragmentation or daytime fatigue. PLMS commonly co-occurs with restless legs syndrome but may also occur independently. PMID:32809562 PMID:36507891 Abnormal transition of consciousness from sleeping to wakefulness. 2023-07-28T13:55:40Z Abnormal hypnopompia Abnormality waking up human_phenotype HP:5200296 Abnormal transition from sleep to wakefulness HP:5200296 Abnormal transition of consciousness from sleeping to wakefulness. PMID:36515157 Abnormal transition of consciousness from wakefulness to sleep. 2023-07-28T13:55:40Z Abnormal falling asleep Abnormal hypnagogia human_phenotype HP:5200297 Abnormal transition from wakefulness to sleep HP:5200297 Abnormal transition of consciousness from wakefulness to sleep. PMID:36515157 Interruptions during the various stages of sleep. 2023-07-28T13:55:40Z Sleep architecture disturbances Sleep stage disturbances human_phenotype HP:5200298 Abnormal sleep architecture HP:5200298 Interruptions during the various stages of sleep. PMID:30252388 Parasomnia occurs during REM sleep. 2023-07-28T13:55:40Z Disturbance in REM Rapid eye movement parasomnia human_phenotype HP:5200299 REM parasomnia HP:5200299 Parasomnia occurs during REM sleep. PMID:30252388 Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep. 2023-07-28T13:55:40Z Nocturnal myoclonus syndrome Periodic limb movement disorder human_phenotype HP:5200300 Abnormal movement during sleep HP:5200300 Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep. PMID:35659081 Decreased duration of phase N1 of nonrapid eye movement (NREM) sleep. 2023-07-28T13:55:40Z Short light sleep of NREM human_phenotype HP:5200304 N1 sleep may be delayed or disrupted by a number of sleep disorders, including insomnia, hypersomnia, and movement disorders such as restless legs syndrome. Short N1 sleep HP:5200304 Decreased duration of phase N1 of nonrapid eye movement (NREM) sleep. PMID:30252388 Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep. 2023-07-28T13:55:40Z Disturbance in perception related to sleep Sleep misperception Sleep state misperception human_phenotype HP:5200305 Paradoxical insomnia HP:5200305 Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep. PMID:25179115 Decreased duration of phase N2 of nonrapid eye movement (NREM) sleep. 2023-07-28T13:55:40Z Short subdued state of NREM human_phenotype HP:5200307 In the N2 sleep stage, muscles begin to relax, breathing and heart rate slow, and body temperature drops slightly. During this stage of the sleep cycle, your brain activity also slows down to help maintain sleep. Short N2 sleep HP:5200307 Decreased duration of phase N2 of nonrapid eye movement (NREM) sleep. PMID:30252388 Decreased duration of phase N3 of nonrapid eye movement (NREM) sleep. 2023-07-28T13:55:40Z Short slow wave sleep human_phenotype HP:5200309 On an electroencephalogram (EEG), N3 sleep is characterized by a distinct pattern of synchronized brain waves. These brain waves give N3 the moniker "slow-wave sleep. Short N3 sleep HP:5200309 Decreased duration of phase N3 of nonrapid eye movement (NREM) sleep. PMID:30252388 A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual. 2023-07-28T13:55:40Z Reduced, declined or lessened social interactions human_phenotype HP:5200310 This feature may be reported by family members or peers. This feature is distinct from (but may be accompanied by) loneliness, which can be defined as a perceived discrepancy between one's actual and desired social relationships. Diminishment of social interactions HP:5200310 A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual. PMID:17391357 PMID:31997686 An increase in the tendency of a person to share information or emotions compared to that person's previous norms. 2023-07-28T13:55:40Z Heightened, amplified social expression and social connectedness Increase in interpersonal communication human_phenotype HP:5200311 Amplification of interpersonal communication HP:5200311 An increase in the tendency of a person to share information or emotions compared to that person's previous norms. PMID:34958814 Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual. May be considered to be overfamiliar and have a tendency to engage strangers in a presumptive manner. 2023-07-28T13:55:40Z Extraversion Increased seeking of relationships human_phenotype HP:5200315 Amplification of relationship seeking HP:5200315 A reduction in the tendency of a person to share information or emotions compared to that person's previous norms. 2023-07-28T13:55:40Z A decline or reduced social expression and social connectedness Decreased interpersonal communication human_phenotype HP:5200316 This feature may be reported by family members, friends, or peers if the affected person begins to share less information or emotions than previously. Diminishment of interpersonal communication HP:5200316 A reduction in the tendency of a person to share information or emotions compared to that person's previous norms. PMID:19602917 A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships. 2023-07-28T13:55:40Z Decreased seeking of relationships Introversion Self-isolation Social isolation human_phenotype HP:5200320 The affected person may begin to avoid social outings or interactions. Diminishment of relationship seeking HP:5200320 An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm. 2023-07-28T13:55:40Z HP:0030214 Hypersexuality Increase in sexual behavior Increased sexual behavior Increased sexual behaviour human_phenotype HP:5200321 Engaging in riskier sexual practices, experiencing a significant increase in frequency, having multiple sexual partners, or spending excessive time on sexual activities can become disproportionate to other aspects of a person's life. Amplification of sexual behavior HP:5200321 An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm. PMID:24001164 PMID:26851616 Increased sexual behaviour An increase in the tendency of a person to express emotions compared to that person's previous norm. 2023-07-28T13:55:40Z Increase in emotional expression Increased emotional display human_phenotype HP:5200322 Examples of emotional behaviors include crying, laughing, and smiling. Amplification of emotional expression HP:5200322 An increase in the tendency of a person to express emotions compared to that person's previous norm. PMID:26851616 An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm. May be considered to be overreactive or over-engaged with interpersonal situations that may take on a persistent preoccupation and would appear to be relatively unrelated to the person, and beyond the expression of normal empathy. 2023-07-28T13:55:40Z Increase in emotional responsiveness human_phenotype HP:5200323 This feature may be reported by family members, friends, or peers. Amplification of emotional responsiveness HP:5200323 An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm. May be considered to be overreactive or over-engaged with interpersonal situations that may take on a persistent preoccupation and would appear to be relatively unrelated to the person, and beyond the expression of normal empathy. PMID:33991121 An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm. Often considered to be intrusive and encroaching on personal space of others less known to the person, frequently causing discomfort and may result in argument or altercation. 2023-07-28T13:55:40Z Increase in comfort with casual physical contact human_phenotype HP:5200325 Amplification of comfort with casual physical contact HP:5200325 A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state. 2023-07-28T13:55:40Z Decreased sexual behavior Decreased sexual behaviour Hyposexuality human_phenotype HP:5200327 Diminishment of sexual behavior HP:5200327 A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state. PMID:36735118 Decreased sexual behaviour A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers. 2023-07-28T13:55:40Z Decreased emotional display human_phenotype HP:5200328 Reduced frequency or subdued emotional behaviors like crying, laughter, and smiling, making the individual appear apathetic or disinterested. Diminishment of emotional expression HP:5200328 Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences. 2023-07-28T13:55:40Z Excessive alcohol consumption human_phenotype HP:5200329 Problematic alcohol consumption HP:5200329 Suicide attempts or preparations 2023-07-28T13:55:40Z Sucidality Suicidal actions human_phenotype HP:5200330 Suicidal thoughts, ideations, or perseveration should be labeled as HP:0031589. Suicide behaviors HP:5200330 Suicide attempts or preparations PMID:18653727 Misuse and/or abuse of sedative drugs. 2023-07-28T13:55:40Z Sedative addiction human_phenotype HP:5200331 Addictive sedative use HP:5200331 Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental. 2023-07-28T13:55:40Z Addiction to a behavior Addiction to a behaviour Addiction to an activity Addictive activity human_phenotype HP:5200332 Addictive non-substance behaviors HP:5200332 Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental. PMID:29098666 Addiction to a behaviour An uncontrollable urge to shop and spend money can lead to distress or impairment. 2023-07-28T13:55:40Z Shopaholic Shopping addiction Spending addiction human_phenotype HP:5200333 Addictive spending behavior HP:5200333 An uncontrollable urge to shop and spend money can lead to distress or impairment. PMID:17342214 The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value. 2023-07-28T13:55:40Z Gambling addiction human_phenotype HP:5200334 Addictive gambling behavior HP:5200334 The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value. PMID:29098666 Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function. 2023-07-28T13:55:40Z Sex addiction human_phenotype HP:5200335 Addictive sex behavior HP:5200335 Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function. PMID:26893127 The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities. 2023-07-28T13:55:40Z Excessive video game playing Video game addiction human_phenotype HP:5200336 Addictive video game use HP:5200336 Irresistible impulses to take easily affordable items. 2023-07-28T13:55:40Z Kleptomania human_phenotype HP:5200337 Compulsive stealing HP:5200337 Irresistible impulses to take easily affordable items. PMID:25696786 The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent. 2023-07-28T13:55:40Z Pyromania human_phenotype HP:5200338 Excessive fire setting HP:5200338 The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent. PMID:18052565 Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die. 2023-07-28T13:55:40Z Cutting Deliberate cutting of skin Self cutting human_phenotype HP:5200339 Self-cutting HP:5200339 Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die. PMID:7754789 A persistent and compulsive need to use cannabis, despite negative consequences. 2023-07-28T13:55:40Z Addictive marijuana use Cannabis addiction Marijuana addiction human_phenotype HP:5200341 Addictive cannabis use HP:5200341 A persistent and compulsive need to use cannabis, despite negative consequences. PMID:29556883 The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body. 2023-07-28T13:55:40Z Self-consumption human_phenotype HP:5200342 Autophagia HP:5200342 Sleep paralysis that occurs when falling asleep. 2023-07-28T13:55:40Z Inability to move while falling asleep Predormital sleep paralysis human_phenotype HP:5200352 During sleep paralysis, a person often hallucinates sounds or sensations, such as the presence of a person in the room or even on their chest. If sleep paralysis and these hallucinations occur as a person is falling asleep, they are considered hypnagogic hallucinations. Hypnagogic sleep paralysis HP:5200352 Sleep paralysis that occurs when falling asleep. PMID:28735779 Sleep paralysis that occurs when waking up from sleep. 2023-07-28T13:55:40Z Inability to move while awakening Postdormital paralysis Postdormital sleep paralysis human_phenotype HP:5200353 Hypnopompic sleep paralysis HP:5200353 Sleep paralysis that occurs when waking up from sleep. PMID:28735779 Entering REM sleep immediately upon falling asleep. 2023-08-11T17:58:27Z SOREMP Sleep-onset (REM) period Sleep-onset rapid eye movement (REM) period human_phenotype HP:5200356 The NREM stages of sleep are not skipped. Sleep onset rapid eye movement period HP:5200356 Entering REM sleep immediately upon falling asleep. PMID:36592569 SOREMP Increased duration of phase N1 of nonrapid eye movement (NREM) sleep. 2023-08-11T17:58:27Z human_phenotype HP:5200357 Prolonged N1 sleep HP:5200357 Increased duration of phase N1 of nonrapid eye movement (NREM) sleep. PMID:30252388 Increased duration of phase N2 of nonrapid eye movement (NREM) sleep. 2023-08-11T17:58:27Z human_phenotype HP:5200358 Prolonged N2 sleep HP:5200358 Increased duration of phase N2 of nonrapid eye movement (NREM) sleep. PMID:30252388 Increased duration of phase N3 of nonrapid eye movement (NREM) sleep. 2023-08-11T17:58:27Z human_phenotype HP:5200359 Prolonged N3 sleep HP:5200359 Increased duration of phase N3 of nonrapid eye movement (NREM) sleep. PMID:30252388 2023-08-11T17:58:27Z Short rapid eye movement sleep human_phenotype HP:5200360 Short REM sleep HP:5200360 2023-08-11T17:58:27Z Prolonged rapid eye movement sleep human_phenotype HP:5200361 Prolonged REM sleep HP:5200361 2023-08-11T17:58:27Z human_phenotype HP:5200362 Short NREM sleep HP:5200362 2023-08-11T17:58:27Z human_phenotype HP:5200363 Prolonged NREM sleep HP:5200363 Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation. 2023-07-28T13:55:40Z Abnormal beliefs human_phenotype HP:5200401 Abnormal judgment HP:5200401 A solitary belief that may be held by others in the society that is maintained by the person to an abnormal and morbid degree and overtly drives behaviors that are considered unhealthy, intrusive, or illegal. This includes fads and cults that the person may adhere to and practice to a morbid degree. The content may vary and ranges from religion, health, romance, or politics. 2023-07-28T13:55:40Z Overvalued ideas human_phenotype HP:5200402 An overvalued idea is held strongly, with less than delusional intensity, usually preoccupies the individual's mental life, compared to many delusions, is ego-syntonic, the content is usually regarded as abnormal compared to the general population (but not bizarre as some delusions), could progress to a delusion and may be associated with a high degree of affect (e.g. anxiety or anger when there is a threat to the loss of their goal or object of the belief). Overvalued idea HP:5200402 A solitary belief that may be held by others in the society that is maintained by the person to an abnormal and morbid degree and overtly drives behaviors that are considered unhealthy, intrusive, or illegal. This includes fads and cults that the person may adhere to and practice to a morbid degree. The content may vary and ranges from religion, health, romance, or politics. PMID:34972814 Overvalued ideas The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain. 2023-07-28T13:55:40Z human_phenotype HP:5200403 Time agnosia HP:5200403 The inability to recognize certain smells or types of odors that you previously recognized. 2023-07-28T13:55:40Z human_phenotype HP:5200405 Olfactory agnosia HP:5200405 The inability to recognize objects by touch is called tactile agnosia. 2023-07-28T13:55:40Z human_phenotype HP:5200406 Tactile agnosia HP:5200406 The inability to rely on visual cues to guide one's direction is due to the inability to recognize objects. 2023-07-28T13:55:40Z human_phenotype HP:5200407 Topographical agnosia HP:5200407 Delusional memory is a memory that is false or fantastically distorted, but held with firm and irrefutable conviction despite evidence to the contrary. It is often seen in psychiatric conditions such as delusional disorders, schizophrenia, and sometimes in severe mood disorders. These memories can be completely fabricated or have a basis in an actual event that has been grossly misinterpreted or altered by the individual's mind. 2023-07-28T13:55:40Z Retrospective delusion human_phenotype HP:5200409 Delusional memory HP:5200409 The condition is characterized by the inability to recognize spoken languages and/or nonverbal environmental sounds and music, despite having adequate hearing. However, spontaneous speech, reading, and writing abilities remain intact. 2023-07-28T13:55:40Z human_phenotype HP:5200410 Auditory agnosia HP:5200410 People cannot identify tastes, even though they can experience them. 2023-07-28T13:55:40Z human_phenotype HP:5200411 Gustatory agnosia HP:5200411 Referral of a sensory stimulus from one side of the body to the other. 2023-07-28T13:55:40Z human_phenotype HP:5200412 Allesthesia HP:5200412 The loss of the ability to localize, recognize, or identify specific parts of one's body. 2023-07-28T13:55:40Z human_phenotype HP:5200413 Autotopagnosia HP:5200413 False beliefs (or judgements) that are held with extraordinary conviction and subjective certainty that are impervious to other experiences or counterarguments and the content is generally considered impossible for the context and circumstance. Delusional beliefs may arise meaningfully from personal or social experiences, yet are impossible, held with conviction, and irrefutable; more commonly they may be psychologically irreducible, appearing with no logical or meaningful connection to the individual experience. 2023-07-28T13:55:40Z Delusion of persecution human_phenotype HP:5200415 Persecutory delusions are differentiated from paranoia by the intensity and fixation of the persecutory delusion. Paranoia may be a diffuse or vague suspicion of untoward intent that may be reasoned with, whereas the persecutory delusion is more likely to be specific and impervious to logic. Persecutory delusion HP:5200415 A disorder of delusional content wherein the affected individual believes they are a victim of their partner's infidelity. It is often based on delusional evidence of an erotic or romantic nature. There may be an affective (mood related) component or may be associated with substance use disorders. It may also occur on its own. There may be associated behaviors to monitor or gather evidence of the perceived infidelity. 2023-07-28T13:55:40Z Delusion of infidelity Pathological jealousy human_phenotype HP:5200416 Morbid jealousy HP:5200416 Delusional beliefs of a fantastical, expansive, or supernatural quality related to power, ability, wealth, or station. They are often related to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies). Grandiose delusions may be related to affective states, substance use, or may occur independently. 2023-07-28T13:55:40Z Megalomania human_phenotype HP:5200417 Grandiose delusion HP:5200417 Delusional beliefs are transmitted from one individual to another. 2023-07-28T13:55:40Z Shared psychosis human_phenotype HP:5200418 Folie à deux HP:5200418 A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors. 2023-07-28T13:55:40Z Delusion of control human_phenotype HP:5200419 Disorder of thought control HP:5200419 A delusional belief that the person is secretly loved by another individual who is often of recognized fame or authoratative significance. There is typically no overt evidence and the delusional belief may be driven by falsely perceived indicators. Often there is a blend of erotic delusions and morbid infatuation. 2023-07-28T13:55:40Z De Clérambault syndrome Erotomania Psychose passionelle human_phenotype HP:5200420 Delusion of love HP:5200420 A delusion that elements of the self, body, or world no longer exist. The person typically recognizes that the entity did in fact exist at one time, but has ceased to exist. The cause of which may be related to disease, decay, or may have been removed or taken by unknown forces. 2023-07-28T13:55:40Z human_phenotype HP:5200421 Nihilistic delusion HP:5200421 A false belief that you or your body parts are dead, dying, or do not exist. 2023-07-28T13:55:40Z Cotard syndrome human_phenotype HP:5200422 Cotard delusion HP:5200422 Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences. 2023-07-28T13:55:40Z human_phenotype HP:5200423 Abnormal experiences of reality can range from rare perceptions, such as hallucinations or delusions, to more common experiences, such as subtle misinterpretations of events, like cognitive distortions. Abnormal experience of reality HP:5200423 A true perception, to which a patient attributes a false and usually bizarre meaning or interpretation. It is often a revelatory experience that is sudden and is a profound realization of the delusional belief. It often occurs in the context of delusional mood or atmosphere wherein vague and mysterious hunches or concerns with nebulous meaning evolve into clear, delusional observations, and expresses delusions of reference. 2023-07-28T13:55:40Z human_phenotype HP:5200424 Delusional perception HP:5200424 Delusion quality to belief that one is suffering from an illness despite reassurances based on medical examination and testing. The person may (or not) express pain or discomfort that they attribute to the disease. They are frequently treatment seeking, but do not induce illness features (which is termed Munchhausen syndrome). 2023-07-28T13:55:40Z human_phenotype Munchhausen syndrome HP:5200425 Hypochondriac delusion HP:5200425 A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present. 2023-07-28T13:55:40Z Ekbom's syndrome human_phenotype HP:5200426 This may occur in conjunction with tactile hallucinations of bugs or insects crawling on one's skin and is related to substance use disorders (delirium tremens). Delusions of infestation HP:5200426 A persistent sense or a hunch that something is different in an imperceptible manner. Typically the perception is one of a sinister, portentous , uncanny, mysterious, or peculiar sense of foreboding in an indefinable way. There is an innate sense of inexplicable self-relevance to the person. There is often a feeling of anticipation, sometimes even excitement, that soon the mystery may be revealed and all the separate parts of their experience will fit together to reveal something immensely significant. The duration of this experience may vary, lasting from hours to days. It may be intermittent over an extended period of time (months to years). 2023-07-28T13:55:40Z Delusional mood human_phenotype HP:5200427 Delusional atmosphere HP:5200427 A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced. The majority of misidentifications are spouses or first degree relatives, i.e. someone well-known to the person. 2023-07-28T13:55:40Z human_phenotype HP:5200428 Delusional misidentification HP:5200428 Delusions with a religious content that are considered delusional in nature based on how the belief is held and the evidence offered to support it, which is generally considered impossible or fantastical in the cultural setting of the person. It differs from unusual beliefs that are held with tenacity or conviction and are typically associated with other phenomena consistent with mental illness. 2023-07-28T13:55:40Z human_phenotype HP:5200429 Religious delusion HP:5200429 Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. 2023-08-03T14:20:59Z human_phenotype HP:5200430 Abnormal psychotic pattern HP:5200430 Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity. 2023-03-27T09:34:27Z human_phenotype HP:5201000 Please use this term only when the cleft lip is unilateral, ie occurring only on one side. Incomplete unilateral cleft lip HP:5201000 Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity. PMID:21331089 PMID:26171570 Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity. 2023-03-27T09:34:27Z human_phenotype HP:5201001 Please use this term only when the cleft lip is unilateral, ie occurring only on one side. Complete unilateral cleft lip HP:5201001 Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity. PMID:21331089 PMID:26171570 Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle. 2023-03-27T09:34:27Z human_phenotype HP:5201002 Please use this term only when the cleft lip is unilateral, ie occurring only on one side. Microform unilateral cleft lip HP:5201002 Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle. PMID:21331089 PMID:26171570 PMID:33729631 Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate. 2023-03-27T09:34:27Z human_phenotype HP:5201003 Complete cleft hard palate HP:5201003 Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate. PMID:21331089 PMID:26171570 Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate. 2023-03-27T09:34:27Z human_phenotype HP:5201004 Incomplete cleft hard palate HP:5201004 Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate. PMID:21331089 PMID:26171570 Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula. 2023-03-27T09:34:27Z human_phenotype HP:5201005 Complete cleft soft palate HP:5201005 Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula. PMID:21331089 PMID:26171570 Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula. 2023-03-27T09:34:27Z human_phenotype HP:5201006 Incomplete cleft soft palate HP:5201006 Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula. PMID:21331089 PMID:26171570 Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge. 2023-03-27T09:34:27Z human_phenotype HP:5201007 Incomplete cleft maxillary alveolar ridge HP:5201007 Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge. PMID:21331089 PMID:26171570 Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge. 2023-03-27T09:34:27Z human_phenotype HP:5201008 Complete cleft maxillary alveolar ridge HP:5201008 Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge. PMID:21331089 PMID:26171570 Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity. 2023-04-03T11:33:58Z human_phenotype HP:5201009 If the cleft lip is on only one side, use 'Complete unilateral cleft lip' (HP:5201001). This term was created to be used in association with a left (HP:0012835) or right (HP:0012834) modifier to annotate completeness of a cleft lip. Complete cleft of the upper lip HP:5201009 Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity. PMID:21331089 PMID:26171570 PMID:33729631 Notch, groove, or scar of the upper lip without noticeable rupture of the lip. 2023-04-03T11:33:58Z human_phenotype HP:5201010 If the cleft lip is on only one side, use 'Microform unilateral cleft lip' (HP:5201002). This term was created to be used in association with a left (HP:0012835) or right (HP:0012834) modifier to annotate completeness of a cleft lip. Microform cleft of the upper lip HP:5201010 Notch, groove, or scar of the upper lip without noticeable rupture of the lip. PMID:21331089 PMID:26171570 PMID:33729631 Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity. 2023-04-03T11:33:58Z human_phenotype HP:5201011 Complete bilateral cleft lip HP:5201011 Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity. PMID:19884685 Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side. 2023-04-03T11:33:58Z human_phenotype HP:5201012 Incomplete bilateral cleft lip HP:5201012 Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side. PMID:19884685 Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip. 2023-04-03T11:33:58Z human_phenotype HP:5201013 Microform bilateral cleft lip HP:5201013 Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip. PMID:19884685 Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip). 2023-04-03T11:33:58Z human_phenotype HP:5201014 Consider making additional annotations to specify the type of cleft lip on each side using 'Complete cleft of the upper lip' (HP:5201009), 'Incomplete cleft of the upper lip' (HP:0011340), and/or 'Microform cleft of the upper lip' (HP:5201010). Asymmetric bilateral cleft lip HP:5201014 Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip). PMID:19884685 Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. 2023-12-13T13:15:11Z human_phenotype HP:5201015 Craniofacial cleft HP:5201015 Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw. https://orcid.org/0000-0002-4142-7153 A cleft of the muscular portion of the palate that is covered by mucous membrane. 2023-12-13T13:15:11Z Submucosal cleft palate Submucous clefting human_phenotype HP:5201016 Submucous cleft palate HP:5201016 A cleft of the muscular portion of the palate that is covered by mucous membrane. PMID:21112097 https://orcid.org/0000-0002-4142-7153 Increased susceptibility to bacterial infections as manifested by recurrent or severe/invasive bacterial infection, or by bacterial infection in an unusual anatomical location. Unusual susceptibility to bacterial infection human_phenotype HP:5210000 Unusual bacterial infection HP:5210000 Increased susceptibility to gram-positive bacterial infections as manifested by recurrent or severe/invasive infection with gram-positive organisms. Unusual gram-positive bacterial infection human_phenotype HP:5210001 Unusual gram-positive bacterial infection HP:5210001 Increased susceptibility to gram-negative bacterial infections as manifested by recurrent or severe/invasive infection with gram-negative organisms. Unusual gram-negative bacterial infection human_phenotype HP:5210002 Unusual gram-negative bacterial infection HP:5210002 Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent or severe/invasive infection with Staphylococcus aureus, or by Staphylococcus aureus infection occurring in an unusual anatomical location. Unusual susceptibility to Staphylococcus aureus human_phenotype HP:5210003 Unusual Staphylococcus aureus infection HP:5210003 Increased susceptibility to Staphylococcus aureus infections as manifested by a severe or invasive infection with Staphylococcus aureus. Disseminated staphylococcus aureus infection Invasive staphylococcus aureus infection human_phenotype HP:5210004 Severe Staphylococcus aureus infection HP:5210004 An absence of total immunoglobulin A (IgA) in the circulation that persists for more than 6 months. https://orcid.org/0000-0003-4311-3550 2026-04-29T08:48:55Z undetactable IgA PMID:34364731 PMID:37641141 Chronic absent circulating IgA level Total IgA deficiency human_phenotype HP:5210005 Chronic absent circulating IgA HP:5210005 Increased susceptibility to Enterococcus infections as manifested by recurrent or severe/invasive infection with Enterococcus, or by Enterococcus infection occurring in an unusual anatomical location. human_phenotype HP:5210006 Unusual Enterococcus infection HP:5210006 Increased susceptibility to Enterococcus infections as manifested by a severe or invasive infection with Enterococcus. Disseminated enterococcal infection Invasive enterococcal infection human_phenotype HP:5210007 Severe Enterococcus infection HP:5210007 Increased susceptibility to Enterococcus infections as manifested by recurrent episodes of Enterococcus infection. Chronic enterococcal infection Persistent enterococcus infection Recurrent enterococcal infection human_phenotype HP:5210008 Recurrent Enterococcus infection HP:5210008 Increased susceptibility to Streptococcus infections as manifested by recurrent or severe/invasive infection with Streptococcus, or by Streptococcus infection occurring in an unusual anatomical location. Unusual streptococcal infection human_phenotype HP:5210009 Unusual Streptococcus infection HP:5210009 Increased susceptibility to Streptococcus pneumoniae infections as manifested by recurrent or severe/invasive infection with Streptococcus pneumoniae, or by Streptococcus pneumoniae infection occurring in an unusual anatomical location. Unusual pneumococcal infection Unusual susceptibility to pneumococcus human_phenotype HP:5210010 Unusual Streptococcus pneumoniae infection HP:5210010 Increased susceptibility to Streptococcus pneumoniae infections as manifested by a severe or invasive infection with Streptococcus pneumoniae. Disseminated pneumococcal infection Invasive pneumococcal disease human_phenotype HP:5210011 Severe Streptococcus pneumoniae infection HP:5210011 Increased susceptibility to Streptococcus pneumoniae infections as manifested by recurrent episodes of Streptococcus pneumoniae infection. Chronic pneumococcal infection Persistent pneumococcal infection Recurrent pneumococcal infection human_phenotype HP:5210012 Recurrent Streptococcus pneumoniae infection HP:5210012 Increased susceptibility to Streptococcus pyogenes infections as manifested by recurrent or severe/invasive infection with Streptococcus pyogenes, or by Streptococcus pyogenes infection occurring in an unusual anatomical location. Unusual GAS infection Unusual Group A streptococcal infection human_phenotype HP:5210013 Unusual Streptococcus pyogenes infection HP:5210013 Increased susceptibility to Streptococcus pyogenes infections as manifested by a severe or invasive infection with Streptococcus pyogenes. Disseminated Streptococcus pyogenes infection Invasive Group A streptococcal infection human_phenotype HP:5210014 Severe Streptococcus pyogenes infection HP:5210014 Increased susceptibility to Streptococcus pyogenes infections as manifested by recurrent episodes of Streptococcus pyogenes infection. Chronic Streptococcus pyogenes infection Persistent Streptococcus pyogenes infection Recurrent Group A streptococcal infection human_phenotype HP:5210015 Recurrent Streptococcus pyogenes infection HP:5210015 Increased susceptibility to Streptococcus agalactiae infections as manifested by recurrent or severe/invasive infection with Streptococcus agalactiae, or by Streptococcus agalactiae infection occurring in an unusual anatomical location. Unusual GBS infection Unusual Group B streptococcal infection human_phenotype HP:5210016 Unusual Streptococcus agalactiae infection HP:5210016 Increased susceptibility to Streptococcus agalactiae infections as manifested by a severe or invasive infection with Streptococcus agalactiae. Disseminated Streptococcus agalactiae infection Invasive Group B streptococcal infection human_phenotype HP:5210017 Severe Streptococcus agalactiae infection HP:5210017 Increased susceptibility to Streptococcus agalactiae infections as manifested by recurrent episodes of Streptococcus agalactiae infection. Chronic Streptococcus agalactiae infection Persistent Streptococcus agalactiae infection Recurrent Group B streptococcal infection human_phenotype HP:5210018 Recurrent Streptococcus agalactiae infection HP:5210018 Increased susceptibility to Listeria infections as manifested by recurrent or severe/invasive infection with Listeria, or by Listeria infection occurring in an unusual anatomical location. Unusual listeriosis human_phenotype HP:5210019 Unusual Listeria infection HP:5210019 Increased susceptibility to Listeria infections as manifested by a severe or invasive infection with Listeria. Disseminated listeriosis Invasive listeriosis human_phenotype HP:5210020 Severe Listeria infection HP:5210020 Increased susceptibility to Listeria infections as manifested by recurrent episodes of Listeria infection. Chronic listeriosis Persistent listeria infection Recurrent listeriosis human_phenotype HP:5210021 Recurrent Listeria infection HP:5210021 Increased susceptibility to Nocardia infections as manifested by recurrent or severe/invasive infection with Nocardia, or by Nocardia infection occurring in an unusual anatomical location. Unusual nocardiosis human_phenotype HP:5210022 Unusual Nocardia infection HP:5210022 Increased susceptibility to Nocardia infections as manifested by a severe or invasive infection with Nocardia. Disseminated nocardiosis Invasive nocardiosis human_phenotype HP:5210023 Severe Nocardia infection HP:5210023 Increased susceptibility to Nocardia infections as manifested by recurrent episodes of Nocardia infection. Chronic nocardiosis Persistent nocardia infection Recurrent nocardiosis human_phenotype HP:5210024 Recurrent Nocardia infection HP:5210024 Increased susceptibility to Actinomyces infections as manifested by recurrent or severe/invasive infection with Actinomyces, or by Actinomyces infection occurring in an unusual anatomical location. Unusual actinomycosis human_phenotype HP:5210025 Unusual Actinomyces infection HP:5210025 Increased susceptibility to Actinomyces infections as manifested by a severe or invasive infection with Actinomyces. Disseminated actinomycosis Invasive actinomycosis human_phenotype HP:5210026 Severe Actinomyces infection HP:5210026 Increased susceptibility to Actinomyces infections as manifested by recurrent episodes of Actinomyces infection. Chronic actinomycosis Persistent actinomyces infection Recurrent actinomycosis human_phenotype HP:5210027 Recurrent Actinomyces infection HP:5210027 Increased susceptibility to Clostridium infections as manifested by recurrent or severe/invasive infection with Clostridium, or by Clostridium infection occurring in an unusual anatomical location. Unusual clostridial infection human_phenotype HP:5210028 Unusual Clostridium infection HP:5210028 Increased susceptibility to Clostridium infections as manifested by a severe or invasive infection with Clostridium. Disseminated clostridial infection Invasive clostridial infection human_phenotype HP:5210029 Severe Clostridium infection HP:5210029 Increased susceptibility to Clostridium infections as manifested by recurrent episodes of Clostridium infection. Chronic clostridial infection Persistent clostridium infection Recurrent clostridial infection human_phenotype HP:5210030 Recurrent Clostridium infection HP:5210030 A reduction in the total concentration of immunoglobulin M (IgM) in the circulation that persists for more than 6 months. 2026-04-29T08:53:31Z PMID:28984901 PMID:37685399 Chronic decreased circulating IgM level partial IgM deficiency human_phenotype HP:5210031 Chronic decreased circulating IgM concentration HP:5210031 An absence of total immunoglobulin M (IgM) in the circulation that persists for more than 6 months. https://orcid.org/0000-0002-0418-7381 https://orcid.org/0000-0002-3356-9506 https://orcid.org/0000-0003-1055-2063 https://orcid.org/0000-0003-4311-3550 2026-04-29T09:00:44Z undetectable IgM PMID:28984901 PMID:37685399 Chronic absent circulating IgM level total IgM deficiency human_phenotype HP:5210032 Chronic absent circulating IgM HP:5210032 A temporary reduction in the total concentration of immunoglobulin M (IgM) in the circulation that is documented at one or more time points but subsequently normalizes on follow-up measurement. https://orcid.org/0000-0002-0418-7381 https://orcid.org/0000-0002-3356-9506 https://orcid.org/0000-0003-1055-2063 https://orcid.org/0000-0003-4311-3550 2026-04-29T09:05:55Z PMID:28984901 PMID:37685399 transient IgM deficiency human_phenotype HP:5210033 Transient decreases in circulating IgM concentration have been observed particularly in infants and young children. The distinction from persistent selective IgM deficiency requires serial measurement of serum IgM levels over time. A single low IgM value does not establish persistence, and the majority of individuals with an isolated low IgM measurement do not have persistent deficiency. Transient decreased circulating IgM concentration HP:5210033 Complete or near-complete absence of specific antibody production measured 4 to 6 weeks following vaccination with the unconjugated Salmonella typhi vaccine. https://orcid.org/0000-0002-0418-7381 https://orcid.org/0000-0002-3356-9506 https://orcid.org/0000-0003-1055-2063 https://orcid.org/0000-0003-4311-3550 2026-04-29T09:10:23Z PMID:31001267 PMID:39245584 total specific polysaccharide antibody deficiency to Typhim Vi human_phenotype HP:5210034 Complete or near-complete absence of specific antibody response to unconjugated Salmonella typhi vaccine HP:5210034 Partial absence of specific antibody production following vaccination with unconjugated Salmonella typhi vaccine. https://orcid.org/0000-0002-0418-7381 https://orcid.org/0000-0002-3356-9506 https://orcid.org/0000-0003-1055-2063 https://orcid.org/0000-0003-4311-3550 2026-04-29T09:22:34Z PMID:31001267 PMID:39245584 partial specific polysaccharide antibody deficiency to Typhim Vi human_phenotype HP:5210035 Partial absence of specific antibody response to unconjugated Salmonella typhi vaccine HP:5210035 The concentration in the blood circulation of specific immunoglobulins directed against the capsular polysaccharide of Haemophilus influenzae type b is below the lower limit of normal. 2026-04-30T16:29:30Z PMID:28379361 PMID:3259962 PMID:9356808 Decreased specific Haemophilus influenzae type b antibody level Low Hib antibody titer Specific Haemophilus influenzae type b antibody deficiency human_phenotype HP:5210036 Selective deficiency of anti-Haemophilus influenzae type b capsular polysaccharide antibodies can occur in the presence of normal total immunoglobulin levels and normal IgG subclasses. It is associated with recurrent sinopulmonary infections and invasive Hib disease including meningitis and septicemia. Decreased circulating specific Haemophilus influenzae type b antibody concentration HP:5210036 Increased susceptibility to Shigella infections as manifested by recurrent or severe/invasive infection with Shigella, or by Shigella infection occurring in an unusual anatomical location. Unusual infection with Shigella species Unusual infection with Shigella spp human_phenotype HP:5210037 Unusual Shigella infection HP:5210037 Increased susceptibility to Shigella infections as manifested by a severe or invasive infection with Shigella. Disseminated Shigella infection Invasive Shigella infection Severe infection with Shigella species Severe infection with Shigella spp human_phenotype HP:5210038 Severe Shigella infection HP:5210038 Increased susceptibility to Shigella infections as manifested by recurrent episodes of Shigella infection. Chronic Shigella infection Persistent Shigella infection Recurrent infection with Shigella species Recurrent infection with Shigella spp human_phenotype HP:5210039 Recurrent Shigella infection HP:5210039 Increased susceptibility to Klebsiella infections as manifested by recurrent or severe/invasive infection with Klebsiella, or by Klebsiella infection occurring in an unusual anatomical location. Unusual infection with Klebsiella species Unusual infection with Klebsiella spp human_phenotype HP:5210040 Unusual Klebsiella infection HP:5210040 Increased susceptibility to Klebsiella infections as manifested by a severe or invasive infection with Klebsiella. Disseminated Klebsiella infection Invasive Klebsiella infection Severe infection with Klebsiella species Severe infection with Klebsiella spp human_phenotype HP:5210041 Severe Klebsiella infection HP:5210041 Increased susceptibility to Enterobacter infections as manifested by recurrent or severe/invasive infection with Enterobacter, or by Enterobacter infection occurring in an unusual anatomical location. Unusual infection with Enterobacter species Unusual infection with Enterobacter spp human_phenotype HP:5210043 Unusual Enterobacter infection HP:5210043 Increased susceptibility to Enterobacter infections as manifested by a severe or invasive infection with Enterobacter. Disseminated Enterobacter infection Invasive Enterobacter infection Severe infection with Enterobacter species Severe infection with Enterobacter spp human_phenotype HP:5210044 Severe Enterobacter infection HP:5210044 Increased susceptibility to Enterobacter infections as manifested by recurrent episodes of Enterobacter infection. Chronic Enterobacter infection Persistent Enterobacter infection Recurrent infection with Enterobacter species Recurrent infection with Enterobacter spp human_phenotype HP:5210045 Recurrent Enterobacter infection HP:5210045 Increased susceptibility to Serratia infections as manifested by recurrent or severe/invasive infection with Serratia, or by Serratia infection occurring in an unusual anatomical location. Unusual infection with Serratia species Unusual infection with Serratia spp human_phenotype HP:5210046 Unusual Serratia infection HP:5210046 Increased susceptibility to Serratia infections as manifested by a severe or invasive infection with Serratia. Disseminated Serratia infection Invasive Serratia infection Severe infection with Serratia species Severe infection with Serratia spp human_phenotype HP:5210047 Severe Serratia infection HP:5210047 Increased susceptibility to Proteus infections as manifested by recurrent or severe/invasive infection with Proteus, or by Proteus infection occurring in an unusual anatomical location. Unusual infection with Proteus species Unusual infection with Proteus spp human_phenotype HP:5210049 Unusual Proteus infection HP:5210049 Increased susceptibility to Proteus infections as manifested by a severe or invasive infection with Proteus. Disseminated Proteus infection Invasive Proteus infection Severe infection with Proteus species Severe infection with Proteus spp human_phenotype HP:5210050 Severe Proteus infection HP:5210050 Increased susceptibility to Proteus infections as manifested by recurrent episodes of Proteus infection. Chronic Proteus infection Persistent Proteus infection Recurrent infection with Proteus species Recurrent infection with Proteus spp human_phenotype HP:5210051 Recurrent Proteus infection HP:5210051 Increased susceptibility to Citrobacter infections as manifested by recurrent or severe/invasive infection with Citrobacter, or by Citrobacter infection occurring in an unusual anatomical location. Unusual infection with Citrobacter species Unusual infection with Citrobacter spp human_phenotype HP:5210052 Unusual Citrobacter infection HP:5210052 Increased susceptibility to Citrobacter infections as manifested by a severe or invasive infection with Citrobacter. Disseminated Citrobacter infection Invasive Citrobacter infection Severe infection with Citrobacter species Severe infection with Citrobacter spp human_phenotype HP:5210053 Severe Citrobacter infection HP:5210053 Increased susceptibility to Citrobacter infections as manifested by recurrent episodes of Citrobacter infection. Chronic Citrobacter infection Persistent Citrobacter infection Recurrent infection with Citrobacter species Recurrent infection with Citrobacter spp human_phenotype HP:5210054 Recurrent Citrobacter infection HP:5210054 Increased susceptibility to Pseudomonas aeruginosa infections as manifested by recurrent or severe/invasive infection with Pseudomonas aeruginosa, or by Pseudomonas aeruginosa infection occurring in an unusual anatomical location. human_phenotype HP:5210055 Unusual Pseudomonas aeruginosa infection HP:5210055 Increased susceptibility to Pseudomonas aeruginosa infections as manifested by a severe or invasive infection with Pseudomonas aeruginosa. Disseminated pseudomonal infection Invasive Pseudomonas aeruginosa infection human_phenotype HP:5210056 Severe Pseudomonas aeruginosa infection HP:5210056 Increased susceptibility to Pseudomonas aeruginosa infections as manifested by recurrent episodes of Pseudomonas aeruginosa infection. Chronic pseudomonal infection Persistent Pseudomonas aeruginosa infection Recurrent Pseudomonas aeruginosa infection human_phenotype HP:5210057 Recurrent Pseudomonas aeruginosa infection HP:5210057 Increased susceptibility to Acinetobacter baumannii infections as manifested by recurrent or severe/invasive infection with Acinetobacter baumannii, or by Acinetobacter baumannii infection occurring in an unusual anatomical location. human_phenotype HP:5210058 Unusual Acinetobacter baumannii infection HP:5210058 Increased susceptibility to Acinetobacter baumannii infections as manifested by a severe or invasive infection with Acinetobacter baumannii. Disseminated Acinetobacter infection Invasive Acinetobacter baumannii infection human_phenotype HP:5210059 Severe Acinetobacter baumannii infection HP:5210059 Increased susceptibility to Acinetobacter baumannii infections as manifested by recurrent episodes of Acinetobacter baumannii infection. Chronic Acinetobacter baumannii infection Persistent Acinetobacter baumannii infection Recurrent Acinetobacter baumannii infection human_phenotype HP:5210060 Recurrent Acinetobacter baumannii infection HP:5210060 Increased susceptibility to Legionella pneumophila infections as manifested by recurrent or severe/invasive infection with Legionella pneumophila, or by Legionella pneumophila infection occurring in an unusual anatomical location. human_phenotype HP:5210061 Unusual Legionella pneumophila infection HP:5210061 Increased susceptibility to Legionella pneumophila infections as manifested by a severe or invasive infection with Legionella pneumophila. Disseminated Legionella infection Invasive Legionella infection Severe legionellosis human_phenotype HP:5210062 Severe Legionella pneumophila infection HP:5210062 Increased susceptibility to Legionella pneumophila infections as manifested by recurrent episodes of Legionella pneumophila infection. Chronic Legionella pneumophila infection Persistent Legionella pneumophila infection Recurrent legionellosis human_phenotype HP:5210063 Recurrent Legionella pneumophila infection HP:5210063 Increased susceptibility to Neisseria gonorrhoeae infections as manifested by recurrent or severe/invasive infection with Neisseria gonorrhoeae, or by Neisseria gonorrhoeae infection occurring in an unusual anatomical location. human_phenotype HP:5210064 Unusual Neisseria gonorrhoeae infection HP:5210064 Increased susceptibility to Neisseria gonorrhoeae infections as manifested by a severe or invasive infection with Neisseria gonorrhoeae. Disseminated gonococcal infection Invasive gonococcal infection human_phenotype HP:5210065 Severe Neisseria gonorrhoeae infection HP:5210065 Increased susceptibility to Neisseria gonorrhoeae infections as manifested by recurrent episodes of Neisseria gonorrhoeae infection. Chronic gonococcal infection Persistent Neisseria gonorrhoeae infection Recurrent gonococcal infection human_phenotype HP:5210066 Recurrent Neisseria gonorrhoeae infection HP:5210066 Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent or severe/invasive infection with Neisseria meningitidis, or by Neisseria meningitidis infection occurring in an unusual anatomical location. human_phenotype HP:5210067 Neisseria meningitidis, one of the most common causes of bacterial meningitis, is also known as meningococcus. Unusual Neisseria meningitidis infection HP:5210067 Increased susceptibility to Neisseria meningitidis infections as manifested by a severe or invasive infection with Neisseria meningitidis. Disseminated meningococcal infection Invasive meningococcal disease human_phenotype HP:5210068 Neisseria meningitidis, one of the most common causes of bacterial meningitis, is also known as meningococcus. Severe Neisseria meningitidis infection HP:5210068 Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent or severe/invasive infection with Haemophilus influenzae, or by Haemophilus influenzae infection occurring in an unusual anatomical location. human_phenotype HP:5210070 Unusual Haemophilus influenzae infection HP:5210070 Increased susceptibility to Haemophilus influenzae infections as manifested by a severe or invasive infection with Haemophilus influenzae. Disseminated H. influenzae infection Invasive Haemophilus influenzae infection human_phenotype HP:5210071 Severe Haemophilus influenzae infection HP:5210071 Increased susceptibility to Moraxella catarrhalis infections as manifested by recurrent or severe/invasive infection with Moraxella catarrhalis, or by Moraxella catarrhalis infection occurring in an unusual anatomical location. human_phenotype HP:5210073 Unusual Moraxella catarrhalis infection HP:5210073 Increased susceptibility to Moraxella catarrhalis infections as manifested by a severe or invasive infection with Moraxella catarrhalis. Disseminated Moraxella catarrhalis infection Invasive Moraxella catarrhalis infection human_phenotype HP:5210074 Severe Moraxella catarrhalis infection HP:5210074 Increased susceptibility to Moraxella catarrhalis infections as manifested by recurrent episodes of Moraxella catarrhalis infection. Chronic Moraxella catarrhalis infection Persistent Moraxella catarrhalis infection Recurrent Moraxella catarrhalis infection human_phenotype HP:5210075 Recurrent Moraxella catarrhalis infection HP:5210075 Increased susceptibility to Vibrio cholerae infections as manifested by recurrent or severe/invasive infection with Vibrio cholerae, or by Vibrio cholerae infection occurring in an unusual anatomical location. human_phenotype HP:5210076 Unusual Vibrio cholerae infection HP:5210076 Increased susceptibility to Vibrio cholerae infections as manifested by a severe or invasive infection with Vibrio cholerae. Disseminated Vibrio cholerae infection Invasive Vibrio cholerae infection Severe cholera human_phenotype HP:5210077 Severe Vibrio cholerae infection HP:5210077 Increased susceptibility to Vibrio cholerae infections as manifested by recurrent episodes of Vibrio cholerae infection. Chronic vibrio cholerae infection Persistent vibrio cholerae infection Recurrent cholera human_phenotype HP:5210078 Recurrent Vibrio cholerae infection HP:5210078 Increased susceptibility to Burkholderia cepacia infections as manifested by recurrent or severe/invasive infection with Burkholderia cepacia, or by Burkholderia cepacia infection occurring in an unusual anatomical location. human_phenotype HP:5210079 Unusual Burkholderia cepacia infection HP:5210079 Increased susceptibility to Burkholderia cepacia infections as manifested by a severe or invasive infection with Burkholderia cepacia. Disseminated Burkholderia cepacia infection Invasive Burkholderia cepacia infection human_phenotype HP:5210080 Severe Burkholderia cepacia infection HP:5210080 Increased susceptibility to Bacteroides infections as manifested by recurrent or severe/invasive infection with Bacteroides, or by Bacteroides infection occurring in an unusual anatomical location. Unusual infection with Bacteroides species Unusual infection with Bacteroides spp human_phenotype HP:5210082 Unusual Bacteroides infection HP:5210082 Increased susceptibility to Bacteroides infections as manifested by a severe or invasive infection with Bacteroides. Disseminated Bacteroides infection Invasive Bacteroides infection Severe infection with Bacteroides species Severe infection with Bacteroides spp human_phenotype HP:5210083 Severe Bacteroides infection HP:5210083 Increased susceptibility to Bacteroides infections as manifested by recurrent episodes of Bacteroides infection. Chronice Bacteroides infection Persistent Bacteroides infection Recurrent infection with Bacteroides species Recurrent infection with Bacteroides spp human_phenotype HP:5210084 Recurrent Bacteroides infection HP:5210084 Increased susceptibility to Fusobacterium infections as manifested by recurrent or severe/invasive infection with Fusobacterium, or by Fusobacterium infection occurring in an unusual anatomical location. Unusual infection with Fusobacterium species Unusual infection with Fusobacterium spp human_phenotype HP:5210085 Unusual Fusobacterium infection HP:5210085 Increased susceptibility to Fusobacterium infections as manifested by a severe or invasive infection with Fusobacterium. Disseminated Fusobacterium infection Invasive Fusobacterium infection Severe infection with Fusobacterium species Severe infection with Fusobacterium spp human_phenotype HP:5210086 Severe Fusobacterium infection HP:5210086 Increased susceptibility to Fusobacterium infections as manifested by recurrent episodes of Fusobacterium infection. Chronic Fusobacterium infection Persistent Fusobacterium infection Recurrent infection with Fusobacterium species Recurrent infection with Fusobacterium spp human_phenotype HP:5210087 Recurrent Fusobacterium infection HP:5210087 Increased susceptibility to Prevotella infections as manifested by recurrent or severe/invasive infection with Prevotella, or by Prevotella infection occurring in an unusual anatomical location. Unusual infection with Prevotella species Unusual infection with Prevotella spp human_phenotype HP:5210088 Unusual Prevotella infection HP:5210088 Increased susceptibility to Prevotella infections as manifested by a severe or invasive infection with Prevotella. Disseminated Prevotella infection Invasive Prevotella infection Severe infection with Prevotella species Severe infection with Prevotella spp human_phenotype HP:5210089 Severe Prevotella infection HP:5210089 Increased susceptibility to Prevotella infections as manifested by recurrent episodes of Prevotella infection. Chronic Prevotella infection Persistent Prevotella infection Recurrent infection with Prevotella species Recurrent infection with Prevotella spp human_phenotype HP:5210090 Recurrent Prevotella infection HP:5210090 Increased susceptibility to Escherichia coli infections as manifested by recurrent or severe/invasive infection with Escherichia coli, or by Escherichia coli infection occurring in an unusual anatomical location. Unusual infection with E. coli human_phenotype HP:5210091 Unusual Escherichia coli infection HP:5210091 Increased susceptibility to Escherichia coli infections as manifested by a severe or invasive infection with Escherichia coli. Disseminated E. coli infection Invasive E. coli infection Severe E. coli infection human_phenotype HP:5210092 Severe Escherichia coli infection HP:5210092 Increased susceptibility to Salmonella infections as manifested by recurrent or severe/invasive infection with Salmonella, or by Salmonella infection occurring in an unusual anatomical location. Unusual infection with Salmonella species Unusual infection with Salmonella spp human_phenotype HP:5210093 Unusual Salmonella infection HP:5210093 Increased susceptibility to Salmonella infections as manifested by a severe or invasive infection with Salmonella. Disseminated Salmonella infection Invasive Salmonella infection Severe infection with Salmonella species Severe infection with Salmonella spp human_phenotype HP:5210094 Severe Salmonella infection HP:5210094 Increased susceptibility to Salmonella infections as manifested by recurrent episodes of Salmonella infection. Chronic Salmonella infection Persistent Salmonella infection Recurrent infection with Salmonella species Recurrent infection with Salmonella spp human_phenotype HP:5210095 Recurrent Salmonella infection HP:5210095 Increased susceptibility to Pneumocystis jirovecii infections as manifested by recurrent or severe/invasive infection with Pneumocystis jirovecii, or by Pneumocystis jirovecii infection occurring in an unusual anatomical location. Unusual PCP infection Unusual Pneumocystis jiroveci infection human_phenotype HP:5210096 Unusual Pneumocystis jirovecii infection HP:5210096 Increased susceptibility to Pneumocystis jirovecii infections as manifested by a severe or invasive infection with Pneumocystis jirovecii. Disseminated Pneumocystis jirovecii infection Invasive Pneumocystis jirovecii infection human_phenotype HP:5210097 Severe Pneumocystis jirovecii infection HP:5210097 Increased susceptibility to Pneumocystis jirovecii infections as manifested by recurrent episodes of Pneumocystis jirovecii infection. Chronic Pneumocystis jirovecii infection Persistent Pneumocystis jirovecii infection Recurrent PCP Recurrent Pneumocystis jirovecii infection human_phenotype HP:5210098 Recurrent Pneumocystis jirovecii infection HP:5210098 Increased susceptibility to Aspergillus infections as manifested by recurrent or severe/invasive infection with Aspergillus, or by Aspergillus infection occurring in an unusual anatomical location. Unusual aspergillosis human_phenotype HP:5210099 Unusual Aspergillus infection HP:5210099 Increased susceptibility to Aspergillus infections as manifested by a severe or invasive infection with Aspergillus. Disseminated aspergillosis Invasive aspergillosis human_phenotype HP:5210100 Severe Aspergillus infection HP:5210100 Increased susceptibility to adenovirus infections as manifested by recurrent or severe/invasive infection with adenovirus, or occurring in an unusual anatomical location. Unusual susceptibility to adenovirus human_phenotype HP:5210101 Unusual adenovirus infection HP:5210101 Increased susceptibility to Candida infections as manifested by recurrent or severe/invasive infection with Candida, or by Candida infection occurring in an unusual anatomical location. Unusual candidiasis human_phenotype HP:5210102 Unusual anatomical sites for invasive candida infections include the esophagus, kidneys, stomach, and other organs. Clinical manifestations may also involve mucocutaneous surfaces, such as in chronic mucocutaneous candidiasis (CMC). Unusual Candida infection HP:5210102 Hepatitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. CMV hepatitis human_phenotype HP:5210103 CMV hepatitis is an atypical manifestation of cytomegalovirus, most commonly encountered as an opportunistic infection in immunocompromised hosts or as a rare complication of primary mononucleosis. Cytomegalovirus hepatitis HP:5210103 Increased susceptibility to BK polyomavirus infections as manifested by recurrent or severe/invasive infection with BK polyomavirus, or occurring in an unusual anatomical location. Unusual BK polyomavirus infection Unusual Human polyomavirus 1 infection human_phenotype HP:5210104 Unusual BK virus infection HP:5210104 Increased susceptibility to Cryptococcus infections as manifested by recurrent or severe/invasive infection with Cryptococcus, or by Cryptococcus infection occurring in an unusual anatomical location. Unusual cryptococcosis human_phenotype HP:5210105 Unusual Cryptococcus infection HP:5210105 Increased susceptibility to Cryptococcus infections as manifested by recurrent episodes of Cryptococcus infection. Chronic Cryptococcus infection Persistent Cryptococcus infection Recurrent cryptococcosis human_phenotype HP:5210106 Recurrent Cryptococcus infection HP:5210106 Disseminated infection with Cryptococcus, involving multiple organ systems that occurs in the context of immune deficiency. Disseminated cryptococcosis Invasive Cryptococcus infection Severe Cryptococcus infection human_phenotype HP:5210107 Disseminated Cryptococcus infection HP:5210107 Sclerosing cholangitis caused by Cryptococcus infection that occurs in the context of immune deficiency. human_phenotype HP:5210108 Sclerosing cholangitis due to Cryptococcus HP:5210108 PMID:3972225 PMID:3972225 PMID:3972225 Chronic hepatitis caused by Cryptococcus infection that occurs in the context of immune deficiency. human_phenotype HP:5210109 Chronic hepatitis due to Cryptococcus HP:5210109 Increased susceptibility to mycobacterial infections as manifested by recurrent or severe/disseminated infection with mycobacterial organisms, including Mycobacterium tuberculosis, non-tuberculous mycobacteria (NTM), or BCG. Unusual mycobacteriosis Unusual susceptibility to mycobacterial infection human_phenotype HP:5210110 Unusual mycobacterial infection HP:5210110 Increased susceptibility to Mycobacterium tuberculosis infections as manifested by recurrent or severe/invasive infection with Mycobacterium tuberculosis, or by Mycobacterium tuberculosis infection occurring in an unusual anatomical location. TB Tuberculosis TB infection Unusual susceptibility to tuberculosis Unusual tuberculosis infection human_phenotype HP:5210111 In the context of inborn errors of immunity, disseminated tuberculosis is characteristic of Mendelian Susceptibility to Mycobacterial Disease (MSMD) and Severe Combined Immunodeficiency (SCID). A critical clinical distinction is the onset of severe or disseminated disease following BCG vaccination shortly after birth, which serves as a typical clue for underlying IEI (including SCID, MSMD, and CGD) compared to the later acquisition of environmental tuberculosis. Tuberculosis infection HP:5210111 Disseminated infection with Mycobacterium tuberculosis, involving multiple organ systems. Organ-specific manifestations of disseminated tuberculosis include renal tuberculosis (tuberculous pyelonephritis, presenting with sterile pyuria and hematuria), hepatic tuberculosis, adrenal tuberculosis, and tuberculous osteomyelitis. Disseminated tuberculosis Miliary tuberculosis Severe tuberculosis human_phenotype HP:5210112 In the context of inborn errors of immunity, disseminated or severe mycobacterial infections (including both M. tuberculosis and non-tuberculous mycobacteria) are characteristically associated with three primary groups: Severe Combined Immunodeficiency (SCID), Chronic Granulomatous Disease (CGD), and Mendelian Susceptibility to Mycobacterial Disease (MSMD). This clinical presentation across these three groups applies to all mycobacterial subcategories. Disseminated tuberculosis infection HP:5210112 Increased susceptibility to Mycobacterium tuberculosis infections as manifested by recurrent episodes of Mycobacterium tuberculosis infection. Chronic tuberculosis Persistent tuberculosis Recurrent tuberculosis human_phenotype HP:5210113 Recurrent tuberculosis infection HP:5210113 Osteomyelitis caused by Mycobacterium tuberculosis infection that occurs in the context of unusual susceptibility to infection. Pott's disease TB osteomyelitis Tuberculous osteomyelitis human_phenotype HP:5210114 Tuberculous osteomyelitis classically affects the spine (Pott's disease), hip, or knee, and may occur as part of disseminated tuberculosis in patients with Mendelian susceptibility to mycobacterial disease (MSMD), T-cell deficiencies, or HIV co-infection. Tuberculous osteomyelitis HP:5210114 Increased susceptibility to non-tuberculous mycobacteria (NTM) infections as manifested by recurrent or severe/invasive infection with NTM, or occurring in an unusual anatomical location. Non-tuberculous mycobacterial infection Unusual MOTT infection Unusual NTM infection human_phenotype HP:5210115 Non-tuberculous mycobacterial infection HP:5210115 Increased susceptibility to varicella-zoster virus (VZV) infections as manifested by recurrent or severe/invasive infection with VZV, or occurring in an unusual anatomical location. Unusual susceptibility to VZV Unusual varicella-zoster virus infection human_phenotype HP:5210116 Unusual VZV infection HP:5210116 Increased susceptibility to non-tuberculous mycobacteria (NTM) infections as manifested by recurrent episodes of non-tuberculous mycobacteria (NTM) infection. Chronic non-tuberculosis mycobacteria infection Persistent non-tuberculosis mycobacteria infection Recurrent NTM infection Recurrent non-tuberculous mycobacteriosis human_phenotype HP:5210117 Recurrent non-tuberculous mycobacterial infection HP:5210117 Increased susceptibility to mycobacterial infections that rarely cause disease in immunocompetent individuals. Unusual opportunistic mycobacterial infection human_phenotype HP:5210118 Opportunistic mycobacterial infection HP:5210118 Increased susceptibility to Cryptosporidium infections as manifested by recurrent or severe/invasive infection with Cryptosporidium, or by Cryptosporidium infection occurring in an unusual anatomical location. Unusual cryptosporidiosis Unusual susceptibility to Cryptosporidium human_phenotype HP:5210119 Unusual Cryptosporidium infection HP:5210119 Increased susceptibility to Cryptosporidium infections as manifested by recurrent episodes of Cryptosporidium infection. Chronic Cryptosporidium infection Persistent Cryptosporidium infection Recurrent cryptosporidiosis human_phenotype HP:5210120 Recurrent Cryptosporidium infection HP:5210120 Increased susceptibility to infection of the upper respiratory tract, as manifested by recurrent or severe infection of the nose, sinuses, pharynx, larynx, or middle ear, or by infection caused by an atypical or opportunistic organism. human_phenotype HP:5210121 Recurrent or severe sinopulmonary infections are characteristic of humoral (B-cell) deficiencies, complement defects, and phagocyte disorders. This phenotype is also frequently observed in combined immunodeficiencies (e.g., DOCK8 deficiency) and hyper-IgE syndromes (e.g., STAT3 deficiency). Unusual upper respiratory tract infection HP:5210121 Sclerosing cholangitis caused by Cryptosporidium infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210122 Cryptosporidial sclerosing cholangitis and associated biliary complications are characteristic of three primary groups: Hyper-IgM syndromes (both X-linked and autosomal recessive forms), MHC class II deficiency, and DOCK8 deficiency. These conditions typically present with biliary stricturing, jaundice, and progressive hepatic dysfunction due to impaired T-cell mediated clearance of the parasite. Sclerosing cholangitis due to Cryptosporidium infection HP:5210122 PMID:12713884 PMID:12713884 PMID:12713884 Increased susceptibility to infection of the lower respiratory tract, as manifested by recurrent or severe infection of the trachea, bronchi, bronchioles, or lung parenchyma, or by infection caused by an atypical or opportunistic organism. human_phenotype HP:5210123 Recurrent lower respiratory tract infections, including bronchiectasis, are characteristic of antibody deficiencies and combined immunodeficiencies. Unusual lower respiratory tract infection HP:5210123 Increased susceptibility to Giardia lamblia infections as manifested by recurrent or severe/invasive infection with Giardia lamblia, or by Giardia lamblia infection occurring in an unusual anatomical location. Unusual Giardia lamblia infection Unusual giardiasis human_phenotype HP:5210124 Unusual Giardia lamblia infection HP:5210124 Increased susceptibility to Giardia lamblia infections as manifested by a chronic or persistent Giardia lamblia infection. Chronic giardiasis Persistent giardiasis human_phenotype HP:5210125 Persistent or chronic Giardia lamblia infections are characteristic of primary immunodeficiencies that impair mucosal antibody production. This phenotype is most frequently associated with X-linked agammaglobulinemia (XLA), Common Variable Immunodeficiency (CVID), and Hyper-IgM syndromes. Persistent Giardia lamblia infection HP:5210125 Increased susceptibility to Giardia lamblia infections as manifested by recurrent episodes of Giardia lamblia infection. Recurrent giardiasis human_phenotype HP:5210126 Recurrent Giardia lamblia infection HP:5210126 Increased susceptibility to Toxoplasma gondii infections as manifested by recurrent or severe/invasive infection with Toxoplasma gondii, or by Toxoplasma gondii infection occurring in an unusual anatomical location. Unusual toxoplasmosis human_phenotype HP:5210127 Severe or unusual Toxoplasma gondii infections, including CNS toxoplasmosis, are primarily associated with severe T-cell deficiencies (both primary and secondary). This phenotype has also been specifically described in X-linked Hyper-IgM syndrome, where impaired T-cell signaling increases susceptibility to central nervous system involvement. Unusual Toxoplasma infection HP:5210127 Increased susceptibility to infection involving the heart or major vessels, as manifested by recurrent or severe endocarditis, myocarditis, pericarditis, or infectious vasculitis, or by cardiovascular infection caused by an atypical or opportunistic organism. human_phenotype HP:5210128 Unusual cardiovascular system infection HP:5210128 Infection of the central nervous system with Toxoplasma gondii, typically presenting as cerebral toxoplasmosis. CNS encephalitis due to toxoplasma Cerebral toxoplasmosis Toxoplasma encephalitis human_phenotype HP:5210129 Toxoplasma infection of the central nervous system (CNS) HP:5210129 Increased susceptibility to Leishmania infections as manifested by recurrent or severe/invasive infection with Leishmania, or by Leishmania infection occurring in an unusual anatomical location. Leishmaniosis Unusual leishmaniasis human_phenotype HP:5210130 Unusual Leishmania infection HP:5210130 Increased susceptibility to Leishmania infections as manifested by a severe or invasive infection with Leishmania. Disseminated leishmaniasis Visceral leishmaniasis human_phenotype HP:5210131 Severe Leishmania infection HP:5210131 Increased susceptibility to Leishmania infections as manifested by recurrent episodes of Leishmania infection. Chronic leishmaniasis Recurrent leishmaniasis human_phenotype HP:5210132 Recurrent Leishmania infection HP:5210132 Increased susceptibility to parasitic infections that rarely cause disease in immunocompetent individuals. Unusual opportunistic parasitic infection human_phenotype HP:5210133 Opportunistic parasitic infection HP:5210133 Increased susceptibility to infectious cholangitis, as manifested by recurrent or severe infection of the biliary tract, or by cholangitis occurring in an unusual clinical context such as absence of cholelithiasis or biliary obstruction. Causative agents include bacteria (Escherichia coli, Klebsiella pneumoniae, Enterococcus species) and fungi (Candida species). Unusual biliary tract infection Unusual infectious cholangitis Unusual susceptibility to cholangitis human_phenotype HP:5210134 Unusual cholangitis HP:5210134 Increased susceptibility to infection of the genitourinary tract, as manifested by recurrent or severe cystitis, pyelonephritis, kidney abscess, or vaginal infection, or by genitourinary infection caused by an atypical or opportunistic organism. human_phenotype HP:5210135 Unusual genitourinary infection HP:5210135 Increased susceptibility to infection of the eye or its adnexa, as manifested by recurrent or severe conjunctivitis, keratitis, retinitis, or other ocular infection, or by ocular infection caused by an atypical or opportunistic organism. human_phenotype HP:5210137 Unusual eye infection HP:5210137 An atypical or infrequent infectious process affecting the liver parenchyma that deviates from common viral or bacterial patterns. This may include infections caused by rare pathogens (e.g., specific fungi, parasites, or rare bacteria) or infections presenting with atypical clinical or pathological features. Atypical hepatic infection Non-canonical liver infection human_phenotype HP:5210138 This term is intended to capture rare or atypical infectious etiologies of liver inflammation that are not covered by standard viral hepatitis categories (A-E). It includes infections caused by opportunistic pathogens, rare fungi, or parasites in both immunocompetent and immunocompromised hosts. Unusual liver infection HP:5210138 Inflammation of the liver tissue caused by an infectious agent, most commonly viruses (e.g., Hepatitis A, B, C), but also potentially by bacteria, parasites, or fungi. It is characterized by diffuse involvement of the liver parenchyma. Infective liver inflammation Rare infectious liver disease Septic hepatitis Unusual infectious hepatitis human_phenotype HP:5210139 This term refers to diffuse liver inflammation explicitly linked to an infectious agent. While often used interchangeably with viral hepatitis in clinical settings, here it serves as a grouping term for all pathogen-induced diffuse hepatitis, including bacterial and parasitic forms. Infectious hepatitis HP:5210139 Sepsis caused by bacterial infection, characterized by a dysregulated host response to a bacterial pathogen with systemic inflammation, organ dysfunction, and potential progression to septic shock. Bacterial bloodstream infection human_phenotype HP:5210140 Causative organisms range from gram-positive cocci such as Staphylococcus aureus and Streptococcus species to gram-negative bacilli such as Escherichia coli and Klebsiella pneumoniae, and may include anaerobic and atypical bacterial organisms. Bacterial sepsis HP:5210140 Sepsis caused by fungal infection, characterized by a dysregulated host response to a fungal pathogen with systemic inflammation, organ dysfunction, and potential progression to septic shock. Fungal sepsis bloodstream infection human_phenotype HP:5210141 Common causative organisms include Candida species (candidaemia), Aspergillus species, Cryptococcus, and the Mucorales, as well as endemic dimorphic fungi. Fungal sepsis HP:5210141 Sepsis or sepsis-like syndrome caused by viral infection, characterized by a dysregulated host response to a viral pathogen with systemic inflammation, multi-organ involvement, and potential progression to circulatory and respiratory failure. Viral bloodstream infection human_phenotype HP:5210142 Causative organisms include, among others, influenza virus, SARS-CoV-2, dengue virus, enteroviruses, and various herpesviruses such as cytomegalovirus (CMV), Epstein-Barr virus (EBV), and varicella-zoster virus (VZV). Viral sepsis HP:5210142 Sepsis or sepsis-like systemic illness caused by mycobacterial infection, characterized by a dysregulated host response with systemic inflammation, multi-organ involvement, and disseminated mycobacterial disease. Mycobacterial bloodstream infection human_phenotype HP:5210143 Causative organisms include Mycobacterium tuberculosis (notably as part of disseminated or miliary tuberculosis) and non-tuberculous mycobacteria. Mycobacterial sepsis HP:5210143 Pneumonia characterized by lobar or segmental consolidation on radiographic imaging, reflecting alveolar filling with inflammatory exudate that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210144 Recurrent pneumonia with consolidation is a characteristic of antibody deficiencies (CVID, X-linked agammaglobulinaemia) and may progress to bronchiectasis if untreated. Pneumonia with consolidation HP:5210144 Increased susceptibility to cytomegalovirus (CMV) infections as manifested by severe, invasive, persistent, or disseminated CMV infection. Unusual CMV infection Unusual CMV postnatal infection Unusual susceptibility to CMV human_phenotype HP:5210146 Unusual cytomegalovirus infection HP:5210146 Increased susceptibility to pleural empyema, as manifested by recurrent or severe infection of the pleural space, or by empyema occurring in an unusual clinical context such as an atypical causative organism or failure to resolve with standard therapy. Unusual pleural infection Unusual susceptibility to empyema human_phenotype HP:5210147 Unusual pleural empyema HP:5210147 Increased susceptibility to pleural empyema, as manifested by a severe or life-threatening infection of the pleural space requiring surgical drainage, decortication, or intensive care. Complicated pleural empyema Invasive pleural empyema human_phenotype HP:5210148 Severe pleural empyema HP:5210148 Increased susceptibility to pleural empyema, as manifested by recurrent episodes of pleural space infection that are unusual in frequency for a healthy individual of the same age. Chronic pleural empyema Persistent pleural empyema human_phenotype HP:5210149 Recurrent pleural empyema HP:5210149 Increased susceptibility to infectious endocarditis, as manifested by recurrent or severe endocardial infection, or by endocarditis caused by an unusual organism. Unusual infectious endocarditis Unusual susceptibility to endocarditis human_phenotype HP:5210150 Unusual endocarditis HP:5210150 Increased susceptibility to infectious endocarditis, as manifested by severe or complicated endocarditis with valvular destruction, systemic emboli, or heart failure requiring surgical intervention. Complicated infectious endocarditis Invasive endocarditis human_phenotype HP:5210151 Severe endocarditis HP:5210151 Increased susceptibility to infectious endocarditis, as manifested by recurrent episodes of endocardial infection that are unusual in frequency for a healthy individual of the same age. Chronic endocarditis Persistent endocarditis human_phenotype HP:5210152 Recurrent endocarditis HP:5210152 Increased susceptibility to infectious myocarditis, as manifested by recurrent or severe inflammation of the myocardium caused by infection, or by myocarditis caused by an unusual organism. Unusual infectious myocarditis Unusual susceptibility to myocarditis human_phenotype HP:5210153 Unusual myocarditis HP:5210153 Increased susceptibility to infectious myocarditis, as manifested by severe myocardial inflammation with haemodynamic compromise, arrhythmia, or fulminant heart failure. Fulminant myocarditis Invasive myocarditis human_phenotype HP:5210154 Severe myocarditis HP:5210154 Increased susceptibility to infectious myocarditis, as manifested by recurrent episodes of myocardial inflammation caused by infection that are unusual in frequency for a healthy individual of the same age. Chronic myocarditis Persistent myocarditis human_phenotype HP:5210155 Recurrent myocarditis HP:5210155 Increased susceptibility to infectious pericarditis, as manifested by recurrent or severe inflammation of the pericardium caused by infection, or by pericarditis caused by an unusual organism. Unusual infectious pericarditis Unusual susceptibility to pericarditis human_phenotype HP:5210156 Unusual pericarditis HP:5210156 Increased susceptibility to infectious pericarditis, as manifested by severe inflammation of the pericardium with pericardial effusion, tamponade, or constrictive pericarditis. Complicated infectious pericarditis Pericardial tamponade due to infection Purulent pericarditis human_phenotype HP:5210157 Severe pericarditis HP:5210157 Increased susceptibility to infectious pericarditis, as manifested by recurrent episodes of pericardial inflammation caused by infection that are unusual in frequency for a healthy individual of the same age. Chronic pericarditis Persistent pericarditis human_phenotype HP:5210158 Recurrent pericarditis HP:5210158 Increased susceptibility to vasculitis caused by infection, as manifested by recurrent or severe vascular inflammation of infectious aetiology, or by infectious vasculitis caused by an unusual organism. Unusual susceptibility to infectious vasculitis Unusual vasculitis due to infection human_phenotype HP:5210159 Unusual infectious vasculitis HP:5210159 Increased susceptibility to vasculitis caused by infection, as manifested by severe vascular inflammation with ischaemia, infarction, or end-organ damage. Complicated infectious vasculitis Invasive infectious vasculitis human_phenotype HP:5210160 Severe infectious vasculitis HP:5210160 Increased susceptibility to vasculitis caused by infection, as manifested by recurrent episodes of vascular inflammation of infectious etiology that are unusual in frequency for a healthy individual of the same age. Chronic infectious vasculitis Persistent infectious vasculitis human_phenotype HP:5210161 Recurrent infectious vasculitis HP:5210161 Abscess of the liver caused by bacterial infection. Principal causative agents include Escherichia coli, Klebsiella pneumoniae, Bacteroides species, and Staphylococcus aureus. Pyogenic liver abscess human_phenotype HP:5210163 Bacterial liver abscess HP:5210163 A liver abscess caused by Staphylococcus aureus infection that may arise from hematogenous spread, biliary infection, or contiguous spread. Liver abscess due to Staphylococcus aureus human_phenotype HP:5210164 A recurrent or unusual staphylococcal liver abscess can be a manifestation of unusual susceptibility to infection and is a hallmark presentation of chronic granulomatous disease. Staphylococcal liver abscess HP:5210164 Abscess of the liver caused by Klebsiella species infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210165 Hepatic abscess due to Klebsiella pneumoniae|Klebsiella pneumoniae liver abscess Klebsiella liver abscess HP:5210165 A liver abscess caused by fungal infection, with common causative organisms including Candida species (often as part of hepatosplenic candidiasis) and Aspergillus species. human_phenotype HP:5210166 A fungal liver abscess most often occurs in the context of severe immunocompromise. Fungal liver abscess HP:5210166 Infection of the liver caused by Candida species that occurs in the context of unusual susceptibility to infection. Candidal liver abscess Hepatic candidal infection human_phenotype HP:5210167 A characteristic feature of severe T-cell deficiency and neutrophil defects including chronic granulomatous disease. Hepatic candidiasis HP:5210167 A liver abscess or cystic hepatic lesion caused by parasitic infection, with principal causative organisms being Entamoeba histolytica (amoebic liver abscess) and Echinococcus species (hepatic hydatid disease). human_phenotype HP:5210168 Susceptibility to parasitic liver abscesses (e.g., amebic or hydatid) is primarily determined by environmental exposure and geographic endemicity rather than an underlying immune defect. While severe or atypical cases can occur in immunocompromised states, they are not standard diagnostic markers for primary immunodeficiency. Parasitic liver abscess HP:5210168 Abscess of the liver caused by Entamoeba histolytica infection that occurs in the context of unusual susceptibility to infection. Hepatic amoebic abscess Liver abscess due to Entamoeba histolytica human_phenotype HP:5210169 Amoebic liver abscess HP:5210169 Cystic or alveolar lesion of the liver caused by Echinococcus infection that occurs in the context of unusual susceptibility to infection. Hepatic echinococcosis Hepatic hydatid disease Hydatid cyst of the liver human_phenotype HP:5210170 Echinococcal liver cyst HP:5210170 Infection of the liver caused by Schistosoma species, occurring in the context of unusual susceptibility to infection, typically presenting with periportal fibrosis or hepatosplenomegaly. Hepatosplenic schistosomiasis Schistosomal liver disease human_phenotype HP:5210171 Hepatic schistosomiasis HP:5210171 A splenic abscess caused by bacterial infection, typically with organisms such as Staphylococcus aureus, Salmonella species, and gram-negative enteric bacteria. It may arise from hematogenous seeding, contiguous spread, or trauma. human_phenotype HP:5210172 A recurrent or unusual bacterial splenic abscess can be a manifestation of unusual susceptibility to infection, particularly in phagocyte defects. Bacterial splenic abscess HP:5210172 A splenic abscess caused by fungal infection, often as part of hepatosplenic candidiasis. human_phenotype HP:5210173 A fungal splenic abscess most often occurs in the context of severe immunocompromise, including neutrophil defects and post-hematopoietic-stem-cell-transplant patients. Fungal splenic abscess HP:5210173 A splenic abscess or cystic splenic lesion caused by parasitic infection, with causative organisms including Echinococcus species (splenic hydatid disease) and Entamoeba histolytica. human_phenotype HP:5210174 Parasitic splenic abscess HP:5210174 An increased susceptibility to gastroenteritis of infectious etiology, as manifested by a recurrent or severe gastroenteritis, a prolonged diarrhoeal illness, or a gastroenteritis caused by an atypical or opportunistic organism. Unusual infectious infection of the gastrointestinal tract human_phenotype HP:5210175 A recurrent or chronic infectious gastroenteritis can be a manifestation of antibody deficiencies or combined immunodeficiencies. Unusual infectious gastroenteritis HP:5210175 A gastroenteritis caused by bacterial infection, with common causative organisms including Salmonella species, Shigella species, Campylobacter, and pathogenic Escherichia coli. human_phenotype HP:5210176 A recurrent or invasive bacterial gastroenteritis can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies and IL-12/IFN-gamma axis defects. Unusual bacterial gastroenteritis HP:5210176 A gastroenteritis caused by viral infection, with common causative organisms including rotavirus, norovirus, adenovirus, astrovirus, and enterovirus. human_phenotype HP:5210177 A chronic or persistent viral gastroenteritis can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies and severe combined immunodeficiency. Unusual viral gastroenteritis HP:5210177 A gastroenteritis caused by fungal infection, most often by Candida species. A fungal gastroenteritis can occur in any host with severely disrupted mucosal immunity or following prolonged broad-spectrum antibiotic exposure, and can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210178 Unusual fungal gastroenteritis HP:5210178 A gastroenteritis caused by parasitic infection, with causative organisms including Giardia lamblia, Cryptosporidium species, and Microsporidia. human_phenotype HP:5210179 A chronic or recurrent parasitic gastroenteritis can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies and disorders affecting CD40-CD40L signalling. Unusual parasitic gastroenteritis HP:5210179 An increased susceptibility to colitis of infectious etiology, as manifested by a recurrent or severe colonic infection, or by an infectious colitis caused by an atypical or opportunistic organism. Unusual infectious colitis human_phenotype HP:5210180 A recurrent or chronic infectious colitis can be a manifestation of antibody deficiencies and combined immunodeficiencies. Unusual infectious colitis HP:5210180 A colitis caused by bacterial infection, with common causative organisms including Salmonella, Shigella, Campylobacter, enteroinvasive Escherichia coli, and Clostridioides difficile. human_phenotype HP:5210181 A recurrent or severe bacterial colitis can be a manifestation of unusual susceptibility to infection. Unusual bacterial colitis HP:5210181 A colitis caused by viral infection, with causative organisms including cytomegalovirus, adenovirus, norovirus, and enterovirus. human_phenotype HP:5210182 A viral colitis can occur in immunocompetent hosts but is more common in the context of unusual susceptibility to infection, particularly in T-cell deficiencies and post-transplant immunosuppression. Unusual viral colitis HP:5210182 A colitis caused by fungal infection, most commonly by Candida species. human_phenotype HP:5210183 A fungal colitis can be a manifestation of unusual susceptibility to infection, particularly in severe T-cell deficiencies, neutrophil defects, or following prolonged broad-spectrum antibiotic exposure. Unusual fungal colitis HP:5210183 A colitis caused by parasitic infection, with causative organisms including Entamoeba histolytica, Cryptosporidium species, and Strongyloides stercoralis. human_phenotype HP:5210184 A chronic or invasive parasitic colitis can be a manifestation of unusual susceptibility to infection. Unusual parasitic colitis HP:5210184 An increased susceptibility to pancreatitis of infectious etiology, as manifested by a recurrent or severe infectious pancreatitis, or by a pancreatitis caused by an atypical or opportunistic organism. Unusual infectious pancreatitis human_phenotype HP:5210185 An infectious pancreatitis may occur as part of disseminated viral, bacterial, fungal, or parasitic infection. Unusual infectious pancreatitis HP:5210185 A pancreatitis caused by bacterial infection, which may occur as a complication of bacteraemia, ascending biliary infection, or invasive abdominal infection. human_phenotype HP:5210186 A severe or recurrent bacterial pancreatitis can be a manifestation of unusual susceptibility to infection. Unusual bacterial pancreatitis HP:5210186 A pancreatitis caused by viral infection, with causative organisms including mumps virus, cytomegalovirus, coxsackievirus, and other enteroviruses. human_phenotype HP:5210187 A viral pancreatitis can occur in any host but can be a manifestation of unusual susceptibility to infection in the context of T-cell deficiencies and disseminated viral disease. Unusual viral pancreatitis HP:5210187 A pancreatitis caused by fungal infection. Such cases are rare and typically occur as a manifestation of disseminated invasive fungal disease (with Candida or Aspergillus species) in severely immunocompromised hosts. human_phenotype HP:5210188 Unusual fungal pancreatitis HP:5210188 A pancreatitis caused by parasitic infection, with causative organisms including Cryptosporidium species, Ascaris lumbricoides, and Echinococcus species. human_phenotype HP:5210189 A parasitic pancreatitis can be a manifestation of unusual susceptibility to infection, particularly in combined immunodeficiencies. Unusual parasitic pancreatitis HP:5210189 Increased susceptibility to bacterial cholangitis, as manifested by recurrent or severe infection of the biliary tract, or by cholangitis occurring in an unusual clinical context such as absence of cholelithiasis or biliary obstruction. Principal causative agents include Escherichia coli, Klebsiella pneumoniae, and Enterococcus species. Recurrent bacterial cholangitis Unusual ascending cholangitis Unusual susceptibility to bacterial cholangitis human_phenotype HP:5210190 Unusual bacterial cholangitis HP:5210190 Increased susceptibility to cystitis, as manifested by recurrent or severe infection of the urinary bladder, or by cystitis caused by an atypical or opportunistic organism. Bladder inflammation Cystitis Infection of the bladder human_phenotype HP:5210191 Causative agents include bacteria (Escherichia coli, Klebsiella pneumoniae, Enterococcus species), viruses (adenovirus, BK polyomavirus), and fungi (Candida species). Unusual cystitis HP:5210191 Increased susceptibility to haemorrhagic cystitis, as manifested by recurrent or severe bladder infection with frank haematuria caused by viral or other atypical organisms. Its occurrence is inherently unusual and can indicate significant immune deficiency. Unusual haemorrhagic cystitis human_phenotype HP:5210192 Haemorrhagic cystitis in the context of inborn errors of immunity is predominantly caused by adenovirus and BK polyomavirus, and is a characteristic complication of severe T-cell deficiency and combined immunodeficiency. Unusual hemorrhagic cystitis HP:5210192 Unusual haemorrhagic cystitis Increased susceptibility to fungal cystitis, as manifested by recurrent or severe infection of the urinary bladder caused by fungal organisms. human_phenotype HP:5210193 Unusual fungal cystitis HP:5210193 Increased susceptibility to bacterial cystitis, as manifested by recurrent or severe infection of the urinary bladder caused by bacteria, or by bacterial cystitis caused by an atypical organism. human_phenotype HP:5210194 Unusual bacterial cystitis HP:5210194 An inflammation of the kidney involving the renal parenchyma, pelvis, and calices, occurring in a manner unusual for a healthy individual of the same age, as manifested by recurrent or severe episodes of pyelonephritis, or by pyelonephritis caused by an atypical or opportunistic organism Atypical pyelonephritis Unusual pyelonephritis human_phenotype HP:5210195 Unusual pyelonephritis HP:5210195 Abscess of the kidney occurring in the context of unusual susceptibility to infection, as manifested by renal abscess caused by an atypical or opportunistic organism, or by renal abscess occurring in the absence of the usual predisposing factors such as urinary tract obstruction or urolithiasis. Unusual renal abscess human_phenotype HP:5210196 Unusual kidney abscess HP:5210196 Abscess of the kidney caused by bacterial infection that occurs in the context of unusual susceptibility to infection. Bacterial perinephric abscess Bacterial renal abscess Pyogenic renal abscess human_phenotype HP:5210197 Principal causative agents include Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis, and Staphylococcus aureus. Bacterial kidney abscess HP:5210197 Abscess of the kidney caused by fungal infection that occurs in the context of unusual susceptibility to infection. Candidal renal abscess Fungal renal abscess Renal candidiasis human_phenotype HP:5210198 Principal causative agent is Candida species, typically occurring in the context of T-cell deficiency or neutrophil defects. Fungal kidney abscess HP:5210198 Abscess of the kidney caused by parasitic infection that occurs in the context of unusual susceptibility to infection. Echinococcal renal cyst Parasitic renal abscess Renal hydatid cyst human_phenotype HP:5210199 Principal causative agents include Echinococcus species (renal hydatid cyst) and Entamoeba histolytica. Parasitic kidney abscess HP:5210199 Increased susceptibility to vaginal infection, as manifested by recurrent or severe infection of the vagina or vulvovaginal area caused by bacterial, viral, fungal, or parasitic organisms, or by vaginal infection caused by an atypical or opportunistic organism. human_phenotype HP:5210200 Unusual vaginal infection HP:5210200 PMID:24186907 PMID:28868834 Increased susceptibility to bacterial vaginal infection, as manifested by recurrent or severe bacterial vaginosis or vaginal bacterial infection that is unusual in frequency or severity for a healthy individual of the same age. human_phenotype HP:5210201 Common causative agents include Gardnerella vaginalis and vaginal anaerobes including Prevotella species and Mobiluncus species. Unusual bacterial vaginal infection HP:5210201 Increased susceptibility to viral vaginal infection, as manifested by recurrent or severe herpes simplex virus (HSV) infection of the vaginal or vulvovaginal area that can occur in the context of immune deficiency. human_phenotype HP:5210202 Severe or disseminated genital HSV infection can be observed in T-cell deficiencies. Unusual viral vaginal infection HP:5210202 PMID:15901133 Increased susceptibility to vulvovaginal candidiasis, as manifested by recurrent or severe infection of the vagina or vulvovaginal area caused by Candida species. Predominantly caused by Candida albicans, with Candida glabrata in azole-resistant cases. human_phenotype HP:5210203 Unusual fungal vaginal infection can be observed in individuals with T-cell deficiencies, IL-17 pathway defects, and chronic mucocutaneous candidiasis. Recurrent vulvovaginal candidiasis has been documented in patients with IL-12Rbeta1 deficiency and in patients with impaired T-lymphocyte proliferation in response to Candida antigen. Unusual fungal vaginal infection HP:5210203 PMID:24186907 PMID:28868834 PMID:24186907 PMID:28868834 Increased susceptibility to parasitic vaginal infection, as manifested by recurrent or severe trichomoniasis or other parasitic vaginal infection. A common causative agent is Trichomonas vaginalis, which has been documented in immunocompromised hosts. human_phenotype HP:5210204 Unusual parasitic vaginal infection HP:5210204 PMID:12792927 PMID:12792927 An osteomyelitis caused by bacterial infection, with common causative organisms including Staphylococcus aureus, Streptococcus species, and gram-negative bacilli such as Salmonella and Serratia marcescens. human_phenotype HP:5210205 A recurrent, multifocal, or atypical-organism bacterial osteomyelitis can be a manifestation of unusual susceptibility to infection, particularly in chronic granulomatous disease, other phagocyte defects, combined immunodeficiencies, STAT3 signaling pathway defects, and asplenia (including sickle cell-related). Unusual bacterial osteomyelitis HP:5210205 An osteomyelitis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and the dimorphic fungi. human_phenotype HP:5210206 A fungal osteomyelitis is most often a manifestation of unusual susceptibility to infection, particularly in severe neutrophil defects, chronic granulomatous disease, other phagocyte defects, combined immunodeficiencies, and STAT3 signaling pathway defects. Unusual fungal osteomyelitis HP:5210206 An increased susceptibility to arthritis of infectious etiology, as manifested by a recurrent or severe septic arthritis, or by an infectious arthritis caused by an atypical or opportunistic organism. Unusual infectious arthritis human_phenotype HP:5210207 A recurrent or polyarticular infectious arthritis can be a manifestation of an inborn error of immunity. Unusual infectious arthritis HP:5210207 An arthritis caused by bacterial infection, with common causative organisms including Staphylococcus aureus, Streptococcus species, Neisseria gonorrhoeae, and Haemophilus influenzae. Bacterial septic arthritis human_phenotype HP:5210208 A recurrent or polyarticular bacterial arthritis with encapsulated organisms can be a manifestation of unusual susceptibility to infection, particularly in immunodeficiencies. Unusual bacterial arthritis HP:5210208 An arthritis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and Cryptococcus. human_phenotype HP:5210209 A fungal arthritis is most often a manifestation of disseminated fungal disease in severely immunocompromised hosts. Unusual fungal arthritis HP:5210209 An arthritis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis (tuberculous arthritis) and non-tuberculous mycobacteria. human_phenotype HP:5210210 A mycobacterial arthritis can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease (MSMD) and combined immunodeficiencies. Unusual mycobacterial arthritis HP:5210210 An increased susceptibility to myositis of infectious aetiology, as manifested by a recurrent or severe inflammation of skeletal muscle caused by infection, or by an infectious myositis caused by an atypical or opportunistic organism. Common causative organisms include Staphylococcus aureus (pyomyositis), Streptococcus pyogenes, and Clostridium species (gas gangrene), as well as viral, fungal, and parasitic agents. Unusual infectious myositis human_phenotype HP:5210211 Unusual infectious myositis HP:5210211 A myositis caused by bacterial infection, with common causative organisms including Staphylococcus aureus (pyomyositis) and Streptococcus species. human_phenotype HP:5210212 A recurrent or invasive bacterial myositis can be a manifestation of unusual susceptibility to infection. Unusual bacterial myositis HP:5210212 A myositis caused by fungal infection, with causative organisms including Candida species, Aspergillus species, and the Mucorales. A fungal myositis is rare and typically a manifestation of severe immunocompromise. human_phenotype HP:5210213 Unusual fungal myositis HP:5210213 A myositis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis and non-tuberculous mycobacteria. human_phenotype HP:5210214 A mycobacterial myositis can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease (MSMD) and combined immunodeficiencies. Unusual mycobacterial myositis HP:5210214 A myositis caused by viral infection, with causative organisms including enterovirus, influenza virus, coxsackievirus, and HIV. human_phenotype HP:5210215 A chronic enteroviral myositis (often presenting as a dermatomyositis-like syndrome) can be a manifestation of unusual susceptibility to infection, particularly in X-linked agammaglobulinaemia. Unusual viral myositis HP:5210215 A meningitis caused by viral infection, with common causative organisms including herpes simplex virus, varicella-zoster virus, enterovirus, and CMV. A recurrent or chronic viral meningitis (particularly chronic enteroviral meningoencephalitis) can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210216 Viral meningitis HP:5210216 A meningitis caused by bacterial infection, with common causative organisms including Streptococcus pneumoniae, Neisseria meningitidis, and Haemophilus influenzae type b. A recurrent or invasive bacterial meningitis with encapsulated organisms can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies, complement deficiencies, and asplenia. human_phenotype HP:5210217 Bacterial meningitis HP:5210217 A meningitis caused by parasitic infection, with causative organisms including Toxoplasma gondii, Acanthamoeba, and Naegleria fowleri. A parasitic meningitis can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210218 Parasitic meningitis HP:5210218 A meningitis caused by mycobacterial infection, with the principal causative organism being Mycobacterium tuberculosis (tuberculous meningitis). A non-tuberculous mycobacterial meningitis is rare and can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease. human_phenotype HP:5210219 Mycobacterial meningitis HP:5210219 An encephalitis caused by fungal infection, with causative organisms including Cryptococcus neoformans, Aspergillus species, Candida species, and the Mucorales. A fungal encephalitis is most often a manifestation of disseminated invasive fungal disease in severely immunocompromised hosts. human_phenotype HP:5210220 Fungal encephalitis HP:5210220 An encephalitis caused by parasitic infection, with causative organisms including Toxoplasma gondii (toxoplasmic encephalitis), Acanthamoeba, and Naegleria fowleri. A parasitic encephalitis can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210221 Parasitic encephalitis HP:5210221 An encephalitis caused by mycobacterial infection, with the principal causative organism being Mycobacterium tuberculosis (tuberculous encephalitis, often as part of CNS tuberculosis). A mycobacterial encephalitis can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease. human_phenotype HP:5210222 Mycobacterial encephalitis HP:5210222 A brain abscess caused by bacterial infection, with causative organisms including Staphylococcus aureus, Streptococcus species, anaerobes, and gram-negative bacilli. It may arise from contiguous spread (sinusitis, otitis) or hematogenous seeding, and a bacterial brain abscess can be a manifestation of unusual susceptibility to infection, particularly in phagocyte defects. human_phenotype HP:5210223 Bacterial brain abscess HP:5210223 A brain abscess caused by fungal infection, with causative organisms including Aspergillus species, Cryptococcus, Candida, and the Mucorales. A fungal brain abscess is most often a manifestation of disseminated invasive fungal disease in severely immunocompromised hosts. human_phenotype HP:5210224 Fungal brain abscess HP:5210224 A brain abscess caused by parasitic infection, with causative organisms including Toxoplasma gondii, Entamoeba histolytica, and Echinococcus species. A parasitic brain abscess can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210225 Parasitic brain abscess HP:5210225 A brain abscess caused by mycobacterial infection, with the classic manifestation being a tuberculoma caused by Mycobacterium tuberculosis. A mycobacterial brain abscess can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease. human_phenotype HP:5210226 Mycobacterial brain abscess HP:5210226 Increased susceptibility to infection of the spinal cord, as manifested by infectious myelitis, spinal epidural or intradural abscess, or spinal cord compression due to infectious spondylodiscitis occuring in an unusual clinical context such as an atypical causative organism, absence of the usual predisposing factors, or by occurrence in the context of immune deficiency. Principal causative agents include bacteria (Staphylococcus aureus, Escherichia coli, Mycobacterium tuberculosis), fungi (Aspergillus species, Candida species), and viruses (enteroviruses, VZV, CMV). Infectious myelitis Infectious spinal cord compression Spinal cord abscess Spinal intradural abscess Unusual myelitis human_phenotype HP:5210227 Unusual spinal cord infection HP:5210227 PMID:15629340 PMID:37663715 An increased susceptibility to bacterial infection of the skin, as manifested by a recurrent or severe cutaneous bacterial infection, or by a skin infection caused by an atypical or opportunistic organism. Common causative organisms include Staphylococcus aureus and Streptococcus species. A recurrent bacterial skin infection can be a manifestation of phagocyte defects, hyper-IgE syndrome, and atopic dermatitis-related immune defects. Unusual bacterial skin infection human_phenotype HP:5210228 Unusual bacterial skin infection HP:5210228 Increased susceptibility to bacterial skin abscesses, as manifested by recurrent, multifocal, or unusually severe collections of pus within the dermis or deeper skin layers. While common causative organisms include Staphylococcus aureus and Streptococcus species, this term also encompasses abscesses caused by opportunistic or atypical bacteria, or those that are refractory to standard antibiotic therapy. Unusual skin abscess human_phenotype HP:5210229 Unusual bacterial skin abscess HP:5210229 A recurrent infection of hair follicles producing furuncles (boils), with common causative organisms being Staphylococcus aureus and Streptococcus species. A recurrent boil can be a manifestation of unusual susceptibility to infection, particularly in chronic granulomatous disease, hyper-IgE syndrome (STAT3 deficiency), leukocyte adhesion deficiency, and atopic dermatitis-related immune defects. Recurrent folliculitis Recurrent furuncles human_phenotype HP:5210230 Recurrent boils HP:5210230 A cellulitis caused by bacterial infection of the dermis and subcutaneous tissue, with common causative organisms including Streptococcus pyogenes and Staphylococcus aureus. Recurrent cellulitis Unusual bacterial cellulitis human_phenotype HP:5210231 A recurrent or severe bacterial cellulitis can be a manifestation of unusual susceptibility to infection, including phagocyte defects, lymphoedema-associated immune defects, and complement deficiencies. Bacterial cellulitis HP:5210231 An increased susceptibility to viral infection of the skin, as manifested by a recurrent or severe cutaneous viral infection, or by a skin infection caused by an atypical or opportunistic organism. Common causative organisms include herpes simplex virus, varicella-zoster virus, human papillomavirus, and Molluscum contagiosum. Unusual viral skin infection human_phenotype HP:5210232 A recurrent or disseminated viral skin infection can be a manifestation of T-cell deficiencies, DOCK8 deficiency, and WHIM syndrome. Unusual viral skin infection HP:5210232 A herpes simplex virus (HSV) infection of the skin, which may present as localised vesicular lesions in any host. A severe, persistent, or disseminated cutaneous HSV infection (including eczema herpeticum and chronic ulcerative herpes) can be a manifestation of unusual susceptibility to infection. Cutaneous herpes Herpes simplex skin infection Unusual Herpes simplex skin infection human_phenotype HP:5210233 Unusual HSV skin infection HP:5210233 An increased susceptibility to parasitic infection of the skin or subcutaneous tissue, as manifested by a recurrent, severe, or atypically distributed parasitic skin lesion, or by a cutaneous parasitic infection occurring in an unusual clinical context. Causative organisms include Leishmania species, Onchocerca volvulus, and Ancylostoma species. An atypical or disseminated cutaneous leishmaniasis can be a manifestation of unusual susceptibility to infection. human_phenotype HP:5210234 Unusual parasitic skin infection HP:5210234 Varicella-zoster virus (VZV) skin infection including chickenpox or herpes zoster that is unusually severe or persistent. Chickenpox Varicella-zoster virus skin infection Zoster human_phenotype HP:5210235 Unusual VZV skin infection HP:5210235 An increased susceptibility to fungal infection of the skin or subcutaneous tissue, as manifested by a recurrent, severe, or atypically distributed fungal lesion, or by an infection caused by an atypical or opportunistic organism. Common manifestations include chronic mucocutaneous candidiasis or subcutaneous mycoses (such as sporotrichosis caused by Sporothrix species. human_phenotype HP:5210236 An unusual fungal skin infection is a hallmark of T-cell deficiencies, inborn errors of IL-17 immunity (e.g., STAT1 gain-of-function, AIRE deficiency), and CARD9 deficiency, which specifically predisposes to deep dermatophytosis and subcutaneous fungal invasion. Unusual fungal skin infection HP:5210236 Recurrent nappy (diaper) rash of infectious aetiology, typically caused by Candida. Recurrent candidal nappy rash Recurrent diaper dermatitis Recurrent nappy rash human_phenotype HP:5210237 Recurrent diaper rash HP:5210237 Increased susceptibility to infection of the nail apparatus, including the nail plate, nail bed, nail matrix, and proximal nail fold, as manifested by recurrent or severe nail infection, or by nail infection caused by an atypical or opportunistic organism. Unusual nail apparatus infection Unusual susceptibility to nail infection human_phenotype HP:5210238 Causative agents include bacteria (Staphylococcus aureus, Streptococcus species) causing paronychia, and fungi (dermatophytes, Candida species) causing onychomycosis. Unusual nail infection HP:5210238 PMID:31677808 Increased susceptibility to bacterial infection of the nail bed and proximal nail fold (paronychia), as manifested by recurrent or severe episodes that are unusual in frequency or severity for a healthy individual of the same age. Principal causative agents include Staphylococcus aureus and Streptococcus species. Recurrent paronychia Unusual bacterial paronychia Unusual nail fold infection Unusual paronychia human_phenotype HP:5210239 Recurrent bacterial paronychia is a characteristic feature of phagocyte defects including leukocyte adhesion deficiency and chronic granulomatous disease. Unusual bacterial nail bed infection HP:5210239 Increased susceptibility to herpes simplex virus (HSV) infections as manifested by recurrent or severe/invasive infection with HSV, or occurring in an unusual anatomical location. Unusual herpes simplex virus infection Unusual susceptibility to HSV human_phenotype HP:5210240 Unusual HSV infection HP:5210240 Increased susceptibility to recurrent fungal nail infection (onychomycosis), as manifested by recurrent or persistent infection of the nail plate, nail bed, or nail matrix caused by dermatophytes (Trichophyton species) or Candida species. Chronic nail candidiasis Chronic onychomycosis Recurrent fungal nail infection human_phenotype HP:5210241 Recurrent onychomycosis is a characteristic feature of chronic mucocutaneous candidiasis (CMC) due to STAT1 gain-of-function, STAT3 loss-of-function, or other IL-17 pathway defects. Recurrent onychomycosis HP:5210241 PMID:31677808 An increased susceptibility to mycobacterial infection of the skin, as manifested by persistent, disseminated, or multifocal cutaneous lesions occurring in an unusual clinical context. This includes skin involvement in tuberculosis (Mycobacterium tuberculosis) or infections caused by atypical mycobacteria (nontuberculous mycobacteria), such as M. marinum, M. avium complex, or M. chelonae. Unusual mycobacterial skin infection human_phenotype HP:5210242 Unusual mycobacterial skin infections are highly characteristic of Mendelian susceptibility to mycobacterial disease (MSMD), affecting the IL-12/IFN-gamma axis, as well as GATA2 deficiency and other profound T-cell deficiencies. Unusual mycobacterial skin infection HP:5210242 Increased susceptibility to infection of the fascia and surrounding soft tissue, as manifested by necrotizing fasciitis or other invasive fascial infection occurring in an unusual clinical context. Necrotizing fasciitis is a rapidly progressive, life-threatening infection of the superficial fascia and subcutaneous tissue. Invasive fascial infection Unusual necrotising fasciitis Unusual necrotizing fasciitis Unusual soft tissue necrotizing infection human_phenotype HP:5210243 Principal causative agents include Streptococcus pyogenes (type I, monomicrobial) and polymicrobial infections involving anaerobes, Gram-negative organisms, and Staphylococcus aureus (type II). Immunocompromise is present in approximately 50% of cases. Unusual fascia infection HP:5210243 PMID:40361999 PMID:40361999 Infestation of the skin by migrating hookworm larvae (principally Ancylostoma braziliense and Ancylostoma caninum), causing serpiginous, pruritic, erythematous cutaneous tracks. Although typically self-limited in immunocompetent hosts, cutaneous larva migrans may follow a prolonged or atypical course in the context of immune deficiency, including HIV/AIDS and other T-cell defects. CLM Creeping eruption Hookworm-related cutaneous larva migrans human_phenotype HP:5210244 Unusual cutaneous larva migrans HP:5210244 PMID:24045393 Infection of the skin and subcutaneous tissue by Leishmania species, as manifested by cutaneous or mucocutaneous leishmaniasis occurring in the context of unusual susceptibility to infection. Cutaneous leishmaniasis presents with chronic, non-healing ulcerative skin lesions. Unusual cutaneous leishmaniasis Unusual mucocutaneous leishmaniasis Unusual susceptibility to cutaneous Leishmania infection human_phenotype HP:5210245 In the context of inborn errors of immunity, susceptibility to Leishmania species is associated with defects in the IL-12/IFN-gamma axis, including Mendelian susceptibility to mycobacterial disease (MSMD) gene defects. Unusual cutaneous leishmaniasis HP:5210245 PMID:21057261 PMID:21533230 PMID:25453225 PMID:21057261 PMID:21533230 PMID:25453225 Increased susceptibility to gingivitis, as manifested by severe or necrotising gingival infection, including necrotising ulcerative gingivitis, associated with significant tissue destruction. Invasive gingivitis Necrotising ulcerative gingivitis Necrotizing gingivitis human_phenotype HP:5210246 Severe gingivitis HP:5210246 PMID:39274292 PMID:39412215 Increased susceptibility to periodontitis, as manifested by recurrent or chronic periodontal infection that is unusual in frequency or severity for a healthy individual of the same age Chronic periodontitis Persistent periodontitis human_phenotype HP:5210247 Recurrent periodontitis HP:5210247 PMID:39274292 PMID:39412215 Increased susceptibility to dental abscess, as manifested by a severe or invasive dental abscess with systemic spread or requiring hospitalisation. Disseminated dental abscess Invasive dental abscess Severe tooth abscess human_phenotype HP:5210248 Severe dental abscess HP:5210248 Increased susceptibility to dental abscess, as manifested by recurrent episodes of dental abscesses that are unusual in frequency for a healthy individual of the same age. Chronic dental abscess Persistent dental abscess Recurrent tooth abscesses human_phenotype HP:5210249 Recurrent dental abscesses HP:5210249 Increased susceptibility to infectious stomatitis, as manifested by severe or invasive oral mucosal infection causing necrosis or aphthous ulceration of tissue, or requiring systemic antiviral or antimicrobial therapy. Invasive stomatitis Necrotizing stomatitis Severe infectious stomatitis human_phenotype HP:5210250 Severe stomatitis HP:5210250 PMID:39274292 Increased susceptibility to infectious stomatitis, as manifested by recurrent episodes of oral mucosal infection that are unusual in frequency or severity for a healthy individual of the same age. Chronic stomatitis Persistent stomatitis Recurrent infectious stomatitis human_phenotype HP:5210251 Recurrent stomatitis HP:5210251 Increased susceptibility to oral candidiasis caused by Candida albicans, as manifested by recurrent or severe infection of the oral mucosa, or by oral thrush occurring beyond the neonatal period without an identifiable predisposing cause. Unusual oral candidiasis Unusual oropharyngeal candidiasis human_phenotype HP:5210252 Unusual oral thrush HP:5210252 Increased susceptibility to oral candidiasis, as manifested by severe or invasive oropharyngeal infection with Candida albicans, including extension to the oesophagus or systemic spread. Invasive oral candidiasis Severe oropharyngeal candidiasis human_phenotype HP:5210253 Severe oral thrush HP:5210253 Increased susceptibility to pharyngitis, as manifested by a severe episode of pharyngeal infection requiring hospitalisation or intravenous antimicrobial therapy, or complicated by peritonsillar abscess, retropharyngeal abscess, or invasive spread. Invasive pharyngitis human_phenotype HP:5210254 Principal causative agents include Streptococcus pyogenes (Group A Streptococcus) and Fusobacterium necrophorum. Severe pharyngitis HP:5210254 Increased susceptibility to otitis media, as manifested by a severe episode of middle ear infection requiring hospitalisation, intravenous antibiotics, or surgical intervention, or complicated by mastoiditis, meningitis, or other invasive spread. Complicated otitis media Invasive otitis media human_phenotype HP:5210255 Severe otitis media HP:5210255 Increased susceptibility to otitis externa, as manifested by a severe or invasive infection of the external ear canal, including necrotising (malignant) otitis externa with involvement of surrounding bone or soft tissue. Invasive otitis externa Malignant otitis externa Necrotising otitis externa human_phenotype HP:5210256 Severe otitis externa HP:5210256 Increased susceptibility to otitis externa, as manifested by recurrent episodes of infection of the external ear canal that are unusual in frequency or severity for a healthy individual of the same age. Chronic otitis externa Persistent otitis externa human_phenotype HP:5210257 Recurrent otitis externa HP:5210257 Increased susceptibility to infectious conjunctivitis, as manifested by recurrent or severe infection of the conjunctiva, or by conjunctivitis caused by an atypical or opportunistic organism. Unusual infectious conjunctivitis Unusual susceptibility to conjunctivitis human_phenotype HP:5210258 Principal causative agents in the context of immune deficiency include adenovirus (epidemic keratoconjunctivitis, which may follow a prolonged or severe course in immunocompromised hosts), herpes simplex virus, and enterovirus. Unusual conjunctivitis HP:5210258 Increased susceptibility to infectious conjunctivitis, as manifested by a severe episode with corneal involvement (keratoconjunctivitis), subepithelial infiltrates, or requiring systemic antiviral or antimicrobial therapy. Epidemic keratoconjunctivitis (severe) Invasive conjunctivitis Severe infectious keratoconjunctivitis human_phenotype HP:5210259 Severe conjunctivitis HP:5210259 Increased susceptibility to infectious conjunctivitis, as manifested by recurrent episodes of conjunctival infection that are unusual in frequency for a healthy individual of the same age. Chronic conjunctivitis Persistent conjunctivitis Recurrent infectious conjunctivitis human_phenotype HP:5210260 Recurrent conjunctivitis HP:5210260 Increased susceptibility to infectious keratitis, as manifested by recurrent or severe infection of the cornea, or by keratitis caused by an atypical or opportunistic organism. Unusual corneal infection Unusual herpetic keratitis Unusual infectious keratitis Unusual susceptibility to keratitis human_phenotype HP:5210261 Principal causative agents in the context of immune deficiency include herpes simplex virus (HSV stromal keratitis, with a recurrence rate of 50% in immunodeficient patients) and varicella-zoster virus (herpes zoster ophthalmicus with corneal involvement). Immunodeficiency is a significant independent risk factor for recurrent HSV keratitis. Unusual keratitis HP:5210261 PMID:36921273 PMID:9022115 Increased susceptibility to infectious keratitis, as manifested by a severe episode of corneal infection with stromal involvement, corneal ulceration, perforation, or significant visual impairment. Corneal ulceration due to infection Invasive keratitis Necrotising keratitis Severe herpetic keratitis human_phenotype HP:5210262 Severe keratitis HP:5210262 Increased susceptibility to infectious keratitis, as manifested by recurrent episodes of corneal infection that are unusual in frequency for a healthy individual of the same age. Chronic keratitis Persistent keratitis Recurrent herpes simplex keratitis Recurrent herpetic keratitis human_phenotype HP:5210263 Recurrent HSV keratitis is a hallmark of T-cell immunodeficiency and is associated with progressive corneal scarring and visual loss. Recurrent keratitis HP:5210263 PMID:36921273 PMID:9022115 Increased susceptibility to infectious retinitis, as manifested by recurrent or severe infection of the retina, or by retinitis caused by an atypical or opportunistic organism. Unusual infectious retinitis Unusual susceptibility to retinitis Unusual viral retinitis human_phenotype HP:5210264 The principal causative agent in the context of immune deficiency is cytomegalovirus (CMV retinitis), which is a hallmark of severe T-cell deficiency and combined immunodeficiency. Other agents include VZV (acute retinal necrosis) and HSV. Unusual retinitis HP:5210264 Increased susceptibility to infectious retinitis, as manifested by severe or extensive retinal infection with rapid progression, retinal detachment, or significant visual loss. Invasive retinitis human_phenotype HP:5210265 Severe retinitis HP:5210265 Increased susceptibility to infectious retinitis, as manifested by recurrent episodes of retinal infection that are unusual in frequency for a healthy individual of the same age. Chronic retinitis Persistent retinitis Recurrent infectious retinitis human_phenotype HP:5210266 Recurrent retinitis HP:5210266 A family history (in a first- or second-degree relative) of unusually severe, recurrent, or opportunistic infection. Family history of recurrent infection Family history of severe infection human_phenotype HP:5210267 Family history of unusual infection HP:5210267 A family history (in a first- or second-degree relative) of an immune deficiency. Familiy history of an immunodeficiency Familiy history of primary immunodeficiency disorders (PID) Family history of an inborn error of imunity (IEI) human_phenotype HP:5210268 Family history of immune deficiency HP:5210268 A family history (in a first- or second-degree relative) of an autoimmune disease. Family history of autoimmune disease human_phenotype HP:5210269 Family history of autoimmunity HP:5210269 A family history of death of a first- or second-degree relative caused by infection. Family history of fatal infection human_phenotype HP:5210270 Family history of death due to infection HP:5210270 A family history (in a first- or second-degree relative) of a lymphoma. human_phenotype HP:5210271 A family history of lymphoma may indicate inherited cancer predisposition syndromes, including DNA repair defects, and inborn errors of immunity predisposing to lymphoproliferative disease such as X-linked lymphoproliferative syndrome and ITK deficiency. Family history of lymphoma HP:5210271 A family history (in a first- or second-degree relative) of a leukaemia. human_phenotype HP:5210272 A family history of leukaemia may indicate inherited bone marrow failure syndromes, DNA repair defects, or inborn errors of immunity predisposing to malignancy, including GATA2 deficiency, SAMD9/SAMD9L disorders, and Fanconi anaemia. Family history of leukaemia HP:5210272 A maternal history of recurrent miscarriage, defined as two or more pregnancy losses. Maternal history of recurrent spontaneous abortion human_phenotype HP:5210273 Maternal history of recurrent miscarriage HP:5210273 Death of a sibling that remains unexplained despite investigation, which may indicate an undiagnosed disease in the family. Unexpected sibling death Unexplained death of a sibling human_phenotype HP:5210274 Unexplained sibling death HP:5210274 A reproductive relationship between two individuals who are related by blood as second cousins or closer. In a medical and genetic context, consanguinity increases the coefficient of inbreeding, raising the probability that an offspring will inherit identical alleles from a common ancestor (homozygosity by descent). This significantly increases the risk for autosomal recessive disorders, such as inborn errors of immunity, metabolic diseases, and rare neurodevelopmental syndromes. A history of consanguinity serves as a vital clinical marker for directing diagnostic investigations toward recessive genetic etiologies, especially in the presence of rare phenotypes or unexplained family medical history. human_phenotype HP:5210275 Consanguinity HP:5210275 An osteomyelitis caused by mycobacterial infection, with causative organisms including Mycobacterium tuberculosis, Mycobacterium bovis BCG (typically as a complication of BCG vaccination), and non-tuberculous mycobacteria. human_phenotype HP:5210276 A mycobacterial osteomyelitis can be a manifestation of unusual susceptibility to infection, particularly in Mendelian susceptibility to mycobacterial disease (MSMD) and combined immunodeficiency. Unusual mycobacterial osteomyelitis HP:5210276 Increased susceptibility to infection of bones, joints, or muscles, as manifested by recurrent or severe osteomyelitis, septic arthritis, or infectious myositis, or by musculoskeletal infection caused by an atypical or opportunistic organism. human_phenotype HP:5210277 Recurrent musculoskeletal infections are characteristic of phagocyte defects, sickle cell-related asplenia, and combined immunodeficiencies. Unusual musculoskeletal infection HP:5210277 Increased susceptibility to osteomyelitis of infectious aetiology, as manifested by recurrent or severe bone infection, multifocal osteomyelitis, or osteomyelitis caused by an atypical or opportunistic organism. human_phenotype HP:5210278 Recurrent or multifocal osteomyelitis is a characteristic manifestation of various diseases, such as chronic granulomatous disease, phagocyte defects, innate signaling defects (such as MyD88 or IRAK4 deficiency), IFN-gamma pathway defects, and humoral immunodeficiencies (such as XLA). Unusual infectious osteomyelitis HP:5210278 Increased susceptibility to infection involving lymph nodes or lymphatic vessels, as manifested by recurrent or severe lymphadenitis or lymph node abscess, or by lymphatic infection caused by an atypical or opportunistic organism. human_phenotype HP:5210279 Unusual lymphatic system infection HP:5210279 Infection of the oral cavity including the gingiva, periodontium, teeth, tongue, or oral mucosa that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210280 Unusual oral cavity infection HP:5210280 Infection with attenuated mumps vaccine virus following mumps vaccination, occurring in the context of unusual susceptibility to live viral vaccines. Mumps vaccine virus infection Post-MMR mumps infection human_phenotype HP:5210281 Post-vaccination mumps HP:5210281 Retinitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. CMV retinitis Extensive CMV retinitis Invasive CMV retinitis human_phenotype HP:5210282 CMV retinitis is an atypical manifestation of cytomegalovirus, most commonly encountered as an opportunistic infection in immunocompromised hosts. Cytomegalovirus retinitis HP:5210282 Pneumonitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. CMV interstitial pneumonia CMV pneumonitis human_phenotype HP:5210283 CMV pneumonitis is an atypical manifestation of cytomegalovirus, most commonly encountered as an opportunistic infection in immunocompromised hosts. Cytomegalovirus pneumonitis HP:5210283 Encephalitis caused by cytomegalovirus (CMV) infection that occurs in the context of unusual susceptibility to infection. CMV encephalitis human_phenotype HP:5210284 CMV encephalitis is an atypical manifestation of cytomegalovirus, most commonly encountered as an opportunistic infection in immunocompromised hosts. Cytomegalovirus encephalitis HP:5210284 Increased susceptibility to Epstein-Barr virus (EBV) infections as manifested by severe or disseminated disease or impaired control of EBV infection. Unusual Epstein-Barr virus infection Unusual susceptibility to EBV human_phenotype HP:5210286 Unusual EBV infection HP:5210286 Haemophagocytic lymphohistiocytosis (HLH) triggered by Epstein-Barr virus infection. EBV-associated HLH EBV-driven haemophagocytic lymphohistiocytosis human_phenotype HP:5210288 EBV-driven HLH HP:5210288 Disseminated infection with herpes simplex virus (HSV), involving multiple organ systems. Invasive HSV infection Severe HSV infection human_phenotype HP:5210290 Disseminated herpes simplex virus infection HP:5210290 Increased susceptibility to herpes simplex virus (HSV) infections as manifested by recurrent episodes of HSV infection. Chronic HSV infection Persistent HSV infection human_phenotype HP:5210291 Recurrent herpes simplex virus infection HP:5210291 Persistent or recurrent detection of adenovirus in the blood that occurs in the context of unusual susceptibility to infection. Chronic adenovirus viraemia Persistent adenovirus viraemia human_phenotype HP:5210293 Persistent adenoviral viraemia is characteristic of T-cell deficiencies, severe combined immunodeficiency, and post-transplant immunosuppression, and may progress to disseminated adenoviral disease. Persistent adenovirus viremia HP:5210293 Colitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210294 Adenoviral colitis is an opportunistic gastrointestinal manifestation characteristic of T-cell deficiencies and immunocompromised hosts, presenting with prolonged or severe diarrhoea, dehydration, and intestinal mucosal injury. Adenovirus colitis HP:5210294 Hepatitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210295 Adenoviral hepatitis is an opportunistic manifestation seen in T-cell deficiencies and post-transplant patients, and may present with elevated transaminases, coagulopathy, or fulminant hepatic failure. Adenovirus hepatitis HP:5210295 Encephalitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210296 Adenoviral encephalitis is a rare but severe opportunistic manifestation typically seen in severe T-cell deficiencies and immunocompromised hosts, presenting with seizures, focal neurological deficits, or altered consciousness. Adenovirus encephalitis HP:5210296 Pneumonitis caused by adenovirus infection that occurs in the context of unusual susceptibility to infection. Adenoviral pneumonia human_phenotype HP:5210297 Adenoviral pneumonitis is an opportunistic manifestation characteristic of T-cell deficiencies and stem cell transplant recipients, often presenting with severe hypoxia, diffuse pulmonary infiltrates, and respiratory failure. Adenovirus pneumonitis HP:5210297 Increased susceptibility to varicella (chickenpox) infections as manifested by recurrent episodes of chickenpox infection. Recurrent varicella human_phenotype HP:5210298 Recurrent chickenpox infection HP:5210298 Increased susceptibility to varicella (chickenpox) infections as manifested by a severe or invasive infection with varicella (chickenpox). Disseminated varicella Severe varicella human_phenotype HP:5210299 Severe chickenpox infection HP:5210299 Encephalitis caused by varicella-zoster virus (VZV) infection that occurs in the context of unusual susceptibility to infection. Varicella-zoster virus encephalitis human_phenotype HP:5210301 VZV encephalitis is an opportunistic CNS manifestation characteristic of T-cell deficiencies and may also occur as a complication of severe primary varicella or zoster reactivation, presenting with altered consciousness, seizures, or focal neurological deficits. VZV encephalitis HP:5210301 Pneumonitis caused by varicella-zoster virus (VZV) infection that occurs in the context of unusual susceptibility to infection. VZV pneumonia Varicella-zoster virus pneumonitis human_phenotype HP:5210302 VZV pneumonitis is a severe complication of primary varicella or disseminated zoster, characteristic of T-cell deficiencies and immunosuppressed hosts, and may present with hypoxia, diffuse pulmonary nodular infiltrates, and respiratory failure. VZV pneumonitis HP:5210302 Increased susceptibility to human papillomavirus (HPV) causing warts infections as manifested by recurrent or severe/invasive infection with HPV causing warts, or occurring in an unusual anatomical location. Unusual HPV infection Unusual susceptibility to warts human_phenotype HP:5210303 Unusual warts HP:5210303 Increased susceptibility to human papillomavirus (HPV) manifested by unusually severe, extensive, or invasive warts. Disseminated human papillomavirus infection human_phenotype HP:5210304 Disseminated warts HP:5210304 Increased susceptibility to human papillomavirus (HPV), manifested by recurrent episodes of warts. Recurrent human papillomavirus infection human_phenotype HP:5210305 Recurrent warts HP:5210305 Increased susceptibility to chronic or persistent human papillomavirus (HPV) infection causing warts that fail to clear over an extended period or recur after treatment that occurs in the context of unusual susceptibility to infection. Persistent warts human_phenotype HP:5210306 Chronic warts are characteristic of T-cell deficiencies (DOCK8, GATA2), WHIM syndrome (CXCR4), and epidermodysplasia verruciformis (EVER1, EVER2, CIB1). Chronic warts HP:5210306 Increased susceptibility to Molluscum contagiosum infections as manifested by recurrent episodes of Molluscum contagiosum infection. Chronic Molluscum contagiosum infection Recurrent molluscum human_phenotype HP:5210309 Persistent molluscum infection HP:5210309 Increased susceptibility to norovirus infections as manifested by recurrent or severe/invasive infection with norovirus, or occurring in an unusual anatomical location. Unusual susceptibility to norovirus human_phenotype HP:5210310 Unusual norovirus infection HP:5210310 Increased susceptibility to chronic or persistent norovirus infection, as manifested by prolonged viral shedding and recurrent or unremitting gastrointestinal symptoms beyond the typical course of acute infection. Persistent norovirus infection Recurrent norovirus infection human_phenotype HP:5210312 Chronic norovirus infection is characteristic of antibody deficiencies (CVID, X-linked agammaglobulinaemia) and combined immunodeficiencies, and may cause persistent diarrhoea, malabsorption, and failure to thrive. Chronic norovirus infection HP:5210312 Hepatitis caused by Aichi virus infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210313 Aichi virus hepatitis has been described as a rare opportunistic manifestation in patients with primary antibody deficiencies and severe combined immunodeficiency, and represents a clinically distinct gastrointestinal/hepatic viral infection in IEI. Unusual Aichi virus hepatitis HP:5210313 Increased susceptibility to enterovirus infections as manifested by recurrent or severe/invasive infection with enterovirus, or occurring in an unusual anatomical location. Unusual susceptibility to enterovirus human_phenotype HP:5210314 Unusual enterovirus infection HP:5210314 Infection of the central nervous system by enterovirus that occurs in the context of unusual susceptibility to infection. Enteroviral CNS infection Enteroviral meningoencephalitis human_phenotype HP:5210315 Enteroviral CNS infection, including chronic enteroviral meningoencephalitis, is a hallmark of X-linked agammaglobulinaemia and other antibody deficiencies, and may present with progressive neurological deterioration, dermatomyositis-like syndrome, or fatal meningoencephalitis. Enteroviral central nervous system infection HP:5210315 Sepsis or sepsis-like syndrome caused by enterovirus infection that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210316 Enteroviral sepsis is a severe systemic manifestation typically seen in neonates, patients with antibody deficiencies, or immunocompromised hosts, presenting with multi-organ involvement, haemodynamic instability, and high mortality. Enteroviral sepsis HP:5210316 Increased susceptibility to astrovirus infections as manifested by recurrent or severe/invasive infection with astrovirus, or occurring in an unusual anatomical location. Unusual susceptibility to astrovirus human_phenotype HP:5210317 Unusual astrovirus infection HP:5210317 Disseminated infection with astrovirus involving organs beyond the gastrointestinal tract that occurs in the context of unusual susceptibility to infection. human_phenotype HP:5210318 Disseminated astrovirus infection is a rare opportunistic manifestation described primarily in severe combined immunodeficiency and post-transplant patients, and may present with viraemia, encephalitis, or multi-organ involvement. Disseminated astrovirus infection HP:5210318 Infection of the central nervous system by astrovirus that occurs in the context of unusual susceptibility to infection. Astrovirus CNS infection CNS encephalitis due to astrovirus human_phenotype HP:5210319 Astroviral CNS infection, typically presenting as encephalitis or meningoencephalitis, has been described as a rare but recognised manifestation in patients with severe combined immunodeficiency and primary antibody deficiencies. Astrovirus central nervous system infection HP:5210319 Increased susceptibility to influenza virus infections as manifested by recurrent or severe/invasive infection with influenza virus. Unusual susceptibility to influenza human_phenotype HP:5210320 Unusual influenza infection HP:5210320 Persistent or recurrent detection of influenza virus in the blood or prolonged shedding in respiratory secretions that occurs in the context of unusual susceptibility to infection. Persistent influenza viraemia Persitent influenza viraema human_phenotype HP:5210321 Persistent influenza infection is characteristic of T-cell deficiencies and immunocompromised hosts, and may be associated with prolonged respiratory illness, antiviral resistance, and severe lower respiratory tract complications. Persitent influenza viremia HP:5210321 Increased susceptibility to parainfluenza virus infections as manifested by recurrent or severe/invasive infection with parainfluenza virus. human_phenotype HP:5210323 Unusual parainfluenza infection HP:5210323 Increased susceptibility to parainfluenza virus infections as manifested by recurrent episodes of parainfluenza virus infection. Chronic parainfluenza infection Persistent parainfluenza infection Recurrent parainfluenza infection human_phenotype HP:5210325 Recurrent parainfluenza virus infection HP:5210325 A persistent SARS-CoV-2 infection with prolonged active viral replication and continuous detection of virus beyond the typical duration of acute COVID-19, typically lasting several weeks or longer, often with culturable virus and intra-host viral evolution. A chronic COVID-19 infection is distinct from post-acute sequelae of SARS-CoV-2 infection (long COVID), which represents a post-infectious syndrome after viral clearance, and from recurrent COVID-19 reinfections, which are common in the general population. Chronic COVID-19 Persistent COVID-19 Persistent SARS-CoV-2 infection Protracted COVID-19 human_phenotype HP:5210326 A chronic COVID-19 infection can be a manifestation of unusual susceptibility to infection, particularly in B-cell-depleted patients (following rituximab, anti-CD20 therapy, CAR-T cell therapy, or hematopoietic stem cell transplantation), antibody deficiencies, and combined immunodeficiencies. Chronic SARS-CoV-2 infection HP:5210326 PMID:34796242 PMID:36407883 PMID:39039440 A severe infection caused by a seasonal coronavirus (HCoV-229E, HCoV-OC43, HCoV-NL63, or HCoV-HKU1), characterized by lower respiratory tract involvement, hypoxia, or systemic illness beyond that typically seen with these viruses in immunocompetent hosts. Invasive seasonal coronavirus infection Severe HCoV infection Severe HCoV-229E infection Severe HCoV-HKU1 infection Severe HCoV-NL63 infection Severe HCoV-OC43 infection Severe common cold coronavirus infection human_phenotype HP:5210328 A severe seasonal coronavirus infection can be a manifestation of unusual susceptibility to infection, particularly in T-cell deficiencies and post-hematopoietic-stem-cell-transplant patients. Severe seasonal coronavirus infection HP:5210328 PMID:17346212 PMID:34339073 PMID:17346212 PMID:34339073 A persistent infection with a seasonal coronavirus (HCoV-229E, HCoV-OC43, HCoV-NL63, or HCoV-HKU1) with prolonged active viral replication beyond the typical duration of acute infection. Chronic HCoV infection Persistent HCoV shedding Persistent seasonal coronavirus infection Prolonged HCoV shedding human_phenotype HP:5210329 A chronic seasonal coronavirus infection can be a manifestation of unusual susceptibility to infection, particularly in antibody deficiencies and combined immunodeficiencies. Chronic seasonal coronavirus infection HP:5210329 PMID:34339073 Increased susceptibility to human herpesvirus 6 (HHV-6) infections as manifested by recurrent or severe/invasive infection with HHV-6, or occurring in an unusual anatomical location, such as the brain. Unusual human herpesvirus 6 infection human_phenotype HP:5210330 Unusual HHV6 infection HP:5210330 Increased susceptibility to human herpesvirus 8 (HHV-8) infections as manifested by recurrent or severe/invasive infection with HHV-8, or occurring in an unusual anatomical location. Unusual Kaposi's sarcoma-associated herpesvirus infection human_phenotype HP:5210331 Unusual or severe HHV-8 infections, including Kaposi sarcoma, are primarily associated with severe T-cell deficiencies (both primary and secondary) and CD4 T-cell lymphopenia. This phenotype has also been specifically described in cases of Wiskott-Aldrich syndrome. Unusual HHV8 infection HP:5210331 Nephropathy caused by BK polyomavirus infection that occurs in the context of unusual susceptibility to infection. BK nephropathy BK polyomavirus nephropathy Nephropathy caused by a Human polyomavirus 1 infection human_phenotype HP:5210332 BK virus nephropathy is an opportunistic manifestation characteristic of solid organ transplant recipients (particularly renal transplant) and hematopoietic stem cell transplant patients, presenting with progressive renal dysfunction and tubulointerstitial nephritis. BK virus nephropathy HP:5210332 Encephalitis caused by BK polyomavirus infection that occurs in the context of unusual susceptibility to infection. BK encephalitis Encephalitis caused by a Human polyomavirus 1 infection human_phenotype HP:5210333 BK virus encephalitis is a rare opportunistic CNS manifestation typically seen in severe T-cell deficiencies and post-transplant patients. It may also present as Progressive Multifocal Leukoencephalopathy (PML), involving either BK or JC polyomavirus, and has been specifically described in cases of Hyper-IgM syndrome and DOCK8 deficiency. Clinical presentations often include altered consciousness, seizures, or focal neurological deficits. BK virus encephalitis HP:5210333 Increased susceptibility to JC polyomavirus infections as manifested by recurrent or severe/invasive infection with JC polyomavirus, or occurring in an unusual anatomical location. Unusual Human Polyomavirus 2 infection Unusual JC polyomavirus infection human_phenotype HP:5210334 Unusual JC virus infection HP:5210334 Nephropathy caused by JC polyomavirus infection that occurs in the context of unusual susceptibility to infection. JC polyomavirus nephropathy JC virus nephropathy Nephropathy caused by a Human polyomavirus 2 infection human_phenotype HP:5210335 JC virus nephropathy is a rare opportunistic manifestation described in T-cell deficiencies and post-transplant patients, presenting with progressive renal dysfunction and tubulointerstitial inflammation. JC nephropathy HP:5210335 Encephalitis caused by JC polyomavirus infection, typically presenting as progressive multifocal leukoencephalopathy (PML). Encephalitis caused by a Human polyomavirus 2 infection JC virus encephalitis Progressive multifocal leukoencephalopathy (PML) human_phenotype HP:5210336 JC virus encephalitis is an opportunistic CNS infection typically seen in severe T-cell deficiencies and post-transplant patients. It often presents as Progressive Multifocal Leukoencephalopathy (PML) and has been specifically described in DOCK8 deficiency and Hyper-IgM syndrome. Clinical manifestations typically include progressive neurological deficits, cognitive impairment, and ataxia. JC encephalitis HP:5210336 Granulomatous inflammation with multiple granuloma formation attributable to a causative infectious agent, including bacteria, mycobacteria, fungi, or parasites. human_phenotype HP:5210337 Infectious granulomatosis HP:5210337 PMID:11217431 Granulomatous inflammation involving the formation of multiple granulomas not attributable to a causative infectious agent, arising in the context of immune dysregulation, foreign-body reactions or idiopathic. human_phenotype HP:5210338 Non-infectious granulomatosis HP:5210338 PMID:11217431 Granulomatous inflammation characterized by the formation of multiple granulomas exhibiting caseation necrosis, in which the necrotic tissue acquires an amorphous, cheese-like appearance. Necrotizing granulomatosis human_phenotype HP:5210339 Caseating granulomatosis HP:5210339 PMID:17257125 Granulomatous inflammation characterized by the formation of multiple granulomas without central caseation necrosis. Non-necrotizing granulomatosis human_phenotype HP:5210340 Non-caseating granulomatosis HP:5210340 PMID:17257125 An interstitial lung disease, characterized by lymphocytic infiltration and/or granulomatous inflammation of the lung after exclusion of infection and alternative causes, often associated with multisystem inflammatory or granulomatous disease in patients with common variable immunodeficiency (CVID). GLILD Granulomatous-lymphocytic interstitial lung disease human_phenotype HP:5210341 Granulomatous lymphocytic interstitial lung disease HP:5210341 PMID:33777011 Lymph node enlargement resulting from granulomatous inflammation, characterized by compact aggregates of epithelioid macrophages and giant cells within the lymph node parenchyma. human_phenotype HP:5210342 Granulomatous lymphadenopathy HP:5210342 PMID:41383541 PMID:41383541 A non-infectious inflammatory granulomatous dermatosis characterized by annular or disseminated erythematous plaques resulting from palisading granulomas with central mucin deposition in the dermis. human_phenotype HP:5210343 Granuloma annulare HP:5210343 PMID:38902812 PMID:38902812 Inflammation of the synovial membrane characterized by granuloma formation within synovial tissue, consisting of aggregates of epithelioid histiocytes with or without multinucleated giant cells. human_phenotype HP:5210344 Granulomatous synovitis HP:5210344 PMID:27638825 PMID:27638825 Uveitis characterized by granulomatous inflammatory pattern of the uveal tract, with clinical findings that may include large keratic precipitates, iris nodules, or other signs of intraocular granulomatous inflammation. human_phenotype HP:5210345 Granulomatous uveitis HP:5210345 PMID:37438949 PMID:37438949 Inflammation of the gingiva characterized by granulomatous tissue reaction, with compact aggregates of epithelioid histiocytes and multinucleate giant cells within the gingival lamina propria. human_phenotype HP:5210346 Granulomatous gingivitis HP:5210346 PMID:11422592 PMID:11422592 Inflammation of the iris characterized by granulomatous tissue reaction, with compact aggregates of mononuclear phagocytes within the iris stroma. human_phenotype HP:5210347 Granulomatous iritis HP:5210347 PMID:9508240 PMID:9508240 An increased susceptibility to Burkholderia pseudomallei infections as manifested by a recurrent or severe/invasive infection with Burkholderia pseudomallei, or occurring in an unusual anatomical location. Unusual melioidosis Unusual susceptibility to Burkholderia pseudomallei human_phenotype HP:5210348 Unusual Burkholderia pseudomallei infection HP:5210348 An increased susceptibility to coagulase-negative staphylococci infections as manifested by a recurrent or severe/invasive infection with coagulase-negative staphylococci, or occurring in an unusual anatomical location. Unusual CoNS infection Unusual Staphylococcus epidermidis infection Unusual coagulase-negative staphylococci infection Unusual susceptibility to coagulase-negative staphylococci human_phenotype HP:5210349 Unusual coagulase-negative Staphylococcus infection HP:5210349 An increased susceptibility to coagulase-negative staphylococci infections as manifested by recurrent episodes of coagulase-negative staphylococci infection. Chronic coagulase-negative staphylococcus infection Persistent coagulase-negative staphylococcus infection Recurrent CoNS infection Recurrent Staphylococcus epidermidis infection human_phenotype HP:5210350 Recurrent coagulase-negative Staphylococcus infection HP:5210350 An increased susceptibility to coagulase-negative staphylococci infections as manifested by a severe or invasive infection with coagulase-negative staphylococci. Disseminated coagulase-negative staphylococcus infection Invasive coagulase-negative staphylococcus infection Severe CoNS infection Severe Staphylococcus epidermidis infection human_phenotype HP:5210351 Severe coagulase-negative Staphylococcus infection HP:5210351 An increased susceptibility to Enterococcus faecalis infections as manifested by a recurrent or severe/invasive infection with Enterococcus faecalis, or occurring in an unusual anatomical location. Unusual susceptibility to Enterococcus faecalis human_phenotype HP:5210352 Unusual Enterococcus faecalis infection HP:5210352 An increased susceptibility to Enterococcus faecalis infections as manifested by recurrent episodes of infection with this pathogen. Chronic Enterococcus faecalis infection Persistent Enterococcus faecalis infection Recurrent susceptibility to Enterococcus faecalis human_phenotype HP:5210353 Recurrent Enterococcus faecalis infection HP:5210353 An increased susceptibility to Enterococcus faecalis infections as manifested by a severe or invasive infection with Enterococcus faecalis. Disseminated Enterococcus faecalis infection Invasive Enterococcus faecalis infection human_phenotype HP:5210354 Severe Enterococcus faecalis infection HP:5210354 An increased susceptibility to Enterococcus faecium infections as manifested by a recurrent or severe/invasive infection with Enterococcus faecium, or occurring in an unusual anatomical location. Unusual VRE infection Unusual susceptibility to Enterococcus faecium Unusual vancomycin-resistant Enterococcus faecium infection human_phenotype HP:5210355 Unusual Enterococcus faecium infection HP:5210355 An increased susceptibility to Enterococcus faecium infections as manifested by recurrent episodes of infection with this pathogen. Chronic Enterococcus faecium infection Persistent Enterococcus faecium infection Recurrent VRE infection Recurrent susceptibility to Enterococcus faecium human_phenotype HP:5210356 Recurrent Enterococcus faecium infection HP:5210356 An increased susceptibility to Enterococcus faecium infections as manifested by a severe or invasive infection with Enterococcus faecium. Disseminated Enterococcus faecium infection Invasive Enterococcus faecium infection Severe VRE infection human_phenotype HP:5210357 Severe Enterococcus faecium infection HP:5210357 An increased susceptibility to viridans group streptococci infections as manifested by a recurrent or severe/invasive infection with viridans group streptococci, or occurring in an unusual anatomical location. Unusual Streptococcus viridans infection Unusual susceptibility to viridans streptococci Unusual viridans group streptococci infection Unusual viridans streptococcal infection human_phenotype HP:5210358 Unusual Viridans Streptococci infection HP:5210358 An endocarditis caused by infection with viridans group streptococci, which are a characteristic causative agent of subacute bacterial endocarditis. Subacute bacterial endocarditis due to viridans streptococci Viridans streptococci endocarditis human_phenotype HP:5210359 Endocarditis caused by Streptococcus viridans infection HP:5210359 A liver abscess caused by infection with viridans group streptococci, which may arise from hematogenous spread, biliary infection, or contiguous spread. Hepatic abscess due to Streptococcus viridans Viridans streptococci liver abscess human_phenotype HP:5210360 Liver abscess due to Streptococcus viridans HP:5210360 An increased susceptibility to Mycobacterium abscessus infections as manifested by a recurrent or severe/invasive infection with Mycobacterium abscessus, or occurring in an unusual anatomical location. Unusual M. abscessus infection Unusual rapid-grower mycobacterial infection Unusual susceptibility to Mycobacterium abscessus human_phenotype HP:5210361 Unusual Mycobacterium abscessus infection HP:5210361 An increased susceptibility to Mycobacterium abscessus infections as manifested by recurrent episodes of infection with this pathogen. Chronic Mycobacterium abscessus infection Persistent Mycobacterium abscessus infection Recurrent M. abscessus infection human_phenotype HP:5210362 Recurrent Mycobacterium abscessus infection HP:5210362 An increased susceptibility to Mycobacterium abscessus infections as manifested by a severe or invasive infection with Mycobacterium abscessus. Disseminated Mycobacterium abscessus infection Invasive Mycobacterium abscessus infection human_phenotype HP:5210363 Severe Mycobacterium abscessus infection HP:5210363 An increased susceptibility to Mycobacterium avium complex infections as manifested by a recurrent or severe/invasive infection with Mycobacterium avium complex, or occurring in an unusual anatomical location. Unusual M. avium complex infection Unusual MAC infection Unusual susceptibility to Mycobacterium avium complex human_phenotype HP:5210364 Unusual Mycobacterium avium complex infection HP:5210364 An increased susceptibility to Mycobacterium avium complex infections as manifested by recurrent episodes of infection with this pathogen. Chronic MAC infection Persistent Mycobacterium avium complex infection Recurrent MAC infection human_phenotype HP:5210365 Recurrent Mycobacterium avium complex infection HP:5210365 An increased susceptibility to Mycobacterium avium complex infections as manifested by a severe or invasive infection with Mycobacterium avium complex. Disseminated MAC Disseminated Mycobacterium avium complex infection Invasive MAC infection human_phenotype HP:5210366 Severe Mycobacterium avium complex infection HP:5210366 An increased susceptibility to Mycoplasma infections as manifested by a recurrent or severe/invasive infection with Mycoplasma, or occurring in an unusual anatomical location. Unusual Mycoplasma pneumoniae infection Unusual Mycoplasma spp infection Unusual susceptibility to Mycoplasma human_phenotype HP:5210367 Unusual Mycoplasma infection HP:5210367 An increased susceptibility to Mycoplasma infections as manifested by recurrent episodes of infection with this pathogen. Chronic Mycoplasma infection Persistent Mycoplasma infection Recurrent Mycoplasma pneumoniae infection human_phenotype HP:5210368 Recurrent Mycoplasma infection HP:5210368 An increased susceptibility to Mycoplasma infections as manifested by a severe or invasive infection with Mycoplasma. Disseminated Mycoplasma infection Invasive Mycoplasma infection human_phenotype HP:5210369 Severe Mycoplasma infection HP:5210369 An increased susceptibility to Ureaplasma infections as manifested by a recurrent or severe/invasive infection with Ureaplasma, or occurring in an unusual anatomical location. Unusual Ureaplasma urealyticum infection Unusual susceptibility to Ureaplasma human_phenotype HP:5210370 Unusual Ureaplasma infection HP:5210370 An infection of the lungs caused by Cryptococcus species, which is the most common entry portal for cryptococcal disease and may present as nodules, consolidation, or interstitial infiltrates. Cryptococcus lung infection Lung cryptococcosis Pulmonary cryptococcal infection human_phenotype HP:5210371 A pulmonary cryptococcosis can be a manifestation of unusual susceptibility to infection, particularly in severe T-cell deficiencies, idiopathic CD4 lymphopenia, and anti-GM-CSF autoantibody syndromes. Pulmonary cryptococcosis HP:5210371 A granulomatous mass-like lesion caused by Cryptococcus infection, which may occur in the lung, brain, skin, or other organs. Cryptococcal granuloma Cryptococcal mass lesion Cryptococcal pseudotumour human_phenotype HP:5210372 A cryptococcoma can be a manifestation of unusual susceptibility to infection, particularly in T-cell deficiencies and immunosuppressed hosts. Cryptococcoma HP:5210372 An increased susceptibility to Mucorales infections as manifested by a recurrent or severe/invasive infection with Mucorales, or occurring in an unusual anatomical location. Unusual Mucorales infection Unusual mucor infection Unusual susceptibility to Mucorales Unusual zygomycosis human_phenotype HP:5210373 Unusual mucormycosis HP:5210373 An increased susceptibility to Talaromyces marneffei infections as manifested by a recurrent or severe/invasive infection with Talaromyces marneffei, or occurring in an unusual anatomical location. Unusual Penicillium marneffei infection Unusual penicilliosis Unusual susceptibility to Talaromyces marneffei Unusual talaromycosis human_phenotype HP:5210374 Unusual Talaromyces marneffei infection HP:5210374 An increased susceptibility to dermatophytes infections as manifested by a recurrent or severe/invasive infection with dermatophytes, or occurring in an unusual anatomical location. Unusual Trichophyton infection Unusual deep dermatophytosis Unusual dermatophytosis Unusual susceptibility to dermatophytes human_phenotype HP:5210375 Unusual dermatophyte infection HP:5210375 An increased susceptibility to dermatophytes infections as manifested by recurrent episodes of infection with this pathogen. Chronic dermatophyte infection Persistent dermatophyte infection Recurrent dermatophytosis human_phenotype HP:5210376 Recurrent dermatophyte infection HP:5210376 An abnormally increased proportion of CD4-positive TEMRA T cells (terminally differentiated effector memory T cells re-expressing CD45RA), relative to total CD4-positive T cells in the blood. These cells have a CD45RA-positive, CD45RO-negative, CCR7-negative phenotype. 2026-06-17T09:37:57Z PMID:34860194 human_phenotype HP:5210377 Increased CD4+ TEMRA T cell proportion HP:5210377 An increased susceptibility to mould infection, as manifested by a recurrent or severe invasive infection with filamentous fungi other than Aspergillus, or by a mould infection caused by an atypical or opportunistic organism. Common causative organisms include Fusarium species, Scedosporium species, and Lomentospora prolificans. Unusual Fusarium infection Unusual Lomentospora prolificans infection Unusual Scedosporium infection Unusual filamentous fungal infection Unusual invasive mould infection Unusual mould infection Unusual non-Aspergillus mould infection Unusual susceptibility to moulds human_phenotype HP:5210378 An invasive mould infection most often occurs in the context of severe immunocompromise, particularly in prolonged neutropenia and post-hematopoietic-stem-cell-transplant patients. Unusual mold infection HP:5210378 Unusual mould infection An increased susceptibility to Blastomyces dermatitidis infections as manifested by a recurrent or severe/invasive infection with Blastomyces dermatitidis, or occurring in an unusual anatomical location. Unusual North American blastomycosis Unusual blastomycosis Unusual susceptibility to Blastomyces dermatitidis human_phenotype HP:5210379 Unusual Blastomyces dermatitidis infection HP:5210379 An increased susceptibility to Blastomyces dermatitidis infections as manifested by recurrent episodes of infection with this pathogen. Chronic blastomycosis Persistent Blastomyces dermatitidis infection Recurrent blastomycosis human_phenotype HP:5210380 Recurrent Blastomyces dermatitidis infection HP:5210380 An increased susceptibility to Blastomyces dermatitidis infections as manifested by a severe or invasive infection with Blastomyces dermatitidis. Disseminated blastomycosis Invasive blastomycosis Severe blastomycosis human_phenotype HP:5210381 Severe Blastomyces dermatitidis infection HP:5210381 An increased susceptibility to Coccidioides infections as manifested by a recurrent or severe/invasive infection with Coccidioides, or occurring in an unusual anatomical location. Unusual Coccidioides immitis infection Unusual Coccidioides posadasii infection Unusual coccidioidomycosis Unusual susceptibility to Coccidioides Unusual valley fever human_phenotype HP:5210382 Unusual Coccidioides infection HP:5210382 An increased susceptibility to Coccidioides infections as manifested by recurrent episodes of infection with this pathogen. Chronic coccidioidomycosis Persistent Coccidioides infection Recurrent coccidioidomycosis human_phenotype HP:5210383 Recurrent Coccidioides infection HP:5210383 An increased susceptibility to Coccidioides infections as manifested by a severe or invasive infection with Coccidioides. Disseminated coccidioidomycosis Invasive coccidioidomycosis Severe coccidioidomycosis human_phenotype HP:5210384 Severe Coccidioides infection HP:5210384 An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by a recurrent or severe/invasive infection with Paracoccidioides brasiliensis, or occurring in an unusual anatomical location. Unusual South American blastomycosis Unusual paracoccidioidomycosis Unusual susceptibility to Paracoccidioides brasiliensis human_phenotype HP:5210385 Unusual Paracoccidioides brasiliensis infection HP:5210385 An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by recurrent episodes of infection with this pathogen. Chronic paracoccidioidomycosis Persistent Paracoccidioides brasiliensis infection Recurrent paracoccidioidomycosis human_phenotype HP:5210386 Recurrent Paracoccidioides brasiliensis infection HP:5210386 An increased susceptibility to Paracoccidioides brasiliensis infections as manifested by a severe or invasive infection with Paracoccidioides brasiliensis. Disseminated paracoccidioidomycosis Invasive paracoccidioidomycosis Severe paracoccidioidomycosis human_phenotype HP:5210387 Severe Paracoccidioides brasiliensis infection HP:5210387 An increased susceptibility to Histoplasma capsulatum infections as manifested by recurrent episodes of infection with this pathogen. Chronic histoplasmosis Persistent Histoplasma capsulatum infection Recurrent histoplasmosis human_phenotype HP:5210389 Recurrent Histoplasma capsulatum infection HP:5210389 An increased susceptibility to Candida auris infections as manifested by a recurrent or severe/invasive infection with Candida auris, or occurring in an unusual anatomical location. Unusual C. auris infection Unusual susceptibility to Candida auris human_phenotype HP:5210391 Unusual Candida auris infection HP:5210391 An increased susceptibility to chronic or persistent Candida auris infection, as manifested by prolonged infection with this multi-drug-resistant emerging Candida species. Chronic C. auris infection Persistent Candida auris infection Recurrent Candida auris infection human_phenotype HP:5210392 Chronic Candida auris infection HP:5210392 An increased susceptibility to Candida auris infections as manifested by a severe or invasive infection with Candida auris. Candida auris candidaemia Disseminated Candida auris infection Invasive Candida auris infection human_phenotype HP:5210393 Severe Candida auris infection HP:5210393 A hepatitis caused by herpes simplex virus (HSV) infection, which may present as a severe or fulminant hepatitis with elevated transaminases, coagulopathy, and hepatic failure. Fulminant HSV hepatitis HSV hepatitis Herpes simplex virus hepatitis Herpetic hepatitis human_phenotype HP:5210394 An HSV hepatitis can be a manifestation of unusual susceptibility to infection, particularly in T-cell deficiencies, neonates, and immunosuppressed hosts. HSV hepatitis HP:5210394 A meningitis caused by varicella-zoster virus (VZV) infection, which may occur as part of primary varicella, herpes zoster, or zoster sine herpete (without rash). VZV-associated meningitis Varicella-zoster virus meningitis Zoster meningitis human_phenotype HP:5210395 A VZV meningitis can be a manifestation of unusual susceptibility to infection, particularly in T-cell deficiencies and immunosuppressed hosts. VZV meningitis HP:5210395 A molluscum contagiosum lesion exceeding one centimetre in diameter, which may present as an unusually large, persistent, or atypical lesion. Atypical molluscum Giant molluscum contagiosum Large molluscum lesion human_phenotype HP:5210396 A giant molluscum can be a manifestation of unusual susceptibility to infection, particularly in DOCK8 deficiency, GATA2 deficiency, and severe T-cell deficiencies. Giant molluscum HP:5210396 An increased susceptibility to human herpesvirus 7 (HHV-7) infections as manifested by a recurrent or severe/invasive infection with HHV-7, or occurring in an unusual anatomical location. Unusual human herpesvirus 7 infection Unusual susceptibility to HHV-7 human_phenotype HP:5210397 Unusual HHV7 infection HP:5210397 A cystitis caused by BK polyomavirus infection, typically presenting as haemorrhagic cystitis with macroscopic haematuria. BK cystitis BK haemorrhagic cystitis BK polyomavirus cystitis BK virus-associated haemorrhagic cystitis human_phenotype HP:5210398 A BK cystitis can be a manifestation of unusual susceptibility to infection, particularly in hematopoietic stem cell transplant recipients and severely immunocompromised hosts. BK virus cystitis HP:5210398 An increased susceptibility to poliovirus infections as manifested by a recurrent or severe/invasive infection with poliovirus, or occurring in an unusual anatomical location. Unusual chronic poliovirus excretion Unusual iVDPV excretion Unusual immunodeficiency-associated VDPV Unusual susceptibility to poliovirus Unusual vaccine-derived poliovirus (VDPV) infection human_phenotype HP:5210399 Unusual poliovirus infection HP:5210399 A chronic shedding of poliovirus in stool over an extended period, typically following vaccination with live attenuated oral poliovirus vaccine, with viral excretion persisting for months or years. A chronic poliovirus excretion is characteristic of antibody deficiencies including X-linked agammaglobulinaemia and common variable immunodeficiency, in which patients may shed vaccine-derived poliovirus indefinitely. Chronic vaccine-derived poliovirus excretion Immunodeficiency-associated vaccine-derived poliovirus excretion Long-term poliovirus excretion Persistent poliovirus shedding iVDPV excretion human_phenotype HP:5210400 Chronic poliovirus excretion HP:5210400 An increased susceptibility to rotavirus infections as manifested by a recurrent or severe/invasive infection with rotavirus, or occurring in an unusual anatomical location. Severe rotavirus gastroenteritis Unusual susceptibility to rotavirus Unusual vaccine-derived rotavirus infection human_phenotype HP:5210401 Severe rotavirus infection HP:5210401 An increased susceptibility to respiratory syncytial virus (RSV) infections as manifested by a recurrent or severe/invasive infection with RSV, or occurring in an unusual anatomical location. Unusual RSV bronchiolitis Unusual RSV infection Unusual RSV pneumonia Unusual susceptibility to respiratory syncytial virus human_phenotype HP:5210402 Unusual respiratory syncytial virus infection HP:5210402 An increased susceptibility to respiratory syncytial virus (RSV) infections as manifested by a severe or invasive infection with respiratory syncytial virus (RSV). Disseminated RSV infection Invasive RSV infection Severe RSV bronchiolitis Severe RSV infection Severe RSV pneumonia human_phenotype HP:5210403 Severe respiratory syncytial virus infection HP:5210403 An increased susceptibility to chronic or persistent respiratory syncytial virus (RSV) infection, as manifested by prolonged viral shedding and persistent or recurrent respiratory symptoms beyond the typical course of acute infection. Chronic RSV infection Persistent RSV infection Persistent RSV shedding Recurrent RSV infection human_phenotype HP:5210404 Chronic respiratory syncytial virus infection HP:5210404 An increased susceptibility to rhinovirus infections as manifested by a recurrent or severe/invasive infection with rhinovirus, or occurring in an unusual anatomical location. Unusual chronic rhinovirus shedding Unusual human rhinovirus infection Unusual susceptibility to rhinovirus human_phenotype HP:5210405 Chronic rhinovirus infection HP:5210405 An increased susceptibility to human metapneumovirus (hMPV) infections as manifested by a recurrent or severe/invasive infection with hMPV, or occurring in an unusual anatomical location. Unusual hMPV infection Unusual hMPV pneumonia Unusual metapneumovirus infection Unusual susceptibility to human metapneumovirus human_phenotype HP:5210406 Unusual human metapneumovirus infection HP:5210406 An ocular infection caused by Toxoplasma gondii, typically presenting as chorioretinitis with characteristic retinal lesions and potential progression to vision loss. Ocular toxoplasmosis Toxoplasma chorioretinitis Toxoplasma retinitis Toxoplasmic retinochoroiditis human_phenotype HP:5210407 A Toxoplasma eye infection can be a manifestation of unusual susceptibility to infection, particularly in T-cell deficiencies and congenital toxoplasmosis. Toxoplasma eye infection HP:5210407 An adverse disease following vaccination with the Bacillus Calmette-Guérin (BCG) live attenuated Mycobacterium bovis vaccine, ranging from local BCGitis (regional lymphadenitis or injection-site abscess) to disseminated BCGosis. BCG associated disease can be a manifestation of unusual susceptibility to infection, particularly in severe combined immunodeficiency, Mendelian susceptibility to mycobacterial disease (MSMD), and chronic granulomatous disease. Adverse reaction to BCG vaccination BCG vaccine adverse event BCG-itis BCG-osis Disseminated BCG infection human_phenotype HP:5210408 BCG-associated disease HP:5210408 An abnormal proportion of effector memory CD4-positive memory T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype. 2026-06-14T14:32:48Z PMID:22343568 human_phenotype HP:5210409 Abnormal effector memory CD4+ T cell proportion HP:5210409 An abnormal proportion of central memory CD4-positive memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. 2026-06-14T14:33:57Z PMID:22343568 human_phenotype HP:5210410 Abnormal central memory CD4+ T cell proportion HP:5210410 Abnormal decrease of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2026-06-14T15:01:45Z Decreased numbers of circulating T cells Reduced number of T cells human_phenotype HP:5210411 Decreased total T cell number HP:5210411 Abnormal increase of absolute number (either count per volume or proportion of total lymphocytes) of T cells or of a subset of T cells, commonly characterized as CD3+ lymphocytes, in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2026-06-14T15:01:58Z Increase in T cell number human_phenotype HP:5210412 Increased total T cell number HP:5210412 Abnormal decrease in the proportion of T cells, commonly characterized as CD3+ lymphocytes, measured as a percentage of total lymphocytes in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2026-06-14T15:13:46Z Decreased T cell percentage Decreased percentage of CD3+ lymphocytes Reduced proportion of T cells human_phenotype HP:5210413 Decreased total T cell proportion HP:5210413 Abnormal increase in the proportion of T cells, commonly characterized as CD3+ lymphocytes, measured as a percentage of total lymphocytes in the blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. 2026-06-14T15:14:39Z Increased T cell percentage Increased percentage of CD3+ lymphocytes human_phenotype HP:5210414 Increased total T cell proportion HP:5210414 Abnormal decrease of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-15T08:43:24Z human_phenotype HP:5210415 Decreased total CD4+ T cell number HP:5210415 Abnormal increase of absolute number of helper CD3+CD4+ T cells (either count per volume or percentage of total lymphocytes), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-15T08:44:23Z human_phenotype HP:5210416 Increased CD4+ T cell number HP:5210416 Abnormal increase of absolute count of helper CD3+CD4+ T cells (quantified as count per volume), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-15T08:53:50Z CD4 lymphocytosis CD4+ T-cell lymphocytosis Elevated CD4 count Increased absolute CD4 count Increased circulating CD4+ T cell count human_phenotype HP:5210417 Increased total CD4+ T cell count HP:5210417 Abnormal decrease of absolute count of helper CD3+CD4+ T cells (quantified as count per volume), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-15T08:54:14Z CD4 T lymphocytopenia CD4 lymphopenia CD4+ T cell lymphopenia Decreased absolute CD4 count Decreased circulating CD4+ T cell count human_phenotype HP:5210418 Decreased total CD4+ T cell count HP:5210418 A reduction in one or more peripheral blood cell lineages resulting from immune-mediated destruction or impairment caused by an autoimmune process. 2026-06-16T11:54:24Z PMID:39643993 human_phenotype HP:5210419 Autoimmune cytopenia HP:5210419 A severe form of eczema characterised by extensive skin involvement and/or persistent or recurrent symptoms requiring intensive treatment. 2026-06-16T12:04:45Z Persistent eczema PMID:39071193 human_phenotype HP:5210420 Severe eczema HP:5210420 A chronic inflammatory liver disease characterised by immune-mediated hepatocellular injury resulting from an autoimmune process. 2026-06-16T17:26:39Z PMID:31558881 human_phenotype HP:5210421 Autoimmune hepatitis HP:5210421 A disorder of the brain not caused by an infectious agent, characterised by inflammation of the brain parenchyma. It may present with an altered level of consciousness, focal or multifocal neurologic deficits, and seizures; unlike infectious encephalitis, fever is often absent, and autoimmune forms frequently present subacutely with cognitive, psychiatric, or behavioural changes. 2026-06-16T20:02:01Z PMID:32670291 human_phenotype HP:5210422 Non-infectious encephalitis HP:5210422 An inflammation of the brain parenchyma caused by an autoimmune process directed against neuronal or glial antigens. 2026-06-16T20:07:10Z PMID:32670291 human_phenotype HP:5210423 Autoimmune encephalitis HP:5210423 Abnormal increase of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-16T20:33:12Z human_phenotype HP:5210424 Increased total CD8+ T cell number HP:5210424 Abnormal decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-16T20:33:01Z human_phenotype HP:5210425 Decreased total CD8+ T cell number HP:5210425 Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as the total count per volumne in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-16T20:33:51Z CD8 lymphopenia CD8+ T-cell lymphopenia Decreased absolute CD8 count Decreased circulating CD8+ T cell count Low CD8 count human_phenotype HP:5210426 Decreased total CD8+ T cell count HP:5210426 Abnormal increase of cytotoxic CD3+CD8+ T cells, measured as the total count per volumne in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. 2026-06-16T20:33:43Z CD8 lymphocytosis CD8+ T-cell lymphocytosis Elevated CD8 count Increased absolute CD8 count human_phenotype HP:5210427 Increased total CD8+ T cell count HP:5210427 Infection of the lung parenchyma with herpes simplex virus, resulting in inflammation of the lung parenchyma with impaired respiratory function. 2026-06-17T15:06:02Z PMID:6293356 Herpes simplex pneumonia Herpes simplex virus pneumonia Pneumonia due to herpes simplex virus human_phenotype HP:5210428 HSV pneumonia HP:5210428 Recurrent episodes of conjunctivitis caused by infection with Haemophilus influenzae, characterised by inflammation of the conjunctiva associated with conjunctival injection and purulent ocular discharge. 2026-06-19T07:25:49Z PMID:2310724 human_phenotype HP:5210429 Recurrent or severe Haemophilus influenzae infections are commonly reported in patients with primary antibody deficiencies and may represent an important clue to an underlying defect in humoral immunity. Recurrent Haemophilus influenzae conjunctivitis HP:5210429 A structural deformity of the hindfoot, the posterior region of the foot formed by the talus and calcaneus. 2026-06-19T09:35:01Z PMID:20591885 Rearfoot deformity human_phenotype HP:5210430 Hindfoot deformity HP:5210430 A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy. 2023-12-10T15:56:14Z Left-right confusion Right-left confusion Right-left disorientation human_phenotype HP:6000000 Some suggest that a tendency to mix up left and right of an examiner's body space is a more reliable feature sensitive. Left-right disorientation HP:6000000 A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy. PMID:19903731 The concentration of DNAJB9 in the blood circulation is above the upper limit of normal. 2023-12-10T15:56:14Z DNAJB9 protein level in serum elevated Elevated DnaJ homolog subfamily B member 9 concentration Elevated DnaJ homolog subfamily B member 9 level Elevated DnaJ homolog subfamily B member 9 level in blood Elevated circulating DNAJB9 concentration Increased DnaJ homolog subfamily B member 9 concentration Increased DnaJ homolog subfamily B member 9 level Increased DnaJ homolog subfamily B member 9 level in blood human_phenotype HP:6000001 DNAJB9 is a proteomic tissue biomarker for fibrillary glomerulonephritis. Elevated circulating DNAJB9 concentration HP:6000001 A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow. 2023-12-11T15:55:33Z human_phenotype HP:6000002 The olecranon is the proximal articular portion of the ulna. Along with the coronoid process, it forms the greater sigmoid (semilunar) notch which articulates with the humerus to provide flexion and extension of the elbow. Olecranon fracture HP:6000002 A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow. PMID:30725980 Past medical history of surgical breast removal. 2023-12-11T17:50:11Z human_phenotype HP:6000003 History of mastectomy HP:6000003 A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. 2023-12-11T17:50:11Z human_phenotype HP:6000004 Lymphangiosarcoma HP:6000004 A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. PMID:22682884 Aspiration or inhalation of lipid-containing products. 2023-12-11T17:50:11Z human_phenotype HP:6000005 Exogenous lipoid pneumonia is caused by aspiration or inhalation of lipid-containing products. In the past, the most common agents included mineral oil-based laxatives and nasal decongestants. Other causes include inhalation of petroleum jelly used as a lubricant, e.g., tracheostomy care. The incidence of exogenous lipoid pneumonia is growing exponentially in all age groups secondary to the phenomenon termed vaping. In the latter case, consider the term Electronic cigarette exposure histor (HP:0430032). Exposure to inhaled lipids HP:6000005 Symmetric poikiloderma of hips and lateral thighs below the greater trochanter. 2023-12-11T17:50:11Z human_phenotype HP:6000006 The Holster sign may indicate dermatomyositis. Holster sign HP:6000006 Symmetric poikiloderma of hips and lateral thighs below the greater trochanter. PMID:31279808 PMID:32644343 A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors. 2023-12-11T18:21:51Z human_phenotype HP:6000007 Thee most frequent location of basal cell adenoma (BCA) of the salivary gland is the parotid gland. It usually appears as a firm and mobile slow-growing mass. Histologically, isomorphic cells in nests and interlaced trabecules with a prominent basal membrane are observed. In contrast to pleomorphic adenoma, it tends to be multiple and its recurrence rate after surgical excision is high. Salivary basal cell adenoma HP:6000007 A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors. PMID:26693465 Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury. 2023-12-11T18:21:51Z Elevated hemidiaphragm human_phenotype HP:6000008 Hemidiaphragm elevation HP:6000008 Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury. PMID:32644681 The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment. 2023-12-11T18:21:51Z human_phenotype HP:6000009 The cerebriform connective tissue nevus is frequently observed in patients with Proteus syndrome and it is an important specific criterion for diagnosis. Cerebriform connective tissue nevus HP:6000009 The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment. PMID:20709429 Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko. 2023-12-12T10:02:35Z human_phenotype HP:6000010 Blaschko's lines are attributed to the migration lines of epidermal cells during embryogenesis and are characterized by a V-shaped pattern on the posterior midline, S-shape on the abdomen, and spiral on the posterior scalp. Linear Hyperpigmentation along Blaschko's lines HP:6000010 Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko. PMID:33447068 The experience of remorse, self-reproach, or perceived culpability for a real or perceived unfavorable outcome. Guilt may be proportionate to the context or disproportionate, and it may occur in the absence of an identifiable act, event, or offense. It reflects the interplay of cognitive processes, such as judgments about responsibility, and emotional responses, which can lead to persistent rumination or preoccupation. Guilt may extend to situations outside the individual's control and, in some cases, be accompanied by inaccurate or exaggerated beliefs about one's role in an outcome. 2023-12-12T10:02:35Z Inappropriate sense of responsibility Self-blame Unfounded sense of culpability Excessive self-reproach Unwarranted self-blame Obsessive remorse over imagined wrongs Unrealistic self-blame human_phenotype Feelings of worthlessness HP:6000011 The individuals frequently feel they have violated their own, or universal, moral standards. Guilt often reflects a relationship between disordered thinking or cognitive processes (such as cognitive distortions) and emotional dysregulation resulting in persistent ruminations or preoccupations of remorse and shame. In severe cases, guilt may be associated with delusional beliefs, as seen in psychotic depression. Guilt HP:6000011 The experience of remorse, self-reproach, or perceived culpability for a real or perceived unfavorable outcome. Guilt may be proportionate to the context or disproportionate, and it may occur in the absence of an identifiable act, event, or offense. It reflects the interplay of cognitive processes, such as judgments about responsibility, and emotional responses, which can lead to persistent rumination or preoccupation. Guilt may extend to situations outside the individual's control and, in some cases, be accompanied by inaccurate or exaggerated beliefs about one's role in an outcome. PMID:1583590 PMID:20451312 PMID:31707184 PMID:8204541 Feelings of worthlessness A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes. 2023-12-12T10:02:35Z human_phenotype HP:6000012 Since the pleural cavity is confined by the rib cage, large pleural effusion may push the structures in the thoracic cavity to the opposite side resulting in a shift of the upper and lower mediastinum. Other etiologies are also observed. See Figures 1 and 2 of PMID:35990927 or Figure 1 of PMID:37680422. Mediastinal shift HP:6000012 A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes. PMID:35990927 PMID:37680422 Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward. 2023-12-13T18:40:33Z human_phenotype HP:6000013 Bendopnea is mediated by increased ventricular filling pressure during bending, which exacerbates an already high filling pressure in patients with heart failure. Bendopnea HP:6000013 Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward. PMID:31543202 Refers to pain that is worse when the affected individual lies down (flat). 2023-12-13T18:40:33Z Pain worse when lying down human_phenotype HP:6000014 Pain worse when lying flat HP:6000014 Refers to pain that is worse when the affected individual lies down (flat). PMID:31941732 Abnormally increased ability to move of the tympanic membrane. 2023-12-14T11:15:41Z Hypercompliant tympanic membrane human_phenotype HP:6000015 In Stickler syndrome, hypermobility is sometimes associated with thin, visibly hyperflaccid tympanic membranes, which is a common and otoscopically detectable sequela of chronic or recurrent otitis media and/or previous tympanostomy tubes. Hypermobility may also be found with normal appearance tympanic membranes. Tympanic membrane hypermobility HP:6000015 Abnormally increased ability to move of the tympanic membrane. PMID:11556853 PMID:32901364 Concentration of vitamin B12 in the blood circulation above the upper limit of normal. 2023-12-14T11:15:41Z Elevated plasma vitamin B12 level Elevated serum cobalamin level Elevated serum vitamin B12 level human_phenotype HP:6000016 Elevated levels of serum cobalamin may be a sign of a serious, even life-threatening, disease. Hematologic disorders like chronic myelogeneous leukemia, promyelocytic leukemia, polycythemia vera and also the hypereosinophilic syndrome can result in elevated levels of cobalamin. Elevated circulating vitamin B12 concentration HP:6000016 Concentration of vitamin B12 in the blood circulation above the upper limit of normal. PMID:14636871 PMID:20301287 The concentration of sFASL (soluble FASL, soluble FAS-ligand) in the blood circulation is above the upper limit of normal. 2023-12-14T11:15:41Z human_phenotype HP:6000017 The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors. Elevated circulating sFASL concentration HP:6000017 A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation. 2023-12-14T11:15:41Z Anal achalasia human_phenotype HP:6000018 The internal anal sphincter, which is a specialized smooth muscle continuation of the circular muscle layer of rectum, plays a significant role in the maintenance of anorectal continence and in the pathophysiology of incontinence and constipation. Internal anal sphincter achalasia is a clinical condition with presentation similar to Hirschsprung disease but with the presence of ganglion cells on suction rectal biopsy. Internal anal sphincter achalasia HP:6000018 A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation. PMID:19782306 PMID:33301220 History of treatment with an anthracycline chemotherapy agent. 2023-12-14T11:15:41Z human_phenotype HP:6000019 Anthracycline exposure HP:6000019 A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion. 2023-12-14T12:47:02Z human_phenotype HP:6000020 The World Health Organization defines binge drinking (BD) based on a cut-off of six drinks (i.e., 60g of alcohol) or more per occasion. The National Institute on Alcoholism and Alcohol Abuse (NIAAA) defines BD as a pattern of drinking that brings blood alcohol concentration (BAC) levels to 0.08 g/dL, which typically occurs after 4 drinks (i.e., 56 g of alcohol) for women and 5 drinks (i.e., 70 g of alcohol) for men in about 2 hours. Binge drinking HP:6000020 Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes. 2023-12-14T12:47:02Z human_phenotype HP:6000021 Decreased circulating thrombopoietin concentration HP:6000021 Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes. PMID:32150607 A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited. 2023-12-14T12:47:02Z human_phenotype HP:6000022 Collagenoma HP:6000022 A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited. PMID:29445568 Physical activity levels less than those required for optimal health and prevention of premature death. 2023-12-14T12:47:02Z physical inactivity human_phenotype HP:6000023 Lack of sufficient daily physical activity HP:6000023 Physical activity levels less than those required for optimal health and prevention of premature death. PMID:23798298 A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music. 2023-12-14T12:47:02Z human_phenotype HP:6000024 Synesthesia HP:6000024 A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music. PMID:32114456 Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray. 2023-12-28T12:37:45Z Dark earwax Pigmented cerumen human_phenotype HP:6000025 Dark cerumen HP:6000025 Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray. PMID:37395296 A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric. 2023-12-28T12:37:45Z human_phenotype HP:6000026 History of spicy food intake HP:6000026 Brown pigment spots in the limbus (border between the cornea and the sclera). 2023-12-28T12:37:45Z human_phenotype HP:6000027 Oil-drop brown pigmentation of the corneal limbus HP:6000027 Brown pigment spots in the limbus (border between the cornea and the sclera). PMID:24479547 Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving. 2023-12-28T12:37:45Z human_phenotype HP:6000028 Hazardous alcohol use HP:6000028 Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving. PMID:10448769 Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction. 2023-12-28T12:37:45Z human_phenotype HP:6000029 Social anxiety HP:6000029 Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction. PMID:32310350 Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted. 2023-12-28T12:37:45Z human_phenotype HP:6000030 Placidity HP:6000030 Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted. PMID:31334941 Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon. 2023-12-28T12:37:45Z human_phenotype HP:6000031 Invasive disease is rare but remains important due to the ability to cause serious disease in immunocompetent and immunocompromised hosts, unlike other fungal infections such as aspergillosis. Phaeohyphomycosis HP:6000031 Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon. PMID:28217468 PMID:36377664 Hearing one's own voice resonating loudly in the ear. 2023-12-28T12:37:45Z human_phenotype HP:6000032 Autophony HP:6000032 Hearing one's own voice resonating loudly in the ear. PMID:31750425 PMID:34993986 A history of being at high altitude in situations such hiking, mountain climbing, travel to mountains, or air travel. 2023-12-28T12:37:45Z human_phenotype HP:6000033 High altitude exposure HP:6000033 A past medical history of recently being hospitalized. 2023-12-28T12:37:45Z human_phenotype HP:6000034 This may imply a nosocomial infection risk. History of recent hospitalization HP:6000034 Cessation of palpitations can be induced by Valsava maneuver. 2023-12-28T12:37:45Z human_phenotype HP:6000035 In patients who can terminate their palpitations with a Valsalva maneuver, this is thought to indicate possibly a supraventricular tachycardia. Palpitations terminated by Valsava maneuver HP:6000035 Cessation of palpitations can be induced by Valsava maneuver. PMID:28613787 Abnormally long telomeres in somatic cells. 2023-12-28T12:37:45Z Elongated telomeres human_phenotype HP:6000036 Long telomere length HP:6000036 Abnormally long telomeres in somatic cells. PMID:37140166 The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal. 2023-12-28T12:37:45Z Reduced circulating 5-hydroxytryptophan decarboxylase activity Reduced circulating DOPA decarboxylase, activity human_phenotype HP:6000037 Reduced circulating aromatic L-amino acid decarboxylase activity HP:6000037 The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal. PMID:17240182 Abnormal narrowing of the subclavian artery. 2023-12-28T12:37:45Z human_phenotype HP:6000038 Subclavian artery stenosis HP:6000038 Abnormal narrowing of the subclavian artery. PMID:21078767 Cardiac synchronous pulsation on palpation. 2023-12-28T12:37:45Z human_phenotype HP:6000039 A pulsating liver is characteristic of significant tricuspid regurgitation. Systolic pulsations of the liver in patients with primary severe tricuspid regurgitation are due to transmission of a prominent right atrial v wave. Pulsatile liver HP:6000039 Cardiac synchronous pulsation on palpation. PMID:8427187 Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified. 2023-12-28T15:12:28Z human_phenotype HP:6000040 Neuropathic pain can be characterized by pain that is triggered when clothes touch the skin, spontaneous burning that feels like boiling water, bursts of pins and needles(paresthesias) in the feet upon walking , a continuous crushing pain after an amputation as if your phantom foot is being squeezed, or a band of searing pain around the body at the level at whichsensation was lost after a spinal cord injury. Neuropathic pain HP:6000040 Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified. PMID:19400724 A history of repeated exposure to cold water, as may result, for instance, from surfing, diving, kayaking, or swimming. 2023-12-28T15:12:28Z human_phenotype HP:6000041 Repeated cold water exposure HP:6000041 Tinnitus (sound heard by a subjhect when no corresponding external sound is present) that is made worse by swallowing. 2023-12-28T15:12:28Z human_phenotype HP:6000042 During swallowing, the tensor veli palatini (TVP) muscle is activated to assist in elevating the palate. Due to this dual innervation by CNV, the tensor tympani (TT) muscle can be activated and possibly cause tinnitus in some patients. Tinnitus exacerbated by swallowing HP:6000042 Tinnitus (sound heard by a subjhect when no corresponding external sound is present) that is made worse by swallowing. PMID:30085597 Regularly occurring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry. 2023-12-28T15:12:28Z human_phenotype HP:6000043 Rhythmic movements of the tympanic membrane HP:6000043 Regularly occurring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry. PMID:30085597 The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles. 2023-12-28T15:12:28Z Temporal styloid process elongated human_phenotype HP:6000044 Elongated temporal styloid process HP:6000044 The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles. PMID:31082019 Applies to a sign or symptom that is improved or made more bearable by treatment with nitroglycerin. 2023-12-28T15:12:28Z human_phenotype HP:6000045 Ameliorated by nitroglycerin HP:6000045 Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration. 2023-12-28T15:12:28Z Kussmaul pulse Paradoxical pulse Paradoxical pulse volume human_phenotype HP:6000046 Pulsus paradoxus results from alterations in the mechanical forces imposed on the chambers of the heart and pulmonary vasculature and is often due to pericardial disease, particularly cardiac tamponade and to a lesser degree constrictive pericarditis. Pulsus paradoxus HP:6000046 Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration. PMID:29493917 Chest pain can be induced by palpation of the chest, which may be an indication of costochondritis. 2023-12-28T15:12:28Z Chest pain reproducible on palpation human_phenotype HP:6000047 Chest pain triggered by palpation HP:6000047 Discomfort in the chest described as pressure, heaviness, or tightness. 2023-12-28T15:12:28Z human_phenotype HP:6000048 Chest pain described as pressure HP:6000048 Discomfort in the chest described as pressure, heaviness, or tightness. PMID:21250256 Chest pain described as a tearing or ripping sensation. 2023-12-28T15:12:28Z human_phenotype HP:6000049 The pain of aortic dissection may be described as tearing or ripping and does not improve with nitroglycerin. Chest pain described as ripping or tearing HP:6000049 Chest pain described as a tearing or ripping sensation. PMID:21250256 Applies to a sign or symptom that is improved or made more bearable by bending (flexing) a joint. 2023-12-28T15:12:28Z human_phenotype HP:6000050 Ameliorated by flexion HP:6000050 Applies to a finding that is situated or occurring around the thorax (chest). 2023-12-28T15:12:28Z human_phenotype HP:6000051 Located on the chest HP:6000051 Applies to a finding that is situated or occurring in or on the penis. 2023-12-28T15:12:28Z human_phenotype HP:6000052 Localized to the penis HP:6000052 A sonographic snowstorm pattern of the uterus that results from the presence of a complex vesicular intrauterine mass containing many grape-like cysts. 2023-12-28T15:12:28Z human_phenotype HP:6000053 The snowstorm sign is the classic appearance of a complete hydatiform mole. The sign results from multiple hydropic villi and has the ultrasonographic appearance of a central heterogeneous mass with a solid, hyperechoic area together with numerous cystic areas and filling the entire uterine cavity. Snowstorm pattern of uterus on ultrasound HP:6000053 A sonographic snowstorm pattern of the uterus that results from the presence of a complex vesicular intrauterine mass containing many grape-like cysts. PMID:23599844 History of multiple previous births. 2023-12-28T15:12:28Z human_phenotype HP:6000054 Multiparity HP:6000054 History of exposure to aquatic animals. 2023-12-30T09:25:04Z human_phenotype HP:6000055 Mycobacterium marinum is an opportunistic pathogen inducing infection in fresh and marine water fish. Human infections with Mycobacterium marinum have been associated with the exposure of damaged skin to polluted water from fish pools or contacting objects contaminated with infected fish. Fish mycobacteriosis is clinically manifested and characterized in man by purple painless nodules, liable to develop into superficial crusting ulceration with scar formation. Exposure to aquatic animals HP:6000055 History of exposure to aquatic animals. PMID:29493404 Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound. 2023-12-30T09:25:04Z human_phenotype HP:6000056 These lesions are characteristicv of Adiposis dolorosa (Dercum's disease). Superficial blush-like subcutaneous fatty lesions HP:6000056 Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound. PMID:23809264 Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions. 2023-12-30T09:25:04Z Multinucleated giant cells in skin human_phenotype HP:6000057 Dermal multinucleated giant cells HP:6000057 Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions. PMID:25284855 PMID:35478968 Applies to an eyelid lesion such as hemangiomas or varices that swells upon crying. 2023-12-30T09:25:04Z human_phenotype HP:6000058 Exacerbation of eyelid lesion by crying HP:6000058 Applies to an abnormality that is situated in the upper eyelid. 2023-12-30T09:25:04Z Superior palpebral location Upper lid location human_phenotype HP:6000059 Localized to upper eyelid HP:6000059 Repetitive air swallowing and belching and that may result in abdominal distention. 2023-12-30T09:25:04Z human_phenotype HP:6000060 Aerophagia HP:6000060 Repetitive air swallowing and belching and that may result in abdominal distention. PMID:12095473 Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole). 2023-12-30T23:26:21Z Solid tissue passed by the vagina human_phenotype HP:6000061 Vaginal passage of hydatidiform mole tissue HP:6000061 Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole). PMID:29083593 Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic. 2023-12-30T23:26:21Z human_phenotype HP:6000062 Abnormal nipple discharge HP:6000062 Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic. PMID:36335926 The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts. 2023-12-30T23:26:21Z human_phenotype HP:6000063 Hepatolithiasis is benign in nature, but the prognosis is poor due to an association with recurrent cholangitis, biliary strictures, liver abscesses, and atrophy or cirrhosis of the affected liver. Hepatolithiasis is also a known risk factor for intrahepatic cholangiocarcinoma. Hepatolithiasis HP:6000063 The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts. PMID:26730152 Abnormally frequent belching (expelling gas noisily from the stomach through the mouth). 2023-12-30T23:26:21Z Excessive belching Excessive burping human_phenotype HP:6000064 Excessive eructation HP:6000064 Excessive belching Excessive burping Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen. 2023-12-30T23:26:21Z human_phenotype HP:6000065 Esophageal fibrosis HP:6000065 Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen. PMID:18161745 PMID:33230074 This term refers to pain that is triggered by extending (straightening) the leg. 2023-12-30T23:26:21Z Straight leg raising produces pain human_phenotype HP:6000066 This feature may suggest spinal problems such as spinal epidural abscess. Triggered by extension of leg HP:6000066 Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal. 2023-12-30T23:26:21Z human_phenotype HP:6000067 Increased myocardial pyrophosphate uptake HP:6000067 Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal. PMID:22149423 Refers to a sign or symptom that is improved or made more bearable by anesthetic block of a nerve. 2023-12-30T23:26:21Z human_phenotype HP:6000068 Ameliorated by nerve block HP:6000068 Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal. 2023-12-30T23:26:21Z human_phenotype HP:6000069 Brief tear break-up time HP:6000069 Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal. PMID:30481808 A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material. 2023-12-30T23:26:21Z human_phenotype HP:6000070 Cutaneous granuloma HP:6000070 A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material. PMID:36902053 Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer). 2023-12-30T23:26:21Z human_phenotype HP:6000071 Heterotopic dermal ossification HP:6000071 The depth of the outer muscular layer of the small bowel is below the lower limit of normal. 2023-12-30T23:26:21Z human_phenotype HP:6000072 Thinning of outer muscular layer of small bowel HP:6000072 The depth of the outer muscular layer of the small bowel is below the lower limit of normal. PMID:717927 A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. 2023-12-30T23:26:21Z Hygroma renale Peripelvic lymphangiectasia Renal lymphangiomatosis human_phenotype HP:6000073 Renal lymphangiectasia HP:6000073 A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space. PMID:17684071 A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx. 2023-12-30T23:26:21Z human_phenotype HP:6000074 Pharyngeal myxoma HP:6000074 A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx. PMID:23984217 Fibrin thrombi inside subcutaneous arterioles. 2023-12-30T23:26:21Z human_phenotype HP:6000075 Subcutaneous arteriolar thrombosis HP:6000075 Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. 2023-12-30T23:26:21Z human_phenotype HP:6000076 Renal vasculitis HP:6000076 Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney. PMID:31927782 Accumulation of abnormally high amounts of iron in beta cells of the pancreas. 2023-12-30T23:26:21Z human_phenotype HP:6000077 Pancreatic islet beta cell iron deposition HP:6000077 Accumulation of abnormally high amounts of iron in beta cells of the pancreas. PMID:36882414 A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose. 2023-12-30T23:26:21Z human_phenotype HP:6000078 Nasal hamartoma HP:6000078 A type of metachromasia localized to a peripheral nerve. Metachromasia may be defined as the staining of tissue or tissue components such that the color of the tissue-bound dye complex differs significantly from the color of the original dye complex to give a marked contrast in color. For instance in metachromatic leukodystrophy, bloated Schwann cells, containing granularmetachromatic storage material May display a characteristic yellow green dichroism under crossed polarised light. 2023-12-30T23:26:21Z HP:6001030 Peripheral nerve metachromasia human_phenotype HP:6000079 In metachromatic leukodystrophy, galactosyl sulfatide (cerebroside sulfate) accumulates in the white matter of the CNS and in the peripheral nerves. Galactosyl sulfatide, and to a lesser extent lactosyl sulfatide, also accumulate within the kidney, gallbladder, and certain other visceral organs and are excreted in excessive amounts in the urine. In histologic preparations, they form spherical granular masses that stain metachromatically (i.e., with a color different from that of the dye solution). See Figure 2 of PMID:16291896. Metachromatic intraneuronal lipid deposits HP:6000079 A type of metachromasia localized to a peripheral nerve. Metachromasia may be defined as the staining of tissue or tissue components such that the color of the tissue-bound dye complex differs significantly from the color of the original dye complex to give a marked contrast in color. For instance in metachromatic leukodystrophy, bloated Schwann cells, containing granularmetachromatic storage material May display a characteristic yellow green dichroism under crossed polarised light. PMID:16291896 PMID:29152458 Activity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts. 2023-12-30T23:26:21Z human_phenotype HP:6000080 Reduced phosphoserine phosphatase activity in cultured fibroblasts HP:6000080 Activity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts. PMID:9222972 Activity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts. 2023-12-30T23:26:21Z Alpha-aminoadipic semialdehyde synthase low in fibroblasts human_phenotype HP:6000081 Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts HP:6000081 Activity of beta-ureidopropionase in the liver below the lower limit of normal. 2023-12-30T23:26:21Z Liver biopsy: beta-ureidopropionase activity low human_phenotype HP:6000082 Reduced hepatic beta-ureidopropionase activity HP:6000082 Activity of beta-ureidopropionase in the liver below the lower limit of normal. PMID:15385443 Activity of dihydropyrimidinase in the liver below the lower limit of normal. 2023-12-30T23:26:21Z human_phenotype HP:6000083 Reduced hepatic dihydropyrimidinase activity HP:6000083 Activity of dihydropyrimidinase in the liver below the lower limit of normal. PMID:9323563 Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus. 2023-12-31T08:27:55Z human_phenotype HP:6000084 Sunken fontanelle HP:6000084 Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus. PMID:12825844 Formation of an angle (tilt) along the shaft of the penis. 2023-12-31T08:27:55Z Bent penis human_phenotype HP:6000085 This finding can be observed with penis fracture and Peyronie Disease. The latter is caused by a plaque (scar tissue) that pulls on the surrounding tissues and causes the penis to curve or bend, usually during an erection. Angulation of penis HP:6000085 Formation of an angle (tilt) along the shaft of the penis. PMID:31869082 Bent penis A past medical history of a procedure or catheterization involving the urethra. 2023-12-31T08:27:55Z human_phenotype HP:6000086 History of urethral procedure or catheterization HP:6000086 Abormal enlargement of the penis owing to accumulation of fluid. 2023-12-31T08:27:55Z Penile edema Penile oedema human_phenotype HP:6000087 Penile swelling HP:6000087 Abormal enlargement of the penis owing to accumulation of fluid. PMID:11142469 Penile oedema Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal. 2023-12-31T08:27:55Z human_phenotype HP:6000088 Reduced muscle alpha-1,4-glucosidase activity HP:6000088 A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism. 2023-12-31T08:27:55Z Osteitis fibrosa cystica human_phenotype HP:6000089 Brown tumor HP:6000089 A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism. PMID:26354493 Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures. 2023-12-31T08:27:55Z human_phenotype HP:6000090 Flame figures may be observed in Wells syndrome. Dermal flame figures HP:6000090 Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures. PMID:30335327 Applied to a sign or symptom that is present during pregnancy and becomes worse following birth. 2023-12-31T08:27:55Z Symptoms worsen in post-partum state human_phenotype HP:6000091 Postpartum exacerbation HP:6000091 History of having taken retinoids. 2023-12-31T08:27:55Z Exposure to retinoids human_phenotype HP:6000092 Retinoid exposure HP:6000092 History of having been treated with propylthiouracil. 2023-12-31T08:27:55Z Exposure to propylthiouracil human_phenotype HP:6000093 Propylthiouracil exposure HP:6000093 History of spending a substantial amount of time outdoors with occupation or hobbies related to the outdoors, including hunting, gardening, farming, agriculture, horticulture, miners, working in wet fields. 2023-12-31T08:27:55Z human_phenotype HP:6000094 History of outdoor activities HP:6000094 A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration. 2023-12-31T08:27:55Z Discharging sinus Draining tract in skin Tract under skin draining associated abscess human_phenotype HP:6000095 A soft tissue ulcer can show a sinus tract leading to a deeper soft tissue abscess and may occasionally extend to a joint. Chronic osteomyelitis can be associated with a sinus tract and cloaca (opening or rupture of bony cortex overlying an area of osteomyelitis) draining granulation tissue, pus, or necrotic debris from the bone to the skin. Draining sinus tract in skin HP:6000095 A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration. PMID:34145466 Past medical history of surgical replacement of the cornea with corneal tissue from a donor. 2023-12-31T10:32:04Z History of corneal transplantation human_phenotype HP:6000096 Corneal transplant history HP:6000096 Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma. 2023-12-31T10:32:04Z human_phenotype HP:6000097 Spontaneous lens capsule rupture has been observed with Marshall syndrome. Spontaneous lens capsule rupture HP:6000097 Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma. PMID:35198824 A past medical history of wearing contact lenses. 2023-12-31T10:32:04Z human_phenotype HP:6000098 Contact lens wearer HP:6000098 A past medical history of wearing contact lenses. PMID:26292204 Increase in thickness of the mucosa of the airways above the upper limit of normal. 2023-12-31T10:32:04Z human_phenotype HP:6000099 This feature can be observed in mucolipidosis type II. Progressive airway thickening can lead to respiratory insufficiency. Airway mucosal thickening HP:6000099 Increase in thickness of the mucosa of the airways above the upper limit of normal. PMID:32957425 Increased (more negative) voltage across the nasal epithelium. 2023-12-31T10:32:04Z human_phenotype HP:6000100 The resulting (or basal) potential difference (PD) is negative or polarized (viewed from the epithelial surface) and in normal subjects, it is usually between -15 and -25 mV. The measurement continues by the sequential perfusion of compounds that block inwardly directed sodium transport through inhibition of ENaC (amiloride), followed by augmentation of chloride transport through CFTR. During perfusion of amiloride, the potential difference depolarizes as ENaC transport is reduced, and the PD typically approaches a low polarizing value (typically between 0 and -10 mV). Hyperpolarized transepithelial nasal potential difference HP:6000100 Increased (more negative) voltage across the nasal epithelium. PMID:21594779 An adhesion between the conjunctiva of the eyelid and the cornea. 2024-01-03T08:12:10Z human_phenotype HP:6000101 Corneopalpebral synechiae HP:6000101 An adhesion between the conjunctiva of the eyelid and the cornea. PMID:20301721 Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts. 2024-01-03T21:46:25Z human_phenotype HP:6000102 Breast intraductal papilloma HP:6000102 Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts. PMID:30137824 Precipitous labor is extremely rapid labor and delivery, usually defined as expulsion of the fetus within less than 3 hours of commencement of regular contractions. 2024-01-03T21:46:25Z Precipitous delivery human_phenotype HP:6000103 Precipitous labor HP:6000103 Precipitous labor is extremely rapid labor and delivery, usually defined as expulsion of the fetus within less than 3 hours of commencement of regular contractions. PMID:25584099 PMID:30940371 Maternal history of a pregnancy with two fetuses in the uterus. 2024-01-03T21:46:25Z human_phenotype HP:6000104 Twin pregnancy HP:6000104 Maternal history of a pregnancy with two fetuses in the uterus. PMID:33622004 A swelling or enlargement localized to the vagina. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-01-03T21:46:25Z human_phenotype HP:6000105 Vaginal mass HP:6000105 Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine. 2024-01-03T21:46:25Z Costovertebral angle pain human_phenotype HP:6000106 Costovertebral angle tenderness can be observed with conditions including pyelonephritis and ureteral stones. Costovertebral angle tenderness HP:6000106 Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine. PMID:36605912 Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection. 2024-01-03T21:46:25Z Chandelier sign human_phenotype HP:6000107 Cervical motion tenderness HP:6000107 Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection. PMID:31424870 Fluid that originates from the urethra that is not urine, pre-ejaculate or semen. 2024-01-03T21:46:25Z Abnormal penile discharge human_phenotype HP:6000108 Abnormal urethral discharge HP:6000108 The presence of an extra digital crease in and individual with normal joint anatomy. 2024-01-03T21:46:25Z human_phenotype HP:6000109 Supernumerary finger flexion crease HP:6000109 The presence of an extra digital crease in and individual with normal joint anatomy. PMID:12244551 Refers to a phenotypic abnormality that mainly affect large joints. 2024-01-03T21:46:25Z human_phenotype HP:6000110 Large joint predominance HP:6000110 Refers to a phenotypic abnormality that affects a single joint. 2024-01-03T21:46:25Z human_phenotype HP:6000111 Monoarticular HP:6000111 An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick. 2024-01-03T21:46:25Z Hockey-stick crease human_phenotype HP:6000112 See figure 5 of PMID:29094891. Hockey-stick palmar crease HP:6000112 An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick. PMID:29094891 The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z human_phenotype HP:6000113 Elevated urinary succinyladenosine level HP:6000113 The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:23937257 The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z 5-hydroxymethyluracil high in urine human_phenotype HP:6000114 Elevated urinary 5-hydroxymethyluracil level HP:6000114 The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T07:17:20Z human_phenotype HP:6000115 Decreased urine creatinine level HP:6000115 The amount of deoxyuridine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z Deoxyuridine high in urine human_phenotype HP:6000116 Elevated urinary deoxyuridine level HP:6000116 HP:0034565 2024-01-04T07:17:20Z human_phenotype HP:6000117 obsolete Elevated urinary AICA-riboside level true HP:6000117 The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z Dihydrouracil high in urine human_phenotype HP:6000118 Elevated urinary dihydrouracil level HP:6000118 The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:9323563 The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z Dihydrothymine in urine high human_phenotype HP:6000119 Elevated urinary dihydrothymine level HP:6000119 The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety. 2024-01-04T07:17:20Z human_phenotype HP:6000120 Elevated urinary sulfatide level HP:6000120 The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z human_phenotype HP:6000121 Elevated urinary xanthurenic acid level HP:6000121 Presence of N-acetylglucosamine-rich oligosaccharides in the urine. 2024-01-04T07:17:20Z human_phenotype HP:6000122 Increased urinary N-acetylglucosamine-rich oligosaccharide level HP:6000122 The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T07:17:20Z 2'-deoxyadenosine (dAdo) elevated in urine Elevated urinary dAdo level human_phenotype HP:6000123 Elevated urinary 2'-deoxyadenosine level HP:6000123 Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine. 2024-01-04T08:38:12Z human_phenotype HP:6000124 Positive 2,4-dinitrophenylhydrazine urine test HP:6000124 Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine. PMID:32491705 The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T08:38:12Z Dolichol levels high in urine human_phenotype HP:6000125 Elevated urinary dolichol level HP:6000125 The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T08:38:12Z human_phenotype HP:6000126 Decreased urinary bile acid level HP:6000126 The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal. 2024-01-04T08:38:12Z Increased urine Cr/Crn ratio human_phenotype HP:6000127 This finding is suggestive of a disorder of creatine metabolism. Elevated urinary creatine/creatinine ratio HP:6000127 The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal. PMID:27096572 The amount of thymidine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-01-04T08:38:12Z human_phenotype HP:6000128 Elevated urinary thymidine level HP:6000128 The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-01-04T08:38:12Z human_phenotype HP:6000129 Elevated urinary glutarylglycine level HP:6000129 Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel. 2024-01-04T08:38:12Z human_phenotype HP:6000130 Elevated urinary indican level HP:6000130 Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel. PMID:6417635 Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system. 2024-01-07T09:41:28Z Lacrimal calculus Tear stone human_phenotype HP:6000131 Dacryoliths may cause intermittent epiphora without inflammation, or recurrent dacryocystitis may develop. Dacrolith HP:6000131 Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system. PMID:17536093 Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal. 2024-01-07T09:41:28Z Gamma-glutamyl cysteine synthetase low in erythrocytes human_phenotype HP:6000132 Reduced erythrocyte gamma-glutamyl cysteine synthetase activity HP:6000132 Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal. PMID:12663448 The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in erythrocytes (red blood cells) is below the lower limit of normal. 2024-01-07T09:41:28Z NADH-cytochrome b5 reductase low human_phenotype HP:6000133 Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity HP:6000133 The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in erythrocytes (red blood cells) is below the lower limit of normal. PMID:8874222 Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts. 2024-01-07T09:41:28Z human_phenotype HP:6000134 Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts HP:6000134 Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts. PMID:10655068 Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit. 2024-01-07T09:41:28Z Hypospermia human_phenotype HP:6000135 Low semen volume HP:6000135 Applies to an abnormality that is situated in (or predominant in) the elbow. 2024-01-07T09:41:28Z human_phenotype HP:6000136 Elbow localization HP:6000136 Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is referred to as the lunula. 2024-01-07T09:41:28Z Macrolunula Nails: lunulae enlarged human_phenotype HP:6000137 Enlarged lunula HP:6000137 Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is referred to as the lunula. PMID:30245952 Applies to an abnormality that is situated in (or predominant in) the heel. 2024-01-07T09:41:28Z Heel predominance human_phenotype HP:6000138 Heel localization HP:6000138 Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails. 2024-01-07T09:41:28Z human_phenotype HP:6000139 Splinter hemorrhages represent rupture of longitudinally oriented nail plate capillaries leading to extravasation and the historical hallmark of linear discoloration. See figure 1 of PMID:36050132. Splinter hemorrhages HP:6000139 Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails. PMID:36050132 Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression. 2024-01-07T09:41:28Z Varus thrust human_phenotype HP:6000140 LT visualized during walking is associated with a greater medial knee load and an increased risk of medial knee osteoarthritis (OA) progression. Lateral thrust HP:6000140 Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression. PMID:23948980 PMID:37266363 A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head. 2024-01-07T13:13:57Z human_phenotype HP:6000141 Cerebral contusion is the classic example of focal traumatic brain injury (TBI). In the pre-CT era, cerebral contusion could be diagnosed only in the operating room during craniotomy or at the autopsy table. Initially, the CT may show isodense or hypodense areas, sometimes mixed-density lesions commonly surrounded by perilesional hypodense areas, but later more surrounding edema with progression over time. Multiple focal contusions may have a salt and pepper appearance. The bone window is used for the evaluation of skull fractures. Brain magnetic resonance imaging (MRI) is not indicated in the acute management of TBI. If acutely done, there are isointense to hyperintense areas on T1-weighted images and hyperintense on T2-weighted images. Fluid-attenuated inversion recovery images demonstrate petechial hemorrhages that are isointense to the brain. The MRI can show ischemic areas and changes from diffuse axonal injury. It can be used later for cognitive problems. Cerebral contusion HP:6000141 A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head. PMID:32965818 A mass of accumulated hardened fecal matter. 2024-01-07T13:13:57Z Coprolith Fecaloma Stercolith human_phenotype HP:6000142 Fecolith HP:6000142 A mass of accumulated hardened fecal matter. PMID:37706403 PMID:8906682 Appendicitis is an inflammation of the vermiform appendix, which is a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen. 2024-01-07T13:13:57Z human_phenotype HP:6000143 Appendicitis HP:6000143 Appendicitis is an inflammation of the vermiform appendix, which is a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen. PMID:29630245 A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole. 2024-01-07T13:13:57Z human_phenotype HP:6000144 A left ventricular aneurysm is one of the worst complications after acute myocardial infarction. The natural course leading to the formation of a ventricular aneurysm involves a full-thickness infarct that has been replaced by fibrous tissue. This inert portion cannot take part in the contraction and herniates outward during systole. Most of the LV aneurysms are asymptomatic and are found in follow-up echocardiography. However, large symptomatic LV aneurysms can cause heart failure, ventricular tachyarrhythmias, and sudden cardiac death. Left ventricular aneurysm HP:6000144 A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole. PMID:32310415 An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot. 2024-01-07T13:13:57Z Boot shaped cardiac silhouette human_phenotype HP:6000145 Boot-shaped cardiac silhouette HP:6000145 Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion. 2024-01-07T13:13:57Z human_phenotype HP:6000146 The most common cause of hydrosalpinx is pelvic inflammatory disease. Hydrosalpinx HP:6000146 Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion. PMID:30824209 An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS). 2024-01-07T13:13:57Z human_phenotype HP:6000147 Elevated methylhex-dienedioic level by MRS HP:6000147 An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS). PMID:32027475 Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents. 2024-01-07T13:13:57Z Peri-hepatic enhancement human_phenotype HP:6000148 See figure 2 of PMID:35528764. Perihepatic enhancement HP:6000148 Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents. PMID:35528764 The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle. 2024-01-07T13:13:57Z Caffeine in vitro contracture test positive Halothane in vitro contracture test positive human_phenotype HP:6000149 Reduced in vitro contracture test threshold HP:6000149 The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle. PMID:1833602 Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers. 2024-01-07T13:13:57Z human_phenotype HP:6000150 Because F-waves traverse the entire length of a peripheral nerve between the spinal cord and muscle, F-waves provide a means of examining transmission between stimulation sites in the arm and the leg and the related motoneurons in the cervical and lumbosacral cord. The F-wave is so named because it was originally studied in the small muscles of the foot. It is one of several responses that may follow the direct motor (M) response evoked by electrical stimulation of mixed or motor nerves. Reduced F-wave amplitude HP:6000150 Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers. PMID:17334607 Abnormal increase in size of peroxisomes. 2024-01-07T13:13:57Z Peroxisomal enlargement human_phenotype HP:6000151 See figure 2 of PMID:2894756. Enlarged peroxisomes HP:6000151 Abnormal increase in size of peroxisomes. PMID:2894756 A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands. 2024-01-08T08:51:36Z human_phenotype HP:6000152 Controlled by the pituitary gland, the adrenal cortex drives critical processes, such as the production of cortisol, mineralocorticoid and sex hormones. Any disruption in the multiple enzymes and hormones involved in these pathways may cause serious or life-threatening symptoms, often associated with anatomical changes in the adrenal glands. Adrenocortical hyperplasia HP:6000152 A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands. PMID:28707538 Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination. 2024-01-08T08:51:36Z human_phenotype HP:6000153 Lymphocytic infiltration of the parotid gland HP:6000153 A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types. 2024-01-08T08:51:36Z human_phenotype HP:6000154 Bone marrow granuloma HP:6000154 A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types. PMID:32119473 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons. 2024-01-08T08:51:36Z human_phenotype HP:6000155 Neuronal intranuclear inclusion bodies HP:6000155 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons. PMID:27797808 Wasting (shrinking) of the pancreas. 2024-01-08T08:51:36Z human_phenotype HP:6000156 Pancreatic atrophy is commonly seen in elderly patients and may also be a sequela of conditions including chronic pancreatitis, cystic fibrosis, and Shwachman-Bodian-Diamond syndrome. Pancreatic atrophy HP:6000156 Wasting (shrinking) of the pancreas. PMID:22787562 Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy. 2024-01-08T08:51:36Z Pancreatic biopsy: acinar structures reduced human_phenotype HP:6000157 Decreased pancreatic acinar cell density HP:6000157 Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy. PMID:32388592 An abnormal result of the filipin test. This test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs). 2024-01-08T08:51:36Z Positive filipin test human_phenotype HP:6000158 The filipin test is useful for the evaluation of impaired cholesterol esterification in cultured cells (fibroblasts or others) in Niemann-Pick disease type C. Unesterified cholesterol accumulation in cultured fibroblasts HP:6000158 An abnormal result of the filipin test. This test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs). PMID:25665455 HP:0034029 2024-01-08T08:51:36Z human_phenotype HP:6000159 obsolete Hepatic lipid-laden macrophage infiltration true HP:6000159 Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen. 2024-01-08T08:51:36Z Spleen biopsy: lipid-laden macrophages Splenic foamy cells human_phenotype HP:6000160 Splenic lipid-laden macrophage infiltration HP:6000160 Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen. PMID:32382506 Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal. 2024-01-08T08:51:36Z human_phenotype HP:6000161 Reduced hepatic N-acetylglutamate synthase activity HP:6000161 Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal. PMID:12594532 Ingestion of large amounts of licorice. 2024-01-16T08:09:24Z human_phenotype HP:6000162 Licorice is a popular sweetener found in many soft drinks, food products, snacks and herbal medicines. Licorice toxicity is characterized by the symptom triad of hypertension, hypokalemia, and metabolic alkalosis, so-called pseudohyperaldosteronism. The active ingredient in licorice is glycyrrhizin, which is converted to 3beta-monoglucuronyl-18beta-glycyrrhetinic acid (3MGA) and 18beta-glycyrrhetinic acid (GA) in the gut. These active metabolites inhibit the 11beta-hydroxysteroid dehydrogenase type II enzyme and prevent the conversion of cortisol to cortisone. Unlike cortisone, cortisol binds to the mineralocorticoid receptor. This cortisol excess leads to increased potassium and proton excretion as well as to sodium and water retention, with increased systemic resistance. The triad of symptoms typical of classic hyperaldosteronism (Conn syndrome) results from the aldosterone-like effect: hypokalemia, hypertension, and metabolic alkalosis. Excessive licorice consumption HP:6000162 Ingestion of large amounts of licorice. PMID:23185686 PMID:35321787 Applies to an abnormality that is situated in (or predominant in) the shoulder. 2024-01-16T08:09:24Z human_phenotype HP:6000163 Shoulder localization HP:6000163 Intrauterine devices (IUDs) are used for contraception. Rarely pregnancy occurs despite the presence of an IUD. Such pregnancies are associated with an increased risk of spontaneous abortion and preterm delivery due to infection, and a higher risk of maternal septic complications. 2024-01-16T08:09:24Z human_phenotype HP:6000164 Pregnancy conceived despite intrauterine device HP:6000164 Intrauterine devices (IUDs) are used for contraception. Rarely pregnancy occurs despite the presence of an IUD. Such pregnancies are associated with an increased risk of spontaneous abortion and preterm delivery due to infection, and a higher risk of maternal septic complications. PMID:19650756 The mother of a fetus or index patient has a history of folate deficiency during the corresponding pregnancy. 2024-01-16T08:09:24Z human_phenotype HP:6000165 Maternal folate deficiency HP:6000165 The mother of a fetus or index patient has a history of folate deficiency during the corresponding pregnancy. PMID:31093652 The mother of a fetus or index patient has a history of abnormally low zinc levels during the corresponding pregnancy. 2024-01-16T08:09:24Z human_phenotype HP:6000166 Maternal zinc deficiency may increase the risk low birth weight (LBW) and small for gestational age (SGA) infants. Maternal zinc deficiency HP:6000166 The mother of a fetus or index patient has a history of abnormally low zinc levels during the corresponding pregnancy. PMID:26053136 Intrauterine devices (IUD) are commonly used for contraception. IUD complications are rare, but include perforation, pelvic infection, expulsion, missing strings, and difficult IUD removal. 2024-01-16T08:09:24Z human_phenotype HP:6000167 Use of intrauterine device HP:6000167 Intrauterine devices (IUD) are commonly used for contraception. IUD complications are rare, but include perforation, pelvic infection, expulsion, missing strings, and difficult IUD removal. PMID:32491335 A past medical history of a recent central venous catheter (CVC). A CVC is an indwelling device inserted into a large, central vein (most commonly the internal jugular, subclavian, or femoral) and advanced until the terminal lumen resides within the inferior vena cava, superior vena cava, or right atrium. CVCs can be a necessary producre for critically ill patients with indications such as total parenteral nutrition administration, dialysis, plasmapheresis, medication administration, and hemodynamic monitoring, and to facilitate further complex interventions such as transvenous pacemaker placement. Complications include arrhythmia, central vein stenosis, and sepsis. 2024-01-16T08:09:24Z human_phenotype HP:6000168 History of recent central venous catheter HP:6000168 A past medical history of a recent central venous catheter (CVC). A CVC is an indwelling device inserted into a large, central vein (most commonly the internal jugular, subclavian, or femoral) and advanced until the terminal lumen resides within the inferior vena cava, superior vena cava, or right atrium. CVCs can be a necessary producre for critically ill patients with indications such as total parenteral nutrition administration, dialysis, plasmapheresis, medication administration, and hemodynamic monitoring, and to facilitate further complex interventions such as transvenous pacemaker placement. Complications include arrhythmia, central vein stenosis, and sepsis. PMID:32491730 A past medical history of a recent depence on total parenteral nutrition (TPN), which refers to intravenously administered nutrition being the only source of nutrition the patient is receiving. 2024-01-16T08:09:24Z human_phenotype HP:6000169 History of total parenteral nutrition dependence HP:6000169 A past medical history of a recent depence on total parenteral nutrition (TPN), which refers to intravenously administered nutrition being the only source of nutrition the patient is receiving. PMID:32644462 This refers to testicular pain that is lessened or made more bearable by elevation of the testicle. 2024-01-16T08:09:24Z Prehn's sign Testicle elevation relieves pain human_phenotype HP:6000170 Prehn sign, the relief of pain with the elevation of the testis, may be elicited in patients with epididymitis, although this is not a reliable finding. Pain alleviated by testicle elevation HP:6000170 This refers to testicular pain that is lessened or made more bearable by elevation of the testicle. PMID:19378875 An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-01-16T08:09:24Z human_phenotype HP:6000171 Abdominal wall mass HP:6000171 An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. PMID:32330085 The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy. 2024-01-21T07:14:10Z human_phenotype HP:6000172 See Figure 1 of PMID:24134083. Tympanic membrane bulging HP:6000172 The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy. PMID:24134083 Applies to pain of the ear that is worsened, aggravated, or exacerbated by touching or moving the tragus or pinna. 2024-01-21T07:14:10Z human_phenotype HP:6000173 Ear pain exacerbated by manipulating tragus or pinna HP:6000173 An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-01-21T07:14:10Z human_phenotype HP:6000174 Lateral neck mass HP:6000174 Applies to an abnormality that is situated in the occiput (back part of the head). 2024-01-21T07:14:10Z human_phenotype HP:6000175 Occipital location HP:6000175 Abormal enlargement of the front part of the neck owing to accumulation of fluid. 2024-01-21T07:14:10Z human_phenotype HP:6000176 Anterior neck swelling HP:6000176 Abnormal enlargement of the uvula related to an abnormal accumulation of fluid. 2024-01-21T07:14:10Z human_phenotype HP:6000177 Uvular swelling HP:6000177 HP:0034781 2024-01-21T07:14:10Z human_phenotype HP:6000178 obsolete Purulent drainage from Stensen duct true HP:6000178 History of having received gastric bypass surgery. This is a procedure that reduces the functional volume of the stomach and is used to treat morbid obesity. 2024-01-21T07:14:10Z human_phenotype HP:6000179 History of gastric bypass surgery HP:6000179 History of having received gastric bypass surgery. This is a procedure that reduces the functional volume of the stomach and is used to treat morbid obesity. PMID:31985950 Applies to a sign or symptom that is provoked or brought about by exposure to volatile organic compounds (VOCs), which comprise various organic chemicals which are released as gases from different liquids or solids. 2024-01-22T05:48:12Z human_phenotype HP:6000180 VOCs are present in different household, industrial or commercial and products, but their accumulation in air and water has primarily gained attention. Among VOCs, trichloroethylene and vinyl chloride are the most toxic and carcinogenic compounds. Triggered by volatile organic compounds HP:6000180 Applies to a sign or symptom that is provoked or brought about by exposure to volatile organic compounds (VOCs), which comprise various organic chemicals which are released as gases from different liquids or solids. PMID:34948756 A medical history of having undergone radiation therapy, which is a treatment that uses ionizing radiation for purposes such as the control the growth of malignant cells in cancer treatment. 2024-01-22T05:48:12Z human_phenotype HP:6000181 History of radiation therapy HP:6000181 Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal. 2024-01-22T05:48:12Z human_phenotype HP:6000182 Absent otoacoustic emissions HP:6000182 Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal. PMID:35593808 The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane. 2024-01-22T05:48:12Z human_phenotype HP:6000183 See Figure 2 of PMID:23673509. Thickened tympanic membrane HP:6000183 The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane. PMID:23673509 PMID:28846242 Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris. 2024-01-22T05:48:12Z Fatty filum terminale LFT Lipoma of filum terminale Lipoma of the filum terminale human_phenotype HP:6000184 Filum terminale lipomas (FTL) are occasionally associated with tethered cord syndrome, and some authors have advocated for prophylactic sectioning of the filum terminale when an FTL is identified. With the increasing use of MRI, FTLs have been identified more frequently in asymptomatic individuals. Filum terminale lipoma HP:6000184 Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris. PMID:24628511 LFT The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal. 2024-01-22T05:48:12Z human_phenotype HP:6000185 Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio HP:6000185 The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal. PMID:21325058 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen. 2024-01-22T20:45:28Z Anti-SLA/LP human_phenotype HP:6000186 Antibodies against SLA/LP are now considered as being highly specificmarkers for auto-immune hepatitis type 1. Anti-soluble liver antigen/liver pancreas antibody positivity HP:6000186 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen. PMID:19302185 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A. 2024-01-22T20:45:28Z Anti-THSD7A antibody Anti-THSD7A antibody present in blood human_phenotype HP:6000187 Anti-thrombospondin type I domain-containing 7A antibody positivity HP:6000187 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A. PMID:35564696 The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens. 2024-01-22T20:45:28Z human_phenotype HP:6000188 Antisperm antibody positivity HP:6000188 The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens. PMID:31527552 The concentration of ficolin-3 in the blood circulation is below the lower limit of normal. 2024-01-25T09:04:06Z Decreased circulating ficolin-3 concentration Decreased ficolin-3 concentration Decreased ficolin-3 level Decreased ficolin-3 level in blood Reduced ficolin-3 concentration Reduced ficolin-3 level Reduced ficolin-3 level in blood human_phenotype HP:6000189 Decreased circulating ficolin-3 concentration HP:6000189 A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen. 2024-01-25T09:04:06Z human_phenotype HP:6000190 Abnormal seminal vesicle morphology HP:6000190 A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen. PMID:29763029 A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct. 2024-01-25T09:04:06Z human_phenotype HP:6000191 Congenital seminal vesical cysts are caused by altered development of the mesonephric (Wolffian) duct. They are often associated with abnormal development of other ipsilateral mesonephric derivatives, such as vas deferens, kidney, and ureter. Seminal vesicle cyst HP:6000191 A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct. PMID:31024871 PMID:9829485 History of exposure to respirable crystalline silica (SiO2). 2024-01-25T09:04:06Z human_phenotype HP:6000192 Silicosis is a well known consequence of silica dust exposure, and exposure has also been associated with the risk of lung cancer, pulmonary tuberculosis, and other airway diseases. Silica dust exposure HP:6000192 History of exposure to respirable crystalline silica (SiO2). PMID:22529751 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against osteoprotegerin. 2024-01-25T09:04:06Z Anti-OPG antibody positivity human_phenotype HP:6000193 Anti-osteoprotegerin antibody positivity HP:6000193 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against osteoprotegerin. PMID:19812402 PMID:26092508 PMID:28534161 Anti-OPG antibody positivity A past medical history of having had a surgical procedure to remove the adrenal glands. 2024-01-25T09:04:06Z human_phenotype HP:6000194 History of adrenalectomy HP:6000194 A past medical history of having had a surgical procedure to remove the adrenal glands. PMID:28421470 Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal. 2024-01-26T07:31:10Z human_phenotype HP:6000195 Citrate synthase (CS) activity is a validated biomarker for mitochondrial density in skeletal muscle. CS activity is also used as a biochemical marker of the skeletal muscle oxidative adaptation to a training intervention, and a relationship between changes in whole body aerobic capacity and changes in CS activity is often assumed. Elevated mitochondrial citrate synthase activity HP:6000195 Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal. PMID:25057335 Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back. 2024-01-26T07:31:10Z Muscle biopsy: lactate dehydrogenase low human_phenotype HP:6000196 Reduced muscle lactate dehydrogenase activity HP:6000196 Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11). 2024-01-26T07:31:10Z human_phenotype HP:6000197 Reduced muscle phosphoglycerate mutase activity HP:6000197 Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal. 2024-01-26T07:31:10Z human_phenotype HP:6000198 The enzyme PhK comprises four copies each of four subunits (alpha, beta, gamma, and delta). Reduced muscle phosphorylase kinase activity HP:6000198 Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal. PMID:21634085 Activity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts. 2024-01-26T07:31:10Z human_phenotype HP:6000199 Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts HP:6000199 Activity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts. PMID:24142275 Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal. 2024-01-26T07:31:10Z Reduced liver G6PC activity human_phenotype HP:6000200 Reduced hepatic glucose-6-phosphatase activity HP:6000200 Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal. PMID:7573034 Activity of glucose-6-phosphate translocase in liver below the lower limit of normal. 2024-01-26T07:31:10Z human_phenotype HP:6000201 Reduced hepatic glucose-6-phosphate translocase activity HP:6000201 Activity of glucose-6-phosphate translocase in liver below the lower limit of normal. PMID:9428641 The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes). 2024-01-27T07:08:51Z human_phenotype HP:6000202 Erythrocytes may be seen in CSF following a traumatic lumbar tap, but in such cases RBC counts typically decrease in sequential samples. Penetration of blood into the subarachnoid space and/or CSF may be due to trauma, a ruptured aneurysm, intracerebral hemorrhage, or in connection with a tumor. Cerebrospinal fluid erythrocytes HP:6000202 The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes). PMID:32319250 The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol. 2024-01-27T07:08:51Z Elevated CSF cholestanol human_phenotype HP:6000203 Elevated CSF cholestanol concentration HP:6000203 The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol. PMID:33509302 The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z Apolipoprotein B high in CSF human_phenotype HP:6000204 Elevated CSF apolipoprotein B concentration HP:6000204 The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:34590423 The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z Myelin basic protein high in CSF human_phenotype HP:6000205 Radioimmunoassay for myelin basic protein in cerebrospinal fluid is commonly used as a biochemical marker of demyelination in multiple sclerosis patients. Elevated CSF myelin basic protein concentration HP:6000205 The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:12465458 The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-01-27T07:08:51Z Pyridoxal-5'-phosphate low in CSF human_phenotype HP:6000206 Reduced CSF pyridoxal-5'-phosphate concentration HP:6000206 The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal. PMID:21305354 The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z Thymine high in CSF human_phenotype HP:6000207 Elevated CSF thymine concentration HP:6000207 The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z 5-hydroxymethyluracil high in CSF human_phenotype HP:6000208 Elevated CSF 5-hydroxymethyluracil concentration HP:6000208 The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:35249459 The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z N-carbamyl-beta-aminoisobutyric acid high in CSF human_phenotype HP:6000209 Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration HP:6000209 The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:15385443 The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal. 2024-01-27T07:08:51Z N-carbamyl-beta-alanine high in CSF human_phenotype HP:6000210 Elevated CSF N-carbamyl-beta-alanine concentration HP:6000210 The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-27T07:08:51Z Dihydrouracil high in CSF human_phenotype HP:6000211 Elevated CSF dihydrouracil concentration HP:6000211 The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:6467612 The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal. 2024-01-27T07:08:51Z Dihydrothymine high in CSF human_phenotype HP:6000212 Elevated CSF dihydrothymine concentration HP:6000212 The concentration of angiotensin-converting enzyme in the blood circulation is above the upper limit of normal. 2024-01-27T09:34:39Z Angiotensin-converting enzyme (ACE) high in blood Elevated angiotensin-converting enzyme concentration Elevated angiotensin-converting enzyme level Elevated angiotensin-converting enzyme level in blood Elevated circulating angiotensin-converting enzyme concentration Increased angiotensin-converting enzyme concentration Increased angiotensin-converting enzyme level Increased angiotensin-converting enzyme level in blood human_phenotype HP:6000213 Elevated circulating angiotensin-converting enzyme concentration HP:6000213 The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal. 2024-01-27T09:34:39Z human_phenotype HP:6000214 Decreased 3-hydroxyisobutyrate dehydrogenase activity HP:6000214 The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal. 2024-01-27T09:34:39Z 3-hydroxyisobutyryl-CoA hydrolase deficiency human_phenotype HP:6000215 Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity HP:6000215 The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal. PMID:17160907 Activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts. 2024-01-27T09:34:39Z human_phenotype HP:6000216 Reduced HMG-CoA lyase activity in cultured fibroblasts HP:6000216 Activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts. PMID:28583327 The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal. 2024-01-27T09:34:39Z human_phenotype HP:6000217 Reduced circulating acyl-CoA oxidase activity HP:6000217 The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal. PMID:2894756 Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal. 2024-01-27T09:34:39Z Xanthine oxidase low human_phenotype HP:6000218 Reduced circulating xanthine oxidase activity HP:6000218 Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal. PMID:9153281 The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal. 2024-01-27T09:34:39Z Methylmalonic semialdehyde dehydrogenase deficiency human_phenotype HP:6000219 Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts HP:6000219 The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal. PMID:23835272 An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-01-27T15:20:07Z human_phenotype HP:6000220 Pharyngeal mass HP:6000220 The presence of hidden (occult) blood in the stool. 2024-01-27T15:20:07Z Positive faecal occult blood test Positive fecal occult blood test human_phenotype HP:6000221 This test is commonly used for colorectal cancer screening. Blood in stool may be a sign of hemorrhoids, colorectal cancer, or another condition. Positive stool occult blood test HP:6000221 The presence of hidden (occult) blood in the stool. PMID:30725823 Positive faecal occult blood test An unpleasant sensation characterized by physical discomfort that occurs when passing stool. 2024-01-27T15:20:07Z Pain associated with bowel movements human_phenotype HP:6000222 Painful defecation HP:6000222 Medical history of a recent ingestion of a caustic substance, i.e., a highly acidic or alkaline chemicals that can cause severe burns to the mouth and digestive tract when swallowed. 2024-01-27T15:20:07Z human_phenotype HP:6000223 Recent history of caustic substance ingestion HP:6000223 Failure to pass meconium (the first stool following birth) in the first 48 hours of life. 2024-01-27T15:20:07Z human_phenotype HP:6000224 Failure to pass meconium combined with progressive abdominal distention, refusal to feed and vomiting of bilious intestinal contents are the classic clinical signs of intestinal obstruction in neonates. The first stool is passed within 24 hours of birth in 99 percent of healthy full-term infants and within 48 hours in all healthy full-term infants. Delayed passage of meconium HP:6000224 Failure to pass meconium (the first stool following birth) in the first 48 hours of life. PMID:10569507 The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm. 2024-01-27T15:20:07Z human_phenotype HP:6000225 Single second heart sound HP:6000225 The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm. PMID:21250183 The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal. 2024-01-27T15:20:07Z human_phenotype HP:6000226 Elevated aortic transvalvular pressure gradient HP:6000226 The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal. PMID:32451697 A past surgical history of the implanation of an artificial heart valve. 2024-01-27T15:20:07Z human_phenotype HP:6000227 Prosthetic heart valve HP:6000227 A past surgical history of the implanation of an artificial heart valve. PMID:30725672 Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD. 2024-01-27T15:20:07Z human_phenotype HP:6000228 Failure to increase oxygen saturation on hyperoxia test HP:6000228 Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD. PMID:29763177 Placement of the nipples at a higher than normal location. 2024-01-27T15:20:07Z human_phenotype HP:6000229 High-set nipples HP:6000229 The amount of calveolin-3 in muscle tissue is below the lower limit of normal. 2024-01-27T16:47:50Z Decreased muscle caveolin-3 expression human_phenotype HP:6000230 Decreased muscle caveolin-3 level HP:6000230 The amount of calveolin-3 in muscle tissue is below the lower limit of normal. PMID:12666119 Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood. 2024-01-27T16:47:50Z Abnormal tissue enzyme activity human_phenotype HP:6000231 For enzymes measured in the blood circulation, the term Abnormal circulating enzyme concentration or activity should be used. Abnormal tissue enzyme concentration or activity HP:6000231 Cell dealth (necrosis) located in the spleen. 2024-01-27T16:47:50Z human_phenotype HP:6000232 CT of the abdomen can be used to investigate splenic necrosis. Splenic necrosis HP:6000232 Cell dealth (necrosis) located in the spleen. PMID:30949357 A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells). 2024-01-27T16:47:50Z human_phenotype HP:6000233 Carcinoid tumor of the pancreas HP:6000233 A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells). PMID:28454406 The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. 2024-01-29T13:50:42Z Elevated circulating DOPAC concentration human_phenotype HP:6000234 Elevated circulating dihydroxyphenylacetic acid concentration HP:6000234 The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal. PMID:11857564 Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate. 2024-01-29T13:50:42Z human_phenotype HP:6000235 Ketone synthesis in the liver produces acetoacetate and beta-hydroxybutyrate from two acetyl CoA molecules. This occurs during ketoacidosis in physiological (starvation) and disease-associated (diabetic ketoacidosis) states. Inappropriately low concentration of acetoacetate HP:6000235 Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate. 2024-01-29T13:50:42Z human_phenotype HP:6000236 Ketone synthesis in the liver produces acetoacetate and beta-hydroxybutyrate from two acetyl CoA molecules. This occurs during ketoacidosis in physiological (starvation) and disease-associated (diabetic ketoacidosis) states. Inappropriately low concentration of beta-hydroxybutyrate HP:6000236 Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal. 2024-01-29T13:50:42Z human_phenotype HP:6000237 Elevated circulating 3-hydroxybutyryl-carnitine concentration HP:6000237 Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal. PMID:35095998 The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-29T13:50:42Z Elevated CSF AICA-riboside concentration human_phenotype HP:6000238 Elevated CSF 5-amino-4-imidazolecarboxyamide concentration HP:6000238 The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal. 2024-01-29T13:50:42Z human_phenotype HP:6000239 Elevated circulating tumor necrosis factor alpha concentration HP:6000239 The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal. PMID:2791581 The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal. 2024-01-29T13:50:42Z human_phenotype HP:6000240 Reduced circulating pyrimidine 5-prime-nucleotidase activity HP:6000240 The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal. PMID:11369620 The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal. 2024-01-29T13:50:42Z human_phenotype HP:6000241 Diminished prolactin response to thyrotrophin-releasing hormone stimulation HP:6000241 The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal. PMID:6430949 The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal. 2024-01-29T13:50:42Z C1s low in blood human_phenotype HP:6000242 Decreased circulating complement component 1s concentration HP:6000242 The concentration of corticosteroid-binding globulin in the blood circulation is below the lower limit of normal. 2024-01-29T13:50:42Z Decreased circulating corticosteroid-binding globulin concentration Decreased corticosteroid-binding globulin concentration Decreased corticosteroid-binding globulin level Decreased corticosteroid-binding globulin level in blood Reduced circulating cortisol-binding globulin concentration Reduced corticosteroid-binding globulin concentration Reduced corticosteroid-binding globulin level Reduced corticosteroid-binding globulin level in blood human_phenotype HP:6000243 Corticosteroid binding globulin (CBG) is encoded by the gene for serpin family A member 6 (SERPINA6;HGNC:1540). Cortisol transport is considered the main function of CBG. In addition to cortisol, CBG binds progesterone, aldosterone, and 11-deoxycorticosterone. It is mostly produced by the liver, up-regulated by estrogens, and suppressed by steroids. Clinically, high levels are observed in pregnancy. Low levels may be observed in patients with cirrhosis as well as with corticosteroid-binding globulin deficiency caused by variants in CBG (MIM:611489). Decreased circulating corticosteroid-binding globulin concentration HP:6000243 The concentration of thyroglobulin in the blood circulation is below the lower limit of normal. 2024-01-29T13:50:42Z Decreased circulating thyroglobulin concentration Decreased thyroglobulin concentration Decreased thyroglobulin level Decreased thyroglobulin level in blood Reduced thyroglobulin concentration Reduced thyroglobulin level Reduced thyroglobulin level in blood human_phenotype HP:6000244 Decreased circulating thyroglobulin concentration HP:6000244 The concentration of granulocyte-macrophage colony-stimulating factor in the blood circulation is above the upper limit of normal. 2024-01-29T13:50:42Z Elevated circulating GM-CSF concentration Elevated circulating granulocyte-macrophage colony-stimulating factor concentration Elevated granulocyte-macrophage colony-stimulating factor concentration Elevated granulocyte-macrophage colony-stimulating factor level Elevated granulocyte-macrophage colony-stimulating factor level in blood GMCSF high in blood Increased granulocyte-macrophage colony-stimulating factor concentration Increased granulocyte-macrophage colony-stimulating factor level Increased granulocyte-macrophage colony-stimulating factor level in blood human_phenotype HP:6000245 Elevated circulating granulocyte-macrophage colony-stimulating factor concentration HP:6000245 The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-01-29T13:50:42Z human_phenotype HP:6000246 Elevated CSF D-2-hydroxyglutaric acid concentration HP:6000246 The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:20020533 A swelling or enlargement localized to the esophagus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-01-30T09:00:13Z human_phenotype HP:6000247 Esophageal mass HP:6000247 The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the bursa fluid. 2024-01-30T09:00:13Z HP:6001156 Bursa aspiration: crystals present Crystals in bursa fluid human_phenotype HP:6000248 Bursa fluid is found inside bursae -small, fluid-filled sacs located around joints, especially at points of friction (e.g., between bone and tendon or skin). This feature can be ascertained by aspiration of the bursa fluid. Bursa fluid crystals HP:6000248 The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the bursa fluid. PMID:15769916 PMID:21285711 Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening. 2024-01-30T09:00:13Z Giant gastric folds human_phenotype HP:6000249 The most common causes of giant gastric folds are Menetrier disease, acute gastric mucosal lesions, gastric lymphoma, and scirrhous carcinoma. Enlarged gastric folds HP:6000249 Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening. PMID:20966317 The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal. 2024-01-30T09:00:13Z human_phenotype HP:6000250 Gastric intraepithelial lymphocytosis HP:6000250 The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal. PMID:8669535 The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal. 2024-01-30T09:00:13Z human_phenotype HP:6000251 Small intestinal intraepithelial lymphocytosis HP:6000251 The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal. PMID:8669535 Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness. 2024-01-30T09:00:13Z human_phenotype HP:6000252 The ultrasonographic appearance of fetal lung hyperechogenicity is most commonly associated with congenital bronchopulmonary abnormalities, such as cystic adenomatoid malformation or pulmonary lobar sequestration. Fetal lung hyperechogenicity HP:6000252 Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness. PMID:8528800 A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole. 2024-02-04T06:29:33Z human_phenotype HP:6000253 Stenosis or occlusion of the vascular lumen by thrombosis or intimal proliferation is the result of endothelial damage, which is the cause of clinical manifestations. This finding may be observed with a group of diseases including polyarteritis nodosa and anti-neutrophil cytoplasmic antibody-associated vasculitis (ANCA): granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, and microscopic polyangiitis. Necrotizing vasculitis HP:6000253 A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole. PMID:33372616 Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. 2024-02-04T06:29:33Z human_phenotype HP:6000254 Abnormal proximal convoluted tubule morphology HP:6000254 Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis. 2024-02-04T06:29:33Z human_phenotype HP:6000255 Leishmania may be detected in tissues such as bone marrow, spleen, liver, or skin by methods including Wright or Giemsa stain. Demonstration of Leishmania in tissue HP:6000255 Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid. 2024-02-04T06:29:33Z human_phenotype HP:6000256 Pneumocystis cysts in respiratory secretions HP:6000256 Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid. PMID:25367973 An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord. 2024-02-04T06:29:33Z human_phenotype HP:6000257 Spinal cord granuloma HP:6000257 An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord. PMID:12533321 Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid. 2024-02-04T06:29:33Z human_phenotype HP:6000258 Impaired folate absorption HP:6000258 Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid. PMID:11804211 Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph. 2024-02-04T06:29:33Z Positive glucose hydrogen breath test Positive glucose or lactulose hydrogen breath test Positive lactulose hydrogen breath test human_phenotype HP:6000259 Bacteria, especially anaerobic, colonizing the large bowel in health and small bowel in diseased conditions produce hydrogen by fermentation of unabsorbed carbohydrates. Though small amount of hydrogen is produced from limited amounts of unabsorbed carbohydrate reaching the colon, large amounts of hydrogen may be produced if there is malaborption of carbohydrate in the small intestine allowing larger amount to reach the colon or if there is excess of bacteria in the small bowel. The hydrogen produced by the bacteria is absorbed through the wall of the small or large intestine or both. The hydrogen-containing blood travels to the lungs where the hydrogen is released and exhaled in the breath where it can be measured. Positive hydrogen breath test HP:6000259 Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph. PMID:21860825 A history of a plant skin puncture preceding the current presenting condition by hours, days, or weeks. 2024-02-04T06:29:33Z human_phenotype HP:6000260 History of recent plant thorn skin puncture HP:6000260 Nondetectable kappa chain in the blood circulation. 2024-02-04T06:29:33Z human_phenotype HP:6000261 Human immunoglobulin molecules are built up by a pair of identical heavy chains, identifying the immunoglobulin class (namely Gamma, Alpha, Mu, Delta and Epsilon), and by a pair of identical light chains, Kappa or Lambda alternatively, characterizing the immunoglobulin type. In humans, under normal conditions, Kappa light chains represent approximately 2/3 of the light chains of total immunoglobulins, both circulating and lymphocyte surface bound. This terms represents a situation in which all circulating immunoglobulins have the lambda chain and none have the kappy chain. Only a few cases of K deficiency inhumans have been reported, perhaps because Kdeficiency does not have a drastic effect on the health of the individual lambda chains seem able to substitute effectively. Absent circulating kappa chain-bearing immunoglobulin HP:6000261 Nondetectable kappa chain in the blood circulation. PMID:26853951 PMID:3931219 A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma. 2024-02-04T06:29:33Z human_phenotype HP:6000262 Pseudoglioma HP:6000262 A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma. PMID:16252235 Swelling due to fluid acculuation of the papillary dermis. 2024-02-04T06:29:33Z human_phenotype HP:6000263 The dermis has two major layers: the upper papillary dermis and the lower reticular dermis. The papillary dermis: The papillary dermis consists of bundles of collagen fibrils and oxytalan elastic fibers, ans is separated from the lower reticular dermis by a subpapillary plexus. Papillary dermal edema HP:6000263 Swelling due to fluid acculuation of the papillary dermis. PMID:20377671 The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm. 2024-02-04T06:29:33Z human_phenotype HP:6000264 In the first trimester of pregnancy, the fetal heart rate (FHR)increases from 125 beats per minute (bpm) at 6 weeks to about175 bpm at 9 weeks, followed by a gradual decrease to about160 bpm at 14 weeks, noted in fetuses conceived by assisted reproductive procedures. Fetal tachycardia HP:6000264 The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm. PMID:30244488 The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-04T07:47:19Z human_phenotype HP:6000265 Elevated urinary 3-hydroxykynurenine level HP:6000265 The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:17334708 The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal. 2024-02-04T07:47:19Z Alpha-oxoadipic acid high in urine human_phenotype HP:6000266 2-oxoadipic aciduria HP:6000266 The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal. PMID:23141293 The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal. 2024-02-04T07:47:19Z human_phenotype HP:6000267 Methionine S-oxide is a derivative of methionine and is a biomarker of oxidative stress. Elevated circulating methionine sulfoxide concentration HP:6000267 The concentration of pipecolic acid in the blood circulation is above the upper limit of normal. 2024-02-04T07:47:19Z Hyperpipecolatemia Pipecolic acid high in blood human_phenotype HP:6000268 Elevated circulating pipecolic acid concentration HP:6000268 The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-04T07:47:19Z human_phenotype HP:6000269 Elevated urinary pipecolic acid level HP:6000269 Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal. 2024-02-04T07:47:19Z Saccharopine present in CSF human_phenotype HP:6000270 Elevated CSF saccharopine concentration HP:6000270 Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9). 2024-02-04T07:47:19Z human_phenotype HP:6000271 Elevated circulating glycylproline concentration HP:6000271 The concentration of octanoylcarnitine (C8:0) in the blood circulation is above the upper limit of normal. 2024-02-04T07:47:19Z Elevated circulating C8:0 acylcarnitine concentration Elevated circulating O-octanoylcarnitine concentration Elevated octanoylcarnitine concentration Elevated octanoylcarnitine level Elevated octanoylcarnitine level in blood Increased octanoylcarnitine concentration Increased octanoylcarnitine level Increased octanoylcarnitine level in blood human_phenotype HP:6000272 C8: octanoylcarnitine high in blood Elevated circulating octanoylcarnitine concentration HP:6000272 The concentration of decanoylcarnitine (C10:0) in the blood circulation is above the upper limit of normal. 2024-02-04T07:47:19Z C10: decanoylcarnitine high in blood Elevated circulating C10:0 acylcarnitine concentration Elevated circulating o-decanoylcarnitine concentration Elevated decanoylcarnitine concentration Elevated decanoylcarnitine level Elevated decanoylcarnitine level in blood Increased decanoylcarnitine concentration Increased decanoylcarnitine level Increased decanoylcarnitine level in blood human_phenotype HP:6000273 Elevated circulating decanoylcarnitine concentration HP:6000273 Increased concentration of 2-hydroxyphenylacetic acid in the urine. 2024-02-04T07:47:19Z human_phenotype HP:6000274 2--hydroxyphenylacetic aciduria HP:6000274 Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-04T07:47:19Z human_phenotype HP:6000275 4-hydroxyphenyllactic aciduria HP:6000275 HP:0020079 2024-02-10T18:56:37Z human_phenotype HP:6000276 obsolete Elevated urinary beta-alanine level true HP:6000276 The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000277 Elevated CSF beta-alanine concentration HP:6000277 The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000278 Elevated circulating 2-aminoadipic acid concentration HP:6000278 The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal. PMID:23141293 The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000279 Elevated urinary N-carbamoyl-beta-alanine level HP:6000279 Concentration of cystathionine in the cerebrospinal fluid (CSF) above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000280 Elevated CSF cystathionine concentration HP:6000280 The amount of gamma-glutamylphenylalanine in the urine, when normalized for urine concentration, is above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000281 Elevated urinary gamma-glutamylphenylalanine level HP:6000281 The amount of gamma-glutamylphenylalanine in the urine, when normalized for urine concentration, is above the upper limit of normal. PMID:466810 Concentration of aspartylglucosamine in the blood circulation above the upper limit of normal. 2024-02-10T18:56:37Z Aspartylglucosamine high in blood human_phenotype HP:6000282 Elevated circulating aspartylglucosamine concentration HP:6000282 The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal. 2024-02-10T18:56:37Z HP:0034028 Saccharopinuria human_phenotype HP:6000283 Elevated urinary saccharopine level HP:6000283 The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal. PMID:30573525 PMID:32768327 PMID:33996359 Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem). 2024-02-10T18:56:37Z Quadrigeminal plate enlargement Tectal enlargement human_phenotype HP:6000284 Tectal plate enlargement HP:6000284 A swelling or enlargement localized to the retroperitoneal region. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-02-10T18:56:37Z human_phenotype HP:6000285 Retroperitoneal mass HP:6000285 A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. 2024-02-10T18:56:37Z human_phenotype HP:6000286 Focal T1 hyperintense brainstem lesion HP:6000286 A type of fracture that occurs in the trabecular cancellous bone just beneath the subchondral bone plate without disruption of the articular surface. 2024-02-10T18:56:37Z human_phenotype HP:6000287 Subchondral fracture HP:6000287 An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces. 2024-02-10T18:56:37Z human_phenotype HP:6000288 Deep neck abscess HP:6000288 An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces. PMID:30020634 Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis. 2024-02-10T18:56:37Z Epiglottis thumb sign Swollen epiglottis human_phenotype HP:6000289 Epiglottic enlargement HP:6000289 Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis. PMID:21812674 Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine. 2024-02-10T18:56:37Z Increased pre-vertebral space human_phenotype HP:6000290 Prevertebral space enlargement HP:6000290 Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine. PMID:19001541 Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement. 2024-02-10T18:56:37Z Oculomotor nerve thickening human_phenotype HP:6000291 Third cranial nerve thickening HP:6000291 Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement. PMID:22241707 Concentration of sphoingomyelin in tissues above the upper limit of normal. 2024-02-10T18:56:37Z human_phenotype HP:6000292 Elevated tissue sphingomyelin concentration HP:6000292 Medical history of recent iodinated or radioiodine contrast use. 2024-02-11T09:36:11Z human_phenotype HP:6000293 Iodinated contrast media commonly used in various radiologic examinations and interventional procedures results in massive iodide exposure to the thyroid gland. Whereas people with normal thyroids usually experience no ill effects, those with pre-existing thyroid disease may experience thyrotoxicosis (often referred to as thyroid storm in this context), which, if unrecognized, could lead to serious, potentially life-threatening consequences, including atrial arrhythmias, heart failure, pulmonary arterial hypertension, cerebrovascular and pulmonary embolism, and cardiomyopathy. History of recent iodated contrast medium administration HP:6000293 Medical history of recent iodinated or radioiodine contrast use. PMID:23148056 PMID:33948409 Difficulty inserting a nasogastric tube (NGT), a flexible plastic tube that is placed through the nose and esophagus into the stomach and used to administer drugs or for feeding. There are certain circumstances that may make NGT insertion difficult. They are esophageal narrowing, comatose or intubated patients, and patients who have sustained severe facial or skull injuries. 2024-02-11T09:36:11Z human_phenotype HP:6000294 Difficulty passing nasogastric tube HP:6000294 Difficulty inserting a nasogastric tube (NGT), a flexible plastic tube that is placed through the nose and esophagus into the stomach and used to administer drugs or for feeding. There are certain circumstances that may make NGT insertion difficult. They are esophageal narrowing, comatose or intubated patients, and patients who have sustained severe facial or skull injuries. PMID:2917506 A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus. 2024-02-11T09:36:11Z human_phenotype HP:6000295 Persistent falcine venous sinus HP:6000295 A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus. PMID:19779000 A medical history in a male of not having been circumcized. 2024-02-11T09:36:11Z Foreskin present Prepuce present human_phenotype HP:6000296 Neonatal male circumcision is a common surgical procedure. Penis uncircumcised HP:6000296 A medical history in a male of not having been circumcized. PMID:25011345 A medical history of use of facial makeup. 2024-02-11T09:36:11Z Use of makeup on face human_phenotype HP:6000297 Facial makeup use may be associated with canaliculitis, which refers to inflammation of the lacrimal canaliculus. History of facial cosmetic use HP:6000297 A medical history of use of facial makeup. PMID:28722951 A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger. 2024-02-11T09:36:11Z human_phenotype HP:6000298 Snapping sensation at metacarpophalangeal joint HP:6000298 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm. 2024-02-11T09:36:11Z human_phenotype HP:6000299 Forearm pain HP:6000299 A type of displaced fracture in which there has been a rotation of the distal fracture fragment in relation to the proximal portion. 2024-02-11T09:36:11Z human_phenotype HP:6000300 Rotational fracture HP:6000300 Applies to an abnormality that is situated on the skin in areas where bones are close to the surface (bony prominences). 2024-02-11T09:36:11Z human_phenotype HP:6000301 Localized over bony prominences HP:6000301 A past medical history of wearing tight shoes, toe-box shoes, or high heel shoes. 2024-02-11T09:36:11Z human_phenotype HP:6000302 This may be a risk factor for Morton neuroma. History of compressive footwear HP:6000302 A past medical history of wearing tight shoes, toe-box shoes, or high heel shoes. PMID:20934103 Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold. 2024-02-11T09:36:11Z human_phenotype HP:6000303 Decreased skin turgor HP:6000303 Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold. PMID:30705869 Medical history of recently eating wild mushrooms. 2024-02-11T09:36:11Z human_phenotype HP:6000304 Recent foraged mushroom consumption HP:6000304 Medical history of recently eating wild mushrooms. PMID:29262102 Refers to symptomatology that begins in the proximal limbs and subsequently affects the distal limbs. 2024-02-11T09:36:11Z human_phenotype HP:6000305 Proximal to distal progression HP:6000305 The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome). 2024-02-11T10:50:49Z human_phenotype HP:6000306 The patient cannot open or close the mouth, protrude the tongue or close the eyes to orders, but can smile, cry, yell or yawn automatically. Ischemia is the most frequent cause and it is generally due to bilateral opercular lesions, but bilateral subcortical lesions have also been reported. In the anterior opercular syndrome the connections be-tween the motor cortex and the V, VII, IX, XII cranial nuclei and brainstem are interrupted bilaterally. Emotional and spontaneous movements, dependent on extrapyramidal connections, thalamus and hypothalamus, are preserved (automatic-voluntary dissociation). Autonomic-voluntary dissociation of facial movements HP:6000306 The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome). PMID:23809752 A swelling or enlargement localized to the jaw. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-02-11T10:50:49Z human_phenotype HP:6000307 Jaw mass HP:6000307 Exposure to continuous light at night, including night-shift work or a nocturnal lifestyle. 2024-02-11T10:50:49Z human_phenotype HP:6000308 Excessive nocturnal light exposure HP:6000308 Exposure to continuous light at night, including night-shift work or a nocturnal lifestyle. PMID:34903129 Past medical history of a woman who is menstruating, i.e., not premenstrual or post-menopause. 2024-02-11T10:50:49Z human_phenotype HP:6000309 Menstruating female between menarche and menopause HP:6000309 PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis. 2024-02-11T10:50:49Z PPROM human_phenotype HP:6000310 Preterm premature rupture of membranes HP:6000310 PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis. PMID:15167875 PPROM http://purl.obolibrary.org/obo/hp#abbreviation A past medical history that indicates that the patient had a surgical procedure involving the abdomen. 2024-02-11T10:50:49Z human_phenotype HP:6000311 History of abdominal surgery HP:6000311 The thickness of the Descement membrane is above the upper limit of normal. 2024-02-11T10:50:49Z Thick Descemet membrane human_phenotype HP:6000312 Thickened Descemet membrane HP:6000312 Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied. 2024-02-11T10:50:49Z human_phenotype HP:6000313 Right bundle branch block appears with a prevalence of 3% to 7% in the general population, more frequently in men than in women. Incomplete right bundle branch block HP:6000313 Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied. PMID:34100724 Onset of signs or symptoms of disease during the period of a woman's life shortly before the occurrence of the menopause. 2024-02-11T10:50:49Z human_phenotype HP:6000314 Perimenopausal onset HP:6000314 Onset of signs or symptoms of disease during the period of a woman's life after the occurrence of the menopause. 2024-02-11T10:50:49Z human_phenotype HP:6000315 Postmenopausal onset HP:6000315 Spastic weakness found in only one upper or lower extremity. 2024-02-11T10:50:49Z human_phenotype HP:6000316 Spastic monoplegia HP:6000316 Spastic weakness found in only one upper or lower extremity. PMID:24111874 Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases. 2024-02-11T10:50:49Z human_phenotype HP:6000317 Mosaic attenuation pattern in lung HP:6000317 The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism. 2024-02-11T10:50:49Z human_phenotype HP:6000318 Elevated aldosterone:renin ratio HP:6000318 The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism. PMID:25907736 An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus. 2024-02-11T10:50:49Z human_phenotype HP:6000319 Meteorism HP:6000319 An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus. PMID:28613601 Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal. 2024-02-11T10:50:49Z human_phenotype HP:6000320 Failure to elevate ammonia on ischemic exercise HP:6000320 Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal. PMID:3476851 Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal. 2024-02-11T10:50:49Z human_phenotype HP:6000321 It is normal for BP to fluctuate from moment to moment and from day to day. BP fluctuation is related to many factors such as physical activity, emotion, position, respiratory cycle, diet, salt intake, alcohol ingestion, sleep deprivation, and others. Even in otherwise normotensive individuals, BP fluctuation can be substantial during moments of physical or emotional stress or even without overt provocation. Labile Hypertension HP:6000321 The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare. 2024-02-11T10:50:49Z human_phenotype HP:6000322 Absent axon flare response after intradermal histamine injection HP:6000322 The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare. PMID:2456128 Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP. 2024-02-11T10:50:49Z human_phenotype HP:6000323 Reduced sympathoneural responses to the cold pressor test HP:6000323 Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP. PMID:33712946 Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens. 2024-02-11T16:45:08Z human_phenotype HP:6000324 Positive stool Giardia antigen test HP:6000324 Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens. PMID:12574257 Loss of a substantial amount of blood during delivery (some definitions stipulate 1000 ml or more), typically associated with manifestations such as low blood pressure, a rapid heart rate, dizziness, light-headedness, fatigue, and weakness. 2024-02-11T16:45:08Z human_phenotype HP:6000325 Excessive blood loss during delivery HP:6000325 Loss of a substantial amount of blood during delivery (some definitions stipulate 1000 ml or more), typically associated with manifestations such as low blood pressure, a rapid heart rate, dizziness, light-headedness, fatigue, and weakness. PMID:33913640 Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia. 2024-02-11T16:45:08Z human_phenotype HP:6000326 Cardiac valve vegetations HP:6000326 Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia. PMID:17678415 The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph. 2024-02-11T16:45:08Z Flat chest human_phenotype HP:6000327 Thoracic cage flatness HP:6000327 The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph. PMID:3500611 Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments). 2024-02-11T16:45:08Z human_phenotype HP:6000328 During in vitro fertilization treatment, oocyte retrieval is performed after ovarian stimulation via vaginal puncture. Cumulus-oocyte complexes, which consist of cumulus cells surrounding the centrally located oocyte, are isolated from the individual's follicular fluid. This term refers to the finding of oocytes lacking zonae pellucidae. Absent zona pellucida HP:6000328 Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments). PMID:24670168 The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part). 2024-02-11T16:45:08Z human_phenotype HP:6000329 Umbilical cord prolapse HP:6000329 The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part). PMID:31194398 The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal. 2024-02-11T16:45:08Z human_phenotype HP:6000330 Detection of an increased ratio of deoxypyridinoline (Dpyr) to pyridinoline (Pyr) cross-links in urine quantitated by high-performance liquid chromatography is a highly sensitive and specific test for PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome. The normal ratio of Dpyr:Pyr cross-links is approximately 0.2, whereas in kyphoscoliotic EDS the ratio is approximately 6.0. Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine HP:6000330 The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal. PMID:20301635 The amount of thymine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-11T16:45:08Z human_phenotype HP:6000331 Elevated urinary thymine level HP:6000331 The amount of indoleacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-11T16:45:08Z human_phenotype HP:6000332 Elevated urinary indoleacetic acid level HP:6000332 The amount of indoleacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:4228120 Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG. 2024-02-12T08:07:37Z Decreased hepatic phosphorylase kinase activity human_phenotype HP:6000333 Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdown of glycogen. While liver biopsy or muscle biopsy was done routinely in previous years to measure PhK activity, the availability of molecular genetic testing has reduced the need for such invasive procedures. Reduced hepatic phosphorylase kinase activity HP:6000333 Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG. PMID:21634085 Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal. 2024-02-12T08:07:37Z human_phenotype HP:6000334 Reduced hepatic ornithine transcarbamylase activity HP:6000334 Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal. PMID:6733950 The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan. 2024-02-20T09:54:55Z human_phenotype HP:6000335 Elevated urinary quinolinic acid level HP:6000335 The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan. PMID:29517768 A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer. 2024-02-20T09:54:55Z human_phenotype HP:6000336 Rectal duplication HP:6000336 A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer. PMID:26691370 Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures. 2024-02-20T09:54:55Z human_phenotype HP:6000337 Thinned small intestinal mucosa HP:6000337 A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen. 2024-02-20T09:54:55Z human_phenotype HP:6000338 Seminal vesicle hypoplasia HP:6000338 The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal. 2024-02-20T09:54:55Z Small fetal abdominal circumference human_phenotype HP:6000339 This finding may be associated with fetal growth restriction. Decreased fetal abdominal circumference HP:6000339 The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal. PMID:30646865 The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity). 2024-02-20T09:54:55Z human_phenotype HP:6000340 Serr Figures 1 and 2 of PMID:30319217. Prenatal flattened diaphragm HP:6000340 The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity). PMID:30319217 Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis. 2024-02-20T09:54:55Z Snowflake sign human_phenotype HP:6000341 See Figure 1A of PMID:33569485. Snowflake effect in amniotic cavity HP:6000341 Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis. PMID:33569485 An abnormally increased thickness of a leaflet of the mitral valve. 2024-02-20T09:54:55Z human_phenotype HP:6000342 Thickened mitral valve cusp HP:6000342 The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens. 2024-02-20T09:54:55Z human_phenotype HP:6000343 This finding may be observed in autoimmune gastritis. Antiparietal cell antibody positivity HP:6000343 The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens. PMID:34913949 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor. 2024-02-20T09:54:55Z human_phenotype HP:6000344 This finding may be observed in autoimmune gastritis. Anti-intrinsic factor antibody positivity HP:6000344 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor. PMID:34913949 The presence of antibodies in the blood circulation that react against a component of the human immunodeficiency virus (HIV). 2024-02-20T09:54:55Z Anti-HIV antibody positivity human_phenotype HP:6000345 Anti-human immunodeficiency virus antibody positivity HP:6000345 The presence of antibodies in the blood circulation that react against a component of poliovirus. 2024-02-20T09:54:55Z human_phenotype HP:6000346 Anti-polio virus antibody positivity HP:6000346 The presence of antibodies in the blood circulation that react against a component of poliovirus. PMID:32644370 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit. 2024-02-20T09:54:55Z human_phenotype HP:6000347 Anti-NR2A antibody positivity HP:6000347 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit. PMID:28154472 The presence of antibodies in the blood circulation that react against streptolysin O. 2024-02-20T09:54:55Z human_phenotype HP:6000348 Antistreptolysin O (ASO) is an antibody against streptolysin O that is generally produced by Group A Streptococcus (GAS). GAS causes a diverse range of human infections, like pharyngitis, cellulitis, scarlet fever, and others. Moreover, a GAS infection can trigger postinfectious immune-mediated disorders, including acute poststreptococcal glomerulonephritis, acute rheumatic fever, and rheumatic heart disease. Antistreptolysin O antibody positivity HP:6000348 Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal. 2024-02-24T10:53:49Z human_phenotype HP:6000349 Reduced tissue tissue AICAR transformylase activity HP:6000349 Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal. PMID:15114530 Applies to a sign or symptom that is improved or made more bearable by treatment with an agent that reduces gastric acidity such as proton pump inhibitors, histamine receptor blockers,omeprazole, esomeprazole, dexlansoprazole, pantoprazole, lansoprazole, famotidine, or ranitidine. 2024-02-24T10:53:49Z human_phenotype HP:6000350 Ameliorated by gastric acid-reducing therapy HP:6000350 The presence of an antibody in the blood circulation that is directed against a coagulation factor. 2024-02-24T10:53:49Z human_phenotype HP:6000351 Anti-coagulation factor antibody positivity HP:6000351 Excessively rapid eating of food. 2024-02-24T10:53:49Z human_phenotype HP:6000352 Although there is no universally accepted definition of what constitutes excessively rapid eating, one publication states that a meal lasting less than 15 minutes represents tachyphagia. The term also comprises bolting of food, which refers to eat food so quickly that one hardly chews or tastes it. Tachyphagia HP:6000352 Excessively rapid eating of food. PMID:28011862 PMID:34487332 Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts. 2024-02-24T10:53:49Z Reduced argininosuccinate synthetase activity in cultured fibroblasts Reduced hepatic argininosuccinate synthetase activity human_phenotype HP:6000353 Reduced tissue argininosuccinate synthetase activity HP:6000353 Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts. PMID:28111830 Activity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate. 2024-02-24T10:53:49Z human_phenotype HP:6000354 Reduced aspartoacylase activity in cultured fibroblasts HP:6000354 Activity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate. PMID:8252036 Activity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts. 2024-02-24T10:53:49Z human_phenotype HP:6000355 Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts HP:6000355 Activity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts. PMID:9869665 Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal. 2024-02-24T10:53:49Z Reduced MCAD activity in cultured fibroblasts Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts human_phenotype HP:6000356 Reduced tissue medium-chain acyl-CoA dehydrogenase activity HP:6000356 Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal. PMID:2393404 Activity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts. 2024-02-24T10:53:49Z human_phenotype HP:6000357 Reduced cystathionine beta-synthase activity in cultured fibroblasts HP:6000357 Activity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts. PMID:5647845 Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase. 2024-02-24T10:53:49Z human_phenotype HP:6000358 Reduced muscle glycogen phosphorylase activity HP:6000358 Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase. PMID:21880526 Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. 2024-02-24T10:53:49Z human_phenotype HP:6000359 Reduced muscle 6-phosphofructokinase activity HP:6000359 Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis. PMID:6227635 Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase. 2024-02-24T10:53:49Z human_phenotype HP:6000360 Pathogenic variants in the gene encoding N-alpha-acetylglucosaminidase (NAGLU) cause Sanfilippo syndrome B (mucopolysaccharidosis type IIIB). Reduced tissue alpha-N-acetylglucosaminidase activity HP:6000360 Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase. PMID:12202988 Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts. 2024-02-24T10:53:49Z human_phenotype HP:6000361 Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts HP:6000361 Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts. PMID:11757586 A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion. 2024-02-24T10:53:49Z human_phenotype HP:6000362 For instance, the sral sodium loading test involves increasing sodium intake to over 200 mmol/d for 3 days and determining urinary aldosterone from the morning of day 3 to the morning of day 4. The test is abnormal if the amount of urinary aldosterone is above the upper limit of normal. An abnormal test result generally indicates primary aldosteronism. Blunted aldosterone response to aldosterone suppression test HP:6000362 A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion. PMID:20482833 An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip. 2024-02-24T10:53:49Z human_phenotype HP:6000363 Flank mass HP:6000363 A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane. 2024-02-24T10:53:49Z human_phenotype HP:6000364 Synovial cyst HP:6000364 Deposition of brown pigmentation in the conjunctiva. 2024-02-24T10:53:49Z human_phenotype HP:6000365 This feature is a manifestation of alkaptonuria. Brown pigmentation of the conjunctiva HP:6000365 Deposition of brown pigmentation in the conjunctiva. PMID:15249376 PMID:20301627 Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait. 2024-02-24T10:53:49Z human_phenotype HP:6000366 Gastrocnemius contracture HP:6000366 Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait. PMID:22819670 Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography. 2024-02-24T10:53:49Z Central thinning of the ONL human_phenotype HP:6000367 Central thinning of the outer nuclear layer of the retina HP:6000367 Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography. PMID:25829348 Central thinning of the ONL http://purl.obolibrary.org/obo/hp#abbreviation Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. 2024-02-24T10:53:49Z human_phenotype HP:6000368 See Figure 2 of PMID:22034641 and Figure 11 of PMID:30599104. Sonographic renal salt and pepper pattern HP:6000368 Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location. PMID:22034641 PMID:30599104 A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis. 2024-02-24T10:53:49Z human_phenotype HP:6000369 Ductus venosus agenesis with intrahepatic drainage HP:6000369 A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis. PMID:28934814 A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops. 2024-02-24T10:53:49Z human_phenotype HP:6000370 Ductus venosus agenesis with extrahepatic drainage and liver bypass HP:6000370 A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops. PMID:28934814 The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal. 2024-02-24T19:28:00Z human_phenotype HP:6000371 Elevated circulating D-glyceric acid concentration HP:6000371 The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-02-24T19:28:00Z D-glyceric acid high in CSF human_phenotype HP:6000372 Elevated CSF D-glyceric acid concentration HP:6000372 Applies to a sign or symptom that is improved or made more bearable by ingestion of riboflavin (Vitamin B2). 2024-02-24T19:28:00Z human_phenotype HP:6000373 Ameliorated by riboflavin HP:6000373 An increased concentration of interleukin-1beta in the blood circulation. 2024-02-24T19:28:00Z human_phenotype HP:6000374 Increased circulating interleukin 1beta concentration HP:6000374 Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal. 2024-02-24T19:28:00Z human_phenotype HP:6000375 Reduced neutrophil myeloperoxidase activity HP:6000375 Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal. PMID:5796360 Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen. 2024-02-24T19:28:00Z human_phenotype HP:6000376 Jugular foramen stenosis HP:6000376 Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen. PMID:17236138 The presence of extraluminal gas within the bowel wall. 2024-02-24T19:28:00Z Pneumatosis intestinalis human_phenotype HP:6000377 In a symptomatic postoperative patient such a finding on plain radiology or computerized tomography (CT) is often viewed as a signal of impending or actual acute mesenteric ischaemia especially when associated with portal venous gas. Intramural intestinal gas HP:6000377 The presence of extraluminal gas within the bowel wall. PMID:25400871 Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct. 2024-02-24T19:28:00Z human_phenotype HP:6000378 Delayed scintigraphic gallbladder filling HP:6000378 Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct. PMID:30855831 Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting. 2024-02-24T19:28:00Z human_phenotype HP:6000379 Pancreatic arteriovenous malformation HP:6000379 Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting. PMID:29904461 The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1). 2024-02-24T19:28:00Z human_phenotype HP:6000380 Anti-perilipin-1 antibody positivity HP:6000380 The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1). PMID:30283460 PMID:35709010 PMID:35771980 PMID:36538601 Calcification, that is, pathological deposition of calcium salts in the spleen. 2024-02-24T19:28:00Z human_phenotype HP:6000381 Splenic calcification HP:6000381 Abnormal reduction in the length of the esophagus. 2024-02-24T19:28:00Z human_phenotype HP:6000382 The short esophagus was defined by surgeons as the inability to reduce the gastroesophageal (GE) junction below the diaphragm during surgery, due to inadequate esophageal mobilization. Short esophagus was also defined by endoscopists when the GE junction is positioned in adults at a distance less than 40 cm from the mouth (normal value is approximately 45 cm). Short esophagus HP:6000382 Abnormal reduction in the length of the esophagus. PMID:29262377 A full-thickness injury of the wall of the stomach. 2024-02-24T19:28:00Z Gastric rupture human_phenotype HP:6000383 Gastric perforation HP:6000383 A full-thickness injury of the wall of the stomach. PMID:30137838 A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis. 2024-02-24T19:28:00Z human_phenotype HP:6000384 Gastric strangulation is a complication that can occur after the development of acute gastric volvulus. Gastric volvulus HP:6000384 A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis. PMID:29939663 The concentration of sD163 (= soluble cluster of differentiation 163, = soluble CD163) in the blood circulation is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000385 Soluble CD163 is considered to be a marker of alternatively activated (anti-inflammatory) macrophages. Elevated circulating sCD163 concentration HP:6000385 Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating. 2024-02-25T14:23:32Z human_phenotype HP:6000386 Positive cold agglutinin test HP:6000386 Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating. PMID:34285751 The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum. 2024-02-25T14:23:32Z Anti-Donath-Landsteiner antibody positivity human_phenotype HP:6000387 This feature may be observed in paroxysmal cold haemoglobinuria. Anti-D-L antibody positivity HP:6000387 The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum. PMID:34433582 The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells). 2024-02-25T14:23:32Z Antierythrocyte autoantibody positivity human_phenotype HP:6000388 Anti-erythrocyte autoantibody positivity HP:6000388 Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal). 2024-02-25T14:23:32Z human_phenotype HP:6000389 Detection of reducing substances in urine has been a standard laboratory procedure for about 50 yr. It is used as a screening test for inborn errors of carbohydrate metabolism. Although the test has poor specificity and most states perform mandatory newborn screening for the common genetic defects, most clinical laboratories still perform this as a reflex test on all pediatric urine samples. Non-glucose reducing substance in urine HP:6000389 Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal). PMID:17127733 Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis. 2024-02-25T14:23:32Z human_phenotype HP:6000390 Elevated urinary succinylaminoimidazole carboxamide riboside level HP:6000390 Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis. PMID:22180458 Excessive amount of hyaluronic acid in urine. 2024-02-25T14:23:32Z Hyaluronic acid high in urine human_phenotype HP:6000391 Elevated urine hyaluronic acid level HP:6000391 The amount of methylmalonylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000392 Elevated urinary methylmalonylcarnitine level HP:6000392 Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome. 2024-02-25T14:23:32Z Elevated urine THCA level Elevated urine trihydroxycoprostanic acid level human_phenotype HP:6000393 Elevated urine trihydroxycholestanoic acid level HP:6000393 The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000394 Elevated CSF ammonia concentration HP:6000394 An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis. 2024-02-25T14:23:32Z human_phenotype HP:6000395 Positive CSF VDRL test HP:6000395 An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis. PMID:32869202 The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000396 Elevated CSF guanidinoacetic acid concentration HP:6000396 The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:12701824 Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS). 2024-02-25T14:23:32Z human_phenotype HP:6000397 CSF oligoclonal immunoglobulin G bands HP:6000397 Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS). PMID:35277112 The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000398 Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration HP:6000398 The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal. PMID:6539879 The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-02-25T14:23:32Z Alphabeta-crystallin high in CSF human_phenotype HP:6000399 Elevated CSF alpha-crystallin B chain concentration HP:6000399 The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000400 Reduced CSF creatine concentration HP:6000400 The concentration of vitamin K-dependent protein Z in the blood circulation is below the lower limit of normal. 2024-02-25T14:23:32Z Decreased circulating vitamin K-dependent protein Z concentration Decreased vitamin K-dependent protein Z concentration Decreased vitamin K-dependent protein Z level Decreased vitamin K-dependent protein Z level in blood Reduced vitamin K-dependent protein Z concentration Reduced vitamin K-dependent protein Z level Reduced vitamin K-dependent protein Z level in blood human_phenotype HP:6000401 The vitamin K-dependent protein Z is encoded by the PROZ gene (HGNC:9460). Decreased circulating vitamin K-dependent protein Z concentration HP:6000401 The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000402 27-hydroxycholesterol is a primary metabolite of cholesterol. Elevated circulating 27-hydroxycholesterol concentration HP:6000402 The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal. PMID:24288332 The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000403 Elevated circulating lysophosphatidylcholine concentration HP:6000403 The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal. PMID:32717772 The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis. 2024-02-25T14:23:32Z human_phenotype HP:6000404 Reduced circulating insulin-like growth factor 2 concentration HP:6000404 The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal. 2024-02-25T14:23:32Z Decreased circulating NAD+ concentration human_phenotype HP:6000405 The nicotinamide adenine dinucleotide (NAD+/NADH) redox couple functions as cofactors or/and substrates for numerous enzymes to retain cellular redox balance and energy metabolism. Decreased circulating nicotinamide adenine dinucleotide concentration HP:6000405 The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal. PMID:35017669 The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal. 2024-02-25T14:23:32Z Diminished circulating reduced NADH concentration human_phenotype HP:6000406 Diminished circulating reduced nicotinamide adenine dinucleotide concentration HP:6000406 The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal. PMID:35017669 The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal. 2024-02-25T14:23:32Z Elevated FGF23 human_phenotype HP:6000407 Fibroblast growth factor-23 (FGF23) is a bone-derived hormone suppressing phosphate reabsorption and vitamin D hormone synthesis in the kidney. Elevated circulating fibroblast growth factor 23 concentration HP:6000407 The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal. PMID:29892265 The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-02-25T14:23:32Z human_phenotype HP:6000408 Reduced CSF asparagine concentration HP:6000408 A swelling or enlargement localized to the pancreas. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-02-25T14:23:32Z human_phenotype HP:6000409 Pancreatic mass HP:6000409 A swelling or enlargement localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-02-25T14:23:32Z human_phenotype HP:6000410 Small intestine mass HP:6000410 Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region. 2024-02-25T14:23:32Z Compression of seventh cranial nerve human_phenotype HP:6000411 Facial nerve compression HP:6000411 Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs. 2024-02-25T14:23:32Z human_phenotype HP:6000412 Pulmonary perfusion defect HP:6000412 Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs. PMID:33232086 Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare. 2024-02-25T14:23:32Z human_phenotype HP:6000413 Ectopic ureteral orifice HP:6000413 Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare. PMID:2762191 A congenital developmental defect characterized by the presence of two cervices on the uterus. 2024-02-25T14:23:32Z Cervical duplication human_phenotype HP:6000414 Duplicate uterine cervix HP:6000414 A congenital developmental defect characterized by the presence of two cervices on the uterus. PMID:30644250 Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions. 2024-02-25T14:23:32Z human_phenotype HP:6000415 Intradural spinal lipoma HP:6000415 Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions. PMID:21887183 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum. 2024-02-25T14:23:32Z T2 hyperintensities in cerebellum human_phenotype HP:6000416 T2 hyperintense cerebellar lesion HP:6000416 Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself. 2024-02-25T14:23:32Z human_phenotype HP:6000417 Inferior vena cava syndrome (IVCS) iis a sequence of signs and symptoms that refers to obstruction or compression of the inferior vena cava (IVC). Symptoms and signs of IVCS result from a reduced venous return to the heart, as well as a pooling of blood in the IVC, which causes hypotension, tachycardia, lower extremity edema, elevated liver enzymes, end-organ failures and, hypoxia, altered mental status, and death. IVCS is less frequently found in comparison with the superior vena cava syndrome. Inferior vena cava obstruction HP:6000417 Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself. PMID:32809720 A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms. 2024-02-27T10:11:58Z human_phenotype HP:6000418 Rheumatoid nodule HP:6000418 The concentration of proinsulin in the blood circulation is above the upper limit of normal. 2024-02-27T10:11:58Z Elevated plasma proinsulin human_phenotype HP:6000419 Elevated circulating proinsulin concentration HP:6000419 The concentration of proinsulin in the blood circulation is above the upper limit of normal. PMID:9207799 A feeling of stinging or irritation of the eyes. 2024-02-27T10:11:58Z human_phenotype HP:6000420 Burning eye sensation HP:6000420 Buildup of waxy flesh-colored scales on the margin of the eyelid. 2024-02-27T10:11:58Z human_phenotype HP:6000421 Collarettes HP:6000421 Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility. 2024-02-27T10:11:58Z Bullous myringitis Tympanic membrane blister human_phenotype HP:6000422 Tympanic membrane bulla HP:6000422 Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility. PMID:31971705 Applies to an abnormality whose distribution and appearance are located at regions of the male face covered by a beard or mustache. 2024-02-27T10:11:58Z human_phenotype HP:6000423 Beard and mustache distribution HP:6000423 Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy. 2024-02-27T10:11:58Z human_phenotype HP:6000424 Kerion HP:6000424 Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy. PMID:33085351 Applies to an abnormality that is situated in (or predominant in) the trunk of the body. The trunk is the main part of a person's body, not including the head, legs, or arms. 2024-02-27T10:11:58Z human_phenotype HP:6000425 Truncal location HP:6000425 Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts. 2024-02-27T10:11:58Z human_phenotype HP:6000426 Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts HP:6000426 Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts. PMID:11152660 Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts. 2024-02-27T10:11:58Z Reduced alkyl-DHAP synthase activity in cultured fibroblasts human_phenotype HP:6000427 Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts HP:6000427 Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts. PMID:9553082 Accumulation of fibronectin in the glomerulus. 2024-02-27T10:11:58Z human_phenotype HP:6000428 Fibronectin glomerulopathy (FNG) is characterized by extensive deposition of fibronectin in the glomeruli, especially in the mesangial and subendothelial regions. Glomerular fibronectin deposits HP:6000428 Accumulation of fibronectin in the glomerulus. PMID:35774511 Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. 2024-02-27T10:11:58Z human_phenotype HP:6000429 Renal tubular karyomegaly HP:6000429 Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells. PMID:15311851 Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver. 2024-02-27T10:11:58Z Reduced hepatic acetyl-CoA carboxylase activity human_phenotype HP:6000430 Reduced tissue acetyl-CoA carboxylase activity HP:6000430 Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver. PMID:34552920 The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-27T10:11:58Z human_phenotype HP:6000431 Elevated urinary glycolic acid level HP:6000431 The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:4701948 The amount of propionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-27T10:11:58Z human_phenotype HP:6000432 Elevated urine propionic acid level HP:6000432 The amount of butyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-27T10:11:58Z human_phenotype HP:6000433 Elevated urinary butyric acid level HP:6000433 The amount of isovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-02-27T10:11:58Z human_phenotype HP:6000434 Elevated urinary isovaleric acid level HP:6000434 The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal. 2024-02-27T10:11:58Z Alpha-ketoglutarate high in blood human_phenotype HP:6000435 Elevated circulating alpha-ketoglutarate concentration HP:6000435 The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release. 2024-03-02T10:34:04Z human_phenotype HP:6000436 Ghrelin exercises a wide range of functions including, regulation of food intake and energy metabolism, stimulation of gastric acid secretion, motility and pancreatic protein output, modulation of cardiovascular function, stimulation of osteoblast proliferation and bone formation, stimulation of neurogenesis and myogenesis, learning and memory, thymopoiesis, sleep/wake rhythm, aging and a neuroprotective role in neurodegenerative diseases (e.g., Parkinson's disease). Elevated circulating ghrelin concentration HP:6000436 The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release. PMID:29632576 The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal. 2024-03-02T10:34:04Z Decreased circulating O-stearoylcarnitine concentration Decreased stearoylcarnitine concentration Decreased stearoylcarnitine level Decreased stearoylcarnitine level in blood Reduced stearoylcarnitine concentration Reduced stearoylcarnitine level Reduced stearoylcarnitine level in blood human_phenotype HP:6000437 Stearoylcarnitine, also known as acylcarnitine C18:0, is a fatty ester lipid molecule. Decreased circulating stearoylcarnitine concentration HP:6000437 The amount of iodine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-03-02T10:34:04Z human_phenotype HP:6000438 Reduced urinary iodine level HP:6000438 The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal. 2024-03-02T10:34:04Z IL-15 high in blood human_phenotype HP:6000439 Interleukin-15 (IL-15) is a pleiotropic cytokine with a broad range of biological functions in many diverse cell types. Increased circulating interleukin 15 concentration HP:6000439 The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal. PMID:22064066 The concentration of squalene in the blood circulation is below the lower limit of normal. 2024-03-02T10:34:04Z human_phenotype HP:6000440 Squalene, a highly unsaturated hydrocarbon from the triterpenoid family, is synthesized as a precursor for the synthesis of secondary metabolites such as sterols, hormones, or vitamins. Reduced circulating squalene concentration HP:6000440 Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation. 2024-03-02T10:34:04Z human_phenotype HP:6000441 IL-6 is a pleiotropic cytokine with functions such as production of acute phase proteins in the liver, haematopoiesis, osteoclast activation, proliferation and differentiation of B lymphocytes and also the induction of fever in the brain. IL-6 behaves both as a cytokine and myokine in the immune system, affecting many auto-immune diseases. IL-6 is well-known for its effects in diabetes, atherosclerosis, prostate cancer, encephalitis and also rheumatoid arthritis, acting as a pro-inflammatory cytokine reinforcing the inflammatory states. Abnormal circulating interleukin 6 concentration HP:6000441 Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation. PMID:32235786 Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation. 2024-03-02T10:34:04Z human_phenotype HP:6000442 Abnormal circulating interleukin 12 concentration HP:6000442 The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. 2024-03-02T10:34:04Z human_phenotype HP:6000443 Mercury testing may be considered in cases of high consumption of large predatory fish or exposure to mercury vapor . Elevated blood mercury concentration HP:6000443 The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. PMID:26644501 The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. 2024-03-02T10:34:04Z human_phenotype HP:6000444 Cadmium is a toxic metal that can be released into the environment from human activities such as the use of cadmium containing batteries and phosphate fertilizers, incineration of electronic wastes and tobacco smoking. Elevated blood cadmiun concentration HP:6000444 The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. PMID:27486374 The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. 2024-03-02T10:34:04Z human_phenotype HP:6000445 Thallium is a tasteless, odorless, and water-soluble chemical element for which both accidental intoxication and criminal poisoning have been reported. Elevated thallium concentration HP:6000445 The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects. PMID:30020612 The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits. 2024-03-02T10:34:04Z human_phenotype HP:6000446 Abnormal circulating CC chemokine concentration HP:6000446 The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-03-02T10:34:04Z human_phenotype HP:6000447 Decreased CSF asialotransferrin to transferrin ratio HP:6000447 The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal. PMID:18519871 The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin. 2024-03-05T14:11:08Z human_phenotype HP:6000448 Autoimmune blistering diseases (AIBD) encompass a group of disorders characterized clinically by the development of cutaneous and/or mucosal blisters and erosions. Patients synthesize autoantibodies against structural proteins of epidermis and/or dermal-epidermal junction. Pemphigus is a AIBD skin disease caused by the production of autoantibodies that target desmosomal adhesion molecules including desmoglein and desmocollin, among others. Anti-desmocollin antibody positivity HP:6000448 The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin. PMID:34567003 A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development. 2024-03-07T10:29:04Z human_phenotype HP:6000449 Occupational exposure to raw nonsynthetic textiles HP:6000449 A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development. PMID:30137833 Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder). 2024-03-07T10:29:04Z Adenomyomatosis of the gallbladder Epithelial invaginations of the gallbladder forming cystic pockets human_phenotype HP:6000450 Rokitansky-Aschoff gallbladder sinuses HP:6000450 Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder). PMID:31984708 Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic. 2024-03-07T10:29:04Z Calcified gallbladder Calcifying cholecystitis Cholecystopathia chronica calcarea human_phenotype HP:6000451 Most cases of porcelain gallbladder are asymptomatic. However, some patients do exhibit signs of chronic cholecystitis. Patients with chronic cholecystitis usually present with dull right upper abdominal pain that radiates to the mid back or right scapular tip. It is usually associated with fatty food ingestion. The classic physical examination will demonstrate right upper abdominal pain with deep palpation (Murphy's sign). If the patient is very thin or if the gallbladder is enlarged, a firm, hard gallbladder can be palpated in the right upper quadrant of the abdomen. Porcelain gallbladder HP:6000451 Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic. PMID:30085521 Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflammation (cholecystitis). 2024-03-07T10:29:04Z human_phenotype HP:6000452 Gallbladder adhesions HP:6000452 Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflammation (cholecystitis). PMID:34386223 An abnormal connection between the gallbladder and the duodenum. 2024-03-07T10:29:04Z Bouveret syndrome human_phenotype HP:6000453 Following an attack of acute cholecystitis, the resulting inflammation and adhesion of the gallbladder to GI, together with mechanical pressure applied by gallstones on the gallbladder itself and bowel wall, may result in an ischemic tear of the apposed gallbladder and enteric wall; this mechanism potentiates a fistula between the gallbladder and bowel where the gallstone could pass. Bouveret syndrome is the most infrequent variant of gallstone ileus. It results from a gallstone migrating through a bilioenteric fistula and causing obstruction at the gastric outlet and occasionally in also other portions of the intestine. Bilioduodenal fistula HP:6000453 An abnormal connection between the gallbladder and the duodenum. PMID:28613489 Accumulation of gas in the biliary tree. 2024-03-07T10:29:04Z Aerobilia Air in the biliary system human_phenotype HP:6000454 Pneumobilia, or air within the biliary tree of the liver, suggests an abnormal communication between the biliary tract and the intestines, or infection by gas-forming bacteria. Pneumobilia usually can be distinguished from air in the portal venous system by its appearance on computed tomography (CT) scan. Pneumobilia HP:6000454 Accumulation of gas in the biliary tree. PMID:16567248 A gallstone located outside of the gallbladder. 2024-03-07T10:29:04Z Gallstone outside of the gallbladder human_phenotype HP:6000455 This feature may be seen following laparoscopic cholecystectomy complicated by gallstone and biliary spillage into the peritoneal cavity or with Bouveret syndrome (bilioduodenal fistula). Ectopic gallstone HP:6000455 A gallstone located outside of the gallbladder. PMID:27471576 Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls. 2024-03-07T10:29:04Z Confusional arousal Slow speech or confused thinking upon waking human_phenotype Excessive sleep inertia HP:6000456 Episodes of sleep drunkenness may be characterized by disorientation, grogginess, and, at times, significant agitation upon awakening or following forced awakenings. Sleep drunkeness HP:6000456 Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls. PMID:28778232 PMID:35985125 PMID:36401976 Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes. 2024-03-07T10:29:04Z Mallory-Denk bodies human_phenotype HP:6000457 Mallory bodies were once thought to be specific for alcoholic hepatitis but now are known to occur in other liver diseases which include nonalcoholic steatohepatitis, cholestatic liver diseases, primary biliary cirrhosis and hepatocellular carcinoma. Mallory bodies HP:6000457 Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes. PMID:31424884 An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection. 2024-03-07T10:29:04Z human_phenotype HP:6000458 Sulfur-containing abscess HP:6000458 An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection. PMID:29489261 A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket). 2024-03-07T12:06:04Z human_phenotype HP:6000459 Retracted tympanic membrane HP:6000459 A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket). PMID:32890292 Localization of the testis in an anatomic location other than the scrotum. 2024-03-07T12:06:04Z human_phenotype HP:6000460 Ectopic testis usually derives from overdevelopment and lengthening of a segment of the gubernaculum or from obstruction of the entrance to the scrotum. differing from undescended testis (cryptorchidism) in that ectopic testis is a congenitally abnormally located testis, that has descended from the abdominal cavity away from the normal path of descent while undescended testis are congenitally abnormally located testis within the normal path of descent. Ectopic testis HP:6000460 Localization of the testis in an anatomic location other than the scrotum. PMID:31211064 A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF). 2024-03-07T12:06:04Z human_phenotype HP:6000461 Megalencephalic leukoencephalopathy with subcortical cysts is characterized by subcortical cysts that are present in the anterior temporal region most commonly and often in the frontoparietal region. Later, MRI may only reveal cerebral atrophy. The size and number of the cysts may increase over time. See Figure 1 of PMID:21977097. Cerebral subcortical cyst HP:6000461 A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF). PMID:21977097 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13). 2024-03-07T12:06:04Z human_phenotype HP:6000462 Immune-mediated TTP, sometimes referred to as acquired TTP, is caused by ADAMTS13 deficiency mediated by autoantibodies. Anti-ADAMTS13 antibody positivity HP:6000462 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13). PMID:28416507 PMID:31107120 PMID:33540569 A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity. 2024-03-07T12:06:04Z human_phenotype HP:6000463 Habitual mouth breathing HP:6000463 A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity. PMID:29799704 PMID:36159237 An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square. 2024-03-07T12:06:04Z human_phenotype HP:6000464 See Figure 1 of PMID:33258289. Squared off shoulders HP:6000464 An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square. PMID:33258289 The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000465 Elevated urine mesaconic acid level HP:6000465 The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:29909962 The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000466 Elevated urine 3-methyladipic acid level HP:6000466 The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:29909962 The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions. 2024-03-08T06:51:53Z human_phenotype HP:6000467 Elevated urine D-lactate may be observed with D-lactic aciduria with susceptibility to gout. Elevated urine D-lactate level HP:6000467 The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions. PMID:30931947 The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000468 Elevated CSF alpha-ketoglutarate concentration HP:6000468 The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:30635937 The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z 2-methyl-2,3-dihydroxybutyrate high in urine Elevated urine 2-methyl-2,3-dihydroxybutyrate level human_phenotype HP:6000469 Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level HP:6000469 The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal. PMID:29575569 A swelling or enlargement localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging. 2024-03-08T06:51:53Z human_phenotype HP:6000470 Fetal oral masses are usually observed in the second and third trimesters. Fetal oral mass HP:6000470 A swelling or enlargement localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging. PMID:33904194 Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle. 2024-03-08T06:51:53Z Ejaculatory duct dilated human_phenotype HP:6000471 Dilated ejaculatory duct HP:6000471 The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting. 2024-03-08T06:51:53Z human_phenotype HP:6000472 Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells HP:6000472 The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry. 2024-03-08T06:51:53Z human_phenotype HP:6000473 Decreased FOXP3-expressing T cell count HP:6000473 The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry. PMID:20301297 Concentration of a complement component in the blood circulation is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000474 Elevated circulating complement component concentration HP:6000474 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin. 2024-03-08T06:51:53Z human_phenotype HP:6000475 Fodrin, a heterodimer composed of alpha and beta subunits, is an abundant protein of eukaryotic cell membrane skeleton. The alpha/beta-fodrin dimers self-associate head-to-head into tetramers and serve as the basic structural element of the membrane skeleton. Individuals with Sjogren syndrome may display antibodies to fodrin. Anti-beta fodrin antibody positivity HP:6000475 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin. PMID:11673564 The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000476 Elevated circulating tetradecenoylcarnitine concentration HP:6000476 The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000477 Elevated urine 2-trans,4-cis-decadienoylcarnitine level HP:6000477 The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000478 2-trans,4-cis-decadienoylcarnitine is elevated in the blood or plasma of individuals with 2,4-dienoyl-coenzyme a reductase deficiency. Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration HP:6000478 The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal. PMID:15344554 PMID:19578400 PMID:2332510 The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000479 Elevated urine N-acetyltyrosine level HP:6000479 The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:20301688 The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000480 Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. Elevated urine manganese level HP:6000480 The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:1577529 The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000481 Manganese is a trace mineral required for metabolism, growth and tissue formation, and reproduction. It is mainly obtained through food and water, as well as through occupational exposure. Reduced urinary manganese level HP:6000481 The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal. PMID:1577529 Concentration of a catecholamine in the blood circulation below the lower limit of normal. 2024-03-08T06:51:53Z human_phenotype HP:6000482 The group of the catecholamines includes epinephrine (adrenaline), norepinephrine (noradrenaline), and dopamine. Decreased circulating catecholamine concentration HP:6000482 Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. 2024-03-08T06:51:53Z Arachnoidocele human_phenotype HP:6000483 Empty sella turcica HP:6000483 Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland. PMID:22875743 An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS). 2024-03-08T06:51:53Z human_phenotype HP:6000484 Elevated brain guanidinoacetate level by MRS HP:6000484 An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS). PMID:9386672 The concentration of beta-hCG in the blood circulation is above the upper limit of normal. 2024-03-08T12:06:20Z Elevated choriogonadotropin subunit beta concentration Elevated choriogonadotropin subunit beta level Elevated choriogonadotropin subunit beta level in blood Elevated circulating choriogonadotropin subunit beta concentration Increased choriogonadotropin subunit beta concentration Increased choriogonadotropin subunit beta level Increased choriogonadotropin subunit beta level in blood human_phenotype HP:6000485 Elevated circulating beta-hCG concentration HP:6000485 The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal. 2024-03-08T12:06:20Z human_phenotype HP:6000486 Elevated circulating CXCL10 concentration HP:6000486 The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal. PMID:22038159 The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal. 2024-03-08T12:06:20Z human_phenotype HP:6000487 Reduced circulating interleukin 12 concentration HP:6000487 The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal. 2024-03-08T12:06:20Z Fibroblast growth factor 23 hormone low in blood Reduced FGF23 human_phenotype HP:6000488 Reduced circulating fibroblast growth factor 23 concentration HP:6000488 The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal. 2024-03-08T12:06:20Z Abnormal FGF23 concentration human_phenotype HP:6000489 Abnormal circulating fibroblast growth factor 23 concentration HP:6000489 Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extension weakness leads to difficulties in walking on heels. 2024-03-08T14:46:39Z human_phenotype HP:6000490 Impaired heel-walking ability HP:6000490 Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extension weakness leads to difficulties in walking on heels. PMID:29291292 The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin. 2024-03-08T14:46:39Z Anti-FII antibody positivity human_phenotype HP:6000491 Anti-prothrombin antibody positivity HP:6000491 The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin. PMID:3116540 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V. 2024-03-08T14:46:39Z Anti-FV antibody positivity human_phenotype HP:6000492 Anti-factor V antibody positivity HP:6000492 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V. PMID:33505468 The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII. 2024-03-08T14:46:39Z Anti-FVII antibody positivity human_phenotype HP:6000493 Anti-factor VII antibody positivity HP:6000493 The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII. PMID:26962982 The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII. 2024-03-08T14:46:39Z Anti-FVIII antibody positivity human_phenotype HP:6000494 Anti-factor VIII antibody positivity HP:6000494 The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII. PMID:3116540 The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX. 2024-03-08T14:46:39Z Anti-FIX antibody positivity human_phenotype HP:6000495 Anti-factor IX antibody positivity HP:6000495 The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX. PMID:27501440 PMID:28594432 The presence of an antibody in the blood circulation that is directed against factor X. 2024-03-08T14:46:39Z Anti-FX antibody positivity human_phenotype HP:6000496 Anti-factor X antibody positivity HP:6000496 The presence of an antibody in the blood circulation that is directed against factor X. PMID:24074948 The presence of an antibody in the blood circulation that is directed against factor XI. 2024-03-08T14:46:39Z Anti-FXI antibody positivity human_phenotype HP:6000497 Anti-factor XI antibody positivity HP:6000497 The presence of an antibody in the blood circulation that is directed against factor XI. PMID:18519152 The presence of an antibody in the blood circulation that is directed against factor XIII. 2024-03-08T14:46:39Z Anti-FXIII antibody positivity human_phenotype HP:6000498 Anti-factor XIII antibody positivity HP:6000498 The presence of an antibody in the blood circulation that is directed against factor XIII. PMID:29460500 PMID:32759568 The presence of an antibody in the blood circulation that is directed against factor H. 2024-03-08T14:46:39Z Anti-FH antibody positivity human_phenotype HP:6000499 Anti-factor H antibody positivity HP:6000499 The presence of an antibody in the blood circulation that is directed against factor H. PMID:21051740 PMID:30989342 Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia. 2024-03-08T14:46:39Z Peripheral vasoconstriction human_phenotype HP:6000500 Extremities cold to touch HP:6000500 Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia. PMID:34645109 An irregular wavy appearance of sperm acrosomes. 2024-03-08T14:46:39Z human_phenotype HP:6000501 The human acrosome and the acrosome reaction are important for human fertilization. Acrosome-intact sperm bind to the surface of the zona pellucida, where the physiological acrosome reaction is thought to be induced by zona pellucida glycoproteins. The proportion of sperm that react with acrosomes on the surface of the zona pellucida (the zona pellucida-induced acrosome reaction) is strongly correlated with the proportion of oocytes penetrated by sperm during in vitro fertilization. Ruffled acrosome HP:6000501 An irregular wavy appearance of sperm acrosomes. PMID:12095502 The concentration of calprotectin in the blood circulation is above the upper limit of normal. 2024-03-08T14:46:39Z human_phenotype HP:6000502 Calprotectinis an acute-phase protein produced by monocytes and neutrophils in the circulation and inflamed tissues. Elevated circulating calprotectin concentration HP:6000502 A soft tissue continuity in the anteroposterior axis between the toes 4 and 5. 2024-03-08T14:46:39Z human_phenotype HP:6000503 4-5 toe cutaneous syndactyly HP:6000503 A soft tissue continuity in the anteroposterior axis between the toes 4 and 5. PMID:37352860 A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops. 2024-03-08T14:46:39Z human_phenotype HP:6000504 Poly-hill sign HP:6000504 A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops. PMID:11994973 A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. 2024-03-08T14:46:39Z Soft tissue syndactyly of fingers 3-5 Webbed 3th, 4th, and 5th finger Webbed third, fourth, and fifth finger human_phenotype HP:6000505 3-5 finger cutaneous syndactyly HP:6000505 A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. PMID:37352860 Partial dislocation of the radioulnar joint. 2024-03-08T14:46:39Z human_phenotype HP:6000506 Radioulnar subluxation HP:6000506 Partial dislocation of the radioulnar joint. PMID:7747190 Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function. 2024-03-08T14:46:39Z human_phenotype HP:6000507 Non-pitting edema HP:6000507 Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function. PMID:32119339 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide. 2024-03-08T14:46:39Z human_phenotype HP:6000508 It has also been shown that antibodies against the human ferritin peptide are present in more than 90% of patients with active giant cell arteritis, making it a potentially useful diagnostic marker. Anti-human ferritin peptide antibody positivity HP:6000508 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide. PMID:22228484 PMID:36344353 The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000509 Elevated CSF L-2-hydroxyglutaric acid concentration HP:6000509 Concentration of inosine triphosphate in red blood cells is above the upper limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000510 Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes. Elevated erythrocyte inosine triphosphate concentration HP:6000510 Concentration of inosine triphosphate in red blood cells is above the upper limit of normal. PMID:12384777 Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000511 Reduced erythrocyte inosine triphosphatase activity HP:6000511 Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation. 2024-03-09T17:10:09Z human_phenotype HP:6000512 The alpha 3 fucosyltransferases are a family of glycosyltransferases involved in the addition of fucose onto glycoproteins and glycolipids. One of the best defined roles for the alpha 3 fucosyltransferases is in the biosynthesis of the carbohydrate antigen sialyl Lewis X, the minimal ligand for the selectin family of adhesion molecules. Reduced circulating alpha-1,3-fucosyltransferase activity HP:6000512 Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation. PMID:9448836 Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes. 2024-03-09T17:10:09Z human_phenotype HP:6000513 Diminished neutrophil myeloperoxidase activity HP:6000513 Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes. PMID:9354683 Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000514 Reduced erythrocyte uroporphyrinogen III cosynthase activity HP:6000514 Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal. PMID:3674403 The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000515 Elevated 18-hydroxycorticosterone to aldosterone ratio HP:6000515 The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal. PMID:2981240 The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000516 21-Deoxycortisol is a marker for 21-hydroxylase deficiency. Elevated circulating 21-deoxycortisol concentration HP:6000516 The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal. PMID:34780778 The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060). 2024-03-09T17:10:09Z human_phenotype HP:6000517 Elevated monolysocardiolipin/cardiolipin ratio HP:6000517 The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060). PMID:34382226 The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000518 Low maternal vitamin B12 concentration HP:6000518 The concentration of inibin A in the blood circulation is above the upper limit of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000519 Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. Elevated circulating inhibin A concentration HP:6000519 The concentration of inibin A in the blood circulation is above the upper limit of normal. PMID:8940372 The concentration of inhibin B in the blood circulation is above the upper limit of normal. 2024-03-09T17:10:09Z Inhibin B high in blood human_phenotype HP:6000520 Inhibin A and inhibin B are related dimeric protein hormones and endocrine regulators of the reproductive axis. Specifically, inhibin inhibits FSH secretion from the anterior pituitary. The inhibins are synthesized by the gonads and are themselves modulated by FSH. Increased circulating inhibin B concentration HP:6000520 The concentration of inhibin B in the blood circulation is above the upper limit of normal. PMID:8940372 The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). 2024-03-09T17:10:09Z human_phenotype HP:6000521 ipoprotein(a) [Lp(a)] is an atherogenic lipoprotein with a strong genetic regulation. Up to 90% of the concentrations are explained by a single gene, the LPA gene. The concentrations show a several-hundred-fold interindividual variability ranging from less than 0.1 mg/dL to more than 300 mg/dL. Lp(a) plasma concentrations above 30 mg/dL and even more above 50 mg/dL are associated with an increased risk for cardiovascular disease including myocardial infarction, stroke, aortic valve stenosis, heart failure, peripheral arterial disease, and all-cause mortality. Elevated circulating lipoprotein(a) concentration HP:6000521 The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). PMID:34196811 The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667). 2024-03-09T17:10:09Z human_phenotype HP:6000522 Reduced circulating lipoprotein(a) concentration HP:6000522 The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal. HP:6000701 2024-03-09T17:10:09Z human_phenotype HP:6000523 obsolete Increased urinary bile acid level true HP:6000523 The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal. 2024-03-09T17:10:09Z human_phenotype HP:6000524 Abnormal urinary bile acid level HP:6000524 Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal. 2024-03-15T16:48:51Z human_phenotype HP:6000525 Reduced erythrocyte glutathione reductase activity HP:6000525 Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal. PMID:17185460 Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test. 2024-03-15T16:48:51Z human_phenotype HP:6000526 The forearm ischemic exercise test (FIET) has been accepted as an essential clinical laboratory test in the evaluation of patients suspected to have McArdle's disease and other disorders of muscle metabolism. Painful contracture during ischemic exercise and failure to elevate blood lactate duringthe FIET are regarded as the basic screening tests for disorders of anaerobic metabolism in muscle. Failure to elevate lactate upon ischemic exercise test HP:6000526 Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test. PMID:3476851 The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol. 2024-03-15T16:48:51Z human_phenotype HP:6000527 Elevated circulating cholestanol concentration HP:6000527 A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm ). 2024-03-15T16:48:51Z human_phenotype HP:6000528 Livestock exposure HP:6000528 Applies to an abnormality of the skin in which multiple lesions occur at the same time. 2024-03-15T16:48:51Z human_phenotype HP:6000529 Synchronous skin lesions HP:6000529 Refers to a skin lseion that has a snake-like (serpentine) shape. 2024-03-15T16:48:51Z human_phenotype HP:6000530 Lesions of granuloma inguinale are said to have a serpentine appearance. Serpentine skin location HP:6000530 Refers to a skin lseion that has a snake-like (serpentine) shape. PMID:30020678 The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includes alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters. 2024-03-16T18:08:46Z human_phenotype HP:6000531 Abnormal urinary organic compound level HP:6000531 The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-16T18:08:46Z human_phenotype HP:6000532 Urinary histamine excretion may be abnormally high in a variety of clinical settings including systemic mastocytosis. Elevated urinary histamine level HP:6000532 The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:890980 The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-16T18:08:46Z human_phenotype HP:6000533 Elevated urinary N-methylhistamine level HP:6000533 The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:12372095 The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-16T18:08:46Z Ureidopropionic acid high in urine human_phenotype HP:6000534 Elevated urinary ureidopropionic acid level HP:6000534 The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:11675655 The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine. 2024-03-16T18:08:46Z human_phenotype HP:6000535 Porphyrias are a group of diseases that are clinically and genetically heterogeneous and originate mostly from inherited dysfunctions of specific enzymes involved in heme biosynthesis. Such dysfunctions result in the excessive production and excretion of the intermediates of the heme biosynthesis pathway in the blood, urine, or feces, and these intermediates are responsible for specific clinical presentations. An accumulation of the following two different kinds of metabolites may occur: one is the porphyrin precursors, such as 5-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are linear non-fluorescent molecules, and the other kind is the porphyrins, such as uroporphyrins (URO), coproporphyrins (COPRO), and protoporphyrins (PROTO), which are circular molecules that emit fluorescence signals when excited. Porphyrins are the oxidized products of porphyrinogens, which are the actual substrates of the enzymes involved in heme biosynthesis. Porphyrins exist in different isomers depending on the arrangement of the substituents acetate (A), propionate (P), methyl (M), and vinyl (V) of the four pyrroles of the porphyrin ring. Elevated urinary porphyrin level HP:6000535 The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-16T18:08:46Z human_phenotype HP:6000536 Elevated urinary coproporphyrin level HP:6000536 Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands. 2024-03-16T20:25:00Z human_phenotype HP:6000537 Eccrine sweat glands are simple, coiled, tubular glands present throughout the body, most numerously on the soles of the feet. Eccrine sweat glands serve a thermoregulatory function via evaporative heat loss. When the internal temperature of the body rises, sweat glands release water to the skin surface. There, it quickly evaporates, subsequently cooling the skin and blood beneath.; this is the most effective means of thermoregulation in humans. Eccrine sweat glands also participate in ion and nitrogenous waste excretion. Eccrine sweat gland predominance HP:6000537 Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands. PMID:29489179 Applies to an abnormality of the skin whose boundary to the surrounding normal skin is not clearly defined. 2024-03-16T20:25:00Z human_phenotype HP:6000538 Poorly demarcated skin lesion HP:6000538 Medical history of a recent bite or scratch injury due to a cat. 2024-03-16T20:25:00Z History of recent cat scratch human_phenotype HP:6000539 History of recent cat bite HP:6000539 A history of having been in an area with inadequate sewage sanitation in the recent past. 2024-03-16T20:25:00Z human_phenotype HP:6000540 History of recent stay in area with inadequate sewage sanitation HP:6000540 Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions. 2024-03-16T20:25:00Z human_phenotype HP:6000541 Positive cutaneous herpes simplex virus nucleic acid test HP:6000541 Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions. PMID:12834453 Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. 2024-03-16T20:25:00Z human_phenotype HP:6000542 Positive CSF mycobacterium tuberculosis nucleic acid test HP:6000542 HP:6000835 2024-03-16T20:25:00Z human_phenotype HP:6000543 obsolete Positive mycobacterium CSF culture true HP:6000543 The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF). 2024-03-16T20:25:00Z human_phenotype HP:6000544 Ziehl-Neelsen (Z-N) staining of cerebrospinal fluid (CSF) for acid-fast bacilli (AFB) is the cornerstone of the laboratory diagnosis of tuberculous meningitis (TBM). However, the sensitivity of conventional Z-N staining for the detection of AFB in CSF specimens is suboptimal. Positive mycobacterium CSF microscopy HP:6000544 The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF). PMID:28105125 Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction. 2024-03-16T20:25:00Z human_phenotype HP:6000545 Treponema pallidum is the causative agent of syphilis. Positive treponema pallidum PCR test in the blood circulation HP:6000545 Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction. PMID:35315702 Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-03-16T20:25:00Z human_phenotype HP:6000546 Positive human Immunodeficiency virus nucleic acid test in the blood circulation HP:6000546 Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-03-16T20:25:00Z human_phenotype HP:6000547 Positive CSF enterovirus nucleic acid test HP:6000547 Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. PMID:9705364 Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. 2024-03-16T20:25:00Z human_phenotype HP:6000548 Positive CSF Borrelia burgdorferi nucleic acid test HP:6000548 Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.. 2024-03-16T20:25:00Z human_phenotype HP:6000549 Positive CSF arbovirus nucleic acid test HP:6000549 Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-03-16T20:25:00Z human_phenotype HP:6000550 Positive Bartonella henselae nucleic acid test in the blood circulation HP:6000550 Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-03-16T20:25:00Z human_phenotype HP:6000551 Dengue viruses (family Flaviviridae, genus Flavivirus) occur as four antigenically distinct serotypes. Infection with any of them generally leads to a mild, self-limiting febrile illness (dengue fever). However, a more severe form of the disease, involving vascular and hemostatic abnormalities (dengue hemorrhagic fever-dengue shock syndrome), is responsible for a high mortality rate, primarily among children. Positive Dengue virus PCR test in the blood circulation HP:6000551 Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. PMID:1372617 Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction. 2024-03-16T20:25:00Z human_phenotype HP:6000552 JC-virus is also known as JC-Polyomavirus and John Cunningham virus. Positive CSF JC-virus nucleic acid test HP:6000552 Presence of malaria parasites in the peripheral blood. 2024-03-16T20:25:00Z human_phenotype HP:6000553 The analysis of thick blood smears (TBS) is the reference method chosen as a first option for the malaria diagnosis worldwide. In this method, after a blood sample is taken and dried, the TBS is stained. After the staining process, the smear is visually analysed by microscopy, where parasites and leukocytes are identified and counted. Bloodstream Malaria parasite HP:6000553 Presence of malaria parasites in the peripheral blood. PMID:35255896 Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-03-16T20:25:00Z human_phenotype HP:6000554 Positive bloodstream plasmodium falciparum nucleic acid pathogen test HP:6000554 Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000555 Fructose-1,6-bisphosphate aldolase A (fructose-bisphosphate aldolase; EC 4.1.2.13) deficiency is an autosomal recessive disorder associated with hereditary hemolytic anemia. Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity HP:6000555 Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal. PMID:2825199 Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine. 2024-03-17T14:37:46Z human_phenotype HP:6000556 Reduced circulating dopamine beta-hydroxylase activity HP:6000556 Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine. PMID:11857564 Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity. 2024-03-17T14:37:46Z human_phenotype HP:6000557 Reduced erythrocyte bisphosphoglycerate mutase activity HP:6000557 Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity. PMID:25015942 Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell. 2024-03-17T14:37:46Z human_phenotype HP:6000558 Reduced erythrocyte adenylate kinase activity HP:6000558 Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell. PMID:7947281 Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. 2024-03-17T14:37:46Z human_phenotype HP:6000559 Hexokinase catalyzes the first step in glucose metabolism, using ATP for the phosphorylation of glucose to glucose-6-phosphate. Four different forms of hexokinase, designated type HK1, HK2, HK3, and HK4, are present in mammalian tissues. Reduced erythrocyte hexokinase activity HP:6000559 Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle. PMID:7234862 Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000560 Carboxypeptidase N cleaves basic amino acid residues from the C terminal of peptides and proteins. Decreased circulating carboxypeptidase N activity HP:6000560 Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal. PMID:12560874 Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP. 2024-03-17T14:37:46Z human_phenotype HP:6000561 Elevated red cell pyruvate kinase activity HP:6000561 Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal. 2024-03-17T14:37:46Z Reduced circulating ADA2 activity human_phenotype HP:6000562 Reduced circulating adenosine deaminase-2 activity HP:6000562 Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal. PMID:24552285 Activity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts. 2024-03-17T14:37:46Z human_phenotype HP:6000563 Reduced sepiapterin reductase activity in cultured fibroblasts HP:6000563 Activity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts. PMID:22522443 The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000564 VIP is a gut peptide hormone originally reported as a vasodilator in 1970, has multiple physiological and pathological effects on development, growth, and the control of neuronal, epithelial, and endocrine cell functions that in turn regulate ion secretion, nutrient absorption, gut motility, glycemic control, carcinogenesis, immune responses, and circadian rhythms. Elevated circulating vasoactive intestinal peptide concentration HP:6000564 The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal. PMID:31559013 The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000565 holesterol sulfate is quantitatively the most important known sterol sulfate in human plasma. Cholesterol sulfate is a component of cell membranes where it has a stabilizing role, e.g., protecting erythrocytes from osmotic lysis and regulating sperm capacitation. It is present in platelet membranes where it supports platelet adhesion. Cholesterol sulfate can regulate the activity of serine proteases, e.g., those involved in blood clotting, fibrinolysis, and epidermal cell adhesion. As a result of its ability to regulate the activity of selective protein kinase C isoforms and modulate the specificity of phosphatidylinositol 3-kinase, cholesterol sulfate is involved in signal transduction. Elevated circulating cholesterol sulfate concentration HP:6000565 The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal. PMID:12730293 The concentration of lipoprotein-X in the blood circulation is above the upper limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000566 The hypercholesterolemia observed in cholestasis is due to the presence of an anomalous lipoprotein called lipoprotein-X (Lp-X). Lp-X is a lipoprotein rich in phospholipid and free cholesterol present in plasma of patients with cholestasis and, with some variations, in patients with lecithin-cholesterol-acyl-transferase deficiency (LCAT), and after lipid infusion. Lp-X is formed from a bile lipoprotein moving to the blood vessels where it incorporates small quantities of triglycerides, apo-C and esterified cholesterol and becomes a mature Lp-X. Elevated circulating lipoprotein-X concentration HP:6000566 The concentration of oxalate in the blood circulation is above the upper limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000567 Elevated circulating oxalate concentration HP:6000567 The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects. 2024-03-17T14:37:46Z human_phenotype HP:6000568 Ethylene glycol (C2H6O2) is a toxic alcohol that is found in various household and industrial agents including antifreeze. Exposures are generally observed due to accidental or intentional ingestions, with its sweet taste lending to accidental toxic exposures, whereas intentional exposures may be motivated by a suicide attempt or desire for inebriation in the absence of ethanol. Elevated blood ethylene glycol concentration HP:6000568 The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects. PMID:30725694 Exaggerated indentation at the very middle (midline) of the lower lip. 2024-03-17T14:37:46Z human_phenotype HP:6000569 This feature has been observed in Orofaciodigital syndrome XIX (OMIM:620107). See Figure 1a of PMID:36084634. Midline notching of lower lip HP:6000569 Exaggerated indentation at the very middle (midline) of the lower lip. PMID:36084634 Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes. 2024-03-17T14:37:46Z Reduced leukocyte thymidine phosphorylase activity human_phenotype HP:6000570 Reduced tissue thymidine phosphorylase activity HP:6000570 Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes. PMID:10852545 Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle. 2024-03-17T14:37:46Z Reduced leukocyte tripeptidyl peptidase 1 activity Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts human_phenotype HP:6000571 Reduced tissue tripeptidyl peptidase 1 activity HP:6000571 Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle. PMID:37922835 Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-03-17T14:37:46Z human_phenotype HP:6000572 Reduced tissue arginine:glycine amidinotransferase activity HP:6000572 Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. PMID:22386973 Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-03-17T14:37:46Z human_phenotype HP:6000573 Reduced tissue aspartylglucosaminidase activity HP:6000573 Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. PMID:1904874 Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues. 2024-03-17T14:37:46Z human_phenotype HP:6000574 Reduced tissue carnitine-acylcarnitine translocase activity HP:6000574 Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues. PMID:9323572 The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal. 2024-03-17T14:37:46Z human_phenotype HP:6000575 Reduced circulating 6-pyruvoyltetrahydropterin synthase activity HP:6000575 The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal. PMID:3297709 Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts. 2024-03-17T14:37:46Z human_phenotype HP:6000576 Reduced tissue mannosyl-oligosaccharide glucosidase activity HP:6000576 Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts. PMID:10788335 Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. 2024-03-17T14:37:46Z human_phenotype HP:6000577 Reduced tissue 3-methylglutaconyl-CoA hydratase activity HP:6000577 Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. PMID:3082934 Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-03-17T14:37:46Z Reduced tissue gamma-glutamyl transpeptidase activity human_phenotype HP:6000578 Reduced tissue gamma-glutamyltransferase activity HP:6000578 Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts. PMID:29483667 Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue. 2024-03-17T14:37:46Z human_phenotype HP:6000579 Positive oropharangeal infectious agent test HP:6000579 Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-03-17T14:37:46Z human_phenotype HP:6000580 Positive oropharynx poliovirus nucleic acid test HP:6000580 Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive. 2024-03-17T14:37:46Z human_phenotype HP:6000581 Positive synonvial fluid infectious agent test HP:6000581 Growth of an infectious agent in a culture derived from synovial fluid. 2024-03-17T14:37:46Z human_phenotype HP:6000582 Positive synonvial fluid culture HP:6000582 Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis. 2024-03-17T14:37:46Z human_phenotype HP:6000583 Positive synovial fluid gram stain HP:6000583 Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis. PMID:21250117 The presence of antibodies in the blood circulation that react against a component of parvovirus. 2024-03-17T14:37:46Z human_phenotype HP:6000584 Anti Parvovirus antibody positivity HP:6000584 Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion. 2024-03-17T19:09:03Z human_phenotype HP:6000585 It is estimated that TB in the brain parenchyma develops in nearly one of 300 non-treated cases of pulmonary TB cases, and in half of the patients with disseminated TB. Imaging studies, such as CT and MRI with contrast enhancement, are the basis for diagnosis of tuberculoma. The most common image of tuberculoma is a ring-enhancing lesion due to the absence of blood supply in the caseous necrosis center within the tuberculoma. MRI is slightly superior for showing the size of brain lesions and helps to identify the solid caseous necrosis. Images of caseating tuberculoma are generally composed of three zones, an inner iso-intense and hypo-intense layer image due to caseous necrosis (signals in T1WI and T2WI, respectively). In this zone, fluid-attenuated inversion recovery (FLAIR) images reflect extensive necrosis and hypercellularity. A middle layer with hypo-intense and hyperintense signals due to the presence of Langhans giant cells, epithelioid cells, and edema (in T1WI and T2WI, respectively) is enhanced with gadolinium in contrast images, whereas the external layer shows iso-intense and hypo-intense component (signals in T1WI and T2WI) due to the collagenous capsule. Brain parenchymal tuberculoma HP:6000585 Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion. PMID:34900500 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue. 2024-03-17T19:09:03Z Arteriovenous malformation in muscle Muscle AVM human_phenotype HP:6000586 Muscle arteriovenous malformation HP:6000586 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone. 2024-03-17T19:09:03Z Bone vascular malformation human_phenotype HP:6000587 Bone arteriovenous malformation HP:6000587 Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas. 2024-03-17T19:09:03Z human_phenotype HP:6000588 Periosteal elevation HP:6000588 Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas. PMID:32923528 Widening (relatively uniform increase in diameter) of a segment of the esophagus. 2024-03-17T19:09:03Z human_phenotype HP:6000589 This feature can be ascertained by chest computed tomography. Esophageal dilation HP:6000589 Widening (relatively uniform increase in diameter) of a segment of the esophagus. PMID:26639310 A lipoma that is localized to the spine. 2024-03-17T19:09:03Z human_phenotype HP:6000590 Spinal lipoma HP:6000590 Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes. 2024-03-17T19:09:03Z human_phenotype HP:6000591 This abnormality may be observed upon joint imaging in individuals with diseases such as foreign body arthritis, pigmented villonodular synovitis, synovial chondromatosis, and osteochondritis dissecans. Loose body in joint HP:6000591 Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes. PMID:30451404 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column. 2024-03-17T19:09:03Z human_phenotype HP:6000592 Paraspinal arteriovenous malformation HP:6000592 The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus). 2024-03-17T19:09:03Z Accessory tarsal bone human_phenotype HP:6000593 Supernumerary tarsal bone HP:6000593 The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus). PMID:9272214 A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins. 2024-03-18T20:19:37Z human_phenotype HP:6000594 Maxillary cyst HP:6000594 A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material. 2024-03-18T20:19:37Z human_phenotype HP:6000595 Mandibular cyst HP:6000595 Underdevelopment of the six cranial nerve (abducens nerve). 2024-03-18T20:19:37Z human_phenotype HP:6000596 Cranial nerve six (CN VI) is one of the nerves responsible for the extraocular motor functions of the eye, along with the oculomotor nerve (CN III) and the trochlear nerve (CN IV). Sixth cranial nerve hypoplasia HP:6000596 Underdevelopment of the six cranial nerve (abducens nerve). PMID:28613463 Underdevelopment of the third cranial nerve (oculomotor nerve). 2024-03-18T20:19:37Z human_phenotype HP:6000597 Third cranial nerve hypoplasia HP:6000597 Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2). 2024-03-18T20:19:37Z human_phenotype HP:6000598 As a result of the metabolic block in tyrosinaemia type 1, toxic metabolites are formed including succinylacetone, maleylacetoacetate and fumarylacetoacetate. These are responsible for severe disruption of intracellular metabolism of the liver and kidney. Elevated urinary succinylacetone level HP:6000598 Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2). PMID:23311542 The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000599 Elevated levels of 2-oxoisocaproic acid can be found in individuals with Maple syrup urine disease. Elevated urinary 2-oxoisocaproic level HP:6000599 The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z Elevated urinary alpha-ketovalerate level human_phenotype HP:6000600 Elevated urinary 2-oxovaleric acid level HP:6000600 The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000601 Elevated urinary 2-hydroxyisocaproic acid level HP:6000601 The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000602 Isovalerylglycine (IVG) is an acyl glycine. The excretion of certain IVG is increased in isovaleric acidemia. Elevated urinary isovalerylglycine level HP:6000602 The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:17850781 The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000603 2-methyl-3-hydroxybutyric acid is a normal urinary metabolite involved in the isoleucine catabolism and is excreted in abnormally high amounts in alpha-methylacetoacetic aciduria. Elevated urinary 2-methyl-3-hydroxybutyric acid level HP:6000603 The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:9700610 The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000604 Elevated urinary 3-hydroxypentanoic acid level HP:6000604 The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000605 Elevated urinary 7-hydroxyoctanoic acid level HP:6000605 The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000606 Elevated urinary D-glyceric acid level HP:6000606 The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:20949620 The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000607 Elevated urinary 3-hydroxyisobutyric acid level HP:6000607 The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:23835272 The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000608 Elevated urinary 3,4-Dihydroxybutyric acid level HP:6000608 The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:12127325 The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-18T20:19:37Z Elevated urinary 3-hydroxyadipate level human_phenotype HP:6000609 Elevated urinary 3-hydroxyadipic acid level HP:6000609 Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal. 2024-03-18T20:19:37Z human_phenotype HP:6000610 Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Elevated erythrocyte galactose-1-phosphate concentration HP:6000610 Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal. PMID:30172461 Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis. 2024-03-18T20:19:37Z human_phenotype HP:6000611 Significantly higher chitotriosidase activity can be observed in sarcoidosis patients than in healthy controls. Elevated circulating chitotriosidase activity HP:6000611 Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis. PMID:31906975 Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. 2024-03-29T17:23:48Z human_phenotype HP:6000612 Squamosal suture synostosis HP:6000612 Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. PMID:27438438 The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age. 2024-03-29T17:23:48Z human_phenotype HP:6000613 Enlarged fetal lungs HP:6000613 The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age. PMID:7747754 An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath. 2024-03-29T17:23:48Z human_phenotype HP:6000614 Orbital inflammation HP:6000614 Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity. 2024-03-29T17:23:48Z human_phenotype HP:6000615 Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts HP:6000615 Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity. PMID:20301653 Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25). 2024-03-29T17:23:48Z human_phenotype HP:6000616 Reduced muscle glycogen debrancher enzyme activity HP:6000616 Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25). PMID:10472540 Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues. 2024-03-29T17:23:48Z Reduced liver uridine diphosphate glucuronosyltransferase activity Reduced tissue uridine diphosphate glucuronosyltransferase activity human_phenotype HP:6000617 Reduced tissue UDP-glucuronyl-transferase activity HP:6000617 Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues. PMID:9869613 The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected. 2024-03-29T17:23:48Z human_phenotype HP:6000618 See Figure 1 of PMID:37787225. Temporal artery giant cells HP:6000618 The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected. PMID:37787225 Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts. 2024-03-29T17:23:48Z human_phenotype HP:6000619 Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts HP:6000619 Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts. PMID:107509 The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-29T17:23:48Z Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level human_phenotype HP:6000620 Elevated urinary pyrroline hydroxycarboxylic acid level HP:6000620 The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:9700195 Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients. 2024-03-29T17:23:48Z Elevated urinary N-ribosylhistidine level human_phenotype HP:6000621 Elevated urinary N-tau-ribosylhistidine level HP:6000621 Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients. PMID:2992472 The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency. 2024-03-29T17:23:48Z human_phenotype HP:6000622 Elevated urinary ureidoisobutyric acid level HP:6000622 The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency. PMID:12271438 The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-29T17:23:48Z human_phenotype HP:6000623 Elevated urinary N-carbamyl-beta-aminoisobutyric acid level HP:6000623 Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli. 2024-03-29T17:23:48Z human_phenotype HP:6000624 Nipple epidermal Paget cells HP:6000624 Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli. PMID:33085375 Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal. 2024-03-29T17:23:48Z human_phenotype HP:6000625 Penile corporal blood gas ischemia HP:6000625 Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal. PMID:38496140 A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint). 2024-03-29T17:23:48Z human_phenotype HP:6000626 Recent temporal region trauma HP:6000626 Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing. 2024-03-29T17:23:48Z Critical limb ischemia human_phenotype HP:6000627 Rest limb pain HP:6000627 Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing. PMID:25770636 PMID:28613608 A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material. 2024-03-29T17:23:48Z Scalloping of surface of liver and spleen Scalloping of the surface of the liver and spleen human_phenotype HP:6000628 Scalloped appearance of liver surface HP:6000628 A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material. PMID:31082160 Thickening of the skin around the nipple. 2024-03-29T17:23:48Z human_phenotype HP:6000629 Nipple thickening HP:6000629 A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image). 2024-03-29T17:23:48Z Hypoechoic breast nodule human_phenotype HP:6000630 Ultrasonography (US) is an essential tool for evaluating breast masses. Irregular hypoechoic masses on breast ultrasound are usually considered suspicious lesions. Hypoechoic breast mass HP:6000630 A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image). PMID:26576116 An ovarian cyst without septa and a solid component. 2024-03-29T17:23:48Z human_phenotype HP:6000631 Unilocular ovarian cyst HP:6000631 An ovarian cyst without septa and a solid component. PMID:25797108 Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery. 2024-03-29T17:23:48Z human_phenotype HP:6000632 Mesenteric torsion HP:6000632 Abnormal bowel sounds of an unually high frequency. 2024-03-29T17:23:48Z human_phenotype HP:6000633 This finding is characteristic of Ogilvie syndrome. High-pitched bowel sounds HP:6000633 Abnormal bowel sounds of an unually high frequency. PMID:30252358 Applied to a sign orr symptom that is worsed by administration of opiate medications. 2024-03-29T17:23:48Z human_phenotype HP:6000634 Opiate drugs increase pain in narcotic bowel syndrome. Exacerbated by opiate medication HP:6000634 Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells. 2024-03-29T17:23:48Z Granulomatous mastitis human_phenotype HP:6000635 Breast granuloma HP:6000635 Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells. PMID:30800035 A history of exposure to fragrances found in cosmetic products. 2024-03-29T17:23:48Z human_phenotype HP:6000636 Exposure to cosmetic fragrances HP:6000636 Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve. 2024-03-29T17:23:48Z Frey syndrome human_phenotype HP:6000637 Sweating and flushing in the preauricular area in response to mastication HP:6000637 Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve. PMID:32965918 Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. 2024-03-29T17:23:48Z Reduced hepatic hydroxypyruvate reductase activity human_phenotype HP:6000638 Reduced hepatic glyoxylate reductase activity HP:6000638 Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal. PMID:12185464 Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles. 2024-03-29T17:23:48Z human_phenotype HP:6000639 Pompe disease (glycogen storage disease type II, acid maltase deficiency) is an inherited metabolic disorder in which a deficiency of the lysosomal enzyme acid alpha-glucosidase (EC 3.2.1.3/20) causes glycogen storage. Vacuolated lymphocytes - in essence, lysosomes filled with nondegraded material occur in many storage disorders. Glycogen storage in Pompe disease is found in lysosomes throughout the body, including lymphocytes in peripheral blood, liver, and skin. PAS-positive lymphocyte vacuolization HP:6000639 Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles. PMID:20107902 Bone marrow with increased numbers of macrophages heavily laden with lipids. 2024-03-29T17:23:48Z human_phenotype HP:6000640 Lipid-laden bone-marrow macrophages HP:6000640 Increased count of monocytes in the bone marrow. 2024-03-29T17:23:48Z Bone marrow monocytes increased human_phenotype HP:6000641 Bone marrow monocytosis HP:6000641 Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals. 2024-03-30T13:20:05Z human_phenotype HP:6000642 Sunflower cataract HP:6000642 Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals. PMID:25609909 PMID:26577266 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A. 2024-03-30T13:20:05Z LMNA antibody positivity PCNA antibody positivity Prelamin A antibody positivity ki-67 antibody positivity human_phenotype HP:6000643 Anti-lamin A antibody positivity HP:6000643 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A. PMID:1959878 PMID:2271902 The presence of autoantibodies in the blood circulation that react against human lamin C. 2024-03-30T13:20:05Z Prelamin C antibody positivity human_phenotype HP:6000644 Anti-lamin C antibody positivity HP:6000644 The presence of autoantibodies in the blood circulation that react against human lamin C. PMID:1290474 PMID:1959878 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin. 2024-03-30T13:20:05Z human_phenotype HP:6000645 Anti-vinculin antibody positivity HP:6000645 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin. PMID:33411141 PMID:35876914 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5. 2024-03-30T13:20:05Z human_phenotype HP:6000646 Anti-annexin A5 antibody positivity HP:6000646 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5. PMID:15652780 PMID:9067499 An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull. 2024-03-30T13:20:05Z Tense fontanelle human_phenotype HP:6000647 Bulging fontanelle HP:6000647 An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull. PMID:12825844 A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. 2024-03-30T13:20:05Z human_phenotype HP:6000648 3-4 toe cutaneous syndactyly HP:6000648 A soft tissue continuity in the anteroposterior axis between the toes 3 and 4. PMID:25251565 Nail so wide as long with a distal part presenting an acute angle. 2024-03-30T13:20:05Z Triangular shaped nail human_phenotype HP:6000649 Triangular nail HP:6000649 Nail so wide as long with a distal part presenting an acute angle. PMID:20579456 PMID:25251565 PMID:27660117 Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula. 2024-03-30T13:20:05Z Distal tibial and fibular fusion human_phenotype HP:6000650 Distal tibiofibular synostosis HP:6000650 Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula. PMID:27326275 PMID:27577507 Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year. 2024-03-30T13:20:05Z Abnormal maturation of long bone of hand Abnormal ossification involving metacarpal bones human_phenotype HP:6000651 Abnormal metacarpal ossification HP:6000651 Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year. PMID:12624140 A bony projection (spur, osteophyte) originating from a rib. 2024-03-30T13:20:05Z human_phenotype HP:6000652 Rib spur HP:6000652 A bony projection (spur, osteophyte) originating from a rib. PMID:36388615 Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone. 2024-03-30T13:20:05Z Crescent-shaped iliac wing Paraglider shape iliac bone human_phenotype HP:6000653 Crescent-shaped iliac bone HP:6000653 Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone. PMID:28744080 An abnormality of the formation and mineralization of ischial bones. 2024-03-30T13:20:05Z Abnormal ossification of the ischium human_phenotype HP:6000654 Abnormal ischium ossification HP:6000654 An abnormality of the formation and mineralization of ischial bones. PMID:9933334 A partial or complete breakage of the neck of femur. 2024-03-30T13:20:05Z Broken femoral neck Fractured neck of femur human_phenotype HP:6000655 Femoral neck fracture HP:6000655 A partial or complete breakage of the neck of femur. PMID:30726032 Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers. 2024-03-30T13:20:05Z human_phenotype HP:6000656 Papillary dermis eosinophilic hyaline material HP:6000656 Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers. PMID:26803878 Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections. 2024-03-30T13:20:05Z human_phenotype HP:6000657 Pancreatic intraductal papillary mucinous neoplasm HP:6000657 Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections. PMID:35070031 A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa. 2024-03-30T13:20:05Z Medium-size-vessel vasculitis human_phenotype HP:6000658 Medium vessel vasculitis HP:6000658 A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa. PMID:19946711 A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene. 2024-03-30T13:20:05Z human_phenotype HP:6000659 Elevated muscle fiber laminin alpha 5 expression HP:6000659 A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene. PMID:21953594 A swelling or enlargement localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-03-31T21:10:50Z human_phenotype HP:6000660 Paravertebral mass HP:6000660 A swelling or enlargement localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. PMID:30517335 A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith. 2024-03-31T21:10:50Z human_phenotype HP:6000661 Phlebolith HP:6000661 A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith. PMID:37981851 A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding. 2024-03-31T21:10:50Z human_phenotype HP:6000662 Bladder rupture HP:6000662 A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding. PMID:29262195 Increased amount of iron in myocardial tissue. 2024-03-31T21:10:50Z Cardiac iron overload MRI: heart iron content increased human_phenotype HP:6000663 This feature can be assessed by magnetic resonance imaging (MRI). MRI as a reliable, valid, and robust method can provide indirect assessment of cardiac iron overload. Even, it has been advised to determination the degree of cardiac iron overload.8 The reciprocals of T2 and T2*, known as R2 and R2*, are directly proportional to iron. This feature can be seen as a consequence of transfusion treatment in thalassemia. Elevated myocardial iron load HP:6000663 Increased amount of iron in myocardial tissue. PMID:16888797 PMID:28458697 The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos. 2024-03-31T21:10:50Z human_phenotype HP:6000664 Right ventricular regional wall motion abnormality HP:6000664 The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos. PMID:36700970 A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle. 2024-03-31T21:10:50Z human_phenotype HP:6000665 This finding can be observed in arrhythmogenic right ventricular cardiomyopathy and other diseases. Right ventricular regional akinesia HP:6000665 A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle. PMID:20172912 A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement. 2024-03-31T21:10:50Z human_phenotype HP:6000666 Right ventricular regional dyskinesia HP:6000666 A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement. PMID:20172912 A localized, abnormal dilation or bulging of a portion of the right ventricular wall. 2024-03-31T21:10:50Z Right ventricular outpouching human_phenotype HP:6000667 Right ventricular aneurysm can be observed following myocardial infarction, trauma, or infections and with certain congenital heart defects. Right ventricular aneurysm HP:6000667 A localized, abnormal dilation or bulging of a portion of the right ventricular wall. PMID:34256889 Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits. 2024-03-31T21:10:50Z human_phenotype HP:6000668 Glomerular immune-complex deposition HP:6000668 Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits. PMID:16189625 Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations. 2024-03-31T21:10:50Z human_phenotype HP:6000669 This feature is seen in the majority of cases of primary membranous nephropathy. Glomerular PLA2R immune-complex deposition HP:6000669 Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations. PMID:21323563 PMID:25997506 The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-03-31T21:10:50Z human_phenotype HP:6000670 Elevated urinary L-glycerate level HP:6000670 The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:24116921 A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma. 2024-03-31T21:10:50Z human_phenotype HP:6000671 Breast myxoma HP:6000671 A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma. PMID:17214801 A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare. 2024-03-31T21:10:50Z human_phenotype HP:6000672 Ovarian cystadenoma HP:6000672 A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare. PMID:30725635 Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF). 2024-04-01T08:13:26Z Elevated urine 2-betanone level human_phenotype HP:6000673 Butanone, also known as aethylmethylketon or methyl acetone, belongs to the class of organic compounds known as ketones. Abnormal CSF N-acetylaspartic acid concentration HP:6000673 Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal. 2024-04-01T08:13:26Z Decreased CSF N-acetylaspartate acid concentration N-acetylaspartate absent in CSF human_phenotype HP:6000674 Decreased CSF N-acetylaspartic acid concentration HP:6000674 The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-04-01T08:13:26Z human_phenotype HP:6000675 This finding has been observed in squalene synthase deficiency. Elevated urinary mevalonate lactone level HP:6000675 The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:29909962 The presence of autoantibodies in the serum that react to von Willebrand factor (VWF). 2024-04-01T08:13:26Z human_phenotype HP:6000676 This feature is usually seen in the context of Von Willebrand disease (VWD), the most common inherited bleeding disorder. VWD is caused by deficiency or dysfunction of the multimeric glycoprotein, von Willebrand factor (VWF), and is clinically characterized by excessive mucocutaneous bleeding as well as musculoskeletal bleeding in type 3 VWD, the most severe form. Treatment options include infusion of concentrates of VWF, which in some patients leads to the production of alloantikbodies. Anti-von Willebrand factor antibody positivity HP:6000676 The presence of autoantibodies in the serum that react to von Willebrand factor (VWF). PMID:23297130 The absolute count of natural killer cells in the blood, per microlitre, is above the upper limit of normal. 2024-04-01T08:13:26Z Elevated natural killer cell count human_phenotype HP:6000677 Increased total natural killer cell count HP:6000677 The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations. 2024-04-01T08:13:26Z human_phenotype HP:6000678 Myositis-specific autoantibody positivity HP:6000678 The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations. PMID:26424665 Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea. 2024-04-01T08:13:26Z human_phenotype HP:6000679 Abnormal serum osmolality HP:6000679 Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea. PMID:35779183 Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal. 2024-04-01T08:13:26Z human_phenotype HP:6000680 Low serum osmolality HP:6000680 Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal. PMID:35779183 Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal. 2024-04-01T08:13:26Z human_phenotype HP:6000681 High serum osmolality HP:6000681 Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal. PMID:35779183 A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs. 2024-04-01T08:13:26Z human_phenotype HP:6000682 History of compressive dressings HP:6000682 Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics. 2024-04-01T08:13:26Z Triggered by overhead activity human_phenotype HP:6000683 This trigger can apply to rotator cuff syndrome. Triggered by overhead motions HP:6000683 Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics. PMID:23040553 Pain that is perceived to extend or spread out from one area of the body to another. 2024-04-01T08:13:26Z human_phenotype HP:6000684 Radiating pain HP:6000684 Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve. 2024-04-01T08:13:26Z human_phenotype HP:6000685 Mitral opening snap HP:6000685 Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve. PMID:17448551 Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines. 2024-04-01T08:13:26Z human_phenotype HP:6000686 Mucus in stool HP:6000686 The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal. 2024-04-03T07:43:55Z human_phenotype HP:6000687 Elevated circulating CCL3 concentration HP:6000687 The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal. 2024-04-03T07:43:55Z human_phenotype HP:6000688 Elevated circulating CCL4 concentration HP:6000688 The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-04-03T07:43:55Z human_phenotype HP:6000689 Elevated CSF 14-3-3 protein concentration HP:6000689 The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:22993290 Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. 2024-04-03T07:43:55Z human_phenotype HP:6000690 Elevated CSF dihydrobiopterin concentration HP:6000690 Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins. 2024-04-03T07:43:55Z human_phenotype HP:6000691 Atrial fibrillation (AF) is one of the most common tachyarrhythmias observed in the clinic and is characterized by structural and electrical remodelling. Atrial fibrosis, an emblem of atrial structural remodelling, is a complex multifactorial and patient-specific process involved in the occurrence and maintenance of AF. Left atrial fibrosis HP:6000691 Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins. PMID:28882227 PMID:33448312 Any deviation from the normal concentration of proANP (atrial natriuretic peptide pro-hormone) in the blood circulation. 2024-04-03T07:43:55Z human_phenotype HP:6000692 Abnormal circulating proANP concentration HP:6000692 The concentration of NT-proANP (= N-terminal proatrial natriuretic peptide) in the blood circulation is below the lower limit of normal. 2024-04-03T07:43:55Z Reduced long-acting natriuretic peptide concentration human_phenotype HP:6000693 The 126-amino acid peptide atrial natriuretic peptide pro-hormone (proANP1-126) is synthesized and stored in atrial myocytes. Upon distension of the cardiac atria, proANP(residues 1-126) is cleaved and equimolar amounts of the C-terminal fragment proANP(99-126) (ANP) and an N-terminal fragment (proANP(1-98) are secreted from the atria. The N-terminal fragment is subsequently cleaved into smaller peptide fragments, which have natriuretic, diuretic, blood pressure-lowering and kaliuretic properties. ANP is a potent mediator of natriuresis and vasodilatation. Whereas ANP is rapidly removed from the circulation [10], the N-terminal fragments, such as the proANP(1-30) fragment (Nt-proANP), which is also termed long-acting natriuretic peptide and has strong salt-excreting properties itself, are stable and remain in the circulation at manifold higher concentrations than ANP. Nt-proANP measured in peripheral plasma is therefore less prone to fluctuation and may thus be a more reliable measure of atrial ANP secretion than peripheral plasma concentration of ANP itself. Decreased circulating NT-proANP concentration HP:6000693 The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. 2024-04-04T08:15:27Z Elevated circulating delta-1-pyrroline-5-carboxylate concentration human_phenotype HP:6000694 Elevated circulating 1-pyrroline-5-carboxylic acid concentration HP:6000694 The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal. PMID:9700195 Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. 2024-04-04T08:15:27Z human_phenotype HP:6000695 Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity HP:6000695 Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. PMID:2624476 The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal. 2024-04-04T08:15:27Z human_phenotype HP:6000696 Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration HP:6000696 The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal. PMID:15385443 Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme. 2024-04-04T08:15:27Z human_phenotype HP:6000697 Low tissue ferrochelatase activity HP:6000697 Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme. PMID:8571955 The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal. 2024-04-04T08:15:27Z human_phenotype HP:6000698 Elevated circulating heptacarboxylporphyrin concentration HP:6000698 The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal. PMID:11929047 Applied to a sign or symptom that is more severe during mensutruation. 2024-04-04T08:15:27Z human_phenotype HP:6000699 Lipoprotein(a) [Lp(a)] is a macromolecular complex in human plasma which represents a quantitative genetic trait with a heritability of 0.7 or higher. High concentrations of Lp(a) are associated with atherothrombotic disease i.e. myocardial infarction, stroke, peripheral vascular disease and childhood thromboembolism. The covalent Lp(a) complex is assembled in plasma from low-density lipoprotein (LDL) and apolipoprotein(a), a plasminogen-related glycoprotein. Aggravated by menstruation HP:6000699 Applied to a sign or symptom that is more severe during mensutruation. PMID:30523495 PMID:32966006 The concentration of zinc in breast milk is below the lower limit of normal. 2024-04-04T08:15:27Z human_phenotype HP:6000700 Zinc is a normal component in human milk. One known cause is below-normal milk zinc levels due to maternal genetic mutations affecting mammary zinc transport proteins. Reduced breast milk zinc concentration HP:6000700 The concentration of zinc in breast milk is below the lower limit of normal. PMID:35230756 The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-04-04T08:15:27Z HP:6000523 Increased urinary bile acid level human_phenotype HP:6000701 Elevated urinary bile acid level HP:6000701 The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate. 2024-04-04T08:15:27Z Elevated urinary alpha-ketoacetic acid level Elevated urinary glyoxylate level Elevated urinary oxoacetic acid level human_phenotype HP:6000702 Elevated urinary glyoxylic acid level HP:6000702 The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate. PMID:449695 The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal. 2024-04-04T08:15:27Z human_phenotype HP:6000703 Elevated circulating 3-hydroxyanthranilic acid concentration HP:6000703 The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal. PMID:22084587 The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal. 2024-04-04T08:15:27Z Elevated circulating monokine induced by gamma-interferon concentration human_phenotype HP:6000704 CXCL9, also known as monokine induced by gamma-interferon (MIG), can be produced during inflammatory conditions by myeloid cells within the tumor microenvironment. Elevated circulating CXCL9 concentration HP:6000704 The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal. PMID:32060845 Abnormal increase in the thickness (distance between the inner and outer boundaries) of the outer layer (cortex) of the fibula. 2024-05-05T13:38:51Z Broad cortex of fibula Cortical thickening of the fibula Thickened cortex of the fibula Thickened cortices of fibula human_phenotype HP:6000705 Thickened fibular cortex HP:6000705 Abnormal increase in the thickness (distance between the inner and outer boundaries) of the outer layer (cortex) of the fibula. PMID:24389367 Medical history of starting a new medication recently. 2024-05-05T13:38:51Z human_phenotype HP:6000706 Certain conditions can arise from reactions to a vast number of different medications, so this is a newness finding rather than one for any particular drug. New medication added in recent weeks HP:6000706 Pain at night. 2024-05-05T13:38:51Z human_phenotype HP:6000707 Noctural pain HP:6000707 Pain at night. PMID:37214788 An abnormal increase of bone mineral density of the femur. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2024-05-05T13:38:51Z Osteosclerosis of the femur human_phenotype HP:6000708 Femoral osteosclerosis HP:6000708 An abnormal increase of bone mineral density of the femur. Sclerosis is normally detected on a radiograph as an area of increased opacity. PMID:15326622 The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles. 2024-05-08T15:03:21Z Absent palpebral-oculogyric reflex human_phenotype HP:6000709 Absent Bell phenomenon HP:6000709 The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles. PMID:16815872 PMID:36780505 Nodules (yellow-white subretinal pigment epithelium lesions) that form between Bruch membrane and the retinal pigment epithelium. 2024-05-08T15:03:21Z Dalen Fuchs nodules human_phenotype HP:6000710 Dalen-Fuchs nodules may be observed with sympathetic ophthalmia, a rare, severe condition that typically presents as bilateral diffuse granulomatous uveitis secondary to trauma in one eye. Dalen-Fuchs nodules could be also observed in Harada disease. Dalen-Fuchs nodules HP:6000710 Nodules (yellow-white subretinal pigment epithelium lesions) that form between Bruch membrane and the retinal pigment epithelium. PMID:35145783 Applies to a sign or symptom that is provoked or brought about by trauma to the eye. 2024-05-08T15:03:21Z human_phenotype HP:6000711 Triggering by ocular trauma HP:6000711 Applies to a sign or symptom that is provoked or brought about by trauma to the eye. PMID:30081702 PMID:35647958 Deposition of amyloid material in the subepithelial space of the cornea. 2024-05-08T15:03:21Z human_phenotype HP:6000712 See Figure 2 in PMID:23038033. Gelatinous drop-like dystrophic cornea HP:6000712 Deposition of amyloid material in the subepithelial space of the cornea. PMID:23038033 Abnormal accumulation of iron in reticuloendothelial cells of the liver. This feature can be appreciated on liver biopsy by Perls iron stain for granular iron deposition, based on agreement that only discernible hemosiderin granules represent significant iron deposition. 2024-05-08T18:55:23Z human_phenotype HP:6000713 Hepatic reticuloendothelial system cell iron deposition HP:6000713 Abnormal accumulation of iron in reticuloendothelial cells of the liver. This feature can be appreciated on liver biopsy by Perls iron stain for granular iron deposition, based on agreement that only discernible hemosiderin granules represent significant iron deposition. PMID:21274866 Lower than normal amount of kindlin-1 in the epidermis. 2024-05-08T18:55:23Z human_phenotype HP:6000714 In control skin, immunofluorescence labeling with antikindlin-1 antibody shows bright, pan-epidermal staining. In individuals with Kindler syndrome (OMIM 173650), staining is markedly reduced and in some cases absent. Reduced epidermal kindlin-1 expression HP:6000714 Lower than normal amount of kindlin-1 in the epidermis. PMID:14962093 A benign proliferative and asymptomatic intraosseous lesion of the jaw formed by fibrous tissue that contains multiple focus of hemorrhage and an aggregation of multinucleated giant cells. 2024-05-08T18:55:23Z human_phenotype HP:6000715 These lesions occur more frequently in the mandible than in the maxilla, and occur more frequently on the right side than on the left side. In the maxilla, the lesion may invade the maxillary sinus floor, the orbit and/or nasal passages, which can lead to facial asymmetry, nasal deviation, and mobility of associated dental elements. CGCLs can be classified as aggressive or non-aggressive. Central giant cell lesion of the jaw HP:6000715 A benign proliferative and asymptomatic intraosseous lesion of the jaw formed by fibrous tissue that contains multiple focus of hemorrhage and an aggregation of multinucleated giant cells. PMID:20301316 PMID:28316283 PMID:29988246 A type of Hepatic venous outflow obstruction characterized by fibrous concentric narrowing of zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis, and sinusoidal congestion, accomapnied by necrosis of pericentral hepatocytes, and narrowing and eventual fibrosis of central veins. 2024-05-09T07:03:22Z Hepatic sinusoidal obstruction syndrome Hepatic veno-occlusive disease human_phenotype HP:6000716 Hepatic veno-occlusive disease (VOD) may present with fragmented red blood cells, fibrinogen, and Factor VIII/von Willebrand factor can be demonstrated in the subendothelial space of central veins and perivenular zones of hepatic acini. In the later stages, sinusoidal and venous lumen become obliterated by typeI, III, and IV collagen accompanied by an increase in the stellate cells that line the sinusoids. In some cases, fibrous bridges between central venules are observed. Terminal hepatic lobular vascular occlusion HP:6000716 A type of Hepatic venous outflow obstruction characterized by fibrous concentric narrowing of zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis, and sinusoidal congestion, accomapnied by necrosis of pericentral hepatocytes, and narrowing and eventual fibrosis of central veins. PMID:17461490 PMID:20301448 During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. 2024-05-09T07:03:22Z human_phenotype HP:6000717 Axonal spheroids have been found in developmental degeneration and the aging brain, as well as in injury, neuropathy, neuroaxonal dystrophy, and many neurodegenerative diseases. Axonal spheroids can be observed in neurons in a conjunctival biopsy. Axonal spheroids HP:6000717 During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. PMID:20301718 PMID:34678457 Amount of bile salt export pump (BSEP, coded by the ABCB11 gene) in liver tissue below the lower limit of normal. 2024-05-09T07:03:22Z human_phenotype HP:6000718 Decreased liver bile salt export pump expression HP:6000718 Amount of bile salt export pump (BSEP, coded by the ABCB11 gene) in liver tissue below the lower limit of normal. PMID:20800306 PMID:22795478 Concentration or activity of type II iodothyronine deiodinase below the lower limit of normal. The activity can be measured in tissues such as cultured fibroblasts. 2024-05-09T07:03:22Z human_phenotype HP:6000719 Type II iodothyronine deiodinase is a selenoprotein that catalyzes the 5-prime deiodination of thyroxine (T4) to generate an active thyroid hormone, 3,3-prime,5-triiodothyronine (T3). Reduced tissue type II iodothyronine deiodinase activity HP:6000719 Activity of fatty aldehyde dehydrogenase (EC 1.2.1.3) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes. 2024-05-21T09:58:54Z human_phenotype HP:6000720 Reduced tissue fatty aldehyde dehydrogenase activity HP:6000720 Activity of fatty aldehyde dehydrogenase (EC 1.2.1.3) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes. PMID:1939650 The activity of alpha-Amylase (1,4-alpha-D-glucan-4-glucanohydrolase E. C. 3.2.1.1, pancreatic isoamylase) in the blood circulation is below the lower limit of normal. 2024-05-21T09:58:54Z human_phenotype HP:6000721 Alpha-Amylase (1,4-alpha-D-glucan-4-glucanohydrolase E. C. 3.2.1.1.) catalyses the hydrolysis of starch, glycogen and related poly- and oligosaccharides. In acute pancreatitis the hyperamylasemia is characterised by an increased activity in plasma of pancreatic isoamylase. Decreased circulating pancreatic isoamylase activity HP:6000721 The activity of alpha-Amylase (1,4-alpha-D-glucan-4-glucanohydrolase E. C. 3.2.1.1, pancreatic isoamylase) in the blood circulation is below the lower limit of normal. PMID:30675141 Activity of the mitochondrial enzyme guanidinoacetate methyltransferase in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. 2024-05-21T09:58:54Z human_phenotype HP:6000722 Reduced tissue guanidinoacetate methyltransferase activity HP:6000722 Activity of the mitochondrial enzyme guanidinoacetate methyltransferase in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. PMID:15651030 Activity or concentration of in the level of galactokinase (EC 2.7.1.6) in erythrocytes below the lower limit of normal. 2024-05-21T09:58:54Z human_phenotype HP:6000723 Galactokinase catalyzes the phosphorylation of galactose to galactose-1-phosphate, the first step in galactose metabolism. Reduced erythrocyte galactokinase activity HP:6000723 Activity or concentration of in the level of galactokinase (EC 2.7.1.6) in erythrocytes below the lower limit of normal. PMID:7670469 The appearance of small bleeding points after successive layers of scale have been removed from the surface of psoriatic papules or plaques. 2024-05-21T09:58:54Z human_phenotype HP:6000724 Auspitz sign HP:6000724 The appearance of small bleeding points after successive layers of scale have been removed from the surface of psoriatic papules or plaques. PMID:2370333 Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis. 2024-05-21T09:58:54Z human_phenotype HP:6000725 Salty tasting skin HP:6000725 Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis. PMID:25640976 A small firm lump located in the skin of the scalp that is greater than one cm in diameter. 2024-05-21T09:58:54Z Scalp nodules human_phenotype HP:6000726 Scalp nodule HP:6000726 A small firm lump located in the skin of the scalp that is greater than one cm in diameter. PMID:29494084 PMID:30607043 A history of ingestion of undercooked pork. This is particularly relevant in areas with a high prevalence of cysticercosis. 2024-05-21T09:58:54Z human_phenotype HP:6000727 History of undercooked pork ingestion HP:6000727 A history of ingestion of undercooked pork. This is particularly relevant in areas with a high prevalence of cysticercosis. PMID:23265549 A history of exposed to rodents (mice, rats, prarie dogs) within several weeks of the current presenting complaint. 2024-05-21T09:58:54Z human_phenotype HP:6000728 History of recent rodent exposure HP:6000728 Any kind of test for a fungal infectious agent in the cerebrospinal fluid (CSF) positive. 2024-05-21T09:58:54Z human_phenotype HP:6000729 Positive CSF fungus test HP:6000729 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of human T-lymphotropic virus type I. 2024-05-21T09:58:54Z Positive CSF HTLV-1 antibody positivity human_phenotype HP:6000730 Positive CSF human T-lymphotropic virus type I antibody positivity HP:6000730 Detection of Chlamydia trachomatis nucleic acid in the urine by a method such as polymerase chain reaction. 2024-05-21T09:58:54Z human_phenotype HP:6000731 Positive chlamydia trachomatis urine nucleic acid test HP:6000731 The presence of antibodies in the blood circulation that react against streptococcal deoxyribonuclease-B (ADN-B). Almost all group A streptococci have this antigen and a strong elevation of the antibody is observed in patients with acute rheumatic fever, acute glomerulonephritis and other streptococcal infections. 2024-05-21T09:58:54Z human_phenotype HP:6000732 Anti-streptococcus deoxyribonuclease-B antibody positivity HP:6000732 The presence of antibodies in the blood circulation that react against streptococcal deoxyribonuclease-B (ADN-B). Almost all group A streptococci have this antigen and a strong elevation of the antibody is observed in patients with acute rheumatic fever, acute glomerulonephritis and other streptococcal infections. PMID:6752453 Positive detection of a group A streptococcal antigen in a test perforned on a throat swab. 2024-05-21T09:58:54Z human_phenotype HP:6000733 Positive streptococcus A rapid antigen detection test HP:6000733 Positive detection of a group A streptococcal antigen in a test perforned on a throat swab. PMID:36941540 Growth of a mycobacteria in a culture derived from synovial fluid. 2024-05-21T09:58:54Z human_phenotype HP:6000734 Positive synovial mycobacterial culture HP:6000734 Detection of nucleic acid of mycobacteria in the synovial fluid by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000735 Positive mycobacterial synovial nucleic acid test HP:6000735 Detection of nucleic acid of genus Babesia (parasite) in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000736 Positive bloodstream babesia nucleic acid pathogen test HP:6000736 Detection of nucleic acid of an influenza virus in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000737 Positive bloodstream influenza nucleic test HP:6000737 Detection of nucleic acid of parainfluenza virus in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000738 Positive bloodstream parainfluenza virus nucleic acid test HP:6000738 Detection of nucleic acid of an adenovirus in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000739 Positive bloodstream adenovirus nucleic acid test HP:6000739 The presence of antibodies in the blood circulation that react against a component of Francisella tularensis. 2024-05-21T09:58:54Z human_phenotype HP:6000740 Anti-Francisella tularensis antibody positivity HP:6000740 Detection of nucleic acid of Middle East Respiratory Syndrome coronavirus (MERS-CoV) in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000741 Positive bloodstream MERS coronavirus nucleic acid test HP:6000741 Detection of nucleic acid of Corynebacterium diphtheriae in nasopharyngeal secretions by a method such as polymerase chain reaction (PCR). 2024-05-21T09:58:54Z human_phenotype HP:6000742 Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test HP:6000742 Visualization of at least one louse on visual inspection of the head hair. Use of a bright light, magnifying lens, or fine-toothed comb (lice comb) can aid in diagnosis. 2024-05-21T09:58:54Z human_phenotype HP:6000743 Pediculosis capitis HP:6000743 Visualization of at least one louse on visual inspection of the head hair. Use of a bright light, magnifying lens, or fine-toothed comb (lice comb) can aid in diagnosis. PMID:29262055 The presence in the skin of the glabellar region of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. 2024-05-21T09:58:54Z human_phenotype HP:6000744 Premature glabellar skin wrinkling HP:6000744 The presence in the skin of the glabellar region of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. PMID:20949527 Hyperpigmented macules with a reticulate (net-like) pattern involving the neck, axillae, groins, and other flexures like the inframammary folds in females. Histopathology shows orthokeratosis or hyperkeratosis, thinning of the suprapapillary epithelium, elongation of the rete ridges, hyperpigmentation of the basal layer, and follicular cysts. A perivascular lymphohistiocytic infiltrate can be observed in the papillary dermis. 2024-05-21T09:58:54Z Reticular pigmented anomaly of the flexures Reticulate hyperpigmentation of the flexures human_phenotype HP:6000745 Flexural reticulate hyperpigmentation HP:6000745 Hyperpigmented macules with a reticulate (net-like) pattern involving the neck, axillae, groins, and other flexures like the inframammary folds in females. Histopathology shows orthokeratosis or hyperkeratosis, thinning of the suprapapillary epithelium, elongation of the rete ridges, hyperpigmentation of the basal layer, and follicular cysts. A perivascular lymphohistiocytic infiltrate can be observed in the papillary dermis. PMID:24470653 Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting. 2024-05-21T09:58:54Z Uric acid wasting human_phenotype HP:6000746 Elevated fractional excretion of urate HP:6000746 Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting. PMID:12024214 PMID:14655203 The amount of creatine in the urine, normalized for urine concentration, is outside the limits of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000747 Abnormal urinary creatine level HP:6000747 The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000748 Decreased urinary creatine level HP:6000748 The concentration of PINP (= aminoterminal propeptide of type I procollagen) in the blood circulation is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000749 The aminoterminal propeptide of type I procollagen (PINP) in serum is a sensitive indicator of the synthesis of type I collagen. Elevated circulating PINP concentration HP:6000749 Concentration or activity of S-adenosylhomocysteine hydrolase (EC 3.3.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including erythrocytes and liver. 2024-06-13T10:40:08Z human_phenotype HP:6000750 Decreased tissue S-adenosylhomocysteine hydrolase activity HP:6000750 Concentration or activity of S-adenosylhomocysteine hydrolase (EC 3.3.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including erythrocytes and liver. PMID:15024124 The concentration of dopamine in the urine, normalized for urine concentration, is below the lower limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000751 Decreased urinary dopamine level HP:6000751 Concentration of 5-amino-4-imidazolecarboxamide (AICA-riboside) in red blood cells is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000752 Elevated erythrocyte AICA-ribotide concentration HP:6000752 Concentration of 5-amino-4-imidazolecarboxamide (AICA-riboside) in red blood cells is above the upper limit of normal. PMID:15114530 Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000753 Elevated circulating monomethyl sterol concentration HP:6000753 Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal. PMID:21285510 The concentration of dimethylsterols in the blood circulation is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000754 Elevated circulating dimethyl sterol concentration HP:6000754 The concentration of dimethylsterols in the blood circulation is above the upper limit of normal. PMID:21285510 The concentration of the C-terminal portion of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000755 FGF23 is also known as phosphate-regulating hormone. Elevated circulating C-terminal fibroblast growth factor 23 concentration HP:6000755 The concentration of the C-terminal portion of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal. PMID:16869716 The amount of 5-hydroxyindoleacetic acid (5-HIAA) in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000756 Elevated urinary 5-hydroxyindoleacetic acid level HP:6000756 The amount of 5-hydroxyindoleacetic acid (5-HIAA) in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:23363473 The concentration of thiosulfate in the blood circulation is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000757 Thiosulfate is an oxyanion of sulfur with the chemical formula S2O3(2-). Elevated circulating thiosulfate concentration HP:6000757 The concentration of thiosulfate in the blood circulation is above the upper limit of normal. PMID:28933811 The concentration of interleukin 1 receptor antagonist (IL-1RA) in the blood circulation is above the upper limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000758 Elevated circulating interleukin 1 receptor antagonist concentration HP:6000758 Detection of West Nile virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-06-13T10:40:08Z human_phenotype HP:6000759 Positive CSF West Nile virus nucleic acid test HP:6000759 Detection of herpes simplex virus (HSV) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-06-13T10:40:08Z human_phenotype HP:6000760 Positive CSF herpes simplex virus nucleic acid test HP:6000760 A test result demonstrating the presence of a cryptococal antigen in the cerebrospinal fluid (CSF). 2024-06-13T10:40:08Z human_phenotype HP:6000761 Positive CSF cryptococcal antigen test HP:6000761 Growth of rubella virus in a culture derived from cerebrospinal fluid (CSF). 2024-06-13T10:40:08Z human_phenotype HP:6000762 Positive rubella CSF culture HP:6000762 Detection of Treponema pallidum (syphillis) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-06-13T10:40:08Z human_phenotype HP:6000763 Positive CSF treponema pallidum nucleic acid test HP:6000763 Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) below the lower limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000764 Decreased CSF tetrahydrobiopterin level HP:6000764 The concentration of N-acetyl-aspartyl-glutamate (NAAG) in the cerebrospinal fluid (CSF) is below the lower limit of normal. 2024-06-13T10:40:08Z human_phenotype HP:6000765 N-acetyl-aspartyl-glutamate (NAAG) is the most abundant dipeptide in the brain, where it acts as a neuromodulator of glutamatergic synapses by activating presynaptic metabotropic glutamate receptor 3 (mGluR3). Decreased CSF N-acetyl-aspartyl-glutamate concentration HP:6000765 Demonstration of Tropheryma whipplei bacteria in the cerebrospinal fluid (CSF) my microscopic analysis. 2024-06-13T10:40:08Z human_phenotype HP:6000766 T. whipplei is a rod-shaped, Gram-positive bacterium. Positive CSF Tropheryma whipplei bacteria microscopy HP:6000766 Demonstration of Tropheryma whipplei bacteria in the cerebrospinal fluid (CSF) my microscopic analysis. PMID:28298472 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of treponema pallidum (syphilis). 2024-06-13T10:40:08Z Positive CSF Treponema pallidum hemoagglutination assay Positive CSF Treponema pallidum particle agglutination test Positive CSF fluorescent treponemal antibody absorption human_phenotype HP:6000767 CSF treponemal antibody positivity HP:6000767 A stimulus triggered repetition of an action (echopraxia) or sound (echolalia) performed without the explicit awareness of an individual. 2024-06-19T08:47:51Z human_phenotype HP:6000768 Echophenomenon HP:6000768 A stimulus triggered repetition of an action (echopraxia) or sound (echolalia) performed without the explicit awareness of an individual. PMID:25455694 Increased autofluorescence in areas adjacent to the central macula (but not including the very center). 2024-06-19T08:47:51Z human_phenotype HP:6000769 Paracentral hyper-autofluorecence HP:6000769 A condition in which the limbs of a fetus are immobile or held in a rigid position. The limbs are consistently immobile and rigid. Fixed extremities can be observed during prenatal imaging (e.g., ultrasound). 2024-06-19T08:47:51Z human_phenotype HP:6000770 Fixed fetal extremities HP:6000770 The density of the deep peripapillary microvascular network (i.e., the number of blood vessels) is below the lower limit of normal. This finding is observable by optical coherence tomography angiography. 2024-06-19T08:47:51Z human_phenotype HP:6000771 Abnormal peripapillary microvascular network HP:6000771 Inflammation of the skin and soft tissues of the outer ear. 2024-06-19T08:47:51Z Auricular inflammation human_phenotype HP:6000772 In contrast to auricular chondritis, auriculitis does not specifically affect the cartilage of the ear. Auriculitis HP:6000772 A recent history of being exposed to moisture in the external ear canal. 2024-06-19T08:47:51Z human_phenotype HP:6000773 Swimmer's ear may occur when excess moisture in the ear canal allows bacteria or fungi to grow more easily. Risk factors include swimming and use of ear buds while exercising (and sweating). Recent history of moisture in external ear canal HP:6000773 A recent history of being exposed to moisture in the external ear canal. PMID:37261805 Medical history of trauma to the external ear canal, including cotton-swab use, in recent weeks. 2024-06-19T08:47:51Z human_phenotype HP:6000774 History of recent trauma to external ear canal HP:6000774 The amount of 4-tyramine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-25T09:01:29Z human_phenotype HP:6000775 This feature has been observed in Acrocapitofemoral dysplasia; See Figure 4 of PMID:12624140. Elevated urinary 4-tyramine level HP:6000775 The amount of 4-tyramine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:12624140 The concentration of 3-hydroxykynurenine in the blood circulation is above the upper limit of normal. 2024-06-25T09:01:29Z human_phenotype HP:6000776 Elevated circulating 3-hydroxykynurenine concentration HP:6000776 The concentration of 3-hydroxykynurenine in the blood circulation is above the upper limit of normal. PMID:28792876 Exaggerated posterior vertebral notches. 2024-06-25T09:01:29Z human_phenotype HP:6000777 Posterior vertebral body notching HP:6000777 Exaggerated posterior vertebral notches. PMID:12624140 The distal epiphysis (rounded portion of bone at the far end of the tibia distal to the growth plate) has an abnormal cone-shaped appearance, that is, the epiphysis has a globular form at the bottom, tapering to a point at the top. 2024-06-25T09:01:29Z human_phenotype HP:6000778 Cone-shaped distal tibial epiphysis HP:6000778 The distal epiphysis (rounded portion of bone at the far end of the tibia distal to the growth plate) has an abnormal cone-shaped appearance, that is, the epiphysis has a globular form at the bottom, tapering to a point at the top. PMID:12624140 Low bone mass localized in the neck of the femur. Osteoporosis is defined based on a T-score of -2.5 or lower (bone mineral density of 2.5 or more standard deviations below that of a normal young adult). 2024-06-25T11:22:06Z Osteoporosis of femoral neck human_phenotype HP:6000779 Osteoporotic femoral neck HP:6000779 Low bone mass localized in the neck of the femur. Osteoporosis is defined based on a T-score of -2.5 or lower (bone mineral density of 2.5 or more standard deviations below that of a normal young adult). PMID:35378630 History of having taken olanzapine. 2024-06-25T11:22:06Z human_phenotype HP:6000780 Olanzapine exposure has been associated with acute pancreatitis. Olanzapine exposure HP:6000780 History of having taken olanzapine. PMID:35510088 Activity of the enzyme phosphomannomutase (EC 5.4.2.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver. 2024-06-25T12:32:58Z human_phenotype HP:6000781 Reduced tissue phosphomannomutase activity HP:6000781 Activity of the enzyme phosphomannomutase (EC 5.4.2.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver. PMID:11343337 Activity of the mitochondrial enzyme phosphomannose isomerase (PMI; EC 5.3.1.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver. 2024-06-25T12:32:58Z human_phenotype HP:6000782 Reduced tissue phosphomannose isomerase activity HP:6000782 Activity of the mitochondrial enzyme phosphomannose isomerase (PMI; EC 5.3.1.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver. PMID:9525984 Activity of the enzyme palmitoyl-protein thioesterase (PPT; EC 3.1.2.22) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes. 2024-06-25T12:32:58Z human_phenotype HP:6000783 Reduced tissue palmitoyl-protein thioesterase activity HP:6000783 Activity of the enzyme palmitoyl-protein thioesterase (PPT; EC 3.1.2.22) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes. PMID:9535296 The mother of a fetus or index patient has a history of regular exposure to one or more cats, e.g., in the household. 2024-06-25T12:32:58Z human_phenotype HP:6000784 This exposure may confer a risk for toxoplasmosis in the fetus. Maternal household cat exposure HP:6000784 Unusually strong preference for protein-rich foods. 2024-06-25T12:32:58Z human_phenotype HP:6000785 Protein craving HP:6000785 Unusually strong preference for protein-rich foods. PMID:20301360 The pulsation of the superficial temporal artery cannot be detected on physical examination. 2024-06-29T13:32:39Z human_phenotype HP:6000786 Absent superficial temporal artery pulse HP:6000786 A fenestration affecting the basilar artery. Basilar fenestration typically occurs at the lower end of the basilar artery just as the vertebral arteries join Fenestrations of intracranial arteries are segmental duplications of the lumen into two distinct endothelium-lined channels, which may or may not share their adventitial layer. They can range from a small focus of divided tissue to long-segment duplication. Fenestrations are the result of partial failure of fusion of paired primitive embryologic vessels or incomplete obliteration of different anastomosis in a primitive vascular network. The association of fenestrations with aneurysms has been suggested in many small case series, though the exact relationship is not well defined. 2024-06-29T13:32:39Z Basilar fenestration human_phenotype HP:6000787 Basilar artery fenestration HP:6000787 A fenestration affecting the basilar artery. Basilar fenestration typically occurs at the lower end of the basilar artery just as the vertebral arteries join Fenestrations of intracranial arteries are segmental duplications of the lumen into two distinct endothelium-lined channels, which may or may not share their adventitial layer. They can range from a small focus of divided tissue to long-segment duplication. Fenestrations are the result of partial failure of fusion of paired primitive embryologic vessels or incomplete obliteration of different anastomosis in a primitive vascular network. The association of fenestrations with aneurysms has been suggested in many small case series, though the exact relationship is not well defined. PMID:23250566 Dislocation of the extensor tendons from their central position on the metacarpal heads can be traumatic, congenital, spontaneous, or degenerative. 2024-06-29T13:32:39Z human_phenotype HP:6000788 Displacement of the extensor tendon in metacarpophalangeal joint HP:6000788 Dislocation of the extensor tendons from their central position on the metacarpal heads can be traumatic, congenital, spontaneous, or degenerative. PMID:37425263 A corn, also known as a clavus, heloma, or focal intractable plantar hyperkeratosis, is a type of callosity. Corns are uncomfortable, thickened skin lesions that result from repeated mechanical trauma due to friction or pressure forces. 2024-06-29T13:32:39Z Clavus Corn Focal intractable plantar hyperkeratosis human_phenotype HP:6000789 Heloma HP:6000789 A corn, also known as a clavus, heloma, or focal intractable plantar hyperkeratosis, is a type of callosity. Corns are uncomfortable, thickened skin lesions that result from repeated mechanical trauma due to friction or pressure forces. PMID:29262147 Applied to a sign or symptom that is aggravated by (or made more painful by) pronation. Pronation of the hand involves the rotation of the forearm and wrist so that the palm of the hand faces downwards or towards the back (posteriorly). 2024-06-29T13:32:39Z human_phenotype HP:6000790 Exacerbated by pronation HP:6000790 Change in the normal shape (displacement, asymmetry) of the anterior part of the interhemispheric fissure. This finding can be identified prenatally by sonography or magnetic resonance imaging. 2024-06-29T13:32:39Z human_phenotype HP:6000791 Distortion of the anterior part of the interhemispheric fissure HP:6000791 Change in the normal shape (displacement, asymmetry) of the anterior part of the interhemispheric fissure. This finding can be identified prenatally by sonography or magnetic resonance imaging. PMID:23640781 PMID:34984691 Growth of Actinomyces israelii (anaerobic filamentous gram positive) culture of lacrimal discharge or concretions. 2024-06-29T13:32:39Z human_phenotype HP:6000792 Positive lacrimal tract actinomyces culture HP:6000792 A type of wound characterized by dry, black, hard necrotic tissue. 2024-06-29T13:32:39Z Black eschar Black spot Tache noire human_phenotype HP:6000793 Since necrotic tissue can also harbour pathogenic organisms, removal of such tissue helps to prevent wound infection. Necrotic tissue and slough should be debrided with a scalpel so that the wound bed can be accurately assessed and facilitate healing. Eschar may be adherent to the wound bed, making debridement with a scalpel difficult. Further debridement, as part of wound management, may be required using other techniques. Eschar HP:6000793 A type of wound characterized by dry, black, hard necrotic tissue. PMID:16455730 History of wearing tight clothing such as compression shorts, sports bras, bike shorts, wet suits, spandex, veils, and tight hats. 2024-06-29T13:32:39Z human_phenotype HP:6000794 This may be a risk factor for tinea. History of wearing tightly fitted clothing HP:6000794 The presence of autoantibodies (immunoglobulins) in the serum that react against the folate receptor in the blood circulation. 2024-06-29T16:17:30Z human_phenotype HP:6000795 Anti-folate receptor antibody positivity HP:6000795 The presence of autoantibodies (immunoglobulins) in the serum that react against the folate receptor in the blood circulation. PMID:38068740 An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in peripheral blood, suggesting past or present syphilis. 2024-06-29T16:17:30Z VDRL positive in blood VDRL reactive in blood circulation human_phenotype HP:6000796 Positive bloodstream VDRL test HP:6000796 Positive result of the the rapid plasma reagin test (RPR test. This is a rapid diagnostic test that looks for non-specific antibodies in the blood of the patient that may indicate an infection by syphilis or related non-venereal treponematoses. 2024-06-29T16:17:30Z human_phenotype HP:6000797 Positive bloodstream rapid plasma reagin test HP:6000797 Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream. 2024-06-29T16:17:30Z human_phenotype HP:6000798 Positive bloodstream HIV p24 antigen test HP:6000798 Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream. PMID:7561186 A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens. 2024-06-29T16:17:30Z human_phenotype HP:6000799 Positive Quantiferon tuberculosis test HP:6000799 A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens. PMID:29743310 Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection. 2024-06-29T16:17:30Z human_phenotype HP:6000800 Tzanck smear was first introduced in 1947 by Frenchman Tzanck as a tool of diagnostic cytology for diagnosis of vesiculobullous conditions, especially herpes simplex. With time it evolved and Tzanck smear findings for several other dermatological conditions like immunobullous disorders, genodermatosis, cutaneous infections, and cutaneous tumors have also been described. Tzanck smear with multinucleated giant cells HP:6000800 Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection. PMID:29118470 Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results. 2024-06-29T16:17:30Z human_phenotype HP:6000801 Positive Mazzotti test HP:6000801 Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results. PMID:3194667 Detection of nucleic acid of Tropheryma whipplei in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-06-29T16:17:30Z human_phenotype HP:6000802 Positive bloodstream Tropheryma whipplei nucleic acid test HP:6000802 The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-29T16:17:30Z human_phenotype HP:6000803 Elevated urinary 2,8-dihydroxyadenine level HP:6000803 The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:22934314 Amount of fructose in the urine above the upper limit of normal. 2024-06-29T16:17:30Z human_phenotype HP:6000804 Elevated urine fructose level HP:6000804 Amount of fructose in the urine above the upper limit of normal. PMID:7833921 The amount of uroporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-29T16:17:30Z human_phenotype HP:6000805 Elevated urinary uroporphyrin level HP:6000805 The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-29T16:17:30Z human_phenotype HP:6000806 Elevated urinary phosphohydroxylysine level HP:6000806 The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:23242558 Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. 2024-06-29T17:12:42Z human_phenotype HP:6000807 Cervical C6/C7 vertebrae fusion HP:6000807 Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. PMID:25206089 The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen. 2024-06-29T17:12:42Z human_phenotype HP:6000808 Periumbilical depression HP:6000808 The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen. PMID:16096999 Abnormally increased thicknes of the cortical layer of the tibia. 2024-06-29T17:12:42Z Thickened cortex of the tibia human_phenotype HP:6000809 Thickened tibial cortex HP:6000809 Abnormally increased thicknes of the cortical layer of the tibia. PMID:21249479 PMID:24390061 Abnormally increased thicknes of the cortical layer of the femur. 2024-06-29T17:12:42Z human_phenotype HP:6000810 Thickened femoral cortex HP:6000810 Abnormally increased thicknes of the cortical layer of the femur. PMID:24390061 Abnormally increased thickness of the cortical layer of the radius. 2024-06-29T17:12:42Z human_phenotype HP:6000811 Thickened cortex of the radius HP:6000811 Abnormally increased thickness of the cortical layer of the radius. PMID:24389367 PMID:24390061 Abnormally increased thickness of the cortical layer of the ulna. 2024-06-29T17:12:42Z human_phenotype HP:6000812 Thickened cortex of the ulna HP:6000812 Abnormally increased thickness of the cortical layer of the ulna. PMID:24390061 Aspartate aminotransferase to alanine aminotransferase ratio increased greater than 1.5. 2024-06-29T17:12:42Z human_phenotype HP:6000813 Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio HP:6000813 The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction. 2024-06-29T17:12:42Z Temporomandibular malocclusion human_phenotype HP:6000814 Temporomandibular joint dislocation HP:6000814 The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction. PMID:25483448 PMID:26668447 Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter. 2024-06-29T17:12:42Z Thyroid gland amyloidosis human_phenotype HP:6000815 Amyloid goiter HP:6000815 Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter. PMID:19168408 PMID:19318742 PMID:32874558 Abnormally large lesser trochanter. 2024-06-29T17:12:42Z human_phenotype HP:6000816 Prominent lesser trochanters in combination with short femoral necks and medial metaphyseal beaking forms a monkeywrench or Swedish- key appearance, which is characteristic for Desbuguois dysplasia . Prominent lesser trochanter HP:6000816 Abnormally large lesser trochanter. PMID:27030147 Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax. 2024-06-29T17:12:42Z human_phenotype HP:6000817 The word Melorheostosis is used to denote a disease (OMIM:155950), but is also used a feature or phenotype, e.g., Buschke-Ollendorff syndrome (OMIM:166700). Melorheostosis HP:6000817 Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax. PMID:31129707 A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. 2024-06-29T17:12:42Z Transverse terminal limb reduction human_phenotype HP:6000818 Terminal transverse limb deficiency is a congenital anomaly that appears as an amputation at different levels of a limb. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. Transverse terminal limb defect HP:6000818 A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. PMID:34263545 The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal. 2024-06-29T19:09:50Z human_phenotype HP:6000819 Elevated circulating beta-glucuronidase activity HP:6000819 The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal. PMID:30046013 Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol.. 2024-06-29T19:09:50Z human_phenotype HP:6000820 High serum osmolarity with an osmolar gap can be yielded by hyperlipidemia or hyperproteinemia, sugars (mannitol, sorbitol), and alcohols. Elevated osmolality gap HP:6000820 Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol.. PMID:36000112 The concentration of bile alcohols in the blood circulation is above the upper limit of normal. 2024-06-29T19:09:50Z human_phenotype HP:6000821 This phenotypic feature may be observed in Cerebrotendinous Xanthomatosis. Elevated circulating bile alcohol concentration HP:6000821 The concentration of bile alcohols in the blood circulation is above the upper limit of normal. PMID:20301583 Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. 2024-06-29T19:09:50Z human_phenotype HP:6000822 Elevated CSF tetrahydrobiopterin level HP:6000822 The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2024-06-29T19:09:50Z human_phenotype HP:6000823 Elevated CSF 5-hydroxyindoleacetic acid concentration HP:6000823 Presence of at least 10% eosinophils in the total cerebrospinal fluid (CSF) leukocyte count. 2024-06-29T19:09:50Z Eosinophilia in the CSF human_phenotype HP:6000824 Cerebrospinal fluid eosinophilia HP:6000824 Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal. 2024-06-30T12:14:21Z human_phenotype HP:6000825 Reduced C27 3beta-HSD activity in cultured fibroblasts HP:6000825 Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal. PMID:11067870 Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences. 2024-06-30T12:14:21Z human_phenotype HP:6000826 Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts HP:6000826 Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences. PMID:2504907 Concentration or activity of fumarylacetoacetate hydrolase (FAH; EC 3.7.1.2) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-06-30T12:14:21Z human_phenotype HP:6000827 Diminished tissue fumarylacetoacetate hydrolase activity HP:6000827 Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts. 2024-06-30T12:14:21Z Reduced tissue prolidase activity human_phenotype HP:6000828 Reduced tissue peptidase D activity HP:6000828 Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts. PMID:12384772 PMID:3139929 Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-06-30T12:14:21Z human_phenotype HP:6000829 Biochemically, the glycine cleavage enzyme system is composed of the P-protein (GLDC gene, MIM# 238300), which removes CO2 from glycine and transfers the amino-methyl group to lipoate on the H-protein (GCSH gene, MIM# 238330), and the T-protein (AMT gene, MIM# 238310) which releases ammonia and forms methylenetetrahydrofolate, after which the reduced lipoate is re-oxidized by the L-protein. Reduced tissue glycine cleavage enzyme activity HP:6000829 Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. PMID:18941301 Concentration or activity of the alpha-ketoglutarate dehydrogenase complex as measured in cultured fibroblasts is below the limits of normal. This enzyme is a multienzyme complex consisting of 3 protein subunits, oxoglutarate dehydrogenase, also known as alpha-ketoglutarate dehydrogenase or E1k (EC 1.2.4.2.), dihydrolipoyl succinyltransferase (DLST, or E2k; 126063), and dihydrolipoyl dehydrogenase (DLD, or E3; 238331). The complex catalyzes a key reaction in the Krebs tricarboxylic acid cycle. 2024-06-30T12:14:21Z human_phenotype HP:6000830 Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts HP:6000830 The concentration of dihydroxycholestanoic acid (DHCA) in the blood circulation is above the upper limit of normal. 2024-06-30T12:14:21Z human_phenotype HP:6000831 Increased circulating dihydroxycholestanoic acid concentration HP:6000831 The concentration of dihydroxycholestanoic acid (DHCA) in the blood circulation is above the upper limit of normal. PMID:26453805 Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. 2024-06-30T12:14:21Z human_phenotype HP:6000832 Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Reduced tissue phosphorylase kinase activity HP:6000832 Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation. 2024-06-30T12:14:21Z Hyperkalemia during attack human_phenotype HP:6000833 For instance, in hyperkalemic periodic paralysis, one may observe an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness. Hyperkalemia while symptomatic HP:6000833 Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation. PMID:20301669 The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-06-30T12:14:21Z human_phenotype HP:6000834 Elevated urinary gamma-glutamylcysteine level HP:6000834 The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:17397529 Growth of mycobacteria in a culture derived from cerebrospinal fluid (CSF). 2024-06-30T13:45:17Z HP:6000543 Positive CSF mycobacterium culture Positive mycobacterium CSF culture human_phenotype HP:6000835 Positive CSF mycobacterial culture HP:6000835 Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen. 2024-06-30T13:45:17Z human_phenotype HP:6000836 Positive respiratory tract nucleic acid pathogen test HP:6000836 Detection of SARS-CoV-2 coronavirus nucleic acid in the sputum or pharyngeal sample by a method such as polymerase chain reaction. 2024-06-30T13:45:17Z human_phenotype HP:6000837 Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test HP:6000837 Cryptosporidium antigen present in stool. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens. 2024-06-30T13:45:17Z HP:6000909 Positive stool Cryptosporidium antigen test human_phenotype HP:6000838 Positive fecal cryptosporidium antigen test HP:6000838 The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum. 2024-06-30T13:45:17Z Bell-clapper deformity human_phenotype HP:6000839 Horizontal position of testicle HP:6000839 The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum. PMID:22606621 Abnormal enlargement (swelling) that is restricted to a specific part of a limb. 2024-06-30T13:45:17Z human_phenotype HP:6000840 This term is meant to describe new-onset swelling. For instance, patients with Ewing sarcoma often present with local symptoms such as pain, stiffness, or swelling for a few weeks or months. Localized soft-tissue swelling on extremity HP:6000840 Any deviation from the normal height of the sclera, the white part of the eye that forms the tough, fibrous outer layer of the exterior of the eyeball. 2024-06-30T13:45:17Z human_phenotype HP:6000841 The sclera forms the outer layer of the ocular globe and serves to stabilize size and shape to the eye. Stability of the globe shape is of utmost importance for the optical system which heavily depends on constant distances between cornea, lens and retina. The thickness of the sclera is a major factor in providing a firm structure to the globe. Abnormal scleral thickness HP:6000841 Multiple beaded papules along the eyelid margins and inner canthus. 2024-06-30T13:45:17Z Moniliform blepharosis human_phenotype HP:6000842 See Figure 2 of PMID:26655007. Multiple eyelid beaded papules HP:6000842 Multiple beaded papules along the eyelid margins and inner canthus. PMID:26655007 A type of conjunctivitis that is not characterized by appreciable exudate, i.e., fluid, cells, or other substances that have escaped from blood vessels and have been deposited around the eyelids. 2024-06-30T13:45:17Z human_phenotype HP:6000843 Nonexudative conjunctivitis HP:6000843 Demonstration of a nematode (roundworm) in the retina, generally by an imaging procedure such as fundoscopy. 2024-06-30T13:45:17Z human_phenotype HP:6000844 Nematode in retina HP:6000844 Demonstration of a nematode (roundworm) in the retina, generally by an imaging procedure such as fundoscopy. PMID:2086470 A condition in which blood vessels adjacent to the eighth cranial nerve (vestibulocochlear nerve) such as the anterior inferior cerebellar artery abnormally contact or compress the vestibulocochlear nerve as it exits the brainstem or travels within the cerebellopontine angle. 2024-06-30T16:38:56Z Neurovascular compression syndrome of the vestibulocochlear nerve Vestibulocochlear nerve compression syndrome human_phenotype HP:6000845 CN VIII consists of 3 components: the cochlear nerve, the superior vestibular nerve, and the inferior vestibular nerve. If the NVC syndrome of CN VIII exists, symptoms specifically reflecting the nerve component affected should be manifested. If compression by a vascular loop is limited to the cochlear nerve alone, tinnitus or a hearing disturbance (or both) should occur, whereas if the compression is limited to the vestibular nerve, vertigo should occur, and if the cochlear nerve and the vestibular nerve are compressed, the patient should experience tinnitus and vertigo at the same time. Vascular compression of the eighth cranial nerve HP:6000845 A condition in which blood vessels adjacent to the eighth cranial nerve (vestibulocochlear nerve) such as the anterior inferior cerebellar artery abnormally contact or compress the vestibulocochlear nerve as it exits the brainstem or travels within the cerebellopontine angle. PMID:9452229 Multifocal intra- and extra-hepatic bile duct strictures alternating with normal caliber or slightly dilated segments, resembling beads on a string. 2024-06-30T16:38:56Z human_phenotype HP:6000846 This abnormality can be observed in primary sclerosing cholangitis and can be ascertained by ndoscopic retrograde cholangiopancreatography (ERCP) or MRCP (magnetic resonance cholangiopancreatography). Beaded bile ducts HP:6000846 Multifocal intra- and extra-hepatic bile duct strictures alternating with normal caliber or slightly dilated segments, resembling beads on a string. PMID:30600377 An abnormal enlargement or swelling localized in the heart. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-06-30T16:38:56Z human_phenotype HP:6000847 Cardiac mass HP:6000847 Abnormal increase in size of the superior olive, also known as the superior olivary complex. The superior olive is a collection of brainstem nuclei that is located in pons, functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system. 2024-06-30T16:38:56Z human_phenotype HP:6000848 Superior olive hypertrophy HP:6000848 Spinal extradural arachnoid cyst is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. 2024-06-30T16:38:56Z SEDAC human_phenotype HP:6000849 Spinal extradural arachnoid cyst HP:6000849 Spinal extradural arachnoid cyst is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. PMID:24278289 Localization to or predominance in the temporal cortex of the brain. 2024-06-30T16:38:56Z human_phenotype HP:6000850 Temporal cortex localization HP:6000850 Abnormal enhancement of CT or MIR contrast medium in the basilar meninges, that is, those located in the basal cisterns or spaces at the base of the brain, due to increased permeability of blood vessels in these areas. 2024-06-30T16:38:56Z human_phenotype HP:6000851 Basilar meningeal enhancement HP:6000851 Persistent and substantial increase in diameter diameter and length of the colon. 2024-06-30T16:38:56Z human_phenotype HP:6000852 In addition to Hirschspring disease, acute colonic pseudoobstruction, idiopathic megacolon, severe chronic constipation, hypothyroidism, intestinal motility disorders, and toxic Megacolon may present with this feature. Megacolon HP:6000852 A fluid-filled sac or cavity that develops due to fluid accumulation within the thyroid tissue. 2024-06-30T16:38:56Z human_phenotype HP:6000853 Thyroid cyst HP:6000853 The concentration of sulfate in the blood circulation is below the lower limit of normal. 2024-06-30T18:24:50Z human_phenotype HP:6000854 Decreased circulating sulfate concentration HP:6000854 The concentration of sulfate in the blood circulation is below the lower limit of normal. PMID:36719378 The inability to maintain a comfortable body temperature in a cold environment or cold temperatures. 2024-06-30T18:24:50Z Cold sensitivity human_phenotype HP:6000855 Cold intolerance HP:6000855 The inability to maintain a comfortable body temperature in a cold environment or cold temperatures. PMID:30724123 Applies to an abnormality that is situated in (or predominant in) the head and neck region. 2024-06-30T18:24:50Z human_phenotype HP:6000856 Head and neck distribution HP:6000856 Applies to an abnormality that is highly similar on the left and right sides of the body. 2024-06-30T18:24:50Z human_phenotype HP:6000857 Symmetric distribution HP:6000857 Applies to an abnormality that is situated in extensor surface of an extremity. 2024-06-30T18:24:50Z human_phenotype HP:6000858 For instance, in the upper extremity, this would refer to a lesion of the skin over the triceps as opposed to the biceps. Muscle extensor surface location HP:6000858 Presence of lipid-laden macrophages (foam cells) in the inner layer of the skin (dermis). 2024-06-30T18:24:50Z human_phenotype HP:6000859 Chronic inflammation of infectious and non-infectious origin is often associated with the presence of foam cells, lipid-laden macrophages that exhibit impaired immune function and can contribute to pathogenesis. Foam cells (or foamy macrophages) form when, due to dysregulated metabolism, lipids accumulate beyond the homeostatic capacity of macrophages. The lipids are stored as droplets that confer a foamy appearance to the macrophages. Dermal foam cells HP:6000859 Presence of lipid-laden macrophages (foam cells) in the inner layer of the skin (dermis). PMID:37333211 Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes. 2024-06-30T18:24:50Z human_phenotype HP:6000860 Diminished tissue very long-chain acyl-CoA dehydrogenase activity HP:6000860 Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes. PMID:20301763 Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. 2024-06-30T18:24:50Z human_phenotype HP:6000861 Diminished tissue glycogen branching enzyme activity HP:6000861 Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. PMID:26199317 A benign tumor of the parotid salivary gland. 2024-06-30T18:24:50Z human_phenotype HP:6000862 Pleomorphic adenoma (PA), also known as benign mixed tumor, is the most common salivary tumor, constituting up to two-thirds of all salivary gland neoplasms. Parotid adenoma HP:6000862 A benign tumor of the parotid salivary gland. PMID:26124628 An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension. 2024-07-01T09:06:35Z Abnormally high serum-ascites albumin gradient (SAAG) human_phenotype HP:6000863 Elevated serum-ascites albumin gradient (SAAG) HP:6000863 An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension. PMID:29201716 Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth. 2024-07-01T09:06:35Z human_phenotype HP:6000864 Transverse smile HP:6000864 Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth. PMID:25037087 An accessory phalanx of the fourth (ring) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint. 2024-07-01T09:06:35Z Hyperphalangy of fourth finger human_phenotype HP:6000865 Hyperphalangy of the 4th finger HP:6000865 Developmental delay of ossification of the distal epiphysis of the femur. 2024-07-01T09:06:35Z human_phenotype HP:6000866 The distal femoral epiphysis (DFE), is the first of the long bone epiphyses to ossify and appears before the proximal tibial epiphysis (PTE). Around birth, the DFE consists of a rounded or oval nucleus with pitting and osseous circumvolutions. These epiphyses are maturation indicators marking the different stages of progression of bone maturation. They appear in a constant and defined order, which makes the infracranial sequence of maturation useful for age estimation of immature individuals. Delayed distal femoral epiphyseal ossification HP:6000866 Developmental delay of ossification of an epiphysis of the tibia. 2024-07-01T09:06:35Z human_phenotype HP:6000867 Delayed tibial epiphyseal ossification HP:6000867 Developmental delay of ossification of an epiphysis of the tibia. PMID:24144387 PMID:9559711 Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a toe. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. 2024-07-01T09:06:35Z human_phenotype HP:6000868 Toe hyperphalangy HP:6000868 Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a toe. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. PMID:15032905 An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity. 2024-07-01T09:06:35Z Increased bone density of the ilium Sclerosis of iliac bone human_phenotype HP:6000869 Sclerotic ilium HP:6000869 An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity. PMID:22084176 The chevron sign refers to an inverted V-shape metaphyses. It is most commonly seen in the distal femur and tends to disappear with age. 2024-07-01T09:06:35Z human_phenotype HP:6000870 Metaphyseal chevron deformity HP:6000870 The chevron sign refers to an inverted V-shape metaphyses. It is most commonly seen in the distal femur and tends to disappear with age. PMID:25349664 PMID:25808063 Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate. 2024-07-01T09:06:35Z human_phenotype HP:6000871 Popcorn calcification HP:6000871 Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate. PMID:12432108 A developmental defect characterized by absence or underdevelopment of the calvaria. 2024-07-01T09:06:35Z human_phenotype HP:6000872 Aplasia/Hypoplasia of the calvaria HP:6000872 Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms. 2024-07-01T09:06:35Z human_phenotype HP:6000873 Bowdler spurs HP:6000873 Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms. PMID:15782022 Delayed maturation and calcification of the clavicle. 2024-07-01T09:06:35Z human_phenotype HP:6000874 Delayed ossification of the clavicle HP:6000874 Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal. 2024-07-01T09:06:35Z human_phenotype HP:6000875 Wide sacroiliac joint HP:6000875 The presence of autoantibodies in the serum that react against glutamate receptor delta2. 2024-07-01T09:06:35Z human_phenotype HP:6000876 Glutamate receptor delta2, a member of the glutamate receptor family, is predominantly expressed in cerebellar Purkinje cells and plays a crucial role in cerebellar functions. Anti-GluRdelta2 autoantibody has been detected in a patient with chronic cerebellitis. Anti-Glutamate Receptor delta2 antibody positivity HP:6000876 The presence of autoantibodies in the serum that react against glutamate receptor delta2. PMID:17049194 PMID:36696031 The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen. 2024-07-01T09:06:35Z Anti-neuronal nuclear antibody-type 3 positivity human_phenotype HP:6000877 Anti-dachshund family transcription factor 1 antibody positivity HP:6000877 The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen. PMID:35150165 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16). 2024-07-01T09:06:35Z Anti-KCTD16 human_phenotype HP:6000878 Anti-potassium channel tetramerization domain containing 16 antibody positivity HP:6000878 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16). PMID:31009048 The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8). 2024-07-01T09:06:35Z human_phenotype HP:6000879 Anti-regulator of G protein signaling 8 antibody positivity HP:6000879 The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8). PMID:33782191 The presence of autoantibodies in the serum that react against neurochondrin . 2024-07-01T09:06:35Z human_phenotype HP:6000880 Anti-neurochondrin antibody positivity HP:6000880 The presence of autoantibodies in the serum that react against neurochondrin . PMID:36437687 The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma). 2024-07-01T09:06:35Z human_phenotype HP:6000881 Anti-DCC netrin 1 receptor antibody positivity HP:6000881 The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma). PMID:28251919 The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction. 2024-07-01T09:06:35Z Anti-retinal CAR antigen antibody human_phenotype HP:6000882 Anti-recoverin antibody positivity HP:6000882 The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction. PMID:38054667 A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint. 2024-07-01T10:01:12Z human_phenotype HP:6000883 Propofol is commonly used in anaesthesia and in intensive care where its favourable pharmacokinetics and rapidly reversible sedation make it an ideal drug for short-term sedation. However, propofol has been associated with a number of serious adverse effects such as metabolic acidosis, cardiac asystole, myocardial failure, rhabdomyolysis, and death. Recent history of sedation by propofol infusion HP:6000883 A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint. PMID:17567345 Size (volume) of the head of the humerus above the upper limit of normal. 2024-07-01T10:01:12Z human_phenotype HP:6000884 Enlarged humeral head HP:6000884 Size (volume) of the head of the radius above the upper limit of normal. 2024-07-01T10:01:12Z human_phenotype HP:6000885 Enlarged radial head HP:6000885 Size (volume) of the head of the radius above the upper limit of normal. PMID:12624140 Size (volume) of the distal epiphysis of the tiba above the upper limit of normal. 2024-07-01T10:01:12Z Large distal tibial epiphysis human_phenotype HP:6000886 Enlarged distal tibial epiphysis HP:6000886 Size (volume) of the distal epiphysis of the tiba above the upper limit of normal. PMID:12624140 The concentration of bismuth in the blood is above the upper limit of a guidance value for total blood bismuth concentrations that implies possible injurious effects. 2024-07-01T10:01:12Z human_phenotype HP:6000887 Elevated blood bismuth concentration HP:6000887 Detection of a level of bismuth in the urine high enough to raise the suspicion of bismuth toxicity, usually greater than 20microgram per deciliter. 2024-07-01T10:01:12Z human_phenotype HP:6000888 Elevated urine bismuth level HP:6000888 Distal radioulnar joint dislocation is more commonly displaced dorsally (i.e. the distal ulna is dorsally dislocated with respect to the distal radius), but can be volarly displaced. 2024-07-01T10:01:12Z human_phenotype HP:6000889 Distal radioulnar joint dislocation HP:6000889 Distal radioulnar joint dislocation is more commonly displaced dorsally (i.e. the distal ulna is dorsally dislocated with respect to the distal radius), but can be volarly displaced. PMID:23162140 he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus. 2024-07-01T10:01:12Z human_phenotype HP:6000890 Proximal radioulnar joint dislocation HP:6000890 he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus. PMID:20660242 Absence of one or more interphalangeal creases of a toe (i.e., of the transverse lines in the skin between the phalanges of the toes). 2024-07-01T10:01:12Z human_phenotype HP:6000891 Absent toe phalanx flexion crease HP:6000891 Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages. 2024-07-01T13:30:04Z human_phenotype HP:6000892 White matter globoid cells HP:6000892 Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages. PMID:27638591 Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease. 2024-07-01T13:30:04Z human_phenotype HP:6000893 Gaucher cells HP:6000893 Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease. PMID:28218669 A benign, well circumscribed neoplasm that arises from the breast. 2024-07-01T13:30:04Z human_phenotype HP:6000894 Breast adenoma HP:6000894 A type of breast adenoma composed of benign apocrine cells. 2024-07-01T13:30:04Z Apocrine adenoma of the breast human_phenotype HP:6000895 Breast apocrine adenoma HP:6000895 A type of breast adenoma composed of benign apocrine cells. PMID:18491794 A type of benign cyst or cysts in breast tissue that are typically mobile within the glandular breast tissue, chest wall, and skin and are rubber-like in texture. The main histological features are an extracellular matrix of collagen, peri canalicular patterns of stromal cells with the presence of florid epithelial hyperplasia. 2024-07-01T13:30:04Z human_phenotype HP:6000896 Fibrocystic breast lesion HP:6000896 A type of benign cyst or cysts in breast tissue that are typically mobile within the glandular breast tissue, chest wall, and skin and are rubber-like in texture. The main histological features are an extracellular matrix of collagen, peri canalicular patterns of stromal cells with the presence of florid epithelial hyperplasia. PMID:31869073 A type of neuroendocrine tumor that originates in the pancreas and secretes excessive amounts of vasoactive intestinal peptide (VIP). 2024-07-01T13:30:04Z Vasoactive intestinal peptide-secreting tumor of the pancreas human_phenotype HP:6000897 Secretory diarrhea is the most characteristic symptom of a VIPoma. In severe cases, patients can produce up to 6-8L of watery stools per day. Pancreatic VIPoma HP:6000897 A type of neuroendocrine tumor that originates in the pancreas and secretes excessive amounts of vasoactive intestinal peptide (VIP). PMID:25905195 Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia. 2024-07-01T13:30:04Z human_phenotype HP:6000898 Gastric carcinoid tumor HP:6000898 Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia. PMID:21603501 Identification of scabies by means of an examination of the skin such as microscopic identification of scabies mites, eggs, or feces from obtained scales by skin scraping. 2024-07-03T09:28:40Z human_phenotype HP:6000899 Human scabies is a neglected tropical disease of the skin that affects all age groups. It is a highly contagious skin infection that presents as generalized pruritus and is caused by the Sarcoptes scabiei (S scabiei) var. hominis mite, which is a constrained ectoparasite that lives in the epidermis. Classic scabies is expressed by erythematous papular eruptions, burrows, and pruritus. Positive skin scabies test HP:6000899 Identification of scabies by means of an examination of the skin such as microscopic identification of scabies mites, eggs, or feces from obtained scales by skin scraping. PMID:37233429 Detection of nucleic acid of the mumps virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR. 2024-07-03T09:28:40Z human_phenotype HP:6000900 Positive mumps virus PCR test in the blood circulation HP:6000900 Detection of Mycobacterium tuberculosis in the bloodstream by means of detection of interferon-gamma secreted by T cells in response to specific antigens from Mycobacterium tuberculosis, commonly 6kD early secretory antigenic target-6 and 10kD culture filtrate protein-10. 2024-07-03T09:28:40Z Positive T-SPOT-tuberculosis test in the bloodstream human_phenotype HP:6000901 Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay HP:6000901 Detection of Mycobacterium tuberculosis in the bloodstream by means of detection of interferon-gamma secreted by T cells in response to specific antigens from Mycobacterium tuberculosis, commonly 6kD early secretory antigenic target-6 and 10kD culture filtrate protein-10. PMID:28798488 Growth of Neisseria gonorrhoeae in a culture derived from circulating blood. 2024-07-03T09:28:40Z human_phenotype HP:6000902 Positive blood Neisseria gonorrhoeae culture HP:6000902 The presence of antibodies in the blood circulation that react against a component of Mumps virus. 2024-07-03T09:28:40Z human_phenotype HP:6000903 Anti-mumps antibody positivity HP:6000903 Growth of Vibrio cholerae in a culture derived from a feces sample. 2024-07-03T09:28:40Z Positive Vibrio cholerae fecal culture human_phenotype HP:6000904 Positive Vibrio cholerae stool culture HP:6000904 Detection of mucocutaneous varicella zoster virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by swab from skin or mucous membranes. 2024-07-03T09:28:40Z human_phenotype HP:6000905 Positive cutaneous varicella zoster virus nucleic acid test HP:6000905 Growth of Cryptococcus in a culture derived from a blood sample. 2024-07-03T09:28:40Z human_phenotype HP:6000906 Positive bloodstream cryptococcus culture HP:6000906 Detection of nucleic acid of Borrelia miyamotoi in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-07-03T09:28:40Z human_phenotype HP:6000907 Positive bloodstream Borrelia miyamotoi nucleic acid test HP:6000907 Detection of nucleic acid of Borrelia miyamotoi in the blood circulation by a method such as polymerase chain reaction (PCR). PMID:29664394 Detection of nucleic acid of Coxsackievirus in the blood circulation by a method such as polymerase chain reaction (PCR). 2024-07-03T09:28:40Z human_phenotype HP:6000908 Positive bloodstream Coxsackievirus nucleic acid pathogen test HP:6000908 HP:6000838 2024-07-03T09:28:40Z human_phenotype HP:6000909 obsolete Positive stool Cryptosporidium antigen test true HP:6000909 Concentration or activity of alpha-L-iduronidase (IDUA; EC 3.2.1.76) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes. 2024-07-03T09:28:40Z human_phenotype HP:6000910 Diminished tissue alpha-L-iduronidase activity HP:6000910 Concentration or activity of alpha-L-iduronidase (IDUA; EC 3.2.1.76) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes. PMID:818611 Activity of neuraminidase (EC 3.2.1.18)in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. Neuraminidase is also known as lysosomal sialidase. 2024-07-03T09:28:40Z human_phenotype HP:6000911 Reduced tissue neuraminidase activity HP:6000911 Activity of neuraminidase (EC 3.2.1.18)in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. Neuraminidase is also known as lysosomal sialidase. PMID:610423 Nummular keratitis consists of multiple scattered small round anterior corneal superficial stromal infiltrates. 2024-07-05T10:44:08Z human_phenotype HP:6000912 Nummular means coin-shaped. Nummular keratitis HP:6000912 Nummular keratitis consists of multiple scattered small round anterior corneal superficial stromal infiltrates. PMID:34816054 Bulging in the area of the lower abdomen, just above the thigh and near the groin. 2024-07-05T10:44:08Z human_phenotype HP:6000913 Swelling of inguinal region HP:6000913 Applies to an abnormality whose distribution and appearance are solitary and localized to a part of the skin, a tissue or an organ that differs from the surrounding healthy tissue. 2024-07-05T10:44:08Z human_phenotype HP:6000914 Single lesion HP:6000914 A specific disorder of spelling. A score on a standardized spelling test is at least two standard errors of prediction below the level expected on the basis of the child's chronological age and general intelligence in the context of scores on reading accuracy and comprehension and on arithmetic that are within the normal range (within two standard deviations from the mean). 2024-07-05T10:44:08Z human_phenotype HP:6000915 Dysorthography HP:6000915 A specific disorder of spelling. A score on a standardized spelling test is at least two standard errors of prediction below the level expected on the basis of the child's chronological age and general intelligence in the context of scores on reading accuracy and comprehension and on arithmetic that are within the normal range (within two standard deviations from the mean). PMID:21348173 A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon. 2024-07-05T10:44:08Z human_phenotype HP:6000916 Echogenic fetal colon HP:6000916 A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon. PMID:17202504 Accumulation of excess fluid in the bone marrow. 2024-07-05T10:44:08Z human_phenotype HP:6000917 This condition is typically detected using magnetic resonance imaging, where it appears as an area of increased signal intensity on fluid-sensitive sequences. Bone marrow edema HP:6000917 Accumulation of excess fluid in the bone marrow. PMID:35522786 A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. 2024-07-05T10:44:08Z Transverse terminal upper limb reduction human_phenotype HP:6000918 Transverse terminal upper limb defect HP:6000918 A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. PMID:34263545 After inflating a blood pressure cuff from 10 mm Hg to 20 mm Hg over the patient's systolic blood pressure, the Trousseau sign is considered positive if carpal spasm develops, with flexion of the thumb and adduction of the finger within 3 minutes. However, this can be painful, so the time should be noted, and the cuff should be deflated once the test is positive. 2024-07-05T10:44:08Z Carpal spasm human_phenotype HP:6000919 Trousseau sign HP:6000919 After inflating a blood pressure cuff from 10 mm Hg to 20 mm Hg over the patient's systolic blood pressure, the Trousseau sign is considered positive if carpal spasm develops, with flexion of the thumb and adduction of the finger within 3 minutes. However, this can be painful, so the time should be noted, and the cuff should be deflated once the test is positive. PMID:28722928 Congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These malformations can lead to cranial nerve compression, vertebral artery compression, and obstructive hydrocephalus. 2024-07-05T10:44:08Z Tight craniocervical junction Tight craniovertebral junction human_phenotype HP:6000920 Craniocervical junction constriction HP:6000920 Congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These malformations can lead to cranial nerve compression, vertebral artery compression, and obstructive hydrocephalus. PMID:1566672 Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage. 2024-07-05T10:44:08Z Fibular rotation human_phenotype HP:6000921 Fibular torsion HP:6000921 Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage. PMID:24796832 PMID:9409794 Any abnormal process of ossification of the phalangeal bones, which normally are ossified from the body and proximal extremity. Ossification of the body commences during the eighth week of fetal development. Ossification of the proximal extremity commences in the bones between the third and fourth years. 2024-07-05T10:44:08Z human_phenotype HP:6000922 Abnormal finger phalanx ossification HP:6000922 The monospot test is a latex agglutination test which utilizes equine erythrocytes as the primary substrate and tests for specific heterophile antibodies produced by the human immune system in response to EBV infection. When these specific antibodies are present in the patient's blood specimen, exposure to equine erythrocytes will lead to clumping of the sample, thus signaling a positive agglutination reaction. 2024-07-05T10:44:08Z human_phenotype HP:6000923 Positive bloodstream EBV monospot test HP:6000923 The monospot test is a latex agglutination test which utilizes equine erythrocytes as the primary substrate and tests for specific heterophile antibodies produced by the human immune system in response to EBV infection. When these specific antibodies are present in the patient's blood specimen, exposure to equine erythrocytes will lead to clumping of the sample, thus signaling a positive agglutination reaction. PMID:30969561 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Toxoplasma gondii. 2024-07-05T10:44:08Z human_phenotype HP:6000924 Positive CSF Toxoplasma gondii antibody positivity HP:6000924 A positive result of the tuberculin skin test suggesting previous expouse or infection with mycobacterium teberculosis. A standard dose of five tuberculin units (TU) (0.1ml) is injected intradermally (into the skin) and read 48 to 72 h later. A person who has been exposed to the bacteria is expected to mount an immune response in the skin containing the bacterial proteins. The volar aspect of the forearm is the preferred site of test. The basis of reading is the presence or absence of induration, which may be determined by inspection (from a side view against the light as well as by direct light) and by palpation. For standardization, the diameter of induration should be measured transversely to the long axis of the forearm and recorded in millimeters. 2024-07-05T10:44:08Z Positive Mantoux tuberculosis test Tuberculosis skin test positive human_phenotype HP:6000925 The tuberculin most widely used is purified protein derivative (PPD), which is derived from cultures of M. tuberculosis. Positive tuberculin skin test HP:6000925 The presence of antibodies in the blood circulation that react against a component of Treponema pallidum. 2024-07-05T10:44:08Z Positive Fluorescent treponemal antibody absorption test Positive Treponema pallidum hemoagglutination assay Treponemal antibody titer high in blood human_phenotype HP:6000926 Anti-Treponema pallidum antibody positivity HP:6000926 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Borrelia burgdorferi. 2024-07-05T10:44:08Z human_phenotype HP:6000927 Positive CSF Borrelia burgdorferi antibody positivity HP:6000927 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of JC-virus (also known as JC-polyomavirus and John Cunningham virus). 2024-07-05T10:44:08Z Positive CSF JC-polyomavirus antibody positivity human_phenotype HP:6000928 Positive CSF JC-virus antibody positivity HP:6000928 The presence of antibodies in the blood circulation that act against the rabies virus function by blocking the binding of the glycoprotein to a receptor or preventing the membrane fusion process. 2024-07-05T10:44:08Z human_phenotype HP:6000929 Neutralizing anti-rabies virus antibody positivity HP:6000929 The presence of antibodies in the blood circulation that act against the rabies virus function by blocking the binding of the glycoprotein to a receptor or preventing the membrane fusion process. PMID:38075404 An abnormal reduction in the amount of radioactive tracer uptake upon hepatobiliary scintigraphy. 2024-07-06T11:45:23Z human_phenotype HP:6000930 A normal HBS shows rapid clearance of the radio-tracer from the blood pool. Prompt and uniform hepatic uptake is reached within 5 min, functional visualization of the gall bladder is seen as early as 10 min and bowel activity by 30 to 40 minutes. The presence of tracer in the bowel confirm patency of biliary channels and excludes biliary atresia. Impaired hepatobiliary scintigraphy tracer uptake HP:6000930 An abnormal reduction in the amount of radioactive tracer uptake upon hepatobiliary scintigraphy. PMID:15347715 A pulmonary nodule with calcium deposits. On radiography, these nodules appear dense. 2024-07-06T11:45:23Z human_phenotype HP:6000931 Calcification in a pulmonary nodule (PN) on imaging indicates a high probability that the lesion is benign. But not all calcified PN are benign and the differential considerations include a primary central lung carcinoid, metastasis and a primary bronchogenic carcinoma. Calcified pulmonary nodule HP:6000931 A pulmonary nodule with calcium deposits. On radiography, these nodules appear dense. PMID:20582171 Applied to a sign or symptom that is more severe following a meal. 2024-07-06T11:45:23Z human_phenotype HP:6000932 Postprandial exacerbation HP:6000932 The appearance of new skin lesions on previously unaffected skin secondary to trauma. This phenomenon is also termed the isomorphic (from Greek, equal shape) response, given the fact that the new lesions that appear are clinically and histologically identical to the patient's underlying cutaneous disease. 2024-07-06T11:45:23Z human_phenotype HP:6000933 The Koebner phenomenon is typically associated with preexisting skin disease. Clinical entities that commonly display the Koebner phenomenon include psoriasis, vitiligo, lichen planus. The incidence of Koebnerization ranges broadly within these entities; estimates of the prevalence of the Koebner phenomenon are approximately 11 to 75% in psoriasis and 21 to 62% in vitiligo. Koebner Phenomenon HP:6000933 The appearance of new skin lesions on previously unaffected skin secondary to trauma. This phenomenon is also termed the isomorphic (from Greek, equal shape) response, given the fact that the new lesions that appear are clinically and histologically identical to the patient's underlying cutaneous disease. PMID:31971748 Glenoid dysplasia is a developmental anomaly of the scapula that is characterized by a bony deficiency of the posteroinferior glenoid and the adjacent scapular neck. 2024-07-06T11:45:23Z Glenohumeral dysplasia human_phenotype HP:6000934 Glenoid dysplasia may occur as a primary isolated condition or in association with various syndromes. It is thought to be related to defective ossification of the inferior glenoid precartilage. Radiographs typically demonstrate bilateral, symmetric dysplasia of the scapular neck with a range of associated bony changes. Glenoid dysplasia has been associated with instability and premature glenohumeral arthritis, although the clinical presentation is highly variable. Symptoms are delayed or mitigated as a result of compensatory glenoid labral hyperplasia. Glenoid dysplasia HP:6000934 Glenoid dysplasia is a developmental anomaly of the scapula that is characterized by a bony deficiency of the posteroinferior glenoid and the adjacent scapular neck. PMID:27055054 A past medical history of recently having retracted the penile foreskin for a prolonged period of time. Paraphimosis commonly occurs iatrogenically, when the foreskin is retracted for cleaning, placement of a urinary catheter, a procedure such as a cystoscopy, or for penile examination. Failure to return the retracted foreskin over the glans promptly after the initial retraction can lead to paraphimosis. 2024-07-06T11:45:23Z human_phenotype HP:6000935 This can be a risk factor for paraphimosis, a urologic emergency that occurs in uncircumcised males when the foreskin becomes trapped behind the corona of the glans penis. Prolonged retraction of penile foreskin HP:6000935 A past medical history of recently having retracted the penile foreskin for a prolonged period of time. Paraphimosis commonly occurs iatrogenically, when the foreskin is retracted for cleaning, placement of a urinary catheter, a procedure such as a cystoscopy, or for penile examination. Failure to return the retracted foreskin over the glans promptly after the initial retraction can lead to paraphimosis. PMID:29083645 Abnormal thickening of the cortex of the clavicle. 2024-07-06T11:45:23Z Broad cortex of clavicle Cortical thickening of the clavicle Thickened cortices of clavicle human_phenotype HP:6000936 Thickened cortex of the clavicle HP:6000936 Abnormal thickening of the cortex of the clavicle. PMID:24389367 PMID:24390061 Abnormal thickening of the cortex of the mandible. 2024-07-06T11:45:23Z Broad cortex of mandible Cortical thickening of the mandible Thickened cortices of mandible human_phenotype HP:6000937 Thickened cortex of the mandible HP:6000937 Abnormal thickening of the cortex of the mandible. PMID:24389367 PMID:24390061 Minor hypoplasia (developmental undergrowth) of the thumb, whereby all musculoskeletal and neurovascular components of the digit are present, just small in size (Blauth classification). 2024-07-06T11:45:23Z human_phenotype HP:6000938 Thumb hypoplasia grade 1 HP:6000938 Minor hypoplasia (developmental undergrowth) of the thumb, whereby all musculoskeletal and neurovascular components of the digit are present, just small in size (Blauth classification). PMID:24362256 A type of developmental undergrowth of the thumb, whereby all of the osseous structures are present (may be small), and there is metacarpophalangeal joint ulnar collateral ligament instability and thenar hypoplasia. 2024-07-06T11:45:23Z Hypoplasia of the thumb grade 2 human_phenotype HP:6000939 Thumb hypoplasia grade 2 HP:6000939 A type of developmental undergrowth of the thumb, whereby all of the osseous structures are present (may be small), and there is metacarpophalangeal joint ulnar collateral ligament instability and thenar hypoplasia. PMID:24362256 A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies with the carpometacarpal (CMC) joint intact. Absence of active motion at the metacarpophalangeal (MCP) or interphalangeal (IP) joint. 2024-07-06T11:45:23Z Hypoplasia of the thumb grade IIIA human_phenotype HP:6000940 Thumb hypoplasia grade 3A HP:6000940 A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies with the carpometacarpal (CMC) joint intact. Absence of active motion at the metacarpophalangeal (MCP) or interphalangeal (IP) joint. PMID:24362256 A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies characterized by basal metacarpal aplasia with deficient carpometacarpal (CMC) joint, and absence of metacarpophalangeal (MCP) or interphalangeal (IP) joint. 2024-07-06T11:45:23Z Hypoplasia of the thumb grade IIIB human_phenotype HP:6000941 Thumb hypoplasia grade 3B HP:6000941 A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies characterized by basal metacarpal aplasia with deficient carpometacarpal (CMC) joint, and absence of metacarpophalangeal (MCP) or interphalangeal (IP) joint. PMID:24362256 A type of developmental undergrowth of the thumb characterized by attachment to the hand only by the skin and digital neurovascular structures. 2024-07-06T11:45:23Z Floating thumb Hypoplasia of the thumb grade IV human_phenotype HP:6000942 Thumb hypoplasia grade 4 HP:6000942 A type of developmental undergrowth of the thumb characterized by attachment to the hand only by the skin and digital neurovascular structures. PMID:24362256 Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology. 2024-07-06T11:45:23Z Femoral slcerotic foci Sclerotic foci of the femur human_phenotype HP:6000943 Femoral osteopoikilosis HP:6000943 Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology. PMID:30430046 Pain or tenderness in the region of the carotid artery. 2024-07-06T11:45:23Z human_phenotype HP:6000944 Fay Syndrome is characterized by carotidynia and manifests as an atypical facial neuralgia characterized by an unusual neck pain extending towards the head and associated with carotid artery tenderness. Diagnostic criteria include neck tenderness, elevated carotid pulse without anatomical abnormalities, and neck distension. Carotidynia HP:6000944 Pain or tenderness in the region of the carotid artery. PMID:32809676 PMID:38522944 A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left arms. 2024-07-06T11:45:23Z human_phenotype HP:6000945 Asymmetric blood pressure between arms HP:6000945 A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left arms. PMID:36351705 PMID:37525862 A congenital anomaly that appears as an amputation at different levels of the leg, e.g. femur, foreleg, ankle or toe. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. 2024-07-06T11:45:23Z human_phenotype HP:6000946 Transverse terminal lower limb defect HP:6000946 A congenital anomaly that appears as an amputation at different levels of the leg, e.g. femur, foreleg, ankle or toe. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment. PMID:34263545 A developmental defect leading to a transverse deficiency with absence of the lower leg (eg tibia and fibula), ankle and foot. 2024-07-06T11:45:23Z human_phenotype HP:6000947 Hemimelia of lower leg HP:6000947 A developmental defect leading to a transverse deficiency with absence of the lower leg (eg tibia and fibula), ankle and foot. PMID:26172360 A developmental defect leading to a transverse deficiency with absence of the forearm (eg ulna and radius), wrist and hand. 2024-07-06T11:45:23Z human_phenotype HP:6000948 Hemimelia of forearm HP:6000948 A developmental defect leading to a transverse deficiency with absence of the forearm (eg ulna and radius), wrist and hand. PMID:32954639 History of having been treateed with a sodium glucose transport inhibitors such as dapagliflozin, empagliflozin, canagliflozin, sglt-i, SGLT2, bexagliflozin, ertugliflozin, sotagliflozin, jardiance, invokana, forxiga, brenzavvy, steglatro, inpefa. 2024-07-06T11:45:23Z SGLT2i exposure human_phenotype HP:6000949 May be a risk factor for SGLT-2i induced diabetic ketoacidosis. Sodium glucose transport inhibitor exposure HP:6000949 A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope. 2024-07-06T11:45:23Z human_phenotype HP:6000950 Breath-holding spell HP:6000950 A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope. PMID:1736640 The presence of a splayed (i.e.,flared) metaphyseal segment of the proximal tibia. 2024-07-06T11:45:23Z human_phenotype HP:6000951 Flared proximal tibial metaphysis HP:6000951 Delayed maturation and calcification of any of the toe phalanges. 2024-07-06T11:45:23Z human_phenotype HP:6000952 Delayed toe phalanx ossification HP:6000952 Delayed maturation and calcification of any of the toe phalanges. PMID:23401428 PMID:33364240 A history of ingestion of a relatively high amount of foods containing sorbitol. 2024-07-07T09:42:28Z human_phenotype HP:6000953 Sorbitol ingestion HP:6000953 Growth of bacteria in a culture dervied from ascites fluid. 2024-07-07T09:42:28Z human_phenotype HP:6000954 Positive peritoneal fluid bacterial culture HP:6000954 Accumulation of cystine crsytals in the eye. Patients present with crystal accumulation affecting the cornea and conjunctiva, but crystals can also be deposited in the iris, ciliary body, choroid and retinal pigment epithelium (RPE), and lens capsule. Corneal crystal deposition starts in infancy in the anterior periphery of the cornea, and progresses centrally and posteriorly. The crystals, which have a fine, uniform needle-shaped structure, are diffusely distributed within the corneal tissues. 2024-07-07T09:42:28Z human_phenotype HP:6000955 Ocular cystine crystal deposition HP:6000955 Accumulation of cystine crsytals in the eye. Patients present with crystal accumulation affecting the cornea and conjunctiva, but crystals can also be deposited in the iris, ciliary body, choroid and retinal pigment epithelium (RPE), and lens capsule. Corneal crystal deposition starts in infancy in the anterior periphery of the cornea, and progresses centrally and posteriorly. The crystals, which have a fine, uniform needle-shaped structure, are diffusely distributed within the corneal tissues. PMID:30242621 A manifestation of abnormal wound healing in which there is formation of excessive granulation tissue, with the granulation tissue rising above the level of surrounding skin and creating a raised, reddish, moist, and bumpy surface. 2024-07-07T09:42:28Z Hypergranulating wound Overgranulation human_phenotype HP:6000956 Exuberant granulation tissue HP:6000956 A manifestation of abnormal wound healing in which there is formation of excessive granulation tissue, with the granulation tissue rising above the level of surrounding skin and creating a raised, reddish, moist, and bumpy surface. PMID:28492007 A small (less than 5 mm in diameter), elevated, circumscribed, solid, palpable mass located in thte mucosa of the oral cavity. 2024-07-07T09:42:28Z human_phenotype HP:6000957 Oral mucosal papule HP:6000957 Abnormally increased degree of goose bump formation, that is, of involuntary formation of bumps on a person's skin at the base of body hairs. 2024-07-07T09:42:28Z Excessive cutis anserina Excessive goose bumps human_phenotype HP:6000958 Excessive piloerection can be a feature of opioid withdrawal. Excessive piloerection HP:6000958 Abnormally increased degree of goose bump formation, that is, of involuntary formation of bumps on a person's skin at the base of body hairs. PMID:30252268 A palpable swelling in the scalp caused by an increase in interstitial fluid volume (excess fluid). 2024-07-07T09:42:28Z human_phenotype HP:6000959 Scalp edema HP:6000959 A slightly raised and often reddish serpentine or curvilinear path in the skin. 2024-07-07T09:42:28Z human_phenotype HP:6000960 Serpiginous refers to the wavy path of the burrows that is said to resemble the tracks of a snake. These lesions are characteristic of scabies and some other infections. Serpiginous burrow HP:6000960 A slightly raised and often reddish serpentine or curvilinear path in the skin. PMID:34615594 Detection of rabies nucleic acid in brain tissue by a method such as polymerase chain reaction. 2024-07-07T09:42:28Z human_phenotype HP:6000961 Positive brain-tissue rabies nucleic acid test HP:6000961 Detection of Bordetella pertussis PCR nucleic acid in in nasopharyngeal secretions by a method such as polymerase chain reaction. 2024-07-07T09:42:28Z human_phenotype HP:6000962 Positive respiratory tract Bordetella pertussis nucleic acid test HP:6000962 Demonstration of acid-fast bacilli by microscopic examination of wound tissue. Acid fastness is a physical property that gives a bacterium the ability to resist decolorization by acids during staining procedures. 2024-07-07T09:42:28Z human_phenotype HP:6000963 Bacteria displaying acid fastness include: Mycobacterium leprae, M. tuberculosis, M. smegmatis, M. Avium complex, M. kansasii, Nocardia brasiliensis, N. cyriacigeorgica, N. farcinica, and N. nova. Demonstration of acid-fast bacilli in wound tissue HP:6000963 Demonstration of acid-fast bacilli by microscopic examination of wound tissue. Acid fastness is a physical property that gives a bacterium the ability to resist decolorization by acids during staining procedures. PMID:30725806 Identification of encapsulated budding yeasts in smears of body fluids, secretions, exudates, or other specimens. 2024-07-07T09:42:28Z human_phenotype HP:6000964 In fixed-tissue specimens, encapsulated yeasts may also be identified and confirmed as cryptococci by positive mucicarmine or Masson-Fontana staining. This finding may suggest a diagnosis of cryptococcosis. Positive tissue encapsulated budding yeast test HP:6000964 Growth of coccidioidomycosis in a culture derived from skin or an organ. 2024-07-07T09:42:28Z human_phenotype HP:6000965 Positive tissue coccidioidomycosis culture HP:6000965 Concentration or activity of dihydropteridine reductase (EC 1.6.99.7) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and erythrocytes. 2024-07-07T09:42:28Z human_phenotype HP:6000966 Diminished tissue dihydropteridine reductase activity HP:6000966 Concentration or activity of dihydropteridine reductase (EC 1.6.99.7) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and erythrocytes. PMID:7627180 The concentration of transcobalamin-1 in the blood circulation is below the lower limit of normal. 2024-07-07T12:56:35Z Decreased circulating R vitamin B12 binder protein concentration Decreased circulating cobalophilin concentration Decreased circulating haptocorrin concentration Decreased circulating transcobalamin-1 concentration Decreased transcobalamin-1 concentration Decreased transcobalamin-1 level Decreased transcobalamin-1 level in blood Reduced transcobalamin-1 concentration Reduced transcobalamin-1 level Reduced transcobalamin-1 level in blood human_phenotype HP:6000967 Decreased circulating transcobalamin-1 concentration HP:6000967 The concentration of cationic trypsinogen in the blood circulation is below the lower limit of normal. 2024-07-07T12:56:35Z Decreased circulating cationic trypsinogen concentration Decreased serine protease 1 concentration Decreased serine protease 1 level Decreased serine protease 1 level in blood Reduced serine protease 1 concentration Reduced serine protease 1 level Reduced serine protease 1 level in blood human_phenotype HP:6000968 Cationic trypsinogen is one of the several isoforms of trypsinogen. Serum cationic trypsinogen when low, is known to be associated with reduced pancreatic exocrine function in a number of disorders, including Shwachman's syndrome and type 1 diabetes mellitus. Decreased circulating cationic trypsinogen concentration HP:6000968 The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal. 2024-07-07T12:56:35Z human_phenotype HP:6000969 Diminished circulating hyaluronidase activity HP:6000969 The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal. PMID:8793927 Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts. 2024-07-07T12:56:35Z human_phenotype HP:6000970 Diminished sulfotransferase activity in cultured fibroblasts HP:6000970 Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts. PMID:18513679 Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) above the upper limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase. 2024-07-07T12:56:35Z human_phenotype HP:6000971 Elevated tissue alpha-N-acetylglucosaminidase activity HP:6000971 Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) above the upper limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase. PMID:30046013 Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) outside of the limits of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase. 2024-07-07T12:56:35Z human_phenotype HP:6000972 Abnormal tissue alpha-N-acetylglucosaminidase activity HP:6000972 The concentration of trihydroxycholestanoic acid in the blood circulation is above the upper limit of normal. 2024-07-07T12:56:35Z Elevated circulating THCA concentration human_phenotype HP:6000973 Elevated circulating trihydroxycholestanoic acid concentration HP:6000973 The concentration of glyoxylic acid in the blood circulation is above the upper limit of normal. 2024-07-07T12:56:35Z human_phenotype HP:6000974 Elevated circulating glyoxylic acid concentration HP:6000974 Concentration of sepiapterin in the cerebrospinal fluid (CSF) above the upper limit of normal. 2024-07-07T12:56:35Z human_phenotype HP:6000975 Elevated CSF sepiapterin concentration HP:6000975 Concentration of sepiapterin in the cerebrospinal fluid (CSF) above the upper limit of normal. PMID:18502672 Nuclear or cytoplasmic aggregates of stainable substances within hepatocytes. 2024-07-07T12:56:35Z human_phenotype HP:6000976 Intrahepatic inclusion bodies HP:6000976 Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. 2024-07-07T12:56:35Z human_phenotype HP:6000977 Muscle vacuoles HP:6000977 Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, non-rimmed vacuoles lack the prominent dark border (rim) seen in rimmed vacuoles. 2024-07-07T12:56:35Z human_phenotype HP:6000978 Nonrimmed muscle vacuoles HP:6000978 Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal. 2024-07-07T12:56:35Z human_phenotype HP:6000979 Reduced hepatic glycogen phosphorylase activity HP:6000979 Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the bone marrow. 2024-07-07T12:56:35Z human_phenotype HP:6000980 Bone marrow hemophagocytosis HP:6000980 Splenic inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells. 2024-07-07T12:56:35Z human_phenotype HP:6000981 Splenic granulomatosis HP:6000981 Loss of erection at the time point of pain or other symptom onset. 2024-07-07T17:11:14Z human_phenotype HP:6000982 Immediate detumescence of penis at time of symptom onset HP:6000982 History of having received a surgical replacement of the aortic valve. 2024-07-07T17:11:14Z human_phenotype HP:6000983 History of aortic valve replacement HP:6000983 History of having received a surgical replacement of the aortic valve. PMID:31354937 An ST-segment elevation of at least 2 mm in at least one right precordial lead (V1 to V3), followed by an r'-wave and a concave or straight ST segment. The descending ST segment crosses the isoelectric line and is followed by a negative and symmetric T-wave. 2024-07-07T17:11:14Z human_phenotype HP:6000984 This finding is highly suggestive of Brugada syndrome. Coved type ST segment elevation HP:6000984 An ST-segment elevation of at least 2 mm in at least one right precordial lead (V1 to V3), followed by an r'-wave and a concave or straight ST segment. The descending ST segment crosses the isoelectric line and is followed by a negative and symmetric T-wave. PMID:30139433 An ST-segment elevation of at least 0.5 mm (generally at least 2 mm in V2) in at least one right precordial lead (V1 to V3), followed by a convex ST. The r'-wave may or may not overlap the J point, but it has a slow downward slope. The ST segment is followed by a positive T-wave in V2 and is of variable morphology in V1. 2024-07-07T17:11:14Z human_phenotype HP:6000985 ECG anomaly is only suggestive of Brugada syndrome. Saddle-back type ST segment elevation HP:6000985 An ST-segment elevation of at least 0.5 mm (generally at least 2 mm in V2) in at least one right precordial lead (V1 to V3), followed by a convex ST. The r'-wave may or may not overlap the J point, but it has a slow downward slope. The ST segment is followed by a positive T-wave in V2 and is of variable morphology in V1. PMID:30139433 A blood concentration of ethanol that is consistent with alcohol intoxication, generally assumed to be 0.0800 g/dL or higher. 2024-07-07T17:11:14Z human_phenotype HP:6000986 Substantially elevated circulating ethanol concentration HP:6000986 A blood concentration of ethanol that is consistent with alcohol intoxication, generally assumed to be 0.0800 g/dL or higher. PMID:33209539 Abnormal twisting or winding of the stomach. 2024-07-07T17:11:14Z human_phenotype HP:6000987 This feature can be seen with gastric volvulus and cam imply that it is difficult to reach the pylorus with gastric endoscopy. Tortuous appearance of the stomach HP:6000987 A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss. 2024-07-07T21:05:07Z human_phenotype HP:6000988 Cochlear nerve aplasia HP:6000988 A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss. PMID:37591623 Abnormally small lateral ventricle with a slit-like appearance. 2024-07-07T21:05:07Z human_phenotype HP:6000989 Slit-like lateral ventricle HP:6000989 Abnormally small lateral ventricle with a slit-like appearance. PMID:38054405 A history of exposure during pregnancy (including during the period of conception) of the mother of a fetus or child to methamphetamine. 2024-07-07T21:05:07Z Antenatal methamphetamine exposure Antenatal methamphetamine use Fetal meth exposure Methamphetamine use during pregnancy Prenatal methamphetamine exposure Prenatal methamphetamine use human_phenotype HP:6000990 Fetal methamphetamine exposure HP:6000990 A history of exposure during pregnancy (including during the period of conception) of the mother of a fetus or child to methamphetamine. PMID:26212684 Concentration of 4-hydroxybutyric acid in the blood circulation above the upper limit of normal. 2024-07-09T16:11:09Z human_phenotype HP:6000991 Elevated circulating 4-hydroxybutyric acid concentration HP:6000991 Concentration of 4-hydroxybutyric acid in the blood circulation above the upper limit of normal. PMID:9683595 The amount of 2,4-dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-09T16:11:09Z human_phenotype HP:6000992 Elevated urinary 2,4-dihydroxybutyric acid level HP:6000992 A higher than normal tendency of parasympathomimetic agents to induce miosis. 2024-07-10T07:42:07Z human_phenotype HP:6000993 Topical administration of methacholine 2.5% or pilocarpine 0.0625% has no observable effect on the normal pupil but causes miosis after approximately 20 minutes in almost all individuals with familial dysautonomia. Pupillary hypersensitivity to parasympathomimetic agents HP:6000993 A higher than normal tendency of parasympathomimetic agents to induce miosis. PMID:16754691 PMID:20301359 4-hydroxyamphetamine is used in eye drops to dilate the pupil, e.g.., to induce mydriasis for fundus examinations. This term refers to a lack of response of the pupil to topical application of 4-hydroxyamphetamine. 2024-07-10T07:42:07Z human_phenotype HP:6000994 Lack of pupillary response to hydroxyamphetamine HP:6000994 4-hydroxyamphetamine is used in eye drops to dilate the pupil, e.g.., to induce mydriasis for fundus examinations. This term refers to a lack of response of the pupil to topical application of 4-hydroxyamphetamine. PMID:20301647 Abnormal morphology of subcortical U fibers, typically as assessed by abnromal intensity on magnetic resonance imaging of the brain. 2024-07-10T07:42:07Z Subcortical U fiber involvement human_phenotype HP:6000995 Subcortical U-fibers are special types of short association fibers located in the superficial white matter (SWM). In contrast to the SWM, the U-fibers only connect the adjacent gyri. Since U-fibers have a rich blood supply from long perforating arteries and short perforating arteries that span the white matter (WM) and adjacent cortex, they are usually unaffected in chronic ischemic WM disease. Anatomically, U-fibers originate from pyramidal neurons of layer 6 of the cerebral cortex and provide local integration of different sites of the same gyrus or immediately adjacent gyri. Developmentally, U-fibers do not fork until the second half of gestation when gyration and sulcation of the cerebral cortex occur. As a result, U-fibers are not readily involved in diseases of myelin metabolism, such as adrenoleukodystrophy and metachromatic leukodystrophy. However, in demyelinating diseases with normal myelin and oligodendrocyte dominance, including multiple sclerosis and progressive multifocal leukoencephalopathy, U-fibers are commonly involved Pathologic processes that involve the white matter typically appear hyperintense on T2/FLAIR images. Subcortical U fiber lesion HP:6000995 Abnormal morphology of subcortical U fibers, typically as assessed by abnromal intensity on magnetic resonance imaging of the brain. PMID:38223048 A lipoma (a benign encapsulated mass with lobulated mature adipose tissue enclosed by fibrous tissue) located within the spine but outside of the dura mater. 2024-07-10T07:42:07Z human_phenotype HP:6000996 Intraspinal extradural lipoma HP:6000996 A lipoma (a benign encapsulated mass with lobulated mature adipose tissue enclosed by fibrous tissue) located within the spine but outside of the dura mater. PMID:30488010 An abnormal enlargement or swelling localized to the nasal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2024-07-10T07:42:07Z human_phenotype HP:6000997 Intranasal mass HP:6000997 Subcapsular hepatic rupture is characterized by the development of a hematoma, often quite large, beneath the liver capsule. An interval of days or hours may elapse between the time of injury and the first appearance of symptoms. A history of injury may be entirely lacking, or may be so unremarkable that it is elicited only by diligent interrogation. The hematoma tends to increase in size. 2024-07-10T07:42:07Z human_phenotype HP:6000998 Liver rupture HP:6000998 Subcapsular hepatic rupture is characterized by the development of a hematoma, often quite large, beneath the liver capsule. An interval of days or hours may elapse between the time of injury and the first appearance of symptoms. A history of injury may be entirely lacking, or may be so unremarkable that it is elicited only by diligent interrogation. The hematoma tends to increase in size. PMID:13915569 The amount of mandelic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6000999 Elevated urinary mandelic acid HP:6000999 The amount of malic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001000 Elevated urine malic acid level HP:6001000 The amount of 3-hydroxysebacic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001001 Elevated urine 3-hydroxysebacic acid level HP:6001001 The amount of vanillactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001002 Elevated urinary vanillactic acid level HP:6001002 The amount of 4,5-dihydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001003 Elevated urine 4,5-dihydroxyhexanoic acid level HP:6001003 The amount of hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001004 Hydroxyphenyllactic acid or 4-hydroxyphenyllactate (the L-form) is a tyrosine metabolite. The level of L-hydroxyphenyllactic acid is elevated in patients with a deficiency of the enzyme p-hydroxyphenylpyruvate oxidase (EC 1.14.2.2). Elevated urine hydroxyphenyllactic acid level HP:6001004 The amount of hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:4720815 Demonstration of the presence of cytomegalovirus in the stomach by means of a method such as in-situ hybridization. 2024-07-10T07:42:07Z human_phenotype HP:6001005 Positive gastric CMV intranuclear inclusions HP:6001005 Demonstration of the presence of cytomegalovirus in the stomach by means of a method such as in-situ hybridization. PMID:24010116 The amount of dihydroxycholestanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z Elevated urine DHCA level human_phenotype HP:6001006 Elevated urine dihydroxycholestanoic acid level HP:6001006 The amount of dihydroxycholestanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:27647924 The amount of bile alcohol in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001007 Elevated urinary bile alcohol level HP:6001007 The amount of bile alcohol in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:20301583 The amount of glucose tetrasaccharide in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001008 Elevated urine glucose tetrasaccharide level HP:6001008 The amount of glucose tetrasaccharide in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:20301438 The amount of 4-hydroxy-2-oxoglutarate in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-10T07:42:07Z human_phenotype HP:6001009 Increased urine 4-hydroxy-2-oxoglutarate level HP:6001009 The amount of 4-hydroxy-2-oxoglutarate in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:26401545 Lack of ability to purse or pucker the lips. 2024-07-12T10:19:08Z human_phenotype HP:6001010 The anomaly can be related to abnormalities of the muscles, nerves, or structure of the face. Inability to protrude lips HP:6001010 Lack of ability to purse or pucker the lips. PMID:30804066 Wet voice is a perceptual vocal quality that is gurgly or liquid sounding and is due to the voice being produced through moisture. It is commonly used as an indicator of penetration and/or aspiration in clinical swallowing assessments and bedside screening tests. 2024-07-12T10:19:08Z human_phenotype HP:6001011 Wet voice HP:6001011 Wet voice is a perceptual vocal quality that is gurgly or liquid sounding and is due to the voice being produced through moisture. It is commonly used as an indicator of penetration and/or aspiration in clinical swallowing assessments and bedside screening tests. PMID:25001523 An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus. 2024-07-12T10:19:08Z human_phenotype HP:6001012 Erythema marginatum HP:6001012 An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus. PMID:32491767 Mechanic's hands are fissured, erythematous, hyperkeratotic eruptions on the hands, resembling the type of occupational dermatosis said to resemble the hands of a manual laborer. The lesions are classically on the lateral edges of the fingers and thumbs, largely sparing the palmar, and dorsal aspects of the digits. 2024-07-12T10:19:08Z human_phenotype HP:6001013 This feature can be observed in antisynthetase syndrome (ASyS), an autoimmune disease clinically manifested most often by interstitial lung disease, myositis, and arthritis. Mechanic's hands HP:6001013 Mechanic's hands are fissured, erythematous, hyperkeratotic eruptions on the hands, resembling the type of occupational dermatosis said to resemble the hands of a manual laborer. The lesions are classically on the lateral edges of the fingers and thumbs, largely sparing the palmar, and dorsal aspects of the digits. PMID:32284267 PMID:36186825 Hyperkeratotic scaly fissured plaques on the fingers/palms or soles, generally more evident on the lateral aspect of index fingers. 2024-07-12T10:19:08Z human_phenotype HP:6001014 Hiker's feet is a finding that is analogous to mechanic's hands with similar hyperkeratotic eruptions on the toes and feet, and is a manifestation of antisynthetase syndrome. Hiker's feet HP:6001014 Hyperkeratotic scaly fissured plaques on the fingers/palms or soles, generally more evident on the lateral aspect of index fingers. PMID:32284267 PMID:35382516 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA-DQ). DQ is one of several antigens involved in antibody-mediated rejection of organ transplants. 2024-07-12T10:19:08Z human_phenotype HP:6001015 Anti-HLA-DQ antibody positivity HP:6001015 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA-DQ). DQ is one of several antigens involved in antibody-mediated rejection of organ transplants. PMID:23260706 Erythropoietin is produced and released into the blood by the kidneys in response to hypoxemia, and would normally be expected to increase with decreasing hemoglobin levels. This term applies if the increase fails to occur, as may be seen in conditions including chronic kidney disease. 2024-07-12T10:19:08Z human_phenotype HP:6001016 Inappropriate normal or low erythropoietin HP:6001016 Erythropoietin is produced and released into the blood by the kidneys in response to hypoxemia, and would normally be expected to increase with decreasing hemoglobin levels. This term applies if the increase fails to occur, as may be seen in conditions including chronic kidney disease. PMID:32311841 A condition in which food moves through the stomach into the small intestine at an abnormally fast rate. 2024-07-12T10:19:08Z Dumping syndrome human_phenotype HP:6001017 Dumping is the effect of alteration in the motor functions of the stomach, including disturbances in the gastric reservoir and transporting function. Anatomic and physiologic changes introduced by gastric surgery result in clinically significant dumping syndrome in approximately 10% of patients. Gastrointestinal hormones play an important role in dumping by mediating responses to surgical resection. Treatment options of dumping syndrome include diet, medications, and surgical revision. Rapid gastric emptying HP:6001017 A condition in which food moves through the stomach into the small intestine at an abnormally fast rate. PMID:16207692 Abnormal deposition of calcium in mediastinal lymph nodes. 2024-07-12T10:19:08Z Calcified mediastinal lymph nodes human_phenotype HP:6001018 Lymph node calcifications most often result from prior granulomatous infections, especially tuberculosis and histoplasmosis. Other, less common, causes are sarcoidosis, silicosis, amyloidosis, and calcifications secondary to the treatment of lymphomas (radiation therapy or chemotherapy). Mediastinal lymph node calcification HP:6001018 Abnormal deposition of calcium in mediastinal lymph nodes. PMID:29791561 Eggshell calcification refers to fine calcification seen at the periphery of a mass and usually relates to lamellar lymph node calcification. 2024-07-12T10:19:08Z Peripheral calcification of lymph nodes human_phenotype HP:6001019 Eggshell calcification, commonly occurs in patients with silicosis and coal-worker's pneumoconiosis. Sarcoidosis, postirradiation Hodgkin disease, blastomycosis, and scleroderma are other reported causes. Eggshell calcification has more rarely been observed in amyloidosis and histoplasmosis. Eggshell calcification of lymph nodes HP:6001019 Eggshell calcification refers to fine calcification seen at the periphery of a mass and usually relates to lamellar lymph node calcification. PMID:29791561 PMID:6779537 Abnormal accumulation of fluid within the knee joint or around the knee. Symptoms maye include, pain, swelling, and stiffness. 2024-07-12T10:19:08Z human_phenotype HP:6001020 Increased intra-articular amount of (synovial) fluid is not specific for a particular disorder, as can occur in a variety of settings but draws attention to the presence of a joint disorder, such as knee osteoarthritis, or rheumatoid arthritis. Knee joint effusion HP:6001020 Abnormal accumulation of fluid within the knee joint or around the knee. Symptoms maye include, pain, swelling, and stiffness. PMID:31575400 Skin emphysema/Subcutaneous emphysema occurs when gas or air accumulates and seeps under the skin, where normally no gas should be present. While the presence of air in subcutaneous or mediastinal tissue is not dangerous in itself, prompt recognition of the underlying cause is essential. 2024-07-12T10:19:08Z Skin emphysema human_phenotype HP:6001021 Subcutaneous emphysema can be caused by medical procedures and medical conditions that cause the pressure in the alveoli of the lung to be higher than that in the tissues outside of them. Its most common causes are pneumothorax or a chest tube that has become occluded by a blood clot or fibrinous material. It can also occur spontaneously due to rupture of the alveoli, with dramatic presentation. When the condition is caused by surgery it is called surgical emphysema. The term spontaneous subcutaneous emphysema is used when the cause is not clear. Subcutaneous emphysema HP:6001021 Skin emphysema/Subcutaneous emphysema occurs when gas or air accumulates and seeps under the skin, where normally no gas should be present. While the presence of air in subcutaneous or mediastinal tissue is not dangerous in itself, prompt recognition of the underlying cause is essential. PMID:31194349 Bone scintigraph is performed with technetium 99m-labeled diphosphonates. The uptake of these radiopharmaceuticals depicts osteoblastic activity and regional blood flow to bone. 2024-07-18T14:41:44Z Bone scan (scintigraphy): abnormally increased uptake Increase bone scan uptake human_phenotype HP:6001022 Bone scintigraphy is frequently performed as part of the routine staging of patients with a wide variety of primary malignancies. Although it is a sensitive imaging modality, it is relatively nonspecific, and there are many potential causes of increased isotope uptake that can mimic metastatic disease. Elevated bone scintigraphy uptake HP:6001022 Bone scintigraph is performed with technetium 99m-labeled diphosphonates. The uptake of these radiopharmaceuticals depicts osteoblastic activity and regional blood flow to bone. PMID:21889871 Concentration or activity of long-chain-enoyl-CoA hydratase (EC 4.2.1.74) as measured in cultured fibroblasts is below the limits of normal. 2024-07-18T14:41:44Z human_phenotype HP:6001023 Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts HP:6001023 Concentration or activity of acetyl-CoA C-acyltransferase (EC 2.3.1.16) as measured in cultured fibroblasts is below the limits of normal. This enzyme catalyzes the reaction acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA. It is also known as 3-ketoacyl-CoA thiolase and beta-ketothiolase. 2024-07-18T14:41:44Z Reduced 3-ketoacyl-CoA thiolase activity in cultured fibroblasts human_phenotype HP:6001024 Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts HP:6001024 Pathological inclusion bodies are are composed of glycogen, proteins, nucleic acids, lipids, hemosiderin, and calcium, that accumulate as metabolic by-products, catabolic products of macromolecular complexes, or in the context of cell injury. 2024-07-18T14:41:44Z human_phenotype HP:6001025 Pathological inclusion body HP:6001025 Diminished or absent collagen alpha5(IV) chain staining pattern in the epidermal basement membrane. 2024-07-18T14:41:44Z human_phenotype HP:6001026 Reduced epidermal collagen IV alpha 5 chain staining HP:6001026 Diminished or absent collagen alpha5(IV) chain staining pattern in the epidermal basement membrane. PMID:22921432 Abnormal reduction in the amount of the alpha 3 chain of collagen IV in the basement membrane of the glomeruli of the kidney. 2024-07-18T14:41:44Z human_phenotype HP:6001027 Diminished glomerular basement membrane collagen IV alpha 3 chain staining HP:6001027 Abnormal reduction in the amount of the alpha 3 chain of collagen IV in the basement membrane of the glomeruli of the kidney. PMID:8793804 Abnormal reduction in the amount of the alpha 4 chain of collagen IV in the basement membrane of the glomeruli of the kidney. 2024-07-18T14:41:44Z human_phenotype HP:6001028 Diminished glomerular basement membrane collagen IV alpha 4 chain staining HP:6001028 Abnormal reduction in the amount of the alpha 5 chain of collagen IV in the basement membrane of the glomeruli of the kidney. 2024-07-18T14:41:44Z human_phenotype HP:6001029 Diminished glomerular basement membrane collagen IV alpha 5 chain staining HP:6001029 HP:6000079 2024-07-18T14:41:44Z human_phenotype HP:6001030 obsolete Peripheral nerve metachromasia true HP:6001030 A cystine stone is a type of kidney stone that is yellowish brown with a granular surface. They are observed in individuals with Cystinuria and tend to be of early onset, to occur repeatedly, and to be associated with urinary tract infections. 2024-07-18T14:41:44Z human_phenotype Yellowish brown character to kidney stone suggestive of cystine HP:6001031 Cystine nephrolithiasis HP:6001031 A cystine stone is a type of kidney stone that is yellowish brown with a granular surface. They are observed in individuals with Cystinuria and tend to be of early onset, to occur repeatedly, and to be associated with urinary tract infections. PMID:25383320 PMID:32494553 Accumulation of cystine in the liver. 2024-07-18T14:41:44Z human_phenotype HP:6001032 Cystine crystal accumulation activates Kupffer cells and secreted vasoactive substances cause vasoconstriction in microcirculation resulting in portal hypertension Hepatic cystine accumulation HP:6001032 Accumulation of cystine in the liver. PMID:32727395 The presence of cystine crystals in bone marrow cells as demonstrated in a fresh bone marrow aspiration sample. 2024-07-18T14:41:44Z human_phenotype HP:6001033 Bone marrow cystine accumulation HP:6001033 The presence of cystine crystals in bone marrow cells as demonstrated in a fresh bone marrow aspiration sample. PMID:28871612 Desmoid tumors are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and tendency to recur. Desmoid tumors do not metastasize but can arise in any part of the body: extra-abdominal (appear in the head and neck, chest, extremities), and abdominal wall or intra-abdominal (originating in tissue that connects abdominal organs). 2024-07-18T14:41:44Z Aggressive fibromatosis Desmoid-type fibromatosis human_phenotype HP:6001034 Desmoid tumor HP:6001034 Desmoid tumors are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and tendency to recur. Desmoid tumors do not metastasize but can arise in any part of the body: extra-abdominal (appear in the head and neck, chest, extremities), and abdominal wall or intra-abdominal (originating in tissue that connects abdominal organs). PMID:32004793 PMID:37436594 A segment of the jejunum that runs parallel to the normal jejunum and communicates with the jejunal lumen at one or both ends. 2024-07-20T13:25:59Z human_phenotype HP:6001035 Tubular jejunal duplication HP:6001035 A segment of the jejunum that runs parallel to the normal jejunum and communicates with the jejunal lumen at one or both ends. PMID:1773546 A full thickness tear or breakage of the myocardium of the left ventricle. 2024-07-20T13:25:59Z human_phenotype HP:6001036 Left ventricular rupture HP:6001036 A full thickness tear or breakage of the myocardium of the left ventricle. PMID:20301667 PMID:32644697 Multiple punctate (speckled, patchy spot-like) and/or curvilinear areas of gadolinium enhancement distributed around blood vessels in the pons. 2024-07-20T13:25:59Z human_phenotype HP:6001037 The lesions may extend into adjacent CNS structures, caudally to the medulla oblongata or the cervicothoracal spinal cord, rostrally to the midbrain, and even involve supratentorial regions such as the thalami, capsula interna, basal ganglia, corpus callosum and cerebral white matter. See Figure 1 of PMID:24028073. Punctate pontine perivascular enhancement HP:6001037 Multiple punctate (speckled, patchy spot-like) and/or curvilinear areas of gadolinium enhancement distributed around blood vessels in the pons. PMID:24028073 Presence of one or more adult worms in the intestine as demonstrated by sonography or passage of a worm in the stool. On sonography, worms may appear as linear, echogenic structures within the intestines. 2024-07-20T13:25:59Z human_phenotype HP:6001038 Intestinal worm HP:6001038 Presence of one or more adult worms in the intestine as demonstrated by sonography or passage of a worm in the stool. On sonography, worms may appear as linear, echogenic structures within the intestines. PMID:27551336 Demonstration of one or more worms in the scrotum. This finding can be appreciated by sonography, where echogenic, linear structures could be seen moving within the scrotum. 2024-07-20T13:25:59Z Filaria dance sign human_phenotype HP:6001039 Scrotal worm HP:6001039 Demonstration of one or more worms in the scrotum. This finding can be appreciated by sonography, where echogenic, linear structures could be seen moving within the scrotum. PMID:12636874 A small bowel tumor with adenomatous epithelium. 2024-07-20T13:25:59Z human_phenotype HP:6001040 Grossly and histologically, adenomas arising in the mucosa of the small intestine are similar to the adenomas found in the colon. Small intestinal adenoma HP:6001040 A small bowel tumor with adenomatous epithelium. PMID:7248908 Mottling (spots or blotches with different shades) of the retinal pigment epithelium in the mother of the index patient. Retinal mottling may indicate a mosaic X-linked inactivation state in the mother. 2024-07-20T13:25:59Z human_phenotype HP:6001041 Maternal retinal mottling HP:6001041 Mottling (spots or blotches with different shades) of the retinal pigment epithelium in the mother of the index patient. Retinal mottling may indicate a mosaic X-linked inactivation state in the mother. PMID:17460294 A stretched conical-shaped structure found at the gallbladder neck with several linear echoes converging towards its tip. This finding is demonstrated by sonography and can indicate gallbladder volvulus. 2024-07-20T13:25:59Z Conical structure at the gallbladder neck human_phenotype HP:6001042 Twisted gallbladder pedicle HP:6001042 A stretched conical-shaped structure found at the gallbladder neck with several linear echoes converging towards its tip. This finding is demonstrated by sonography and can indicate gallbladder volvulus. PMID:35355530 Fistula between the gallbladder and the intestine. 2024-07-20T13:25:59Z human_phenotype HP:6001043 Cholecyst-enteric fistula HP:6001043 Fistula between the gallbladder and the intestine. PMID:28613584 Impaired ability to accurately measure or estimate time intervals. 2024-07-20T13:25:59Z human_phenotype HP:6001044 Common signs of dyschronometria are often generic to cerebellar ataxia, including a lack of spatial awareness, poor short term memory, and inability to keep track of time. For example, when asked to wait for thirty seconds, or tap every second that has gone by, those affected will be able to perform the task for a short time and then become derailed. This can result from a loss of focus, however, more often than not the individual affected can no longer tell what they are doing and they become disoriented. This often takes form in forgetting basic time keeping unless a timer is set, such as when cooking for example. Dyschronometria does not affect the 24-hour circadian rhythm, which is sustained by a different biological process. Dyschronometria HP:6001044 Impaired ability to accurately measure or estimate time intervals. PMID:17214571 PMID:19874739 PMID:27127597 PMID:31526769 PMID:37622046 History of recently intermittent breastfeeding an infant (i.e., on and off). 2024-07-20T13:25:59Z human_phenotype HP:6001045 Recent on and off breastfeeding can be a risk factor for galactocele and breast abscess. History of recent intermittent breastfeeding HP:6001045 A benign, fluid-filled sac in the breast. 2024-07-20T13:25:59Z human_phenotype HP:6001046 Breast cyst HP:6001046 Applies to an abnormality whose distribution and appearance are well-defined and localized to a specific area. 2024-07-20T13:25:59Z human_phenotype HP:6001047 Circumscribed HP:6001047 Applies to an abnormality that displays multiple indentations and/or elevations producing an irregular surface contour. 2024-07-20T13:25:59Z human_phenotype HP:6001048 Lobulated HP:6001048 Applies to an abnormality with irregular, radiating, or spiky edges. 2024-07-20T13:25:59Z human_phenotype HP:6001049 A spiculated mass is a centrally dense lesion seen on mammography with sharp lines radiating from its margin. The spicules can vary greatly in length, from a few millimeters to several centimeters. In malignant lesions, spicules represent a mixture of tumor cells and fibrosis invading the normal tissue surrounding the lesion. Spiculated HP:6001049 Applies to an abnormality with irregular, radiating, or spiky edges. PMID:32809592 Applies to an abnormality whose distribution and appearance resembles series of a concentric circles or spirals. 2024-07-20T13:25:59Z human_phenotype HP:6001050 Whorled HP:6001050 Delta brushes are transient patterns characterised by a slow delta wave with superimposed fast activity. 2024-07-20T13:25:59Z human_phenotype HP:6001051 Delta brushes are the hallmark of the EEG of premature infants. Delta brush pattern on EEG HP:6001051 Delta brushes are transient patterns characterised by a slow delta wave with superimposed fast activity. PMID:30214965 Fusion of the junction between the distal tibia, fibula and the talus. 2024-07-20T13:25:59Z human_phenotype HP:6001052 Tibiotalar synostosis HP:6001052 Fusion of the junction between the distal tibia, fibula and the talus. PMID:27577507 PMID:27594929 he term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture. 2024-07-20T13:25:59Z Pancake vertebra Silver dollar vertebra human_phenotype HP:6001053 Vertebra plana HP:6001053 he term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture. PMID:12432108 An abnormal gait caused by a rotational variation anywhere in the lower extremity that causes the foot to point inward, instead of pointing straight ahead or outward, when walking or running. 2024-07-20T13:25:59Z Pigeon-toed human_phenotype HP:6001054 The three major causes of pediatric in-toeing are metatarsus adductus, internal tibial torsion, and femoral anteversion. Intoeing HP:6001054 An abnormal gait caused by a rotational variation anywhere in the lower extremity that causes the foot to point inward, instead of pointing straight ahead or outward, when walking or running. PMID:28925669 PMID:29148202 A vibration felt upon palpation of a blood vessel over an extremity. 2024-07-20T13:25:59Z human_phenotype HP:6001055 This feature can be due to an arteriovenous malformation. Palpable thrill on extremity HP:6001055 The feet turn excessively outward when walking, caused by a rotational variation in the leg. 2024-07-20T13:25:59Z Duck feet External rotated feet Toeing out human_phenotype HP:6001056 Out-toeing HP:6001056 The feet turn excessively outward when walking, caused by a rotational variation in the leg. PMID:36098609 An abnormal separation between the talo-tibial joint. 2024-07-20T13:25:59Z human_phenotype HP:6001057 Ankle dislocation HP:6001057 An abnormal separation between the talo-tibial joint. PMID:32119497 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuronal intermediate filament. 2024-07-20T13:25:59Z human_phenotype HP:6001058 Anti-neuronal intermediate filament antibody positivity HP:6001058 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuronal intermediate filament. PMID:30282771 The presence of autoantibodies in the serum that react against dendritic spine scaffolding protein Drebrin. 2024-07-20T13:25:59Z human_phenotype HP:6001059 Anti-DREBRIN antibody positivity HP:6001059 The presence of autoantibodies in the serum that react against dendritic spine scaffolding protein Drebrin. PMID:32196746 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-lipoprotein lipase. 2024-07-20T13:25:59Z Anti-LPL autoantibody positivity human_phenotype HP:6001060 Anti-lipoprotein lipase autoantibody positivity HP:6001060 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-lipoprotein lipase. PMID:15840743 PMID:28916403 PMID:29784574 PMID:36123759 The presence of autoantibodies in the blood circulation that react against apoCII. 2024-07-20T13:25:59Z Anti-apoCII autoantibody positivity human_phenotype HP:6001061 Anti-apolipoprotein CII autoantibody positivity HP:6001061 The presence of autoantibodies in the blood circulation that react against apoCII. PMID:30706594 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye. 2024-07-20T13:25:59Z human_phenotype HP:6001062 Eosinophilic neuronal inclusion bodies HP:6001062 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye. PMID:11138927 A characteristic smell said to resemble the odor of dirty socks. 2024-07-20T13:25:59Z human_phenotype HP:6001063 This feature is characteristic of isoveleric acidemia. Sweaty foot-like odor HP:6001063 A characteristic smell said to resemble the odor of dirty socks. PMID:16602101 PMID:33521113 PMID:38484105 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor. 2024-07-21T09:58:00Z human_phenotype HP:6001064 Nicotinic acetylcholine receptors (AChR) are ligand-gated cation channels that are present throughout the nervous system. The muscle AChR mediates transmission at the neuromuscular junction; antibodies against the muscle AChR are the cause of myasthenia gravis. The ganglionic (alpha 3-type) neuronal AChR mediates fast synaptic transmission in sympathetic, parasympathetic, and enteric autonomic ganglia. Impaired cholinergic ganglionic synaptic transmission is one important cause of autonomic failure. Anti-acetylcholine receptor antibody positivity HP:6001064 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor. PMID:18474849 Applies to an abnormality that is located on hair shafts. 2024-07-21T09:58:00Z human_phenotype HP:6001065 Hair shaft lesion HP:6001065 History of use of tightly fitting shoes for a long period of time. 2024-07-21T09:58:00Z human_phenotype HP:6001066 This may be a risk factor for tinea pedis. Prolonged use of tightly fitting footwear HP:6001066 History of use of tightly fitting shoes for a long period of time. PMID:29262247 Applies to a sign or symptom that is provoked or brought about ingestion of high quantities of protein. 2024-07-21T09:58:00Z Triggered by protein-rich foods human_phenotype HP:6001067 Metabolic triggers for late-onset urea cycle disorders include excessive protein intake. Triggered by high protein intake HP:6001067 Applies to a sign or symptom that is provoked or brought about ingestion of high quantities of protein. PMID:32373372 PMID:38484105 An abnormally increased thickness of a leaflet of the tricuspid valve. 2024-07-21T09:58:00Z human_phenotype HP:6001068 Thickened tricuspid valve cusp HP:6001068 An abnormally increased thickness of a leaflet of the tricuspid valve. PMID:28706876 Abnormal shifting of the anterior fontanelle fropm its normal central position. 2024-07-21T09:58:00Z Displacement of the anterior fontanelle human_phenotype HP:6001069 This feature can be related to an abnormality of the cranial sutures, mostly craniosynostosis. Displaced anterior fontanelle HP:6001069 Abnormal shifting of the anterior fontanelle fropm its normal central position. PMID:20216454 PMID:24123776 PMID:31691965 Accumulation of cerebral spinal fluid in the subdural space. 2024-07-21T09:58:00Z human_phenotype HP:6001070 Subdural hygroma HP:6001070 Accumulation of cerebral spinal fluid in the subdural space. PMID:9653522 Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). 2024-07-21T09:58:00Z human_phenotype HP:6001071 Incus ankylosis HP:6001071 Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). PMID:24969066 A tendency to reject a variety of foods and/or to eat a restricted range of foods. 2024-07-21T09:58:00Z human_phenotype HP:6001072 Excessive diet restriction HP:6001072 A tendency to reject a variety of foods and/or to eat a restricted range of foods. PMID:33171966 Dyskinesis is used to describe ventricular muscle segments that bulge outside the left ventricular cavity during systole, as opposed to contracting inwards with the rest of the segments. 2024-07-21T09:58:00Z human_phenotype HP:6001073 Left ventricular apical dyskinesis HP:6001073 Dyskinesis is used to describe ventricular muscle segments that bulge outside the left ventricular cavity during systole, as opposed to contracting inwards with the rest of the segments. PMID:37184762 A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate. 2024-07-21T09:58:00Z human_phenotype HP:6001074 Longitudinal erythronychia HP:6001074 A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate. PMID:30137841 PMID:38705197 Applied to a sign or symptom that is worsened by exposure to sunlight. 2024-07-21T09:58:00Z Aggravated by ultraviolet radiation exposure human_phenotype HP:6001075 Exacerbated by exposure to sunlight HP:6001075 Applied to a sign or symptom that is made worse by exposure to heat (high ambient temperatures). 2024-07-21T09:58:00Z Aggravated by high temperatures human_phenotype HP:6001076 Exacerbated by heat HP:6001076 Applied to a sign or symptom that is made worse by excessive sweating. 2024-07-21T09:58:00Z human_phenotype HP:6001077 High temperatures, high humidity, excessive sweating can exacerbate cutaneous wounds. Exacerbated by excessive sweating HP:6001077 Applied to a sign or symptom that is made worse by excessive sweating. PMID:26945535 The accumulation of a significant amount of exudate in the pleural space, accompanied by the presence of malignant cells or tumour tissue. 2024-07-21T09:58:00Z Malignant cells in pleural fluid human_phenotype HP:6001078 Malignant pleural effusion HP:6001078 The accumulation of a significant amount of exudate in the pleural space, accompanied by the presence of malignant cells or tumour tissue. PMID:27246596 In diabetes insipidus, affected individuals produce large quantities of dilute urine. In nephrogenic DI, the kidneys do not respond to vasopressin. In a water deprivation test or with administration of exogenous vasopressin, the osmolaltiy of the urine does not increase as normally. 2024-07-21T13:51:10Z human_phenotype HP:6001079 Inappropriately low urine osmolality following challenge HP:6001079 In diabetes insipidus, affected individuals produce large quantities of dilute urine. In nephrogenic DI, the kidneys do not respond to vasopressin. In a water deprivation test or with administration of exogenous vasopressin, the osmolaltiy of the urine does not increase as normally. PMID:16461963 Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE). 2024-07-21T13:51:10Z human_phenotype HP:6001080 In cortisone reductase deficiency-2, the ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE), which in CORTRD patients is typically less than 0.1 (reference range, 0.7 to 1.2). Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio HP:6001080 Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE). PMID:21325058 The amount of 2,4-dihydroxyglutarate in the urine, normalized for urine concentration, is above the upper limit of normal. 2024-07-21T13:51:10Z human_phenotype HP:6001081 Elevated urinary 2,4-dihydroxyglutarate level HP:6001081 The amount of 2,4-dihydroxyglutarate in the urine, normalized for urine concentration, is above the upper limit of normal. PMID:34821949 An abnormal result of the xylose absorption test that is used to assess the ability of the intestines to absorb D-xylose. D-xylose is a five-carbon monosaccharide found in some plants. The patient drinks a solution containing a specific amount of D-xylose and the concentration of xylose is measured in the blood circulation and then in the urine. A low amount of D-xylose indicates reduced small intestinal absorbtion. 2024-07-21T13:51:10Z human_phenotype HP:6001082 The standard 25-g D-xylose test in adults, based on analysis of a 5-h urine collection and a 1-h serum sample, discriminates between normal subjects and patients with proximal small intestinal malabsorption with X5% specificity and sensitivity. Abnormal urine D-xylose test HP:6001082 An abnormal result of the xylose absorption test that is used to assess the ability of the intestines to absorb D-xylose. D-xylose is a five-carbon monosaccharide found in some plants. The patient drinks a solution containing a specific amount of D-xylose and the concentration of xylose is measured in the blood circulation and then in the urine. A low amount of D-xylose indicates reduced small intestinal absorbtion. PMID:11418788 An abnormal growth or accumulation of tissue in a hemisphere of the cerebrum. Typically a mass is an initial finding that will lead to additional workup. 2024-07-21T13:51:10Z human_phenotype HP:6001083 Cerebral hemisphere mass lesion HP:6001083 Increased signal on T2 magnetic resonance imaging characterized by a linear region of high signal surrounding the lateral aspect of the putamen at 1.5 Tesla. 2024-07-21T13:51:10Z human_phenotype HP:6001084 T2-hyperintense putaminal rim HP:6001084 Increased signal on T2 magnetic resonance imaging characterized by a linear region of high signal surrounding the lateral aspect of the putamen at 1.5 Tesla. PMID:19147717 An abnormal growth or accumulation of tissue in the posterior fossa, affecting the cerebellum or fourth ventricle. Typically a mass is an initial finding that will lead to additional workup. 2024-07-21T13:51:10Z human_phenotype HP:6001085 Posterior fossa mass lesion HP:6001085 Abnormal increased variability in the timing between consecutive R-waves on an electrocardiogram. 2024-07-21T13:51:10Z human_phenotype HP:6001086 Sinus arrhythmia is a variation of normal sinus rhythm that characteristically presents with an irregular rate in which the change in the R-R interval is greater than 0.12 seconds. Irregular RR interval HP:6001086 Abnormal increased variability in the timing between consecutive R-waves on an electrocardiogram. PMID:30725696 PMID:35813391 Abnormally increased variability in the timing between consecutive P-waves on an electrocardiogram. 2024-07-21T13:51:10Z human_phenotype HP:6001087 Irregular P-P interval HP:6001087 Abnormally increased variability in the timing between consecutive P-waves on an electrocardiogram. PMID:35813391 Demonstration of fungi growing on hair by a method such as microscopy of hairs mounted on slides with 10% potassium hydroxide. 2024-07-21T13:51:10Z Fungal infection of hair human_phenotype HP:6001088 Fungal hair infection HP:6001088 Demonstration of fungi growing on hair by a method such as microscopy of hairs mounted on slides with 10% potassium hydroxide. PMID:29494084 PMID:31424762 PMID:32644450 A past medical history of having long, full hair. 2024-07-21T13:51:10Z human_phenotype HP:6001089 Long hairstyle HP:6001089 A past medical history of having long, full hair. PMID:31424762 fine white linear scars under intact conjunctival epithelium. This scarring appears in areas of previous conjunctival ulceration or pseudomembrane formation, weeks to months after the insult is healed. 2024-07-21T13:51:10Z human_phenotype HP:6001090 Subepithelial fibrosis can be a manifestation of ocular graft-versus-host disease (oGVHD), but can also be found after epidemic keratoconjunctivitis, Stevens-Johnson syndrome, and chemical burns. Conjunctival subepithelial fibrosis HP:6001090 fine white linear scars under intact conjunctival epithelium. This scarring appears in areas of previous conjunctival ulceration or pseudomembrane formation, weeks to months after the insult is healed. PMID:28789979 Abnormal reduction in depth of the fornix of the conjunctiva. The fornix is the area where the conjunctiva folds back upon itself, thereby creating a recessed space. 2024-07-21T13:51:10Z human_phenotype HP:6001091 Conjunctival fornix foreshortening HP:6001091 Abnormal reduction in depth of the fornix of the conjunctiva. The fornix is the area where the conjunctiva folds back upon itself, thereby creating a recessed space. PMID:24314841 History of exposure to ultraviolet light, such as may be encountered with outdoor activities, living near equator, radiation. 2024-07-21T13:51:10Z human_phenotype HP:6001092 Strong ultraviolet light exposure HP:6001092 A history of intravaginal cleansing with a liquid solution for personal hygiene or aesthetic reasons. 2024-07-21T13:51:10Z human_phenotype HP:6001093 Douching represents a risk factor for bacterial vaginosis. Exposure to vaginal douching HP:6001093 A history of intravaginal cleansing with a liquid solution for personal hygiene or aesthetic reasons. PMID:12762087 A history of applying oily lotions or creams to the skin. 2024-07-21T13:51:10Z human_phenotype HP:6001094 This may be a risk factor for tinea versicolor. Exposure to oily lotions or creams HP:6001094 A history of applying oily lotions or creams to the skin. PMID:29494106 Concentration of pristanic acid in the blood circulation above the upper limit of normal. This finding can be observed in Zellweger syndrome. Note that branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- and breast-fed infants. Thus, phytanic and pristanic acid levels are normal in a neonate with Zellweger spectrum disorder. 2024-07-21T13:51:10Z human_phenotype HP:6001095 Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion HP:6001095 Concentration of pristanic acid in the blood circulation above the upper limit of normal. This finding can be observed in Zellweger syndrome. Note that branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- and breast-fed infants. Thus, phytanic and pristanic acid levels are normal in a neonate with Zellweger spectrum disorder. PMID:20301621 Reduction in the level of ZAP-70 protein CD4-positive T cells. 2024-07-21T13:51:10Z Decreased T-cell ZAP-70 protein expression in CD4-positive T cells human_phenotype HP:6001096 Testing of CD4+ T cells reveals absence or near absence of ZAP-70 protein in most individuals affected by ZAP70-related combined immunodeficiency. Decreased CD4+ T cell ZAP-70 protein expression HP:6001096 Reduction in the level of ZAP-70 protein CD4-positive T cells. PMID:20301777 A type of contracture in which the dorsal flexion muscles of the ankle are contracted. 2024-08-05T13:00:29Z Dorsiflexion contracture of the ankle human_phenotype HP:6001097 Dorsiflexion of the ankle is the movement of the top of the foot towards the leg in an upward motion. With dorsal flexion contracture, the ability to passively or actively move the tip of the toe away from the leg is limited. Dorsal flexion contracture of the ankle HP:6001097 Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance. 2024-08-05T13:00:29Z Metaphyseal modeling defect Undermodelled metaphyses human_phenotype HP:6001098 Metaphyseal undermodelling HP:6001098 Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance. PMID:34484289 Compression of the common iliac vein against the spine by the contralateral common iliac artery. 2024-08-05T13:00:29Z human_phenotype HP:6001099 Pulsations of the overriding artery cause shear stress and endothelial changes in the vein, resulting in the formation of fibrous bands or spurs. Over time, the affected area forms a stricture, causing impaired venous return and, in some circumstances, deep venous thrombosis. Common iliac vein compression can be ascertained by Doppler sonography. Iliac vein compression HP:6001099 Compression of the common iliac vein against the spine by the contralateral common iliac artery. PMID:32119264 Detection of abnormal amyloid deposits in the body by 123I-labeled serum amyloid P component (SAP) scintigraphy. 2024-08-05T13:00:29Z Positive SAP scan human_phenotype HP:6001100 Positive serum amyloid P scintigraphy HP:6001100 Detection of abnormal amyloid deposits in the body by 123I-labeled serum amyloid P component (SAP) scintigraphy. PMID:16564782 Motor and/or sensory cranial nerve findings ipsilateral to the lesion, and at the same time motor and/or sensory findings on the contralateral side of the body. 2024-08-05T13:00:29Z human_phenotype HP:6001101 Crossed brainstem sign HP:6001101 Motor and/or sensory cranial nerve findings ipsilateral to the lesion, and at the same time motor and/or sensory findings on the contralateral side of the body. PMID:19252797 PMID:32809731 Reduced ability to inflate the cheeks by blowing air into them while keeping the lips closed. 2024-08-05T13:00:29Z human_phenotype HP:6001102 This feature may be related to facial muscle weakness as well as to cranial nerve VII lesions. Inability to puff cheeks HP:6001102 Visual sensations caused by changes within the eye itself, rather than by the normal light stimulation process. Entoptic phenomena are classified in the syndrome as floaters, blue field entoptic phenomenon, photopsia and self-light of the eye. 2024-08-05T13:00:29Z Entoptic phenomenona human_phenotype HP:6001103 Entoptic phenomenon HP:6001103 Visual sensations caused by changes within the eye itself, rather than by the normal light stimulation process. Entoptic phenomena are classified in the syndrome as floaters, blue field entoptic phenomenon, photopsia and self-light of the eye. PMID:36788360 An abnormality of the vestibulospinal (VS) reflexes, which contribute to the control of postural orientation. In this task, they continuously collaborate with reflexes elicited by stimulation of visual and somatosensory receptors. Labyrinthine receptors are sensitive to modifications (i) of the head position with respect to the earth vertical or (ii) of the angular/linear velocity of head motion in space. This information can be used to monitor deviations from the maintained body position. 2024-08-06T16:34:54Z human_phenotype HP:6001104 Abnormal vestibulo-spinal reflex HP:6001104 An abnormality of the vestibulospinal (VS) reflexes, which contribute to the control of postural orientation. In this task, they continuously collaborate with reflexes elicited by stimulation of visual and somatosensory receptors. Labyrinthine receptors are sensitive to modifications (i) of the head position with respect to the earth vertical or (ii) of the angular/linear velocity of head motion in space. This information can be used to monitor deviations from the maintained body position. PMID:29081426 PMID:38178884 An abnormal result of the probe-to-bone (PTB) test. The PTB test is performed by inserting a sterile, metal surgical probe into the ulcer and is positive if a hard, gritty surface is felt inside. For large wounds, this may require gentle exploration of the wound with the probe. 2024-08-06T16:34:54Z Abnormal probe-to-bone test human_phenotype HP:6001105 The basis behind the PTB test is that if a probe can reach bone, so can bacteria. Positive probe-to-bone test HP:6001105 An abnormal result of the probe-to-bone (PTB) test. The PTB test is performed by inserting a sterile, metal surgical probe into the ulcer and is positive if a hard, gritty surface is felt inside. For large wounds, this may require gentle exploration of the wound with the probe. PMID:27369321 A history of exposure to repetitive impact on palm or hand, such as working with a jackhammer. 2024-08-06T16:34:54Z Use of vibratory tools human_phenotype HP:6001106 This history can be a risk factor for carpal tunnel syndrome. Exposure to repetitive hand impact HP:6001106 A partial or complete breakage of the scaphoid bone. 2024-08-06T16:34:54Z Scaphoid bone fracture Scaphoid fracture human_phenotype HP:6001107 Fractured scaphoid bone HP:6001107 A partial or complete breakage of the scaphoid bone. PMID:24298746 Resistance to the effects of local anaesthesia, with delayed onset or failure of local anesthetics to incude numbness or relieve pain. 2024-08-06T16:34:54Z human_phenotype HP:6001108 This feature has been reported in individuals with Ehlers-Danlos syndrome. Local anesthetic ineffectiveness HP:6001108 Resistance to the effects of local anaesthesia, with delayed onset or failure of local anesthetics to incude numbness or relieve pain. PMID:31723666 Applied to lesions whose distribution is confined or restricted to the palms of the hands and soles of the feet. 2024-08-06T16:34:54Z human_phenotype HP:6001109 Palmoplantar location HP:6001109 A raised, flat-topped lesion with a diameter of one centimeter or more that is located in the mucosa of the mouth. 2024-08-06T16:34:54Z human_phenotype HP:6001110 Oral mucosa plaque HP:6001110 Detection of rabies nucleic acid in saliva by a method such as polymerase chain reaction. 2024-08-06T16:34:54Z human_phenotype HP:6001111 Positive saliva rabies nucleic acid test HP:6001111 Activity of arylsulfatase A (EC 3.1.6.8) above the upper limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes or in the blood circulation. 2024-08-06T16:34:54Z human_phenotype HP:6001112 Elevated tissue arylsulfatase A activity HP:6001112 The concentration of a methysterol in the blood circulation is above the upper limit of normal. 2024-08-06T16:34:54Z human_phenotype HP:6001113 This group of compounds includes thje 4-alpha-monomethyl sterols and 4,4-prime-dimethyl sterols. Elevated circulating methysterol concentration HP:6001113 The amount of adipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Adipic acid is an alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane. 2024-08-06T16:34:54Z human_phenotype HP:6001114 Elevated urinary adipic acid HP:6001114 Slow-wave activity observed in the temporal area of the scalp electro-encephalogram (EEG). 2024-11-13T22:02:28Z EEG with slow activity in temporal lobes EEG with slow-wave activity involving the temporal lobes human_phenotype HP:6001115 EEG with temporal slowing HP:6001115 Slow-wave activity observed in the temporal area of the scalp electro-encephalogram (EEG). PMID:31085562 Medical history of the hand having come into contact with the nozzle of a high-pressure injecting system such as a paint gun or air compressor. 2024-11-13T22:02:28Z human_phenotype HP:6001116 History of high-pressure injection injury of the hand HP:6001116 Medical history of the hand having come into contact with the nozzle of a high-pressure injecting system such as a paint gun or air compressor. PMID:31194367 Excessively long styloid process of the ulna. 2024-11-13T22:02:28Z Ulnar styloid large human_phenotype HP:6001117 Ulnar styloid impaction syndrome involves impaction between the tip of the ulnar styloid process and the triquetrum bone. This syndrome is most commonly seen in patients with excessively long or hypertrophic ulnar styloid processes and is not necessarily associated with positive ulnar variance. The ulnar styloid process index (USPI), calculated as the difference between the ulnar styloid length and the ulnar variance divided by the transverse diameter of the ulnar head, is commonly used to assess the size of the ulnar styloid. An excessively long ulnar styloid has a length greater than 6 mm or a USPI more than 0.21. Repetitive friction of the proximal pole of the triquetrum and the ulnar styloid tip leads to chondromalacia, synovitis, and ulnar-sided wrist pain. Hypertrophic ulnar styloid process HP:6001117 Excessively long styloid process of the ulna. PMID:31192047 A history of placement of a peripehral venous catheter in the hours, days, or weeks before the current presenting complaint. 2024-11-16T16:11:56Z human_phenotype HP:6001118 History of recent peripheral venous catheter HP:6001118 Exudation of a thick, opaque fluid from a wound or skin lesion, typically as a result of infection and draining pus, i.e., dead white blood cells, bacteria, and tissue debris. 2024-11-16T16:11:56Z human_phenotype HP:6001119 Purulent drainage from skin HP:6001119 A history of exposure of fingers by putting them in other peoples' mouths occupationally, e.g., as a dentist or physician. 2024-11-16T16:11:56Z human_phenotype HP:6001120 This is a risk factor for Herpetic whitlow. Occupational history of putting fingers in other people's mouths HP:6001120 Applies to an abnormality whose distribution and appearance are limited to or predominantly affect a single finger. 2024-11-16T16:11:56Z Single finger involvement human_phenotype HP:6001121 Single-finger involvement HP:6001121 Applies to an abnormality whose distribution and appearance affect more than one finger. 2024-11-16T16:11:56Z Multiple finger involvement human_phenotype HP:6001122 Multiple-finger involvement HP:6001122 Exquisite tenderness in a specific region, beyond what one would surmise from examination. 2024-11-16T16:11:56Z human_phenotype HP:6001123 This finding may be observed with several diseases including necrotizing fasciitis and gas gangrene. Pain disproportionate to abnormality on physical exam HP:6001123 Hypoplasia or aplasia of the greater or lesser wing of the sphenoid bone, typically resulting in widening of the superior orbital fissure, elevation of the [lesser sphenoid wing, and ipsilateral orbital enlargement. 2024-11-16T16:11:56Z human_phenotype HP:6001124 All reported cases of congenital sphenoid wing dysplasia have been attributed to neurofibromatosis type 1 (NF1). Sphenoid bone dysplasia occurs in 3-11 percent of the subjects with neurofibromatosis type 1 NF1 patients. This malformation, a distinctive diagnostic feature for NF1, is characterized by progressive proptosis and facial disfiguration secondary to herniation of meningeal and cerebral structures. Unilateral in most of the cases, sphenoid bone dysplasia associated with plexiform neurofibroma in the territory of the trigeminal nerve in several cases and pooling of cerebrospinal fluid (CSF) in all cases often described in the past as an arachnoid cyst. Sphenoid wing dysplasia HP:6001124 Hypoplasia or aplasia of the greater or lesser wing of the sphenoid bone, typically resulting in widening of the superior orbital fissure, elevation of the [lesser sphenoid wing, and ipsilateral orbital enlargement. PMID:28409229 PMID:33758729 PMID:4980937 An injury in which skin and underlying tissues are cut or torn. 2024-11-16T16:11:56Z human_phenotype HP:6001125 Skin laceration HP:6001125 An injury in which skin and underlying tissues are cut or torn. PMID:31424750 A partial or complete breakage of a metacarpal bone. 2024-11-16T16:11:56Z Fractured metacarpal bone human_phenotype HP:6001126 Metacarpal fracture HP:6001126 An unpleasant sensation characterized by physical discomfort localized to the base of the thumb, over thenar eminence or thumb metacarpal. 2024-11-16T16:11:56Z human_phenotype HP:6001127 The base of the thumb is the fleshy area on the palm side of the hand near where the thumb attaches to the hand. Pain at the base of the thumb HP:6001127 Medical history of participation in sports (football, basketball, soccer, skiing) in the hours, days, or weeks prior to the current presenting complaint. 2024-11-16T16:11:56Z human_phenotype HP:6001128 History of recent participation in athletics HP:6001128 History of trauma months to years ago, including but not limited to fracture or other orthopedic injury at the symptomatic area. 2024-12-03T17:26:54Z human_phenotype HP:6001129 This feature may suggest scaphoid nonunion advanced collapse, scapholunate advanced collapse, or distal radioulnar joint arthritis. Remote trauma history HP:6001129 An inflammatory condition of the joint that connects the far ends of the radius and the ulna, known as the distal radioulnar joint (DRUJ). DRUJ arthritis may be characterized by widening of the DRUJ interval, volar/dorsal displacement of the distal ulna, radiographic evidence of osteoarthritis at the DRUJ joint including osteophytes, subchondral cysts, subchrondal sclerosis, and joint space narrowing. 2024-12-03T17:26:54Z Arthritis of the distal radioulnar joint DRUJ arthritis human_phenotype HP:6001130 Arthritis of the distal radioulnar joint (DRUJ) between the sigmoid notch of the distal radius and the ulnar head can be caused by traumatic, inflammatory, congenital, and degenerative processes. Distal radioulnar joint arthritis HP:6001130 An inflammatory condition of the joint that connects the far ends of the radius and the ulna, known as the distal radioulnar joint (DRUJ). DRUJ arthritis may be characterized by widening of the DRUJ interval, volar/dorsal displacement of the distal ulna, radiographic evidence of osteoarthritis at the DRUJ joint including osteophytes, subchondral cysts, subchrondal sclerosis, and joint space narrowing. PMID:23027692 Fracture of the proximal end of the radius involving the radial head. 2024-12-03T17:26:54Z human_phenotype HP:6001131 Radial head fracture HP:6001131 An injury to the lateral collateral ligament (LCL) of the elbow. The LCL is a complex capsuloligamentous structure critical in stabilizing the ulnohumeral and radiocapitellar articulations. LCL injury can result in elbow instability, allowing the proximal radius and ulna to externally rotate away from the humerus as a supination stress is applied to the forearm. 2024-12-03T17:26:54Z Lateral ulnar collateral ligament tear Ligamentous tear on the lateral aspect of the elbow human_phenotype HP:6001132 Elbow lateral collateral ligament tear HP:6001132 An injury to the lateral collateral ligament (LCL) of the elbow. The LCL is a complex capsuloligamentous structure critical in stabilizing the ulnohumeral and radiocapitellar articulations. LCL injury can result in elbow instability, allowing the proximal radius and ulna to externally rotate away from the humerus as a supination stress is applied to the forearm. PMID:23261198 An injury to the medial collateral ligament (MCL) of the elbow. 2024-12-03T17:26:54Z Ligamentous tear on the medial aspect of the elbow human_phenotype HP:6001133 Elbow medial collateral ligament sprain occurs when the elbow is subjected to a valgus force exceeding the tensile properties of the medial collateral ligament (MCL). This is an injury seen more often in throwing athletes. Elbow medial collateral ligament tear HP:6001133 An injury to the medial collateral ligament (MCL) of the elbow. PMID:19468906 Fracture of the coronoid process on the proximal ulna. 2024-12-03T17:26:54Z human_phenotype HP:6001134 The coronoid process acts to buttress against the posterior translation of the ulna on the humerus. It is also the attachment site for the anterior elbow capsule, brachialis, and the medial collateral ligament of the elbow. Coronoid fractures are critical injuries and are suggestive of elbow instability. Coronoid fracture HP:6001134 Fracture of the coronoid process on the proximal ulna. PMID:39381286 A medical history of hving had a spinal cord injury prior to the presenting complaint. 2024-12-03T17:26:54Z human_phenotype HP:6001135 Spinal cord injury (SCI) results from direct or indirect spinal cord damage. The most common SCI cause is acute trauma from motor vehicular crashes (MVCs), although the condition may also arise from insidious etiologies such as malignancies and chronic tuberculous infection. Spinal cord lesions may lead to permanent disability, significant morbidity, and even mortality. High spinal injuries often impair cardiorespiratory function, requiring emergent interventions. History of spinal cord injury HP:6001135 A medical history of hving had a spinal cord injury prior to the presenting complaint. PMID:32809556 Paresthesias in anterior/medial aspect of the thigh (anterior and medial cutaneous nerves of the thigh) and/or medial aspect of the lower leg and foot (saphenous distribution). May be accompanied by weakness in the quadriceps. 2024-12-03T17:26:54Z human_phenotype HP:6001136 Femoral nerve distribution HP:6001136 Breakage (tear) of the triceps tendon. 2024-12-03T17:26:54Z human_phenotype HP:6001137 Triceps tendon rupture HP:6001137 Breakage (tear) of the triceps tendon. PMID:28832209 History of having been treateed with digoxin. 2024-12-06T08:59:20Z Digitalis exposure Lanoxin exposure human_phenotype HP:6001138 Digoxin is a cardiac glycoside derived from the foxglove plant (digitalis species). It has inotropic effects and is utilized in the management of systolic dysfunction in patients with congestive heart failure (CHF) and as an atrioventricular nodal blocking agent for managing atrial tachydysrhythmias. Gastrointestinal upset is the most common symptom of digoxin toxicity. Patients also may report visual symptoms, which classically present as a yellow-green discoloration, and cardiovascular symptoms, such as palpitations, dyspnea, and syncope. Digoxin exposure HP:6001138 History of having been treateed with digoxin. PMID:29262029 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the upper arm. 2024-12-06T08:59:20Z Proximal arm pain human_phenotype HP:6001139 Pain anywhere between the shoulder and elbow. Upper arm pain may be observed with conditions such as ulnar shaft fracture, intersection syndrome of hand tendons, Galeazzi fracture, radial tunnel syndrome, and wrist dislocation. Upper arm pain HP:6001139 A partial or complete breakage of the capitulum of the humerus, which is a smooth, rounded eminence on the lateral portion of the distal articular surface of the humerus. 2024-12-06T08:59:20Z Capitellar fracture human_phenotype HP:6001140 Capitellum fracture HP:6001140 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the anterior (front) part of the shoulder. 2024-12-06T08:59:20Z human_phenotype HP:6001141 Pain localized to the anterior aspect of the shoulder. Anterior shoulder pain may be observed in conditions such as proximal biceps tendon tear. Anterior shoulder pain HP:6001141 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front part of the elbow front part of the elbow, that is, on the ventral side of the arm where the arm bends. 2024-12-06T08:59:20Z human_phenotype HP:6001142 Pain at the anterior aspect of the elbow HP:6001142 Lateral elbow x-ray showing lucent crescent of fat that indicates a joint effusion in the elbow . 2024-12-06T08:59:20Z human_phenotype HP:6001143 Posterior fat pad sign of the elbow HP:6001143 Lateral elbow x-ray showing lucent crescent of fat that indicates a joint effusion in the elbow . PMID:22735922 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front part of the knee, that is, the side of the knee where the patella is located. 2024-12-06T08:59:20Z human_phenotype HP:6001144 Pain at the anterior aspect of the knee HP:6001144 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back part of the knee, that is, opposite to the side of the knee where the patella is located. 2024-12-06T08:59:20Z human_phenotype HP:6001145 Pain at the posterior aspect of the knee may be observed with Baker cyst. Pain at the posterior aspect of the knee HP:6001145 Biceps tendinitis is inflammation of the tendon around the long head of the biceps muscle. 2024-12-06T08:59:20Z Biceps tendinitis human_phenotype HP:6001146 MRI may show increased T2 signal around the biceps tendon or ultrasound showing thickening of the biceps tendon. Biceps tendonitis HP:6001146 Biceps tendinitis is inflammation of the tendon around the long head of the biceps muscle. PMID:19725488 Ultrasonography showing increased cross sectional area (CSA) of a peripheral nerve as it travels through a potential site of compression. 2024-12-08T19:44:56Z Peripheral nerve enlargement Peripheral nerve swelling human_phenotype HP:6001147 This feature may be observed in conditions such as carpal tunnel syndrome, ulnar tunnel syndrome, cubital tunnel syndrome, and radial tunnel syndrome. Increased peripheral nerve cross sectional area HP:6001147 Pain in extremity that worsens with joint is passively flexed. 2024-12-08T19:44:56Z human_phenotype HP:6001148 This feature may be observed in acute compartment syndrome. Pain exacerbated by passive flexion at joint HP:6001148 Pain in extremity that worsens with joint is passively flexed. PMID:25878982 With forearm fully supinated and elbow flexed to 90 degrees, examiner hooks a finger a bit around the distal biceps tendon at the anterior aspect of the elbow. Test is positive when there is lack of appreciable cord like structure to hook around. 2024-12-08T19:44:56Z Positive O'Driscoll hook test Positive distal biceps hook test human_phenotype HP:6001149 This sign can indicate a distal biceps tendon tear. Positive hook test at the elbow HP:6001149 With forearm fully supinated and elbow flexed to 90 degrees, examiner hooks a finger a bit around the distal biceps tendon at the anterior aspect of the elbow. Test is positive when there is lack of appreciable cord like structure to hook around. PMID:32788933 Manual downward pressure on the arm with the shoulders flexed forward to 90 degrees, elbows fully extended, and palm facing up recreates pain in the anterior shoulder region; named after Dr. Speed. 2024-12-08T19:44:56Z human_phenotype HP:6001150 The Speed's test was recorded as positive if the patient experienced pain in the proximal portion of the shoulder during the application of a downward force applied to the arm. The patient's arm was placed with the forearm in full supination at 90 degrees of shoulder elevation. See Figure 1 of PMID:9848587. Positive Speed's test HP:6001150 Manual downward pressure on the arm with the shoulders flexed forward to 90 degrees, elbows fully extended, and palm facing up recreates pain in the anterior shoulder region; named after Dr. Speed. PMID:9848587 A disruption of the greater and lesser arcs of the lunate bone, with the lunate having a triangular silhouette, know as the piece of pie sign. Often caused by falling on an outstretched hand, patients will have tenderness to palpation over the dorsum of the wrist and may have sensory deficits in the median nerve distribution. 2024-12-08T19:44:56Z Piece of pie sign of lunate bone human_phenotype HP:6001151 See Figure 3 of PMID:23616330. Triangular lunate bone HP:6001151 A disruption of the greater and lesser arcs of the lunate bone, with the lunate having a triangular silhouette, know as the piece of pie sign. Often caused by falling on an outstretched hand, patients will have tenderness to palpation over the dorsum of the wrist and may have sensory deficits in the median nerve distribution. PMID:22529764 PMID:23616330 Pain worsens with wrist ulnar or radial deviation. 2024-12-08T19:44:56Z human_phenotype HP:6001152 Ulnar: Triangular fibrocartilage complex tear; Ulnocarpal abutment syndrome Radial: Triangular fibrocartilage complex tear. Pain exacerbated by wrist deviation HP:6001152 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the side of the foot nearest to the little (fifth) toe. 2024-12-08T19:44:56Z Lateral foot pain human_phenotype HP:6001153 Pain on the lateral aspect of the foot HP:6001153 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the inner side of knee, that is, the region of the knee that faces the other knee. 2024-12-08T19:44:56Z human_phenotype HP:6001154 This feature may be observed with medial collateral ligament knee injury. Pain at the medial aspect of the knee HP:6001154 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the outer side of knee, that is, the region of the knee that faces away from the other knee. 2024-12-08T19:44:56Z human_phenotype HP:6001155 This feature may be observed with lateral collateral ligament injury. Pain at the lateral aspect of the knee HP:6001155 HP:6000248 2025-01-07T09:05:02Z human_phenotype HP:6001156 obsolete Synovial crystals true HP:6001156 A history of exposure to frequent squatting/kneeling and/or heavy lifting. 2025-01-07T09:05:02Z History of frequent kneeling human_phenotype HP:6001157 Occupations that require frequent kneeling such as roofing, construction workers, plumbers, electricians, landscapers, gardeners, carpenters, and housekeepers may increase risk of prepatellar bursitis and knee osteoarthritis. Occupational exposure to frequent kneeling HP:6001157 A history of exposure to frequent squatting/kneeling and/or heavy lifting. PMID:18597397 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the structures around the greater trochanter (the bony prominence on the outer part of the femur). 2025-01-07T09:05:02Z Lateral hip pain Pain at the lateral aspect of the hip Pain on the outside of the hip human_phenotype HP:6001158 Trochanteric pain HP:6001158 A noticeable lump or swelling in the arm or leg that you can feel with you fingers and this lump is beating or pulsating, similar to the feeling of a heartbeat. 2025-01-07T09:05:02Z human_phenotype HP:6001159 This finding may be observed with conditions such as arteriovenous malformation located in the arm or leg or withulnar artery thrombosis. Pulsatile mass in extremity HP:6001159 Any anomaly of the R wave of the EKG, which is the first upward deflection after the P wave. The R wave reflects early ventricular depolarisation. 2025-01-07T09:05:02Z human_phenotype HP:6001160 Abnormal R wave HP:6001160 Absence of the normal increase in size of the R wave in the precordial leads when advancing from lead V1 to V6 of the electrocardiogram. 2025-01-07T09:05:02Z human_phenotype HP:6001161 With normal R wave progression, the amplitude of the R wave gradually increased from V1 to V5 and decreases from V5 to V6. Abnormal R wave progression may be observed with myocardial infarction, cardiomyopathy, right or left ventricular hypertrophy, and other conditions. Poor R-wave progression HP:6001161 Absence of the normal increase in size of the R wave in the precordial leads when advancing from lead V1 to V6 of the electrocardiogram. PMID:35181482 The R wave in leads V1-V2 is normally considerably smaller in amplitude than the S wave in the same leads. Prominent R wave in these leads implies the R wave is larger than the S-wave, which may indicate cardiovascular pathology. This term includes Tall R wave in lead V1, which is defined by a R/S ratio greater than 1. 2025-01-07T09:05:02Z High voltage R wave in V1/V2 Prominent R wave in lead V1 human_phenotype HP:6001162 This electrocardiographic finding exists as a normal variant in only 1% of patients. Physicians should therefore be familiar with the differential diagnosis for this important QRS configuration. The electrocardiographic entities which can present with this finding include right bundle branch block, left ventricular ectopy, right ventricular hypertrophy, acute right ventricular dilation (acute right heart strain), type a Wolff-Parkinson-White syndrome, posterior myocardial infarction, hypertrophic cardiomyopathy, progressive muscular dystrophy, dextrocardia, misplaced precordial leads, and normal variant. Prominent V1-V2 R wave HP:6001162 The R wave in leads V1-V2 is normally considerably smaller in amplitude than the S wave in the same leads. Prominent R wave in these leads implies the R wave is larger than the S-wave, which may indicate cardiovascular pathology. This term includes Tall R wave in lead V1, which is defined by a R/S ratio greater than 1. PMID:11593472 An abnormal enlargement or swelling localized to a finger. 2025-01-07T09:05:02Z Bump on finger Finger growth Lump on finger human_phenotype HP:6001163 The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. Finger mass HP:6001163 An abnormal enlargement or swelling localized to a foot. 2025-01-07T09:05:02Z Bump on foot Foot growth Lump on foot human_phenotype HP:6001164 The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. Foot mass HP:6001164 A condition characterized by structural abnormalities of the retinal veins, including tortuosity, dilation, narrowing, or irregularities in branching patterns. These changes may be associated with systemic or ocular diseases such as retinal vein occlusion, diabetic retinopathy, or hypertensive retinopathy. 2025-01-31T09:45:36Z human_phenotype HP:6001165 Abnormal retinal vein morphology HP:6001165 Spongiosis refers to the increased intercellular edema in the epidermis resulting in the pulling away of the keratinocytes from their surrounding desmosomes. Histologically, the spongiotic tissue reaction pattern involves the accumulation of fluid in the intercellular spaces of the epidermis, making the desmosomes junctions more easy to appreciate. Parakeratosis forms above the areas of spongiosis. The foci of spongiosis can be microscopic to grossly identifiable clinically with vesicles or bullae. 2025-01-31T09:45:36Z human_phenotype HP:6001166 Comment: Spongiosis is present in all diseases manifesting clinically as eczema; however, there are diseases with spongiosis that do not belong to the eczema spectrum, e.g., pityriasis rosea, erysipelas or tinea. . Spongiotic dermatoses include a very large list of disorders which are best grouped under neutrophilic, eosinophilic, miliarial, follicular and pityriasiform forms of spongiosis. Spongiosis HP:6001166 Spongiosis refers to the increased intercellular edema in the epidermis resulting in the pulling away of the keratinocytes from their surrounding desmosomes. Histologically, the spongiotic tissue reaction pattern involves the accumulation of fluid in the intercellular spaces of the epidermis, making the desmosomes junctions more easy to appreciate. Parakeratosis forms above the areas of spongiosis. The foci of spongiosis can be microscopic to grossly identifiable clinically with vesicles or bullae. PMID:28237387 PMID:37445645 A congenital finding where the adrenal gland does not form it's typical triangular, Y or V shape and is instead discoid, straight or elongated in shape. It is often found incidentally on renal ultrasound and is associated with renal agenesis and other renal congenital anomalies. 2025-01-31T09:45:36Z Elongated adrenal gland Lying down adrenal gland Lying down adrenal sign Pancake adrenal gland Straight adrenal gland human_phenotype HP:6001167 Discoid adrenal gland HP:6001167 A congenital finding where the adrenal gland does not form it's typical triangular, Y or V shape and is instead discoid, straight or elongated in shape. It is often found incidentally on renal ultrasound and is associated with renal agenesis and other renal congenital anomalies. PMID:33552228 A structural abnormality in the blood vessels of the optic disc, including bleeding, tortuosity, dilation, shunting, or other unusual branching patterns. 2025-01-31T09:45:36Z human_phenotype HP:6001168 May be associated with conditions such as glaucoma, papilledema, leber optic neuropathy, or optic disc drusen, and can contribute to visual field defects or other optic neuropathies. Abnormal optic disc vasculature morphology HP:6001168 Localization of symptoms such as numbness or paresthesias on the skin over the upper chest, specifically above the clavicle and over the lateral aspect of the neck, corresponding to the distribution of the supraclavicular nerve. 2025-01-31T09:45:36Z human_phenotype HP:6001169 May be observed with clavicle shaft fracture. Supraclavicular nerve distribution HP:6001169 Difficulty rotating the lower part of the arm towards the body (tested with the elbow flexed and the elbow held next to the side of the body or shoulder 90 degrees abducted to the side) secondary to pain, weakness, or mechanical block. 2025-02-22T15:17:09Z Shoulder internal rotation limited human_phenotype HP:6001170 Conditions characterized by this finding include shoulder internal impingement syndrome, pectoralis major rupture, proximal humeral epiphysiolysis, and rotator cuff tear arthropathy. Limited shoulder internal rotation HP:6001170 An anterior posterior (AP) shoulder radiograph shows distance between the the proximal aspect of the humeral head and inferior aspect of the acromion of less than 7 mm. 2025-02-22T15:17:09Z Decreased acromiohumeral distance High-riding shoulder Proximal subluxation of the humeral head human_phenotype HP:6001171 Conditions characterized by this finding include rotator cuff tear arthropathy, rotator cuff tear, and shoulder external impingement syndrome. Superior displacement of the humeral head HP:6001171 An anterior posterior (AP) shoulder radiograph shows distance between the the proximal aspect of the humeral head and inferior aspect of the acromion of less than 7 mm. PMID:8816337 intracompartmental pressure (ICP) over 30 mmHg. Acute compartment syndrome occurs when there is increased pressure within a closed osteofascial compartment, resulting in impaired local circulation. Acute compartment syndrome is considered a surgical emergency since, without proper treatment, it can lead to ischemia and eventually necrosis. Generally, acute compartment syndrome is considered a clinical diagnosis. However, ICP over 30 mmHg can be used as a threshold to aid in diagnosis. 2025-02-22T15:17:09Z human_phenotype HP:6001172 Fascia is a thin, inelastic sheet of connective tissue that surrounds muscle compartments and limits the capacity for rapid expansion. The earliest objective physical finding is the tense, or wood-like feeling of the involved compartment. Pain is typically severe, out of proportion to the injury. Measurement of intracompartmental pressure is not required but can aid in diagnosis if uncertainty exists. Compartment pressures are often measured with a manometer, a device that detects intracompartmental pressure by measuring the resistance that is present when a saline solution is injected into the compartment. The normal pressure within the compartment is between 0 mmHg to 8 mmHg. An intra-compartmental pressure greater than 30 mmHg indicates compartment syndrome and a need for fasciotomy. Increased compartment pressure HP:6001172 intracompartmental pressure (ICP) over 30 mmHg. Acute compartment syndrome occurs when there is increased pressure within a closed osteofascial compartment, resulting in impaired local circulation. Acute compartment syndrome is considered a surgical emergency since, without proper treatment, it can lead to ischemia and eventually necrosis. Generally, acute compartment syndrome is considered a clinical diagnosis. However, ICP over 30 mmHg can be used as a threshold to aid in diagnosis. PMID:28846257 Pain localized to the radial aspect of the elbow. 2025-02-22T15:17:09Z Lateral elbow pain Radial elbow pain human_phenotype HP:6001173 Pain at the lateral aspect of the elbow HP:6001173 Pain localized to the posterior aspect of the elbow. 2025-02-22T15:17:09Z human_phenotype HP:6001174 The posterior aspect of the elbow refers to the back side of the elbow, which forms the prominent bony tip of the elbow. Pain at the posterior aspect of the elbow HP:6001174 Pain localized to the medial aspect of the elbow. 2025-02-22T15:17:09Z human_phenotype HP:6001175 The medial aspect of the elbow refers to the inner side of the elbow. Conditions characterized by this finding include medial epicondylitis. Pain at the medial aspect of the elbow HP:6001175 Applies to the localization of findings corresponding to the distribution of the radial nevrve, such as (i)paresthesias on the dorsoradial aspect of the hand and wrist, including the dorsal thumb, index finger and middle finger and (ii) Weakness in elbow extension, wrist extension, finger extension, thumb extension and/or supination of the forearm. 2025-02-22T15:17:09Z human_phenotype HP:6001176 Radial nerve distribution HP:6001176 An osseous connection between the superomedial border of the right scapula and C5-C6 spinous processes. 2025-02-22T16:02:13Z Os omovertebrale human_phenotype HP:6001177 The omovertebral bone is seen in approximately one-third of patients with Sprengel deformity. The clinical presentation of SD varies, ranging from simply limited shoulder abduction and mild cosmetic deformity to severe clinical abnormalities. Nonsurgical management is appropriate for mild cases, while severe deformities require surgery. See Figure 1 of PMID:38908946. Omovertebral bone HP:6001177 An osseous connection between the superomedial border of the right scapula and C5-C6 spinous processes. PMID:38908946 Swelling on the chest between the neck and the shoulder, above the clavicel (collar bone). 2025-02-22T16:02:13Z Clavicular swelling Edema localized around the clavicle human_phenotype HP:6001178 This condition may be observed with diseases including congenital pseudoarthrosis of clavicle and clavicle shaft fracture. Clavicular edema HP:6001178 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of measles virus. 2025-02-22T16:02:13Z Elevated measles antibody titer in cerebrospinal fluid human_phenotype HP:6001179 This finding may be observed with diseases including subacute sclerosing leukoencephalitis. Positive CSF anti-measles antibody test HP:6001179 The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of measles virus. PMID:30680706 PMID:32809508 Vertical lines in the posterior stroma of the cornea, aligned with Descemet membrane. These lines temporarily disappear with pressure applied to the cornea. Vogt striae are a hallmark feature of keratoconus but have also been observed in healthy eyes. Rare cases of horizontal striae have been reported. 2025-03-01T11:10:50Z Corneal striae Vertical stromal lines Vogt's striae human_phenotype HP:6001180 Vogt striae HP:6001180 Vertical lines in the posterior stroma of the cornea, aligned with Descemet membrane. These lines temporarily disappear with pressure applied to the cornea. Vogt striae are a hallmark feature of keratoconus but have also been observed in healthy eyes. Rare cases of horizontal striae have been reported. PMID:18700919 A condition characterized by an abnormal increase in the thickness of the choroid, which may be associated with various ocular or systemic conditions. Choroid thickening can be measured using imaging techniques such as optical coherence tomography (OCT). 2025-03-01T11:10:50Z Increased choroidal thickness Pachychoroid Thickened choroid human_phenotype HP:6001181 Choroid thickening HP:6001181 A condition characterized by an abnormal increase in the thickness of the choroid, which may be associated with various ocular or systemic conditions. Choroid thickening can be measured using imaging techniques such as optical coherence tomography (OCT). PMID:39095470 A condition characterized by accumulation of fluid within the corneal epithelium, leading to swelling, blurred vision, and discomfort. It is often associated with increased intraocular pressure, endothelial dysfunction, or contact lens overuse. Clinical features may include a hazy cornea and microcystic changes visible on slit-lamp examination. 2025-03-01T11:10:50Z Bullous keratopathy Epithelial corneal edema Epithelial corneal swelling human_phenotype HP:6001182 This finding can be observed in diseases such as Fuchs endothelial dystrophy, acute angle-closure glaucoma, and bullous keratopathy. Corneal epithelial edema HP:6001182 bnormal blood vessels in the retina that form as a response to vascular occlusion, serving as bypass channels to redirect blood flow around obstructed or damaged retinal vessels. Retinal shunt vessels are often associated with conditions like retinal vein occlusion or diabetic retinopathy and may appear as tortuous or dilated vessels on fundoscopic examination. 2025-03-01T11:10:50Z Retinal collateral vessels human_phenotype HP:6001183 See Figure 12 of PMID:37238303. Retinal shunt vessels HP:6001183 bnormal blood vessels in the retina that form as a response to vascular occlusion, serving as bypass channels to redirect blood flow around obstructed or damaged retinal vessels. Retinal shunt vessels are often associated with conditions like retinal vein occlusion or diabetic retinopathy and may appear as tortuous or dilated vessels on fundoscopic examination. PMID:37238303 A condition characterized by the formation of filaments composed of degenerated epithelial cells and mucus attached to the corneal surface. It is associated with symptoms such as pain, foreign body sensation, photophobia, and tearing. Filamentary keratitis is often linked to underlying conditions such as dry eye disease, post-surgical ocular surface disorders, or systemic diseases like Sjoegren syndrome. 2025-03-01T11:10:50Z human_phenotype HP:6001184 Filamentary keratitis HP:6001184 A condition characterized by the formation of filaments composed of degenerated epithelial cells and mucus attached to the corneal surface. It is associated with symptoms such as pain, foreign body sensation, photophobia, and tearing. Filamentary keratitis is often linked to underlying conditions such as dry eye disease, post-surgical ocular surface disorders, or systemic diseases like Sjoegren syndrome. PMID:38857689 Concentration of D-glucosylsphingosine in the blood circulation above the upper limit of normal. 2025-03-01T11:10:50Z human_phenotype HP:6001185 Glucosylsphingosine (GlcSph) is a key biomarker of Gaucher Disease. Elevated circulating glucosylsphingosine concentration HP:6001185 Concentration of D-glucosylsphingosine in the blood circulation above the upper limit of normal. PMID:39881421 A condition characterized by bleeding at or near the optic disc, visible as a flame-shaped or splinter hemorrhage on fundoscopic examination. 2025-03-01T11:10:50Z Optic disc bleeding human_phenotype HP:6001186 Optic disc bleeding is a significant clinical marker in glaucoma, particularly normal-tension glaucoma, and is associated with disease progression. It may result from mechanical stress on the lamina cribrosa or vascular dysregulation. Optic disc hemorrhage HP:6001186 A condition characterized by bleeding at or near the optic disc, visible as a flame-shaped or splinter hemorrhage on fundoscopic examination. PMID:29217027 The concentration of progranulin in the blood circulation is below the lower limit of normal. 2025-03-01T11:10:50Z Decreased circulating progranulin concentration Decreased progranulin concentration Decreased progranulin level Decreased progranulin level in blood Reduced progranulin concentration Reduced progranulin level Reduced progranulin level in blood human_phenotype HP:6001187 Progranulin, a secreted glycoprotein, maintains cerebrocortical viability. It has been identified as an important factor controlling neural function while also suppressing neuroinflammation and playing roles in neuronal lysosome function. Loss of one allele of GRN, the gene encoding progranulin, leads to the development of frontotemporal dementia, and loss of both alleles leads to the development of neuronal ceroid lipofuscinosis. Decreased circulating progranulin concentration HP:6001187 Enlargement of one or more lymph nodes located in front of the ear. 2025-03-01T11:10:50Z human_phenotype HP:6001188 Preauricular lymphadenopathy HP:6001188 Enlargement of one or more lymph nodes located in front of the ear. PMID:32313895 Growth of nail tissue outside the ungual plate, generally in the finger. 2025-03-01T11:10:50Z Ectopic fingernail human_phenotype HP:6001189 Onychoheterotopia HP:6001189 Growth of nail tissue outside the ungual plate, generally in the finger. PMID:23716811 PMID:39641441 A deviation from the normal level of major histocompatibility complex (MHC) molecules expressed at the cell surface. The cell-mediated adaptive immune response is regulated by the MHC, which is called human leukocyte antigen (HLA) in humans. HLA molecules are cell surface glycoproteins whose primary function is to present endogenous and exogenous antigens to T lymphocytes for recognition and response. The HLA molecules that present antigen to T lymphocytes are divided into two main classes: HLA class I and HLA class II molecules. 2025-03-01T11:10:50Z human_phenotype HP:6001190 Abnormal MHC surface expression HP:6001190 Flexion MRI (imaging with neutral and flexed about 30-40 degrees neck position) reveals an anterior shift of the cervical dural sac from the lamina in the region of C4 to C7. 2025-03-01T11:10:50Z human_phenotype HP:6001191 This finding is characteristic of Monomelic amyotrophy (Hirayama disease) is a rare motor neuron disorder characterized by progressive weakness and atrophy in the distal upper extremities, typically beginning during adolescence. The condition involves asymmetric muscle atrophy in the hand and forearm, sparing the brachioradialis muscle, and is attributed to increased laxity in the dura mater, which causes the spinal cord to shift forward during neck flexion. Increased laxity of the dura mater from its superior anchors on the dorsal surfaces of C2 and C3, harbingering forward cord movement during cervical flexion. Increased laxity allows the spinal cord to shift forward, leading to repeated subclinical trauma and microischemia in the anterior horn during cervical flexion. Trauma and microischemia eventually lead to myelopathy and degeneration, as evidenced by asymmetric lower cervical cord thinning within the C7 and C8. Forward displacement of posterior cervical dura mater on neck flexion HP:6001191 Flexion MRI (imaging with neutral and flexed about 30-40 degrees neck position) reveals an anterior shift of the cervical dural sac from the lamina in the region of C4 to C7. PMID:29763088 PMID:36475209 A localized area of corneal thinning typically occurring adjacent to an elevated lesion, such as a conjunctival scar, pterygium, or poorly fitting contact lens. Corneal dellen result from tear film instability and localized dehydration. Without timely treatment, they may progress to epithelial defects or corneal ulceration. 2025-03-01T11:10:50Z Corneal stromal dellen Localized corneal thinning human_phenotype HP:6001192 Diseases characterized by this finding include corneal pterygium, corneal ulceration, and post-surgical ocular surface disorder. Corneal dellen HP:6001192 A localized area of corneal thinning typically occurring adjacent to an elevated lesion, such as a conjunctival scar, pterygium, or poorly fitting contact lens. Corneal dellen result from tear film instability and localized dehydration. Without timely treatment, they may progress to epithelial defects or corneal ulceration. PMID:32596070 A condition characterized by dryness of the conjunctiva, often associated with keratinization of the conjunctival epithelium. Conjunctival xerosis is commonly linked to vitamin A deficiency, severe dry eye disease, or systemic conditions such as Sjogren syndrome. Clinical features may include a dull, rough conjunctival surface and reduced mucosal secretions. 2025-03-01T11:10:50Z Conjunctival dryness Dry conjunctiva human_phenotype HP:6001193 Diseases characterized by this term include vitamin A deficiency, Sjogren syndrome, and Stevens-Johnson syndrome. Conjunctival xerosis HP:6001193 A condition characterized by dryness of the conjunctiva, often associated with keratinization of the conjunctival epithelium. Conjunctival xerosis is commonly linked to vitamin A deficiency, severe dry eye disease, or systemic conditions such as Sjogren syndrome. Clinical features may include a dull, rough conjunctival surface and reduced mucosal secretions. PMID:28939634 Difficulty rotating the lower part of the arm away from the body (tested with the elbow flexed and the elbow held next to the side of the body) secondary to pain, weakness, or mechanical block. 2025-03-01T11:10:50Z Shoulder external rotation limited human_phenotype HP:6001194 Diseases characterized by this finding include rotator cuff tear. Limited shoulder external rotation HP:6001194 A history of exposure to repeated hand trauma as observed with occupations in which use of hands is frequent such as construction, food preparation and serving related occupations, and transportation and material moving occupations. 2025-03-01T12:03:43Z human_phenotype HP:6001195 Occupational exposure to frequent hand trauma HP:6001195 An inability to fully extend the metacarpophalangeal (MCP) joint of a finger (extension of an MCP joint straightens the finger). 2025-03-01T12:03:43Z Inability to fully extend finger at MCP joint Inability to fully extend finger from base human_phenotype HP:6001196 Inability to fully extend finger at metacarpophalangeal joint HP:6001196 An inability to fully extend the metacarpophalangeal (MCP) joint of a finger (extension of an MCP joint straightens the finger). PMID:39345665 Inflammation of the wrist joint. 2025-03-01T12:03:43Z human_phenotype HP:6001197 Symptoms of arthritis include pain, swelling, redness, stiffness, and loss of motion of the involved joint. Three primary types of arthritis affect the human wrist: osteoarthritis, rheumatoid arthritis, and post-traumatic arthritis. Wrist arthritis HP:6001197 Inflammation of the wrist joint. PMID:30285392 Widening of the space between the scaphoid and lunate on x-ray; scapholunate dissociation. 2025-03-01T12:03:43Z Terry-Thomas sign human_phenotype HP:6001198 Scapholunate interval widening HP:6001198 Widening of the space between the scaphoid and lunate on x-ray; scapholunate dissociation. PMID:608295 Applies to an abnormality whose distribution is limited to or predominantly affects the fleshy mass on the volar (palmar) aspect of the digit, distal to the distal interphalangeal (DIP) joint (known as the pulp of the finger). 2025-03-01T12:03:43Z Symptoms localized to pulp of the finger human_phenotype HP:6001199 FInger pulp localization HP:6001199 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ulnar side of the wrist. 2025-03-01T12:03:43Z human_phenotype HP:6001200 The ulnar side of the wrist is the side of the wrist closest to the little finger (fifth finger, pinky). Conditions characterized by this term include triangular fibrocartilage complex, distal radioulnar joint (DRUJ) arthritis, and pisotriquetral (PT) osteoarthritis. Ulnar wrist pain HP:6001200 Radiographic widening of the space between the lunate and triquetrum bones. 2025-03-01T12:03:43Z human_phenotype HP:6001201 This finding may be observed with lunotriquetral ligament injury. Lunotriquetral interval widening HP:6001201 Anteroposterior wrist radiograph showing ulnar translocation of the carpus from the distal radius with widening of the radial styloid-scaphoid space. 2025-03-01T12:03:43Z human_phenotype HP:6001202 This finding may be observed with Carpal instability nondissociative (CIND). Ulnar translocation of the carpus HP:6001202 Anteroposterior wrist radiograph showing ulnar translocation of the carpus from the distal radius with widening of the radial styloid-scaphoid space. PMID:35415594 A popping or snapping sensation (noise or feeling) at the time of an injury. 2025-03-08T14:14:35Z human_phenotype HP:6001203 Sudden snapping or popping at the time of an injury can be a sign of significant damage to muscles, tendons, ligaments, or bones. Snapping sensation at time of injury HP:6001203 Pagetoid spread connotes the spread of single neoplastic cells, and small nests of them above the basal layer in a variety of melanocytic and nonmelanocytic neoplasms similar to the pattern seen in Paget's and in extramammary Paget disease. 2025-03-08T14:14:35Z human_phenotype HP:6001204 Pagetoid proliferation of single melanocytic cells or small nests of melanocytes may be seen in a variety of melanocytic neoplasms including pagetoid spitz nevi, de novo epithelioid melanocytic dysplasia, and melanoma. Pagetoid melanocytosis may also be a common feature of acral nevi, traumatized nevi, or in nevi after acute sun exposure. Pagetoid spread HP:6001204 Pagetoid spread connotes the spread of single neoplastic cells, and small nests of them above the basal layer in a variety of melanocytic and nonmelanocytic neoplasms similar to the pattern seen in Paget's and in extramammary Paget disease. PMID:20431478 Central scarring of skin lesions. 2025-03-08T14:14:35Z human_phenotype HP:6001205 Central scarring HP:6001205 Central scarring of skin lesions. PMID:29261968 PMID:36911588 A breakage (partial or complete tear) of the scapholunate ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Tear of the scapholunate ligament may lead to carpal instability. 2025-03-09T08:44:00Z Scapholunate ligament injury human_phenotype Scapholunate ligament rupture HP:6001206 Together with the lunotriquetral interosseous ligament, the scapholunate ligament is one of the two proximal interosseous carpal ligaments of the wrist. It is a C-shaped ligament that binds the scaphoid bone to the lunate bone of the wrist. A scapholunate tear can be partial or complete. Since it is C-shaped, it often is only one limb of the C that is torn. Scapholunate ligament tear HP:6001206 A breakage (partial or complete tear) of the scapholunate ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Tear of the scapholunate ligament may lead to carpal instability. PMID:32684689 PMID:38817761 A breakage (partial or complete tear) of the lunotriquetral ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Rupture or tear of the the lunotriquetral ligament may lead to carpal instability. 2025-03-09T08:44:00Z human_phenotype HP:6001207 The scapholunate and lunotriquetral interosseous ligaments form the interconnections between the bones of the proximal carpal row and share several anatomic features. Each forms a barrier between the radiocarpal and midcarpal joints, connecting the dorsal, proximal, and palmar edges of the respective joint surfaces. Lunotriquetral ligament tear HP:6001207 A breakage (partial or complete tear) of the lunotriquetral ligament. The most common cause is physical trauma to the wrist such as a fall onto an outstretched hand. Rupture or tear of the the lunotriquetral ligament may lead to carpal instability. PMID:36689137 Arthritis at the pisotriquetral joint. Radiographic evidence of arthritis at the pisotriquetral joint includes joint space narrowing, osteophytes, subchondral cysts, and/or subchondral sclerosis. 2025-03-09T08:44:00Z human_phenotype HP:6001208 Pisotriquetral arthritis HP:6001208 Arthritis at the pisotriquetral joint. Radiographic evidence of arthritis at the pisotriquetral joint includes joint space narrowing, osteophytes, subchondral cysts, and/or subchondral sclerosis. PMID:27777815 A type of carpal instability characterized by volar tilt of the lunate bone. 2025-03-09T08:44:00Z human_phenotype HP:6001209 Lateral wrist radiograph showing volar flexion of the lunate with a scapholunate angle less than 30 degrees. This finding may be observed with conditions such as lunotriquetral ligament injury and carpal instability nondissociative. Volar intercalated segment instability HP:6001209 A type of carpal instability characterized by volar tilt of the lunate bone. PMID:32491661 Any substantial discrepancy between the measurement of oxygen saturation with finger probe pulse oximetry as compared to an arterial blood gas, which is considered the gold standard. 2025-03-09T11:22:14Z human_phenotype HP:6001210 Pulse oximetry is an useful, readily available and non-invasive tool of measuring oxygen saturation. It uses light sensors containing two light sources of different wavelengths, that are absorbed by haemoglobin (both oxy and deoxy forms) and transmitted through tissues to a photodetector. Any discrepancy in the light transmission caused either by vascular abnormality of the fingers or anatomical change may lead to inaccurate or absence of reading in the pulse oximeter. Inaccurate finger pulse oximetry oxygen saturation measurement HP:6001210 Any substantial discrepancy between the measurement of oxygen saturation with finger probe pulse oximetry as compared to an arterial blood gas, which is considered the gold standard. PMID:34652479 Inaccurately reduced oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis. 2025-03-09T11:22:14Z human_phenotype HP:6001211 This feature may be observed with conditions such as Raynaud phenomenon and scleroderma, in which peripheral microvasculopathy leads to poor perfusion of the fingers. Finger pulse oximetry lower than arterial blood gas analysis measurement of oxygen saturation HP:6001211 Inaccurately reduced oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis. PMID:38340159 Inaccurately elevated oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis. 2025-03-09T11:22:14Z human_phenotype HP:6001212 This feature may be observed with Carbon monoxide poisoning. Presently available pulse oximeters overestimate arterial oxygenation in patients with severe CO poisoning. An elevated COHb level falsely elevates the SaO2 measurements from pulse oximetry. Finger pulse oximetry higher than arterial blood gas analysis measurement of oxygen saturation HP:6001212 Inaccurately elevated oxygen saturation as measured by finger or toe pulse oximetry compared to oxygen saturation as measured by venous or arterial blood gas analysis. PMID:9792574 Thumb sucking is a behavior that ceases spontaneously in most children between 2 and 4 years of age. If thumb sucking continues, negative consequences can occur, such as a deformity of the nail or paronychia. This term refers to a history of habitual thumb sucking past the age of 4 years of life. 2025-03-09T11:22:14Z human_phenotype HP:6001213 History of thumb sucking past the age of four years HP:6001213 Thumb sucking is a behavior that ceases spontaneously in most children between 2 and 4 years of age. If thumb sucking continues, negative consequences can occur, such as a deformity of the nail or paronychia. This term refers to a history of habitual thumb sucking past the age of 4 years of life. PMID:32310572 Skin inflammatory reaction triggered by a wide variety of stimuli, including infections, foreign bodies, malignancy, metabolites, and chemicals. From a pathogenic point of view, they are divided into non-infectious and infectious granulomas. From a clinical point of view, it is useful to divide cutaneous granulomatosis into localized and more disseminated forms, although this distinction can be sometimes artificial. 2025-03-09T11:22:14Z human_phenotype HP:6001214 Cutaneous granulomatosis HP:6001214 Skin inflammatory reaction triggered by a wide variety of stimuli, including infections, foreign bodies, malignancy, metabolites, and chemicals. From a pathogenic point of view, they are divided into non-infectious and infectious granulomas. From a clinical point of view, it is useful to divide cutaneous granulomatosis into localized and more disseminated forms, although this distinction can be sometimes artificial. PMID:29352388 Obstruction of urine flow through one or both ureters caused by issues such as injury, infection, tumours and surgery. 2025-03-09T11:22:14Z human_phenotype HP:6001215 Ureteric stricture HP:6001215 Obstruction of urine flow through one or both ureters caused by issues such as injury, infection, tumours and surgery. PMID:25100183 A retinal vascular abnormality characterized by indentation or compression of a retinal vein at an arteriovenous crossing, leading to changes in venous caliber. AV crossing signs are commonly associated with hypertensive retinopathy and may contribute to retinal vein occlusion. They are indicative of vascular remodeling due to chronic hypertension or other systemic vascular diseases. 2025-04-26T13:13:44Z AV crossing changes AV nicking Arteriovenous nicking Gunn sign human_phenotype HP:6001216 This feature may be present in diseases such as hypertensive retinopathy and retinal vein occlusion. Arteriovenous crossing sign HP:6001216 Curvilinear or circumferential breaks in Descemet membrane, typically associated with congenital glaucoma. Haab striae result from elevated intraocular pressure during corneal development, leading to the formation of horizontal or arcuate lines that may be visible on slit-lamp examination. They can contribute to corneal astigmatism and visual impairment. 2025-04-26T13:13:44Z Haab's striae human_phenotype HP:6001217 Haab striae HP:6001217 Curvilinear or circumferential breaks in Descemet membrane, typically associated with congenital glaucoma. Haab striae result from elevated intraocular pressure during corneal development, leading to the formation of horizontal or arcuate lines that may be visible on slit-lamp examination. They can contribute to corneal astigmatism and visual impairment. PMID:27993263 PMID:30554872 Growth of Legionella bacteria in a sputum culture. 2025-04-26T13:13:44Z human_phenotype HP:6001218 Positive Legionella sputum culture HP:6001218 Growth of Legionella bacteria in a sputum culture. PMID:38501659 Streptococcus pneumoniae growth in sputum culture. 2025-04-26T13:13:44Z human_phenotype HP:6001219 Positive Streptococcus pneumoniae sputum culture HP:6001219 Streptococcus pneumoniae growth in sputum culture. PMID:24475349 Demonstration of Blastomyces dermatitidis by microscopic examination of a stained sputum specimen. 2025-04-26T13:13:44Z Blastomyces dermatitidis on sputum fungal stain human_phenotype HP:6001220 Blastomycosis is a fungal infection caused by Blastomyces dermatitidis. It presents as a pulmonary infection after the inhalation of spores, and it may be either asymptomatic or have severe life-threatening complications like acute respiratory distress syndrome. Positive Blastomyces dermatitidis sputum fungal stain HP:6001220 Demonstration of Blastomyces dermatitidis by microscopic examination of a stained sputum specimen. PMID:28723016 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the posterior (back) part of the shoulder. 2025-04-26T13:13:44Z human_phenotype HP:6001221 Posterior shoulder pain may be observed in conditions such as shoulder internal impingement syndrome, suprascapular neuropathy, labrum tear, and shoulder dislocation. Posterior shoulder pain HP:6001221 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the superior or proximal aspect of the shoulder over the acromion, distal clavicle, and/or acromioclavicular (AC) joint. 2025-04-26T13:13:44Z human_phenotype HP:6001222 Superior shoulder pain may be observed in conditions such as acromioclavicular joint injury, acromioclavicular joint osteoarthritis, and distal clavicle osteolysis. Superior shoulder pain HP:6001222 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the localized aspect (on the side) of the shoulder. 2025-04-26T13:13:44Z human_phenotype HP:6001223 Lateral shoulder pain may be observed in conditions such as proximal humerus fracture, proximal humeral epiphysiolysis, adhesive capsulitis, and suprascapular neuropathy. Lateral shoulder pain HP:6001223 Subjective or objective feeling of clunking/clicking in the shoulder with movement, shoulder 'giving way', or sensation of shoulder dislocating. 2025-04-26T13:13:44Z human_phenotype HP:6001224 Shoulder instability may be observed in conditions such as shoulder dislocation, labrum tear, and suprascapular neuropathy. Shoulder instability HP:6001224 A injury with a team (rip, split, or disruption) to the labrum, which is the ring of cartilage that surrounds the socket of the shoulder joint (the glenoid). 2025-04-26T13:13:44Z Glenoid labral tear Labral tear in the shoulder human_phenotype HP:6001225 Shoulder labral tears can be classified as superior Labral Anterior Posterior tear (SLAP); bankart lesion; anterior labral periosteal sleeve avulsion (ALPSA); and glenoid labral articular defect (GLAD) and may be observed in conditions such as shoulder dislocation, shoulder internal impingement syndrome, and acromioclavicular joint injury. Shoulder labrum tear HP:6001225 Sensation of a pain with or without clicking or clunking sensation with the following test. Flex patients elbow to 90 degrees and abduct the arm 120 degrees while maximally externally rotating the arm, then examiner lowers the arm to 60 degrees of abduction. A positive test occurs with pain and/or a painful click along the posterior joint line between 120 degrees and 90 degrees of abduction. 2025-04-26T13:13:44Z human_phenotype HP:6001226 This test is frequently positive with labrum tear of the shoulder. Positive modified dynamic labral shear test HP:6001226 Sensation of a pain with or without clicking or clunking sensation with the following test. Flex patients elbow to 90 degrees and abduct the arm 120 degrees while maximally externally rotating the arm, then examiner lowers the arm to 60 degrees of abduction. A positive test occurs with pain and/or a painful click along the posterior joint line between 120 degrees and 90 degrees of abduction. PMID:19509414 Pain in shoulder reproduced when examiner applies downward pressure on the arm while patient resists pressure in the following position: elbow extended, shoulder forward flexed to 90 degrees and 10-15 degrees adducted with palm facing down. This can be compared to the same position but with the palm facing up which should be less painful. 2025-04-26T13:13:44Z human_phenotype HP:6001227 A positive test may be observed in conditions such as acromioclavicular joint injury, shoulder labrum tear, adhesive capsulitis, and biceps subluxation. Positive O'Brien active compression test HP:6001227 Pain in shoulder reproduced when examiner applies downward pressure on the arm while patient resists pressure in the following position: elbow extended, shoulder forward flexed to 90 degrees and 10-15 degrees adducted with palm facing down. This can be compared to the same position but with the palm facing up which should be less painful. PMID:17936025 The individual being investigated displays noticeable apprehension (unease) during a test for shoulder instability in which the individual is laying supine with shoulder abducted to 90 degrees, elbow flexed to 90 degrees, and an external rotation pressure with combined downward pressure is applied on the upper arm. 2025-04-26T13:13:44Z human_phenotype HP:6001228 Positive shoulder apprehension test HP:6001228 The individual being investigated displays noticeable apprehension (unease) during a test for shoulder instability in which the individual is laying supine with shoulder abducted to 90 degrees, elbow flexed to 90 degrees, and an external rotation pressure with combined downward pressure is applied on the upper arm. PMID:14977651 A condition characterized by the presence of foam or bubbles within the tear film, often associated with meibomian gland dysfunction or ocular surface diseases. 2025-04-26T14:44:10Z Frothy tear film Tear bubbles Tear foam human_phenotype HP:6001229 This feature may be observed in conditions such as Meibomian gland dysfunction and blepharitis. Foamy tear film HP:6001229 A condition characterized by the presence of foam or bubbles within the tear film, often associated with meibomian gland dysfunction or ocular surface diseases. PMID:35508212 The formation of large, bluish, nodular lesions in the superficial corneal stroma, often associated with chronic keratitis or aging. These nodules may lead to visual impairment. 2025-04-26T14:44:10Z Salzmann nodular corneal degeneration Salzmann nodular corneal dystrophy Salzmann's nodules human_phenotype HP:6001230 Salzmann corneal nodules HP:6001230 The formation of large, bluish, nodular lesions in the superficial corneal stroma, often associated with chronic keratitis or aging. These nodules may lead to visual impairment. PMID:22228492 The abnormal growth of blood vessels into the corneal stroma, often associated with ocular herpes, chronic inflammation, infection, or hypoxia. This condition can lead to corneal scarring and vision impairment. 2025-04-26T14:44:10Z Corneal stromal neovascularization Stromal vascularization of the cornea human_phenotype HP:6001231 This feature may be observed in herpetic eye disease. Corneal stromal vascularisation HP:6001231 Linear or arcuate deposition of iron within the corneal epithelium or stroma, typically associated with conditions such as keratoconus, corneal degeneration, or postsurgical corneal changes. 2025-04-26T14:44:10Z human_phenotype HP:6001232 Corneal iron line HP:6001232 Linear or arcuate deposition of iron within the corneal epithelium or stroma, typically associated with conditions such as keratoconus, corneal degeneration, or postsurgical corneal changes. PMID:21599747 A condition characterized by redundant, loose conjunctival tissue, typically located between the globe and the lower eyelid, which may cause ocular discomfort, tear film instability, or epiphora. 2025-04-26T14:44:10Z human_phenotype HP:6001233 Conjunctivochalasis can be observed with conditions such as dry eye and floppy eyelid syndrome. Conjunctivochalasis HP:6001233 Increased pigmentation of the conjunctiva, characterized by brown or black discoloration due to melanocytic proliferation or pigment deposition. It may be associated with benign conditions such as primary acquired melanosis or malignant transformation into conjunctival melanoma. 2025-04-26T14:44:10Z Conjunctival melanosis Hyperpigmentation of the conjunctiva Pigmented conjunctiva human_phenotype HP:6001234 Conjunctival hyperpigmentation HP:6001234 Increased pigmentation of the conjunctiva, characterized by brown or black discoloration due to melanocytic proliferation or pigment deposition. It may be associated with benign conditions such as primary acquired melanosis or malignant transformation into conjunctival melanoma. PMID:34424954 Antibodies against antigens presented by the cell wall of the yeast Saccharomyces cerevisiae. 2025-04-26T14:44:10Z ASCA human_phenotype HP:6001235 Anti-Saccharomyces cerevisiae antibodies (ASCAs) have been used as a marker for Crohn disease, Behcet disease, celiac disease, and other conditions. Anti-Saccharomyces cerevisiae antibodies HP:6001235 Antibodies against antigens presented by the cell wall of the yeast Saccharomyces cerevisiae. PMID:3143445 The fractional exhaled nitric oxide (FeNO) is elevated above the upper limit of normal. FeNO is an endogenous gaseous molecule which can be measured in the human breath test because of airway inflammation. It has been studied extensively as a marker of inflammation and has been incorporated into an algorithm for asthma management. 2025-04-26T14:44:10Z Fraction exhaled nitric oxide elevated human_phenotype HP:6001236 Fractional exhaled nitric oxide (FeNO) is a simple, reproducible, and a noninvasive marker of inflammation that may be elevated in diseases such as ssthma, eosinophilic pneumonia, COPD, pulmonary fibrosis, and interstitial lung disease. Elevated fraction exhaled nitric oxide HP:6001236 The fractional exhaled nitric oxide (FeNO) is elevated above the upper limit of normal. FeNO is an endogenous gaseous molecule which can be measured in the human breath test because of airway inflammation. It has been studied extensively as a marker of inflammation and has been incorporated into an algorithm for asthma management. PMID:31417809 A condition characterized by increased blood flow and congestion of the iris vasculature, leading to a reddish discoloration of the iris. Iris hyperemia is commonly associated with anterior uveitis, angle-closure glaucoma, or ocular inflammation. 2025-04-28T10:05:19Z Congested iris vessels Increased iris vascularity Iris hyperaemia human_phenotype HP:6001237 Iris hyperemia HP:6001237 Iris hyperaemia The number of reticulated platelets per volume of blood in the peripheral circulation is above the upper limit of normal. 2025-05-03T09:32:30Z human_phenotype HP:6001238 Reticulated platelets (RPs) are young, hyper-reactive platelets that are newly released from the bone marrow. RPs are thus immature platelets circulating in blood; they reflect the activity of megakaryopoiesis in the bone marrow.They are larger and contain more RNA compared to older platelets. In comparison to more mature platelets, they exhibit a significantly higher thrombogenicity and are known to be elevated in patients with an increased platelet turnover such as, diabetics and after acute myocardial infarction. Elevated circulating reticulated platelet count HP:6001238 The number of reticulated platelets per volume of blood in the peripheral circulation is above the upper limit of normal. PMID:24807169 The number of reticulated platelets per volume of blood in the peripheral circulation is below the lower limit of normal. 2025-05-03T09:32:30Z Decreased immature platelet fraction human_phenotype HP:6001239 Reticulated platelets (RPs) are young, hyper-reactive platelets that are newly released from the bone marrow. RPs are thus immature platelets circulating in blood; they reflect the activity of megakaryopoiesis in the bone marrow.They are larger and contain more RNA compared to older platelets. In comparison to more mature platelets, they exhibit a significantly higher thrombogenicity and are known to be elevated in patients with an increased platelet turnover such as, diabetics and after acute myocardial infarction. Reduced circulating reticulated platelet count HP:6001239 The number of reticulated platelets per volume of blood in the peripheral circulation is below the lower limit of normal. PMID:24807169 The number of reticulated platelets per volume of blood in the peripheral circulation is outside the limits of normal. 2025-05-03T09:32:30Z human_phenotype HP:6001240 Reticulated platelets (RPs) are young, hyper-reactive platelets that are newly released from the bone marrow. RPs are thus immature platelets circulating in blood; they reflect the activity of megakaryopoiesis in the bone marrow.They are larger and contain more RNA compared to older platelets. In comparison to more mature platelets, they exhibit a significantly higher thrombogenicity and are known to be elevated in patients with an increased platelet turnover such as, diabetics and after acute myocardial infarction. Abnormal circulating reticulated platelet count HP:6001240 The number of reticulated platelets per volume of blood in the peripheral circulation is outside the limits of normal. PMID:24807169 A sign that can be observed in diseases such as Pyogenic or suppurative flexor tenosynovitis in which the affected finger is held in a flexed position. Often, there is pain on any attempt at passive finger extension. This finding is to be distinguished from a contracture of a finger joint in which the flexed positions is fixed. 2025-05-03T09:32:30Z human_phenotype HP:6001241 This finding is one of the four Kanavel signs for pyogenic flexor tenosynovitis: (i) flexed posturing of the involved digit; (ii) tenderness to palpation over the tendon sheath; (iii) marked pain with passive extension of the digit; and (iv) fusiform swelling of the digit. Flexed posturing of finger HP:6001241 A sign that can be observed in diseases such as Pyogenic or suppurative flexor tenosynovitis in which the affected finger is held in a flexed position. Often, there is pain on any attempt at passive finger extension. This finding is to be distinguished from a contracture of a finger joint in which the flexed positions is fixed. PMID:35015439 Elevation of the the alpha-defensin concentration in synovial aspirate is above the upper limit of normal. The alpha-defensin test is a qualitative immunoassay optimized and validated for synovial fluid. The alpha-defensin protein is an antimicrobial peptide that is naturally released by neutrophils responding to a pathogen in the synovial fluid. 2025-05-03T09:32:30Z human_phenotype HP:6001242 The alpha-defensin test has been previously demonstrated to be highly accurate in the diagnosis of prosthetic joint infection. Positive synovial fluid alpha-defensin HP:6001242 Elevation of the the alpha-defensin concentration in synovial aspirate is above the upper limit of normal. The alpha-defensin test is a qualitative immunoassay optimized and validated for synovial fluid. The alpha-defensin protein is an antimicrobial peptide that is naturally released by neutrophils responding to a pathogen in the synovial fluid. PMID:25631170 Salter-Harris fractures (physeal fractures) refer to fractures through a growth plate (physis) and are, therefore, specifically applied to bone fractures in children. 2025-05-03T09:32:30Z human_phenotype HP:6001243 Physeal fracture HP:6001243 Salter-Harris fractures (physeal fractures) refer to fractures through a growth plate (physis) and are, therefore, specifically applied to bone fractures in children. PMID:28613461 A type of physeal (Salter-Harris) fracture in which the fracture line extends through the physis or within the growth plate. Type I fractures are due to the longitudinal force applied through the physis, which splits the epiphysis from the metaphysis. 2025-05-03T09:32:30Z Slipped physeal fracture Type I Salter-Harris fracture human_phenotype HP:6001244 Beware that a normal radiograph cannot exclude a physis injury in a symptomatic pediatric patient. A radiograph may be normal due to lack of bony involvement, and mild to moderate soft tissue swelling may be noted. Look for the widening of the physis or displacement of the epiphysis, which may suggest a fracture. Diagnosis is based on clinical findings, such as the presence of focal tenderness or swelling surrounding the growth plate. Salter I fracture HP:6001244 A type of physeal (Salter-Harris) fracture in which the fracture line extends through the physis or within the growth plate. Type I fractures are due to the longitudinal force applied through the physis, which splits the epiphysis from the metaphysis. PMID:28613461 A type of physeal (Salter-Harris) fracture in which the fracture extends through both the physis and metaphysis. These are most common and occur away from the joint space. When the small corner of the metaphysis is visible, this is known as a corner sign or Thurston-Holland fragment. 2025-05-03T09:32:30Z Type II Salter-Harris fracture human_phenotype HP:6001245 Salter II fracture HP:6001245 A type of physeal (Salter-Harris) fracture in which the fracture extends through both the physis and metaphysis. These are most common and occur away from the joint space. When the small corner of the metaphysis is visible, this is known as a corner sign or Thurston-Holland fragment. PMID:28613461 A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and extends from the physis into the epiphysis. 2025-05-03T09:32:30Z Type III Salter-Harris fracture human_phenotype HP:6001246 If the fracture extends the complete length of the physis, this type of fracture may form two epiphyseal segments. Since the epiphysis is involved, damage to the articular cartilage may occur. One example is a Tillaux fracture of the ankle, which is a fracture of the anterolateral aspect of the growth plate and epiphysis. Salter III fracture HP:6001246 A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and extends from the physis into the epiphysis. PMID:28613461 A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and passes through the epiphysis, physis, and metaphysis. 2025-05-03T09:32:30Z Type IV Salter-Harris fracture human_phenotype HP:6001247 As this fracture involves the epiphysis, the articular cartilage may be damaged. Types III and IV fractures each carry a risk for growth retardation, altered joint mechanics, and functional impairment. Therefore, both require urgent orthopedic evaluation. Salter IV fracture HP:6001247 A type of physeal (Salter-Harris) fracture in which the fracture is intra-articular and passes through the epiphysis, physis, and metaphysis. PMID:28613461 A type of physeal (Salter-Harris) fracture that is due to a crush or compression injury of the growth plate. In type V, the force is transmitted through the epiphysis and physis, potentially disrupting the germinal matrix, hypertrophic region, and vascular supply. 2025-05-03T09:32:30Z Type V Salter-Harris fracture human_phenotype HP:6001248 Though Harris-Salter V fractures are very rare, they may be seen in electric shock, frostbite, and irradiation cases. As this fracture pattern tends to result from severe injury, these typically have a poor prognosis leading to bone growth arrest. Salter V fracture HP:6001248 A type of physeal (Salter-Harris) fracture that is due to a crush or compression injury of the growth plate. In type V, the force is transmitted through the epiphysis and physis, potentially disrupting the germinal matrix, hypertrophic region, and vascular supply. PMID:28613461 A cut or injury to the soft tissue under the fingernail or toenail. 2025-05-03T09:32:30Z human_phenotype HP:6001249 Nail bed laceration HP:6001249 A cut or injury to the soft tissue under the fingernail or toenail. PMID:34633779 Recent or remote history of distal radius fracture of the symptomatic arm. 2025-05-03T09:32:30Z human_phenotype HP:6001250 This finding refers to a medical history of distal radius fracture in the arm that is the focus of current medical attention. This finding may relate to scapholunate advanced collapse, distal radioulnar joint arthritis, and scapholunate ligament injury. History of distal radius fracture HP:6001250 Recent or remote history of a tear in the triangular fibrocartilage complex (TFCC). The TFCC is a load-bearing structure between the lunate, triquetrum, and ulnar head. The function of the TFCC is to act as a stabilizer for the ulnar aspect of the wrist. The TFCC is at risk for either acute or chronic degenerative injury. 2025-05-03T09:32:30Z History of TFCC tear human_phenotype HP:6001251 Such a history is important for the diagnosis of Distal radioulnar joint (DRUJ) arthritis. History of triangular fibrocartilage complex tear HP:6001251 Recent or remote history of a tear in the triangular fibrocartilage complex (TFCC). The TFCC is a load-bearing structure between the lunate, triquetrum, and ulnar head. The function of the TFCC is to act as a stabilizer for the ulnar aspect of the wrist. The TFCC is at risk for either acute or chronic degenerative injury. PMID:30725740 The creases (wrinkles) on the soles of the feet are less pronounced than normal, or absent. 2025-05-03T09:32:30Z human_phenotype HP:6001252 This finding may be seen in premature infants and in some conditions such as GFRA1-related Apert syndrome, renal hypodysplasia/aplasia 4, and Atelis syndrome 2. Reduced plantar creases HP:6001252 The creases (wrinkles) on the soles of the feet are less pronounced than normal, or absent. PMID:6869501 Damage to the skin and underlying tissues caused by an agents such as heat, chemicals, electricity, radiation, or friction, resulting in pain, redness, swelling, and sometimes blisters or charring. 2025-05-03T09:32:30Z human_phenotype HP:6001253 This term does not refer to sunburn. Skin burn HP:6001253 The concentration of carboxysterols in lymphoblastoid cells cultured in cholesterol-depleted medium is below the lower limit of normal. 2025-05-03T09:32:30Z human_phenotype HP:6001254 When cultured in cholesterol-depleted medium, lymphoblastoid cells of individuals with CHILD syndrome and CK syndrome have increased levels of methyl- and carboxysterols and slightly decreased levels of cholesterol. Elevanted carboxysterol concentration in cultured lymphoblasts HP:6001254 The concentration of carboxysterols in lymphoblastoid cells cultured in cholesterol-depleted medium is below the lower limit of normal. PMID:21290788 An anomaly that can be ascertained by iron-specific magnetic resonance imaging (MRI) sequences such as gradient-echo (GRE) and susceptibility-weighted imaging (SWI). Superficial siderosis of the central nervous system is a chronic condition due to persistent or repeated long-term bleeding into the subarachnoid space, leading to subpial hemosiderin deposition. Hemosiderin deposition on MRI is seen as a T2 hypointensity and preferentially outlines the cerebellum and brainstem surface. 2025-05-03T09:32:30Z Superficial siderosis human_phenotype HP:6001255 Superficial CNS hemosiderin deposition is a manifestation of superficial siderosis (SS) of the central nervous system (CNS), which is typically due to chronic low-grade extravasation of blood into the subarachnoid space. Hemoglobin in red blood cells in the cerebrospinal fluid (CSF) breaks down into globin and neurotoxic heme. In response to the presence of neurotoxic heme, neuroglial cells release hemoxygenase and apoferritin. Hemoxygenase breaks heme into free iron and biliverdin, and apoferritin binds free iron to form ferritin and subsequently hemosiderin. This process is likely neuroprotective and prevents free iron mediated neuronal injury. Persistence of blood in the subarachnoid space eventually overwhelms the ferritin production capacity and unbound iron results in free-radical mediated neuronal injury. Hemosiderin deposits in regions of the brain or spinal cord adjacent to CSF. This confluent subpial hemosiderin deposition results in a characteristic marginal and confluent T2-hypointensity on magnetic resonance imaging that is referred to as SS and it is best appreciated on iron-sensitive sequences. Superficial CNS hemosiderin deposition HP:6001255 An anomaly that can be ascertained by iron-specific magnetic resonance imaging (MRI) sequences such as gradient-echo (GRE) and susceptibility-weighted imaging (SWI). Superficial siderosis of the central nervous system is a chronic condition due to persistent or repeated long-term bleeding into the subarachnoid space, leading to subpial hemosiderin deposition. Hemosiderin deposition on MRI is seen as a T2 hypointensity and preferentially outlines the cerebellum and brainstem surface. PMID:38753899 A type of superficial CNS hemosiderin deposition that most commonly occurs due to iron deposits in the superficial cortical layers following bleeding from leptomeningeal vessels, most often from cerebral amyloid angiopathy in patients aged 55 or older. 2025-05-03T09:32:30Z Cortical superficial siderosis human_phenotype HP:6001256 Cortical superficial CNS hemosiderin deposition HP:6001256 A type of superficial CNS hemosiderin deposition that most commonly occurs due to iron deposits in the superficial cortical layers following bleeding from leptomeningeal vessels, most often from cerebral amyloid angiopathy in patients aged 55 or older. PMID:33860558 PMID:38753899 A type of superficial CNS hemosiderin deposition that involves the cerebellum and brainstem, most commonly the superior vermis, quadrigeminal plate, and basal cerebral surfaces. Cerebellar atrophy, particularly the superior vermis and anterior cerebellar hemispheres, can also be seen on a computed tomography scan of the head. The MRI of the spinal cord may reveal myelomalacia, syringomyelia, owl-eyes, or snake-eyes signs. The most common etiology for classic or primary infratentorial superficial siderosis is spinal dural defects, often dural tears. 2025-05-03T09:32:30Z Infratentorial superfiicial siderosis human_phenotype HP:6001257 Infratentorial superficial CNS hemosiderin deposition HP:6001257 A type of superficial CNS hemosiderin deposition that involves the cerebellum and brainstem, most commonly the superior vermis, quadrigeminal plate, and basal cerebral surfaces. Cerebellar atrophy, particularly the superior vermis and anterior cerebellar hemispheres, can also be seen on a computed tomography scan of the head. The MRI of the spinal cord may reveal myelomalacia, syringomyelia, owl-eyes, or snake-eyes signs. The most common etiology for classic or primary infratentorial superficial siderosis is spinal dural defects, often dural tears. PMID:33860558 PMID:38753899 Pulmonary Hyperplasia is an absolute increase in the number of alveoli, which are mildly enlarged. Pulmonary hyperplasia has been also referred to as polyalveolar lobe and type 3 cystic adenomatoid malformation. 2025-05-03T09:32:30Z human_phenotype HP:6001258 The pathogenesis and clinical characteristics of pulmonary hyperplasia are related to congenital lobar overinflation/emphysema, but should be distinguished. In the latter condition, the volume increase is due to alveolar enlargement as opposed to an absolute increase in alveoli. Radial alveolar counts can be helpful for distinguishing between these two abnormalities. Pulmonary hyperplasia may be associated with in utero death due to compression of venous return to the heart and/or esophageal compression, resulting in polyhydramnios and fetal hydrops. The therapy for infants with lobar distension causing severe mediastinal shift and normal lung compression is surgical removal of the affected lobe or segment. Pulmonary hyperplasia HP:6001258 Pulmonary Hyperplasia is an absolute increase in the number of alveoli, which are mildly enlarged. Pulmonary hyperplasia has been also referred to as polyalveolar lobe and type 3 cystic adenomatoid malformation. PMID:7747754 Demonstration of protozoan parasites in a cerebrospinal fluid (CSF) specimen by microscopy. 2025-05-04T13:34:08Z human_phenotype HP:6001259 Positive protozoan parasite CSF wet mount test HP:6001259 Demonstration of protozoan parasites in a cerebrospinal fluid (CSF) specimen by microscopy. PMID:19635883 A gallbladder (GB) polyp is a growth that projects from the lining of the inside wall of the gallbladder into the lumen of the GB. GB polyps are a common incidental sonographic finding, the vast majority of which are benign. 2025-05-04T13:34:08Z human_phenotype HP:6001260 Most benign GB polyps are non-neoplastic, including cholesterol pseudopolyps and inflammatory polyps. Gallbladder polyp HP:6001260 A gallbladder (GB) polyp is a growth that projects from the lining of the inside wall of the gallbladder into the lumen of the GB. GB polyps are a common incidental sonographic finding, the vast majority of which are benign. PMID:38411693 Multiple polyps arising from the gallbladder mucosal wall. 2025-05-04T13:34:08Z human_phenotype HP:6001261 Gallbladder polyposis HP:6001261 Multiple polyps arising from the gallbladder mucosal wall. PMID:29262128 Discontinuity of the biceps tendon as observed by ultrasound or magnetic resonance (MR) imaging. 2025-05-04T13:34:08Z Biceps tendon tear human_phenotype HP:6001262 Patients suffering from biceps tendon rupture may complain of sudden sharp pain in the elbow or shoulder, depending on the site of the rupture. Usually, there is a history of sudden eccentric force to a flexed elbow. They may feel an audible pop in the affected arm at the time of the injury. Pain can persist for weeks to months. Biceps tendon rupture HP:6001262 Discontinuity of the biceps tendon as observed by ultrasound or magnetic resonance (MR) imaging. PMID:30020607 Medial epicondyle apophysitis (MEA), also known as little league elbow, is an overuse injury prevalent among adolescent athletes whose sport involves repetitive overhand throwing, racket use, or other overhead arm motions. The medial epicondyle is a bony protrusion on the medial elbow with its own ossification center, separate from the main distal humeral physis, known as an apophysis. Medial epicondyle apophysitis occurs due to excessive and repetitive valgus stress placed on the apophysis before its closure. Over time, the repetitive strain results in a traction-type injury and may cause pathologic widening and inflammation of the apophysis or even an avulsion fracture. 2025-05-04T13:34:08Z Little league elbow human_phenotype HP:6001263 Medial epicondyle apophysitis HP:6001263 Medial epicondyle apophysitis (MEA), also known as little league elbow, is an overuse injury prevalent among adolescent athletes whose sport involves repetitive overhand throwing, racket use, or other overhead arm motions. The medial epicondyle is a bony protrusion on the medial elbow with its own ossification center, separate from the main distal humeral physis, known as an apophysis. Medial epicondyle apophysitis occurs due to excessive and repetitive valgus stress placed on the apophysis before its closure. Over time, the repetitive strain results in a traction-type injury and may cause pathologic widening and inflammation of the apophysis or even an avulsion fracture. PMID:34033354 A partial (subluxation) loss of alignment at the base of the thumb, where the first metacarpal bone meets the trapezium bone of the wrist. Thumb radiographs showing carpometacarpal (CMC) joint space widening and/or incongruity of the joint space between thumb metacarpal bone and the trapezium bone. 2025-05-04T15:27:15Z Thumb CMC subluxation Thumb carpometacarpal dislocation human_phenotype HP:6001264 Thumb carpometacarpal subluxation HP:6001264 A partial (subluxation) loss of alignment at the base of the thumb, where the first metacarpal bone meets the trapezium bone of the wrist. Thumb radiographs showing carpometacarpal (CMC) joint space widening and/or incongruity of the joint space between thumb metacarpal bone and the trapezium bone. PMID:33927510 A descriptor indicating that a condition, lesion, or abnormality is confined to the lower eyelid. This localization may be relevant for various ocular conditions, including infections, structural abnormalities, or dermatological diseases affecting the lower eyelid region. 2025-05-04T15:27:15Z Inferior palpebral location Lower lid location human_phenotype HP:6001265 An anatomical spatial pattern or localization referring to the lower eyelid, the smaller, less mobile fold of skin and tissue positioned below the eye. Localized to lower eyelid HP:6001265 A descriptor indicating that a condition, lesion, or abnormality is confined to the lower eyelid. This localization may be relevant for various ocular conditions, including infections, structural abnormalities, or dermatological diseases affecting the lower eyelid region. PMID:30616908 PMID:37777491 Applies to an abnormality that is situated in an eyelid. 2025-05-04T15:27:15Z human_phenotype HP:6001266 Localized to eyelid HP:6001266 A visual phenomenon characterized by the perception of bright rings or halos surrounding light sources. Halo vision is often associated with optical irregularities such as corneal edema, cataracts, or intraocular lens complications. It may also occur in conditions affecting the tear film or due to the presence of glare from light scattering within the ocular media. 2025-05-04T15:27:15Z human_phenotype HP:6001267 Halo vision HP:6001267 A visual phenomenon characterized by the perception of bright rings or halos surrounding light sources. Halo vision is often associated with optical irregularities such as corneal edema, cataracts, or intraocular lens complications. It may also occur in conditions affecting the tear film or due to the presence of glare from light scattering within the ocular media. PMID:12499461 The presence of blood in the seminal fluid. 2025-05-04T15:27:15Z Hemospermia human_phenotype HP:6001268 Hematospermia HP:6001268 Choledocholithiasis is the presence of stones within the common bile duct. 2025-05-04T15:27:15Z human_phenotype HP:6001269 It is estimated that common bile duct stones are present in anywhere from 1-15% of patients with cholelithiasis. Choledocholithiasis HP:6001269 Choledocholithiasis is the presence of stones within the common bile duct. PMID:28722990 Paresthesias on the lateral aspect of the shoulder and upper arm. Weakness in shoulder abduction (deltoid) and shoulder external rotation (teres minor). 2025-05-04T15:27:15Z human_phenotype HP:6001270 Axillary nerve distribution HP:6001270 X-ray of the pelvis (AP, inlet, and outlet views) showing fracture of the pelvic ring, including iliac wing (ilium), superior or inferior pubic ramus, or ischium, and/or displacement of the pubic symphysis or sacroiliac joints. 2025-05-04T15:27:15Z human_phenotype HP:6001271 Pelvic ring fracture HP:6001271 An injury consisting of a laterally displaced scapula with separation of the ipsilateral acromioclavicular joint, disruption of the ipsilateral subclavian vessels and brachial plexus, and an intact overlying skin. 2025-05-04T15:27:15Z human_phenotype HP:6001272 Scapulothoracic dissociation may be associated with a laterally displaced scapula with an ipsilateral distracted clavicular fracture (most common type), acromioclavicular joint separation or less commonly sternoclavicular joint disruption, without or with concomitant injuries to the ipsilateral subclavian or axillary vessels and the brachial plexus. Scapulothoracic dissociation HP:6001272 An injury consisting of a laterally displaced scapula with separation of the ipsilateral acromioclavicular joint, disruption of the ipsilateral subclavian vessels and brachial plexus, and an intact overlying skin. PMID:31046412 Refers to pain that is worse when the individual bears weight with the affected body part. 2025-05-04T15:27:15Z Pain on weight bearing human_phenotype HP:6001273 This feature may be observed in conditions such as hip fracture, tibial shaft fracture, calcaneus fracture, and ankle sprain. Pain exacerbated by weight bearing HP:6001273 The distal phalanx of the adducted thumb extends beyond the ulnar border of the palm (The thumb protrudes from the clenched fist). 2025-07-30T14:15:06Z Steinberg sign human_phenotype HP:6001274 The Steinberg or the thumb sign is elicited by asking the patient to fold his thumb into the closed fist. If the thumb tip extends from the palm of the hand, the test is positive. Thumb sign HP:6001274 The distal phalanx of the adducted thumb extends beyond the ulnar border of the palm (The thumb protrudes from the clenched fist). PMID:7616992 Partial or complete breakage (rupture) of the tibialis anterior tendon (TAT). The TAT is the principal dorsiflexor of the ankle joint and secondary invertor of the foot. It has important roles in the different stages of gait; in the swing phase, it concentrically dorsiflex the ankle for foot clearance and during plantarflexion of the ankle in the stance phase, it eccentrically contract to stabilize the ankle and prevent damage to the foot and ankle. Clinically, presentations in acute lacerations or direct trauma cases are straight forward, in chronic and atraumatic cases usually the symptoms at the time of TAT rupture are more subtle. Other manifestations include mild pain, localized mass, palpable gap, loss of strength, instability during gait, gait disturbances with forefoot dropping and stumbling and high stepping gait. 2025-07-31T12:35:34Z human_phenotype HP:6001275 Tibialis anterior tendon rupture HP:6001275 Partial or complete breakage (rupture) of the tibialis anterior tendon (TAT). The TAT is the principal dorsiflexor of the ankle joint and secondary invertor of the foot. It has important roles in the different stages of gait; in the swing phase, it concentrically dorsiflex the ankle for foot clearance and during plantarflexion of the ankle in the stance phase, it eccentrically contract to stabilize the ankle and prevent damage to the foot and ankle. Clinically, presentations in acute lacerations or direct trauma cases are straight forward, in chronic and atraumatic cases usually the symptoms at the time of TAT rupture are more subtle. Other manifestations include mild pain, localized mass, palpable gap, loss of strength, instability during gait, gait disturbances with forefoot dropping and stumbling and high stepping gait. PMID:31501017 Activity of the enzyme von Willebrand factor-cleaving protease (ADAMTS13) in the blood circulation below the lower limit of normal. 2025-07-31T12:35:34Z HP:6001288 human_phenotype HP:6001276 A severe deficiency of ADAMTS13 (a disintegrin-like and metalloprotease with thrombospondin type 1 repeats) as detected by current assays, less than 5 percent of normal activity, may be specific for Thrombotic thrombocytopenic purpura (TTP). Decreased circulating ADAMTS13 activity HP:6001276 Activity of the enzyme von Willebrand factor-cleaving protease (ADAMTS13) in the blood circulation below the lower limit of normal. PMID:12637323 PMID:30208220 An abnormal result of the methacholine challenge test, which is a bronchoprovocation technique used to evaluate airway hyperresponsiveness, particularly in patients with suspected asthma. 2025-07-31T12:35:34Z human_phenotype HP:6001277 Methacholine, a derivative of acetylcholine, directly induces bronchoconstriction by stimulating airway smooth muscle receptors. In some cases, hyperresponsiveness may be the only objective sign of asthma, making this test a valuable diagnostic tool. The procedure involves stepwise administration of methacholine, followed by spirometry to measure the forced expiratory volume in 1 second. This process continues until either a 20% reduction in the forced expiratory volume in 1 second or a 35-40% reduction in specific airways conductance is observed. The dose required to cause a 20% reduction is known as the provocation dose (PD20). A PD20 of 200 micrograms, or a provocation concentration (PC20) of 8 mg/mL or less, indicates a positive result (100 microgram or 4 mg/mL for specific airway conductance). Abnormal methacholine challenge test HP:6001277 An abnormal result of the methacholine challenge test, which is a bronchoprovocation technique used to evaluate airway hyperresponsiveness, particularly in patients with suspected asthma. PMID:31613496 Detection of the presence of glutamate dehydrogenase produced by Clostridium difficile in a stool sample. 2025-08-10T11:09:56Z Detection of C. difficile glutamate dehydrogenase Positive C. difficile glutamate dehydrogenase test human_phenotype HP:6001278 Clostridium difficile produces an NAD-specific glutamate dehydrogenase (GDH), which converts l-glutamate into alpha-ketoglutarate through an irreversible reaction. The enzyme GDH is detected in the stool samples of patients with C. difficile-associated disease and serves as one of the diagnostic tools to detect C. difficile infection. Clostridium difficile is the leading cause of hospital-acquired diarrhoea, which ranges in severity from mild diarrhoea to fulminant colitis. Positive stool glutamate dehydrogenase test HP:6001278 Detection of the presence of glutamate dehydrogenase produced by Clostridium difficile in a stool sample. PMID:24145018 PMID:35634999 A retrocorneal membrane is an abnormal, fibrous or cellular tissue layer that forms on the posterior surface of the cornea, typically on or adjacent to the Descemet membrane. It may result from trauma, surgery (e.g., penetrating keratoplasty), inflammation, or endothelial cell dysfunction, and can lead to visual impairment depending on its density and extent. 2025-08-10T11:09:56Z Membrane behind the cornea Retrocorneal fibrosis Retrocorneal fibrous membrane human_phenotype HP:6001279 Retrocorneal membrane HP:6001279 A retrocorneal membrane is an abnormal, fibrous or cellular tissue layer that forms on the posterior surface of the cornea, typically on or adjacent to the Descemet membrane. It may result from trauma, surgery (e.g., penetrating keratoplasty), inflammation, or endothelial cell dysfunction, and can lead to visual impairment depending on its density and extent. PMID:20579631 Adrenal hemorrhage is bleeding within the capsule of the adrenal gland. 2025-08-10T11:09:56Z human_phenotype HP:6001280 It is challenging to diagnose because it is considered rare and therefore overlooked in the differential diagnosis, while no clinical features or routine laboratory tests can immediately alert to the diagnosis. Most adrenal hemorrhages were unilateral, presenting incidentally or during trauma evaluation, and occurred secondary to postoperative complication or trauma. Adrenal hemorrhage HP:6001280 Adrenal hemorrhage is bleeding within the capsule of the adrenal gland. PMID:36404284 PMID:38432745 An abnormal increase in the diameter of the optic nerve sheath, typically due to elevated intracranial pressure or local pathology affecting cerebrospinal fluid (CSF) dynamics. It can be detected via imaging modalities such as ultrasound or MRI and may be associated with papilledema, idiopathic intracranial hypertension, or optic nerve tumors. 2025-08-10T11:09:56Z Dilation of the optic nerve sheath Enlarged optic nerve sheath Optic nerve sheath expansion human_phenotype HP:6001281 Optic nerve sheath dilatation HP:6001281 An abnormal increase in the diameter of the optic nerve sheath, typically due to elevated intracranial pressure or local pathology affecting cerebrospinal fluid (CSF) dynamics. It can be detected via imaging modalities such as ultrasound or MRI and may be associated with papilledema, idiopathic intracranial hypertension, or optic nerve tumors. PMID:39585390 A blood clot (thrombus) localized in the right ventricle. 2025-08-10T11:09:56Z human_phenotype HP:6001282 Right ventricular thrombus is a rare finding found in 4% of people diagnosed with pulmonary embolism. Although right ventricular thrombi are usually associated with atrial fibrillation, deep venous vein thrombi, or intracardiac procedures, isolated right ventricular thrombi are rare. Right ventricular thrombus has also been reported in patients with right ventricular infarction, as hypokinesis of the right ventricle causes blood stasis and promotes thrombosis as per Virchow's triad. Right ventricular thrombus HP:6001282 A blood clot (thrombus) localized in the right ventricle. PMID:38746065 Increased susceptibility to Candida infections as manifested by a severe or invasive infection with Candida. Severe manifestations include invasive candidiasis with hematogenous spread (candidaemia), hepatosplenic candidiasis, renal candidiasis, Candida endophthalmitis, and Candida endocarditis. 2025-08-10T11:09:56Z Disseminated candidiasis Hepatosplenic candidiasis Invasive candidiasis human_phenotype HP:6001283 Candida species are colonizers of the human skin and gastrointestinal (GI) tract, existing as part of the microbiome in many healthy individuals. The pathophysiology of disseminated candidiasis in immunocompromised patients is poorly understood but thought to be related to chemotherapy-induced mucositis and profound neutropenia. This allows for Candida species to enter the bloodstream where the organisms can translocate into the portal venous system and seed to the liver and spleen, which explains why the lesions are primarily seen in these two organs. Renal, pulmonary, and other organ involvement have also been documented but not as common. Severe Candida infection HP:6001283 A functional deficit of the phrenic nerve. Phrenic neuropathy (PhN) is a debilitating condition characterized by impairment of the diaphragm muscle, the primary inspiratory muscle. Diaphragm muscle ultrasound is a noninvasive tool that appears to offer both high sensitivity and specificity for diagnosis. Alternatively, electrodiagnostic studies can assess phrenic nerve health. PhN is commonly diagnosed via diaphragm muscle US or fluoroscopy (sniff test) with paradoxical or significantly decreased diaphragm muscle movement. 2025-08-10T11:09:56Z Phrenic nerve neuropathy human_phenotype HP:6001284 Phrenic neuropathy HP:6001284 A functional deficit of the phrenic nerve. Phrenic neuropathy (PhN) is a debilitating condition characterized by impairment of the diaphragm muscle, the primary inspiratory muscle. Diaphragm muscle ultrasound is a noninvasive tool that appears to offer both high sensitivity and specificity for diagnosis. Alternatively, electrodiagnostic studies can assess phrenic nerve health. PhN is commonly diagnosed via diaphragm muscle US or fluoroscopy (sniff test) with paradoxical or significantly decreased diaphragm muscle movement. PMID:39205612 New glomerular basement membrane matrix formation under the endothelial cell. 2025-08-10T12:19:30Z human_phenotype HP:6001285 Glomerular basement membrane subendothelial remodeling HP:6001285 New glomerular basement membrane matrix formation under the endothelial cell. PMID:32866505 Enlargement of the glomerular endothelium (the innermost layer of the glomerular filtration barrier) causing capillary lumen narrowing and loss of fenetrations. 2025-08-10T12:19:30Z Glomerular endothelial swelling human_phenotype HP:6001286 Glomerular endothelium swelling HP:6001286 Enlargement of the glomerular endothelium (the innermost layer of the glomerular filtration barrier) causing capillary lumen narrowing and loss of fenetrations. PMID:32866505 Widening of the lumen of the lumen of the collecting ducts in the renal medulla. 2025-08-10T12:19:30Z human_phenotype HP:6001287 Medullary collecting duct ectasia HP:6001287 Widening of the lumen of the lumen of the collecting ducts in the renal medulla. PMID:30523303 HP:6001276 2025-08-10T12:19:30Z human_phenotype HP:6001288 obsolete Reduced circulating ADAMTS13 activity true HP:6001288 A raised, opaque, and fibrous lesion on the cornea resembling a dermal keloid, typically composed of disorganized collagen and fibrovascular tissue. Corneal keloids can impair vision and are often secondary to trauma, surgery, or underlying congenital disorders. 2025-08-10T12:19:30Z human_phenotype HP:6001289 Corneal keloid HP:6001289 A raised, opaque, and fibrous lesion on the cornea resembling a dermal keloid, typically composed of disorganized collagen and fibrovascular tissue. Corneal keloids can impair vision and are often secondary to trauma, surgery, or underlying congenital disorders. PMID:35598901 An ultrastructural abnormality of the kidney glomeruli characterized by an excessive number or abnormal aggregation of mitochondria in podocytes. 2025-08-10T12:19:30Z Abnormal mitochondrial proliferation in podocytes human_phenotype HP:6001290 Typically observed by electron microscopy in patients with mitochondrial dysfunction-related nephrotic syndromes. Podocytic mitochondrial proliferation HP:6001290 An ultrastructural abnormality of the kidney glomeruli characterized by an excessive number or abnormal aggregation of mitochondria in podocytes. PMID:28117207 The ratio of 24,25(OH)2D to 25(OH)D (also known as vitamin D metabolite ratio or VMR) is above the upper limit of normal. 2025-08-10T12:19:30Z human_phenotype HP:6001291 Elevated vitamin D metabolite ratio HP:6001291 The ratio of 24,25(OH)2D to 25(OH)D (also known as vitamin D metabolite ratio or VMR) is above the upper limit of normal. PMID:26501157 PMID:37220642 Applied to a sign or symptom that is worsened by treatment or supplementation with vitamin D. 2025-08-10T12:19:30Z human_phenotype HP:6001292 Aggravated by vitamin D supplementation HP:6001292 Applied to a sign or symptom that is worsened by treatment or supplementation with vitamin D. PMID:31188746 Applied to a sign or symptom that becomes worse with exposure to sunlight. 2025-08-10T12:19:30Z human_phenotype HP:6001293 This feature represents a clinically observed pattern of symptom worsening in disorders like CYP24A1-related infantile idiopathic hypercalcemia. Aggravated by sun exposure HP:6001293 Applied to a sign or symptom that becomes worse with exposure to sunlight. PMID:31188746 Accumulation of uromodulin within renal tubular cells or lumina. 2025-08-10T12:19:30Z human_phenotype HP:6001294 This feature is typically observed in UMOD-related tubulointerstitial kidney disease. Tubular accumulation of uromodulin HP:6001294 Accumulation of uromodulin within renal tubular cells or lumina. PMID:31488840 Elevated level of reducing substances in the feces. If carbohydrate malabsorption is suspected, a reducing substance should be investigated in the stool using the Benedict or Fehling test. The presence of reducing substances may indicate an abnormality in carbohydrate (e.g., sucrose, lactase) metabolism. The unabsorbed sugars in stool are measured as reducing substances. 2025-08-12T07:34:50Z Elevated fecal reducing substances Increased reducing substances in stool human_phenotype HP:6001295 Elevated stool reducing substances HP:6001295 Osteochondral lesion of the talus (OLT) is an injury involving the articular cartilage and subchondral bone, defined as any damage involving both articular cartilage and subchondral bone of the talar dome. OLT can cause ankle joint pain and can sometimes lead to instability and manifest as an area of abnormal, damaged cartilage and bone on the top of the talus bone (the lower bone of the ankle joint). 2025-08-12T07:34:50Z human_phenotype HP:6001296 Osteochondral lesion of talus HP:6001296 Osteochondral lesion of the talus (OLT) is an injury involving the articular cartilage and subchondral bone, defined as any damage involving both articular cartilage and subchondral bone of the talar dome. OLT can cause ankle joint pain and can sometimes lead to instability and manifest as an area of abnormal, damaged cartilage and bone on the top of the talus bone (the lower bone of the ankle joint). PMID:30498800 PMID:34386361 A mallet toe involves the distal interphalangeal (DIP) joint [such that] the distal phalanx is flexed on the middle phalanx. 2025-08-12T07:34:50Z human_phenotype HP:6001297 The etiology of mallet toe is varied, and has been attributed to anatomy and toe length, shoewear, trauma, or a factor in systemic neurologic disease. With a fixed mallet toe deformity, patients often complain of pain at the dorsal DIP joint, and/or pain at the tip of the affected toe, where undue pressure from footwear and weight bearing is experienced. Calluses may be found at either of these locations. When symptoms can no longer be tolerated with treatments such as modified shoewear and padding in a patient without underlying systemic disease, surgical intervention may be indicated. Mallet toe HP:6001297 A mallet toe involves the distal interphalangeal (DIP) joint [such that] the distal phalanx is flexed on the middle phalanx. PMID:32211125 The bunionette, or tailor's bunion, is a lateral prominence of the fifth metatarsal head. Most commonly, bunionettes are the result of a widened 4-5 intermetatarsal angle with associated varus of the metatarsophalangeal joint. 2025-08-12T07:34:50Z Bunionette toe deformity Tailor's bunion human_phenotype HP:6001298 Radiologically, foot radiographs showing varus deformity at the 5th metatarsophalangeal (MTP) joint as measured by increased 4th-5th intermetatarsal angle (Imore than 8 degrees), increased lateral deviation angle (more that 7 degrees), or increased width of 5th metatarsal head (more than 14mm). Bunionette deformity HP:6001298 The bunionette, or tailor's bunion, is a lateral prominence of the fifth metatarsal head. Most commonly, bunionettes are the result of a widened 4-5 intermetatarsal angle with associated varus of the metatarsophalangeal joint. PMID:17478753 The concentration of beta chorionic gonadotropin in the cerebrospinal fluid (CSF) is above the upper limit of normal. 2025-08-31T17:29:42Z human_phenotype HP:6001299 CSF is marker for monitoring tumor recurrence or evaluation of treatment results in individuals with malignant germ cell tumor. Elevated CSF beta chorionic gonadotropin concentration HP:6001299 The concentration of beta chorionic gonadotropin in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:11007160 Separation of the retinal pigment epithelium (RPE) from the underlying Bruch membrane. 2025-08-31T17:29:42Z human_phenotype HP:6001300 Pigment epithelial detachment (PED) is a common feature in patients with exudative age-related macular degeneration. The prevalence of a PED has been reported to be 10-64% in eyes with polypoidal choroidal vasculopathy, and 10-22% in eyes with typical exudative AMD with choroidal neovascularization. The natural course is characterised by enlargement of the PED with consecutive regression and atrophy of the RPE and outer retina in avascular PEDs or formation of a disciform scar in vascularized PEDs. Pigment epithelium detachment HP:6001300 Separation of the retinal pigment epithelium (RPE) from the underlying Bruch membrane. PMID:28280989 A pathological condition characterized by the proliferation of glial cells in the retina, often occurring as a reactive response to injury, inflammation, or degenerative changes, and typically resulting in structural and functional alterations in the retina. 2025-08-31T17:29:42Z human_phenotype HP:6001301 Retinal gliosis HP:6001301 A pathological condition characterized by the proliferation of glial cells in the retina, often occurring as a reactive response to injury, inflammation, or degenerative changes, and typically resulting in structural and functional alterations in the retina. PMID:26175331 Absence of the crystalline lens in the eye, which may be congenital or acquired (e.g., following surgical removal of the lens for cataracts or trauma). 2025-08-31T17:29:42Z human_phenotype HP:6001302 Aphakia HP:6001302 An unpleasant sensation characterized by physical discomfort that is triggered upon extension (straightening) of the thumb. 2025-08-31T17:29:42Z human_phenotype HP:6001303 Pain on thumb extension may be observed in extensor pollicus longus (EPL) tendonitis. Pain on thumb extension HP:6001303 A partial or complete breakage of the lunate bone. 2025-08-31T17:29:42Z Lunate bone fracture Lunate fracture human_phenotype HP:6001304 Fractured lunate bone HP:6001304 A partial or complete breakage of the triquetrum bone. 2025-08-31T17:29:42Z Triquetrum bone fracture Triquetrum fracture human_phenotype HP:6001305 Fractured triquetrum bone HP:6001305 A partial or complete breakage of the pisiform bone. 2025-08-31T17:29:42Z Pisiform bone fracture Pisiform fracture human_phenotype HP:6001306 Fractured pisiform bone HP:6001306 A partial or complete breakage of the trapezium bone. 2025-08-31T17:29:42Z Trapezium bone fracture Trapezium fracture human_phenotype HP:6001307 Fractured trapezium bone HP:6001307 A partial or complete breakage of the trapezoid bone. 2025-08-31T17:29:42Z Trapezoid bone fracture Trapezoid fracture human_phenotype HP:6001308 Fractured trapezoid bone HP:6001308 A partial or complete breakage of the capitate bone. 2025-08-31T17:29:42Z Capitate bone fracture Capitate fracture human_phenotype HP:6001309 Fractured capitate bone HP:6001309 A partial or complete breakage of the hamate bone. 2025-08-31T17:29:42Z Hamate bone fracture Hamate fracture human_phenotype HP:6001310 Fractured hamate bone HP:6001310 An abnormal enlargement or swelling in the abdomen that pulses or throbs. 2025-08-31T17:29:42Z Pulsating abdominal mass human_phenotype HP:6001311 Clinical palpation of a pulsating abdominal mass alerts the clinician to the presence of a possible abdominal aortic aneurysm (AAA). Pulsatile abdominal mass HP:6001311 An abnormal enlargement or swelling in the abdomen that pulses or throbs. PMID:22644671 An abnormal enlargement or swelling in the abdomen that does not pulse or throb. 2025-08-31T17:29:42Z human_phenotype HP:6001312 Nonpulsatile abdominal mass HP:6001312 A form of acquired anophthalmos resulting from surgical removal of the eye (enucleation or evisceration), typically performed due to trauma, intraocular tumors, intractable pain in a blind eye, or severe infection. Unlike congenital anophthalmos, the orbit may have previously developed normally and prosthetic rehabilitation is often pursued. 2025-08-31T20:35:02Z human_phenotype HP:6001313 Iatrogenic anophthalmos HP:6001313 Activity or concentration of in the level of glutathione peroxidase (EC 1.11.1.9) in erythrocytes below the lower limit of normal. 2025-08-31T20:35:02Z Glutathione peroxidase low in erythrocytes human_phenotype HP:6001314 Glutathione peroxidase catalzyes the reaction 2 glutathione + H2O2 = glutathione disulfide + 2 H2O. Reduced erythrocyte glutathione peroxidase HP:6001314 The concentration of malonylcarnitine in the blood circulation is above the upper limit of normal. 2025-08-31T20:35:02Z Elevated Blood C3DC level Elevated C3DC in plasma Elevated levels of malonylcarnitine in blood acylcarnitine profile Elevated plasma malonylcarnitine level human_phenotype HP:6001315 Elevated circulating malonyl carnitine concentration HP:6001315 The concentration of malonylcarnitine in the blood circulation is above the upper limit of normal. PMID:37144154 PMID:39069445 Abnormal decrease in the number of Sertoli cells in the testis. 2025-08-31T20:35:02Z human_phenotype HP:6001316 Sertoli cell hypoplasia HP:6001316 An abnormal result of the talar tilt test. This test assesses ankle ligament integrity, particularly the calcaneofibular ligament (CFL) and the deltoid ligaments. To perform the test, the foot is placed at an angle of 90 degrees with the leg, the calcaneofibular ligament is perpendicular and the anterior talofibular ligament is parallel to the long axis of the talus. Therefore, inversion in this position results in strain on the calcaneofibular ligament. 2025-08-31T20:35:02Z human_phenotype HP:6001317 Post-traumatic laxity is defined as excessive joint range of motion beyond normal physiologic range of motion. Positive talar tilt test HP:6001317 An abnormal result of the talar tilt test. This test assesses ankle ligament integrity, particularly the calcaneofibular ligament (CFL) and the deltoid ligaments. To perform the test, the foot is placed at an angle of 90 degrees with the leg, the calcaneofibular ligament is perpendicular and the anterior talofibular ligament is parallel to the long axis of the talus. Therefore, inversion in this position results in strain on the calcaneofibular ligament. PMID:24995627 PMID:33543095 A purpuric lesion that is larger than 1 cm in diameter and is located on the sole of the foot. 2025-08-31T20:35:02Z human_phenotype HP:6001318 Plantar ecchymosis may be observed in Lisfranc Injury. Plantar ecchymosis HP:6001318 A purpuric lesion that is larger than 1 cm in diameter and is located on the sole of the foot. PMID:37692589 History of prolonged compressive pressure in the axillary region. 2025-09-01T10:45:00Z Prolonged axillary pressure human_phenotype HP:6001319 Prolonged compressive pressure in the axillary region is a risk factor for compressive radial mononeuropathy. Prolonged exposure to axillary pressure HP:6001319 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the outer side of the ankle. 2025-09-01T10:45:00Z human_phenotype HP:6001320 Lateral ankle pain HP:6001320 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the inner side of the ankle. 2025-09-01T10:45:00Z human_phenotype HP:6001321 Medial ankle pain HP:6001321 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back of the ankle. 2025-09-01T10:45:00Z human_phenotype HP:6001322 Posterior ankle pain HP:6001322 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the front of the ankle. 2025-09-01T10:45:00Z human_phenotype HP:6001323 Anterior ankle pain HP:6001323 Applied to a sign or symptom that is worsened by treatment with colchizine. 2025-09-01T10:45:00Z Colchicine worsens symptoms human_phenotype HP:6001324 Exacerbated by colchicine HP:6001324 A condition characterized by inflammation of the outer walls of retinal veins, often presenting as vascular sheathing or exudates along the venous walls. 2025-09-01T10:45:00Z human_phenotype HP:6001325 Periphlebitis is commonly associated with inflammatory and systemic diseases such as sarcoidosis, multiple sclerosis, or Behcet disease. It may lead to retinal vascular occlusion or neovascularization. Retinal periphlebitis HP:6001325 Elevated leukocyte count in the pericardial fluid ranging from a a microscopic purulent pericardial effusion to gross pus in the pericardial space. 2025-09-01T10:45:00Z human_phenotype HP:6001326 Bacterial pericarditis occurs by direct infection during trauma, thoracic surgery, or catheter drainage, by spread from an intrathoracic, myocardial, or subdiaphragmatic focus, and by hematogenous dissemination. The frequent causes are Staphylococcus and Streptococcus (rheumatic pancarditis), Haemophilus, and M. tuberculosis. Purulent pericardial effusion HP:6001326 Elevated leukocyte count in the pericardial fluid ranging from a a microscopic purulent pericardial effusion to gross pus in the pericardial space. PMID:15725041 A condition characterized by the localized loss or breakdown of the conjunctival epithelium, often resulting in exposure of the underlying tissue. Conjunctival erosion may cause symptoms such as redness, irritation, foreign body sensation, and tearing. It can result from trauma, chemical injuries, ocular surface diseases, or prolonged use of contact lenses. 2025-09-01T10:45:00Z human_phenotype HP:6001327 Conjunctival erosion HP:6001327 Growth of mycobacterium tuberculosis in a sputum culture. 2025-09-01T10:45:00Z Acid fast bacteria sputum culture human_phenotype HP:6001328 Positive Mycobacterium tuberculosis sputum culture HP:6001328 Increased rotation of the lower part of the arm away from the body (tested with the elbow flexed and the elbow held next to the side of the body or shoulder 90 degrees abducted to the side). 2025-09-01T10:45:00Z Shoulder increased external rotation human_phenotype HP:6001329 Increased external rotation of shoulder HP:6001329 The proband is asked to flex the trunk forward with knees straight. The result of the test is considered positive (abnormal) if the palms can be made to rest flat on the floor. 2025-09-01T10:45:00Z Abnormal forward flexion of the trunk manoeuvre Increased forward flexion of the trunk Positive palms-to-floor maneuver Trunk flexion with palms on floor human_phenotype HP:6001330 This item is elicited as one of the nine points of the Beighton Score (BS), a set of manoeuvres in a nine-point scoring system, used as the standard method of assessment for Generalised Joint Hypermobility. Positive trunk flexion test HP:6001330 The proband is asked to flex the trunk forward with knees straight. The result of the test is considered positive (abnormal) if the palms can be made to rest flat on the floor. PMID:33738549 AP, oblique, or lateral view x-ray of the ankle showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint. 2025-09-01T10:45:00Z Ankle arthritis human_phenotype HP:6001331 Tibiotalar arthritis HP:6001331 AP, oblique, or lateral view x-ray of the ankle showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint. PMID:26660651 Imaging study of the ankle revealing osteophyte (bone spur) formation at the anterior aspect of the ankle (tibial or talar neck). 2025-09-01T10:45:00Z Tibiotalar spur human_phenotype HP:6001332 This finding may be associated with tibiotalar synovitis, capsular thickening, scar, and granulation tissue as well. Anterior ankle osteophyte HP:6001332 Imaging study of the ankle revealing osteophyte (bone spur) formation at the anterior aspect of the ankle (tibial or talar neck). PMID:22403038 AP, oblique, or lateral view x-ray of the foot showing radiographic evidence of osteoarthritis in the midfoot (tarsometatarsal (TMT) joints, naviculocuneiform joint, intercuneiform joints, and/or metatarsal cuneiform joints), such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint. 2025-09-01T10:45:00Z human_phenotype HP:6001333 Midfoot includes Tarso-metatarsal (TMT) joints and naviculo-cuneiform joints (NCJ). Talo-navicular joint (TNJ) and calcaneocuboid joint (CCJ) are considered to be part of hindfoot along with sub-talar joint. Tarso-metatarsal joints are divided into three columns anatomically: the medial column (First Tarsometatarsal joint), the middle column (second and third TMT joints) and the lateral column (Fourth and Fifth TMT or Metatarsocuboid joints). TMT joints are collectively known as Lisfranc joints as well. Midfoot arthritis HP:6001333 AP, oblique, or lateral view x-ray of the foot showing radiographic evidence of osteoarthritis in the midfoot (tarsometatarsal (TMT) joints, naviculocuneiform joint, intercuneiform joints, and/or metatarsal cuneiform joints), such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the tibiotalar joint. PMID:32405198 Concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation is below the lower limit of normal. 2025-09-01T10:45:00Z human_phenotype HP:6001334 Decreased circulating reverse T3 concentration HP:6001334 Distribution of findings in hands and feet with a distal to proximal gradient of severity (being more severe in the more distal locations). 2025-09-01T10:45:00Z human_phenotype HP:6001335 Early peripheral neuropathy may present as sensory alterations that are often progressive, including sensory loss, numbness, pain, or burning sensations in a stocking and glove distribution of the extremities. Stocking-glove distribution HP:6001335 A radiological sign related to infiltration of histiocytes into the kidneys and perirenal fat. This infiltration, along with thickening of fibrous bands within the perirenal fat, creates a hairy appearance on cross-sectional imaging studies. 2025-09-01T10:45:00Z Perinephric infiltration human_phenotype HP:6001336 Erdheim-Chester disease is a non-Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes with fibrosis that can affect many organs, most commonly long bones. Renal involvement commonly manifests in this disease as a histiocytic infiltration into the perirenal fat. Hairy kidney sign HP:6001336 A radiological sign related to infiltration of histiocytes into the kidneys and perirenal fat. This infiltration, along with thickening of fibrous bands within the perirenal fat, creates a hairy appearance on cross-sectional imaging studies. PMID:29728208 On a typical diet (e.g., no dietary fat restriction), the intestinal mucosa may have a gelee blanche or white hoar frosting appearance on endoscopy. 2025-09-01T10:45:00Z Gelee blanche appearance of duodenal mucosa White hoar frosting appearance of duodenal mucosa human_phenotype HP:6001337 This finding may be observed in APOB-related familial hypobetalipoproteinemia. Biopsy of the intestinal epithelium may demonstrate lipid-laden epithelial cells. White appearance of duodenal mucosa HP:6001337 On a typical diet (e.g., no dietary fat restriction), the intestinal mucosa may have a gelee blanche or white hoar frosting appearance on endoscopy. PMID:33983694 An acromioclavicular (AC) joint joint separation, often called a shoulder separation, is a dislocation of the clavicle from the acromion. This feature is ascertainable radiographically by AC joint x-ray views including bilateral anteroposterior (AP) view, axillary lateral view, and/or Zanca view showing either superior, posterior, or inferior displacement of the distal clavicle in relation to the acromion at the AC joint. 2025-10-05T16:01:13Z human_phenotype HP:6001338 The AC joint is a diarthrodial joint spanning from the medial articular facet of the acromion to the distal clavicle and links the shoulder girdle to the axial skeleton. Acromioclavicular joint separation HP:6001338 An acromioclavicular (AC) joint joint separation, often called a shoulder separation, is a dislocation of the clavicle from the acromion. This feature is ascertainable radiographically by AC joint x-ray views including bilateral anteroposterior (AP) view, axillary lateral view, and/or Zanca view showing either superior, posterior, or inferior displacement of the distal clavicle in relation to the acromion at the AC joint. PMID:23242975 Degenerative disease of the acromioclavicular (AC) joint that manifests radiographically as Zanca view X-ray of the AC joint showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the AC joint. 2025-10-05T16:01:13Z Osteoarthritis of the acromioclavicular joint human_phenotype HP:6001339 Acromioclavicular joint arthritis HP:6001339 Degenerative disease of the acromioclavicular (AC) joint that manifests radiographically as Zanca view X-ray of the AC joint showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the AC joint. PMID:23649008 A test used with suspected chronic acromioclavicular joint lesions (which are a common source of pain and disability in the shoulder). The test is considered positive with pain in the ipsilateral acromioclavicular joint when patient straightens the affected arm forward and reaches for the contralateral shoulder with extra manual cross body (adduction) pressure on the arm from the examiner. 2025-10-05T16:01:13Z Positive scarf test human_phenotype HP:6001340 Positive shoulder cross-body adduction test HP:6001340 A test used with suspected chronic acromioclavicular joint lesions (which are a common source of pain and disability in the shoulder). The test is considered positive with pain in the ipsilateral acromioclavicular joint when patient straightens the affected arm forward and reaches for the contralateral shoulder with extra manual cross body (adduction) pressure on the arm from the examiner. PMID:15090381 Proximal humeral epiphysiolysis (Little League shoulder) is a shear or stress injury of the epiphyseal cartilage of the proximal humerus. Anteroposterior (AP) view of the shoulder in external rotation showing widening of the proximal humerus physis in comparison to contralateral shoulder with possible metaphyseal bony irregularity. 2025-10-05T16:01:13Z Little league shoulder human_phenotype HP:6001341 Proximal humeral epiphysiolysis HP:6001341 Proximal humeral epiphysiolysis (Little League shoulder) is a shear or stress injury of the epiphyseal cartilage of the proximal humerus. Anteroposterior (AP) view of the shoulder in external rotation showing widening of the proximal humerus physis in comparison to contralateral shoulder with possible metaphyseal bony irregularity. PMID:30485006 A test for ankle instability in which an anterior pull on the calcaneus with is applied with one hand while stabilizing the end of the tibia/fibula with the other hand. The test is considered positive (abnormal) if it results in more than one cm of anterior translation of the foot compared to the healthy, contralateral ankle. 2025-10-05T16:01:13Z Anterior drawer test positive human_phenotype HP:6001342 A positive anterior drawer test indicates possible damage or tearing of the anterior cruciate ligament (ACL) or the anterior talofibular ligament (ATFL). Positive anterior drawer test HP:6001342 A test for ankle instability in which an anterior pull on the calcaneus with is applied with one hand while stabilizing the end of the tibia/fibula with the other hand. The test is considered positive (abnormal) if it results in more than one cm of anterior translation of the foot compared to the healthy, contralateral ankle. PMID:36849957 Injury to a peroneal tendon, as can be ascertained by an MRI study of the ankle showing partial or complete tear of one or both of the peroneal tendons. 2025-10-05T16:01:13Z human_phenotype HP:6001343 Peroneal tendon tear HP:6001343 Injury to a peroneal tendon, as can be ascertained by an MRI study of the ankle showing partial or complete tear of one or both of the peroneal tendons. PMID:23255535 Iselin's disease is a traction apophysitis of base of fifth metatarsal. The apophysis is within the peroneus brevis tendon insertion site and appears radiographically at about age 10 in female and age 12 in male and usually fuses by age 11 in female and by age 14 in male. Repetitive microtrauma from the peroneus brevis tendon, as occurs in sports activities is the cause of traction apophysitis. It can be ascertained by oblique foot radiographs showing apophyseal irregularity (enlarged apophysis, disordered ossification, widened chondro-osseous junction) at the base of the fifth metatarsal. 2025-10-06T08:03:46Z Iselin disease human_phenotype HP:6001344 Fifth metatarsal apophysitis HP:6001344 Iselin's disease is a traction apophysitis of base of fifth metatarsal. The apophysis is within the peroneus brevis tendon insertion site and appears radiographically at about age 10 in female and age 12 in male and usually fuses by age 11 in female and by age 14 in male. Repetitive microtrauma from the peroneus brevis tendon, as occurs in sports activities is the cause of traction apophysitis. It can be ascertained by oblique foot radiographs showing apophyseal irregularity (enlarged apophysis, disordered ossification, widened chondro-osseous junction) at the base of the fifth metatarsal. PMID:27546974 Lateral knee radiograph showing tibial tuberosity apophysis irregularity and fragmentation; tibial tubercle osteochondrosis; traction apophysitis of the tibial tubercle. 2025-10-06T08:03:46Z Osgood-Schlatter disease human_phenotype HP:6001345 The patellar tendon inserts at the tibial tubercle and consists of cartilaginous tissue. This is followed by ossification of the tibial tubercle at ages 10-12 in girls and at ages 12-14 in boys. It is during this stage of bone maturation when Osgood Schlatter disease develops. The prevailing theory is that there is repeated traction over the tubercle leading to microvascular tears, fractures, and inflammation; which then presents as swelling, pain, and tenderness. Tibial tubercle apophysitis HP:6001345 Lateral knee radiograph showing tibial tuberosity apophysis irregularity and fragmentation; tibial tubercle osteochondrosis; traction apophysitis of the tibial tubercle. PMID:28723024 Near absence of small intestinal and colonic endocrine cells. This feature can be ascertained histopathologically and may also be manifested as a lack of staining for enteroendocrive markers such as synaptophysin. 2025-10-06T08:03:46Z human_phenotype HP:6001346 Enteroendocrine cells (EECs) are gut epithelial hormone-secreting cells, influenced by diet and the microbiome. EECs regulate local gastrointestinal functions and systemic signalling, including communication with the brain, while being linked to various diseases. Enteric anendocrinosis HP:6001346 Near absence of small intestinal and colonic endocrine cells. This feature can be ascertained histopathologically and may also be manifested as a lack of staining for enteroendocrive markers such as synaptophysin. PMID:16855267 PMID:39346060 Avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Comment: Affected individuals may present with foot pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. Osteochondrosis is a condition resulting from an epiphysis injury that alters enchondral ossification and produces irregularity at the joint surface. Freiberg disease is characterized as osteochondrosis of the metatarsal heads (primarily the second). 2025-10-06T08:03:46Z Freiberg disease Freiberg infarction Metatarsal head osteonecrosis human_phenotype HP:6001347 Metatarsal head osteochondrosis HP:6001347 Avascular necrosis of a metatarsal head, most commonly involving the second, but also the third or fourth, metatarsal. Comment: Affected individuals may present with foot pain on weight-bearing, swelling, and tenderness. Radiological features include widening of the metatarsophalangeal joint space and flattening of the affected metatarsal head, at later stages metatarsal head sclerosis, cortical thickening, and intra-articular loose bodies. Osteochondrosis is a condition resulting from an epiphysis injury that alters enchondral ossification and produces irregularity at the joint surface. Freiberg disease is characterized as osteochondrosis of the metatarsal heads (primarily the second). PMID:30685014 PMID:30725993 Inflammation of the sesamoid bones of the hallux ( two ovoid-shaped ossicles embedded within the tendons under the big toe). This feature can be ascertained by MRI of the foot, revealing edema within one or both of the hallux sesamoids. 2025-10-06T08:03:46Z human_phenotype HP:6001348 Hallux sesamoiditis HP:6001348 Inflammation of the sesamoid bones of the hallux ( two ovoid-shaped ossicles embedded within the tendons under the big toe). This feature can be ascertained by MRI of the foot, revealing edema within one or both of the hallux sesamoids. PMID:32583133 Os trigonum (OT) is one of the most common accessory ossicles in the foot and ankle region. In clinical practice, OT is a considerable factor that may predispose patients to posterior ankle impingement syndrome (PAIS). Lateral ankle x-ray with foot in plantarflexion reveals an accessory ossicle at the posterior aspect of the talus, between the posterior distal tibia and calcaneal tuberosity. 2025-10-06T08:03:46Z human_phenotype HP:6001349 Os trigonum HP:6001349 Os trigonum (OT) is one of the most common accessory ossicles in the foot and ankle region. In clinical practice, OT is a considerable factor that may predispose patients to posterior ankle impingement syndrome (PAIS). Lateral ankle x-ray with foot in plantarflexion reveals an accessory ossicle at the posterior aspect of the talus, between the posterior distal tibia and calcaneal tuberosity. PMID:39586987 The squeeze test is the most common examination for diagnosing calcaneal apophysitis (Sever disease) and is conducted by compressing the medial and lateral aspects of the calcaneus. The test is considered positive (abnormal) if squeezing elicits pain. 2025-10-06T08:03:46Z Positive calcaneal squeeze test human_phenotype HP:6001350 Positive heel squeeze test HP:6001350 The squeeze test is the most common examination for diagnosing calcaneal apophysitis (Sever disease) and is conducted by compressing the medial and lateral aspects of the calcaneus. The test is considered positive (abnormal) if squeezing elicits pain. PMID:24072363 PMID:39430116 Inflammation of the calcaneal apophysis (bony projection where the Achilles tendon attaches to the heel). Lateral foot x-ray shows increased density in the calcaneal apophysis or fragmentation of the apophysis. 2025-10-06T08:03:46Z human_phenotype HP:6001351 Calcaneal apophysitis HP:6001351 Inflammation of the calcaneal apophysis (bony projection where the Achilles tendon attaches to the heel). Lateral foot x-ray shows increased density in the calcaneal apophysis or fragmentation of the apophysis. PMID:38544602 The concentration of guanidinoacetic acid in the blood circulation is below the lower limit of normal. 2025-10-06T08:03:46Z Low serum GAA concentration Reduced circulating guanidinoacetic acid concentration human_phenotype HP:6001352 Decreased circulating guanidinoacetic acid concentration HP:6001352 The concentration of guanidinoacetic acid in the blood circulation is below the lower limit of normal. PMID:20301745 The concentration of cholestane-3beta, 5alpha, 6beta-triol (C-triol) in the blood circulation is above the upper limit of normal. C-triol is a diagnostic biomarker for Niemann-Pick disease type C. 2025-10-06T08:03:46Z Elevated circulating cholestane-3beta,5alpha,6beta-triol concentration human_phenotype HP:6001353 Elevated circulating C-triol concentration HP:6001353 The concentration of cholestane-3beta, 5alpha, 6beta-triol (C-triol) in the blood circulation is above the upper limit of normal. C-triol is a diagnostic biomarker for Niemann-Pick disease type C. PMID:32178982 A type of oocyte maturation arrest that occurs prior to the breakdown of the germinal vesicle (which is a hallmark of reinitiation of meiosis I and entry into M phase). 2025-10-06T08:03:46Z human_phenotype HP:6001354 Germinal vesicle oocyte maturation arrest HP:6001354 A type of oocyte maturation arrest that occurs prior to the breakdown of the germinal vesicle (which is a hallmark of reinitiation of meiosis I and entry into M phase). PMID:20378111 The morphologic classification of MII generally denotes an oocyte that is mature, having arrested in metaphase II and is presumed to be capable of fertilization. However, there are subsets of women who produce oocytes with MII morphology that are not capable of embryo formation even with fertilization. This incongruence between morphologic maturity and capacity could be attributed to either the inclusion within the morphologic classification immature oocytes arrested at any stage between PBI formation and metaphase II, which are not capable of fertilization, or oocytes arrested normally at metaphase II that do not possess the ability to complete meiosis. 2025-10-06T08:03:46Z Metaphase II oocyte meiotic arrest Oocyte arrest at metaphase II human_phenotype HP:6001355 Metaphase II oocyte maturation arrest HP:6001355 The morphologic classification of MII generally denotes an oocyte that is mature, having arrested in metaphase II and is presumed to be capable of fertilization. However, there are subsets of women who produce oocytes with MII morphology that are not capable of embryo formation even with fertilization. This incongruence between morphologic maturity and capacity could be attributed to either the inclusion within the morphologic classification immature oocytes arrested at any stage between PBI formation and metaphase II, which are not capable of fertilization, or oocytes arrested normally at metaphase II that do not possess the ability to complete meiosis. PMID:20378111 A type of oocyte maturation failure whereby oocytes arrest at more than one stage of meiosis. 2025-10-06T08:03:46Z human_phenotype HP:6001356 Mixed oocyte maturation arrest HP:6001356 A type of oocyte maturation failure whereby oocytes arrest at more than one stage of meiosis. PMID:20378111 Pain localized to dorsal (non-palmar) aspect of the forearm. 2025-10-21T11:37:42Z human_phenotype HP:6001357 Dorsal forearm pain can be observed with radial tunnel syndrome. Dorsal forearm pain HP:6001357 Pain on the volar (palmar) aspect of the forearm. 2025-10-21T11:37:42Z human_phenotype HP:6001358 Volar forearm pain can be observed with conditions such as pronator syndrome. Volar forearm pain HP:6001358 A non-neoplastic gallbladder polyp that is hyperplastic and consists of a lipid deposit. Cholesterol polyps are generally less than 10 mm. often multiple cholesterol polyps are present. They are often associated with vesicular cholesterolosis and are thought to have no malignant potential. 2025-10-21T11:37:42Z human_phenotype HP:6001359 Cholesterol gallbladder polyp HP:6001359 A non-neoplastic gallbladder polyp that is hyperplastic and consists of a lipid deposit. Cholesterol polyps are generally less than 10 mm. often multiple cholesterol polyps are present. They are often associated with vesicular cholesterolosis and are thought to have no malignant potential. PMID:22655278 A gait abnormality characterized by excessive lumbar lordosis (swayback posture, i.e., an inward curvature of the lower spine) and gait pattern with forward tilt of the pelvis and increased lumbar curvature. Hyperlordotic gait is often as a compensatory mechanism for hip extensor weakness, proximal muscle weakness, or hip flexion contracture. 2025-10-26T18:48:12Z Gait with exaggerated lumbar lordosis human_phenotype HP:6001360 Typically seen in patients with muscular dystrophy due to axial and core muscle weakness. Hyperlordotic gait HP:6001360 A gait abnormality characterized by excessive lumbar lordosis (swayback posture, i.e., an inward curvature of the lower spine) and gait pattern with forward tilt of the pelvis and increased lumbar curvature. Hyperlordotic gait is often as a compensatory mechanism for hip extensor weakness, proximal muscle weakness, or hip flexion contracture. PMID:11166162 PMID:30713909 A tear in the fibrous sheet connecting the radius and ulna bones in the forearm. 2025-10-26T18:48:12Z human_phenotype HP:6001361 Radioulnar interosseous membrane tear HP:6001361 A tear in the fibrous sheet connecting the radius and ulna bones in the forearm. PMID:27468369 A radiograpzhic sign in which small bone fragments detached from the olecranon are seen on lateral radiographs in cases with avulsion of the tendon. 2025-10-26T18:48:12Z Dunn-Kusnezov sign Flake sign of the elbow human_phenotype HP:6001362 See Figure 2 of PMID:28461956. Fleck sign of elbow HP:6001362 A radiograpzhic sign in which small bone fragments detached from the olecranon are seen on lateral radiographs in cases with avulsion of the tendon. PMID:28461956 Active wrist flexion against resistance increases pain in the arm. 2025-10-26T18:48:12Z human_phenotype HP:6001363 This sign may be observed with conditions such as medial epicondylitis and lexor carpi radialis tendonitis. Resisted wrist flexion provokes pain HP:6001363 A chronic symptomatic degeneration of the wrist extensor tendons involving their attachment to the lateral epicondyle of the humerus, and is associated clinically with lateral elbow pain (tennis elbow). This term refers to the associated imaging finding. Ultrasound imaging showing extensor carpi radialis brevis (ECRB) tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the ECRB on the lateral aspect of the elbow. 2025-10-26T18:48:12Z human_phenotype HP:6001364 Lateral epicondylitis of the elbow HP:6001364 A chronic symptomatic degeneration of the wrist extensor tendons involving their attachment to the lateral epicondyle of the humerus, and is associated clinically with lateral elbow pain (tennis elbow). This term refers to the associated imaging finding. Ultrasound imaging showing extensor carpi radialis brevis (ECRB) tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the ECRB on the lateral aspect of the elbow. PMID:28461918 Medial epicondylitis, often referred to as golfer's elbow, is a common pathology. Flexor-pronator tendon degeneration occurs with repetitive forced wrist extension and forearm supination during activities involving wrist flexion and forearm pronation. This term refers to the associated imaging finding. Ultrasound imaging showing ECRB tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the common flexor tendon. 2025-10-26T18:48:12Z Golfer's elbow human_phenotype HP:6001365 Medial epicondylitis of the elbow HP:6001365 Medial epicondylitis, often referred to as golfer's elbow, is a common pathology. Flexor-pronator tendon degeneration occurs with repetitive forced wrist extension and forearm supination during activities involving wrist flexion and forearm pronation. This term refers to the associated imaging finding. Ultrasound imaging showing ECRB tendon thickening and hypoechoic areas with increased vascularity or MRI showing increased signal intensity or tear at the insertion site of the common flexor tendon. PMID:26001427 Exaggerated bulging of the belly of the biceps muscle upon contraction. 2025-10-26T18:48:12Z human_phenotype HP:6001366 The Popeye sign involves hump formation caused by bulging of the biceps muscle because of biceps tendon tear. The bulging is more noticeable with elbow flexion and is said to resemble the biceps muscle of the cartoon character Popeye. Popeye sign HP:6001366 Exaggerated bulging of the belly of the biceps muscle upon contraction. PMID:35288410 Rupture (tear) of the distal biceps tendon. Ultrasound imaging showing complete discontinuity of the distal biceps tendon or MRI revealing complete distal biceps tendon discontinuity or increased signal intensity in the distal biceps tendon. 2025-10-26T18:48:12Z Distal biceps tendon tear human_phenotype HP:6001367 Distal biceps tendon rupture HP:6001367 Rupture (tear) of the proximal biceps tendon. MRI reveals a tear of the proximal aspect of the biceps tendon near its site of origin at the supraglenoid tubercle. 2025-10-26T18:48:12Z Proximal biceps tendon tear human_phenotype HP:6001368 Proximal biceps tendon rupture HP:6001368 Detection of an infectious agent, or evidence thereof, in aspirated bursal fluid using microbiological, molecular, or antigen-based testing methods. 2025-10-26T18:48:12Z human_phenotype HP:6001369 Positive bursal fluid infectious agent test HP:6001369 A condition characterized by the death of retinal tissue due to ischemia, infection, or inflammation. 2025-10-26T18:48:12Z Acute necrosis of the retina Retinal necrosis due to infection human_phenotype HP:6001370 Retinal necrosis can result from vascular occlusion, viral infections such as varicella-zoster virus (VZV) or cytomegalovirus (CMV), or autoimmune processes. Clinically, acute retinal necrosis presents with retinal whitening, hemorrhages, and potential retinal detachment, often leading to severe visual impairment or blindness if untreated. Acute retinal necrosis HP:6001370 A condition characterized by the death of retinal tissue due to ischemia, infection, or inflammation. PMID:29262034 Cystic lesions of the proximal humerus are commonly encountered on routine shoulder magnetic resonance imaging (MRI). True cysts are defined as fluid-filled structures or lesions with an epithelial lining, whereas pseudocysts are fluid-filled lesions without epithelial lining. Cystic lesion encompasses both true cysts, pseudocysts and other lesions which could mimic the appearance of a cyst on MRI, with increased signal on fluid sensitive sequences. 2025-10-26T18:48:12Z human_phenotype HP:6001371 Cystic lesions of the humeral head are commonly encountered on routine shoulder magnetic resonance imaging (MRI). Differential diagnoses include degenerative lesions, calcific tendinitis with osseous involvement, perianchor cysts, abscesses and less often, tumours. Degenerative lesions, including subcortical and subchondral cysts, are the most commonly encountered. These may be associated with rotator cuff disease and degenerative joint diseases or considered part of ageing depending on the location of the cystic lesions. Cystic changes in greater tuberosity of the humerus HP:6001371 Cystic lesions of the proximal humerus are commonly encountered on routine shoulder magnetic resonance imaging (MRI). True cysts are defined as fluid-filled structures or lesions with an epithelial lining, whereas pseudocysts are fluid-filled lesions without epithelial lining. Cystic lesion encompasses both true cysts, pseudocysts and other lesions which could mimic the appearance of a cyst on MRI, with increased signal on fluid sensitive sequences. PMID:35919060 Manual internal rotation on the forearm with the shoulders flexed forward to 90 degrees, elbows bent to 90 degrees so that the forearm is parallel to the ground, and palm facing down recreates pain in the shoulder region; named after Dr. Hawkins. 2025-10-26T18:48:12Z Positive Hawkins impingement test Positive Kennedy impingement test human_phenotype HP:6001372 Positive Hawkins test HP:6001372 Manual internal rotation on the forearm with the shoulders flexed forward to 90 degrees, elbows bent to 90 degrees so that the forearm is parallel to the ground, and palm facing down recreates pain in the shoulder region; named after Dr. Hawkins. PMID:10979525 Reduced ability to exert force or power with the hallux (big toe), i.e., reduced strength of the hallux. 2025-10-27T09:02:07Z human_phenotype HP:6001373 Hallux weakness HP:6001373 Reduced ability to lift the big toe (hallux) upward toward the shin. 2025-10-27T09:02:07Z human_phenotype HP:6001374 Hallux dorsiflexion weakness HP:6001374 Reduced ability to push the big toe (hallux) downward, away from the shin. 2025-10-27T09:02:07Z human_phenotype HP:6001375 Hallux plantarflexion weakness HP:6001375 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized about the metatarsal heads in the front part of the foot. 2025-10-27T09:02:07Z Metatarsalgia human_phenotype HP:6001376 Forefoot pain HP:6001376 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized about the metatarsal heads in the front part of the foot. PMID:28109624 A bone spur (osteophyte), i.e., de novo bone formation at the lower edge of the patella (knee cap). Radiographically, it is visible as calcification at inferior pole of the patella. 2025-10-27T09:02:07Z human_phenotype HP:6001377 This finding is characteristic of Sinding-Larsen-Johansson disease. Spur at inferior pole of patella HP:6001377 A bone spur (osteophyte), i.e., de novo bone formation at the lower edge of the patella (knee cap). Radiographically, it is visible as calcification at inferior pole of the patella. PMID:39346060 The presence of urine in the peritoneal cavity, an entity that typically results from bladder rupture or damage to the ureters. 2025-10-27T09:02:07Z human_phenotype HP:6001378 Urinary ascites is commonly due to an obstructive uropathy or a neurogenic bladder. Urinary ascites HP:6001378 The presence of urine in the peritoneal cavity, an entity that typically results from bladder rupture or damage to the ureters. PMID:23190938 PMID:37580961 Abnormal oxygen saturation in mixed venous blood (SvO2). SvO2 can be measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery. The SvO2 is dependent on arterial oxygen saturation, hemoglobin concentration, cardiac output, and tissue oxygen demands. 2025-10-27T09:02:07Z human_phenotype HP:6001379 A fall in SvO2 usually implies anemia, arterial oxygen desaturation, and/or decreased cardiac output; however, a normal or high value does not exclude such disturbances. When employed in conjunction with the other indicators of tissue oxygenation available in an intensive care unit, SvO2 can be useful as a guide for both prognosis and urgency of therapy. Abnormal mixed venous oxygen saturation HP:6001379 Abnormal oxygen saturation in mixed venous blood (SvO2). SvO2 can be measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery. The SvO2 is dependent on arterial oxygen saturation, hemoglobin concentration, cardiac output, and tissue oxygen demands. PMID:6870412 The concentration of lysosphingomyelin in the blood circulation is above the upper limit of normal. Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick type A/B is a lysosomal disorder caused by the deficiency of acid sphingomyelinase (ASM) due to pathogenic variants in the SMPD1 gene. Sphingomyelin (SM) is the substrate for ASM that cleaves the phosphorylcholine linkage of SM producing ceramide. SM is a major compound of most cell membranes and coupled with cholesterol constitutes most of the membrane rafts. In the deficiency of ASM, there is primary storage of SM, and the concentration of lysosphingomyelin in dried blood spots and in the blood circulation is typically elevated. 2025-10-27T09:02:07Z human_phenotype HP:6001380 Elevated circulating lysosphingomyelin concentration HP:6001380 The concentration of lysosphingomyelin in the blood circulation is above the upper limit of normal. Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick type A/B is a lysosomal disorder caused by the deficiency of acid sphingomyelinase (ASM) due to pathogenic variants in the SMPD1 gene. Sphingomyelin (SM) is the substrate for ASM that cleaves the phosphorylcholine linkage of SM producing ceramide. SM is a major compound of most cell membranes and coupled with cholesterol constitutes most of the membrane rafts. In the deficiency of ASM, there is primary storage of SM, and the concentration of lysosphingomyelin in dried blood spots and in the blood circulation is typically elevated. PMID:36348386 A structural anomaly of the lens capsule, the smooth, transparent, acellular basement membrane that envelops the lens of the eye and serves as the attachment site for the lens zonules and the lens epithelium. 2025-10-28T08:50:49Z human_phenotype HP:6001381 Abnormal lens capsule morphology HP:6001381 Posterior capsule opacification, also known as secondary cataract, is the most frequent complication following manual extracapsular cataract extraction. Secondary cataract results from the proliferation and migration of residual epithelial cells in the posterior region of the lens capsule into the visual axis, leading to thickening and reduction in transparency (opacification), which in turn can cause a decrease in visual acuity. 2025-10-28T08:50:49Z Secondary cataract human_phenotype HP:6001382 Posterior capsule opacification HP:6001382 Posterior capsule opacification, also known as secondary cataract, is the most frequent complication following manual extracapsular cataract extraction. Secondary cataract results from the proliferation and migration of residual epithelial cells in the posterior region of the lens capsule into the visual axis, leading to thickening and reduction in transparency (opacification), which in turn can cause a decrease in visual acuity. PMID:21750620 A narrowing (constriction) of the lumen of a bronchus, which may involve one or more of the major airways branching from the trachea. 2025-10-28T08:50:49Z Bronchial narrowing human_phenotype HP:6001383 Bronchial stenosis may affect the main bronchi, lobar bronchi, or segmental bronchi. Clinical manifestations depend on the location and severity of narrowing and can include wheezing, dyspnea, recurrent pneumonia, or asymmetric lung ventilation on imaging. Bronchial stenosis HP:6001383 Skin tenting may occur in the setting of a fracture when a displaced bone fragment pushes on the skin, causing it to bulge outward in a tent-like shape. 2025-10-28T08:50:49Z human_phenotype HP:6001384 Skin tenting due to fracture HP:6001384 Skin tenting may occur in the setting of a fracture when a displaced bone fragment pushes on the skin, causing it to bulge outward in a tent-like shape. PMID:34423090 A type of conjunctivitis characterized by the formation of conjunctival follicles, which appear as raised domes on the are round collections of lymphocytes, and are often most prominent in the inferior fornix (interior part of the lower eyelid). 2025-10-28T08:50:49Z human_phenotype HP:6001385 Follicular conjunctivitis HP:6001385 A type of conjunctivitis characterized by the formation of conjunctival granulomata, i.e., localized nodular inflammatory lesions of the conjunctiva, characterized histologically by aggregates of epithelioid histiocytes, often with multinucleated giant cells, surrounded by lymphocytes and fibroblasts. 2025-10-28T08:50:49Z human_phenotype HP:6001386 Granulomatous conjunctivitis HP:6001386 A type of conjunctivitis characterized by the formation of conjunctival granulomata, i.e., localized nodular inflammatory lesions of the conjunctiva, characterized histologically by aggregates of epithelioid histiocytes, often with multinucleated giant cells, surrounded by lymphocytes and fibroblasts. PMID:37318529 Linear streaks of hypopigmentation or hyperpigmentation that are distributed according to Blaschko lines, which are V-shaped, S-shaped, or linear patterns on the skin that reflect the embryonic migration pathways of epidermal cells (keratinocytes, melanocytes, etc.) during early development. 2025-10-28T08:50:49Z human_phenotype HP:6001387 Areas of hypopigmentation and hyperpigmentation that follow Blaschko lines HP:6001387 Linear streaks of hypopigmentation or hyperpigmentation that are distributed according to Blaschko lines, which are V-shaped, S-shaped, or linear patterns on the skin that reflect the embryonic migration pathways of epidermal cells (keratinocytes, melanocytes, etc.) during early development. PMID:9125765 Small focal extracellular deposits underneath the retina, visible ophthalmoscopically as yellow dots. 2025-10-28T08:50:49Z human_phenotype HP:6001388 Drusen are lipid-, mineral-, and protein-containing extracellular deposits that accumulate between the basal lamina of the retinal pigment epithelium and Bruch's membrane of the human eye. They are a defining feature of age-related macular degeneration, a common sight-threatening disease of older adults. Retinal drusen HP:6001388 Small focal extracellular deposits underneath the retina, visible ophthalmoscopically as yellow dots. PMID:19726434 PMID:30404862 A developmental anomaly characterized by partial or complete absence of a limb or digit at birth, resulting from interruption of normal limb development in utero. 2025-10-28T08:50:49Z Congenital amputation Intra-uterine amputation human_phenotype HP:6001389 The two main mechanisms involve amniotic band disruption (constriction of a developing limb or digit by fibrous amniotic bands) and vascular disruption (e.g., thrombosis, hemorrhage, or ischemia). Intrauterine amputation HP:6001389 A developmental anomaly characterized by partial or complete absence of a limb or digit at birth, resulting from interruption of normal limb development in utero. PMID:25531236 PMID:31407870 PMID:40818398 A developmental anomaly characterized by partial or complete absence of a finger or toe at birth, resulting from interruption of normal development in utero. 2025-10-28T08:50:49Z human_phenotype HP:6001390 Intrauterine digital amputation HP:6001390 A developmental anomaly characterized by partial or complete absence of an arm or leg at birth, resulting from interruption of normal development in utero. 2025-10-28T08:50:49Z human_phenotype HP:6001391 Intrauterine limb amputation HP:6001391 A developmental anomaly characterized by partial or complete absence of an arm or leg at birth, resulting from interruption of normal development in utero. PMID:31407870 PMID:31424867 PMID:31787161 Inflammation and deterioration of the proximal interphalangeal (PIP) joints. Radiographically, PIP arthritis can be characterized by PIP joint space narrowing, subchondral cysts, and osteophytes. 2025-10-30T08:04:07Z human_phenotype HP:6001392 PIP arthritis manifests clinically with swollen, tender PIP joints, with a more diffuse, swollen appearance and a fusiform joint contour. Joint stiffness is almost always present and often correlates with the degree of swelling. Proximal interphalangeal joint arthritis HP:6001392 Inflammation and deterioration of the proximal interphalangeal (PIP) joints. Radiographically, PIP arthritis can be characterized by PIP joint space narrowing, subchondral cysts, and osteophytes. PMID:31312517 A nondissociative form of carpal instability, in which the lunate bone angulates to the dorsal side of the hand. 2025-10-30T08:04:07Z human_phenotype HP:6001393 Carpal instability can be defined as the lack of ligamentous and bony support to maintain a wrist stable to external forces. Dorsal intercalated segment instability HP:6001393 A nondissociative form of carpal instability, in which the lunate bone angulates to the dorsal side of the hand. PMID:23790423 The arcs of the Gilula are used on PA wrist radiographs as part of assessing the normal alignment of the carpus. The 1st arc (red) outlines the proximal surfaces and the 2nd arc (yellow) the distal surfaces of the scaphoid, lunate and triquetrum. The 3rd arc (white) outlines the proximal surfaces of the capitate and hamate. Disruption of carpal arcs (i.e., the arcs appear broken or discontinuous on radiographs) indicates a fracture or ligamentous injury in the wrist. 2025-10-30T08:04:07Z Disruption of Gilula carpal arcs human_phenotype HP:6001394 Disruption of carpal arcs HP:6001394 The arcs of the Gilula are used on PA wrist radiographs as part of assessing the normal alignment of the carpus. The 1st arc (red) outlines the proximal surfaces and the 2nd arc (yellow) the distal surfaces of the scaphoid, lunate and triquetrum. The 3rd arc (white) outlines the proximal surfaces of the capitate and hamate. Disruption of carpal arcs (i.e., the arcs appear broken or discontinuous on radiographs) indicates a fracture or ligamentous injury in the wrist. PMID:37511801 Dislocation of the lunate bone, generally as a result of trauma. Volar displacement of the lunate is said to result a tipped teacup. 2025-10-30T08:04:07Z human_phenotype HP:6001395 Lateral wrist x-ray showing proximal dorsal displacement of the capitate and volar displacement of the dislocated lunate in a flexed position. Spilled teacup sign of the wrist HP:6001395 Dislocation of the lunate bone, generally as a result of trauma. Volar displacement of the lunate is said to result a tipped teacup. PMID:23616330 PMID:37511801 Finkelstein's test produces severe tenderness and usually pain on the radial aspect of the wrist when the thumb is flexed into the palm and the wrist is ulnar deviated. 2025-10-30T08:04:07Z human_phenotype HP:6001396 The Finkelstein test is a provocative test for diagnosis of De Quervain disease that can easily be performed in an office setting or at the bedside. Positive Finkelstein sign HP:6001396 Finkelstein's test produces severe tenderness and usually pain on the radial aspect of the wrist when the thumb is flexed into the palm and the wrist is ulnar deviated. PMID:30969590 Outward deviation or turning of the front part of the foot away from the body's midline. An anteroposterior foot x-ray shows increased Simmon angle (angle between the talus and first metatarsal, normal is 7 degrees plus/minus 4 to 5 degrees) or increased talonavicular uncoverage of over 30 to 40 percent. A common clinical observation is the too many toes sign; when viewed from behind, more than two toes will flare out laterally due to the valgus alignment of the foot. 2025-10-30T09:46:20Z human_phenotype HP:6001397 Forefoot abduction HP:6001397 Outward deviation or turning of the front part of the foot away from the body's midline. An anteroposterior foot x-ray shows increased Simmon angle (angle between the talus and first metatarsal, normal is 7 degrees plus/minus 4 to 5 degrees) or increased talonavicular uncoverage of over 30 to 40 percent. A common clinical observation is the too many toes sign; when viewed from behind, more than two toes will flare out laterally due to the valgus alignment of the foot. PMID:31194317 Damage to the posterior tibialis tendon, which runs along the inside of the ankle and foot, supporting the arch of the foot. MRI or ultrasound of the ankle/foot shows posterior tibial tendon degeneration such as tendinosis, tenosynovitis, edema around the tendon, or tendon tear. 2025-10-30T09:46:20Z human_phenotype HP:6001398 The posterior tibialis muscle originates from the posterior proximal tibia, interosseous membrane and proximal fibula; it is in the deep posterior compartment of the leg and turns at the medial malleolus, changing its line of pull from the vertical one to the horizontal one. The myotendinous junction is situated at the distal third of the leg and only the tendinous portion turns at the medial malleolus; anterior subluxation is prevented by a flexor retinaculum which binds the tendon into the shallow groove at the medial malleolus. Posterior tibial tendon injury HP:6001398 Damage to the posterior tibialis tendon, which runs along the inside of the ankle and foot, supporting the arch of the foot. MRI or ultrasound of the ankle/foot shows posterior tibial tendon degeneration such as tendinosis, tenosynovitis, edema around the tendon, or tendon tear. PMID:28979585 PMID:31194317 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to palpation of plantar aspect of the foot (the sole). 2025-10-30T09:46:20Z human_phenotype HP:6001399 Plantar pain HP:6001399 Damage to the flexor hallucis longus (FHL) tendon. The FHL tendon is a long tendon that runs from the deep calf muscle down through the ankle to the big toe, enabling toe flexion and supporting foot mechanics.. MRI or ultrasound of the ankle/foot shows degenerative changes of the FHL tendon such as fluid around the tendon at the level of the ankle joint, intra-substance tendinous signal, tendon thickening, tendonitis, or tenosynovitis, or tendon rupture. 2025-10-30T09:46:20Z human_phenotype HP:6001400 Flexor hallucis longus tendon injury HP:6001400 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the big toe (hallux). 2025-10-30T09:46:20Z Big toe pain First toe pain Great toe pain Pain in hallux human_phenotype HP:6001401 Hallux pain HP:6001401 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the side of the foot nearest to the big toe (hallux). 2025-10-30T09:46:20Z human_phenotype HP:6001402 Pain on the medial aspect of the foot HP:6001402 Damage affecting one or both of the two small, pea-shaped bones (sesamoids) embedded in the tendons beneath the first metatarsophalangeal joint of the big toe. Foot x-ray shows fracture, subluxation, or dislocation of the sesamoid of the hallux. 2025-10-30T09:46:20Z human_phenotype HP:6001403 Hallux sesamoid injury HP:6001403 Damage affecting one or both of the two small, pea-shaped bones (sesamoids) embedded in the tendons beneath the first metatarsophalangeal joint of the big toe. Foot x-ray shows fracture, subluxation, or dislocation of the sesamoid of the hallux. PMID:19232995 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the radial side of the wrist. 2025-11-02T23:10:54Z Radial-sided wrist pain human_phenotype HP:6001404 Radial wrist pain HP:6001404 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the volar side of the wrist (i.e., to the palm side - front - of the wrist). 2025-11-02T23:10:54Z human_phenotype HP:6001405 Volar wrist pain HP:6001405 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the dorsal side (back) of the wrist. 2025-11-02T23:10:54Z human_phenotype HP:6001406 Dorsal wrist pain HP:6001406 Pain elicited with palpation along the course of the peroneal tendons, located posterior to the lateral malleolus and extending distally toward the base of the fifth metatarsal. 2025-11-15T12:26:43Z human_phenotype HP:6001407 Peroneal tendon tenderness HP:6001407 Pain elicited with palpation along the course of the peroneal tendons, located posterior to the lateral malleolus and extending distally toward the base of the fifth metatarsal. PMID:31335074 Dynamic ultrasound of the lateral ankle showing subluxation or dislocation of one or both of the peroneal tendons out of the peroneal groove. 2025-11-15T12:26:43Z human_phenotype HP:6001408 Peroneal tendon subluxation HP:6001408 Dynamic ultrasound of the lateral ankle showing subluxation or dislocation of one or both of the peroneal tendons out of the peroneal groove. PMID:31335074 Ankle MRI or ultrasound showing edema or thickening of peroneal tendon(s), fluid within peroneal tendon sheath, or a partial or complete tear in one or both of the peroneal tendons. 2025-11-15T12:26:43Z human_phenotype HP:6001409 Peroneal tendon injury HP:6001409 Ankle MRI or ultrasound showing edema or thickening of peroneal tendon(s), fluid within peroneal tendon sheath, or a partial or complete tear in one or both of the peroneal tendons. PMID:31335074 The concentration of succinylacetone in the blood circulation is above the upper limit of normal. 2025-11-15T12:26:43Z Succinylacetone high in blood human_phenotype HP:6001410 Succinylacetone can be created by the oxidation of glycine, and is a precursor of methylglyoxal. Succinylacetone is an abnormal tyrosine metabolite that arises from defects in the enzyme called fumarylacetoacetase. Elevated circulating succinylacetone concentration HP:6001410 The concentration of succinylacetone in the blood circulation is above the upper limit of normal. PMID:16448836 PMID:32832707 Reduced height of the palate. A flat palate is present with a palatal index angle below 30 degrees, a normal palate with an angle between 30 and 45 degrees, and a steep palate with an angle above 45 degrees. 2025-11-15T12:26:43Z human_phenotype HP:6001411 Flat palate HP:6001411 Reduced height of the palate. A flat palate is present with a palatal index angle below 30 degrees, a normal palate with an angle between 30 and 45 degrees, and a steep palate with an angle above 45 degrees. PMID:18402092 The concentration of C-terminal telopeptide cross-link of type1 collagen in the blood circulation is above the upper limit of normal. 2025-11-15T12:26:43Z human_phenotype HP:6001412 C-terminal telopeptide cross-link of type1 collagen is a biomarker of bone resorption. Elevated circulating C-terminal telopeptide cross-link of type1 collagen concentration HP:6001412 The concentration of C-terminal telopeptide cross-link of type1 collagen in the blood circulation is above the upper limit of normal. PMID:40638774 Applied to a sign or symptom that is worsened by treatment with a pulmonary vasodilator medication such as prostacyclin analogs, endothelin receptor antagonists, and phosphodiesterase-5 (PDE5) inhibitors. 2025-11-15T12:26:43Z Exacerbated by pulmonary vasodilators human_phenotype HP:6001413 Exacerbated by pulmonary vasodilator exposure HP:6001413 History of exposure to mercury. 2025-11-15T12:26:43Z human_phenotype HP:6001414 Mercury exposure HP:6001414 History of exposure to mercury. PMID:40287162 Encapsulated collections of urine around the kidney in the retroperitoneum, most commonly in the perirenal space, as a consequence of renal tract leakage caused by urinary obstruction, trauma, or post-instrumentation. 2025-11-15T12:26:43Z human_phenotype HP:6001415 Urinoma HP:6001415 Encapsulated collections of urine around the kidney in the retroperitoneum, most commonly in the perirenal space, as a consequence of renal tract leakage caused by urinary obstruction, trauma, or post-instrumentation. PMID:34507797 Abnormal fluid draining from the umbilicus (from wounds, surgical sites, or fistulas). 2025-11-15T12:26:43Z human_phenotype HP:6001416 The dischanrge may be serous, purulent, bloody, or foul-smelling. Umbilical discharge HP:6001416 Abnormal fluid draining from the umbilicus (from wounds, surgical sites, or fistulas). PMID:34277280 Abnormal biparietal diameter (BPD) refers to a fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone on an ultrasound image, that lies outside the expected range for a given gestational age. The expected range typically falls between the 10th and 90th percentiles, with microcephaly defined as a BPD below the 3rd percentile (or more than 2 standard deviations below the mean) and macrocephaly defined as a BPD above the 97th percentile (or more than 2 standard deviations above the mean). 2025-11-15T12:26:43Z Abnormal BPD human_phenotype HP:6001417 Abnormal biparietal diameter HP:6001417 Abnormal biparietal diameter (BPD) refers to a fetal head width measurement, taken between the outer edge of the proximal parietal bone and the inner edge of the distal parietal bone on an ultrasound image, that lies outside the expected range for a given gestational age. The expected range typically falls between the 10th and 90th percentiles, with microcephaly defined as a BPD below the 3rd percentile (or more than 2 standard deviations below the mean) and macrocephaly defined as a BPD above the 97th percentile (or more than 2 standard deviations above the mean). PMID:6152941 PMID:6979175 Abnormal BPD Femur length is measured between the outer border of one end of the the femoral diaphysis to the other outer border, excluding the epiphysis or other artifact. Abnormal femur length is defined as being more than two standard deviations away from the mean. 2025-11-15T12:26:43Z human_phenotype HP:6001418 Abnormal fetal femur length HP:6001418 Pain worsens with wrist ulnar deviation (i.e., the pain is exacerbated if the hand is moved towards the side with the fifth finger). 2025-11-19T09:34:39Z human_phenotype HP:6001419 Pain exacerbated by wrist ulnar deviation HP:6001419 Pain worsens with wrist radial deviation (i.e., the pain is exacerbated if the hand is moved towards the side with the thumb). 2025-11-19T09:34:39Z human_phenotype HP:6001420 Pain exacerbated by wrist radial deviation HP:6001420 A phenomenon whereby the distal ulna articular surface is more distal than the distal radius articular surface. 2025-11-19T09:34:39Z human_phenotype HP:6001421 The triangular fibrocartilage complex (TFCC) is a well-defined anatomical entity of the wrist joint known as the primary stabilizing structure of the distal radioulnar joint (DRUJ). The TFCC provides considerable DRUJ stability. The instability of DRUJ caused by the foveal tear of the TFCC also results in an abnormal anatomic relationship between the radius and ulna. When the foveal attachment of the TFCC is disrupted, the ulnar head is free to sublux dorsally relative to the sigmoid notch of the radius, which is aggravated under the stress of pronation. This change in the anatomic relationship between the radius and ulna can be easily observed on plain radiographs. Ulnar positive variance HP:6001421 A phenomenon whereby the distal ulna articular surface is more distal than the distal radius articular surface. PMID:36752828 Negative ulnar variance is a condition in which the ulna is relatively shorter than the radius at the carpus. AP wrist X-ray shows the distal ulna articular surface more proximal than the distal radius articular surface. 2025-11-19T09:34:39Z human_phenotype HP:6001422 Negative ulnar variance may be observed in Kienbock disease. Negative ulnar variance HP:6001422 Inflammation of the flexor carpi radialis (FCR) tendon, which traverses the carpus through a narrow fibro-osseous tunnel. 2025-11-19T09:34:39Z FCR inflammation human_phenotype HP:6001423 Flexor carpi radialis (FCR) tendinitis is an uncommon but important cause of volar radial wrist pain. The FCR tendon may become inflamed primarily or as a sequelae of carpometacarpal arthroplasty, arthritis, or trauma. Flexor carpi radialis tendonitis HP:6001423 Inflammation of the flexor carpi radialis (FCR) tendon, which traverses the carpus through a narrow fibro-osseous tunnel. PMID:39166186 A transillumination test involves shining light through an area of the body or a mass. This term refers to a transillumination test that shows especially high (positive) transillumination, which may be observed when a mass or swelling contains clear fluid rather than solid tissue or blood. 2025-11-19T09:34:39Z Bright transillumination human_phenotype HP:6001424 Ganglion cysts may show high transillumination. Transillumination test shows high light transmission HP:6001424 A transillumination test involves shining light through an area of the body or a mass. This term refers to a transillumination test that shows especially high (positive) transillumination, which may be observed when a mass or swelling contains clear fluid rather than solid tissue or blood. PMID:20124823 Hyperleukocytosis is commonly defined as a white blood cell (WBC) count of greater than 100,000 luekocytes per microliter. 2025-11-19T09:34:39Z human_phenotype HP:6001425 Hyperleukocytosis can be observed in conditions such as acute myeloid leukemia, which is characterized by the clonal proliferation of hematopoietic stem cells. Hyperleukocytosis is regarded as a hematological emergeny and can lead to complications such as leukostasis, disseminated intravascular coagulation, and tumor lysis syndrome. Hyperleukocytosis HP:6001425 Hyperleukocytosis is commonly defined as a white blood cell (WBC) count of greater than 100,000 luekocytes per microliter. PMID:33080779 Impairment of the ability of the elbow joint to maintain proper anatomical alignment and functional mechanics. Elbow instability is a spectrum from subluxation to dislocation, with corresponding clinical and pathologic features and therapeutic implications. 2025-11-19T09:34:39Z human_phenotype HP:6001426 Elbow instability HP:6001426 Impairment of the ability of the elbow joint to maintain proper anatomical alignment and functional mechanics. Elbow instability is a spectrum from subluxation to dislocation, with corresponding clinical and pathologic features and therapeutic implications. PMID:28160902 PMID:7962147 A type of elbow instability that arises through injuries to the medial collateral ligament (MCL), specifically the anterior bundle (AMCL). In the valgus stress test, the elbow is placed in 20 to 30 degrees of flexion with the forearm supinated and a valgus stress is applied. The test is positive when no firm end point is palpated, greater than 1 mm of medial joint opening is noted (fluoroscopically), or there is reproduction of the patient's pain. 2025-11-19T09:34:39Z human_phenotype HP:6001427 Medial collateral ligament injuries may occur after trauma, such as an elbow dislocation, or as a repetitive overuse injury, commonly seen in overhead-throwing athletes. The typical history includes a pop and medial elbow pain following throwing activities, or patients may present with recurrent medial elbow pain, classically during the late cocking to early acceleration phase of throwing. Athletes typically complain of a progressive loss of velocity, accuracy, and endurance, which may be exacerbated by glenohumeral internal rotation deficits common to throwing athletes. The physical examination typically elicits tenderness over the MCL. Valgus instability of the elbow HP:6001427 A type of elbow instability that arises through injuries to the medial collateral ligament (MCL), specifically the anterior bundle (AMCL). In the valgus stress test, the elbow is placed in 20 to 30 degrees of flexion with the forearm supinated and a valgus stress is applied. The test is positive when no firm end point is palpated, greater than 1 mm of medial joint opening is noted (fluoroscopically), or there is reproduction of the patient's pain. PMID:28160902 A type of elbow insttability characterized by abnormal widening or gapping of the lateral (radial) side of the elbow joint when a varus stress is applied, due to insufficiency of the lateral collateral ligament complex. 2025-11-19T09:34:39Z human_phenotype HP:6001428 Varus instability of the elbow HP:6001428 A type of elbow insttability characterized by abnormal widening or gapping of the lateral (radial) side of the elbow joint when a varus stress is applied, due to insufficiency of the lateral collateral ligament complex. PMID:28160902 Decreased foot eversion secondary to pain, weakness, or mechanical block. 2025-11-20T11:19:56Z Foot eversion limited human_phenotype HP:6001429 This feature is assocaited with a reduced foot range of motion and may be experienced as a stiff foot. Limited foot eversion HP:6001429 Decreased foot inversion secondary to pain, weakness, or mechanical block. 2025-11-20T11:19:56Z Foot inversion limited human_phenotype HP:6001430 This feature is assocaited with a reduced foot range of motion and may be experienced as a stiff foot. Limited foot inversion HP:6001430 Demonstration of Tropheryma whipplei bacteria in the synovial (joint) fluid by microscopic analysis. 2025-11-20T11:19:56Z human_phenotype HP:6001431 Positive synovial Tropheryma whipplei bacteria microscopy HP:6001431 An abnormal result of the calf-squeeze test (also known as the Thompson test), which is considered a sign of Achilles tendon rupture. The test is positive (abnormal) if no plantar flexion of the foot occurs at calf squeezing. 2025-11-20T11:19:56Z Positive Simmonds-Thompson test Positive Thompson test human_phenotype HP:6001432 With the patient laying prone and feet hanging over the edge of a table, passive squeeze of the calf does not reproduce normal plantarflexion of the foot. Positive calf squeeze test HP:6001432 An abnormal result of the calf-squeeze test (also known as the Thompson test), which is considered a sign of Achilles tendon rupture. The test is positive (abnormal) if no plantar flexion of the foot occurs at calf squeezing. PMID:25409728 A partial or complete break in the Achilles tendon (the tendon that connects the gastrocnemius and soleus to the calcaneus). This feature can be ascertained by magnetic resonance imaing (MRI) of the foot/ankle showing partial or complete tear of the achilles tendon. 2025-11-20T11:19:56Z human_phenotype HP:6001433 Achilles tendon tear HP:6001433 Demonstration of the presence of bacteria by gram staining of bursa fluid. The sample is generally obtained by bursal fluid aspiration. 2025-11-29T18:44:02Z human_phenotype HP:6001434 Positive bursa fluid gram stain HP:6001434 A structural anomaly of the medial epicondyle, which is the site of the attachment of various muscles, including the radial and ulnar flexor of the wrist, the superficial flexor of the fingers, the palmaris longus and the pronator teres muscle. 2025-11-29T18:44:02Z human_phenotype HP:6001435 Abnormal medial epicondyle morphology HP:6001435 A structural anomaly of the medial epicondyle, which is the site of the attachment of various muscles, including the radial and ulnar flexor of the wrist, the superficial flexor of the fingers, the palmaris longus and the pronator teres muscle. PMID:37344531 An avulsion fracture of the medial epicondyle of the elbow. Radiological examination in the anteroposterior and lateral projection can be used to make the diagnosis and to determine the degree and direction of the fracture displacement. 2025-11-29T18:44:02Z human_phenotype HP:6001436 Medial humerus epicondyle avulsion fracture HP:6001436 An avulsion fracture of the medial epicondyle of the elbow. Radiological examination in the anteroposterior and lateral projection can be used to make the diagnosis and to determine the degree and direction of the fracture displacement. PMID:37344531 A swelling or enlargement localized to the hand. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. 2025-11-29T18:44:02Z Bump on the hand Hand growth Hand nodule Hand tumor Lump on the hand human_phenotype Hand cyst HP:6001437 Hand mass HP:6001437 Inflammation of the synovial sheath that surrounds a tendon. 2025-12-17T15:52:15Z human_phenotype HP:6001438 Tenosynovitis can be ascertained as hypoechoic or anechoic thickened tissue with or without fluid within the tendon sheath, which is seen in 2 perpendicular planes and which may exhibit Doppler signal. Tenosynovitis HP:6001438 Inflammation of the synovial sheath that surrounds a tendon. PMID:16331793 Enhanced visibility of large choroidal vessels through the retinal pigment epithelium (RPE). This reticulated pattern is commonly observed on fundus examination and color fundus photography. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal thinning. 2025-12-17T15:52:15Z Fundus tesselation Mosaic fundus Tessellated fundus human_phenotype HP:6001439 Tigroid fundus may be a normal variant or an early phenotypic indicator of various retinal or choroidal diseases. In pathological conditions such as high myopia, age-related choroidal atrophy, or inherited retinal dystrophies, FT may reflect underlying structural alterations in the choroid, RPE, or sclera, some of which may predispose to significant visual impairment Tigroid fundus HP:6001439 Enhanced visibility of large choroidal vessels through the retinal pigment epithelium (RPE). This reticulated pattern is commonly observed on fundus examination and color fundus photography. Such hypopigmented areas alternate with hyperpigmented zones in a tigroid pattern. Fundus tessellation is often associated with myopia and choroidal thinning. PMID:40914444 The amount of glycogen in the myocardial tissue of the heart is below the lower limit of normal. 2025-12-17T15:52:15Z Glycogen depletion in cardiac muscle tissue human_phenotype HP:6001440 Decreased myocardial glycogen content HP:6001440 The amount of glycogen in the myocardial tissue of the heart is below the lower limit of normal. PMID:17928598 PMID:21958591 PMID:40536305 The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against myelin oligodendrocyte glycoprotein. 2025-12-17T15:52:15Z human_phenotype HP:6001441 CSF anti-myelin oligodendrocyte glycoprotein antibody positivity can be seen in MOG antibody-associated disease (MOGAD), multiple sclerosis, and other neuroimmunological diseases. CSF anti-myelin oligodendrocyte glycoprotein antibody positivity HP:6001441 The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against myelin oligodendrocyte glycoprotein. PMID:39318613 PMID:40327177 The H sign can be ascertained by spinal magnetic resonance imaging (MRI) and represents spinal cord myelitis isolated to the gray matter. A longitudinally extensive T2 hyperintense spinal cord lesion from C6 to T10, predominantly involving the gray matter. The appearance of the anomaly is said to resemble the letter H. 2025-12-17T15:52:15Z H sign in the spinal cord human_phenotype HP:6001442 The H sign can be observed with Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), multiple sclerosis, and other neuroimmunological diseases. Spinal cord H sign HP:6001442 The H sign can be ascertained by spinal magnetic resonance imaging (MRI) and represents spinal cord myelitis isolated to the gray matter. A longitudinally extensive T2 hyperintense spinal cord lesion from C6 to T10, predominantly involving the gray matter. The appearance of the anomaly is said to resemble the letter H. PMID:39318613 PMID:40327177 Any deviation from the normal ratio of testosterone and estradiol (the primary sex steroids) to each other. The testosterone:estradiol ratio is derived from total testosterone in ng/dL and total estradiol in pg/mL, and expressed as T:E. Normal ranges are affected by sex, age, and other factors. 2025-12-17T15:52:15Z human_phenotype HP:6001443 There is a natural balance between the major sex steroids, testosterone and estradiol, controlled by gonadal secretion and peripheral conversion by aromatase. This balance is impacted by a variety of inborn and acquired conditions. Abnormal testosterone: estradiol ratio HP:6001443 Any deviation from the normal ratio of testosterone and estradiol (the primary sex steroids) to each other. The testosterone:estradiol ratio is derived from total testosterone in ng/dL and total estradiol in pg/mL, and expressed as T:E. Normal ranges are affected by sex, age, and other factors. PMID:39344113 The concentration of IGFBP-3 (Insulin-like Growth Factor-Binding Protein 3) in the blood circulation is outside the limits of normal. 2025-12-17T15:52:15Z human_phenotype HP:6001444 Abnormal circulating insulin-like growth factor 3 concentration HP:6001444 The concentration of IGFBP-3 (Insulin-like Growth Factor-Binding Protein 3) in the blood circulation is outside the limits of normal. PMID:37008935 The concentration of insulin-like growth factor 3 concentration (IGF3) in the blood circulation is below the lower limit of normal. 2025-12-17T15:52:15Z human_phenotype HP:6001445 Decreased circulating insulin-like growth factor 3 concentration HP:6001445 The concentration of insulin-like growth factor 3 concentration (IGF3) in the blood circulation is below the lower limit of normal. PMID:1373347 Inflammation of the cartilage of the airway, including especially the trachea and bronchi. 2025-12-17T15:52:15Z Respiratory tract chondritis human_phenotype HP:6001446 Airway chondritis HP:6001446 Inflammation of the cartilage of the airway, including especially the trachea and bronchi. PMID:40271291 inflammation of the costal cartilage (the cartilage that connects the ribs to the sternum). The typical presentation of costochondritis is bilateral parasternal chest wall pain exacerbated by deep breaths, coughing, and stretching. The upper (predominantly second through fifth) costochondral and/or costosternal junctions are most commonly involved. The areas of tenderness are not generally accompanied by heat, erythema, or localized swelling. 2025-12-17T15:52:15Z Inflammation of he cartilage that connects the ribs to the sternum (breastbone) human_phenotype HP:6001447 Costochondritis HP:6001447 inflammation of the costal cartilage (the cartilage that connects the ribs to the sternum). The typical presentation of costochondritis is bilateral parasternal chest wall pain exacerbated by deep breaths, coughing, and stretching. The upper (predominantly second through fifth) costochondral and/or costosternal junctions are most commonly involved. The areas of tenderness are not generally accompanied by heat, erythema, or localized swelling. PMID:34264599 Inflammation of he cartilage that connects the ribs to the sternum (breastbone) Past medical history of surgical procedure on the eye or its surroundings. 2025-12-18T15:49:31Z human_phenotype HP:6001448 History of ocular surgery HP:6001448 Increased thickness of the plantar fascia. This finding can be ascertained by ultrasound or magnetic resonance imaging. 2025-12-18T15:49:31Z Plantar fasciitis human_phenotype HP:6001449 The plantar fascia, also called the plantar aponeurosis, is a strong connective tissue structure that helps maintain the longitudinal arch of the foot. The diagnosis of plantar fasciitis generally relies on clinical history and physical examination. The main symptoms include pain and stiffness in the morning, or pain at the beginning of activity after rest. Physical examination reveals tenderness at the origin of the PF and impaired dorsiflexion of the ankle and extension of the toes. MRI or ultrasound of the foot show thickening of the plantar fascia (over 4.5mm) or increased signal within the plantar fascia. Increased plantar fascia thickness HP:6001449 Increased thickness of the plantar fascia. This finding can be ascertained by ultrasound or magnetic resonance imaging. PMID:27957702 Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is above the upper limit of normal. 2025-12-18T15:49:31Z human_phenotype HP:6001450 Increased mixed venous oxygen saturation HP:6001450 Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is above the upper limit of normal. PMID:6870412 Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is below the lower limit of normal. 2025-12-18T15:49:31Z human_phenotype HP:6001451 Decreased mixed venous oxygen saturation HP:6001451 Oxygen saturation in mixed venous blood (SvO2), as measured in a sample of mixed venous blood drawn from the distal lumen of a catheter placed in the pulmonary artery, is below the lower limit of normal. PMID:6870412 Characteristic chocolate-brown color of circulating blood with an elevated methemoglobin content. 2025-12-18T15:49:31Z Circulating blood brown or black human_phenotype HP:6001452 Chocolate brown blood HP:6001452 Characteristic chocolate-brown color of circulating blood with an elevated methemoglobin content. PMID:30726002 The difference between the venous-to-arterial carbon dioxide saturation (Pv-aCO2) is above the upper limit of normal. 2025-12-18T15:49:31Z Increased pCO2 gap human_phenotype HP:6001453 Central venous-arterial carbon dioxide difference (PCO2 gap) can be a marker of cardiac output adequacy in global metabolic conditions that are less affected by the impairment of oxygen extraction capacity. Elevated pCO2 gap HP:6001453 The difference between the venous-to-arterial carbon dioxide saturation (Pv-aCO2) is above the upper limit of normal. PMID:32377433 An imaging anomly of the putamen that is thought to be pathognomic for MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739). In stage 1 of the disease, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an eye that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. Sparing of the mid dorsal putamen (showing normal signal surrounded by T2 hyperintense signal) is referred to as the putaminal eye. 2025-12-18T15:49:31Z human_phenotype HP:6001454 Putaminal eye sign HP:6001454 An imaging anomly of the putamen that is thought to be pathognomic for MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739). In stage 1 of the disease, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an eye that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. Sparing of the mid dorsal putamen (showing normal signal surrounded by T2 hyperintense signal) is referred to as the putaminal eye. PMID:25642805 PMID:37996139 Axial view on shoulder X-ray or MRI showing decreased distance between posterior border of the coracoid process and anterior border of the humeral head of less than 6 mm; subcoracoid impingement; decreased coracohumeral interval. 2025-12-18T15:49:31Z Coracohumeral distance decreased human_phenotype HP:6001455 Decreased coracohumeral distance can be observed in conditions such as rotator cuff tear and shoulder external impingement syndrome. Decreased coracohumeral distance HP:6001455 Any structural anomaly of the deltoid muscle, the large triangular intrinsic shoulder muscle, so named because its shape resembles the inverted Greek letter delta. 2025-12-18T15:49:31Z human_phenotype HP:6001456 Abnormal deltoid muscle morphology HP:6001456 Any structural anomaly of the deltoid muscle, the large triangular intrinsic shoulder muscle, so named because its shape resembles the inverted Greek letter delta. PMID:30725741 An injury of the deltoid muscle of the shoulder or its tendon characterized by partial or complete rupture. 2025-12-18T15:49:31Z human_phenotype HP:6001457 Deltoid muscle tear HP:6001457 Anteropostrior (AP), axillary, or Grashey (true AP) view X-ray of the shoulder showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the glenohumeral joint. 2025-12-18T15:49:31Z Shoulder arthritis human_phenotype HP:6001458 Glenohumeral arthritis HP:6001458 Anteropostrior (AP), axillary, or Grashey (true AP) view X-ray of the shoulder showing radiographic evidence of osteoarthritis such as joint space narrowing, subchondral sclerosis, subchondral cysts, and/or osteophyte formation in the glenohumeral joint. PMID:32662351 An anomaly of the roots of a multi-rooted tooth (such as a molar) in which the roots are not physically divided by bone or periodontal ligament space. Fused dental root Unseparated dental root human_phenotype HP:6001459 Root fusion may be formed either by the combining of roots because of cementum deposition with time or as a result of the failure of the Hertwig epithelial root sheath to develop or fuse in the furcation area, which is frequently found in maxillary and mandibular premolars and molars. In mandibular molars, root fusion usually presents as a C-shaped root, whereas in maxillary molars fused roots may show various root shapes, such as two or more roots being fused partially or completely. Dental root fusion HP:6001459 An anomaly of the roots of a multi-rooted tooth (such as a molar) in which the roots are not physically divided by bone or periodontal ligament space. PMID:24862720 A phenomenon whereby an individual struggles to float, cannot swim despite adequate training, or simply sinks. This phenomenon may be observed in individuals with conditions such as osteopetrosis that are characterized by substantially increased bone mineral density (which implies reduced bouyancy). human_phenotype HP:6001460 Difficulty floating in water HP:6001460 A phenomenon whereby an individual struggles to float, cannot swim despite adequate training, or simply sinks. This phenomenon may be observed in individuals with conditions such as osteopetrosis that are characterized by substantially increased bone mineral density (which implies reduced bouyancy). PMID:21455762 Aortitis refers to inflammatory changes to the wall of the aorta and incorporates both infectious and non-infectious etiologies. human_phenotype HP:6001461 The term aortitis encompasses inflammatory changes to the aortic wall from varying etiologies that are associated with certain specific histopathological lesions. The inflammatory response may be limited to the aortic wall or accompanied by changes directly adjacent to the vessel (e.g. retroperitoneal fibrosis) or other vessels (e.g., giant cell arteritis). A distinction is made between infectious and non-infectious aortitis. Takayasu arteritis and giant cell arteritis are the most common causes of non-infectious aortitis. Aortitis HP:6001461 Aortitis refers to inflammatory changes to the wall of the aorta and incorporates both infectious and non-infectious etiologies. PMID:27546992 PMID:33593995 Pain in an arm that is triggered by muscular exertion. human_phenotype HP:6001462 This anomaly is observed in the setting of a patient with axillary or subclavian artery disease. Upper extremity claudication HP:6001462 Pain in an arm that is triggered by muscular exertion. PMID:21250079 PMID:37021621 Pain in the tongue induced by speaking or chewing. Lingual claudication human_phenotype HP:6001463 Tongue claudication HP:6001463 Pain in the tongue induced by speaking or chewing. PMID:30385998 Focal, regional or diffuse magnetic resonance imaging (MRI) enhancement of intracranial perivascular spaces (PVS). This enhancement pattern is recognizable by its topography that follows PVS distribution, particularly identifiable in regions where PVS predominate (centra semiovalia, basal ganglia and the brachium pontis)15 although it can be found throughout the whole brain. Depending on the perpendicular or parallel orientation of MRI sections to the long axis of PVS, enhanced PVS appear as dots or curvilinear elements respectively. Depending on the causal pathology, PVE may appear more linear or nodular. Perivascular enhancement pattern human_phenotype HP:6001464 Perivascular spaces (PVS) are fluid-filled structures that form the immediate peripheral environment of small cerebral vessels. They are a central component of the glymphatic system, which plays a crucial role in maintaining cerebral homeostasis. Cerebral perivascular enhancement pattern HP:6001464 Focal, regional or diffuse magnetic resonance imaging (MRI) enhancement of intracranial perivascular spaces (PVS). This enhancement pattern is recognizable by its topography that follows PVS distribution, particularly identifiable in regions where PVS predominate (centra semiovalia, basal ganglia and the brachium pontis)15 although it can be found throughout the whole brain. Depending on the perpendicular or parallel orientation of MRI sections to the long axis of PVS, enhanced PVS appear as dots or curvilinear elements respectively. Depending on the causal pathology, PVE may appear more linear or nodular. PMID:39828213 Dislocation or subluxation of the long head of the biceps tendon out of the bicipital groove (as documented by magnetic resonance imaging of the shoulder) or dynamic ultrasound of the shoulder showing subluxation or dislocation of the long head of the biceps tendon out of the bicipital groove. LHBT dislocation human_phenotype HP:6001465 Isolated dislocation of the long head of the biceps is a rare entity. In most cases, dislocation of the biceps tendon out of the bicipital groove is usually associated with tears of the subscapularis tendon or massive rotator cuff tears (or both). Long head of biceps tendon dislocation HP:6001465 Dislocation or subluxation of the long head of the biceps tendon out of the bicipital groove (as documented by magnetic resonance imaging of the shoulder) or dynamic ultrasound of the shoulder showing subluxation or dislocation of the long head of the biceps tendon out of the bicipital groove. PMID:17126231 PMID:30475566 The concentration of somatostatin in the blood corculation is above the upper limit of normal. Somatostatin high in blood human_phenotype HP:6001466 Somatostatin is a 14 amino acid polypeptide whose principal function is to regulate growth hormone release from the pituitary. Elevated serum and synovial fluid somatostatin levels have been associated with inflammatory responses most notably in rheumatoid arthritis. Elevated circulating somatostatin concentration HP:6001466 The concentration of somatostatin in the blood corculation is above the upper limit of normal. PMID:15496230 Absence of attached gingiva. The gingiva is subdivided into the nonattached free gingiva (which includes the gingival margin and the papillae) and the attached gingiva. The attached gingiva is tightly and unmovably bound to the periosteum via collagen type I fibers. The gingiva is keratinized and thicker than the mucosa to provide mechanical protection. The border between attached gingiva and mucosa constitutes the mucogingival junction. In vivo, it is sometimes visible as a white line . The oral mucosa is loosely connected to the periosteum and nonkeratinized. It is movable, thin, more fragile, translucent, and blood vessels are visible. human_phenotype HP:6001467 Lack of attached gingiva HP:6001467 Absence of attached gingiva. The gingiva is subdivided into the nonattached free gingiva (which includes the gingival margin and the papillae) and the attached gingiva. The attached gingiva is tightly and unmovably bound to the periosteum via collagen type I fibers. The gingiva is keratinized and thicker than the mucosa to provide mechanical protection. The border between attached gingiva and mucosa constitutes the mucogingival junction. In vivo, it is sometimes visible as a white line . The oral mucosa is loosely connected to the periosteum and nonkeratinized. It is movable, thin, more fragile, translucent, and blood vessels are visible. PMID:33005042 PMID:41489249 A full thickness tear of the diaphragm without significant trauma. human_phenotype HP:6001468 Spontaneous diaphragmatic rupture is a rare complication of Ehlers-Danlos syndrome in which abnormal collagen synthesis results in tissue fragility and weakness of the diaphragm, predisposing to full-thickness tearing without significant trauma, typically triggered by a sudden increase in intra-abdominal pressure such as coughing, vomiting, or physical exertion, and resulting in herniation of abdominal contents into the thoracic cavity. Spontaneous diaphragmatic rupture HP:6001468 A full thickness tear of the diaphragm without significant trauma. PMID:22524904 PMID:28785503 PMID:41356277 An increase in the difference between the oxygen concentration in the alveoli and arterial system above the upper limit of normal. human_phenotype HP:6001469 The A-a gradient, or the alveolar-arterial gradient, measures the difference between the oxygen concentration in the alveoli and arterial system. The A-a gradient has important clinical utility as it can help narrow the differential diagnosis for hypoxemia. The A-a gradient calculation is as follows: A-a Gradient = PAO2 - PaO2. In this equation, PAO2 represents alveolar oxygen pressure and PaO2 representing arterial oxygen pressure. The arterial oxygen pressure (PaO2) can be directly assessed with an arterial blood gas test (ABG) or estimated with a venous blood gas test (VBG). The alveolar oxygen pressure (PAO2) is not easily measured directly; instead, it is estimated using the alveolar gas equation. The A-a gradient may be increased in clinical conditions such as pneumonia, with poor diffusion of oxygen across the alveolar-capillary unit and thus lower oxygen levels in the arterial blood (because of the physical barrier within the alveoli, limiting the diffusion of oxygen into the capillaries). Elevated alveolar-arterial (A-a) oxygen gradient HP:6001469 An increase in the difference between the oxygen concentration in the alveoli and arterial system above the upper limit of normal. PMID:31424737 Adrenaline, noradrenaline and dopamine are degraded by catechol-O-methyltransferase (COMT) to form their inactive metabolites metanephrine, normetanephrine and 3-methoxytyramine (3-MT). When there is an indication for biochemical testing, such as suspicion of pheochromocytoma, metanephrine and normetanephrine metabolites are measured in plasma or 24-hour urine. This term represents an elevation of the concentration of metanephrine and normetanephrine in the blood circulation above the upper limit of normal. Metanephrines high in blood human_phenotype HP:6001470 Abnormal concentration of circulating metanephrines HP:6001470 Adrenaline, noradrenaline and dopamine are degraded by catechol-O-methyltransferase (COMT) to form their inactive metabolites metanephrine, normetanephrine and 3-methoxytyramine (3-MT). When there is an indication for biochemical testing, such as suspicion of pheochromocytoma, metanephrine and normetanephrine metabolites are measured in plasma or 24-hour urine. This term represents an elevation of the concentration of metanephrine and normetanephrine in the blood circulation above the upper limit of normal. PMID:37300464 The concentration of 3-O-methyldopa in the blood circulation is above the upper limit of normal. 3-O-methyldopa elevated Elevated circulating 3-OMD concentration human_phenotype HP:6001471 3-O-methyldopa (3-OMD) is produced by the methylation of L-DOPA by catechol-O-methyltransferase. 3-OMD may be elevated in the plasma and cerebrospinal fluid of Parkinson's disease patients taking L-DOPA and it is also observed to be elevated in individuals with Aromatic L-amino acid decarboxylase deficiency. Elevated circulating 3-O-methyldopa concentration HP:6001471 The concentration of 3-O-methyldopa in the blood circulation is above the upper limit of normal. PMID:28100251 The concentration of 3-O-methyldopa in the cerebrospinal fluid (CSF) is above the upper limit of normal. human_phenotype HP:6001472 3-O-methyldopa (3-OMD) is produced by the methylation of L-DOPA by catechol-O-methyltransferase. 3-OMD may be elevated in the plasma and cerebrospinal fluid of Parkinson's disease patients taking L-DOPA and it is also observed to be elevated in individuals with Aromatic L-amino acid decarboxylase deficiency. Elevated CSF 3-O-methyldopa concentration HP:6001472 The concentration of 3-O-methyldopa in the cerebrospinal fluid (CSF) is above the upper limit of normal. PMID:28100251 An unchanging bending forward of the fetal head in the uterus as visualized by prenatal sonography. This sign can be defined as a lack of change in this position during the 30 min of observation. Additionally, identical head flexion is observable several times at intervals. human_phenotype HP:6001473 This feature has been observed in fetuses with Multiple pterygium syndrome, lethal type. Fixed fetal head flexion HP:6001473 An unchanging bending forward of the fetal head in the uterus as visualized by prenatal sonography. This sign can be defined as a lack of change in this position during the 30 min of observation. Additionally, identical head flexion is observable several times at intervals. PMID:27987045 The rectosigmoid (R/S) ratio, a measure comparing rectal to sigmoid colon diameter, is below the lower limit of normal on prenatal ultrasound. The rectosigmoid is normally the widest segment of the fetal colon. If the rectosigmoid is narrower than the ascending or transverse colon above it), this is called a reversed rectosigmoid ratio or abnormal rectosigmoid index. The RS ratio is calculated by dividing the transverse rectal diameter by the sigmoid diameter. An R/S ratio of 1 or more is considered normal. Reversed rectosigmoid ratio human_phenotype HP:6001474 An abnormal rectosigmoid ratio may indicate Hirschsprung disease. Abnormal rectosigmoid index HP:6001474 The rectosigmoid (R/S) ratio, a measure comparing rectal to sigmoid colon diameter, is below the lower limit of normal on prenatal ultrasound. The rectosigmoid is normally the widest segment of the fetal colon. If the rectosigmoid is narrower than the ascending or transverse colon above it), this is called a reversed rectosigmoid ratio or abnormal rectosigmoid index. The RS ratio is calculated by dividing the transverse rectal diameter by the sigmoid diameter. An R/S ratio of 1 or more is considered normal. PMID:17164511 PMID:17502185 PMID:25677577 Visible edema (swelling) in a cord with a minimal cross sectional area of 1-3 cm2. This may result from an excessive accumulation of Wharton jelly, resulting in a thick or edematous umbilical cord. human_phenotype HP:6001475 Umbilical cord edema HP:6001475 Visible edema (swelling) in a cord with a minimal cross sectional area of 1-3 cm2. This may result from an excessive accumulation of Wharton jelly, resulting in a thick or edematous umbilical cord. PMID:41133498 PMID:806296 Enterolithiasis (concretions or stones forming within the gastrointestinal tract) is a prenatal sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel. Enterolith in a fetal ultrasound human_phenotype HP:6001476 Fetal enterolithiasis HP:6001476 Enterolithiasis (concretions or stones forming within the gastrointestinal tract) is a prenatal sonographic sign defined by hyperechogenic foci within the - often distended - fetal bowel. PMID:30879001 The identification of malignant cells in cerebrospinal fluid (CSF), generally by microscopic examination of the CSF. Cerebrospinal fluid cancer cells Cerebrospinal fluid neoplastic cells Positive CSF cytology human_phenotype HP:6001477 Malignant cells in CSF HP:6001477 The identification of malignant cells in cerebrospinal fluid (CSF), generally by microscopic examination of the CSF. PMID:27759807 PMID:573381 A prenatal sonographic finding characterized by a high forehead, prominent glabella, and a broad, un-tapered nasal bridge that merges directly into the brow line. This appearance is said to resemble a Greek (Corinthian) warrior helmet because the wide, solid vertical column down the center of the face is said to resemble the fixed, protective nose guard of a Corinthian helmet. human_phenotype HP:6001478 This sign is suggestive of the Wolf-Hirschhorn (4p-) syndrome. Greek warrior helmet sign HP:6001478 A prenatal sonographic finding characterized by a high forehead, prominent glabella, and a broad, un-tapered nasal bridge that merges directly into the brow line. This appearance is said to resemble a Greek (Corinthian) warrior helmet because the wide, solid vertical column down the center of the face is said to resemble the fixed, protective nose guard of a Corinthian helmet. PMID:15305099 PMID:16258951 PMID:17324995 Somatostatinoma is a rare, functional neuroendocrine tumor (NET) that primarily arises in the pancreas and duodenum, characterized by excessive production of somatostatin. human_phenotype HP:6001479 A somatostatinoma secretes somatostatin, which typically inhibits numerous gastrointestinal and endocrine functions. Clinically, this condition often presents with a classic triad of diabetes mellitus, cholelithiasis, and steatorrhea, resulting from hormonal suppression. On noncontrast CT, somatostatinomas typically appear isodense relative to pancreatic parenchyma. Endoscopic ultrasound is highly sensitive and specific for detecting pancreatic neuroendocrine neoplasms, including lesions smaller than 5 mm. Somatostatin receptor-based positron emission tomography (PET) using appropriate radiolabeled ligands demonstrates excellent sensitivity and specificity for tumor localization and staging. Somatostatinoma HP:6001479 Somatostatinoma is a rare, functional neuroendocrine tumor (NET) that primarily arises in the pancreas and duodenum, characterized by excessive production of somatostatin. PMID:31869077 A circumscribed, palpable, potentially elevated, erythematous lesion > 1 cm in diameter and localized to the scalp. Erythematous plaques exhibiting erythema, i.e., abnormal redness of the skin due to localized dilation and congestion of superficial dermal capillaries, typically as a result of inflammation, irritation, infection, or vasodilation, and usually blanching with pressure. human_phenotype HP:6001480 Erythematous plaque of the scalp may be observed in dermatomyositis and often are pruritic. Erythematous scalp plaque HP:6001480 A circumscribed, palpable, potentially elevated, erythematous lesion > 1 cm in diameter and localized to the scalp. Erythematous plaques exhibiting erythema, i.e., abnormal redness of the skin due to localized dilation and congestion of superficial dermal capillaries, typically as a result of inflammation, irritation, infection, or vasodilation, and usually blanching with pressure. PMID:26801523 PMID:37153943 An abnormal result of the hair pull test, in which the clinician selects 50 to 60 hairs and holds the bundle close to the scalp between the thumb, index finger, and long finger. The clinician then firmly pulls on the bundle using slow traction as the fingers slide down the hair shaft, avoiding a fast and forceful tug. The hair pulls are performed at the vertex, parietal areas, and the occipital area of the scalp. Next, the pulled hairs are counted. Any broken hairs that were extracted from the bundle during the pull are discarded. If more than 10 percent of the hairs in each bundle are removed from a scalp area, the hair pull test is considered positive. human_phenotype HP:6001481 If fewer than 10% are removed, then the hair loss can usually be attributed to normal shedding. If a test is positive in more than one scalp region, the clinician must consider telogen or anagen effluvium. Other hair disorders (ie, alopecia areata) may only have a positive hair pull test in the affected area. The hair pull test is ideally used for monitoring the advancing edge of alopecia areata, acute cases of telogen effluvium, anagen effluvium, and loose anagen syndrome. Positive hair pull test HP:6001481 An abnormal result of the hair pull test, in which the clinician selects 50 to 60 hairs and holds the bundle close to the scalp between the thumb, index finger, and long finger. The clinician then firmly pulls on the bundle using slow traction as the fingers slide down the hair shaft, avoiding a fast and forceful tug. The hair pulls are performed at the vertex, parietal areas, and the occipital area of the scalp. Next, the pulled hairs are counted. Any broken hairs that were extracted from the bundle during the pull are discarded. If more than 10 percent of the hairs in each bundle are removed from a scalp area, the hair pull test is considered positive. PMID:28010890 A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired voluntary, goal-directed hand movements, such as reaching, grasping, manipulating objects, or self-feeding. Loss of acquired hand function Loss of purposeful hand movements Loss of purposeful hand skills Loss of purposeful hand use Regression of purposeful hand use human_phenotype HP:6001482 Loss of acquired purposeful hand skills HP:6001482 A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired voluntary, goal-directed hand movements, such as reaching, grasping, manipulating objects, or self-feeding. PMID:21154482 A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired expressive verbal communication, including words, phrases, or sentences the individual had used meaningfully, after these skills had been acquired during development. Loss of expressive language Regression of spoken language human_phenotype HP:6001483 Loss of acquired language is based on best acquired spoken language skill, not strictly on the acquisition of distinct words or higher language skills. Loss of acquired spoken language HP:6001483 A type of neurodevelopmental regression characterized by deterioration or disappearance of previously acquired expressive verbal communication, including words, phrases, or sentences the individual had used meaningfully, after these skills had been acquired during development. PMID:21154482 Slowing of the rate of head circumference growth occurring after birth, in an individual with normal head circumference at birth, leading to progressive deviation from normal growth curves and, in many cases, acquired (postnatal, secondary) microcephaly. human_phenotype HP:6001484 The human brain undergoes dramatic changes in size and connectivity after birth. From birth to age six years, the brain increases in size by four-fold, reaching 90 percent of adult volume. During normal development, the growth of head circumference is largely driven by growth of underlying brain tissue. Postnatal deceleration of headgrowth HP:6001484 Slowing of the rate of head circumference growth occurring after birth, in an individual with normal head circumference at birth, leading to progressive deviation from normal growth curves and, in many cases, acquired (postnatal, secondary) microcephaly. PMID:21154482 Wasting of the small muscles of the foot such as the abductor hallucis, flexor digitorum brevis, and the interossei muscles. human_phenotype HP:6001485 This sign may indicate diabetix neuropathy of length-dependent polyneuropathies such as Charcot-Marie-Tooth disease. Foot small muscle atrophy HP:6001485 Wasting of the small muscles of the foot such as the abductor hallucis, flexor digitorum brevis, and the interossei muscles. PMID:15920063 2026-06-23 hp/releases/2026-06-23 Human Phenotype Ontology Consortium Monarch Initiative Peter Robinson Sebastian Köhler The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities and clinical features encountered in human disease. Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative Phenotypic abnormalities encountered in human disease Human Phenotype Ontology human_phenotype 1.2 has_part Please see license of HPO at http://www.human-phenotype-ontology.org 2026-06-23